#CHROM POS ID REF ALT EFFECT GENE SnpEFF AP-003 AP-005 AP-009 AP-021 10 93505 rs147114528 C T NON_SYNONYMOUS_CODING TUBB8 MODERATE|MISSENSE|cGg/cAg|R204Q|372|TUBB8|protein_coding|CODING|ENST00000447903|exon_10_92828_94054 0/1:63:60,0,253 . . . 10 93505 rs147114528 C T NON_SYNONYMOUS_CODING TUBB8 MODERATE|MISSENSE|cGg/cAg|R239Q|407|TUBB8|protein_coding|CODING|ENST00000440680|exon_10_92893_94054 0/1:63:60,0,253 . . . 10 93505 rs147114528 C T NON_SYNONYMOUS_CODING TUBB8 MODERATE|MISSENSE|cGg/cAg|R242Q|410|TUBB8|protein_coding|CODING|ENST00000272035|exon_10_92832_94054 0/1:63:60,0,253 . . . 10 93505 rs147114528 C T NON_SYNONYMOUS_CODING TUBB8 MODERATE|MISSENSE|cGg/cAg|R276Q|444|TUBB8|protein_coding|CODING|ENST00000328974|exon_10_92893_94054 0/1:63:60,0,253 . . . 10 402317 rs12358220 C T NON_SYNONYMOUS_CODING DIP2C MODERATE|MISSENSE|Gcc/Acc|A333T|371|DIP2C|protein_coding|CODING|ENST00000540204|exon_10_402180_402446 0/1:99:107,0,232 . . . 10 1060218 rs3207775 G A NON_SYNONYMOUS_CODING GTPBP4 MODERATE|MISSENSE|cGt/cAt|R409H|518|GTPBP4|protein_coding|CODING|ENST00000538293|exon_10_1060187_1060252 0/1:99:255,0,255 0/1:99:255,0,255 . . 10 1060218 rs3207775 G A NON_SYNONYMOUS_CODING GTPBP4 MODERATE|MISSENSE|cGt/cAt|R478H|587|GTPBP4|protein_coding|CODING|ENST00000545048|exon_10_1060187_1060252 0/1:99:255,0,255 0/1:99:255,0,255 . . 10 1060218 rs3207775 G A NON_SYNONYMOUS_CODING GTPBP4 MODERATE|MISSENSE|cGt/cAt|R525H|634|GTPBP4|protein_coding|CODING|ENST00000360803|exon_10_1060187_1060252 0/1:99:255,0,255 0/1:99:255,0,255 . . 10 1094909 rs4880760 C G NON_SYNONYMOUS_CODING IDI1 MODERATE|MISSENSE|gGc/gCc|G12A|284|IDI1|protein_coding|CODING|ENST00000381344|exon_10_1094804_1095110 . 0/1:99:185,0,191 . . 10 3181126 rs17849904 C T NON_SYNONYMOUS_CODING PITRM1 MODERATE|MISSENSE|Gta/Ata|V144I|184|PITRM1|protein_coding|CODING|ENST00000455371|exon_10_3180883_3181241 . . 0/1:99:219,0,255 . 10 3181126 rs17849904 C T NON_SYNONYMOUS_CODING PITRM1 MODERATE|MISSENSE|Gta/Ata|V521I|595|PITRM1|protein_coding|CODING|ENST00000380994|exon_10_3181096_3181241 . . 0/1:99:219,0,255 . 10 3181126 rs17849904 C T NON_SYNONYMOUS_CODING PITRM1 MODERATE|MISSENSE|Gta/Ata|V865I|939|PITRM1|protein_coding|CODING|ENST00000451104|exon_10_3181096_3181241 . . 0/1:99:219,0,255 . 10 3181126 rs17849904 C T NON_SYNONYMOUS_CODING PITRM1 MODERATE|MISSENSE|Gta/Ata|V956I|1030|PITRM1|protein_coding|CODING|ENST00000380980|exon_10_3181096_3181241 . . 0/1:99:219,0,255 . 10 3181126 rs17849904 C T NON_SYNONYMOUS_CODING PITRM1 MODERATE|MISSENSE|Gta/Ata|V963I|1037|PITRM1|protein_coding|CODING|ENST00000224949|exon_10_3181096_3181241 . . 0/1:99:219,0,255 . 10 3181126 rs17849904 C T NON_SYNONYMOUS_CODING PITRM1 MODERATE|MISSENSE|Gta/Ata|V964I|1038|PITRM1|protein_coding|CODING|ENST00000380989|exon_10_3181096_3181241 . . 0/1:99:219,0,255 . 10 3191830 rs41305673 G C NON_SYNONYMOUS_CODING PITRM1 MODERATE|MISSENSE|ttC/ttG|F176L|595|PITRM1|protein_coding|CODING|ENST00000380994|exon_10_3191813_3191945 0/1:99:242,0,255 . . . 10 3191830 rs41305673 G C NON_SYNONYMOUS_CODING PITRM1 MODERATE|MISSENSE|ttC/ttG|F586L|939|PITRM1|protein_coding|CODING|ENST00000451104|exon_10_3191813_3191945 0/1:99:242,0,255 . . . 10 3191830 rs41305673 G C NON_SYNONYMOUS_CODING PITRM1 MODERATE|MISSENSE|ttC/ttG|F611L|1030|PITRM1|protein_coding|CODING|ENST00000380980|exon_10_3191813_3191945 0/1:99:242,0,255 . . . 10 3191830 rs41305673 G C NON_SYNONYMOUS_CODING PITRM1 MODERATE|MISSENSE|ttC/ttG|F618L|1037|PITRM1|protein_coding|CODING|ENST00000224949|exon_10_3191813_3191945 0/1:99:242,0,255 . . . 10 3191830 rs41305673 G C NON_SYNONYMOUS_CODING PITRM1 MODERATE|MISSENSE|ttC/ttG|F618L|1038|PITRM1|protein_coding|CODING|ENST00000380989|exon_10_3191813_3191945 0/1:99:242,0,255 . . . 10 3214942 rs11818724 T C NON_SYNONYMOUS_CODING PITRM1 MODERATE|MISSENSE|cAg/cGg|Q8R|1037|PITRM1|protein_coding|CODING|ENST00000224949|exon_10_3214909_3214999 . . 0/1:61:58,0,79 . 10 3214942 rs11818724 T C NON_SYNONYMOUS_CODING PITRM1 MODERATE|MISSENSE|cAg/cGg|Q8R|1038|PITRM1|protein_coding|CODING|ENST00000380989|exon_10_3214909_3215003 . . 0/1:61:58,0,79 . 10 4872888 rs111857204 G A NON_SYNONYMOUS_CODING AKR1E2 MODERATE|MISSENSE|Gag/Aag|E21K|222|AKR1E2|protein_coding|CODING|ENST00000345253|exon_10_4872867_4873034 0/1:99:245,0,252 . . . 10 4872888 rs111857204 G A NON_SYNONYMOUS_CODING AKR1E2 MODERATE|MISSENSE|Gag/Aag|E21K|250|AKR1E2|protein_coding|CODING|ENST00000532248|exon_10_4872867_4873034 0/1:99:245,0,252 . . . 10 4872888 rs111857204 G A NON_SYNONYMOUS_CODING AKR1E2 MODERATE|MISSENSE|Gag/Aag|E21K|263|AKR1E2|protein_coding|CODING|ENST00000334019|exon_10_4872867_4873034 0/1:99:245,0,252 . . . 10 4872888 rs111857204 G A NON_SYNONYMOUS_CODING AKR1E2 MODERATE|MISSENSE|Gag/Aag|E21K|320|AKR1E2|protein_coding|CODING|ENST00000298375|exon_10_4872867_4873034 0/1:99:245,0,252 . . . 10 4872888 rs111857204 G A NON_SYNONYMOUS_CODING AKR1E2 MODERATE|MISSENSE|Gag/Aag|E25K|197|AKR1E2|protein_coding|CODING|ENST00000533295|exon_10_4872867_4873034 0/1:99:245,0,252 . . . 10 4872930 rs61745201 G A NON_SYNONYMOUS_CODING AKR1E2 MODERATE|MISSENSE|Gac/Aac|D35N|222|AKR1E2|protein_coding|CODING|ENST00000345253|exon_10_4872867_4873034 . . . 0/1:99:255,0,220 10 4872930 rs61745201 G A NON_SYNONYMOUS_CODING AKR1E2 MODERATE|MISSENSE|Gac/Aac|D35N|250|AKR1E2|protein_coding|CODING|ENST00000532248|exon_10_4872867_4873034 . . . 0/1:99:255,0,220 10 4872930 rs61745201 G A NON_SYNONYMOUS_CODING AKR1E2 MODERATE|MISSENSE|Gac/Aac|D35N|263|AKR1E2|protein_coding|CODING|ENST00000334019|exon_10_4872867_4873034 . . . 0/1:99:255,0,220 10 4872930 rs61745201 G A NON_SYNONYMOUS_CODING AKR1E2 MODERATE|MISSENSE|Gac/Aac|D35N|320|AKR1E2|protein_coding|CODING|ENST00000298375|exon_10_4872867_4873034 . . . 0/1:99:255,0,220 10 4872930 rs61745201 G A NON_SYNONYMOUS_CODING AKR1E2 MODERATE|MISSENSE|Gac/Aac|D39N|197|AKR1E2|protein_coding|CODING|ENST00000533295|exon_10_4872867_4873034 . . . 0/1:99:255,0,220 10 5139642 rs200981816 A G NON_SYNONYMOUS_CODING AKR1C3 MODERATE|MISSENSE|cAt/cGt|H90R|323|AKR1C3|protein_coding|CODING|ENST00000380554|exon_10_5139626_5139742 . . 0/1:99:255,0,255 . 10 5247784 rs3829125 C G NON_SYNONYMOUS_CODING AKR1C4 MODERATE|MISSENSE|tCt/tGt|S145C|323|AKR1C4|protein_coding|CODING|ENST00000263126|exon_10_5247720_5247797 . . 0/1:99:255,0,255 0/1:99:229,0,255 10 5247784 rs3829125 C G NON_SYNONYMOUS_CODING AKR1C4 MODERATE|MISSENSE|tCt/tGt|S145C|323|AKR1C4|protein_coding|CODING|ENST00000380448|exon_10_5247720_5247797 . . 0/1:99:255,0,255 0/1:99:229,0,255 10 5260682 rs17134592 C G NON_SYNONYMOUS_CODING AKR1C4 MODERATE|MISSENSE|Ctt/Gtt|L311V|323|AKR1C4|protein_coding|CODING|ENST00000263126|exon_10_5260681_5260912 . . 0/1:99:178,0,255 0/1:99:255,0,255 10 5260682 rs17134592 C G NON_SYNONYMOUS_CODING AKR1C4 MODERATE|MISSENSE|Ctt/Gtt|L311V|323|AKR1C4|protein_coding|CODING|ENST00000380448|exon_10_5260681_5260912 . . 0/1:99:178,0,255 0/1:99:255,0,255 10 5415954 rs10904481 A G NON_SYNONYMOUS_CODING UCN3 MODERATE|MISSENSE|Aga/Gga|R91G|161|UCN3|protein_coding|CODING|ENST00000380433|exon_10_5415678_5416169 . 0/1:99:129,0,123 . . 10 5436073 rs34080891 G A NON_SYNONYMOUS_CODING TUBAL3 MODERATE|MISSENSE|Cgg/Tgg|R210W|406|TUBAL3|protein_coding|CODING|ENST00000479328|exon_10_5435232_5436424 0/1:99:255,0,252 . . . 10 5436073 rs34080891 G A NON_SYNONYMOUS_CODING TUBAL3 MODERATE|MISSENSE|Cgg/Tgg|R250W|446|TUBAL3|protein_coding|CODING|ENST00000380419|exon_10_5435061_5436424 0/1:99:255,0,252 . . . 10 5781802 rs41310221 C A NON_SYNONYMOUS_CODING FAM208B MODERATE|MISSENSE|Ctt/Att|L557I|2430|FAM208B|protein_coding|CODING|ENST00000328090|exon_10_5781581_5782460 . . . 0/1:99:255,0,209 10 6266556 rs34235557 G A NON_SYNONYMOUS_CODING PFKFB3 MODERATE|MISSENSE|Gcc/Acc|A71T|86|PFKFB3|protein_coding|CODING|ENST00000444592|exon_10_6266469_6266586 0/1:99:178,0,219 . . . 10 6527221 rs142220465 A G NON_SYNONYMOUS_CODING PRKCQ MODERATE|MISSENSE|tTa/tCa|L179S|581|PRKCQ|protein_coding|CODING|ENST00000539722|exon_10_6527114_6527231 . . 0/1:99:208,0,223 . 10 6527221 rs142220465 A G NON_SYNONYMOUS_CODING PRKCQ MODERATE|MISSENSE|tTa/tCa|L304S|643|PRKCQ|protein_coding|CODING|ENST00000397176|exon_10_6527114_6527231 . . 0/1:99:208,0,223 . 10 6527221 rs142220465 A G NON_SYNONYMOUS_CODING PRKCQ MODERATE|MISSENSE|tTa/tCa|L304S|706|PRKCQ|protein_coding|CODING|ENST00000263125|exon_10_6527114_6527231 . . 0/1:99:208,0,223 . 10 7601770 rs7074077 G C NON_SYNONYMOUS_CODING ITIH5 MODERATE|MISSENSE|Ctg/Gtg|L692V|695|ITIH5|protein_coding|CODING|ENST00000397146|exon_10_7601756_7601845 0/1:99:231,0,251 0/1:99:212,0,204 0/1:99:237,0,228 . 10 7774317 rs41290291 T C NON_SYNONYMOUS_CODING ITIH2 MODERATE|MISSENSE|gTc/gCc|V544A|935|ITIH2|protein_coding|CODING|ENST00000379587|exon_10_7774301_7774440 . . 0/1:99:255,0,195 . 10 7774317 rs41290291 T C NON_SYNONYMOUS_CODING ITIH2 MODERATE|MISSENSE|gTc/gCc|V555A|946|ITIH2|protein_coding|CODING|ENST00000358415|exon_10_7774301_7774440 . . 0/1:99:255,0,195 . 10 7776968 rs202031792 C T NON_SYNONYMOUS_CODING ITIH2 MODERATE|MISSENSE|cCg/cTg|P613L|935|ITIH2|protein_coding|CODING|ENST00000379587|exon_10_7776885_7777054 . . . 0/1:99:255,0,201 10 7776968 rs202031792 C T NON_SYNONYMOUS_CODING ITIH2 MODERATE|MISSENSE|cCg/cTg|P624L|946|ITIH2|protein_coding|CODING|ENST00000358415|exon_10_7776885_7777054 . . . 0/1:99:255,0,201 10 8006266 rs41290305 A G NON_SYNONYMOUS_CODING TAF3 MODERATE|MISSENSE|Aca/Gca|T265A|282|TAF3|protein_coding|CODING|ENST00000542889|exon_10_8005883_8006298 . . 0/1:99:246,0,254 . 10 8006266 rs41290305 A G NON_SYNONYMOUS_CODING TAF3 MODERATE|MISSENSE|Aca/Gca|T265A|929|TAF3|protein_coding|CODING|ENST00000344293|exon_10_8005883_8007705 . . 0/1:99:246,0,254 . 10 11911764 rs117789748 G A NON_SYNONYMOUS_CODING C10orf47 MODERATE|MISSENSE|Ggg/Agg|G223R|341|C10orf47|protein_coding|CODING|ENST00000379208|exon_10_11911489_11911832 . . . 0/1:99:162,0,145 10 11911764 rs117789748 G A NON_SYNONYMOUS_CODING C10orf47 MODERATE|MISSENSE|Ggg/Agg|G223R|342|C10orf47|protein_coding|CODING|ENST00000379202|exon_10_11911489_11911832 . . . 0/1:99:162,0,145 10 11911764 rs117789748 G A NON_SYNONYMOUS_CODING C10orf47 MODERATE|MISSENSE|Ggg/Agg|G223R|435|C10orf47|protein_coding|CODING|ENST00000277570|exon_10_11911489_11914276 . . . 0/1:99:162,0,145 10 11911764 rs117789748 G A NON_SYNONYMOUS_CODING C10orf47 MODERATE|MISSENSE|Ggg/Agg|G27R|239|C10orf47|protein_coding|CODING|ENST00000379200|exon_10_11911643_11912874 . . . 0/1:99:162,0,145 10 11912332 rs12253554 C T NON_SYNONYMOUS_CODING C10orf47 MODERATE|MISSENSE|gCg/gTg|A216V|239|C10orf47|protein_coding|CODING|ENST00000379200|exon_10_11911643_11912874 . 0/1:99:146,0,162 0/1:96:142,0,93 . 10 11912332 rs12253554 C T NON_SYNONYMOUS_CODING C10orf47 MODERATE|MISSENSE|gCg/gTg|A318V|341|C10orf47|protein_coding|CODING|ENST00000379208|exon_10_11912115_11912872 . 0/1:99:146,0,162 0/1:96:142,0,93 . 10 11912332 rs12253554 C T NON_SYNONYMOUS_CODING C10orf47 MODERATE|MISSENSE|gCg/gTg|A319V|342|C10orf47|protein_coding|CODING|ENST00000379202|exon_10_11912112_11912405 . 0/1:99:146,0,162 0/1:96:142,0,93 . 10 11912332 rs12253554 C T NON_SYNONYMOUS_CODING C10orf47 MODERATE|MISSENSE|gCg/gTg|A412V|435|C10orf47|protein_coding|CODING|ENST00000277570|exon_10_11911489_11914276 . 0/1:99:146,0,162 0/1:96:142,0,93 . 10 13214427 rs17152897 A G NON_SYNONYMOUS_CODING MCM10 MODERATE|MISSENSE|aAa/aGa|K134R|855|MCM10|protein_coding|CODING|ENST00000378694|exon_10_13214376_13214480 . . 0/1:99:192,0,255 . 10 13214427 rs17152897 A G NON_SYNONYMOUS_CODING MCM10 MODERATE|MISSENSE|aAa/aGa|K134R|874|MCM10|protein_coding|CODING|ENST00000378714|exon_10_13214376_13214480 . . 0/1:99:192,0,255 . 10 13214427 rs17152897 A G NON_SYNONYMOUS_CODING MCM10 MODERATE|MISSENSE|aAa/aGa|K134R|875|MCM10|protein_coding|CODING|ENST00000361282|exon_10_13214376_13214480 . . 0/1:99:192,0,255 . 10 13214427 rs17152897 A G NON_SYNONYMOUS_CODING MCM10 MODERATE|MISSENSE|aAa/aGa|K134R|875|MCM10|protein_coding|CODING|ENST00000484800|exon_10_13214376_13214480 . . 0/1:99:192,0,255 . 10 13214427 rs17152897 A G NON_SYNONYMOUS_CODING MCM10 MODERATE|MISSENSE|aAa/aGa|K54R|68|MCM10|protein_coding|CODING|ENST00000479669|exon_10_13214376_13214474 . . 0/1:99:192,0,255 . 10 13340236 rs28938169 G A NON_SYNONYMOUS_CODING PHYH MODERATE|MISSENSE|Ccc/Tcc|P10S|321|PHYH|protein_coding|CODING|ENST00000396920|exon_10_13340187_13340241 . . . 0/1:99:249,0,255 10 13340236 rs28938169 G A NON_SYNONYMOUS_CODING PHYH MODERATE|MISSENSE|Ccc/Tcc|P29S|209|PHYH|protein_coding|CODING|ENST00000479604|exon_10_13340187_13340245 . . . 0/1:99:249,0,255 10 13340236 rs28938169 G A NON_SYNONYMOUS_CODING PHYH MODERATE|MISSENSE|Ccc/Tcc|P29S|338|PHYH|protein_coding|CODING|ENST00000263038|exon_10_13340187_13340245 . . . 0/1:99:249,0,255 10 15098897 rs12767853 C T NON_SYNONYMOUS_CODING OLAH MODERATE|MISSENSE|Cca/Tca|P80S|318|OLAH|protein_coding|CODING|ENST00000378217|exon_10_15098823_15098981 0/1:99:212,0,255 . 0/1:99:255,0,167 . 10 15098897 rs12767853 C T NON_SYNONYMOUS_CODING OLAH MODERATE|MISSENSE|Cca/Tca|P80S|95|OLAH|protein_coding|CODING|ENST00000413672|exon_10_15098823_15098949 0/1:99:212,0,255 . 0/1:99:255,0,167 . 10 15138615 rs7896053 C T NON_SYNONYMOUS_CODING C10orf111 MODERATE|MISSENSE|aGg/aAg|R70K|155|C10orf111|protein_coding|CODING|ENST00000378207|exon_10_15137384_15138864 . 0/1:99:249,0,189 . 0/1:99:206,0,217 10 15145855 rs15772 C G NON_SYNONYMOUS_CODING RPP38 MODERATE|MISSENSE|gCg/gGg|A181G|283|RPP38|protein_coding|CODING|ENST00000378197|exon_10_15145304_15146256 0/1:99:255,0,232 0/1:99:255,0,255 0/1:99:255,0,255 0/1:99:255,0,112 10 15145855 rs15772 C G NON_SYNONYMOUS_CODING RPP38 MODERATE|MISSENSE|gCg/gGg|A181G|283|RPP38|protein_coding|CODING|ENST00000378202|exon_10_15145304_15146254 0/1:99:255,0,232 0/1:99:255,0,255 0/1:99:255,0,255 0/1:99:255,0,112 10 15145855 rs15772 C G NON_SYNONYMOUS_CODING RPP38 MODERATE|MISSENSE|gCg/gGg|A181G|283|RPP38|protein_coding|CODING|ENST00000378203|exon_10_15145304_15146250 0/1:99:255,0,232 0/1:99:255,0,255 0/1:99:255,0,255 0/1:99:255,0,112 10 15145948 rs10242 T C NON_SYNONYMOUS_CODING RPP38 MODERATE|MISSENSE|aTt/aCt|I212T|283|RPP38|protein_coding|CODING|ENST00000378197|exon_10_15145304_15146256 . . . 0/1:99:255,0,209 10 15145948 rs10242 T C NON_SYNONYMOUS_CODING RPP38 MODERATE|MISSENSE|aTt/aCt|I212T|283|RPP38|protein_coding|CODING|ENST00000378202|exon_10_15145304_15146254 . . . 0/1:99:255,0,209 10 15145948 rs10242 T C NON_SYNONYMOUS_CODING RPP38 MODERATE|MISSENSE|aTt/aCt|I212T|283|RPP38|protein_coding|CODING|ENST00000378203|exon_10_15145304_15146250 . . . 0/1:99:255,0,209 10 15701045 . T A NON_SYNONYMOUS_CODING ITGA8 MODERATE|MISSENSE|Att/Ttt|I286F|1048|ITGA8|protein_coding|CODING|ENST00000538044|exon_10_15700998_15701054 0/1:99:255,0,255 . . . 10 15701045 . T A NON_SYNONYMOUS_CODING ITGA8 MODERATE|MISSENSE|Att/Ttt|I301F|1063|ITGA8|protein_coding|CODING|ENST00000378076|exon_10_15700998_15701054 0/1:99:255,0,255 . . . 10 16870912 rs1801232 G T NON_SYNONYMOUS_CODING CUBN MODERATE|MISSENSE|aaC/aaA|N3552K|3623|CUBN|protein_coding|CODING|ENST00000377833|exon_10_16870804_16871039 0/1:99:236,0,241 . . . 10 16870912 rs1801232 G T NON_SYNONYMOUS_CODING CUBN MODERATE|MISSENSE|aaC/aaA|N393K|464|CUBN|protein_coding|CODING|ENST00000545090|exon_10_16870804_16871039 0/1:99:236,0,241 . . . 10 16878312 . T C NON_SYNONYMOUS_CODING CUBN MODERATE|MISSENSE|Atg/Gtg|M209V|464|CUBN|protein_coding|CODING|ENST00000545090|exon_10_16878234_16878381 0/1:99:255,0,243 . . . 10 16878312 . T C NON_SYNONYMOUS_CODING CUBN MODERATE|MISSENSE|Atg/Gtg|M3368V|3623|CUBN|protein_coding|CODING|ENST00000377833|exon_10_16878234_16878381 0/1:99:255,0,243 . . . 10 17657875 rs45509295 A T NON_SYNONYMOUS_CODING PTPLA MODERATE|MISSENSE|Tcc/Acc|S115T|157|PTPLA|protein_coding|CODING|ENST00000326961|exon_10_17657476_17657960 0/1:99:101,0,236 . . . 10 17659265 rs118189437 G C NON_SYNONYMOUS_CODING PTPLA MODERATE|MISSENSE|aCg/aGg|T25R|157|PTPLA|protein_coding|CODING|ENST00000326961|exon_10_17659082_17659367 0/1:46:100,0,43 . . . 10 17659265 rs118189437 G C NON_SYNONYMOUS_CODING PTPLA MODERATE|MISSENSE|aCg/aGg|T25R|288|PTPLA|protein_coding|CODING|ENST00000361271|exon_10_17659082_17659376 0/1:46:100,0,43 . . . 10 18828358 . G C NON_SYNONYMOUS_CODING CACNB2 MODERATE|MISSENSE|cGa/cCa|R313P|410|CACNB2|protein_coding|CODING|ENST00000377328|exon_10_18828159_18828653 . 0/1:99:255,0,230 . . 10 18828358 . G C NON_SYNONYMOUS_CODING CACNB2 MODERATE|MISSENSE|cGa/cCa|R470P|567|CACNB2|protein_coding|CODING|ENST00000377319|exon_10_18828159_18830056 . 0/1:99:255,0,230 . . 10 18828358 . G C NON_SYNONYMOUS_CODING CACNB2 MODERATE|MISSENSE|cGa/cCa|R508P|605|CACNB2|protein_coding|CODING|ENST00000396576|exon_10_18828159_18830798 . 0/1:99:255,0,230 . . 10 18828358 . G C NON_SYNONYMOUS_CODING CACNB2 MODERATE|MISSENSE|cGa/cCa|R509P|606|CACNB2|protein_coding|CODING|ENST00000377329|exon_10_18828159_18830038 . 0/1:99:255,0,230 . . 10 18828358 . G C NON_SYNONYMOUS_CODING CACNB2 MODERATE|MISSENSE|cGa/cCa|R511P|608|CACNB2|protein_coding|CODING|ENST00000377331|exon_10_18828159_18828653 . 0/1:99:255,0,230 . . 10 18828358 . G C NON_SYNONYMOUS_CODING CACNB2 MODERATE|MISSENSE|cGa/cCa|R515P|612|CACNB2|protein_coding|CODING|ENST00000377315|exon_10_18828159_18830056 . 0/1:99:255,0,230 . . 10 18828358 . G C NON_SYNONYMOUS_CODING CACNB2 MODERATE|MISSENSE|cGa/cCa|R535P|632|CACNB2|protein_coding|CODING|ENST00000282343|exon_10_18828159_18830056 . 0/1:99:255,0,230 . . 10 18828358 . G C NON_SYNONYMOUS_CODING CACNB2 MODERATE|MISSENSE|cGa/cCa|R539P|636|CACNB2|protein_coding|CODING|ENST00000352115|exon_10_18828159_18828653 . 0/1:99:255,0,230 . . 10 18828358 . G C NON_SYNONYMOUS_CODING CACNB2 MODERATE|MISSENSE|cGa/cCa|R563P|660|CACNB2|protein_coding|CODING|ENST00000324631|exon_10_18828159_18830056 . 0/1:99:255,0,230 . . 10 19676553 rs12773592 A G NON_SYNONYMOUS_CODING C10orf112 MODERATE|MISSENSE|gAt/gGt|D76G|257|C10orf112|protein_coding|CODING|ENST00000441070|exon_10_19676457_19676702 . . 0/1:99:175,0,255 . 10 19676553 rs12773592 A G NON_SYNONYMOUS_CODING C10orf112 MODERATE|MISSENSE|gAt/gGt|D809G|1473|C10orf112|protein_coding|CODING|ENST00000454679|exon_10_19676457_19676702 . . 0/1:99:175,0,255 . 10 19676553 rs12773592 A G NON_SYNONYMOUS_CODING C10orf112 MODERATE|MISSENSE|gAt/gGt|D822G|1486|C10orf112|protein_coding|CODING|ENST00000377266|exon_10_19676457_19676702 . . 0/1:99:175,0,255 . 10 19676561 rs12771333 G A NON_SYNONYMOUS_CODING C10orf112 MODERATE|MISSENSE|Gag/Aag|E79K|257|C10orf112|protein_coding|CODING|ENST00000441070|exon_10_19676457_19676702 . . 0/1:99:191,0,255 . 10 19676561 rs12771333 G A NON_SYNONYMOUS_CODING C10orf112 MODERATE|MISSENSE|Gag/Aag|E812K|1473|C10orf112|protein_coding|CODING|ENST00000454679|exon_10_19676457_19676702 . . 0/1:99:191,0,255 . 10 19676561 rs12771333 G A NON_SYNONYMOUS_CODING C10orf112 MODERATE|MISSENSE|Gag/Aag|E825K|1486|C10orf112|protein_coding|CODING|ENST00000377266|exon_10_19676457_19676702 . . 0/1:99:191,0,255 . 10 19678449 rs78832888 A G NON_SYNONYMOUS_CODING C10orf112 MODERATE|MISSENSE|Atg/Gtg|M149V|257|C10orf112|protein_coding|CODING|ENST00000441070|exon_10_19678381_19678538 . 0/1:53:255,0,50 . . 10 19678449 rs78832888 A G NON_SYNONYMOUS_CODING C10orf112 MODERATE|MISSENSE|Atg/Gtg|M942V|1473|C10orf112|protein_coding|CODING|ENST00000454679|exon_10_19678381_19678538 . 0/1:53:255,0,50 . . 10 19678449 rs78832888 A G NON_SYNONYMOUS_CODING C10orf112 MODERATE|MISSENSE|Atg/Gtg|M955V|1486|C10orf112|protein_coding|CODING|ENST00000377266|exon_10_19678381_19678538 . 0/1:53:255,0,50 . . 10 19780463 rs16918863 C A NON_SYNONYMOUS_CODING C10orf112 MODERATE|MISSENSE|Ctt/Att|L1049I|1473|C10orf112|protein_coding|CODING|ENST00000454679|exon_10_19780446_19780574 . . . 0/1:99:255,0,255 10 19780463 rs16918863 C A NON_SYNONYMOUS_CODING C10orf112 MODERATE|MISSENSE|Ctt/Att|L1062I|1486|C10orf112|protein_coding|CODING|ENST00000377266|exon_10_19780446_19780574 . . . 0/1:99:255,0,255 10 19780463 rs16918863 C A NON_SYNONYMOUS_CODING C10orf112 MODERATE|MISSENSE|Ctt/Att|L246I|257|C10orf112|protein_coding|CODING|ENST00000441070|exon_10_19780446_19780501 . . . 0/1:99:255,0,255 10 19787418 rs12256835 T G NON_SYNONYMOUS_CODING C10orf112 MODERATE|MISSENSE|caT/caG|H1087Q|1473|C10orf112|protein_coding|CODING|ENST00000454679|exon_10_19787414_19787575 . . 1/1:99:255,105,0 0/1:99:255,0,255 10 19787418 rs12256835 T G NON_SYNONYMOUS_CODING C10orf112 MODERATE|MISSENSE|caT/caG|H1100Q|1486|C10orf112|protein_coding|CODING|ENST00000377266|exon_10_19787414_19787575 . . 1/1:99:255,105,0 0/1:99:255,0,255 10 21102939 rs148179937 C G NON_SYNONYMOUS_CODING NEBL MODERATE|MISSENSE|Ggt/Cgt|G759R|1014|NEBL|protein_coding|CODING|ENST00000377122|exon_10_21102868_21102972 . . . 0/1:99:255,0,255 10 21129704 rs202112717 G C NON_SYNONYMOUS_CODING NEBL MODERATE|MISSENSE|atC/atG|I434M|1014|NEBL|protein_coding|CODING|ENST00000377122|exon_10_21129668_21129778 0/1:99:255,0,253 . . . 10 21415006 rs11591355 T C NON_SYNONYMOUS_CODING C10orf113 MODERATE|MISSENSE|Agg/Ggg|R62G|145|C10orf113|protein_coding|CODING|ENST00000377118|exon_10_21414693_21415052 . 0/1:99:239,0,238 0/1:99:200,0,255 . 10 21415006 rs11591355 T C NON_SYNONYMOUS_CODING C10orf113 MODERATE|MISSENSE|Agg/Ggg|R72G|155|C10orf113|protein_coding|CODING|ENST00000534331|exon_10_21414692_21415052 . 0/1:99:239,0,238 0/1:99:200,0,255 . 10 21415036 rs72796574 G A NON_SYNONYMOUS_CODING C10orf113 MODERATE|MISSENSE|Cgg/Tgg|R52W|145|C10orf113|protein_coding|CODING|ENST00000377118|exon_10_21414693_21415052 . 0/1:99:252,0,250 . . 10 21415036 rs72796574 G A NON_SYNONYMOUS_CODING C10orf113 MODERATE|MISSENSE|Cgg/Tgg|R62W|155|C10orf113|protein_coding|CODING|ENST00000534331|exon_10_21414692_21415052 . 0/1:99:252,0,250 . . 10 22193511 rs199829427 C T NON_SYNONYMOUS_CODING DNAJC1 MODERATE|MISSENSE|Gaa/Aaa|E254K|554|DNAJC1|protein_coding|CODING|ENST00000376980|exon_10_22193451_22193541 0/1:99:255,0,255 . . . 10 22605438 rs140293380 C A NON_SYNONYMOUS_CODING COMMD3 MODERATE|MISSENSE|gCg/gAg|A31E|162|COMMD3|protein_coding|CODING|ENST00000376787|exon_10_22605338_22605485 . . . 0/1:99:105,0,100 10 22605438 rs140293380 C A NON_SYNONYMOUS_CODING COMMD3 MODERATE|MISSENSE|gCg/gAg|A31E|177|COMMD3|protein_coding|CODING|ENST00000376776|exon_10_22605338_22605485 . . . 0/1:99:105,0,100 10 22605438 rs140293380 C A NON_SYNONYMOUS_CODING COMMD3 MODERATE|MISSENSE|gCg/gAg|A31E|195|COMMD3|protein_coding|CODING|ENST00000376836|exon_10_22604903_22605485 . . . 0/1:99:105,0,100 10 22839628 rs2230469 T C NON_SYNONYMOUS_CODING PIP4K2A MODERATE|MISSENSE|aAc/aGc|N111S|266|PIP4K2A|protein_coding|CODING|ENST00000323883|exon_10_22839588_22839701 1/1:99:255,78,0 . 0/1:99:255,0,255 . 10 22839628 rs2230469 T C NON_SYNONYMOUS_CODING PIP4K2A MODERATE|MISSENSE|aAc/aGc|N192S|347|PIP4K2A|protein_coding|CODING|ENST00000545335|exon_10_22839588_22839701 1/1:99:255,78,0 . 0/1:99:255,0,255 . 10 22839628 rs2230469 T C NON_SYNONYMOUS_CODING PIP4K2A MODERATE|MISSENSE|aAc/aGc|N251S|406|PIP4K2A|protein_coding|CODING|ENST00000376573|exon_10_22839588_22839701 1/1:99:255,78,0 . 0/1:99:255,0,255 . 10 23297252 rs10828395 G A NON_SYNONYMOUS_CODING ARMC3 MODERATE|MISSENSE|cGa/cAa|R363Q|609|ARMC3|protein_coding|CODING|ENST00000376528|exon_10_23297205_23297303 . . 0/1:99:255,0,255 . 10 23297252 rs10828395 G A NON_SYNONYMOUS_CODING ARMC3 MODERATE|MISSENSE|cGa/cAa|R626Q|688|ARMC3|protein_coding|CODING|ENST00000409049|exon_10_23297205_23297303 . . 0/1:99:255,0,255 . 10 23297252 rs10828395 G A NON_SYNONYMOUS_CODING ARMC3 MODERATE|MISSENSE|cGa/cAa|R626Q|865|ARMC3|protein_coding|CODING|ENST00000409983|exon_10_23297205_23297303 . . 0/1:99:255,0,255 . 10 23297252 rs10828395 G A NON_SYNONYMOUS_CODING ARMC3 MODERATE|MISSENSE|cGa/cAa|R626Q|872|ARMC3|protein_coding|CODING|ENST00000298032|exon_10_23297205_23297303 . . 0/1:99:255,0,255 . 10 25226171 . C T NON_SYNONYMOUS_CODING PRTFDC1 MODERATE|MISSENSE|cGa/cAa|R94Q|173|PRTFDC1|protein_coding|CODING|ENST00000376376|exon_10_25226113_25226296 . . 0/1:99:255,0,255 . 10 25226171 . C T NON_SYNONYMOUS_CODING PRTFDC1 MODERATE|MISSENSE|cGa/cAa|R94Q|190|PRTFDC1|protein_coding|CODING|ENST00000358336|exon_10_25226113_25226296 . . 0/1:99:255,0,255 . 10 25226171 . C T NON_SYNONYMOUS_CODING PRTFDC1 MODERATE|MISSENSE|cGa/cAa|R94Q|190|PRTFDC1|protein_coding|CODING|ENST00000376378|exon_10_25226113_25226296 . . 0/1:99:255,0,255 . 10 25226171 . C T NON_SYNONYMOUS_CODING PRTFDC1 MODERATE|MISSENSE|cGa/cAa|R94Q|225|PRTFDC1|protein_coding|CODING|ENST00000320152|exon_10_25226113_25226296 . . 0/1:99:255,0,255 . 10 25312895 rs34929144 C A NON_SYNONYMOUS_CODING THNSL1 MODERATE|MISSENSE|gCa/gAa|A248E|743|THNSL1|protein_coding|CODING|ENST00000376356|exon_10_25312105_25315593 . 0/1:99:255,0,255 . . 10 25312895 rs34929144 C A NON_SYNONYMOUS_CODING THNSL1 MODERATE|MISSENSE|gCa/gAa|A248E|743|THNSL1|protein_coding|CODING|ENST00000524413|exon_10_25312105_25315593 . 0/1:99:255,0,255 . . 10 27306678 rs146159734 C T NON_SYNONYMOUS_CODING ANKRD26 MODERATE|MISSENSE|tGt/tAt|C1420Y|1710|ANKRD26|protein_coding|CODING|ENST00000376087|exon_10_27306431_27306721 . . . 0/1:99:255,0,255 10 27306678 rs146159734 C T NON_SYNONYMOUS_CODING ANKRD26 MODERATE|MISSENSE|tGt/tAt|C1436Y|1726|ANKRD26|protein_coding|CODING|ENST00000436985|exon_10_27306431_27306721 . . . 0/1:99:255,0,255 10 27306678 rs146159734 C T NON_SYNONYMOUS_CODING ANKRD26 MODERATE|MISSENSE|tGt/tAt|C977Y|1267|ANKRD26|protein_coding|CODING|ENST00000376070|exon_10_27306431_27306721 . . . 0/1:99:255,0,255 10 27322303 rs12572862 C G NON_SYNONYMOUS_CODING ANKRD26 MODERATE|MISSENSE|Gtt/Ctt|V1220L|1710|ANKRD26|protein_coding|CODING|ENST00000376087|exon_10_27322154_27322306 0/1:99:255,0,255 . . . 10 27322303 rs12572862 C G NON_SYNONYMOUS_CODING ANKRD26 MODERATE|MISSENSE|Gtt/Ctt|V1236L|1726|ANKRD26|protein_coding|CODING|ENST00000436985|exon_10_27322154_27322306 0/1:99:255,0,255 . . . 10 27322303 rs12572862 C G NON_SYNONYMOUS_CODING ANKRD26 MODERATE|MISSENSE|Gtt/Ctt|V777L|1267|ANKRD26|protein_coding|CODING|ENST00000376070|exon_10_27322154_27322306 0/1:99:255,0,255 . . . 10 27342285 . CTCTTCTTCT CTCTTCT CODON_DELETION ANKRD26 MODERATE||tcagaa/tca|SE530S|1710|ANKRD26|protein_coding|CODING|ENST00000376087|exon_10_27342249_27342319 0/1:99:255,0,255 . . . 10 27342285 . CTCTTCTTCT CTCTTCT CODON_DELETION ANKRD26 MODERATE||tcagaa/tca|SE546S|1726|ANKRD26|protein_coding|CODING|ENST00000436985|exon_10_27342249_27342319 0/1:99:255,0,255 . . . 10 27382652 . T C NON_SYNONYMOUS_CODING ANKRD26 MODERATE|MISSENSE|Aat/Gat|N107D|1710|ANKRD26|protein_coding|CODING|ENST00000376087|exon_10_27382614_27382728 . . 0/1:99:255,0,255 . 10 27382652 . T C NON_SYNONYMOUS_CODING ANKRD26 MODERATE|MISSENSE|Aat/Gat|N107D|1726|ANKRD26|protein_coding|CODING|ENST00000436985|exon_10_27382614_27382728 . . 0/1:99:255,0,255 . 10 27459746 rs3802526 C G NON_SYNONYMOUS_CODING MASTL MODERATE|MISSENSE|Cca/Gca|P620A|840|MASTL|protein_coding|CODING|ENST00000342386|exon_10_27458873_27460012 0/1:99:255,0,255 . . . 10 27459746 rs3802526 C G NON_SYNONYMOUS_CODING MASTL MODERATE|MISSENSE|Cca/Gca|P620A|878|MASTL|protein_coding|CODING|ENST00000375946|exon_10_27458873_27460012 0/1:99:255,0,255 . . . 10 27459746 rs3802526 C G NON_SYNONYMOUS_CODING MASTL MODERATE|MISSENSE|Cca/Gca|P620A|879|MASTL|protein_coding|CODING|ENST00000375940|exon_10_27458873_27460012 0/1:99:255,0,255 . . . 10 27459818 rs140163549 A C NON_SYNONYMOUS_CODING MASTL MODERATE|MISSENSE|Aaa/Caa|K644Q|840|MASTL|protein_coding|CODING|ENST00000342386|exon_10_27458873_27460012 . . . 0/1:99:255,0,255 10 27459818 rs140163549 A C NON_SYNONYMOUS_CODING MASTL MODERATE|MISSENSE|Aaa/Caa|K644Q|878|MASTL|protein_coding|CODING|ENST00000375946|exon_10_27458873_27460012 . . . 0/1:99:255,0,255 10 27459818 rs140163549 A C NON_SYNONYMOUS_CODING MASTL MODERATE|MISSENSE|Aaa/Caa|K644Q|879|MASTL|protein_coding|CODING|ENST00000375940|exon_10_27458873_27460012 . . . 0/1:99:255,0,255 10 28024177 rs34806745 C T NON_SYNONYMOUS_CODING MKX MODERATE|MISSENSE|Gta/Ata|V159I|289|MKX|protein_coding|CODING|ENST00000460919|exon_10_28024150_28024303 . 0/1:99:255,0,255 . . 10 28024177 rs34806745 C T NON_SYNONYMOUS_CODING MKX MODERATE|MISSENSE|Gta/Ata|V159I|352|MKX|protein_coding|CODING|ENST00000375790|exon_10_28024150_28024303 . 0/1:99:255,0,255 . . 10 28024177 rs34806745 C T NON_SYNONYMOUS_CODING MKX MODERATE|MISSENSE|Gta/Ata|V159I|352|MKX|protein_coding|CODING|ENST00000419761|exon_10_28024150_28024303 . 0/1:99:255,0,255 . . 10 28250610 rs147175768 C A NON_SYNONYMOUS_CODING ARMC4 MODERATE|MISSENSE|Gat/Tat|D117Y|206|ARMC4|protein_coding|CODING|ENST00000537573|exon_10_28250497_28250644 . . 0/1:58:55,0,255 0/1:73:70,0,255 10 28250610 rs147175768 C A NON_SYNONYMOUS_CODING ARMC4 MODERATE|MISSENSE|Gat/Tat|D117Y|705|ARMC4|protein_coding|CODING|ENST00000537576|exon_10_28250497_28250644 . . 0/1:58:55,0,255 0/1:73:70,0,255 10 28250610 rs147175768 C A NON_SYNONYMOUS_CODING ARMC4 MODERATE|MISSENSE|Gat/Tat|D282Y|352|ARMC4|protein_coding|CODING|ENST00000239715|exon_10_28250497_28250644 . . 0/1:58:55,0,255 0/1:73:70,0,255 10 28250610 rs147175768 C A NON_SYNONYMOUS_CODING ARMC4 MODERATE|MISSENSE|Gat/Tat|D319Y|389|ARMC4|protein_coding|CODING|ENST00000434029|exon_10_28250497_28250644 . . 0/1:58:55,0,255 0/1:73:70,0,255 10 28250610 rs147175768 C A NON_SYNONYMOUS_CODING ARMC4 MODERATE|MISSENSE|Gat/Tat|D425Y|1044|ARMC4|protein_coding|CODING|ENST00000305242|exon_10_28250497_28250644 . . 0/1:58:55,0,255 0/1:73:70,0,255 10 29754535 rs17694739 G A NON_SYNONYMOUS_CODING SVIL MODERATE|MISSENSE|gCg/gTg|A1615V|1788|SVIL|protein_coding|CODING|ENST00000375400|exon_10_29754524_29754679 . . 1/1:99:255,93,0 . 10 29754535 rs17694739 G A NON_SYNONYMOUS_CODING SVIL MODERATE|MISSENSE|gCg/gTg|A2041V|2214|SVIL|protein_coding|CODING|ENST00000355867|exon_10_29754524_29754679 . . 1/1:99:255,93,0 . 10 29754535 rs17694739 G A NON_SYNONYMOUS_CODING SVIL MODERATE|MISSENSE|gCg/gTg|A2041V|2214|SVIL|protein_coding|CODING|ENST00000375398|exon_10_29754524_29754679 . . 1/1:99:255,93,0 . 10 29754535 rs17694739 G A NON_SYNONYMOUS_CODING SVIL MODERATE|MISSENSE|gCg/gTg|A955V|1128|SVIL|protein_coding|CODING|ENST00000535393|exon_10_29754524_29754679 . . 1/1:99:255,93,0 . 10 29769589 rs61737920 C T NON_SYNONYMOUS_CODING SVIL MODERATE|MISSENSE|Gtt/Att|V1326I|1788|SVIL|protein_coding|CODING|ENST00000375400|exon_10_29769466_29769742 . . . 0/1:99:235,0,170 10 29769589 rs61737920 C T NON_SYNONYMOUS_CODING SVIL MODERATE|MISSENSE|Gtt/Att|V1752I|2214|SVIL|protein_coding|CODING|ENST00000355867|exon_10_29769466_29769742 . . . 0/1:99:235,0,170 10 29769589 rs61737920 C T NON_SYNONYMOUS_CODING SVIL MODERATE|MISSENSE|Gtt/Att|V1752I|2214|SVIL|protein_coding|CODING|ENST00000375398|exon_10_29769466_29769742 . . . 0/1:99:235,0,170 10 29769589 rs61737920 C T NON_SYNONYMOUS_CODING SVIL MODERATE|MISSENSE|Gtt/Att|V544I|585|SVIL|protein_coding|CODING|ENST00000538146|exon_10_29769090_29769742 . . . 0/1:99:235,0,170 10 29769589 rs61737920 C T NON_SYNONYMOUS_CODING SVIL MODERATE|MISSENSE|Gtt/Att|V666I|1128|SVIL|protein_coding|CODING|ENST00000535393|exon_10_29769466_29769742 . . . 0/1:99:235,0,170 10 29769589 rs61737920 C T NON_SYNONYMOUS_CODING SVIL MODERATE|MISSENSE|Gtt/Att|V706I|766|SVIL|protein_coding|CODING|ENST00000535994|exon_10_29769466_29769742 . . . 0/1:99:235,0,170 10 29770551 rs11007612 A G NON_SYNONYMOUS_CODING SVIL MODERATE|MISSENSE|Tcg/Ccg|S1262P|1788|SVIL|protein_coding|CODING|ENST00000375400|exon_10_29770513_29770657 . . 1/1:99:255,72,0 . 10 29770551 rs11007612 A G NON_SYNONYMOUS_CODING SVIL MODERATE|MISSENSE|Tcg/Ccg|S1688P|2214|SVIL|protein_coding|CODING|ENST00000355867|exon_10_29770513_29770657 . . 1/1:99:255,72,0 . 10 29770551 rs11007612 A G NON_SYNONYMOUS_CODING SVIL MODERATE|MISSENSE|Tcg/Ccg|S1688P|2214|SVIL|protein_coding|CODING|ENST00000375398|exon_10_29770513_29770657 . . 1/1:99:255,72,0 . 10 29770551 rs11007612 A G NON_SYNONYMOUS_CODING SVIL MODERATE|MISSENSE|Tcg/Ccg|S480P|585|SVIL|protein_coding|CODING|ENST00000538146|exon_10_29770513_29770657 . . 1/1:99:255,72,0 . 10 29770551 rs11007612 A G NON_SYNONYMOUS_CODING SVIL MODERATE|MISSENSE|Tcg/Ccg|S602P|1128|SVIL|protein_coding|CODING|ENST00000535393|exon_10_29770513_29770657 . . 1/1:99:255,72,0 . 10 29770551 rs11007612 A G NON_SYNONYMOUS_CODING SVIL MODERATE|MISSENSE|Tcg/Ccg|S642P|766|SVIL|protein_coding|CODING|ENST00000535994|exon_10_29770513_29770657 . . 1/1:99:255,72,0 . 10 29779914 rs148355552 C T NON_SYNONYMOUS_CODING SVIL MODERATE|MISSENSE|Gtt/Att|V1352I|2214|SVIL|protein_coding|CODING|ENST00000355867|exon_10_29779776_29779948 . . . 0/1:99:240,0,136 10 29779914 rs148355552 C T NON_SYNONYMOUS_CODING SVIL MODERATE|MISSENSE|Gtt/Att|V1352I|2214|SVIL|protein_coding|CODING|ENST00000375398|exon_10_29779776_29779948 . . . 0/1:99:240,0,136 10 29779914 rs148355552 C T NON_SYNONYMOUS_CODING SVIL MODERATE|MISSENSE|Gtt/Att|V144I|585|SVIL|protein_coding|CODING|ENST00000538146|exon_10_29779776_29779948 . . . 0/1:99:240,0,136 10 29779914 rs148355552 C T NON_SYNONYMOUS_CODING SVIL MODERATE|MISSENSE|Gtt/Att|V266I|1128|SVIL|protein_coding|CODING|ENST00000535393|exon_10_29779776_29779948 . . . 0/1:99:240,0,136 10 29779914 rs148355552 C T NON_SYNONYMOUS_CODING SVIL MODERATE|MISSENSE|Gtt/Att|V306I|766|SVIL|protein_coding|CODING|ENST00000535994|exon_10_29779776_29779948 . . . 0/1:99:240,0,136 10 29779914 rs148355552 C T NON_SYNONYMOUS_CODING SVIL MODERATE|MISSENSE|Gtt/Att|V926I|1788|SVIL|protein_coding|CODING|ENST00000375400|exon_10_29779776_29779948 . . . 0/1:99:240,0,136 10 31137481 rs142346319 C T NON_SYNONYMOUS_CODING ZNF438 MODERATE|MISSENSE|gGc/gAc|G182D|392|ZNF438|protein_coding|CODING|ENST00000375311|exon_10_31137460_31138372 0/1:99:250,0,255 . . . 10 31137481 rs142346319 C T NON_SYNONYMOUS_CODING ZNF438 MODERATE|MISSENSE|gGc/gAc|G337D|547|ZNF438|protein_coding|CODING|ENST00000430896|exon_10_31137460_31138218 0/1:99:250,0,255 . . . 10 31137481 rs142346319 C T NON_SYNONYMOUS_CODING ZNF438 MODERATE|MISSENSE|gGc/gAc|G569D|779|ZNF438|protein_coding|CODING|ENST00000538351|exon_10_31137460_31139296 0/1:99:250,0,255 . . . 10 31137481 rs142346319 C T NON_SYNONYMOUS_CODING ZNF438 MODERATE|MISSENSE|gGc/gAc|G608D|818|ZNF438|protein_coding|CODING|ENST00000331737|exon_10_31137460_31139296 0/1:99:250,0,255 . . . 10 31137481 rs142346319 C T NON_SYNONYMOUS_CODING ZNF438 MODERATE|MISSENSE|gGc/gAc|G608D|818|ZNF438|protein_coding|CODING|ENST00000444692|exon_10_31137460_31139296 0/1:99:250,0,255 . . . 10 31137481 rs142346319 C T NON_SYNONYMOUS_CODING ZNF438 MODERATE|MISSENSE|gGc/gAc|G608D|818|ZNF438|protein_coding|CODING|ENST00000452305|exon_10_31137460_31139296 0/1:99:250,0,255 . . . 10 31137481 rs142346319 C T NON_SYNONYMOUS_CODING ZNF438 MODERATE|MISSENSE|gGc/gAc|G618D|828|ZNF438|protein_coding|CODING|ENST00000361310|exon_10_31137460_31139296 0/1:99:250,0,255 . . . 10 31137481 rs142346319 C T NON_SYNONYMOUS_CODING ZNF438 MODERATE|MISSENSE|gGc/gAc|G618D|828|ZNF438|protein_coding|CODING|ENST00000413025|exon_10_31137460_31139296 0/1:99:250,0,255 . . . 10 31137481 rs142346319 C T NON_SYNONYMOUS_CODING ZNF438 MODERATE|MISSENSE|gGc/gAc|G618D|828|ZNF438|protein_coding|CODING|ENST00000436087|exon_10_31137460_31139296 0/1:99:250,0,255 . . . 10 31137481 rs142346319 C T NON_SYNONYMOUS_CODING ZNF438 MODERATE|MISSENSE|gGc/gAc|G618D|828|ZNF438|protein_coding|CODING|ENST00000442986|exon_10_31137460_31139296 0/1:99:250,0,255 . . . 10 32580205 rs72789797 C T NON_SYNONYMOUS_CODING EPC1 MODERATE|MISSENSE|atG/atA|M237I|763|EPC1|protein_coding|CODING|ENST00000375110|exon_10_32580091_32580250 . . 0/1:99:243,0,255 0/1:99:253,0,255 10 32580205 rs72789797 C T NON_SYNONYMOUS_CODING EPC1 MODERATE|MISSENSE|atG/atA|M287I|813|EPC1|protein_coding|CODING|ENST00000319778|exon_10_32580091_32580250 . . 0/1:99:243,0,255 0/1:99:253,0,255 10 32580205 rs72789797 C T NON_SYNONYMOUS_CODING EPC1 MODERATE|MISSENSE|atG/atA|M287I|836|EPC1|protein_coding|CODING|ENST00000263062|exon_10_32580091_32580250 . . 0/1:99:243,0,255 0/1:99:253,0,255 10 32745248 rs56391924 A C NON_SYNONYMOUS_CODING CCDC7 MODERATE|MISSENSE|Aaa/Caa|K148Q|171|CCDC7|protein_coding|CODING|ENST00000535327|exon_10_32745179_32745262 0/1:99:255,0,255 0/1:99:255,0,255 . . 10 32745248 rs56391924 A C NON_SYNONYMOUS_CODING CCDC7 MODERATE|MISSENSE|Aaa/Caa|K148Q|171|CCDC7|protein_coding|CODING|ENST00000545067|exon_10_32745179_32745262 0/1:99:255,0,255 0/1:99:255,0,255 . . 10 32745248 rs56391924 A C NON_SYNONYMOUS_CODING CCDC7 MODERATE|MISSENSE|Aaa/Caa|K148Q|173|CCDC7|protein_coding|CODING|ENST00000539197|exon_10_32745179_32745262 0/1:99:255,0,255 0/1:99:255,0,255 . . 10 32745248 rs56391924 A C NON_SYNONYMOUS_CODING CCDC7 MODERATE|MISSENSE|Aaa/Caa|K148Q|175|CCDC7|protein_coding|CODING|ENST00000537047|exon_10_32745179_32745262 0/1:99:255,0,255 0/1:99:255,0,255 . . 10 32745248 rs56391924 A C NON_SYNONYMOUS_CODING CCDC7 MODERATE|MISSENSE|Aaa/Caa|K148Q|278|CCDC7|protein_coding|CODING|ENST00000324147|exon_10_32745179_32745287 0/1:99:255,0,255 0/1:99:255,0,255 . . 10 32745248 rs56391924 A C NON_SYNONYMOUS_CODING CCDC7 MODERATE|MISSENSE|Aaa/Caa|K148Q|486|CCDC7|protein_coding|CODING|ENST00000277657|exon_10_32745179_32745262 0/1:99:255,0,255 0/1:99:255,0,255 . . 10 32745248 rs56391924 A C NON_SYNONYMOUS_CODING CCDC7 MODERATE|MISSENSE|Aaa/Caa|K148Q|486|CCDC7|protein_coding|CODING|ENST00000362006|exon_10_32745179_32745262 0/1:99:255,0,255 0/1:99:255,0,255 . . 10 32856746 rs12268559 A C NON_SYNONYMOUS_CODING CCDC7 MODERATE|MISSENSE|aAa/aCa|K118T|159|CCDC7|protein_coding|CODING|ENST00000435402|exon_10_32856598_32856819 0/1:99:255,0,255 0/1:99:217,0,255 . . 10 32856746 rs12268559 A C NON_SYNONYMOUS_CODING CCDC7 MODERATE|MISSENSE|aAa/aCa|K449T|486|CCDC7|protein_coding|CODING|ENST00000277657|exon_10_32856598_32856819 0/1:99:255,0,255 0/1:99:217,0,255 . . 10 32856746 rs12268559 A C NON_SYNONYMOUS_CODING CCDC7 MODERATE|MISSENSE|aAa/aCa|K449T|486|CCDC7|protein_coding|CODING|ENST00000362006|exon_10_32856598_32856819 0/1:99:255,0,255 0/1:99:217,0,255 . . 10 37421199 rs34042320 C T NON_SYNONYMOUS_CODING ANKRD30A MODERATE|MISSENSE|aCg/aTg|T125M|1341|ANKRD30A|protein_coding|CODING|ENST00000361713|exon_10_37421168_37421274 . . 0/1:99:255,0,255 . 10 37421199 rs34042320 C T NON_SYNONYMOUS_CODING ANKRD30A MODERATE|MISSENSE|aCg/aTg|T125M|1460|ANKRD30A|protein_coding|CODING|ENST00000374660|exon_10_37421168_37421274 . . 0/1:99:255,0,255 . 10 37451586 rs12766884 G A NON_SYNONYMOUS_CODING ANKRD30A MODERATE|MISSENSE|gGg/gAg|G581E|1341|ANKRD30A|protein_coding|CODING|ENST00000361713|exon_10_37451577_37451605 . . 0/1:99:215,0,255 . 10 37451586 rs12766884 G A NON_SYNONYMOUS_CODING ANKRD30A MODERATE|MISSENSE|gGg/gAg|G581E|1460|ANKRD30A|protein_coding|CODING|ENST00000374660|exon_10_37451577_37451605 . . 0/1:99:215,0,255 . 10 37454048 rs41304589 C G NON_SYNONYMOUS_CODING ANKRD30A MODERATE|MISSENSE|Caa/Gaa|Q621E|1341|ANKRD30A|protein_coding|CODING|ENST00000361713|exon_10_37454022_37454083 . . . 0/1:99:255,0,255 10 37454048 rs41304589 C G NON_SYNONYMOUS_CODING ANKRD30A MODERATE|MISSENSE|Caa/Gaa|Q621E|1460|ANKRD30A|protein_coding|CODING|ENST00000374660|exon_10_37454022_37454083 . . . 0/1:99:255,0,255 10 37478443 rs199828555 A G NON_SYNONYMOUS_CODING ANKRD30A MODERATE|MISSENSE|Acg/Gcg|T768A|1341|ANKRD30A|protein_coding|CODING|ENST00000361713|exon_10_37478395_37478485 . 1/1:99:143,54,0 . . 10 37478443 rs199828555 A G NON_SYNONYMOUS_CODING ANKRD30A MODERATE|MISSENSE|Acg/Gcg|T887A|1460|ANKRD30A|protein_coding|CODING|ENST00000374660|exon_10_37478395_37478485 . 1/1:99:143,54,0 . . 10 38241067 rs1208606 A C NON_SYNONYMOUS_CODING ZNF25 MODERATE|MISSENSE|aaT/aaG|N417K|420|ZNF25|protein_coding|CODING|ENST00000374633|exon_10_38239495_38242123 . . . 0/1:99:223,0,251 10 38241067 rs1208606 A C NON_SYNONYMOUS_CODING ZNF25 MODERATE|MISSENSE|aaT/aaG|N453K|456|ZNF25|protein_coding|CODING|ENST00000302609|exon_10_38238500_38242123 . . . 0/1:99:223,0,251 10 38345238 rs148552733 T C NON_SYNONYMOUS_CODING ZNF33A MODERATE|MISSENSE|aTc/aCc|I728T|810|ZNF33A|protein_coding|CODING|ENST00000307441|exon_10_38343306_38345488 0/1:99:255,0,255 . . . 10 38345238 rs148552733 T C NON_SYNONYMOUS_CODING ZNF33A MODERATE|MISSENSE|aTc/aCc|I728T|810|ZNF33A|protein_coding|CODING|ENST00000458705|exon_10_38343306_38348981 0/1:99:255,0,255 . . . 10 38345238 rs148552733 T C NON_SYNONYMOUS_CODING ZNF33A MODERATE|MISSENSE|aTc/aCc|I729T|811|ZNF33A|protein_coding|CODING|ENST00000374618|exon_10_38343303_38348991 0/1:99:255,0,255 . . . 10 38345238 rs148552733 T C NON_SYNONYMOUS_CODING ZNF33A MODERATE|MISSENSE|aTc/aCc|I735T|817|ZNF33A|protein_coding|CODING|ENST00000432900|exon_10_38343306_38345789 0/1:99:255,0,255 . . . 10 38345465 rs10508862 G C NON_SYNONYMOUS_CODING ZNF33A MODERATE|MISSENSE|Gat/Cat|D804H|810|ZNF33A|protein_coding|CODING|ENST00000307441|exon_10_38343306_38345488 . . . 0/1:99:255,0,255 10 38345465 rs10508862 G C NON_SYNONYMOUS_CODING ZNF33A MODERATE|MISSENSE|Gat/Cat|D804H|810|ZNF33A|protein_coding|CODING|ENST00000458705|exon_10_38343306_38348981 . . . 0/1:99:255,0,255 10 38345465 rs10508862 G C NON_SYNONYMOUS_CODING ZNF33A MODERATE|MISSENSE|Gat/Cat|D805H|811|ZNF33A|protein_coding|CODING|ENST00000374618|exon_10_38343303_38348991 . . . 0/1:99:255,0,255 10 38345465 rs10508862 G C NON_SYNONYMOUS_CODING ZNF33A MODERATE|MISSENSE|Gat/Cat|D811H|817|ZNF33A|protein_coding|CODING|ENST00000432900|exon_10_38343306_38345789 . . . 0/1:99:255,0,255 10 38680963 rs201592932 G T NON_SYNONYMOUS_CODING SEPT7L MODERATE|MISSENSE|Cct/Act|P62T|92|SEPT7L|protein_coding|CODING|ENST00000239730|exon_10_38680911_38681045 0/1:99:111,0,251 0/1:99:211,0,255 . 0/1:99:153,0,235 10 38680963 rs201592932 G T NON_SYNONYMOUS_CODING SEPT7L MODERATE|MISSENSE|Cct/Act|P62T|92|SEPT7L|protein_coding|CODING|ENST00000328105|exon_10_38680911_38681045 0/1:99:111,0,251 0/1:99:211,0,255 . 0/1:99:153,0,235 10 43319197 rs12764004 G A NON_SYNONYMOUS_CODING BMS1 MODERATE|MISSENSE|Gtc/Atc|V1141I|1282|BMS1|protein_coding|CODING|ENST00000374518|exon_10_43319057_43319232 0/1:99:216,0,255 0/1:99:255,0,234 0/1:99:234,0,255 1/1:99:255,69,0 10 44112245 rs12354886 G A NON_SYNONYMOUS_CODING ZNF485 MODERATE|MISSENSE|Gct/Act|A161T|350|ZNF485|protein_coding|CODING|ENST00000374437|exon_10_44111739_44113035 . 0/1:99:255,0,255 0/1:99:255,0,214 . 10 44112245 rs12354886 G A NON_SYNONYMOUS_CODING ZNF485 MODERATE|MISSENSE|Gct/Act|A252T|441|ZNF485|protein_coding|CODING|ENST00000361807|exon_10_44111739_44113351 . 0/1:99:255,0,255 0/1:99:255,0,214 . 10 44112245 rs12354886 G A NON_SYNONYMOUS_CODING ZNF485 MODERATE|MISSENSE|Gct/Act|A252T|441|ZNF485|protein_coding|CODING|ENST00000374435|exon_10_44111739_44113351 . 0/1:99:255,0,255 0/1:99:255,0,214 . 10 45466959 rs144694585 A G NON_SYNONYMOUS_CODING RASSF4 MODERATE|MISSENSE|gAc/gGc|D25G|412|RASSF4|protein_coding|CODING|ENST00000374411|exon_10_45466886_45467296 . . 0/1:99:229,0,203 . 10 45496126 rs41301609 G A NON_SYNONYMOUS_CODING C10orf25 MODERATE|MISSENSE|cCa/cTa|P61L|122|C10orf25|protein_coding|CODING|ENST00000298298|exon_10_45495978_45496336 . . 0/1:99:242,0,247 . 10 45499009 rs3740093 A G NON_SYNONYMOUS_CODING ZNF22 MODERATE|MISSENSE|Agt/Ggt|S65G|224|ZNF22|protein_coding|CODING|ENST00000298299|exon_10_45498728_45500774 . . 0/1:99:255,0,255 . 10 46242094 rs200354637 A G NON_SYNONYMOUS_CODING FAM21C MODERATE|MISSENSE|cAg/cGg|Q156R|1253|FAM21C|protein_coding|CODING|ENST00000436993|exon_10_46242048_46242095 . 0/1:65:62,0,255 . . 10 46242094 rs200354637 A G NON_SYNONYMOUS_CODING FAM21C MODERATE|MISSENSE|cAg/cGg|Q188R|1262|FAM21C|protein_coding|CODING|ENST00000359860|exon_10_46242048_46242095 . 0/1:65:62,0,255 . . 10 46242094 rs200354637 A G NON_SYNONYMOUS_CODING FAM21C MODERATE|MISSENSE|cAg/cGg|Q189R|278|FAM21C|protein_coding|CODING|ENST00000420848|exon_10_46242048_46242095 . 0/1:65:62,0,255 . . 10 46242094 rs200354637 A G NON_SYNONYMOUS_CODING FAM21C MODERATE|MISSENSE|cAg/cGg|Q244R|1245|FAM21C|protein_coding|CODING|ENST00000537517|exon_10_46242048_46242095 . 0/1:65:62,0,255 . . 10 46242094 rs200354637 A G NON_SYNONYMOUS_CODING FAM21C MODERATE|MISSENSE|cAg/cGg|Q244R|1279|FAM21C|protein_coding|CODING|ENST00000540872|exon_10_46242048_46242095 . 0/1:65:62,0,255 . . 10 46242094 rs200354637 A G NON_SYNONYMOUS_CODING FAM21C MODERATE|MISSENSE|cAg/cGg|Q244R|1318|FAM21C|protein_coding|CODING|ENST00000336378|exon_10_46242048_46242095 . 0/1:65:62,0,255 . . 10 46242094 rs200354637 A G NON_SYNONYMOUS_CODING FAM21C MODERATE|MISSENSE|cAg/cGg|Q244R|1320|FAM21C|protein_coding|CODING|ENST00000374362|exon_10_46242048_46242095 . 0/1:65:62,0,255 . . 10 46242094 rs200354637 A G NON_SYNONYMOUS_CODING FAM21C MODERATE|MISSENSE|cAg/cGg|Q244R|1341|FAM21C|protein_coding|CODING|ENST00000399588|exon_10_46242048_46242095 . 0/1:65:62,0,255 . . 10 46250545 rs199533081 A T NON_SYNONYMOUS_CODING FAM21C MODERATE|MISSENSE|Agc/Tgc|S380C|1253|FAM21C|protein_coding|CODING|ENST00000436993|exon_10_46250384_46250561 . 0/1:83:80,0,180 . . 10 46250545 rs199533081 A T NON_SYNONYMOUS_CODING FAM21C MODERATE|MISSENSE|Agc/Tgc|S412C|1262|FAM21C|protein_coding|CODING|ENST00000359860|exon_10_46250384_46250563 . 0/1:83:80,0,180 . . 10 46250545 rs199533081 A T NON_SYNONYMOUS_CODING FAM21C MODERATE|MISSENSE|Agc/Tgc|S444C|1245|FAM21C|protein_coding|CODING|ENST00000537517|exon_10_46250384_46250563 . 0/1:83:80,0,180 . . 10 46250545 rs199533081 A T NON_SYNONYMOUS_CODING FAM21C MODERATE|MISSENSE|Agc/Tgc|S468C|1279|FAM21C|protein_coding|CODING|ENST00000540872|exon_10_46250384_46250563 . 0/1:83:80,0,180 . . 10 46250545 rs199533081 A T NON_SYNONYMOUS_CODING FAM21C MODERATE|MISSENSE|Agc/Tgc|S468C|1318|FAM21C|protein_coding|CODING|ENST00000336378|exon_10_46250384_46250563 . 0/1:83:80,0,180 . . 10 46250545 rs199533081 A T NON_SYNONYMOUS_CODING FAM21C MODERATE|MISSENSE|Agc/Tgc|S468C|1320|FAM21C|protein_coding|CODING|ENST00000374362|exon_10_46250384_46250563 . 0/1:83:80,0,180 . . 10 46250545 rs199533081 A T NON_SYNONYMOUS_CODING FAM21C MODERATE|MISSENSE|Agc/Tgc|S468C|1341|FAM21C|protein_coding|CODING|ENST00000399588|exon_10_46250384_46250561 . 0/1:83:80,0,180 . . 10 46250563 rs201816041 C G NON_SYNONYMOUS_CODING FAM21C MODERATE|MISSENSE|Cgc/Ggc|R418G|1262|FAM21C|protein_coding|CODING|ENST00000359860|exon_10_46250384_46250563 . 0/1:57:54,0,236 . . 10 46250563 rs201816041 C G NON_SYNONYMOUS_CODING FAM21C MODERATE|MISSENSE|Cgc/Ggc|R450G|1245|FAM21C|protein_coding|CODING|ENST00000537517|exon_10_46250384_46250563 . 0/1:57:54,0,236 . . 10 46250563 rs201816041 C G NON_SYNONYMOUS_CODING FAM21C MODERATE|MISSENSE|Cgc/Ggc|R474G|1279|FAM21C|protein_coding|CODING|ENST00000540872|exon_10_46250384_46250563 . 0/1:57:54,0,236 . . 10 46250563 rs201816041 C G NON_SYNONYMOUS_CODING FAM21C MODERATE|MISSENSE|Cgc/Ggc|R474G|1318|FAM21C|protein_coding|CODING|ENST00000336378|exon_10_46250384_46250563 . 0/1:57:54,0,236 . . 10 46250563 rs201816041 C G NON_SYNONYMOUS_CODING FAM21C MODERATE|MISSENSE|Cgc/Ggc|R474G|1320|FAM21C|protein_coding|CODING|ENST00000374362|exon_10_46250384_46250563 . 0/1:57:54,0,236 . . 10 47000217 rs72780221 G A NON_SYNONYMOUS_CODING GPRIN2 MODERATE|MISSENSE|cGc/cAc|R446H|458|GPRIN2|protein_coding|CODING|ENST00000374314|exon_10_46997926_47005643 . 0/1:99:127,0,255 0/1:99:167,0,255 . 10 47000217 rs72780221 G A NON_SYNONYMOUS_CODING GPRIN2 MODERATE|MISSENSE|cGc/cAc|R446H|458|GPRIN2|protein_coding|CODING|ENST00000374317|exon_10_46998875_47000573 . 0/1:99:127,0,255 0/1:99:167,0,255 . 10 47087609 rs79871698 G A NON_SYNONYMOUS_CODING PPYR1 MODERATE|MISSENSE|Gtg/Atg|V276M|375|PPYR1|protein_coding|CODING|ENST00000374312|exon_10_47086725_47088320 0/1:99:123,0,255 . . . 10 47087609 rs79871698 G A NON_SYNONYMOUS_CODING PPYR1 MODERATE|MISSENSE|Gtg/Atg|V276M|375|PPYR1|protein_coding|CODING|ENST00000395716|exon_10_47086725_47088320 0/1:99:123,0,255 . . . 10 47151385 rs61841514 G A NON_SYNONYMOUS_CODING AL391137.1 MODERATE|MISSENSE|gCg/gTg|A155V|161|AL391137.1|protein_coding|CODING|ENST00000319426|exon_10_47151363_47151848 0/1:76:73,0,121 . . . 10 47151386 rs183491254 C T NON_SYNONYMOUS_CODING AL391137.1 MODERATE|MISSENSE|Gcg/Acg|A155T|161|AL391137.1|protein_coding|CODING|ENST00000319426|exon_10_47151363_47151848 0/1:70:67,0,123 . . . 10 47151672 rs202065397 G T NON_SYNONYMOUS_CODING AL391137.1 MODERATE|MISSENSE|gaC/gaA|D59E|161|AL391137.1|protein_coding|CODING|ENST00000319426|exon_10_47151363_47151848 . 1/1:51:100,27,0 . . 10 47207813 rs202014361 T C NON_SYNONYMOUS_CODING AGAP10 MODERATE|MISSENSE|cAt/cGt|H132R|658|AGAP10|protein_coding|CODING|ENST00000452145|exon_10_47207812_47207846 . . . 0/1:99:105,0,147 10 47207813 rs202014361 T C NON_SYNONYMOUS_CODING AGAP10 MODERATE|MISSENSE|cAt/cGt|H157R|663|AGAP10|protein_coding|CODING|ENST00000355232|exon_10_47207812_47207846 . . . 0/1:99:105,0,147 10 47207813 rs202014361 T C NON_SYNONYMOUS_CODING AGAP10 MODERATE|MISSENSE|cAt/cGt|H228R|703|AGAP10|protein_coding|CODING|ENST00000413193|exon_10_47207812_47207846 . . . 0/1:99:105,0,147 10 48371310 rs199586477 G A NON_SYNONYMOUS_CODING ZNF488 MODERATE|MISSENSE|Gcc/Acc|A260T|340|ZNF488|protein_coding|CODING|ENST00000395702|exon_10_48370425_48373866 0/1:99:123,0,204 . . . 10 49658943 rs1867586 G T NON_SYNONYMOUS_CODING ARHGAP22 MODERATE|MISSENSE|aCg/aAg|T243K|531|ARHGAP22|protein_coding|CODING|ENST00000477708|exon_10_49658304_49659670 . 0/1:99:182,0,158 . . 10 49658943 rs1867586 G T NON_SYNONYMOUS_CODING ARHGAP22 MODERATE|MISSENSE|aCg/aAg|T251K|539|ARHGAP22|protein_coding|CODING|ENST00000374170|exon_10_49658304_49659183 . 0/1:99:182,0,158 . . 10 49658943 rs1867586 G T NON_SYNONYMOUS_CODING ARHGAP22 MODERATE|MISSENSE|aCg/aAg|T301K|589|ARHGAP22|protein_coding|CODING|ENST00000374172|exon_10_49658304_49659183 . 0/1:99:182,0,158 . . 10 49658943 rs1867586 G T NON_SYNONYMOUS_CODING ARHGAP22 MODERATE|MISSENSE|aCg/aAg|T320K|608|ARHGAP22|protein_coding|CODING|ENST00000417247|exon_10_49658304_49659183 . 0/1:99:182,0,158 . . 10 49658943 rs1867586 G T NON_SYNONYMOUS_CODING ARHGAP22 MODERATE|MISSENSE|aCg/aAg|T410K|698|ARHGAP22|protein_coding|CODING|ENST00000249601|exon_10_49658304_49659183 . 0/1:99:182,0,158 . . 10 49658943 rs1867586 G T NON_SYNONYMOUS_CODING ARHGAP22 MODERATE|MISSENSE|aCg/aAg|T416K|704|ARHGAP22|protein_coding|CODING|ENST00000435790|exon_10_49658304_49659183 . 0/1:99:182,0,158 . . 10 49658943 rs1867586 G T NON_SYNONYMOUS_CODING ARHGAP22 MODERATE|MISSENSE|aCg/aAg|T426K|714|ARHGAP22|protein_coding|CODING|ENST00000417912|exon_10_49658304_49659183 . 0/1:99:182,0,158 . . 10 49659006 rs80345791 G A NON_SYNONYMOUS_CODING ARHGAP22 MODERATE|MISSENSE|cCc/cTc|P222L|531|ARHGAP22|protein_coding|CODING|ENST00000477708|exon_10_49658304_49659670 0/1:99:194,0,137 . . . 10 49659006 rs80345791 G A NON_SYNONYMOUS_CODING ARHGAP22 MODERATE|MISSENSE|cCc/cTc|P230L|539|ARHGAP22|protein_coding|CODING|ENST00000374170|exon_10_49658304_49659183 0/1:99:194,0,137 . . . 10 49659006 rs80345791 G A NON_SYNONYMOUS_CODING ARHGAP22 MODERATE|MISSENSE|cCc/cTc|P280L|589|ARHGAP22|protein_coding|CODING|ENST00000374172|exon_10_49658304_49659183 0/1:99:194,0,137 . . . 10 49659006 rs80345791 G A NON_SYNONYMOUS_CODING ARHGAP22 MODERATE|MISSENSE|cCc/cTc|P299L|608|ARHGAP22|protein_coding|CODING|ENST00000417247|exon_10_49658304_49659183 0/1:99:194,0,137 . . . 10 49659006 rs80345791 G A NON_SYNONYMOUS_CODING ARHGAP22 MODERATE|MISSENSE|cCc/cTc|P389L|698|ARHGAP22|protein_coding|CODING|ENST00000249601|exon_10_49658304_49659183 0/1:99:194,0,137 . . . 10 49659006 rs80345791 G A NON_SYNONYMOUS_CODING ARHGAP22 MODERATE|MISSENSE|cCc/cTc|P395L|704|ARHGAP22|protein_coding|CODING|ENST00000435790|exon_10_49658304_49659183 0/1:99:194,0,137 . . . 10 49659006 rs80345791 G A NON_SYNONYMOUS_CODING ARHGAP22 MODERATE|MISSENSE|cCc/cTc|P405L|714|ARHGAP22|protein_coding|CODING|ENST00000417912|exon_10_49658304_49659183 0/1:99:194,0,137 . . . 10 49659351 rs1867587 C T NON_SYNONYMOUS_CODING ARHGAP22 MODERATE|MISSENSE|gGa/gAa|G107E|531|ARHGAP22|protein_coding|CODING|ENST00000477708|exon_10_49658304_49659670 . 1/1:99:255,72,0 . . 10 49933974 rs7072606 T C NON_SYNONYMOUS_CODING WDFY4 MODERATE|MISSENSE|Tca/Cca|S214P|1042|WDFY4|protein_coding|CODING|ENST00000413659|exon_10_49933926_49934115 . . 0/1:99:255,0,255 . 10 49933974 rs7072606 T C NON_SYNONYMOUS_CODING WDFY4 MODERATE|MISSENSE|Tca/Cca|S214P|3176|WDFY4|protein_coding|CODING|ENST00000426033|exon_10_49933926_49934115 . . 0/1:99:255,0,255 . 10 49933974 rs7072606 T C NON_SYNONYMOUS_CODING WDFY4 MODERATE|MISSENSE|Tca/Cca|S214P|3184|WDFY4|protein_coding|CODING|ENST00000325239|exon_10_49933926_49934115 . . 0/1:99:255,0,255 . 10 49933974 rs7072606 T C NON_SYNONYMOUS_CODING WDFY4 MODERATE|MISSENSE|Tca/Cca|S214P|654|WDFY4|protein_coding|CODING|ENST00000360890|exon_10_49933926_49934115 . . 0/1:99:255,0,255 . 10 49933974 rs7072606 T C NON_SYNONYMOUS_CODING WDFY4 MODERATE|MISSENSE|Tca/Cca|S223P|1052|WDFY4|protein_coding|CODING|ENST00000454161|exon_10_49933926_49934115 . . 0/1:99:255,0,255 . 10 50109895 rs35423873 A C NON_SYNONYMOUS_CODING WDFY4 MODERATE|MISSENSE|Acc/Ccc|T2525P|3176|WDFY4|protein_coding|CODING|ENST00000426033|exon_10_50109846_50109908 . . 0/1:99:106,0,221 . 10 50109895 rs35423873 A C NON_SYNONYMOUS_CODING WDFY4 MODERATE|MISSENSE|Acc/Ccc|T2525P|3184|WDFY4|protein_coding|CODING|ENST00000325239|exon_10_50109846_50109908 . . 0/1:99:106,0,221 . 10 50122109 rs17772611 C T NON_SYNONYMOUS_CODING LRRC18 MODERATE|MISSENSE|cGc/cAc|R31H|255|LRRC18|protein_coding|CODING|ENST00000298124|exon_10_50121294_50122280 . . 0/1:99:255,0,182 . 10 50122109 rs17772611 C T NON_SYNONYMOUS_CODING LRRC18 MODERATE|MISSENSE|cGc/cAc|R31H|261|LRRC18|protein_coding|CODING|ENST00000374160|exon_10_50121437_50122277 . . 0/1:99:255,0,182 . 10 50340070 rs200836232 T A NON_SYNONYMOUS_CODING FAM170B MODERATE|MISSENSE|cAg/cTg|Q147L|283|FAM170B|protein_coding|CODING|ENST00000311787|exon_10_50339199_50340397 . . . 0/1:99:255,0,246 10 50532588 rs10857469 C G NON_SYNONYMOUS_CODING C10orf71 MODERATE|MISSENSE|caC/caG|H666Q|1435|C10orf71|protein_coding|CODING|ENST00000374144|exon_10_50530447_50535532 . . 0/1:99:217,0,255 . 10 50532588 rs10857469 C G NON_SYNONYMOUS_CODING C10orf71 MODERATE|MISSENSE|caC/caG|H666Q|719|C10orf71|protein_coding|CODING|ENST00000323868|exon_10_50530447_50532664 . . 0/1:99:217,0,255 . 10 50532812 rs11101093 A G NON_SYNONYMOUS_CODING C10orf71 MODERATE|MISSENSE|gAt/gGt|D741G|1435|C10orf71|protein_coding|CODING|ENST00000374144|exon_10_50530447_50535532 . . 0/1:99:255,0,217 . 10 50533463 rs10857470 T A NON_SYNONYMOUS_CODING C10orf71 MODERATE|MISSENSE|tTc/tAc|F958Y|1435|C10orf71|protein_coding|CODING|ENST00000374144|exon_10_50530447_50535532 . . 0/1:99:173,0,211 . 10 50533841 rs11101094 G C NON_SYNONYMOUS_CODING C10orf71 MODERATE|MISSENSE|gGa/gCa|G1084A|1435|C10orf71|protein_coding|CODING|ENST00000374144|exon_10_50530447_50535532 . . 0/1:99:118,0,239 . 10 50534350 rs11101095 G A NON_SYNONYMOUS_CODING C10orf71 MODERATE|MISSENSE|Gtc/Atc|V1254I|1435|C10orf71|protein_coding|CODING|ENST00000374144|exon_10_50530447_50535532 . . 0/1:99:169,0,243 . 10 50534993 . CACACACACACA CACACACACACAAACACACACACA CODON_INSERTION C10orf71 MODERATE||-/AACACACACACA|-702NTHT|719|C10orf71|protein_coding|CODING|ENST00000323868|exon_10_50534976_50535537 . . . 0/1:66:63,0,165 10 50680422 rs145720191 C T NON_SYNONYMOUS_CODING ERCC6 MODERATE|MISSENSE|cGa/cAa|R345Q|863|ERCC6|protein_coding|CODING|ENST00000542458|exon_10_50680422_50680516 . . 0/1:99:255,0,255 . 10 50680422 rs145720191 C T NON_SYNONYMOUS_CODING ERCC6 MODERATE|MISSENSE|cGa/cAa|R352Q|870|ERCC6|protein_coding|CODING|ENST00000374129|exon_10_50680422_50680516 . . 0/1:99:255,0,255 . 10 50680422 rs145720191 C T NON_SYNONYMOUS_CODING ERCC6 MODERATE|MISSENSE|cGa/cAa|R975Q|1493|ERCC6|protein_coding|CODING|ENST00000355832|exon_10_50680422_50680516 . . 0/1:99:255,0,255 . 10 51225507 rs77529392 C T NON_SYNONYMOUS_CODING AGAP8 MODERATE|MISSENSE|cGt/cAt|R268H|439|AGAP8|protein_coding|CODING|ENST00000311652|exon_10_51224677_51226465 . . . 0/1:53:66,0,50 10 51225507 rs77529392 C T NON_SYNONYMOUS_CODING AGAP8 MODERATE|MISSENSE|cGt/cAt|R492H|663|AGAP8|protein_coding|CODING|ENST00000425119|exon_10_51224688_51226465 . . . 0/1:53:66,0,50 10 51769579 rs201531094 G A NON_SYNONYMOUS_CODING AGAP6 MODERATE|MISSENSE|cGg/cAg|R542Q|663|AGAP6|protein_coding|CODING|ENST00000412531|exon_10_51768471_51770257 . 0/1:29:53,0,26 . 0/1:25:50,0,22 10 51769579 rs201531094 G A NON_SYNONYMOUS_CODING AGAP6 MODERATE|MISSENSE|cGg/cAg|R565Q|686|AGAP6|protein_coding|CODING|ENST00000374056|exon_10_51768471_51770259 . 0/1:29:53,0,26 . 0/1:25:50,0,22 10 52003029 . T C NON_SYNONYMOUS_CODING ASAH2 MODERATE|MISSENSE|gAt/gGt|D129G|726|ASAH2|protein_coding|CODING|ENST00000329428|exon_10_52002962_52003111 . . 0/1:99:255,0,255 . 10 52003029 . T C NON_SYNONYMOUS_CODING ASAH2 MODERATE|MISSENSE|gAt/gGt|D148G|745|ASAH2|protein_coding|CODING|ENST00000447815|exon_10_52002962_52003111 . . 0/1:99:255,0,255 . 10 52003029 . T C NON_SYNONYMOUS_CODING ASAH2 MODERATE|MISSENSE|gAt/gGt|D148G|780|ASAH2|protein_coding|CODING|ENST00000395526|exon_10_52002962_52003111 . . 0/1:99:255,0,255 . 10 53458664 rs144891921 C T NON_SYNONYMOUS_CODING CSTF2T MODERATE|MISSENSE|Ggc/Agc|G216S|616|CSTF2T|protein_coding|CODING|ENST00000331173|exon_10_53455247_53459355 0/1:99:255,0,241 . . . 10 55566406 rs17704703 T G NON_SYNONYMOUS_CODING PCDH15 MODERATE|MISSENSE|cAg/cCg|Q1656P|1677|PCDH15|protein_coding|CODING|ENST00000455746|exon_10_55562531_55566890 0/1:99:255,0,252 1/1:99:255,120,0 1/1:99:255,108,0 . 10 55566406 rs17704703 T G NON_SYNONYMOUS_CODING PCDH15 MODERATE|MISSENSE|cAg/cCg|Q1660P|1681|PCDH15|protein_coding|CODING|ENST00000414778|exon_10_55562531_55566890 0/1:99:255,0,252 1/1:99:255,120,0 1/1:99:255,108,0 . 10 55566406 rs17704703 T G NON_SYNONYMOUS_CODING PCDH15 MODERATE|MISSENSE|cAg/cCg|Q1663P|1684|PCDH15|protein_coding|CODING|ENST00000373965|exon_10_55562531_55566890 0/1:99:255,0,252 1/1:99:255,120,0 1/1:99:255,108,0 . 10 55570347 rs41274622 C T NON_SYNONYMOUS_CODING PCDH15 MODERATE|MISSENSE|Gtg/Atg|V1119M|1150|PCDH15|protein_coding|CODING|ENST00000409834|exon_10_55570316_55570424 . . . 0/1:99:255,0,255 10 55570347 rs41274622 C T NON_SYNONYMOUS_CODING PCDH15 MODERATE|MISSENSE|Gtg/Atg|V1508M|1539|PCDH15|protein_coding|CODING|ENST00000395438|exon_10_55570316_55570424 . . . 0/1:99:255,0,255 10 55570347 rs41274622 C T NON_SYNONYMOUS_CODING PCDH15 MODERATE|MISSENSE|gGt/gAt|G1484D|1677|PCDH15|protein_coding|CODING|ENST00000455746|exon_10_55570316_55570424 . . . 0/1:99:255,0,255 10 55570347 rs41274622 C T NON_SYNONYMOUS_CODING PCDH15 MODERATE|MISSENSE|gGt/gAt|G1488D|1681|PCDH15|protein_coding|CODING|ENST00000414778|exon_10_55570316_55570436 . . . 0/1:99:255,0,255 10 55570347 rs41274622 C T NON_SYNONYMOUS_CODING PCDH15 MODERATE|MISSENSE|gGt/gAt|G1491D|1684|PCDH15|protein_coding|CODING|ENST00000373965|exon_10_55570316_55570424 . . . 0/1:99:255,0,255 10 55570347 rs41274622 C T NON_SYNONYMOUS_CODING PCDH15 MODERATE|MISSENSE|gGt/gAt|G1491D|1785|PCDH15|protein_coding|CODING|ENST00000395445|exon_10_55570316_55570424 . . . 0/1:99:255,0,255 10 56423968 rs11004439 A C NON_SYNONYMOUS_CODING PCDH15 MODERATE|MISSENSE|Tct/Gct|S19A|1539|PCDH15|protein_coding|CODING|ENST00000395438|exon_10_56423932_56424050 0/1:99:203,0,255 0/1:99:255,0,255 0/1:99:206,0,255 0/1:99:254,0,223 10 56423968 rs11004439 A C NON_SYNONYMOUS_CODING PCDH15 MODERATE|MISSENSE|Tct/Gct|S19A|1677|PCDH15|protein_coding|CODING|ENST00000455746|exon_10_56423932_56424050 0/1:99:203,0,255 0/1:99:255,0,255 0/1:99:206,0,255 0/1:99:254,0,223 10 56423968 rs11004439 A C NON_SYNONYMOUS_CODING PCDH15 MODERATE|MISSENSE|Tct/Gct|S19A|1681|PCDH15|protein_coding|CODING|ENST00000414778|exon_10_56423932_56424050 0/1:99:203,0,255 0/1:99:255,0,255 0/1:99:206,0,255 0/1:99:254,0,223 10 56423968 rs11004439 A C NON_SYNONYMOUS_CODING PCDH15 MODERATE|MISSENSE|Tct/Gct|S19A|1684|PCDH15|protein_coding|CODING|ENST00000373965|exon_10_56423932_56424050 0/1:99:203,0,255 0/1:99:255,0,255 0/1:99:206,0,255 0/1:99:254,0,223 10 56423968 rs11004439 A C NON_SYNONYMOUS_CODING PCDH15 MODERATE|MISSENSE|Tct/Gct|S19A|1785|PCDH15|protein_coding|CODING|ENST00000395445|exon_10_56423932_56424050 0/1:99:203,0,255 0/1:99:255,0,255 0/1:99:206,0,255 0/1:99:254,0,223 10 56423968 rs11004439 A C NON_SYNONYMOUS_CODING PCDH15 MODERATE|MISSENSE|Tct/Gct|S19A|1886|PCDH15|protein_coding|CODING|ENST00000437009|exon_10_56423932_56424050 0/1:99:203,0,255 0/1:99:255,0,255 0/1:99:206,0,255 0/1:99:254,0,223 10 56423968 rs11004439 A C NON_SYNONYMOUS_CODING PCDH15 MODERATE|MISSENSE|Tct/Gct|S19A|1915|PCDH15|protein_coding|CODING|ENST00000395432|exon_10_56423932_56424050 0/1:99:203,0,255 0/1:99:255,0,255 0/1:99:206,0,255 0/1:99:254,0,223 10 56423968 rs11004439 A C NON_SYNONYMOUS_CODING PCDH15 MODERATE|MISSENSE|Tct/Gct|S19A|1932|PCDH15|protein_coding|CODING|ENST00000395433|exon_10_56423932_56424050 0/1:99:203,0,255 0/1:99:255,0,255 0/1:99:206,0,255 0/1:99:254,0,223 10 56423968 rs11004439 A C NON_SYNONYMOUS_CODING PCDH15 MODERATE|MISSENSE|Tct/Gct|S19A|1952|PCDH15|protein_coding|CODING|ENST00000395430|exon_10_56423932_56424050 0/1:99:203,0,255 0/1:99:255,0,255 0/1:99:206,0,255 0/1:99:254,0,223 10 56423968 rs11004439 A C NON_SYNONYMOUS_CODING PCDH15 MODERATE|MISSENSE|Tct/Gct|S19A|1955|PCDH15|protein_coding|CODING|ENST00000320301|exon_10_56423932_56424050 0/1:99:203,0,255 0/1:99:255,0,255 0/1:99:206,0,255 0/1:99:254,0,223 10 56423968 rs11004439 A C NON_SYNONYMOUS_CODING PCDH15 MODERATE|MISSENSE|Tct/Gct|S19A|1957|PCDH15|protein_coding|CODING|ENST00000361849|exon_10_56423932_56424050 0/1:99:203,0,255 0/1:99:255,0,255 0/1:99:206,0,255 0/1:99:254,0,223 10 56423968 rs11004439 A C NON_SYNONYMOUS_CODING PCDH15 MODERATE|MISSENSE|Tct/Gct|S19A|1962|PCDH15|protein_coding|CODING|ENST00000417177|exon_10_56423932_56424050 0/1:99:203,0,255 0/1:99:255,0,255 0/1:99:206,0,255 0/1:99:254,0,223 10 56423968 rs11004439 A C NON_SYNONYMOUS_CODING PCDH15 MODERATE|MISSENSE|Tct/Gct|S19A|650|PCDH15|protein_coding|CODING|ENST00000395442|exon_10_56423932_56424050 0/1:99:203,0,255 0/1:99:255,0,255 0/1:99:206,0,255 0/1:99:254,0,223 10 56423968 rs11004439 A C NON_SYNONYMOUS_CODING PCDH15 MODERATE|MISSENSE|Tct/Gct|S19A|719|PCDH15|protein_coding|CODING|ENST00000395440|exon_10_56423932_56424050 0/1:99:203,0,255 0/1:99:255,0,255 0/1:99:206,0,255 0/1:99:254,0,223 10 56423968 rs11004439 A C NON_SYNONYMOUS_CODING PCDH15 MODERATE|MISSENSE|Tct/Gct|S19A|809|PCDH15|protein_coding|CODING|ENST00000373957|exon_10_56423932_56424050 0/1:99:203,0,255 0/1:99:255,0,255 0/1:99:206,0,255 0/1:99:254,0,223 10 56423968 rs11004439 A C NON_SYNONYMOUS_CODING PCDH15 MODERATE|MISSENSE|Tct/Gct|S19A|91|PCDH15|protein_coding|CODING|ENST00000458638|exon_10_56423932_56424050 0/1:99:203,0,255 0/1:99:255,0,255 0/1:99:206,0,255 0/1:99:254,0,223 10 56423968 rs11004439 A C NON_SYNONYMOUS_CODING PCDH15 MODERATE|MISSENSE|Tct/Gct|S19A|961|PCDH15|protein_coding|CODING|ENST00000373955|exon_10_56423932_56424050 0/1:99:203,0,255 0/1:99:255,0,255 0/1:99:206,0,255 0/1:99:254,0,223 10 56423968 rs11004439 A C NON_SYNONYMOUS_CODING PCDH15 MODERATE|MISSENSE|Tct/Gct|S19A|981|PCDH15|protein_coding|CODING|ENST00000395446|exon_10_56423932_56424050 0/1:99:203,0,255 0/1:99:255,0,255 0/1:99:206,0,255 0/1:99:254,0,223 10 60145342 rs1937 G C NON_SYNONYMOUS_CODING TFAM MODERATE|MISSENSE|aGt/aCt|S12T|214|TFAM|protein_coding|CODING|ENST00000373895|exon_10_60145194_60145408 0/1:99:181,0,255 . 0/1:99:215,0,212 . 10 60145342 rs1937 G C NON_SYNONYMOUS_CODING TFAM MODERATE|MISSENSE|aGt/aCt|S12T|246|TFAM|protein_coding|CODING|ENST00000487519|exon_10_60144782_60145408 0/1:99:181,0,255 . 0/1:99:215,0,212 . 10 64937501 rs34491125 G C NON_SYNONYMOUS_CODING JMJD1C MODERATE|MISSENSE|gaC/gaG|D2163E|2303|JMJD1C|protein_coding|CODING|ENST00000402544|exon_10_64937477_64937616 . . . 0/1:99:255,0,255 10 64937501 rs34491125 G C NON_SYNONYMOUS_CODING JMJD1C MODERATE|MISSENSE|gaC/gaG|D2218E|2358|JMJD1C|protein_coding|CODING|ENST00000542921|exon_10_64937477_64937616 . . . 0/1:99:255,0,255 10 64937501 rs34491125 G C NON_SYNONYMOUS_CODING JMJD1C MODERATE|MISSENSE|gaC/gaG|D2400E|2540|JMJD1C|protein_coding|CODING|ENST00000399262|exon_10_64937477_64937616 . . . 0/1:99:255,0,255 10 64968251 rs149833441 T C NON_SYNONYMOUS_CODING JMJD1C MODERATE|MISSENSE|Aaa/Gaa|K1060E|2540|JMJD1C|protein_coding|CODING|ENST00000399262|exon_10_64966355_64968561 0/1:99:255,0,255 . . . 10 64968251 rs149833441 T C NON_SYNONYMOUS_CODING JMJD1C MODERATE|MISSENSE|Aaa/Gaa|K841E|1480|JMJD1C|protein_coding|CODING|ENST00000399251|exon_10_64966355_64968561 0/1:99:255,0,255 . . . 10 64968251 rs149833441 T C NON_SYNONYMOUS_CODING JMJD1C MODERATE|MISSENSE|Aaa/Gaa|K841E|2303|JMJD1C|protein_coding|CODING|ENST00000402544|exon_10_64966355_64968561 0/1:99:255,0,255 . . . 10 64968251 rs149833441 T C NON_SYNONYMOUS_CODING JMJD1C MODERATE|MISSENSE|Aaa/Gaa|K878E|2358|JMJD1C|protein_coding|CODING|ENST00000542921|exon_10_64966355_64968561 0/1:99:255,0,255 . . . 10 64974224 rs201464655 T A NON_SYNONYMOUS_CODING JMJD1C MODERATE|MISSENSE|gAt/gTt|D349V|1480|JMJD1C|protein_coding|CODING|ENST00000399251|exon_10_64973233_64974911 . 0/1:99:255,0,255 . . 10 64974224 rs201464655 T A NON_SYNONYMOUS_CODING JMJD1C MODERATE|MISSENSE|gAt/gTt|D349V|2303|JMJD1C|protein_coding|CODING|ENST00000402544|exon_10_64973233_64974911 . 0/1:99:255,0,255 . . 10 64974224 rs201464655 T A NON_SYNONYMOUS_CODING JMJD1C MODERATE|MISSENSE|gAt/gTt|D386V|2358|JMJD1C|protein_coding|CODING|ENST00000542921|exon_10_64973233_64974911 . 0/1:99:255,0,255 . . 10 64974224 rs201464655 T A NON_SYNONYMOUS_CODING JMJD1C MODERATE|MISSENSE|gAt/gTt|D568V|2540|JMJD1C|protein_coding|CODING|ENST00000399262|exon_10_64973233_64974911 . 0/1:99:255,0,255 . . 10 68139039 rs41274090 G A NON_SYNONYMOUS_CODING CTNNA3 MODERATE|MISSENSE|Cgt/Tgt|R535C|895|CTNNA3|protein_coding|CODING|ENST00000373744|exon_10_68138910_68139110 . . 0/1:99:255,0,255 . 10 68139039 rs41274090 G A NON_SYNONYMOUS_CODING CTNNA3 MODERATE|MISSENSE|Cgt/Tgt|R535C|895|CTNNA3|protein_coding|CODING|ENST00000433211|exon_10_68138910_68139110 . . 0/1:99:255,0,255 . 10 69830266 rs1981180 G A NON_SYNONYMOUS_CODING HERC4 MODERATE|MISSENSE|cCt/cTt|P106L|110|HERC4|protein_coding|CODING|ENST00000492996|exon_10_69828762_69830356 . . 0/1:99:170,0,211 0/1:99:195,0,255 10 69934259 rs62620248 G A NON_SYNONYMOUS_CODING MYPN MODERATE|MISSENSE|Gga/Aga|G529R|1045|MYPN|protein_coding|CODING|ENST00000354393|exon_10_69933823_69934413 . 0/1:99:255,0,142 . . 10 69934259 rs62620248 G A NON_SYNONYMOUS_CODING MYPN MODERATE|MISSENSE|Gga/Aga|G529R|1045|MYPN|protein_coding|CODING|ENST00000542332|exon_10_69933823_69934413 . 0/1:99:255,0,142 . . 10 69934259 rs62620248 G A NON_SYNONYMOUS_CODING MYPN MODERATE|MISSENSE|Gga/Aga|G804R|1320|MYPN|protein_coding|CODING|ENST00000358913|exon_10_69933823_69934413 . 0/1:99:255,0,142 . . 10 69934259 rs62620248 G A NON_SYNONYMOUS_CODING MYPN MODERATE|MISSENSE|Gga/Aga|G804R|1320|MYPN|protein_coding|CODING|ENST00000540630|exon_10_69933823_69934413 . 0/1:99:255,0,142 . . 10 70760271 rs62625033 T C NON_SYNONYMOUS_CODING KIAA1279 MODERATE|MISSENSE|aTg/aCg|M173T|621|KIAA1279|protein_coding|CODING|ENST00000361983|exon_10_70760180_70760278 . . 0/1:99:255,0,240 . 10 71164655 rs2229170 C T NON_SYNONYMOUS_CODING TACR2 MODERATE|MISSENSE|cGt/cAt|R163H|186|TACR2|protein_coding|CODING|ENST00000373307|exon_10_71163659_71164840 . 0/1:99:132,0,255 . 0/1:99:195,0,213 10 71164655 rs2229170 C T NON_SYNONYMOUS_CODING TACR2 MODERATE|MISSENSE|cGt/cAt|R375H|398|TACR2|protein_coding|CODING|ENST00000373306|exon_10_71164240_71164840 . 0/1:99:132,0,255 . 0/1:99:195,0,213 10 71176012 rs5030920 A G NON_SYNONYMOUS_CODING TACR2 MODERATE|MISSENSE|aTc/aCc|I23T|398|TACR2|protein_coding|CODING|ENST00000373306|exon_10_71175688_71176623 0/1:99:184,0,255 0/1:99:255,0,184 . . 10 71332747 . T A NON_SYNONYMOUS_CODING NEUROG3 MODERATE|MISSENSE|gAg/gTg|E18V|214|NEUROG3|protein_coding|CODING|ENST00000242462|exon_10_71331454_71332800 . . 0/1:99:131,0,255 . 10 72293732 rs61738654 G A NON_SYNONYMOUS_CODING KIAA1274 MODERATE|MISSENSE|Gtc/Atc|V309I|832|KIAA1274|protein_coding|CODING|ENST00000373214|exon_10_72293678_72293829 . . 0/1:99:255,0,232 . 10 72293732 rs61738654 G A NON_SYNONYMOUS_CODING KIAA1274 MODERATE|MISSENSE|Gtc/Atc|V309I|856|KIAA1274|protein_coding|CODING|ENST00000263563|exon_10_72293678_72293829 . . 0/1:99:255,0,232 . 10 72326400 rs10999406 G A NON_SYNONYMOUS_CODING KIAA1274 MODERATE|MISSENSE|Ggg/Agg|G804R|832|KIAA1274|protein_coding|CODING|ENST00000373214|exon_10_72326337_72328205 0/1:99:215,0,243 0/1:99:255,0,101 . . 10 72326400 rs10999406 G A NON_SYNONYMOUS_CODING KIAA1274 MODERATE|MISSENSE|Ggg/Agg|G828R|856|KIAA1274|protein_coding|CODING|ENST00000263563|exon_10_72326337_72328205 0/1:99:215,0,243 0/1:99:255,0,101 . . 10 72520254 rs61736607 C T NON_SYNONYMOUS_CODING ADAMTS14 MODERATE|MISSENSE|cCt/cTt|P1106L|1223|ADAMTS14|protein_coding|CODING|ENST00000373207|exon_10_72520116_72522197 0/1:99:217,0,204 . . . 10 72520254 rs61736607 C T NON_SYNONYMOUS_CODING ADAMTS14 MODERATE|MISSENSE|cCt/cTt|P1109L|1226|ADAMTS14|protein_coding|CODING|ENST00000373208|exon_10_72520116_72522197 0/1:99:217,0,204 . . . 10 73121779 rs79737301 T C NON_SYNONYMOUS_CODING SLC29A3 MODERATE|MISSENSE|cTc/cCc|L281P|475|SLC29A3|protein_coding|CODING|ENST00000373189|exon_10_73121711_73123142 0/1:99:200,0,255 . . . 10 73199595 rs7902757 C T NON_SYNONYMOUS_CODING CDH23 MODERATE|MISSENSE|Cgc/Tgc|R3C|1064|CDH23|protein_coding|CODING|ENST00000299366|exon_10_73199584_73199655 . 0/1:99:202,0,255 . . 10 73199595 rs7902757 C T NON_SYNONYMOUS_CODING CDH23 MODERATE|MISSENSE|Cgc/Tgc|R3C|1212|CDH23|protein_coding|CODING|ENST00000398828|exon_10_73199584_73199655 . 0/1:99:202,0,255 . . 10 73199595 rs7902757 C T NON_SYNONYMOUS_CODING CDH23 MODERATE|MISSENSE|Cgc/Tgc|R3C|3319|CDH23|protein_coding|CODING|ENST00000398855|exon_10_73199584_73199655 . 0/1:99:202,0,255 . . 10 73199595 rs7902757 C T NON_SYNONYMOUS_CODING CDH23 MODERATE|MISSENSE|Cgc/Tgc|R3C|3357|CDH23|protein_coding|CODING|ENST00000224721|exon_10_73199584_73199655 . 0/1:99:202,0,255 . . 10 73199595 rs7902757 C T NON_SYNONYMOUS_CODING CDH23 MODERATE|MISSENSE|Cgc/Tgc|R3C|3359|CDH23|protein_coding|CODING|ENST00000398860|exon_10_73199584_73199655 . 0/1:99:202,0,255 . . 10 73199595 rs7902757 C T NON_SYNONYMOUS_CODING CDH23 MODERATE|MISSENSE|Cgc/Tgc|R3C|530|CDH23|protein_coding|CODING|ENST00000398809|exon_10_73199584_73199655 . 0/1:99:202,0,255 . . 10 73199595 rs7902757 C T NON_SYNONYMOUS_CODING CDH23 MODERATE|MISSENSE|Cgc/Tgc|R3C|530|CDH23|protein_coding|CODING|ENST00000398842|exon_10_73199584_73199655 . 0/1:99:202,0,255 . . 10 73490310 rs41281316 G A NON_SYNONYMOUS_CODING CDH23 MODERATE|MISSENSE|Gca/Aca|A1222T|3319|CDH23|protein_coding|CODING|ENST00000398855|exon_10_73490226_73490361 . . . 0/1:99:134,0,189 10 73490310 rs41281316 G A NON_SYNONYMOUS_CODING CDH23 MODERATE|MISSENSE|Gca/Aca|A1225T|3357|CDH23|protein_coding|CODING|ENST00000224721|exon_10_73490226_73490361 . . . 0/1:99:134,0,189 10 73490310 rs41281316 G A NON_SYNONYMOUS_CODING CDH23 MODERATE|MISSENSE|Gca/Aca|A1227T|3359|CDH23|protein_coding|CODING|ENST00000398860|exon_10_73490226_73490361 . . . 0/1:99:134,0,189 10 73490310 rs41281316 G A NON_SYNONYMOUS_CODING CDH23 MODERATE|MISSENSE|Gca/Aca|A43T|455|CDH23|protein_coding|CODING|ENST00000398792|exon_10_73490226_73490361 . . . 0/1:99:134,0,189 10 73544086 rs3802711 G A NON_SYNONYMOUS_CODING CDH23 MODERATE|MISSENSE|cGg/cAg|R1804Q|3319|CDH23|protein_coding|CODING|ENST00000398855|exon_10_73544044_73544177 0/1:99:250,0,255 . 0/1:99:251,0,230 0/1:99:219,0,102 10 73544086 rs3802711 G A NON_SYNONYMOUS_CODING CDH23 MODERATE|MISSENSE|cGg/cAg|R1807Q|3357|CDH23|protein_coding|CODING|ENST00000224721|exon_10_73544044_73544177 0/1:99:250,0,255 . 0/1:99:251,0,230 0/1:99:219,0,102 10 73544086 rs3802711 G A NON_SYNONYMOUS_CODING CDH23 MODERATE|MISSENSE|cGg/cAg|R1809Q|3359|CDH23|protein_coding|CODING|ENST00000398860|exon_10_73544044_73544177 0/1:99:250,0,255 . 0/1:99:251,0,230 0/1:99:219,0,102 10 73972957 rs11558719 C T NON_SYNONYMOUS_CODING ASCC1 MODERATE|MISSENSE|Gac/Aac|D34N|102|ASCC1|protein_coding|CODING|ENST00000526751|exon_10_73972945_73973089 0/1:99:190,0,255 . . . 10 73972957 rs11558719 C T NON_SYNONYMOUS_CODING ASCC1 MODERATE|MISSENSE|Gac/Aac|D34N|122|ASCC1|protein_coding|CODING|ENST00000524829|exon_10_73972945_73973089 0/1:99:190,0,255 . . . 10 73972957 rs11558719 C T NON_SYNONYMOUS_CODING ASCC1 MODERATE|MISSENSE|Gac/Aac|D34N|138|ASCC1|protein_coding|CODING|ENST00000531048|exon_10_73972945_73973089 0/1:99:190,0,255 . . . 10 73972957 rs11558719 C T NON_SYNONYMOUS_CODING ASCC1 MODERATE|MISSENSE|Gac/Aac|D34N|151|ASCC1|protein_coding|CODING|ENST00000527593|exon_10_73972945_73973109 0/1:99:190,0,255 . . . 10 73972957 rs11558719 C T NON_SYNONYMOUS_CODING ASCC1 MODERATE|MISSENSE|Gac/Aac|D34N|357|ASCC1|protein_coding|CODING|ENST00000317126|exon_10_73972945_73973089 0/1:99:190,0,255 . . . 10 73972957 rs11558719 C T NON_SYNONYMOUS_CODING ASCC1 MODERATE|MISSENSE|Gac/Aac|D34N|357|ASCC1|protein_coding|CODING|ENST00000317168|exon_10_73972945_73973089 0/1:99:190,0,255 . . . 10 73972957 rs11558719 C T NON_SYNONYMOUS_CODING ASCC1 MODERATE|MISSENSE|Gac/Aac|D34N|357|ASCC1|protein_coding|CODING|ENST00000373101|exon_10_73972945_73973089 0/1:99:190,0,255 . . . 10 73972957 rs11558719 C T NON_SYNONYMOUS_CODING ASCC1 MODERATE|MISSENSE|Gac/Aac|D34N|357|ASCC1|protein_coding|CODING|ENST00000394919|exon_10_73972945_73973089 0/1:99:190,0,255 . . . 10 73972957 rs11558719 C T NON_SYNONYMOUS_CODING ASCC1 MODERATE|MISSENSE|Gac/Aac|D34N|400|ASCC1|protein_coding|CODING|ENST00000342444|exon_10_73972945_73973089 0/1:99:190,0,255 . . . 10 73972957 rs11558719 C T NON_SYNONYMOUS_CODING ASCC1 MODERATE|MISSENSE|Gac/Aac|D34N|400|ASCC1|protein_coding|CODING|ENST00000394915|exon_10_73972945_73973089 0/1:99:190,0,255 . . . 10 73972957 rs11558719 C T NON_SYNONYMOUS_CODING ASCC1 MODERATE|MISSENSE|Gac/Aac|D34N|55|ASCC1|protein_coding|CODING|ENST00000533958|exon_10_73972945_73973089 0/1:99:190,0,255 . . . 10 73972957 rs11558719 C T NON_SYNONYMOUS_CODING ASCC1 MODERATE|MISSENSE|Gac/Aac|D56N|379|ASCC1|protein_coding|CODING|ENST00000545550|exon_10_73972945_73973089 0/1:99:190,0,255 . . . 10 74914108 . G A NON_SYNONYMOUS_CODING ECD MODERATE|MISSENSE|gCa/gTa|A156V|211|ECD|protein_coding|CODING|ENST00000453402|exon_10_74914014_74914206 0/1:99:240,0,149 . . . 10 74914108 . G A NON_SYNONYMOUS_CODING ECD MODERATE|MISSENSE|gCa/gTa|A204V|216|ECD|protein_coding|CODING|ENST00000413026|exon_10_74914068_74914206 0/1:99:240,0,149 . . . 10 74914108 . G A NON_SYNONYMOUS_CODING ECD MODERATE|MISSENSE|gCa/gTa|A230V|601|ECD|protein_coding|CODING|ENST00000454759|exon_10_74914014_74914206 0/1:99:240,0,149 . . . 10 74914108 . G A NON_SYNONYMOUS_CODING ECD MODERATE|MISSENSE|gCa/gTa|A230V|644|ECD|protein_coding|CODING|ENST00000372979|exon_10_74914014_74914206 0/1:99:240,0,149 . . . 10 74914108 . G A NON_SYNONYMOUS_CODING ECD MODERATE|MISSENSE|gCa/gTa|A230V|677|ECD|protein_coding|CODING|ENST00000430082|exon_10_74914014_74914206 0/1:99:240,0,149 . . . 10 75523634 rs35528438 A G NON_SYNONYMOUS_CODING SEC24C MODERATE|MISSENSE|Atc/Gtc|I255V|975|SEC24C|protein_coding|CODING|ENST00000411652|exon_10_75523614_75523741 0/1:99:226,0,168 . 0/1:99:245,0,240 . 10 75523634 rs35528438 A G NON_SYNONYMOUS_CODING SEC24C MODERATE|MISSENSE|Atc/Gtc|I374V|1094|SEC24C|protein_coding|CODING|ENST00000339365|exon_10_75523614_75523741 0/1:99:226,0,168 . 0/1:99:245,0,240 . 10 75523634 rs35528438 A G NON_SYNONYMOUS_CODING SEC24C MODERATE|MISSENSE|Atc/Gtc|I374V|1094|SEC24C|protein_coding|CODING|ENST00000345254|exon_10_75523614_75523741 0/1:99:226,0,168 . 0/1:99:245,0,240 . 10 75567371 rs201252251 C T NON_SYNONYMOUS_CODING NDST2 MODERATE|MISSENSE|cGg/cAg|R136Q|760|NDST2|protein_coding|CODING|ENST00000299641|exon_10_75567142_75567909 . 0/1:5:216,0,2 . . 10 75567371 rs201252251 C T NON_SYNONYMOUS_CODING NDST2 MODERATE|MISSENSE|cGg/cAg|R259Q|883|NDST2|protein_coding|CODING|ENST00000309979|exon_10_75567142_75568487 . 0/1:5:216,0,2 . . 10 76867753 rs41280430 C G NON_SYNONYMOUS_CODING DUSP13 MODERATE|MISSENSE|Ggg/Cgg|G122R|188|DUSP13|protein_coding|CODING|ENST00000372702|exon_10_76867750_76867967 . . . 0/1:99:118,0,255 10 77161100 . GCCGCCTCCGCCTCCGCC GCCGCCTCCGCCTCCGCCTCCGCCTCCGCC CODON_CHANGE_PLUS_CODON_INSERTION AC010997.1 MODERATE||ccg/ccTCCGCCTCCGCCg|P120PPPPP|208|AC010997.1|protein_coding|CODING|ENST00000438638|exon_10_77160759_77161385 . . 0/1:99:130,0,196 . 10 77161100 . GCCGCCTCCGCCTCCGCC GCCGCCTCCGCCTCCGCCTCCGCCTCCGCC CODON_CHANGE_PLUS_CODON_INSERTION ZNF503 MODERATE||ggc/ggGGCGGAGGCGGAc|G20GAEAD|609|ZNF503|protein_coding|CODING|ENST00000372516|exon_10_77160863_77161513 . . 0/1:99:130,0,196 . 10 77161100 . GCCGCCTCCGCCTCCGCC GCCGCCTCCGCCTCCGCCTCCGCCTCCGCC CODON_CHANGE_PLUS_CODON_INSERTION ZNF503 MODERATE||ggc/ggGGCGGAGGCGGAc|G20GAEAD|646|ZNF503|protein_coding|CODING|ENST00000372524|exon_10_77160863_77161664 . . 0/1:99:130,0,196 . 10 77161100 . GCCGCCTCCGCCTCCGCC GCCGCCTCCGCCTCCGCCTCCGCCTCCGCC CODON_CHANGE_PLUS_CODON_INSERTION ZNF503 MODERATE||ggc/ggGGCGGAGGCGGAc|G20GAEAD|646|ZNF503|protein_coding|CODING|ENST00000535216|exon_10_77160863_77161235 . . 0/1:99:130,0,196 . 10 79570873 rs2289310 G T NON_SYNONYMOUS_CODING DLG5 MODERATE|MISSENSE|cCa/cAa|P1141Q|1579|DLG5|protein_coding|CODING|ENST00000372388|exon_10_79570852_79570992 . . . 0/1:95:92,0,255 10 79570873 rs2289310 G T NON_SYNONYMOUS_CODING DLG5 MODERATE|MISSENSE|cCa/cAa|P1481Q|1919|DLG5|protein_coding|CODING|ENST00000372391|exon_10_79570852_79570992 . . . 0/1:95:92,0,255 10 79570873 rs2289310 G T NON_SYNONYMOUS_CODING DLG5 MODERATE|MISSENSE|cCa/cAa|P442Q|880|DLG5|protein_coding|CODING|ENST00000424842|exon_10_79570852_79570992 . . . 0/1:95:92,0,255 10 81146091 rs74319619 G A NON_SYNONYMOUS_CODING ZCCHC24 MODERATE|MISSENSE|cCg/cTg|P186L|228|ZCCHC24|protein_coding|CODING|ENST00000372333|exon_10_81145793_81146214 . 0/1:99:194,0,205 . . 10 81272814 rs200388618 G C NON_SYNONYMOUS_CODING EIF5AL1 MODERATE|MISSENSE|Gtg/Ctg|V137L|154|EIF5AL1|protein_coding|CODING|ENST00000520547|exon_10_81272357_81276188 0/1:57:248,0,54 . 0/1:99:163,0,177 . 10 81318663 rs17886395 C G NON_SYNONYMOUS_CODING SFTPA2 MODERATE|MISSENSE|Gct/Cct|A57P|214|SFTPA2|protein_coding|CODING|ENST00000537207|exon_10_81318642_81318683 1/1:63:213,33,0 . 0/1:99:133,0,228 . 10 81318663 rs17886395 C G NON_SYNONYMOUS_CODING SFTPA2 MODERATE|MISSENSE|Gct/Cct|A91P|157|SFTPA2|protein_coding|CODING|ENST00000417041|exon_10_81318642_81318761 1/1:63:213,33,0 . 0/1:99:133,0,228 . 10 81318663 rs17886395 C G NON_SYNONYMOUS_CODING SFTPA2 MODERATE|MISSENSE|Gct/Cct|A91P|248|SFTPA2|protein_coding|CODING|ENST00000372325|exon_10_81318642_81318761 1/1:63:213,33,0 . 0/1:99:133,0,228 . 10 81318663 rs17886395 C G NON_SYNONYMOUS_CODING SFTPA2 MODERATE|MISSENSE|Gct/Cct|A91P|248|SFTPA2|protein_coding|CODING|ENST00000372327|exon_10_81318642_81318761 1/1:63:213,33,0 . 0/1:99:133,0,228 . 10 81373777 rs4253527 C T NON_SYNONYMOUS_CODING SFTPA1 MODERATE|MISSENSE|Cgg/Tgg|R160W|189|SFTPA1|protein_coding|CODING|ENST00000372313|exon_10_81373493_81374268 0/1:99:230,0,251 . 0/1:99:253,0,135 . 10 81373777 rs4253527 C T NON_SYNONYMOUS_CODING SFTPA1 MODERATE|MISSENSE|Cgg/Tgg|R219W|245|SFTPA1|protein_coding|CODING|ENST00000372308|exon_10_81373493_81373858 0/1:99:230,0,251 . 0/1:99:253,0,135 . 10 81373777 rs4253527 C T NON_SYNONYMOUS_CODING SFTPA1 MODERATE|MISSENSE|Cgg/Tgg|R219W|248|SFTPA1|protein_coding|CODING|ENST00000394569|exon_10_81373493_81375197 0/1:99:230,0,251 . 0/1:99:253,0,135 . 10 81373777 rs4253527 C T NON_SYNONYMOUS_CODING SFTPA1 MODERATE|MISSENSE|Cgg/Tgg|R219W|248|SFTPA1|protein_coding|CODING|ENST00000398636|exon_10_81373493_81375196 0/1:99:230,0,251 . 0/1:99:253,0,135 . 10 81373777 rs4253527 C T NON_SYNONYMOUS_CODING SFTPA1 MODERATE|MISSENSE|Cgg/Tgg|R219W|248|SFTPA1|protein_coding|CODING|ENST00000428376|exon_10_81373493_81375196 0/1:99:230,0,251 . 0/1:99:253,0,135 . 10 81373777 rs4253527 C T NON_SYNONYMOUS_CODING SFTPA1 MODERATE|MISSENSE|Cgg/Tgg|R234W|263|SFTPA1|protein_coding|CODING|ENST00000419470|exon_10_81373493_81373954 0/1:99:230,0,251 . 0/1:99:253,0,135 . 10 81608368 rs78803171 A G NON_SYNONYMOUS_CODING FAM22E MODERATE|MISSENSE|cAg/cGg|Q484R|878|FAM22E|protein_coding|CODING|ENST00000429984|exon_10_81608269_81608651 0/1:67:64,0,89 . . . 10 82013047 rs72809528 T C NON_SYNONYMOUS_CODING AL359195.1 MODERATE|MISSENSE|Tgg/Cgg|W189R|280|AL359195.1|protein_coding|CODING|ENST00000356374|exon_10_82009466_82013395 . . 0/1:99:255,0,255 . 10 85902461 rs200682505 A T NON_SYNONYMOUS_CODING GHITM MODERATE|MISSENSE|caA/caT|Q47H|332|GHITM|protein_coding|CODING|ENST00000538477|exon_10_85902411_85902510 . 0/1:99:255,0,255 . . 10 85902461 rs200682505 A T NON_SYNONYMOUS_CODING GHITM MODERATE|MISSENSE|caA/caT|Q60H|319|GHITM|protein_coding|CODING|ENST00000436406|exon_10_85902411_85902510 . 0/1:99:255,0,255 . . 10 85902461 rs200682505 A T NON_SYNONYMOUS_CODING GHITM MODERATE|MISSENSE|caA/caT|Q60H|325|GHITM|protein_coding|CODING|ENST00000339736|exon_10_85902411_85902510 . 0/1:99:255,0,255 . . 10 85902461 rs200682505 A T NON_SYNONYMOUS_CODING GHITM MODERATE|MISSENSE|caA/caT|Q60H|345|GHITM|protein_coding|CODING|ENST00000372134|exon_10_85902411_85902510 . 0/1:99:255,0,255 . . 10 85992390 rs12262099 G T NON_SYNONYMOUS_CODING LRIT1 MODERATE|MISSENSE|Ccc/Acc|P389T|623|LRIT1|protein_coding|CODING|ENST00000372105|exon_10_85991349_85992659 . . 0/1:99:166,0,237 . 10 86177546 . A G NON_SYNONYMOUS_CODING FAM190B MODERATE|MISSENSE|gAa/gGa|E545G|1047|FAM190B|protein_coding|CODING|ENST00000372088|exon_10_86177527_86177617 0/1:99:255,0,207 . . . 10 86177546 . A G NON_SYNONYMOUS_CODING FAM190B MODERATE|MISSENSE|gAa/gGa|E545G|834|FAM190B|protein_coding|CODING|ENST00000224756|exon_10_86177527_86177617 0/1:99:255,0,207 . . . 10 88676975 . C T NON_SYNONYMOUS_CODING BMPR1A MODERATE|MISSENSE|Cgt/Tgt|R254C|532|BMPR1A|protein_coding|CODING|ENST00000224764|exon_10_88676891_88677083 . . . 0/1:99:138,0,231 10 88676975 . C T NON_SYNONYMOUS_CODING BMPR1A MODERATE|MISSENSE|Cgt/Tgt|R254C|532|BMPR1A|protein_coding|CODING|ENST00000372037|exon_10_88676891_88677083 . . . 0/1:99:138,0,231 10 88988562 rs200895588 G A NON_SYNONYMOUS_CODING FAM22A MODERATE|MISSENSE|Ggc/Agc|G236S|805|FAM22A|protein_coding|CODING|ENST00000416901|exon_10_88988020_88988719 . . 0/1:27:133,0,24 . 10 88988562 rs200895588 G A NON_SYNONYMOUS_CODING FAM22A MODERATE|MISSENSE|Ggc/Agc|G309S|629|FAM22A|protein_coding|CODING|ENST00000381689|exon_10_88988020_88988719 . . 0/1:27:133,0,24 . 10 88988562 rs200895588 G A NON_SYNONYMOUS_CODING FAM22A MODERATE|MISSENSE|Ggc/Agc|G309S|878|FAM22A|protein_coding|CODING|ENST00000381707|exon_10_88988020_88988719 . . 0/1:27:133,0,24 . 10 88988617 rs199682805 G A NON_SYNONYMOUS_CODING FAM22A MODERATE|MISSENSE|aGg/aAg|R254K|805|FAM22A|protein_coding|CODING|ENST00000416901|exon_10_88988020_88988719 . . 0/1:60:117,0,57 . 10 88988617 rs199682805 G A NON_SYNONYMOUS_CODING FAM22A MODERATE|MISSENSE|aGg/aAg|R327K|629|FAM22A|protein_coding|CODING|ENST00000381689|exon_10_88988020_88988719 . . 0/1:60:117,0,57 . 10 88988617 rs199682805 G A NON_SYNONYMOUS_CODING FAM22A MODERATE|MISSENSE|aGg/aAg|R327K|878|FAM22A|protein_coding|CODING|ENST00000381707|exon_10_88988020_88988719 . . 0/1:60:117,0,57 . 10 89118125 rs77153116 C T NON_SYNONYMOUS_CODING FAM22D MODERATE|MISSENSE|Cat/Tat|H106Y|877|FAM22D|protein_coding|CODING|ENST00000330762|exon_10_89118059_89118188 . . 0/1:99:205,0,255 . 10 89118125 rs77153116 C T NON_SYNONYMOUS_CODING FAM22D MODERATE|MISSENSE|Cat/Tat|H35Y|557|FAM22D|protein_coding|CODING|ENST00000412718|exon_10_89117477_89118188 . . 0/1:99:205,0,255 . 10 89118125 rs77153116 C T NON_SYNONYMOUS_CODING FAM22D MODERATE|MISSENSE|Cat/Tat|H35Y|806|FAM22D|protein_coding|CODING|ENST00000381697|exon_10_89117425_89118188 . . 0/1:99:205,0,255 . 10 89120493 rs202030686 C T NON_SYNONYMOUS_CODING FAM22D MODERATE|MISSENSE|cCt/cTt|P141L|557|FAM22D|protein_coding|CODING|ENST00000412718|exon_10_89120238_89120937 . . 1/1:14:206,8,0 . 10 89120493 rs202030686 C T NON_SYNONYMOUS_CODING FAM22D MODERATE|MISSENSE|cCt/cTt|P141L|806|FAM22D|protein_coding|CODING|ENST00000381697|exon_10_89120238_89120937 . . 1/1:14:206,8,0 . 10 89120493 rs202030686 C T NON_SYNONYMOUS_CODING FAM22D MODERATE|MISSENSE|cCt/cTt|P212L|877|FAM22D|protein_coding|CODING|ENST00000330762|exon_10_89120238_89120937 . . 1/1:14:206,8,0 . 10 89124859 rs201741914 G A NON_SYNONYMOUS_CODING FAM22D MODERATE|MISSENSE|Ggc/Agc|G22S|262|FAM22D|protein_coding|CODING|ENST00000381691|exon_10_89124578_89124960 . . . 1/1:79:77,42,0 10 89124859 rs201741914 G A NON_SYNONYMOUS_CODING FAM22D MODERATE|MISSENSE|Ggc/Agc|G473S|557|FAM22D|protein_coding|CODING|ENST00000412718|exon_10_89124578_89124960 . . . 1/1:79:77,42,0 10 89124859 rs201741914 G A NON_SYNONYMOUS_CODING FAM22D MODERATE|MISSENSE|Ggc/Agc|G473S|806|FAM22D|protein_coding|CODING|ENST00000381697|exon_10_89124578_89124960 . . . 1/1:79:77,42,0 10 89124859 rs201741914 G A NON_SYNONYMOUS_CODING FAM22D MODERATE|MISSENSE|Ggc/Agc|G544S|877|FAM22D|protein_coding|CODING|ENST00000330762|exon_10_89124578_89124960 . . . 1/1:79:77,42,0 10 89468953 rs17173698 G A NON_SYNONYMOUS_CODING PAPSS2 MODERATE|MISSENSE|Gag/Aag|E10K|614|PAPSS2|protein_coding|CODING|ENST00000361175|exon_10_89468953_89469070 . . 0/1:99:255,0,208 . 10 89468953 rs17173698 G A NON_SYNONYMOUS_CODING PAPSS2 MODERATE|MISSENSE|Gag/Aag|E10K|619|PAPSS2|protein_coding|CODING|ENST00000456849|exon_10_89468953_89469070 . . 0/1:99:255,0,208 . 10 89468953 rs17173698 G A NON_SYNONYMOUS_CODING PAPSS2 MODERATE|MISSENSE|Gag/Aag|E14K|618|PAPSS2|protein_coding|CODING|ENST00000427144|exon_10_89468953_89469070 . . 0/1:99:255,0,208 . 10 89468953 rs17173698 G A NON_SYNONYMOUS_CODING PAPSS2 MODERATE|MISSENSE|Gag/Aag|E9K|618|PAPSS2|protein_coding|CODING|ENST00000371981|exon_10_89468951_89469070 . . 0/1:99:255,0,208 . 10 90497425 . A G NON_SYNONYMOUS_CODING LIPK MODERATE|MISSENSE|Aca/Gca|T235A|399|LIPK|protein_coding|CODING|ENST00000404190|exon_10_90497392_90497538 0/1:99:255,0,227 . . . 10 90673203 rs146759776 A G NON_SYNONYMOUS_CODING STAMBPL1 MODERATE|MISSENSE|Agt/Ggt|S256G|436|STAMBPL1|protein_coding|CODING|ENST00000371924|exon_10_90672858_90673215 0/1:99:255,0,255 . . . 10 90673203 rs146759776 A G NON_SYNONYMOUS_CODING STAMBPL1 MODERATE|MISSENSE|Agt/Ggt|S256G|436|STAMBPL1|protein_coding|CODING|ENST00000371926|exon_10_90672858_90673215 0/1:99:255,0,255 . . . 10 90673203 rs146759776 A G NON_SYNONYMOUS_CODING STAMBPL1 MODERATE|MISSENSE|Agt/Ggt|S256G|461|STAMBPL1|protein_coding|CODING|ENST00000371927|exon_10_90672858_90673215 0/1:99:255,0,255 . . . 10 90673203 rs146759776 A G NON_SYNONYMOUS_CODING STAMBPL1 MODERATE|MISSENSE|Agt/Ggt|S90G|270|STAMBPL1|protein_coding|CODING|ENST00000371922|exon_10_90672113_90673215 0/1:99:255,0,255 . . . 10 90749256 rs2234767 G A NON_SYNONYMOUS_CODING FAS MODERATE|MISSENSE|Gcc/Acc|A11T|362|FAS|protein_coding|CODING|ENST00000540197|exon_10_90749226_90749336 . 0/1:99:255,0,215 . . 10 91007339 rs1051339 C T NON_SYNONYMOUS_CODING LIPA MODERATE|MISSENSE|Gga/Aga|G23R|136|LIPA|protein_coding|CODING|ENST00000542307|exon_10_91007295_91007406 . . . 0/1:99:231,0,255 10 91007339 rs1051339 C T NON_SYNONYMOUS_CODING LIPA MODERATE|MISSENSE|Gga/Aga|G23R|218|LIPA|protein_coding|CODING|ENST00000282673|exon_10_91007295_91007406 . . . 0/1:99:231,0,255 10 91007339 rs1051339 C T NON_SYNONYMOUS_CODING LIPA MODERATE|MISSENSE|Gga/Aga|G23R|289|LIPA|protein_coding|CODING|ENST00000428800|exon_10_91007295_91007588 . . . 0/1:99:231,0,255 10 91007339 rs1051339 C T NON_SYNONYMOUS_CODING LIPA MODERATE|MISSENSE|Gga/Aga|G23R|399|LIPA|protein_coding|CODING|ENST00000336233|exon_10_91007295_91007406 . . . 0/1:99:231,0,255 10 91007339 rs1051339 C T NON_SYNONYMOUS_CODING LIPA MODERATE|MISSENSE|Gga/Aga|G23R|399|LIPA|protein_coding|CODING|ENST00000371829|exon_10_91007295_91007406 . . . 0/1:99:231,0,255 10 91007339 rs1051339 C T NON_SYNONYMOUS_CODING LIPA MODERATE|MISSENSE|Gga/Aga|G23R|399|LIPA|protein_coding|CODING|ENST00000456827|exon_10_91007295_91007406 . . . 0/1:99:231,0,255 10 91007339 rs1051339 C T NON_SYNONYMOUS_CODING LIPA MODERATE|MISSENSE|Gga/Aga|G23R|399|LIPA|protein_coding|CODING|ENST00000541980|exon_10_91007295_91007406 . . . 0/1:99:231,0,255 10 91065949 rs17468739 A C NON_SYNONYMOUS_CODING IFIT2 MODERATE|MISSENSE|gAg/gCg|E79A|472|IFIT2|protein_coding|CODING|ENST00000371826|exon_10_91065719_91069033 . 0/1:99:241,0,242 . 0/1:99:180,0,233 10 91497375 . ATTTAACTTTAA ATTTAA CODON_CHANGE_PLUS_CODON_DELETION KIF20B MODERATE||actttaagt/agt|TLS888S|1780|KIF20B|protein_coding|CODING|ENST00000260753|exon_10_91497144_91498374 . 0/1:99:213,0,255 . . 10 91497375 . ATTTAACTTTAA ATTTAA CODON_CHANGE_PLUS_CODON_DELETION KIF20B MODERATE||actttaagt/agt|TLS928S|1722|KIF20B|protein_coding|CODING|ENST00000394289|exon_10_91497144_91498374 . 0/1:99:213,0,255 . . 10 91497375 . ATTTAACTTTAA ATTTAA CODON_CHANGE_PLUS_CODON_DELETION KIF20B MODERATE||actttaagt/agt|TLS928S|1820|KIF20B|protein_coding|CODING|ENST00000371728|exon_10_91497144_91498374 . 0/1:99:213,0,255 . . 10 91497375 . ATTTAACTTTAA ATTTAA CODON_CHANGE_PLUS_CODON_DELETION KIF20B MODERATE||actttaagt/agt|TLS958S|1850|KIF20B|protein_coding|CODING|ENST00000416354|exon_10_91497145_91498374 . 0/1:99:213,0,255 . . 10 93668408 rs10881994 C T NON_SYNONYMOUS_CODING FGFBP3 MODERATE|MISSENSE|Gcg/Acg|A107T|258|FGFBP3|protein_coding|CODING|ENST00000311575|exon_10_93666346_93668804 . 0/1:99:255,0,205 . . 10 95134707 rs150897152 G A NON_SYNONYMOUS_CODING MYOF MODERATE|MISSENSE|aCg/aTg|T692M|2048|MYOF|protein_coding|CODING|ENST00000358334|exon_10_95134520_95134712 . . 0/1:99:255,0,231 . 10 95134707 rs150897152 G A NON_SYNONYMOUS_CODING MYOF MODERATE|MISSENSE|aCg/aTg|T705M|2051|MYOF|protein_coding|CODING|ENST00000371502|exon_10_95134520_95134712 . . 0/1:99:255,0,231 . 10 95134707 rs150897152 G A NON_SYNONYMOUS_CODING MYOF MODERATE|MISSENSE|aCg/aTg|T705M|2061|MYOF|protein_coding|CODING|ENST00000359263|exon_10_95134520_95134712 . . 0/1:99:255,0,231 . 10 95134707 rs150897152 G A NON_SYNONYMOUS_CODING MYOF MODERATE|MISSENSE|aCg/aTg|T705M|2061|MYOF|protein_coding|CODING|ENST00000371501|exon_10_95134520_95134712 . . 0/1:99:255,0,231 . 10 95353604 rs116887052 G T NON_SYNONYMOUS_CODING RBP4 MODERATE|MISSENSE|Cag/Aag|Q180K|199|RBP4|protein_coding|CODING|ENST00000371463|exon_10_95353580_95353792 . 0/1:99:177,0,149 0/1:99:230,0,229 . 10 95353604 rs116887052 G T NON_SYNONYMOUS_CODING RBP4 MODERATE|MISSENSE|Cag/Aag|Q180K|199|RBP4|protein_coding|CODING|ENST00000371469|exon_10_95353580_95353792 . 0/1:99:177,0,149 0/1:99:230,0,229 . 10 95353604 rs116887052 G T NON_SYNONYMOUS_CODING RBP4 MODERATE|MISSENSE|Cag/Aag|Q182K|201|RBP4|protein_coding|CODING|ENST00000371464|exon_10_95353580_95353792 . 0/1:99:177,0,149 0/1:99:230,0,229 . 10 95353604 rs116887052 G T NON_SYNONYMOUS_CODING RBP4 MODERATE|MISSENSE|Cag/Aag|Q182K|201|RBP4|protein_coding|CODING|ENST00000371467|exon_10_95353580_95353792 . 0/1:99:177,0,149 0/1:99:230,0,229 . 10 95441272 rs11187583 G A NON_SYNONYMOUS_CODING FRA10AC1 MODERATE|MISSENSE|tCt/tTt|S251F|276|FRA10AC1|protein_coding|CODING|ENST00000536233|exon_10_95441237_95441355 0/1:99:255,0,223 . . . 10 95441272 rs11187583 G A NON_SYNONYMOUS_CODING FRA10AC1 MODERATE|MISSENSE|tCt/tTt|S251F|292|FRA10AC1|protein_coding|CODING|ENST00000394100|exon_10_95441237_95441355 0/1:99:255,0,223 . . . 10 95441272 rs11187583 G A NON_SYNONYMOUS_CODING FRA10AC1 MODERATE|MISSENSE|tCt/tTt|S251F|313|FRA10AC1|protein_coding|CODING|ENST00000371430|exon_10_95441237_95441355 0/1:99:255,0,223 . . . 10 95441272 rs11187583 G A NON_SYNONYMOUS_CODING FRA10AC1 MODERATE|MISSENSE|tCt/tTt|S251F|314|FRA10AC1|protein_coding|CODING|ENST00000371426|exon_10_95441237_95441355 0/1:99:255,0,223 . . . 10 95441272 rs11187583 G A NON_SYNONYMOUS_CODING FRA10AC1 MODERATE|MISSENSE|tCt/tTt|S251F|315|FRA10AC1|protein_coding|CODING|ENST00000359204|exon_10_95441237_95441355 0/1:99:255,0,223 . . . 10 96104665 rs3758526 T G NON_SYNONYMOUS_CODING NOC3L MODERATE|MISSENSE|gAg/gCg|E210A|501|NOC3L|protein_coding|CODING|ENST00000543788|exon_10_96104610_96104690 0/1:99:255,0,255 . . . 10 96104665 rs3758526 T G NON_SYNONYMOUS_CODING NOC3L MODERATE|MISSENSE|gAg/gCg|E472A|800|NOC3L|protein_coding|CODING|ENST00000371350|exon_10_96104610_96104690 0/1:99:255,0,255 . . . 10 96104665 rs3758526 T G NON_SYNONYMOUS_CODING NOC3L MODERATE|MISSENSE|gAg/gCg|E472A|800|NOC3L|protein_coding|CODING|ENST00000371361|exon_10_96104610_96104690 0/1:99:255,0,255 . . . 10 96114835 rs12572897 G A NON_SYNONYMOUS_CODING NOC3L MODERATE|MISSENSE|cCt/cTt|P194L|800|NOC3L|protein_coding|CODING|ENST00000371350|exon_10_96114720_96114850 0/1:99:255,0,255 . . . 10 96114835 rs12572897 G A NON_SYNONYMOUS_CODING NOC3L MODERATE|MISSENSE|cCt/cTt|P194L|800|NOC3L|protein_coding|CODING|ENST00000371361|exon_10_96114720_96114850 0/1:99:255,0,255 . . . 10 96121505 rs140289143 T C NON_SYNONYMOUS_CODING NOC3L MODERATE|MISSENSE|gAa/gGa|E45G|800|NOC3L|protein_coding|CODING|ENST00000371350|exon_10_96121422_96121629 . 0/1:99:255,0,255 . . 10 96121505 rs140289143 T C NON_SYNONYMOUS_CODING NOC3L MODERATE|MISSENSE|gAa/gGa|E45G|800|NOC3L|protein_coding|CODING|ENST00000371361|exon_10_96121422_96121629 . 0/1:99:255,0,255 . . 10 97698338 rs35298116 G A NON_SYNONYMOUS_CODING C10orf131 MODERATE|MISSENSE|cGc/cAc|R171H|256|C10orf131|protein_coding|CODING|ENST00000371202|exon_10_97698326_97698466 0/1:99:255,0,255 . . . 10 97772358 rs17383738 A G NON_SYNONYMOUS_CODING CC2D2B MODERATE|MISSENSE|Aac/Gac|N125D|194|CC2D2B|protein_coding|CODING|ENST00000424464|exon_10_97772289_97772486 0/1:99:255,0,255 0/1:99:255,0,255 . . 10 97772358 rs17383738 A G NON_SYNONYMOUS_CODING CC2D2B MODERATE|MISSENSE|Aac/Gac|N64D|322|CC2D2B|protein_coding|CODING|ENST00000344386|exon_10_97772289_97772486 0/1:99:255,0,255 0/1:99:255,0,255 . . 10 97772358 rs17383738 A G NON_SYNONYMOUS_CODING CC2D2B MODERATE|MISSENSE|Aac/Gac|N64D|376|CC2D2B|protein_coding|CODING|ENST00000410012|exon_10_97772289_97772486 0/1:99:255,0,255 0/1:99:255,0,255 . . 10 97772358 rs17383738 A G NON_SYNONYMOUS_CODING CC2D2B MODERATE|MISSENSE|Aac/Gac|N64D|401|CC2D2B|protein_coding|CODING|ENST00000451649|exon_10_97772289_97772486 0/1:99:255,0,255 0/1:99:255,0,255 . . 10 98346579 . G A NON_SYNONYMOUS_CODING TM9SF3 MODERATE|MISSENSE|cCt/cTt|P5L|589|TM9SF3|protein_coding|CODING|ENST00000371142|exon_10_98346491_98346809 . . . 0/1:42:141,0,39 10 99141192 rs139484717 C T NON_SYNONYMOUS_CODING RRP12 MODERATE|MISSENSE|Gtg/Atg|V175M|1015|RRP12|protein_coding|CODING|ENST00000536831|exon_10_99141143_99141240 0/1:99:191,0,174 . . . 10 99141192 rs139484717 C T NON_SYNONYMOUS_CODING RRP12 MODERATE|MISSENSE|Gtg/Atg|V357M|1197|RRP12|protein_coding|CODING|ENST00000315563|exon_10_99141143_99141240 0/1:99:191,0,174 . . . 10 99141192 rs139484717 C T NON_SYNONYMOUS_CODING RRP12 MODERATE|MISSENSE|Gtg/Atg|V396M|1236|RRP12|protein_coding|CODING|ENST00000414986|exon_10_99141143_99141240 0/1:99:191,0,174 . . . 10 99141192 rs139484717 C T NON_SYNONYMOUS_CODING RRP12 MODERATE|MISSENSE|Gtg/Atg|V457M|1297|RRP12|protein_coding|CODING|ENST00000370992|exon_10_99141143_99141240 0/1:99:191,0,174 . . . 10 99327674 rs148532930 G A NON_SYNONYMOUS_CODING UBTD1 MODERATE|MISSENSE|cGc/cAc|R25H|227|UBTD1|protein_coding|CODING|ENST00000370664|exon_10_99327671_99327898 . . . 0/1:99:178,0,221 10 99531284 rs143647630 C T NON_SYNONYMOUS_CODING SFRP5 MODERATE|MISSENSE|Gat/Aat|D103N|317|SFRP5|protein_coding|CODING|ENST00000266066|exon_10_99531062_99531709 . . 0/1:99:99,0,205 . 10 99640120 rs2297935 C T NON_SYNONYMOUS_CODING CRTAC1 MODERATE|MISSENSE|Gtg/Atg|V561M|637|CRTAC1|protein_coding|CODING|ENST00000309155|exon_10_99640006_99640149 . 0/1:99:242,0,255 . . 10 99640120 rs2297935 C T NON_SYNONYMOUS_CODING CRTAC1 MODERATE|MISSENSE|Gtg/Atg|V569M|645|CRTAC1|protein_coding|CODING|ENST00000370591|exon_10_99640006_99640149 . 0/1:99:242,0,255 . . 10 99640120 rs2297935 C T NON_SYNONYMOUS_CODING CRTAC1 MODERATE|MISSENSE|Gtg/Atg|V569M|661|CRTAC1|protein_coding|CODING|ENST00000370597|exon_10_99640006_99640149 . 0/1:99:242,0,255 . . 10 102295657 rs111981934 T G NON_SYNONYMOUS_CODING HIF1AN MODERATE|MISSENSE|tTt/tGt|F14C|382|HIF1AN|protein_coding|CODING|ENST00000442724|exon_10_102295650_102295892 . . 0/1:99:144,0,241 . 10 102744376 rs11190780 T C NON_SYNONYMOUS_CODING SEMA4G MODERATE|MISSENSE|aTg/aCg|M612T|702|SEMA4G|protein_coding|CODING|ENST00000517724|exon_10_102744247_102745015 . . 0/1:99:223,0,248 . 10 102775529 rs112571971 C T NON_SYNONYMOUS_CODING PDZD7 MODERATE|MISSENSE|gGg/gAg|G538E|1033|PDZD7|protein_coding|CODING|ENST00000393462|exon_10_102775393_102775568 . 0/1:99:201,0,213 . . 10 102824292 rs11190812 G A NON_SYNONYMOUS_CODING KAZALD1 MODERATE|MISSENSE|gGc/gAc|G236D|304|KAZALD1|protein_coding|CODING|ENST00000370200|exon_10_102824258_102824405 . 0/1:99:153,0,237 . . 10 103371095 rs200476624 C T NON_SYNONYMOUS_CODING FBXW4 MODERATE|MISSENSE|Gct/Act|A398T|412|FBXW4|protein_coding|CODING|ENST00000331272|exon_10_103370423_103371167 . . 0/1:99:178,0,255 . 10 103371095 rs200476624 C T NON_SYNONYMOUS_CODING FBXW4 MODERATE|MISSENSE|Gct/Act|A398T|412|FBXW4|protein_coding|CODING|ENST00000389046|exon_10_103370424_103371167 . . 0/1:99:178,0,255 . 10 103454391 rs111600818 C G NON_SYNONYMOUS_CODING FBXW4 MODERATE|MISSENSE|Gcg/Ccg|A3P|412|FBXW4|protein_coding|CODING|ENST00000331272|exon_10_103454138_103455016 0/1:89:86,0,155 . . . 10 103454391 rs111600818 C G NON_SYNONYMOUS_CODING FBXW4 MODERATE|MISSENSE|Gcg/Ccg|A3P|412|FBXW4|protein_coding|CODING|ENST00000389046|exon_10_103454138_103454743 0/1:89:86,0,155 . . . 10 103563551 . T A NON_SYNONYMOUS_CODING MGEA5 MODERATE|MISSENSE|cAc/cTc|H241L|255|MGEA5|protein_coding|CODING|ENST00000429860|exon_10_103563504_103563776 0/1:99:255,0,223 . . . 10 103563551 . T A NON_SYNONYMOUS_CODING MGEA5 MODERATE|MISSENSE|cAc/cTc|H326L|677|MGEA5|protein_coding|CODING|ENST00000370094|exon_10_103563492_103563776 0/1:99:255,0,223 . . . 10 103563551 . T A NON_SYNONYMOUS_CODING MGEA5 MODERATE|MISSENSE|cAc/cTc|H326L|849|MGEA5|protein_coding|CODING|ENST00000357797|exon_10_103563492_103563776 0/1:99:255,0,223 . . . 10 103563551 . T A NON_SYNONYMOUS_CODING MGEA5 MODERATE|MISSENSE|cAc/cTc|H326L|863|MGEA5|protein_coding|CODING|ENST00000439817|exon_10_103563492_103563776 0/1:99:255,0,223 . . . 10 103563551 . T A NON_SYNONYMOUS_CODING MGEA5 MODERATE|MISSENSE|cAc/cTc|H326L|916|MGEA5|protein_coding|CODING|ENST00000361464|exon_10_103563492_103563776 0/1:99:255,0,223 . . . 10 104678350 rs76057237 G A NON_SYNONYMOUS_CODING CNNM2 MODERATE|MISSENSE|cGg/cAg|R38Q|552|CNNM2|protein_coding|CODING|ENST00000369875|exon_10_104678074_104679858 . 1/1:99:255,78,0 . . 10 104678350 rs76057237 G A NON_SYNONYMOUS_CODING CNNM2 MODERATE|MISSENSE|cGg/cAg|R38Q|574|CNNM2|protein_coding|CODING|ENST00000541201|exon_10_104678114_104679858 . 1/1:99:255,78,0 . . 10 104678350 rs76057237 G A NON_SYNONYMOUS_CODING CNNM2 MODERATE|MISSENSE|cGg/cAg|R38Q|853|CNNM2|protein_coding|CODING|ENST00000345419|exon_10_104678114_104679858 . 1/1:99:255,78,0 . . 10 104678350 rs76057237 G A NON_SYNONYMOUS_CODING CNNM2 MODERATE|MISSENSE|cGg/cAg|R38Q|854|CNNM2|protein_coding|CODING|ENST00000433628|exon_10_104678071_104679858 . 1/1:99:255,78,0 . . 10 104678350 rs76057237 G A NON_SYNONYMOUS_CODING CNNM2 MODERATE|MISSENSE|cGg/cAg|R38Q|875|CNNM2|protein_coding|CODING|ENST00000369878|exon_10_104678114_104679858 . 1/1:99:255,78,0 . . 10 104678350 rs76057237 G A NON_SYNONYMOUS_CODING CNNM2 MODERATE|MISSENSE|cGg/cAg|R38Q|876|CNNM2|protein_coding|CODING|ENST00000457502|exon_10_104678071_104679858 . 1/1:99:255,78,0 . . 10 105048217 rs34440112 A C NON_SYNONYMOUS_CODING INA MODERATE|MISSENSE|Atc/Ctc|I431L|499|INA|protein_coding|CODING|ENST00000369849|exon_10_105048117_105050108 . 0/1:99:255,0,228 . . 10 105177645 rs11598673 G T NON_SYNONYMOUS_CODING PDCD11 MODERATE|MISSENSE|Gca/Tca|A623S|1233|PDCD11|protein_coding|CODING|ENST00000543503|exon_10_105177549_105177689 . . . 0/1:99:228,0,185 10 105177645 rs11598673 G T NON_SYNONYMOUS_CODING PDCD11 MODERATE|MISSENSE|Gca/Tca|A623S|1871|PDCD11|protein_coding|CODING|ENST00000369797|exon_10_105177549_105177689 . . . 0/1:99:228,0,185 10 105178291 . T C NON_SYNONYMOUS_CODING PDCD11 MODERATE|MISSENSE|cTg/cCg|L669P|1233|PDCD11|protein_coding|CODING|ENST00000543503|exon_10_105178197_105178391 . . . 0/1:99:145,0,192 10 105178291 . T C NON_SYNONYMOUS_CODING PDCD11 MODERATE|MISSENSE|cTg/cCg|L669P|1871|PDCD11|protein_coding|CODING|ENST00000369797|exon_10_105178197_105178391 . . . 0/1:99:145,0,192 10 105215091 rs41287500 C T NON_SYNONYMOUS_CODING CALHM1 MODERATE|MISSENSE|atG/atA|M323I|346|CALHM1|protein_coding|CODING|ENST00000329905|exon_10_105213144_105215504 . 0/1:99:255,0,147 . . 10 105215216 rs41287502 C A NON_SYNONYMOUS_CODING CALHM1 MODERATE|MISSENSE|Ggt/Tgt|G282C|346|CALHM1|protein_coding|CODING|ENST00000329905|exon_10_105213144_105215504 . 0/1:99:217,0,230 . . 10 105371375 rs202011870 A C NON_SYNONYMOUS_CODING SH3PXD2A MODERATE|MISSENSE|cTa/cGa|L231R|940|SH3PXD2A|protein_coding|CODING|ENST00000315994|exon_10_105371338_105371387 0/1:99:237,0,225 . . . 10 105371375 rs202011870 A C NON_SYNONYMOUS_CODING SH3PXD2A MODERATE|MISSENSE|cTa/cGa|L259R|968|SH3PXD2A|protein_coding|CODING|ENST00000538130|exon_10_105371338_105371387 0/1:99:237,0,225 . . . 10 105371375 rs202011870 A C NON_SYNONYMOUS_CODING SH3PXD2A MODERATE|MISSENSE|cTa/cGa|L286R|369|SH3PXD2A|protein_coding|CODING|ENST00000427662|exon_10_105371338_105371387 0/1:99:237,0,225 . . . 10 105371375 rs202011870 A C NON_SYNONYMOUS_CODING SH3PXD2A MODERATE|MISSENSE|cTa/cGa|L291R|1000|SH3PXD2A|protein_coding|CODING|ENST00000540321|exon_10_105371338_105371387 0/1:99:237,0,225 . . . 10 105371375 rs202011870 A C NON_SYNONYMOUS_CODING SH3PXD2A MODERATE|MISSENSE|cTa/cGa|L339R|965|SH3PXD2A|protein_coding|CODING|ENST00000536035|exon_10_105371338_105371387 0/1:99:237,0,225 . . . 10 105371375 rs202011870 A C NON_SYNONYMOUS_CODING SH3PXD2A MODERATE|MISSENSE|cTa/cGa|L396R|1105|SH3PXD2A|protein_coding|CODING|ENST00000355946|exon_10_105371338_105371387 0/1:99:237,0,225 . . . 10 105371375 rs202011870 A C NON_SYNONYMOUS_CODING SH3PXD2A MODERATE|MISSENSE|cTa/cGa|L424R|1133|SH3PXD2A|protein_coding|CODING|ENST00000369774|exon_10_105371338_105371387 0/1:99:237,0,225 . . . 10 108338917 rs11192966 T C NON_SYNONYMOUS_CODING SORCS1 MODERATE|MISSENSE|aAt/aGt|N1155S|1198|SORCS1|protein_coding|CODING|ENST00000344440|exon_10_108338849_108339009 0/1:99:255,0,226 . . . 10 108338917 rs11192966 T C NON_SYNONYMOUS_CODING SORCS1 MODERATE|MISSENSE|aAt/aGt|N690S|714|SORCS1|protein_coding|CODING|ENST00000369698|exon_10_108338849_108339009 0/1:99:255,0,226 . . . 10 115348046 rs7080536 G A NON_SYNONYMOUS_CODING HABP2 MODERATE|MISSENSE|gGg/gAg|G508E|534|HABP2|protein_coding|CODING|ENST00000542051|exon_10_115347964_115349361 . 0/1:99:243,0,230 . . 10 115348046 rs7080536 G A NON_SYNONYMOUS_CODING HABP2 MODERATE|MISSENSE|gGg/gAg|G534E|560|HABP2|protein_coding|CODING|ENST00000351270|exon_10_115347964_115349358 . 0/1:99:243,0,230 . . 10 115355485 rs181024055 C T NON_SYNONYMOUS_CODING NRAP MODERATE|MISSENSE|cGc/cAc|R1443H|1695|NRAP|protein_coding|CODING|ENST00000360478|exon_10_115355382_115355486 0/1:99:249,0,255 . . . 10 115355485 rs181024055 C T NON_SYNONYMOUS_CODING NRAP MODERATE|MISSENSE|cGc/cAc|R1451H|1703|NRAP|protein_coding|CODING|ENST00000369360|exon_10_115355382_115355486 0/1:99:249,0,255 . . . 10 115355485 rs181024055 C T NON_SYNONYMOUS_CODING NRAP MODERATE|MISSENSE|cGc/cAc|R1478H|1730|NRAP|protein_coding|CODING|ENST00000359988|exon_10_115355382_115355486 0/1:99:249,0,255 . . . 10 115355485 rs181024055 C T NON_SYNONYMOUS_CODING NRAP MODERATE|MISSENSE|cGc/cAc|R1486H|1738|NRAP|protein_coding|CODING|ENST00000369358|exon_10_115355382_115355486 0/1:99:249,0,255 . . . 10 115355485 rs181024055 C T NON_SYNONYMOUS_CODING NRAP MODERATE|MISSENSE|cGc/cAc|R636H|852|NRAP|protein_coding|CODING|ENST00000369350|exon_10_115355382_115355486 0/1:99:249,0,255 . . . 10 115377290 rs77678145 T C NON_SYNONYMOUS_CODING NRAP MODERATE|MISSENSE|gAt/gGt|D931G|1695|NRAP|protein_coding|CODING|ENST00000360478|exon_10_115377214_115377312 . 0/1:99:255,0,255 0/1:99:255,0,210 . 10 115377290 rs77678145 T C NON_SYNONYMOUS_CODING NRAP MODERATE|MISSENSE|gAt/gGt|D939G|1703|NRAP|protein_coding|CODING|ENST00000369360|exon_10_115377214_115377312 . 0/1:99:255,0,255 0/1:99:255,0,210 . 10 115377290 rs77678145 T C NON_SYNONYMOUS_CODING NRAP MODERATE|MISSENSE|gAt/gGt|D966G|1730|NRAP|protein_coding|CODING|ENST00000359988|exon_10_115377214_115377312 . 0/1:99:255,0,255 0/1:99:255,0,210 . 10 115377290 rs77678145 T C NON_SYNONYMOUS_CODING NRAP MODERATE|MISSENSE|gAt/gGt|D974G|1738|NRAP|protein_coding|CODING|ENST00000369358|exon_10_115377214_115377312 . 0/1:99:255,0,255 0/1:99:255,0,210 . 10 115381747 rs868738 G A NON_SYNONYMOUS_CODING NRAP MODERATE|MISSENSE|Cgc/Tgc|R849C|1695|NRAP|protein_coding|CODING|ENST00000360478|exon_10_115381628_115381939 . 0/1:99:255,0,255 0/1:99:255,0,232 0/1:99:255,0,210 10 115381747 rs868738 G A NON_SYNONYMOUS_CODING NRAP MODERATE|MISSENSE|Cgc/Tgc|R857C|1703|NRAP|protein_coding|CODING|ENST00000369360|exon_10_115381628_115381939 . 0/1:99:255,0,255 0/1:99:255,0,232 0/1:99:255,0,210 10 115381747 rs868738 G A NON_SYNONYMOUS_CODING NRAP MODERATE|MISSENSE|Cgc/Tgc|R884C|1730|NRAP|protein_coding|CODING|ENST00000359988|exon_10_115381628_115381939 . 0/1:99:255,0,255 0/1:99:255,0,232 0/1:99:255,0,210 10 115381747 rs868738 G A NON_SYNONYMOUS_CODING NRAP MODERATE|MISSENSE|Cgc/Tgc|R892C|1738|NRAP|protein_coding|CODING|ENST00000369358|exon_10_115381628_115381939 . 0/1:99:255,0,255 0/1:99:255,0,232 0/1:99:255,0,210 10 115392919 rs2270182 T A NON_SYNONYMOUS_CODING NRAP MODERATE|MISSENSE|aAt/aTt|N248I|852|NRAP|protein_coding|CODING|ENST00000369350|exon_10_115392843_115392947 0/1:99:255,0,255 . . 0/1:99:184,0,255 10 115392919 rs2270182 T A NON_SYNONYMOUS_CODING NRAP MODERATE|MISSENSE|aAt/aTt|N484I|1695|NRAP|protein_coding|CODING|ENST00000360478|exon_10_115392843_115392947 0/1:99:255,0,255 . . 0/1:99:184,0,255 10 115392919 rs2270182 T A NON_SYNONYMOUS_CODING NRAP MODERATE|MISSENSE|aAt/aTt|N484I|1703|NRAP|protein_coding|CODING|ENST00000369360|exon_10_115392843_115392947 0/1:99:255,0,255 . . 0/1:99:184,0,255 10 115392919 rs2270182 T A NON_SYNONYMOUS_CODING NRAP MODERATE|MISSENSE|aAt/aTt|N519I|1730|NRAP|protein_coding|CODING|ENST00000359988|exon_10_115392843_115392947 0/1:99:255,0,255 . . 0/1:99:184,0,255 10 115392919 rs2270182 T A NON_SYNONYMOUS_CODING NRAP MODERATE|MISSENSE|aAt/aTt|N519I|1738|NRAP|protein_coding|CODING|ENST00000369358|exon_10_115392843_115392947 0/1:99:255,0,255 . . 0/1:99:184,0,255 10 115393948 rs11196400 C T NON_SYNONYMOUS_CODING NRAP MODERATE|MISSENSE|Gac/Aac|D213N|852|NRAP|protein_coding|CODING|ENST00000369350|exon_10_115393871_115393969 0/1:99:211,0,255 . . . 10 115393948 rs11196400 C T NON_SYNONYMOUS_CODING NRAP MODERATE|MISSENSE|Gac/Aac|D449N|1695|NRAP|protein_coding|CODING|ENST00000360478|exon_10_115393871_115393969 0/1:99:211,0,255 . . . 10 115393948 rs11196400 C T NON_SYNONYMOUS_CODING NRAP MODERATE|MISSENSE|Gac/Aac|D449N|1703|NRAP|protein_coding|CODING|ENST00000369360|exon_10_115393871_115393969 0/1:99:211,0,255 . . . 10 115393948 rs11196400 C T NON_SYNONYMOUS_CODING NRAP MODERATE|MISSENSE|Gac/Aac|D484N|1730|NRAP|protein_coding|CODING|ENST00000359988|exon_10_115393871_115393969 0/1:99:211,0,255 . . . 10 115393948 rs11196400 C T NON_SYNONYMOUS_CODING NRAP MODERATE|MISSENSE|Gac/Aac|D484N|1738|NRAP|protein_coding|CODING|ENST00000369358|exon_10_115393871_115393969 0/1:99:211,0,255 . . . 10 115409840 rs2275799 C T NON_SYNONYMOUS_CODING NRAP MODERATE|MISSENSE|Gct/Act|A11T|852|NRAP|protein_coding|CODING|ENST00000369350|exon_10_115409796_115409881 0/1:99:255,0,137 . . 0/1:99:217,0,255 10 115409840 rs2275799 C T NON_SYNONYMOUS_CODING NRAP MODERATE|MISSENSE|Gct/Act|A282T|1695|NRAP|protein_coding|CODING|ENST00000360478|exon_10_115409796_115409900 0/1:99:255,0,137 . . 0/1:99:217,0,255 10 115409840 rs2275799 C T NON_SYNONYMOUS_CODING NRAP MODERATE|MISSENSE|Gct/Act|A282T|1703|NRAP|protein_coding|CODING|ENST00000369360|exon_10_115409796_115409900 0/1:99:255,0,137 . . 0/1:99:217,0,255 10 115409840 rs2275799 C T NON_SYNONYMOUS_CODING NRAP MODERATE|MISSENSE|Gct/Act|A282T|1730|NRAP|protein_coding|CODING|ENST00000359988|exon_10_115409796_115409900 0/1:99:255,0,137 . . 0/1:99:217,0,255 10 115409840 rs2275799 C T NON_SYNONYMOUS_CODING NRAP MODERATE|MISSENSE|Gct/Act|A282T|1738|NRAP|protein_coding|CODING|ENST00000369358|exon_10_115409796_115409900 0/1:99:255,0,137 . . 0/1:99:217,0,255 10 115486071 . G A NON_SYNONYMOUS_CODING CASP7 MODERATE|MISSENSE|Gag/Aag|E176K|253|CASP7|protein_coding|CODING|ENST00000369331|exon_10_115486064_115486193 0/1:99:236,0,230 . . . 10 115486071 . G A NON_SYNONYMOUS_CODING CASP7 MODERATE|MISSENSE|cGa/cAa|R148Q|264|CASP7|protein_coding|CODING|ENST00000442393|exon_10_115486064_115486193 0/1:99:236,0,230 . . . 10 115486071 . G A NON_SYNONYMOUS_CODING CASP7 MODERATE|MISSENSE|cGa/cAa|R162Q|278|CASP7|protein_coding|CODING|ENST00000452490|exon_10_115486064_115486193 0/1:99:236,0,230 . . . 10 115486071 . G A NON_SYNONYMOUS_CODING CASP7 MODERATE|MISSENSE|cGa/cAa|R187Q|221|CASP7|protein_coding|CODING|ENST00000429617|exon_10_115486064_115486178 0/1:99:236,0,230 . . . 10 115486071 . G A NON_SYNONYMOUS_CODING CASP7 MODERATE|MISSENSE|cGa/cAa|R187Q|303|CASP7|protein_coding|CODING|ENST00000345633|exon_10_115486064_115486193 0/1:99:236,0,230 . . . 10 115486071 . G A NON_SYNONYMOUS_CODING CASP7 MODERATE|MISSENSE|cGa/cAa|R187Q|303|CASP7|protein_coding|CODING|ENST00000369315|exon_10_115486064_115486193 0/1:99:236,0,230 . . . 10 115486071 . G A NON_SYNONYMOUS_CODING CASP7 MODERATE|MISSENSE|cGa/cAa|R187Q|303|CASP7|protein_coding|CODING|ENST00000369318|exon_10_115486064_115486193 0/1:99:236,0,230 . . . 10 115486071 . G A NON_SYNONYMOUS_CODING CASP7 MODERATE|MISSENSE|cGa/cAa|R220Q|336|CASP7|protein_coding|CODING|ENST00000369321|exon_10_115486064_115486193 0/1:99:236,0,230 . . . 10 116056981 rs45528437 G A NON_SYNONYMOUS_CODING AFAP1L2 MODERATE|MISSENSE|Cgc/Tgc|R769C|818|AFAP1L2|protein_coding|CODING|ENST00000304129|exon_10_116056979_116057172 . . 0/1:99:124,0,165 . 10 116056981 rs45528437 G A NON_SYNONYMOUS_CODING AFAP1L2 MODERATE|MISSENSE|Cgc/Tgc|R822C|871|AFAP1L2|protein_coding|CODING|ENST00000545353|exon_10_116056979_116057172 . . 0/1:99:124,0,165 . 10 116060427 rs2781806 G C NON_SYNONYMOUS_CODING AFAP1L2 MODERATE|MISSENSE|aCc/aGc|T522S|814|AFAP1L2|protein_coding|CODING|ENST00000369271|exon_10_116060204_116060449 . . . 0/1:99:255,0,220 10 116060427 rs2781806 G C NON_SYNONYMOUS_CODING AFAP1L2 MODERATE|MISSENSE|aCc/aGc|T522S|818|AFAP1L2|protein_coding|CODING|ENST00000304129|exon_10_116060204_116060449 . . . 0/1:99:255,0,220 10 116060427 rs2781806 G C NON_SYNONYMOUS_CODING AFAP1L2 MODERATE|MISSENSE|aCc/aGc|T549S|841|AFAP1L2|protein_coding|CODING|ENST00000392974|exon_10_116060204_116060449 . . . 0/1:99:255,0,220 10 116060427 rs2781806 G C NON_SYNONYMOUS_CODING AFAP1L2 MODERATE|MISSENSE|aCc/aGc|T575S|871|AFAP1L2|protein_coding|CODING|ENST00000545353|exon_10_116060204_116060449 . . . 0/1:99:255,0,220 10 116064528 rs73365341 G A NON_SYNONYMOUS_CODING AFAP1L2 MODERATE|MISSENSE|Ctc/Ttc|L412F|814|AFAP1L2|protein_coding|CODING|ENST00000369271|exon_10_116064478_116064689 . . . 0/1:69:154,0,66 10 116064528 rs73365341 G A NON_SYNONYMOUS_CODING AFAP1L2 MODERATE|MISSENSE|Ctc/Ttc|L412F|818|AFAP1L2|protein_coding|CODING|ENST00000304129|exon_10_116064478_116064689 . . . 0/1:69:154,0,66 10 116064528 rs73365341 G A NON_SYNONYMOUS_CODING AFAP1L2 MODERATE|MISSENSE|Ctc/Ttc|L439F|841|AFAP1L2|protein_coding|CODING|ENST00000392974|exon_10_116064478_116064689 . . . 0/1:69:154,0,66 10 116064528 rs73365341 G A NON_SYNONYMOUS_CODING AFAP1L2 MODERATE|MISSENSE|Ctc/Ttc|L465F|871|AFAP1L2|protein_coding|CODING|ENST00000545353|exon_10_116064478_116064689 . . . 0/1:69:154,0,66 10 117061544 rs115522651 A C NON_SYNONYMOUS_CODING ATRNL1 MODERATE|MISSENSE|Acc/Ccc|T34P|430|ATRNL1|protein_coding|CODING|ENST00000423111|exon_10_117061365_117061553 . 0/1:99:148,0,255 . . 10 117061544 rs115522651 A C NON_SYNONYMOUS_CODING ATRNL1 MODERATE|MISSENSE|Acc/Ccc|T937P|1379|ATRNL1|protein_coding|CODING|ENST00000355044|exon_10_117061365_117061553 . 0/1:99:148,0,255 . . 10 117849334 . C T NON_SYNONYMOUS_CODING GFRA1 MODERATE|MISSENSE|cGg/cAg|R251Q|344|GFRA1|protein_coding|CODING|ENST00000544592|exon_10_117849252_117849433 0/1:99:232,0,255 . . . 10 117849334 . C T NON_SYNONYMOUS_CODING GFRA1 MODERATE|MISSENSE|cGg/cAg|R367Q|459|GFRA1|protein_coding|CODING|ENST00000369234|exon_10_117849252_117849433 0/1:99:232,0,255 . . . 10 117849334 . C T NON_SYNONYMOUS_CODING GFRA1 MODERATE|MISSENSE|cGg/cAg|R367Q|460|GFRA1|protein_coding|CODING|ENST00000355422|exon_10_117849252_117849433 0/1:99:232,0,255 . . . 10 117849334 . C T NON_SYNONYMOUS_CODING GFRA1 MODERATE|MISSENSE|cGg/cAg|R367Q|460|GFRA1|protein_coding|CODING|ENST00000369236|exon_10_117849252_117849433 0/1:99:232,0,255 . . . 10 117849334 . C T NON_SYNONYMOUS_CODING GFRA1 MODERATE|MISSENSE|cGg/cAg|R372Q|465|GFRA1|protein_coding|CODING|ENST00000439649|exon_10_117849252_117849433 0/1:99:232,0,255 . . . 10 118187528 rs10885929 C T NON_SYNONYMOUS_CODING PNLIPRP3 MODERATE|MISSENSE|Ctt/Ttt|L2F|467|PNLIPRP3|protein_coding|CODING|ENST00000369230|exon_10_118187379_118187573 0/1:99:255,0,255 . . . 10 118957027 rs67346047 A G NON_SYNONYMOUS_CODING KCNK18 MODERATE|MISSENSE|Agg/Ggg|R10G|384|KCNK18|protein_coding|CODING|ENST00000334549|exon_10_118957000_118957222 0/1:99:118,0,252 . . 0/1:99:158,0,162 10 119043554 rs363294 C T NON_SYNONYMOUS_CODING PDZD8 MODERATE|MISSENSE|cGa/cAa|R897Q|1154|PDZD8|protein_coding|CODING|ENST00000334464|exon_10_119040000_119044982 . . . 0/1:99:255,0,255 10 119044242 rs144665491 G A NON_SYNONYMOUS_CODING PDZD8 MODERATE|MISSENSE|Cct/Tct|P668S|1154|PDZD8|protein_coding|CODING|ENST00000334464|exon_10_119040000_119044982 . . . 0/1:99:255,0,255 10 123842794 . C A NON_SYNONYMOUS_CODING TACC2 MODERATE|MISSENSE|aCa/aAa|T250K|2861|TACC2|protein_coding|CODING|ENST00000340076|exon_10_123842162_123847474 . . . 0/1:99:191,0,194 10 123842794 . C A NON_SYNONYMOUS_CODING TACC2 MODERATE|MISSENSE|aCa/aAa|T260K|2826|TACC2|protein_coding|CODING|ENST00000515603|exon_10_123842162_123847474 . . . 0/1:99:191,0,194 10 123842794 . C A NON_SYNONYMOUS_CODING TACC2 MODERATE|MISSENSE|aCa/aAa|T260K|2875|TACC2|protein_coding|CODING|ENST00000453444|exon_10_123842162_123847474 . . . 0/1:99:191,0,194 10 123842794 . C A NON_SYNONYMOUS_CODING TACC2 MODERATE|MISSENSE|aCa/aAa|T260K|2875|TACC2|protein_coding|CODING|ENST00000515273|exon_10_123842162_123847474 . . . 0/1:99:191,0,194 10 123842794 . C A NON_SYNONYMOUS_CODING TACC2 MODERATE|MISSENSE|aCa/aAa|T260K|2948|TACC2|protein_coding|CODING|ENST00000334433|exon_10_123842162_123847474 . . . 0/1:99:191,0,194 10 123842794 . C A NON_SYNONYMOUS_CODING TACC2 MODERATE|MISSENSE|aCa/aAa|T260K|2948|TACC2|protein_coding|CODING|ENST00000369005|exon_10_123842162_123847474 . . . 0/1:99:191,0,194 10 123845149 rs143377886 C T NON_SYNONYMOUS_CODING TACC2 MODERATE|MISSENSE|cCt/cTt|P1035L|2861|TACC2|protein_coding|CODING|ENST00000340076|exon_10_123842162_123847474 . . . 0/1:99:195,0,184 10 123845149 rs143377886 C T NON_SYNONYMOUS_CODING TACC2 MODERATE|MISSENSE|cCt/cTt|P1045L|2826|TACC2|protein_coding|CODING|ENST00000515603|exon_10_123842162_123847474 . . . 0/1:99:195,0,184 10 123845149 rs143377886 C T NON_SYNONYMOUS_CODING TACC2 MODERATE|MISSENSE|cCt/cTt|P1045L|2875|TACC2|protein_coding|CODING|ENST00000453444|exon_10_123842162_123847474 . . . 0/1:99:195,0,184 10 123845149 rs143377886 C T NON_SYNONYMOUS_CODING TACC2 MODERATE|MISSENSE|cCt/cTt|P1045L|2875|TACC2|protein_coding|CODING|ENST00000515273|exon_10_123842162_123847474 . . . 0/1:99:195,0,184 10 123845149 rs143377886 C T NON_SYNONYMOUS_CODING TACC2 MODERATE|MISSENSE|cCt/cTt|P1045L|2948|TACC2|protein_coding|CODING|ENST00000334433|exon_10_123842162_123847474 . . . 0/1:99:195,0,184 10 123845149 rs143377886 C T NON_SYNONYMOUS_CODING TACC2 MODERATE|MISSENSE|cCt/cTt|P1045L|2948|TACC2|protein_coding|CODING|ENST00000369005|exon_10_123842162_123847474 . . . 0/1:99:195,0,184 10 124214251 rs10490923 G A NON_SYNONYMOUS_CODING ARMS2 MODERATE|MISSENSE|cGc/cAc|R3H|107|ARMS2|protein_coding|CODING|ENST00000528446|exon_10_124214169_124214540 . 0/1:99:234,0,167 0/1:99:255,0,230 . 10 124358498 rs144489236 T G NON_SYNONYMOUS_CODING DMBT1 MODERATE|MISSENSE|atT/atG|I1045M|2403|DMBT1|protein_coding|CODING|ENST00000344338|exon_10_124358290_124358613 . 0/1:99:213,0,227 . . 10 124358498 rs144489236 T G NON_SYNONYMOUS_CODING DMBT1 MODERATE|MISSENSE|atT/atG|I1045M|2403|DMBT1|protein_coding|CODING|ENST00000368955|exon_10_124358290_124358613 . 0/1:99:213,0,227 . . 10 124358498 rs144489236 T G NON_SYNONYMOUS_CODING DMBT1 MODERATE|MISSENSE|atT/atG|I1055M|2412|DMBT1|protein_coding|CODING|ENST00000368942|exon_10_124358290_124358613 . 0/1:99:213,0,227 . . 10 124358498 rs144489236 T G NON_SYNONYMOUS_CODING DMBT1 MODERATE|MISSENSE|atT/atG|I1055M|2413|DMBT1|protein_coding|CODING|ENST00000338354|exon_10_124358290_124358613 . 0/1:99:213,0,227 . . 10 124358498 rs144489236 T G NON_SYNONYMOUS_CODING DMBT1 MODERATE|MISSENSE|atT/atG|I1055M|2413|DMBT1|protein_coding|CODING|ENST00000339871|exon_10_124358290_124358613 . 0/1:99:213,0,227 . . 10 124358498 rs144489236 T G NON_SYNONYMOUS_CODING DMBT1 MODERATE|MISSENSE|atT/atG|I1055M|2413|DMBT1|protein_coding|CODING|ENST00000341278|exon_10_124358290_124358613 . 0/1:99:213,0,227 . . 10 124358498 rs144489236 T G NON_SYNONYMOUS_CODING DMBT1 MODERATE|MISSENSE|atT/atG|I1055M|2413|DMBT1|protein_coding|CODING|ENST00000368909|exon_10_124358290_124358613 . 0/1:99:213,0,227 . . 10 124358498 rs144489236 T G NON_SYNONYMOUS_CODING DMBT1 MODERATE|MISSENSE|atT/atG|I1055M|2413|DMBT1|protein_coding|CODING|ENST00000368953|exon_10_124358290_124358613 . 0/1:99:213,0,227 . . 10 124358498 rs144489236 T G NON_SYNONYMOUS_CODING DMBT1 MODERATE|MISSENSE|atT/atG|I1055M|2542|DMBT1|protein_coding|CODING|ENST00000368915|exon_10_124358290_124358613 . 0/1:99:213,0,227 . . 10 124358498 rs144489236 T G NON_SYNONYMOUS_CODING DMBT1 MODERATE|MISSENSE|atT/atG|I556M|1785|DMBT1|protein_coding|CODING|ENST00000327438|exon_10_124358290_124358613 . 0/1:99:213,0,227 . . 10 124358498 rs144489236 T G NON_SYNONYMOUS_CODING DMBT1 MODERATE|MISSENSE|atT/atG|I556M|1785|DMBT1|protein_coding|CODING|ENST00000330163|exon_10_124358290_124358613 . 0/1:99:213,0,227 . . 10 124358498 rs144489236 T G NON_SYNONYMOUS_CODING DMBT1 MODERATE|MISSENSE|atT/atG|I556M|1785|DMBT1|protein_coding|CODING|ENST00000339712|exon_10_124358290_124358613 . 0/1:99:213,0,227 . . 10 124358498 rs144489236 T G NON_SYNONYMOUS_CODING DMBT1 MODERATE|MISSENSE|atT/atG|I556M|1785|DMBT1|protein_coding|CODING|ENST00000368956|exon_10_124358290_124358613 . 0/1:99:213,0,227 . . 10 124595830 rs36212072 A G NON_SYNONYMOUS_CODING CUZD1 MODERATE|MISSENSE|aTt/aCt|I285T|607|CUZD1|protein_coding|CODING|ENST00000368904|exon_10_124595694_124595866 . 0/1:99:221,0,255 . . 10 124595830 rs36212072 A G NON_SYNONYMOUS_CODING CUZD1 MODERATE|MISSENSE|aTt/aCt|I285T|607|CUZD1|protein_coding|CODING|ENST00000392790|exon_10_124595694_124595866 . 0/1:99:221,0,255 . . 10 124595830 rs36212072 A G NON_SYNONYMOUS_CODING CUZD1 MODERATE|MISSENSE|aTt/aCt|I285T|607|CUZD1|protein_coding|CODING|ENST00000545804|exon_10_124595694_124595866 . 0/1:99:221,0,255 . . 10 124595830 rs36212072 A G NON_SYNONYMOUS_CODING CUZD1 MODERATE|MISSENSE|aTt/aCt|I4T|326|CUZD1|protein_coding|CODING|ENST00000368899|exon_10_124595694_124595866 . 0/1:99:221,0,255 . . 10 124595830 rs36212072 A G NON_SYNONYMOUS_CODING CUZD1 MODERATE|MISSENSE|aTt/aCt|I4T|326|CUZD1|protein_coding|CODING|ENST00000368900|exon_10_124595694_124595866 . 0/1:99:221,0,255 . . 10 124595830 rs36212072 A G NON_SYNONYMOUS_CODING CUZD1 MODERATE|MISSENSE|aTt/aCt|I4T|326|CUZD1|protein_coding|CODING|ENST00000368901|exon_10_124595694_124595866 . 0/1:99:221,0,255 . . 10 125780647 rs78068995 A G NON_SYNONYMOUS_CODING CHST15 MODERATE|MISSENSE|aTg/aCg|M491T|506|CHST15|protein_coding|CODING|ENST00000421115|exon_10_125780598_125780928 . . . 0/1:99:232,0,176 10 125805631 rs34639461 G A NON_SYNONYMOUS_CODING CHST15 MODERATE|MISSENSE|gCg/gTg|A33V|207|CHST15|protein_coding|CODING|ENST00000434607|exon_10_125805183_125806240 . . . 0/1:99:178,0,255 10 125805631 rs34639461 G A NON_SYNONYMOUS_CODING CHST15 MODERATE|MISSENSE|gCg/gTg|A33V|482|CHST15|protein_coding|CODING|ENST00000546346|exon_10_125805183_125806240 . . . 0/1:99:178,0,255 10 125805631 rs34639461 G A NON_SYNONYMOUS_CODING CHST15 MODERATE|MISSENSE|gCg/gTg|A33V|506|CHST15|protein_coding|CODING|ENST00000421115|exon_10_125805183_125806240 . . . 0/1:99:178,0,255 10 125805631 rs34639461 G A NON_SYNONYMOUS_CODING CHST15 MODERATE|MISSENSE|gCg/gTg|A33V|561|CHST15|protein_coding|CODING|ENST00000346248|exon_10_125805183_125806240 . . . 0/1:99:178,0,255 10 125805631 rs34639461 G A NON_SYNONYMOUS_CODING CHST15 MODERATE|MISSENSE|gCg/gTg|A33V|561|CHST15|protein_coding|CODING|ENST00000435907|exon_10_125805183_125806241 . . . 0/1:99:178,0,255 10 126480381 rs144443222 C T NON_SYNONYMOUS_CODING METTL10 MODERATE|MISSENSE|Ggc/Agc|G8S|191|METTL10|protein_coding|CODING|ENST00000358960|exon_10_126480293_126480439 0/1:99:213,0,158 0/1:99:194,0,244 0/1:99:247,0,170 0/1:99:175,0,167 10 126480381 rs144443222 C T NON_SYNONYMOUS_CODING METTL10 MODERATE|MISSENSE|Ggc/Agc|G8S|291|METTL10|protein_coding|CODING|ENST00000368836|exon_10_126480293_126480439 0/1:99:213,0,158 0/1:99:194,0,244 0/1:99:247,0,170 0/1:99:175,0,167 10 126715692 rs3781408 C T NON_SYNONYMOUS_CODING CTBP2 MODERATE|MISSENSE|Gac/Aac|D213N|985|CTBP2|protein_coding|CODING|ENST00000309035|exon_10_126714651_126716459 0/1:99:240,0,175 . . . 10 127496038 rs117926090 T A NON_SYNONYMOUS_CODING UROS MODERATE|MISSENSE|gAt/gTt|D113V|133|UROS|protein_coding|CODING|ENST00000368774|exon_10_127495719_127496056 . . . 0/1:99:255,0,255 10 127496038 rs117926090 T A NON_SYNONYMOUS_CODING UROS MODERATE|MISSENSE|gAt/gTt|D113V|139|UROS|protein_coding|CODING|ENST00000368778|exon_10_127495982_127496056 . . . 0/1:99:255,0,255 10 127496038 rs117926090 T A NON_SYNONYMOUS_CODING UROS MODERATE|MISSENSE|gAt/gTt|D113V|265|UROS|protein_coding|CODING|ENST00000368786|exon_10_127495982_127496056 . . . 0/1:99:255,0,255 10 127496038 rs117926090 T A NON_SYNONYMOUS_CODING UROS MODERATE|MISSENSE|gAt/gTt|D113V|265|UROS|protein_coding|CODING|ENST00000368797|exon_10_127495982_127496056 . . . 0/1:99:255,0,255 10 127496038 rs117926090 T A NON_SYNONYMOUS_CODING UROS MODERATE|MISSENSE|gAt/gTt|D85V|184|UROS|protein_coding|CODING|ENST00000420761|exon_10_127495982_127496056 . . . 0/1:99:255,0,255 10 127693479 rs41302923 A G NON_SYNONYMOUS_CODING FANK1 MODERATE|MISSENSE|cAc/cGc|H167R|282|FANK1|protein_coding|CODING|ENST00000368691|exon_10_127693453_127693618 . . 0/1:99:255,0,191 . 10 127693479 rs41302923 A G NON_SYNONYMOUS_CODING FANK1 MODERATE|MISSENSE|cAc/cGc|H183R|339|FANK1|protein_coding|CODING|ENST00000368695|exon_10_127693453_127693618 . . 0/1:99:255,0,191 . 10 127693479 rs41302923 A G NON_SYNONYMOUS_CODING FANK1 MODERATE|MISSENSE|cAc/cGc|H189R|345|FANK1|protein_coding|CODING|ENST00000368693|exon_10_127693453_127693618 . . 0/1:99:255,0,191 . 10 127693479 rs41302923 A G NON_SYNONYMOUS_CODING FANK1 MODERATE|MISSENSE|cAc/cGc|H215R|371|FANK1|protein_coding|CODING|ENST00000368692|exon_10_127693453_127693618 . . 0/1:99:255,0,191 . 10 128147738 rs139123090 G A NON_SYNONYMOUS_CODING C10orf90 MODERATE|MISSENSE|Cgg/Tgg|R493W|602|C10orf90|protein_coding|CODING|ENST00000454341|exon_10_128147609_128147786 . . 0/1:99:255,0,255 . 10 128147738 rs139123090 G A NON_SYNONYMOUS_CODING C10orf90 MODERATE|MISSENSE|Cgg/Tgg|R543W|652|C10orf90|protein_coding|CODING|ENST00000356858|exon_10_128147609_128147786 . . 0/1:99:255,0,255 . 10 128147738 rs139123090 G A NON_SYNONYMOUS_CODING C10orf90 MODERATE|MISSENSE|Cgg/Tgg|R590W|661|C10orf90|protein_coding|CODING|ENST00000432642|exon_10_128147609_128147786 . . 0/1:99:255,0,255 . 10 128147738 rs139123090 G A NON_SYNONYMOUS_CODING C10orf90 MODERATE|MISSENSE|Cgg/Tgg|R590W|699|C10orf90|protein_coding|CODING|ENST00000284694|exon_10_128147609_128147786 . . 0/1:99:255,0,255 . 10 128147738 rs139123090 G A NON_SYNONYMOUS_CODING C10orf90 MODERATE|MISSENSE|Cgg/Tgg|R687W|796|C10orf90|protein_coding|CODING|ENST00000544758|exon_10_128147609_128147786 . . 0/1:99:255,0,255 . 10 128193368 rs11245008 C T NON_SYNONYMOUS_CODING C10orf90 MODERATE|MISSENSE|cGc/cAc|R134H|602|C10orf90|protein_coding|CODING|ENST00000454341|exon_10_128192526_128193654 . . . 0/1:93:90,0,255 10 128193368 rs11245008 C T NON_SYNONYMOUS_CODING C10orf90 MODERATE|MISSENSE|cGc/cAc|R134H|661|C10orf90|protein_coding|CODING|ENST00000432642|exon_10_128192526_128193654 . . . 0/1:93:90,0,255 10 128193368 rs11245008 C T NON_SYNONYMOUS_CODING C10orf90 MODERATE|MISSENSE|cGc/cAc|R134H|699|C10orf90|protein_coding|CODING|ENST00000284694|exon_10_128192526_128193654 . . . 0/1:93:90,0,255 10 128193368 rs11245008 C T NON_SYNONYMOUS_CODING C10orf90 MODERATE|MISSENSE|cGc/cAc|R231H|796|C10orf90|protein_coding|CODING|ENST00000544758|exon_10_128192526_128193654 . . . 0/1:93:90,0,255 10 128193368 rs11245008 C T NON_SYNONYMOUS_CODING C10orf90 MODERATE|MISSENSE|cGc/cAc|R87H|383|C10orf90|protein_coding|CODING|ENST00000368674|exon_10_128192526_128193654 . . . 0/1:93:90,0,255 10 128193368 rs11245008 C T NON_SYNONYMOUS_CODING C10orf90 MODERATE|MISSENSE|cGc/cAc|R87H|383|C10orf90|protein_coding|CODING|ENST00000392694|exon_10_128192526_128193654 . . . 0/1:93:90,0,255 10 128193368 rs11245008 C T NON_SYNONYMOUS_CODING C10orf90 MODERATE|MISSENSE|cGc/cAc|R87H|652|C10orf90|protein_coding|CODING|ENST00000356858|exon_10_128192526_128193654 . . . 0/1:93:90,0,255 10 128974220 rs11594560 G A NON_SYNONYMOUS_CODING FAM196A MODERATE|MISSENSE|gCg/gTg|A147V|455|FAM196A|protein_coding|CODING|ENST00000424811|exon_10_128973476_128974664 0/1:99:255,0,238 1/1:99:255,96,0 . . 10 128974220 rs11594560 G A NON_SYNONYMOUS_CODING FAM196A MODERATE|MISSENSE|gCg/gTg|A147V|479|FAM196A|protein_coding|CODING|ENST00000522781|exon_10_128973476_128974664 0/1:99:255,0,238 1/1:99:255,96,0 . . 10 129347785 rs990310 C T NON_SYNONYMOUS_CODING NPS MODERATE|MISSENSE|tCg/tTg|S14L|89|NPS|protein_coding|CODING|ENST00000398023|exon_10_129347753_129347834 0/1:99:255,0,255 . . . 10 129690826 rs35070529 A T NON_SYNONYMOUS_CODING CLRN3 MODERATE|MISSENSE|Ttt/Att|F75I|226|CLRN3|protein_coding|CODING|ENST00000368671|exon_10_129690820_129691211 . 0/1:99:255,0,255 0/1:99:208,0,255 . 10 129883377 rs7898794 C A NON_SYNONYMOUS_CODING PTPRE MODERATE|MISSENSE|tCc/tAc|S659Y|669|PTPRE|protein_coding|CODING|ENST00000439034|exon_10_129883337_129883508 . 0/1:99:191,0,255 . . 10 129899778 rs11106 G C NON_SYNONYMOUS_CODING MKI67 MODERATE|MISSENSE|aCt/aGt|T2790S|2896|MKI67|protein_coding|CODING|ENST00000368653|exon_10_129899522_129899965 0/1:99:255,0,255 0/1:99:255,0,255 0/1:99:255,0,255 . 10 129899778 rs11106 G C NON_SYNONYMOUS_CODING MKI67 MODERATE|MISSENSE|aCt/aGt|T3149S|3255|MKI67|protein_coding|CODING|ENST00000537609|exon_10_129899522_129899965 0/1:99:255,0,255 0/1:99:255,0,255 0/1:99:255,0,255 . 10 129899778 rs11106 G C NON_SYNONYMOUS_CODING MKI67 MODERATE|MISSENSE|aCt/aGt|T3150S|3256|MKI67|protein_coding|CODING|ENST00000368654|exon_10_129899522_129899965 0/1:99:255,0,255 0/1:99:255,0,255 0/1:99:255,0,255 . 10 129901501 rs2071496 G C NON_SYNONYMOUS_CODING MKI67 MODERATE|MISSENSE|aCc/aGc|T2508S|2896|MKI67|protein_coding|CODING|ENST00000368653|exon_10_129900843_129907687 0/1:99:255,0,242 0/1:99:199,0,255 0/1:99:252,0,195 . 10 129901501 rs2071496 G C NON_SYNONYMOUS_CODING MKI67 MODERATE|MISSENSE|aCc/aGc|T2867S|3255|MKI67|protein_coding|CODING|ENST00000537609|exon_10_129900843_129907687 0/1:99:255,0,242 0/1:99:199,0,255 0/1:99:252,0,195 . 10 129901501 rs2071496 G C NON_SYNONYMOUS_CODING MKI67 MODERATE|MISSENSE|aCc/aGc|T2868S|3256|MKI67|protein_coding|CODING|ENST00000368654|exon_10_129900843_129907687 0/1:99:255,0,242 0/1:99:199,0,255 0/1:99:252,0,195 . 10 129901747 rs10764749 C T NON_SYNONYMOUS_CODING MKI67 MODERATE|MISSENSE|cGg/cAg|R2426Q|2896|MKI67|protein_coding|CODING|ENST00000368653|exon_10_129900843_129907687 0/1:99:218,0,116 0/1:99:124,0,233 0/1:99:218,0,159 . 10 129901747 rs10764749 C T NON_SYNONYMOUS_CODING MKI67 MODERATE|MISSENSE|cGg/cAg|R2785Q|3255|MKI67|protein_coding|CODING|ENST00000537609|exon_10_129900843_129907687 0/1:99:218,0,116 0/1:99:124,0,233 0/1:99:218,0,159 . 10 129901747 rs10764749 C T NON_SYNONYMOUS_CODING MKI67 MODERATE|MISSENSE|cGg/cAg|R2786Q|3256|MKI67|protein_coding|CODING|ENST00000368654|exon_10_129900843_129907687 0/1:99:218,0,116 0/1:99:124,0,233 0/1:99:218,0,159 . 10 129901762 rs75701205 G A NON_SYNONYMOUS_CODING MKI67 MODERATE|MISSENSE|aCt/aTt|T2421I|2896|MKI67|protein_coding|CODING|ENST00000368653|exon_10_129900843_129907687 . 0/1:99:145,0,255 . . 10 129901762 rs75701205 G A NON_SYNONYMOUS_CODING MKI67 MODERATE|MISSENSE|aCt/aTt|T2780I|3255|MKI67|protein_coding|CODING|ENST00000537609|exon_10_129900843_129907687 . 0/1:99:145,0,255 . . 10 129901762 rs75701205 G A NON_SYNONYMOUS_CODING MKI67 MODERATE|MISSENSE|aCt/aTt|T2781I|3256|MKI67|protein_coding|CODING|ENST00000368654|exon_10_129900843_129907687 . 0/1:99:145,0,255 . . 10 129905239 rs2782871 G A NON_SYNONYMOUS_CODING MKI67 MODERATE|MISSENSE|cCa/cTa|P1262L|2896|MKI67|protein_coding|CODING|ENST00000368653|exon_10_129900843_129907687 . . 0/1:99:230,0,255 . 10 129905239 rs2782871 G A NON_SYNONYMOUS_CODING MKI67 MODERATE|MISSENSE|cCa/cTa|P1621L|3255|MKI67|protein_coding|CODING|ENST00000537609|exon_10_129900843_129907687 . . 0/1:99:230,0,255 . 10 129905239 rs2782871 G A NON_SYNONYMOUS_CODING MKI67 MODERATE|MISSENSE|cCa/cTa|P1622L|3256|MKI67|protein_coding|CODING|ENST00000368654|exon_10_129900843_129907687 . . 0/1:99:230,0,255 . 10 129905896 rs3740423 T A NON_SYNONYMOUS_CODING MKI67 MODERATE|MISSENSE|gAg/gTg|E1043V|2896|MKI67|protein_coding|CODING|ENST00000368653|exon_10_129900843_129907687 0/1:99:196,0,255 . 0/1:99:242,0,239 . 10 129905896 rs3740423 T A NON_SYNONYMOUS_CODING MKI67 MODERATE|MISSENSE|gAg/gTg|E1402V|3255|MKI67|protein_coding|CODING|ENST00000537609|exon_10_129900843_129907687 0/1:99:196,0,255 . 0/1:99:242,0,239 . 10 129905896 rs3740423 T A NON_SYNONYMOUS_CODING MKI67 MODERATE|MISSENSE|gAg/gTg|E1403V|3256|MKI67|protein_coding|CODING|ENST00000368654|exon_10_129900843_129907687 0/1:99:196,0,255 . 0/1:99:242,0,239 . 10 129906980 rs2152143 C T NON_SYNONYMOUS_CODING MKI67 MODERATE|MISSENSE|Ggc/Agc|G1041S|3255|MKI67|protein_coding|CODING|ENST00000537609|exon_10_129900843_129907687 0/1:99:255,0,196 0/1:99:255,0,255 0/1:99:202,0,255 . 10 129906980 rs2152143 C T NON_SYNONYMOUS_CODING MKI67 MODERATE|MISSENSE|Ggc/Agc|G1042S|3256|MKI67|protein_coding|CODING|ENST00000368654|exon_10_129900843_129907687 0/1:99:255,0,196 0/1:99:255,0,255 0/1:99:202,0,255 . 10 129906980 rs2152143 C T NON_SYNONYMOUS_CODING MKI67 MODERATE|MISSENSE|Ggc/Agc|G682S|2896|MKI67|protein_coding|CODING|ENST00000368653|exon_10_129900843_129907687 0/1:99:255,0,196 0/1:99:255,0,255 0/1:99:202,0,255 . 10 131565064 rs2308321 A G NON_SYNONYMOUS_CODING MGMT MODERATE|MISSENSE|Atc/Gtc|I174V|238|MGMT|protein_coding|CODING|ENST00000306010|exon_10_131565052_131566271 . 0/1:99:213,0,255 . 0/1:99:188,0,195 10 131565170 rs2308327 A G NON_SYNONYMOUS_CODING MGMT MODERATE|MISSENSE|aAg/aGg|K209R|238|MGMT|protein_coding|CODING|ENST00000306010|exon_10_131565052_131566271 . 0/1:99:211,0,134 . 0/1:99:227,0,122 10 131934747 rs13991 G C NON_SYNONYMOUS_CODING GLRX3 MODERATE|MISSENSE|caG/caC|Q21H|335|GLRX3|protein_coding|CODING|ENST00000331244|exon_10_131934663_131934776 0/1:99:139,0,144 . . . 10 131934747 rs13991 G C NON_SYNONYMOUS_CODING GLRX3 MODERATE|MISSENSE|caG/caC|Q21H|335|GLRX3|protein_coding|CODING|ENST00000368644|exon_10_131934663_131934776 0/1:99:139,0,144 . . . 10 133608287 rs189073666 G T NON_SYNONYMOUS_CODING AL450307.1 MODERATE|MISSENSE|cCa/cAa|P30Q|158|AL450307.1|protein_coding|CODING|ENST00000341866|exon_10_133607220_133608631 . . . 0/1:99:137,0,135 10 133787327 . C T NON_SYNONYMOUS_CODING BNIP3 MODERATE|MISSENSE|cGg/cAg|R56Q|180|BNIP3|protein_coding|CODING|ENST00000540159|exon_10_133787297_133787447 . 0/1:99:255,0,188 . . 10 133787327 . C T NON_SYNONYMOUS_CODING BNIP3 MODERATE|MISSENSE|cGg/cAg|R56Q|194|BNIP3|protein_coding|CODING|ENST00000368636|exon_10_133787297_133787447 . 0/1:99:255,0,188 . . 10 134145153 rs7100410 G A NON_SYNONYMOUS_CODING STK32C MODERATE|MISSENSE|Cac/Tac|H30Y|499|STK32C|protein_coding|CODING|ENST00000368625|exon_10_134144940_134145326 . . . 1/1:27:70,15,0 10 134145153 rs7100410 G A NON_SYNONYMOUS_CODING STK32C MODERATE|MISSENSE|Cac/Tac|H67Y|275|STK32C|protein_coding|CODING|ENST00000368620|exon_10_134144940_134145351 . . . 1/1:27:70,15,0 10 134218287 rs199872085 G A NON_SYNONYMOUS_CODING PWWP2B MODERATE|MISSENSE|Gag/Aag|E95K|499|PWWP2B|protein_coding|CODING|ENST00000368609|exon_10_134218130_134219490 . . 0/1:40:86,0,37 . 10 134218287 rs199872085 G A NON_SYNONYMOUS_CODING PWWP2B MODERATE|MISSENSE|Gag/Aag|E95K|590|PWWP2B|protein_coding|CODING|ENST00000305233|exon_10_134218130_134219793 . . 0/1:40:86,0,37 . 10 134671094 rs73391289 G C NON_SYNONYMOUS_CODING TTC40 MODERATE|MISSENSE|gaC/gaG|D1858E|2715|TTC40|protein_coding|CODING|ENST00000368586|exon_10_134671094_134671292 . . 0/1:99:243,0,193 . 10 134671094 rs73391289 G C NON_SYNONYMOUS_CODING TTC40 MODERATE|MISSENSE|gaC/gaG|D19E|876|TTC40|protein_coding|CODING|ENST00000263170|exon_10_134671094_134671236 . . 0/1:99:243,0,193 . 10 134691434 rs142539335 T C NON_SYNONYMOUS_CODING TTC40 MODERATE|MISSENSE|gAg/gGg|E1388G|1530|TTC40|protein_coding|CODING|ENST00000368582|exon_10_134691385_134691591 . 0/1:99:238,0,254 . . 10 134691434 rs142539335 T C NON_SYNONYMOUS_CODING TTC40 MODERATE|MISSENSE|gAg/gGg|E1388G|2715|TTC40|protein_coding|CODING|ENST00000368586|exon_10_134691385_134691591 . 0/1:99:238,0,254 . . 10 134713049 . C T NON_SYNONYMOUS_CODING TTC40 MODERATE|MISSENSE|Gag/Aag|E1016K|1530|TTC40|protein_coding|CODING|ENST00000368582|exon_10_134713039_134713170 . . 0/1:99:255,0,224 . 10 134713049 . C T NON_SYNONYMOUS_CODING TTC40 MODERATE|MISSENSE|Gag/Aag|E1016K|2715|TTC40|protein_coding|CODING|ENST00000368586|exon_10_134713039_134713170 . . 0/1:99:255,0,224 . 10 134748281 rs74460040 G A NON_SYNONYMOUS_CODING TTC40 MODERATE|MISSENSE|Cgc/Tgc|R281C|1530|TTC40|protein_coding|CODING|ENST00000368582|exon_10_134748256_134748366 . . 1/1:99:255,138,0 . 10 134748281 rs74460040 G A NON_SYNONYMOUS_CODING TTC40 MODERATE|MISSENSE|Cgc/Tgc|R281C|2715|TTC40|protein_coding|CODING|ENST00000368586|exon_10_134748256_134748366 . . 1/1:99:255,138,0 . 10 134748281 rs74460040 G A NON_SYNONYMOUS_CODING TTC40 MODERATE|MISSENSE|Cgc/Tgc|R281C|405|TTC40|protein_coding|CODING|ENST00000368585|exon_10_134748256_134748366 . . 1/1:99:255,138,0 . 10 135010568 rs35152544 G A NON_SYNONYMOUS_CODING KNDC1 MODERATE|MISSENSE|Ggc/Agc|G516S|1141|KNDC1|protein_coding|CODING|ENST00000368571|exon_10_135010562_135010639 . . 0/1:99:132,0,214 . 10 135010568 rs35152544 G A NON_SYNONYMOUS_CODING KNDC1 MODERATE|MISSENSE|Ggc/Agc|G581S|1749|KNDC1|protein_coding|CODING|ENST00000304613|exon_10_135010562_135010639 . . 0/1:99:132,0,214 . 10 135010568 rs35152544 G A NON_SYNONYMOUS_CODING KNDC1 MODERATE|MISSENSE|Ggc/Agc|G581S|1751|KNDC1|protein_coding|CODING|ENST00000368572|exon_10_135010562_135010639 . . 0/1:99:132,0,214 . 10 135025208 rs41283313 A G NON_SYNONYMOUS_CODING KNDC1 MODERATE|MISSENSE|aAg/aGg|K1361R|1749|KNDC1|protein_coding|CODING|ENST00000304613|exon_10_135025183_135025362 . . . 0/1:99:144,0,190 10 135025208 rs41283313 A G NON_SYNONYMOUS_CODING KNDC1 MODERATE|MISSENSE|aAg/aGg|K1363R|1751|KNDC1|protein_coding|CODING|ENST00000368572|exon_10_135025183_135025362 . . . 0/1:99:144,0,190 10 135051543 rs2240892 T C NON_SYNONYMOUS_CODING VENTX MODERATE|MISSENSE|cTg/cCg|L42P|258|VENTX|protein_coding|CODING|ENST00000325980|exon_10_135051175_135051659 0/1:99:176,0,178 . . 0/1:99:113,0,163 10 135086766 rs45451297 G A NON_SYNONYMOUS_CODING ADAM8 MODERATE|MISSENSE|Cgg/Tgg|R150W|733|ADAM8|protein_coding|CODING|ENST00000485491|exon_10_135086758_135086934 0/1:36:181,0,33 . . . 10 135086766 rs45451297 G A NON_SYNONYMOUS_CODING ADAM8 MODERATE|MISSENSE|Cgg/Tgg|R189W|742|ADAM8|protein_coding|CODING|ENST00000415217|exon_10_135086758_135086947 0/1:36:181,0,33 . . . 10 135086766 rs45451297 G A NON_SYNONYMOUS_CODING ADAM8 MODERATE|MISSENSE|Cgg/Tgg|R189W|824|ADAM8|protein_coding|CODING|ENST00000445355|exon_10_135086758_135086947 0/1:36:181,0,33 . . . 10 135269765 . C T NON_SYNONYMOUS_CODING RP11-108K14.4.1 MODERATE|MISSENSE|gCg/gTg|A31V|1027|RP11-108K14.4.1|protein_coding|CODING|ENST00000333815|exon_10_135269741_135270058 . . . 0/1:99:219,0,140 10 135345675 rs6413419 G A NON_SYNONYMOUS_CODING CYP2E1 MODERATE|MISSENSE|Gtc/Atc|V179I|493|CYP2E1|protein_coding|CODING|ENST00000252945|exon_10_135345628_135345788 . . 0/1:99:215,0,255 . 10 135345675 rs6413419 G A NON_SYNONYMOUS_CODING CYP2E1 MODERATE|MISSENSE|Gtc/Atc|V179I|493|CYP2E1|protein_coding|CODING|ENST00000463117|exon_10_135345628_135345788 . . 0/1:99:215,0,255 . 10 135345675 rs6413419 G A NON_SYNONYMOUS_CODING CYP2E1 MODERATE|MISSENSE|Gtc/Atc|V42I|305|CYP2E1|protein_coding|CODING|ENST00000418356|exon_10_135345628_135345788 . . 0/1:99:215,0,255 . 10 135345675 rs6413419 G A NON_SYNONYMOUS_CODING CYP2E1 MODERATE|MISSENSE|Gtc/Atc|V92I|355|CYP2E1|protein_coding|CODING|ENST00000421586|exon_10_135345628_135345788 . . 0/1:99:215,0,255 . 10 135440203 rs200661929 A T NON_SYNONYMOUS_CODING FRG2B MODERATE|MISSENSE|aTc/aAc|I15N|278|FRG2B|protein_coding|CODING|ENST00000425520|exon_10_135440069_135440299 0/1:82:79,0,160 . . . 10 135440203 rs200661929 A T NON_SYNONYMOUS_CODING FRG2B MODERATE|MISSENSE|aTc/aAc|I15N|279|FRG2B|protein_coding|CODING|ENST00000443774|exon_10_135440069_135440296 0/1:82:79,0,160 . . . 10 135440214 rs144521881 G C NON_SYNONYMOUS_CODING FRG2B MODERATE|MISSENSE|caC/caG|H11Q|278|FRG2B|protein_coding|CODING|ENST00000425520|exon_10_135440069_135440299 . 0/1:99:97,0,175 . . 10 135440214 rs144521881 G C NON_SYNONYMOUS_CODING FRG2B MODERATE|MISSENSE|caC/caG|H11Q|279|FRG2B|protein_coding|CODING|ENST00000443774|exon_10_135440069_135440296 . 0/1:99:97,0,175 . . 10 135440216 rs151005651 G A NON_SYNONYMOUS_CODING FRG2B MODERATE|MISSENSE|Cac/Tac|H11Y|278|FRG2B|protein_coding|CODING|ENST00000425520|exon_10_135440069_135440299 . 0/1:99:100,0,183 . . 10 135440216 rs151005651 G A NON_SYNONYMOUS_CODING FRG2B MODERATE|MISSENSE|Cac/Tac|H11Y|279|FRG2B|protein_coding|CODING|ENST00000443774|exon_10_135440069_135440296 . 0/1:99:100,0,183 . . 11 193146 rs61736219 G A NON_SYNONYMOUS_CODING SCGB1C1 MODERATE|MISSENSE|tGc/tAc|C16Y|95|SCGB1C1|protein_coding|CODING|ENST00000342878|exon_11_193080_193154 0/1:99:146,0,255 . . . 11 193797 rs199816295 G C NON_SYNONYMOUS_CODING SCGB1C1 MODERATE|MISSENSE|gaG/gaC|E47D|95|SCGB1C1|protein_coding|CODING|ENST00000342878|exon_11_193712_193911 . . . 0/1:99:145,0,255 11 244141 rs7128029 G A NON_SYNONYMOUS_CODING PSMD13 MODERATE|MISSENSE|Gct/Act|A66T|378|PSMD13|protein_coding|CODING|ENST00000431206|exon_11_244041_244216 . . . 1/1:15:53,9,0 11 490035 rs61742833 C T NON_SYNONYMOUS_CODING PTDSS2 MODERATE|MISSENSE|gCg/gTg|A423V|487|PTDSS2|protein_coding|CODING|ENST00000308020|exon_11_489883_490068 . 1/1:99:255,75,0 . . 11 499120 rs17585 G A NON_SYNONYMOUS_CODING RNH1 MODERATE|MISSENSE|cCg/cTg|P170L|188|RNH1|protein_coding|CODING|ENST00000529306|exon_11_499062_499185 . . 0/1:99:240,0,117 . 11 499120 rs17585 G A NON_SYNONYMOUS_CODING RNH1 MODERATE|MISSENSE|cCg/cTg|P170L|193|RNH1|protein_coding|CODING|ENST00000529368|exon_11_499047_499185 . . 0/1:99:240,0,117 . 11 499120 rs17585 G A NON_SYNONYMOUS_CODING RNH1 MODERATE|MISSENSE|cCg/cTg|P170L|198|RNH1|protein_coding|CODING|ENST00000527485|exon_11_499031_499185 . . 0/1:99:240,0,117 . 11 499120 rs17585 G A NON_SYNONYMOUS_CODING RNH1 MODERATE|MISSENSE|cCg/cTg|P170L|461|RNH1|protein_coding|CODING|ENST00000354420|exon_11_499015_499185 . . 0/1:99:240,0,117 . 11 499120 rs17585 G A NON_SYNONYMOUS_CODING RNH1 MODERATE|MISSENSE|cCg/cTg|P170L|461|RNH1|protein_coding|CODING|ENST00000356187|exon_11_499015_499185 . . 0/1:99:240,0,117 . 11 499120 rs17585 G A NON_SYNONYMOUS_CODING RNH1 MODERATE|MISSENSE|cCg/cTg|P170L|461|RNH1|protein_coding|CODING|ENST00000397604|exon_11_499015_499185 . . 0/1:99:240,0,117 . 11 499120 rs17585 G A NON_SYNONYMOUS_CODING RNH1 MODERATE|MISSENSE|cCg/cTg|P170L|461|RNH1|protein_coding|CODING|ENST00000397614|exon_11_499015_499185 . . 0/1:99:240,0,117 . 11 499120 rs17585 G A NON_SYNONYMOUS_CODING RNH1 MODERATE|MISSENSE|cCg/cTg|P170L|461|RNH1|protein_coding|CODING|ENST00000397615|exon_11_499015_499185 . . 0/1:99:240,0,117 . 11 499120 rs17585 G A NON_SYNONYMOUS_CODING RNH1 MODERATE|MISSENSE|cCg/cTg|P170L|461|RNH1|protein_coding|CODING|ENST00000438658|exon_11_499015_499185 . . 0/1:99:240,0,117 . 11 499120 rs17585 G A NON_SYNONYMOUS_CODING RNH1 MODERATE|MISSENSE|cCg/cTg|P170L|461|RNH1|protein_coding|CODING|ENST00000533410|exon_11_499015_499185 . . 0/1:99:240,0,117 . 11 499120 rs17585 G A NON_SYNONYMOUS_CODING RNH1 MODERATE|MISSENSE|cCg/cTg|P170L|461|RNH1|protein_coding|CODING|ENST00000534797|exon_11_499015_499185 . . 0/1:99:240,0,117 . 11 502129 . ACTGGATGTCCAGGCTCTGGATGTCCAGGCTC ACTGGATGTCCAGGCTC CODON_DELETION RNH1 MODERATE||atgagcctggacatccag/atg|MSLDIQ1M|180|RNH1|protein_coding|CODING|ENST00000531149|exon_11_502062_502181 . 1/1:93:246,48,0 . . 11 502129 . ACTGGATGTCCAGGCTCTGGATGTCCAGGCTC ACTGGATGTCCAGGCTC CODON_DELETION RNH1 MODERATE||atgagcctggacatccag/atg|MSLDIQ1M|188|RNH1|protein_coding|CODING|ENST00000529306|exon_11_502062_502249 . 1/1:93:246,48,0 . . 11 502129 . ACTGGATGTCCAGGCTCTGGATGTCCAGGCTC ACTGGATGTCCAGGCTC CODON_DELETION RNH1 MODERATE||atgagcctggacatccag/atg|MSLDIQ1M|193|RNH1|protein_coding|CODING|ENST00000529368|exon_11_502062_502181 . 1/1:93:246,48,0 . . 11 502129 . ACTGGATGTCCAGGCTCTGGATGTCCAGGCTC ACTGGATGTCCAGGCTC CODON_DELETION RNH1 MODERATE||atgagcctggacatccag/atg|MSLDIQ1M|198|RNH1|protein_coding|CODING|ENST00000527485|exon_11_502062_502249 . 1/1:93:246,48,0 . . 11 502129 . ACTGGATGTCCAGGCTCTGGATGTCCAGGCTC ACTGGATGTCCAGGCTC CODON_DELETION RNH1 MODERATE||atgagcctggacatccag/atg|MSLDIQ1M|39|RNH1|protein_coding|CODING|ENST00000532055|exon_11_502062_502249 . 1/1:93:246,48,0 . . 11 502129 . ACTGGATGTCCAGGCTCTGGATGTCCAGGCTC ACTGGATGTCCAGGCTC CODON_DELETION RNH1 MODERATE||atgagcctggacatccag/atg|MSLDIQ1M|461|RNH1|protein_coding|CODING|ENST00000354420|exon_11_502062_502249 . 1/1:93:246,48,0 . . 11 502129 . ACTGGATGTCCAGGCTCTGGATGTCCAGGCTC ACTGGATGTCCAGGCTC CODON_DELETION RNH1 MODERATE||atgagcctggacatccag/atg|MSLDIQ1M|461|RNH1|protein_coding|CODING|ENST00000356187|exon_11_502062_502249 . 1/1:93:246,48,0 . . 11 502129 . ACTGGATGTCCAGGCTCTGGATGTCCAGGCTC ACTGGATGTCCAGGCTC CODON_DELETION RNH1 MODERATE||atgagcctggacatccag/atg|MSLDIQ1M|461|RNH1|protein_coding|CODING|ENST00000397604|exon_11_502062_502181 . 1/1:93:246,48,0 . . 11 502129 . ACTGGATGTCCAGGCTCTGGATGTCCAGGCTC ACTGGATGTCCAGGCTC CODON_DELETION RNH1 MODERATE||atgagcctggacatccag/atg|MSLDIQ1M|461|RNH1|protein_coding|CODING|ENST00000397614|exon_11_502062_502249 . 1/1:93:246,48,0 . . 11 502129 . ACTGGATGTCCAGGCTCTGGATGTCCAGGCTC ACTGGATGTCCAGGCTC CODON_DELETION RNH1 MODERATE||atgagcctggacatccag/atg|MSLDIQ1M|461|RNH1|protein_coding|CODING|ENST00000397615|exon_11_502062_502249 . 1/1:93:246,48,0 . . 11 502129 . ACTGGATGTCCAGGCTCTGGATGTCCAGGCTC ACTGGATGTCCAGGCTC CODON_DELETION RNH1 MODERATE||atgagcctggacatccag/atg|MSLDIQ1M|461|RNH1|protein_coding|CODING|ENST00000438658|exon_11_502062_502181 . 1/1:93:246,48,0 . . 11 502129 . ACTGGATGTCCAGGCTCTGGATGTCCAGGCTC ACTGGATGTCCAGGCTC CODON_DELETION RNH1 MODERATE||atgagcctggacatccag/atg|MSLDIQ1M|461|RNH1|protein_coding|CODING|ENST00000533410|exon_11_502062_502181 . 1/1:93:246,48,0 . . 11 502129 . ACTGGATGTCCAGGCTCTGGATGTCCAGGCTC ACTGGATGTCCAGGCTC CODON_DELETION RNH1 MODERATE||atgagcctggacatccag/atg|MSLDIQ1M|461|RNH1|protein_coding|CODING|ENST00000534797|exon_11_502062_503570 . 1/1:93:246,48,0 . . 11 502129 . ACTGGATGTCCAGGCTCTGGATGTCCAGGCTC ACTGGATGTCCAGGCTC CODON_DELETION RNH1 MODERATE||atgagcctggacatccag/atg|MSLDIQ1M|7|RNH1|protein_coding|CODING|ENST00000531540|exon_11_502137_502181 . 1/1:93:246,48,0 . . 11 617571 rs144034443 G A NON_SYNONYMOUS_CODING CDHR5 MODERATE|MISSENSE|gCg/gTg|A579V|651|CDHR5|protein_coding|CODING|ENST00000349570|exon_11_617256_617770 . . . 0/1:99:119,0,131 11 617571 rs144034443 G A NON_SYNONYMOUS_CODING CDHR5 MODERATE|MISSENSE|gCg/gTg|A773V|845|CDHR5|protein_coding|CODING|ENST00000358353|exon_11_616577_617770 . . . 0/1:99:119,0,131 11 617571 rs144034443 G A NON_SYNONYMOUS_CODING CDHR5 MODERATE|MISSENSE|gCg/gTg|A773V|845|CDHR5|protein_coding|CODING|ENST00000397542|exon_11_616565_617770 . . . 0/1:99:119,0,131 11 654656 . C A NON_SYNONYMOUS_CODING DEAF1 MODERATE|MISSENSE|Gtg/Ttg|V413L|490|DEAF1|protein_coding|CODING|ENST00000338675|exon_11_654615_654656 . . . 0/1:99:137,0,212 11 709567 rs12283031 G A NON_SYNONYMOUS_CODING EPS8L2 MODERATE|MISSENSE|cGg/cAg|R20Q|104|EPS8L2|protein_coding|CODING|ENST00000524763|exon_11_709553_709608 . . 1/1:99:255,54,0 . 11 709567 rs12283031 G A NON_SYNONYMOUS_CODING EPS8L2 MODERATE|MISSENSE|cGg/cAg|R20Q|24|EPS8L2|protein_coding|CODING|ENST00000527199|exon_11_709553_709584 . . 1/1:99:255,54,0 . 11 709567 rs12283031 G A NON_SYNONYMOUS_CODING EPS8L2 MODERATE|MISSENSE|cGg/cAg|R20Q|715|EPS8L2|protein_coding|CODING|ENST00000318562|exon_11_709553_709608 . . 1/1:99:255,54,0 . 11 709567 rs12283031 G A NON_SYNONYMOUS_CODING EPS8L2 MODERATE|MISSENSE|cGg/cAg|R20Q|715|EPS8L2|protein_coding|CODING|ENST00000530636|exon_11_709553_709608 . . 1/1:99:255,54,0 . 11 709567 rs12283031 G A NON_SYNONYMOUS_CODING EPS8L2 MODERATE|MISSENSE|cGg/cAg|R20Q|715|EPS8L2|protein_coding|CODING|ENST00000533256|exon_11_709553_709608 . . 1/1:99:255,54,0 . 11 709567 rs12283031 G A NON_SYNONYMOUS_CODING EPS8L2 MODERATE|MISSENSE|cGg/cAg|R20Q|731|EPS8L2|protein_coding|CODING|ENST00000526198|exon_11_709553_709608 . . 1/1:99:255,54,0 . 11 709567 rs12283031 G A NON_SYNONYMOUS_CODING EPS8L2 MODERATE|MISSENSE|cGg/cAg|R20Q|78|EPS8L2|protein_coding|CODING|ENST00000534755|exon_11_709553_709608 . . 1/1:99:255,54,0 . 11 709567 rs12283031 G A NON_SYNONYMOUS_CODING EPS8L2 MODERATE|MISSENSE|cGg/cAg|R20Q|82|EPS8L2|protein_coding|CODING|ENST00000533500|exon_11_709553_709608 . . 1/1:99:255,54,0 . 11 709567 rs12283031 G A NON_SYNONYMOUS_CODING EPS8L2 MODERATE|MISSENSE|cGg/cAg|R20Q|94|EPS8L2|protein_coding|CODING|ENST00000531348|exon_11_709553_709608 . . 1/1:99:255,54,0 . 11 723311 rs60889456 C T NON_SYNONYMOUS_CODING EPS8L2 MODERATE|MISSENSE|cCg/cTg|P471L|715|EPS8L2|protein_coding|CODING|ENST00000318562|exon_11_723241_723353 . . 0/1:99:143,0,149 . 11 723311 rs60889456 C T NON_SYNONYMOUS_CODING EPS8L2 MODERATE|MISSENSE|cCg/cTg|P471L|715|EPS8L2|protein_coding|CODING|ENST00000530636|exon_11_723241_723353 . . 0/1:99:143,0,149 . 11 723311 rs60889456 C T NON_SYNONYMOUS_CODING EPS8L2 MODERATE|MISSENSE|cCg/cTg|P471L|715|EPS8L2|protein_coding|CODING|ENST00000533256|exon_11_723241_723353 . . 0/1:99:143,0,149 . 11 723311 rs60889456 C T NON_SYNONYMOUS_CODING EPS8L2 MODERATE|MISSENSE|cCg/cTg|P487L|731|EPS8L2|protein_coding|CODING|ENST00000526198|exon_11_723241_723353 . . 0/1:99:143,0,149 . 11 792692 rs111277421 G C NON_SYNONYMOUS_CODING SLC25A22 MODERATE|MISSENSE|Ctc/Gtc|L146V|195|SLC25A22|protein_coding|CODING|ENST00000531437|exon_11_792553_792727 . . . 0/1:80:77,0,132 11 792692 rs111277421 G C NON_SYNONYMOUS_CODING SLC25A22 MODERATE|MISSENSE|Ctc/Gtc|L150V|323|SLC25A22|protein_coding|CODING|ENST00000320230|exon_11_792553_792727 . . . 0/1:80:77,0,132 11 792692 rs111277421 G C NON_SYNONYMOUS_CODING SLC25A22 MODERATE|MISSENSE|Ctc/Gtc|L150V|323|SLC25A22|protein_coding|CODING|ENST00000531214|exon_11_792553_792727 . . . 0/1:80:77,0,132 11 792692 rs111277421 G C NON_SYNONYMOUS_CODING SLC25A22 MODERATE|MISSENSE|Ctc/Gtc|L175V|258|SLC25A22|protein_coding|CODING|ENST00000481290|exon_11_792553_792727 . . . 0/1:80:77,0,132 11 1017277 rs111373859 A G NON_SYNONYMOUS_CODING MUC6 MODERATE|MISSENSE|Tct/Cct|S1842P|2439|MUC6|protein_coding|CODING|ENST00000421673|exon_11_1015762_1018770 . . 0/1:99:157,0,255 . 11 1017384 rs34095361 G C NON_SYNONYMOUS_CODING MUC6 MODERATE|MISSENSE|aCc/aGc|T1806S|2439|MUC6|protein_coding|CODING|ENST00000421673|exon_11_1015762_1018770 0/1:60:57,0,255 . . . 11 1017596 rs201522029 T G NON_SYNONYMOUS_CODING MUC6 MODERATE|MISSENSE|caA/caC|Q1735H|2439|MUC6|protein_coding|CODING|ENST00000421673|exon_11_1015762_1018770 0/1:99:128,0,255 . . . 11 1017858 rs79583615 A G NON_SYNONYMOUS_CODING MUC6 MODERATE|MISSENSE|aTg/aCg|M1648T|2439|MUC6|protein_coding|CODING|ENST00000421673|exon_11_1015762_1018770 . . 0/1:65:62,0,255 . 11 1018295 rs73403297 T C NON_SYNONYMOUS_CODING MUC6 MODERATE|MISSENSE|atA/atG|I1502M|2439|MUC6|protein_coding|CODING|ENST00000421673|exon_11_1015762_1018770 . . . 0/1:61:58,0,255 11 1018456 rs79920422 G A NON_SYNONYMOUS_CODING MUC6 MODERATE|MISSENSE|Cct/Tct|P1449S|2439|MUC6|protein_coding|CODING|ENST00000421673|exon_11_1015762_1018770 . 0/1:64:61,0,255 . 0/1:97:94,0,255 11 1080880 . CACAAC CAC CODON_DELETION MUC2 MODERATE||aac/-|N423-|1779|MUC2|protein_coding|CODING|ENST00000359061|exon_11_1080874_1080984 . 0/1:99:255,0,255 . . 11 1080880 . CACAAC CAC CODON_DELETION MUC2 MODERATE||aac/-|N423-|2817|MUC2|protein_coding|CODING|ENST00000441003|exon_11_1080874_1080984 . 0/1:99:255,0,255 . . 11 1093054 . C G NON_SYNONYMOUS_CODING MUC2 MODERATE|MISSENSE|Cag/Gag|Q1625E|2817|MUC2|protein_coding|CODING|ENST00000441003|exon_11_1092080_1093933 . . . 0/1:99:98,0,255 11 1093412 rs113330607 C T NON_SYNONYMOUS_CODING MUC2 MODERATE|MISSENSE|aCg/aTg|T1711M|1779|MUC2|protein_coding|CODING|ENST00000359061|exon_11_1093057_1093482 0/1:99:128,0,239 . . . 11 1093412 rs113330607 C T NON_SYNONYMOUS_CODING MUC2 MODERATE|MISSENSE|aCg/aTg|T1744M|2817|MUC2|protein_coding|CODING|ENST00000441003|exon_11_1092080_1093933 0/1:99:128,0,239 . . . 11 1093412 rs113330607 C T NON_SYNONYMOUS_CODING MUC2 MODERATE|MISSENSE|aCg/aTg|T32M|277|MUC2|protein_coding|CODING|ENST00000333592|exon_11_1093318_1093933 0/1:99:128,0,239 . . . 11 1093631 rs56282171 G C NON_SYNONYMOUS_CODING MUC2 MODERATE|MISSENSE|aGc/aCc|S105T|277|MUC2|protein_coding|CODING|ENST00000333592|exon_11_1093318_1093933 . . 0/1:99:158,0,173 . 11 1093631 rs56282171 G C NON_SYNONYMOUS_CODING MUC2 MODERATE|MISSENSE|aGc/aCc|S1773T|1779|MUC2|protein_coding|CODING|ENST00000359061|exon_11_1093516_1093653 . . 0/1:99:158,0,173 . 11 1093631 rs56282171 G C NON_SYNONYMOUS_CODING MUC2 MODERATE|MISSENSE|aGc/aCc|S1817T|2817|MUC2|protein_coding|CODING|ENST00000441003|exon_11_1092080_1093933 . . 0/1:99:158,0,173 . 11 1263757 rs78692183 A G NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|Agc/Ggc|S1883G|5762|MUC5B|protein_coding|CODING|ENST00000529681|exon_11_1262081_1272973 . . . 0/1:99:217,0,221 11 1263757 rs78692183 A G NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|Agc/Ggc|S1884G|5706|MUC5B|protein_coding|CODING|ENST00000349637|exon_11_1262081_1265487 . . . 0/1:99:217,0,221 11 1263757 rs78692183 A G NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|Agc/Ggc|S1886G|5765|MUC5B|protein_coding|CODING|ENST00000447027|exon_11_1262081_1272973 . . . 0/1:99:217,0,221 11 1263757 rs78692183 A G NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|Agc/Ggc|S1953G|5527|MUC5B|protein_coding|CODING|ENST00000406844|exon_11_1262081_1264492 . . . 0/1:99:217,0,221 11 1263932 rs183657141 C G NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|aCc/aGc|T1941S|5762|MUC5B|protein_coding|CODING|ENST00000529681|exon_11_1262081_1272973 . . . 0/1:99:127,0,225 11 1263932 rs183657141 C G NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|aCc/aGc|T1942S|5706|MUC5B|protein_coding|CODING|ENST00000349637|exon_11_1262081_1265487 . . . 0/1:99:127,0,225 11 1263932 rs183657141 C G NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|aCc/aGc|T1944S|5765|MUC5B|protein_coding|CODING|ENST00000447027|exon_11_1262081_1272973 . . . 0/1:99:127,0,225 11 1263932 rs183657141 C G NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|aCc/aGc|T2011S|5527|MUC5B|protein_coding|CODING|ENST00000406844|exon_11_1262081_1264492 . . . 0/1:99:127,0,225 11 1264022 rs199959506 C T NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|aCa/aTa|T1971I|5762|MUC5B|protein_coding|CODING|ENST00000529681|exon_11_1262081_1272973 . . . 0/1:85:82,0,210 11 1264022 rs199959506 C T NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|aCa/aTa|T1972I|5706|MUC5B|protein_coding|CODING|ENST00000349637|exon_11_1262081_1265487 . . . 0/1:85:82,0,210 11 1264022 rs199959506 C T NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|aCa/aTa|T1974I|5765|MUC5B|protein_coding|CODING|ENST00000447027|exon_11_1262081_1272973 . . . 0/1:85:82,0,210 11 1264022 rs199959506 C T NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|aCa/aTa|T2041I|5527|MUC5B|protein_coding|CODING|ENST00000406844|exon_11_1262081_1264492 . . . 0/1:85:82,0,210 11 1264183 rs146229325 G A NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|Gcc/Acc|A2025T|5762|MUC5B|protein_coding|CODING|ENST00000529681|exon_11_1262081_1272973 . . . 1/1:5:173,2,0 11 1264183 rs146229325 G A NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|Gcc/Acc|A2026T|5706|MUC5B|protein_coding|CODING|ENST00000349637|exon_11_1262081_1265487 . . . 1/1:5:173,2,0 11 1264183 rs146229325 G A NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|Gcc/Acc|A2028T|5765|MUC5B|protein_coding|CODING|ENST00000447027|exon_11_1262081_1272973 . . . 1/1:5:173,2,0 11 1264183 rs146229325 G A NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|Gcc/Acc|A2095T|5527|MUC5B|protein_coding|CODING|ENST00000406844|exon_11_1262081_1264492 . . . 1/1:5:173,2,0 11 1264292 rs61997210 C G NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|gCc/gGc|A2061G|5762|MUC5B|protein_coding|CODING|ENST00000529681|exon_11_1262081_1272973 0/1:99:147,0,167 . . . 11 1264292 rs61997210 C G NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|gCc/gGc|A2062G|5706|MUC5B|protein_coding|CODING|ENST00000349637|exon_11_1262081_1265487 0/1:99:147,0,167 . . . 11 1264292 rs61997210 C G NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|gCc/gGc|A2064G|5765|MUC5B|protein_coding|CODING|ENST00000447027|exon_11_1262081_1272973 0/1:99:147,0,167 . . . 11 1264292 rs61997210 C G NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|gCc/gGc|A2131G|5527|MUC5B|protein_coding|CODING|ENST00000406844|exon_11_1262081_1264492 0/1:99:147,0,167 . . . 11 1265422 rs199749553 G A NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|Gag/Aag|E2438K|5762|MUC5B|protein_coding|CODING|ENST00000529681|exon_11_1262081_1272973 . 0/1:99:156,0,110 . . 11 1265422 rs199749553 G A NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|Gag/Aag|E2439K|5706|MUC5B|protein_coding|CODING|ENST00000349637|exon_11_1262081_1265487 . 0/1:99:156,0,110 . . 11 1265422 rs199749553 G A NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|Gag/Aag|E2441K|5765|MUC5B|protein_coding|CODING|ENST00000447027|exon_11_1262081_1272973 . 0/1:99:156,0,110 . . 11 1265422 rs199749553 G A NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|Gag/Aag|E2453K|5527|MUC5B|protein_coding|CODING|ENST00000406844|exon_11_1264658_1266163 . 0/1:99:156,0,110 . . 11 1265450 rs201530286 A C NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|gAg/gCg|E2447A|5762|MUC5B|protein_coding|CODING|ENST00000529681|exon_11_1262081_1272973 . . . 0/1:65:62,0,81 11 1265450 rs201530286 A C NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|gAg/gCg|E2448A|5706|MUC5B|protein_coding|CODING|ENST00000349637|exon_11_1262081_1265487 . . . 0/1:65:62,0,81 11 1265450 rs201530286 A C NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|gAg/gCg|E2450A|5765|MUC5B|protein_coding|CODING|ENST00000447027|exon_11_1262081_1272973 . . . 0/1:65:62,0,81 11 1265450 rs201530286 A C NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|gAg/gCg|E2462A|5527|MUC5B|protein_coding|CODING|ENST00000406844|exon_11_1264658_1266163 . . . 0/1:65:62,0,81 11 1265939 rs117736426 C G NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|aCt/aGt|T2582S|5706|MUC5B|protein_coding|CODING|ENST00000349637|exon_11_1265575_1269261 . . . 0/1:99:101,0,255 11 1265939 rs117736426 C G NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|aCt/aGt|T2610S|5762|MUC5B|protein_coding|CODING|ENST00000529681|exon_11_1262081_1272973 . . . 0/1:99:101,0,255 11 1265939 rs117736426 C G NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|aCt/aGt|T2613S|5765|MUC5B|protein_coding|CODING|ENST00000447027|exon_11_1262081_1272973 . . . 0/1:99:101,0,255 11 1265939 rs117736426 C G NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|aCt/aGt|T2625S|5527|MUC5B|protein_coding|CODING|ENST00000406844|exon_11_1264658_1266163 . . . 0/1:99:101,0,255 11 1265939 rs117736426 C G NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|gaC/gaG|D152E|185|MUC5B|protein_coding|CODING|ENST00000537836|exon_11_1265871_1265951 . . . 0/1:99:101,0,255 11 1266599 rs139960671 C T NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|cCg/cTg|P2790L|5527|MUC5B|protein_coding|CODING|ENST00000406844|exon_11_1266329_1268263 . 1/1:12:132,7,0 . . 11 1266599 rs139960671 C T NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|cCg/cTg|P2802L|5706|MUC5B|protein_coding|CODING|ENST00000349637|exon_11_1265575_1269261 . 1/1:12:132,7,0 . . 11 1266599 rs139960671 C T NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|cCg/cTg|P2830L|5762|MUC5B|protein_coding|CODING|ENST00000529681|exon_11_1262081_1272973 . 1/1:12:132,7,0 . . 11 1266599 rs139960671 C T NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|cCg/cTg|P2833L|5765|MUC5B|protein_coding|CODING|ENST00000447027|exon_11_1262081_1272973 . 1/1:12:132,7,0 . . 11 1267010 rs200811033 A G NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|aAc/aGc|N2927S|5527|MUC5B|protein_coding|CODING|ENST00000406844|exon_11_1266329_1268263 . . . 0/1:80:77,0,193 11 1267010 rs200811033 A G NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|aAc/aGc|N2939S|5706|MUC5B|protein_coding|CODING|ENST00000349637|exon_11_1265575_1269261 . . . 0/1:80:77,0,193 11 1267010 rs200811033 A G NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|aAc/aGc|N2967S|5762|MUC5B|protein_coding|CODING|ENST00000529681|exon_11_1262081_1272973 . . . 0/1:80:77,0,193 11 1267010 rs200811033 A G NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|aAc/aGc|N2970S|5765|MUC5B|protein_coding|CODING|ENST00000447027|exon_11_1262081_1272973 . . . 0/1:80:77,0,193 11 1267120 rs116870693 G A NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|Gca/Aca|A2964T|5527|MUC5B|protein_coding|CODING|ENST00000406844|exon_11_1266329_1268263 . . . 0/1:45:165,0,42 11 1267120 rs116870693 G A NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|Gca/Aca|A2976T|5706|MUC5B|protein_coding|CODING|ENST00000349637|exon_11_1265575_1269261 . . . 0/1:45:165,0,42 11 1267120 rs116870693 G A NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|Gca/Aca|A3004T|5762|MUC5B|protein_coding|CODING|ENST00000529681|exon_11_1262081_1272973 . . . 0/1:45:165,0,42 11 1267120 rs116870693 G A NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|Gca/Aca|A3007T|5765|MUC5B|protein_coding|CODING|ENST00000447027|exon_11_1262081_1272973 . . . 0/1:45:165,0,42 11 1267291 rs189329205 T C NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|Tcc/Ccc|S3021P|5527|MUC5B|protein_coding|CODING|ENST00000406844|exon_11_1266329_1268263 . . . 0/1:61:58,0,155 11 1267291 rs189329205 T C NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|Tcc/Ccc|S3033P|5706|MUC5B|protein_coding|CODING|ENST00000349637|exon_11_1265575_1269261 . . . 0/1:61:58,0,155 11 1267291 rs189329205 T C NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|Tcc/Ccc|S3061P|5762|MUC5B|protein_coding|CODING|ENST00000529681|exon_11_1262081_1272973 . . . 0/1:61:58,0,155 11 1267291 rs189329205 T C NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|Tcc/Ccc|S3064P|5765|MUC5B|protein_coding|CODING|ENST00000447027|exon_11_1262081_1272973 . . . 0/1:61:58,0,155 11 1267372 rs60867894 A G NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|Atg/Gtg|M3048V|5527|MUC5B|protein_coding|CODING|ENST00000406844|exon_11_1266329_1268263 . . . 0/1:76:73,0,140 11 1267372 rs60867894 A G NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|Atg/Gtg|M3060V|5706|MUC5B|protein_coding|CODING|ENST00000349637|exon_11_1265575_1269261 . . . 0/1:76:73,0,140 11 1267372 rs60867894 A G NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|Atg/Gtg|M3088V|5762|MUC5B|protein_coding|CODING|ENST00000529681|exon_11_1262081_1272973 . . . 0/1:76:73,0,140 11 1267372 rs60867894 A G NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|Atg/Gtg|M3091V|5765|MUC5B|protein_coding|CODING|ENST00000447027|exon_11_1262081_1272973 . . . 0/1:76:73,0,140 11 1267954 . A G NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|Acc/Gcc|T167A|318|MUC5B|protein_coding|CODING|ENST00000538459|exon_11_1267849_1267980 . 0/1:74:115,0,71 . . 11 1267954 . A G NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|Acc/Gcc|T3242A|5527|MUC5B|protein_coding|CODING|ENST00000406844|exon_11_1266329_1268263 . 0/1:74:115,0,71 . . 11 1267954 . A G NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|Acc/Gcc|T3254A|5706|MUC5B|protein_coding|CODING|ENST00000349637|exon_11_1265575_1269261 . 0/1:74:115,0,71 . . 11 1267954 . A G NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|Acc/Gcc|T3282A|5762|MUC5B|protein_coding|CODING|ENST00000529681|exon_11_1262081_1272973 . 0/1:74:115,0,71 . . 11 1267954 . A G NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|Acc/Gcc|T3285A|5765|MUC5B|protein_coding|CODING|ENST00000447027|exon_11_1262081_1272973 . 0/1:74:115,0,71 . . 11 1268185 rs200708304 G C NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|Gcc/Ccc|A240P|318|MUC5B|protein_coding|CODING|ENST00000538459|exon_11_1268173_1268214 . . 0/1:99:110,0,99 . 11 1268185 rs200708304 G C NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|Gcc/Ccc|A3319P|5527|MUC5B|protein_coding|CODING|ENST00000406844|exon_11_1266329_1268263 . . 0/1:99:110,0,99 . 11 1268185 rs200708304 G C NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|Gcc/Ccc|A3331P|5706|MUC5B|protein_coding|CODING|ENST00000349637|exon_11_1265575_1269261 . . 0/1:99:110,0,99 . 11 1268185 rs200708304 G C NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|Gcc/Ccc|A3359P|5762|MUC5B|protein_coding|CODING|ENST00000529681|exon_11_1262081_1272973 . . 0/1:99:110,0,99 . 11 1268185 rs200708304 G C NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|Gcc/Ccc|A3362P|5765|MUC5B|protein_coding|CODING|ENST00000447027|exon_11_1262081_1272973 . . 0/1:99:110,0,99 . 11 1269215 rs79239311 C T NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|aCg/aTg|T3607M|5527|MUC5B|protein_coding|CODING|ENST00000406844|exon_11_1268429_1269934 . . . 1/1:21:139,12,0 11 1269215 rs79239311 C T NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|aCg/aTg|T3674M|5706|MUC5B|protein_coding|CODING|ENST00000349637|exon_11_1265575_1269261 . . . 1/1:21:139,12,0 11 1269215 rs79239311 C T NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|aCg/aTg|T3702M|5762|MUC5B|protein_coding|CODING|ENST00000529681|exon_11_1262081_1272973 . . . 1/1:21:139,12,0 11 1269215 rs79239311 C T NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|aCg/aTg|T3705M|5765|MUC5B|protein_coding|CODING|ENST00000447027|exon_11_1262081_1272973 . . . 1/1:21:139,12,0 11 1269770 rs184424771 C T NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|cCt/cTt|P3792L|5527|MUC5B|protein_coding|CODING|ENST00000406844|exon_11_1268429_1269934 . . . 0/1:67:64,0,175 11 1269770 rs184424771 C T NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|cCt/cTt|P3831L|5706|MUC5B|protein_coding|CODING|ENST00000349637|exon_11_1269346_1272973 . . . 0/1:67:64,0,175 11 1269770 rs184424771 C T NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|cCt/cTt|P3887L|5762|MUC5B|protein_coding|CODING|ENST00000529681|exon_11_1262081_1272973 . . . 0/1:67:64,0,175 11 1269770 rs184424771 C T NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|cCt/cTt|P3890L|5765|MUC5B|protein_coding|CODING|ENST00000447027|exon_11_1262081_1272973 . . . 0/1:67:64,0,175 11 1269856 rs201019065 C G NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|Ccc/Gcc|P3821A|5527|MUC5B|protein_coding|CODING|ENST00000406844|exon_11_1268429_1269934 . . . 0/1:57:54,0,202 11 1269856 rs201019065 C G NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|Ccc/Gcc|P3860A|5706|MUC5B|protein_coding|CODING|ENST00000349637|exon_11_1269346_1272973 . . . 0/1:57:54,0,202 11 1269856 rs201019065 C G NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|Ccc/Gcc|P3916A|5762|MUC5B|protein_coding|CODING|ENST00000529681|exon_11_1262081_1272973 . . . 0/1:57:54,0,202 11 1269856 rs201019065 C G NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|Ccc/Gcc|P3919A|5765|MUC5B|protein_coding|CODING|ENST00000447027|exon_11_1262081_1272973 . . . 0/1:57:54,0,202 11 1270322 rs200317067 C G NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|cCt/cGt|P3921R|5527|MUC5B|protein_coding|CODING|ENST00000406844|exon_11_1270100_1271958 . . . 0/1:99:113,0,112 11 1270322 rs200317067 C G NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|cCt/cGt|P4015R|5706|MUC5B|protein_coding|CODING|ENST00000349637|exon_11_1269346_1272973 . . . 0/1:99:113,0,112 11 1270322 rs200317067 C G NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|cCt/cGt|P4071R|5762|MUC5B|protein_coding|CODING|ENST00000529681|exon_11_1262081_1272973 . . . 0/1:99:113,0,112 11 1270322 rs200317067 C G NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|cCt/cGt|P4074R|5765|MUC5B|protein_coding|CODING|ENST00000447027|exon_11_1262081_1272973 . . . 0/1:99:113,0,112 11 1272601 rs187205469 G A NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|Gcc/Acc|A4530T|5527|MUC5B|protein_coding|CODING|ENST00000406844|exon_11_1272412_1272973 . . . 0/1:89:86,0,209 11 1272601 rs187205469 G A NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|Gcc/Acc|A4775T|5706|MUC5B|protein_coding|CODING|ENST00000349637|exon_11_1269346_1272973 . . . 0/1:89:86,0,209 11 1272601 rs187205469 G A NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|Gcc/Acc|A4831T|5762|MUC5B|protein_coding|CODING|ENST00000529681|exon_11_1262081_1272973 . . . 0/1:89:86,0,209 11 1272601 rs187205469 G A NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|Gcc/Acc|A4834T|5765|MUC5B|protein_coding|CODING|ENST00000447027|exon_11_1262081_1272973 . . . 0/1:89:86,0,209 11 1275988 rs56232219 T C NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|cTg/cCg|L4893P|5527|MUC5B|protein_coding|CODING|ENST00000406844|exon_11_1275924_1276110 . . . 0/1:99:191,0,158 11 1275988 rs56232219 T C NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|cTg/cCg|L5125P|5706|MUC5B|protein_coding|CODING|ENST00000349637|exon_11_1275924_1276110 . . . 0/1:99:191,0,158 11 1275988 rs56232219 T C NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|cTg/cCg|L5181P|5762|MUC5B|protein_coding|CODING|ENST00000529681|exon_11_1275924_1276110 . . . 0/1:99:191,0,158 11 1275988 rs56232219 T C NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|cTg/cCg|L5184P|5765|MUC5B|protein_coding|CODING|ENST00000447027|exon_11_1275924_1276110 . . . 0/1:99:191,0,158 11 1275988 rs56232219 T C NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|cTg/cCg|L80P|668|MUC5B|protein_coding|CODING|ENST00000546052|exon_11_1275924_1276110 . . . 0/1:99:191,0,158 11 1276423 rs56123928 G C NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|Gca/Cca|A172P|668|MUC5B|protein_coding|CODING|ENST00000546052|exon_11_1276271_1276496 . . . 0/1:59:56,0,80 11 1276423 rs56123928 G C NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|Gca/Cca|A4985P|5527|MUC5B|protein_coding|CODING|ENST00000406844|exon_11_1276271_1276496 . . . 0/1:59:56,0,80 11 1276423 rs56123928 G C NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|Gca/Cca|A5217P|5706|MUC5B|protein_coding|CODING|ENST00000349637|exon_11_1276271_1276496 . . . 0/1:59:56,0,80 11 1276423 rs56123928 G C NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|Gca/Cca|A5273P|5762|MUC5B|protein_coding|CODING|ENST00000529681|exon_11_1276271_1276496 . . . 0/1:59:56,0,80 11 1276423 rs56123928 G C NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|Gca/Cca|A5276P|5765|MUC5B|protein_coding|CODING|ENST00000447027|exon_11_1276271_1276496 . . . 0/1:59:56,0,80 11 1278796 rs55657020 G A NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|Gtg/Atg|V335M|668|MUC5B|protein_coding|CODING|ENST00000546052|exon_11_1278760_1278940 . . . 0/1:99:178,0,154 11 1278796 rs55657020 G A NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|Gtg/Atg|V5148M|5527|MUC5B|protein_coding|CODING|ENST00000406844|exon_11_1278760_1278940 . . . 0/1:99:178,0,154 11 1278796 rs55657020 G A NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|Gtg/Atg|V5380M|5706|MUC5B|protein_coding|CODING|ENST00000349637|exon_11_1278760_1278940 . . . 0/1:99:178,0,154 11 1278796 rs55657020 G A NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|Gtg/Atg|V5436M|5762|MUC5B|protein_coding|CODING|ENST00000529681|exon_11_1278760_1278940 . . . 0/1:99:178,0,154 11 1278796 rs55657020 G A NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|Gtg/Atg|V5439M|5765|MUC5B|protein_coding|CODING|ENST00000447027|exon_11_1278760_1278940 . . . 0/1:99:178,0,154 11 1278912 rs56220864 G C NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|gaG/gaC|E19D|152|MUC5B|protein_coding|CODING|ENST00000526859|exon_11_1278856_1278940 . . . 0/1:99:107,0,178 11 1278912 rs56220864 G C NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|gaG/gaC|E373D|668|MUC5B|protein_coding|CODING|ENST00000546052|exon_11_1278760_1278940 . . . 0/1:99:107,0,178 11 1278912 rs56220864 G C NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|gaG/gaC|E5186D|5527|MUC5B|protein_coding|CODING|ENST00000406844|exon_11_1278760_1278940 . . . 0/1:99:107,0,178 11 1278912 rs56220864 G C NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|gaG/gaC|E5418D|5706|MUC5B|protein_coding|CODING|ENST00000349637|exon_11_1278760_1278940 . . . 0/1:99:107,0,178 11 1278912 rs56220864 G C NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|gaG/gaC|E5474D|5762|MUC5B|protein_coding|CODING|ENST00000529681|exon_11_1278760_1278940 . . . 0/1:99:107,0,178 11 1278912 rs56220864 G C NON_SYNONYMOUS_CODING MUC5B MODERATE|MISSENSE|gaG/gaC|E5477D|5765|MUC5B|protein_coding|CODING|ENST00000447027|exon_11_1278760_1278940 . . . 0/1:99:107,0,178 11 1628948 rs117085626 G A NON_SYNONYMOUS_CODING KRTAP5-3 MODERATE|MISSENSE|tCc/tTc|S223F|238|KRTAP5-3|protein_coding|CODING|ENST00000399685|exon_11_1628795_1629693 . . 0/1:99:154,0,215 . 11 1651555 rs147101544 C A NON_SYNONYMOUS_CODING KRTAP5-5 MODERATE|MISSENSE|cCc/cAc|P133H|208|KRTAP5-5|protein_coding|CODING|ENST00000422553|exon_11_1651324_1651784 . . 0/1:60:57,0,71 . 11 1651555 rs147101544 C A NON_SYNONYMOUS_CODING KRTAP5-5 MODERATE|MISSENSE|cCc/cAc|P162H|237|KRTAP5-5|protein_coding|CODING|ENST00000399676|exon_11_1651033_1652160 . . 0/1:60:57,0,71 . 11 1857243 rs907608 G A NON_SYNONYMOUS_CODING SYT8 MODERATE|MISSENSE|cGg/cAg|R129Q|158|SYT8|protein_coding|CODING|ENST00000436964|exon_11_1857116_1857516 . 0/1:99:239,0,198 . . 11 1857243 rs907608 G A NON_SYNONYMOUS_CODING SYT8 MODERATE|MISSENSE|cGg/cAg|R281Q|310|SYT8|protein_coding|CODING|ENST00000535046|exon_11_1857116_1857514 . 0/1:99:239,0,198 . . 11 1857270 rs907609 C T NON_SYNONYMOUS_CODING SYT8 MODERATE|MISSENSE|aCg/aTg|T138M|158|SYT8|protein_coding|CODING|ENST00000436964|exon_11_1857116_1857516 . 0/1:99:207,0,204 . . 11 1857270 rs907609 C T NON_SYNONYMOUS_CODING SYT8 MODERATE|MISSENSE|aCg/aTg|T290M|310|SYT8|protein_coding|CODING|ENST00000535046|exon_11_1857116_1857514 . 0/1:99:207,0,204 . . 11 2181073 rs3842752 G A NON_SYNONYMOUS_CODING INS MODERATE|MISSENSE|Cgc/Tgc|R73C|91|INS|protein_coding|CODING|ENST00000421783|exon_11_2181013_2181102 . . 0/1:99:243,0,220 . 11 2291195 . T C NON_SYNONYMOUS_CODING ASCL2 MODERATE|MISSENSE|cAg/cGg|Q123R|193|ASCL2|protein_coding|CODING|ENST00000331289|exon_11_2290963_2292182 . . 0/1:73:70,0,109 . 11 3114190 rs35733103 C T NON_SYNONYMOUS_CODING OSBPL5 MODERATE|MISSENSE|cGg/cAg|R134Q|333|OSBPL5|protein_coding|CODING|ENST00000478260|exon_11_3114097_3114282 0/1:99:221,0,176 . . . 11 3114190 rs35733103 C T NON_SYNONYMOUS_CODING OSBPL5 MODERATE|MISSENSE|cGg/cAg|R233Q|432|OSBPL5|protein_coding|CODING|ENST00000534454|exon_11_3114097_3114282 0/1:99:221,0,176 . . . 11 3114190 rs35733103 C T NON_SYNONYMOUS_CODING OSBPL5 MODERATE|MISSENSE|cGg/cAg|R299Q|439|OSBPL5|protein_coding|CODING|ENST00000357352|exon_11_3114097_3114282 0/1:99:221,0,176 . . . 11 3114190 rs35733103 C T NON_SYNONYMOUS_CODING OSBPL5 MODERATE|MISSENSE|cGg/cAg|R311Q|510|OSBPL5|protein_coding|CODING|ENST00000542243|exon_11_3114097_3114282 0/1:99:221,0,176 . . . 11 3114190 rs35733103 C T NON_SYNONYMOUS_CODING OSBPL5 MODERATE|MISSENSE|cGg/cAg|R591Q|790|OSBPL5|protein_coding|CODING|ENST00000525498|exon_11_3114097_3114282 0/1:99:221,0,176 . . . 11 3114190 rs35733103 C T NON_SYNONYMOUS_CODING OSBPL5 MODERATE|MISSENSE|cGg/cAg|R612Q|811|OSBPL5|protein_coding|CODING|ENST00000348039|exon_11_3114097_3114282 0/1:99:221,0,176 . . . 11 3114190 rs35733103 C T NON_SYNONYMOUS_CODING OSBPL5 MODERATE|MISSENSE|cGg/cAg|R612Q|811|OSBPL5|protein_coding|CODING|ENST00000389989|exon_11_3114097_3114282 0/1:99:221,0,176 . . . 11 3114190 rs35733103 C T NON_SYNONYMOUS_CODING OSBPL5 MODERATE|MISSENSE|cGg/cAg|R680Q|879|OSBPL5|protein_coding|CODING|ENST00000263650|exon_11_3114097_3114282 0/1:99:221,0,176 . . . 11 3687626 rs2231547 T G NON_SYNONYMOUS_CODING CHRNA10 MODERATE|MISSENSE|gAg/gCg|E355A|450|CHRNA10|protein_coding|CODING|ENST00000250699|exon_11_3686817_3687794 . . 0/1:99:169,0,199 . 11 3687651 rs2231546 C T NON_SYNONYMOUS_CODING CHRNA10 MODERATE|MISSENSE|Ggc/Agc|G347S|450|CHRNA10|protein_coding|CODING|ENST00000250699|exon_11_3686817_3687794 . . 0/1:99:249,0,190 . 11 3744504 rs61751338 G A NON_SYNONYMOUS_CODING NUP98 MODERATE|MISSENSE|Cgt/Tgt|R677C|1638|NUP98|protein_coding|CODING|ENST00000359171|exon_11_3744387_3744685 0/1:99:255,0,242 . . . 11 3744504 rs61751338 G A NON_SYNONYMOUS_CODING NUP98 MODERATE|MISSENSE|Cgt/Tgt|R677C|1726|NUP98|protein_coding|CODING|ENST00000355260|exon_11_3744387_3744685 0/1:99:255,0,242 . . . 11 3744504 rs61751338 G A NON_SYNONYMOUS_CODING NUP98 MODERATE|MISSENSE|Cgt/Tgt|R677C|1800|NUP98|protein_coding|CODING|ENST00000324932|exon_11_3744387_3744685 0/1:99:255,0,242 . . . 11 3744504 rs61751338 G A NON_SYNONYMOUS_CODING NUP98 MODERATE|MISSENSE|Cgt/Tgt|R677C|920|NUP98|protein_coding|CODING|ENST00000397004|exon_11_3744387_3744685 0/1:99:255,0,242 . . . 11 3744504 rs61751338 G A NON_SYNONYMOUS_CODING NUP98 MODERATE|MISSENSE|Cgt/Tgt|R694C|937|NUP98|protein_coding|CODING|ENST00000397007|exon_11_3744387_3744685 0/1:99:255,0,242 . . . 11 4389110 rs11031961 G A NON_SYNONYMOUS_CODING OR52B4 MODERATE|MISSENSE|aCa/aTa|T139I|314|OR52B4|protein_coding|CODING|ENST00000408920|exon_11_4388493_4389616 . . 0/1:99:217,0,255 . 11 4608116 rs7128702 T C NON_SYNONYMOUS_CODING OR52I2 MODERATE|MISSENSE|cTt/cCt|L25P|350|OR52I2|protein_coding|CODING|ENST00000312614|exon_11_4608021_4609135 . . . 0/1:99:255,0,255 11 4608262 rs12793957 A C NON_SYNONYMOUS_CODING OR52I2 MODERATE|MISSENSE|Atc/Ctc|I74L|350|OR52I2|protein_coding|CODING|ENST00000312614|exon_11_4608021_4609135 . 0/1:99:188,0,178 0/1:99:193,0,255 0/1:99:144,0,255 11 4615857 rs62622512 G A NON_SYNONYMOUS_CODING OR52I1 MODERATE|MISSENSE|Gtg/Atg|V197M|323|OR52I1|protein_coding|CODING|ENST00000530443|exon_11_4615269_4616240 . . . 0/1:99:174,0,255 11 4615857 rs62622512 G A NON_SYNONYMOUS_CODING OR52I1 MODERATE|MISSENSE|Gtg/Atg|V221M|348|OR52I1|protein_coding|CODING|ENST00000450052|exon_11_4615212_4616243 . . . 0/1:99:174,0,255 11 4616062 rs61997187 C T NON_SYNONYMOUS_CODING OR52I1 MODERATE|MISSENSE|gCg/gTg|A265V|323|OR52I1|protein_coding|CODING|ENST00000530443|exon_11_4615269_4616240 . . . 0/1:99:222,0,245 11 4616062 rs61997187 C T NON_SYNONYMOUS_CODING OR52I1 MODERATE|MISSENSE|gCg/gTg|A289V|348|OR52I1|protein_coding|CODING|ENST00000450052|exon_11_4615212_4616243 . . . 0/1:99:222,0,245 11 4616119 rs61997192 T C NON_SYNONYMOUS_CODING OR52I1 MODERATE|MISSENSE|cTg/cCg|L284P|323|OR52I1|protein_coding|CODING|ENST00000530443|exon_11_4615269_4616240 . . . 0/1:99:112,0,251 11 4616119 rs61997192 T C NON_SYNONYMOUS_CODING OR52I1 MODERATE|MISSENSE|cTg/cCg|L308P|348|OR52I1|protein_coding|CODING|ENST00000450052|exon_11_4615212_4616243 . . . 0/1:99:112,0,251 11 4661243 rs61740347 T C NON_SYNONYMOUS_CODING OR51D1 MODERATE|MISSENSE|Ttc/Ctc|F75L|324|OR51D1|protein_coding|CODING|ENST00000357605|exon_11_4660945_4662068 . . . 0/1:99:255,0,255 11 4661568 rs61746547 A G NON_SYNONYMOUS_CODING OR51D1 MODERATE|MISSENSE|cAa/cGa|Q183R|324|OR51D1|protein_coding|CODING|ENST00000357605|exon_11_4660945_4662068 . . . 0/1:99:221,0,255 11 4661826 rs79020081 T C NON_SYNONYMOUS_CODING OR51D1 MODERATE|MISSENSE|aTt/aCt|I269T|324|OR51D1|protein_coding|CODING|ENST00000357605|exon_11_4660945_4662068 . . . 0/1:99:147,0,255 11 4791053 rs148685376 G C NON_SYNONYMOUS_CODING OR51F1 MODERATE|MISSENSE|cCt/cGt|P32R|312|OR51F1|protein_coding|CODING|ENST00000343430|exon_11_4790209_4791147 . . . 0/1:99:224,0,255 11 4791053 rs148685376 G C NON_SYNONYMOUS_CODING OR51F1 MODERATE|MISSENSE|cCt/cGt|P39R|319|OR51F1|protein_coding|CODING|ENST00000380383|exon_11_4790209_4791168 . . . 0/1:99:224,0,255 11 4945229 rs10836954 G A NON_SYNONYMOUS_CODING OR51G1 MODERATE|MISSENSE|tCa/tTa|S114L|321|OR51G1|protein_coding|CODING|ENST00000321961|exon_11_4944531_4945637 1/1:99:255,84,0 . . . 11 4967678 rs12271991 G A NON_SYNONYMOUS_CODING OR51A4 MODERATE|MISSENSE|tCt/tTt|S218F|313|OR51A4|protein_coding|CODING|ENST00000380373|exon_11_4967355_4968356 0/1:99:105,0,255 . . . 11 4967831 rs2595987 T C NON_SYNONYMOUS_CODING OR51A4 MODERATE|MISSENSE|aAc/aGc|N167S|313|OR51A4|protein_coding|CODING|ENST00000380373|exon_11_4967355_4968356 . . 0/1:99:141,0,232 0/1:99:117,0,255 11 4976013 rs55827480 A G NON_SYNONYMOUS_CODING OR51A2 MODERATE|MISSENSE|Tgg/Cgg|W311R|313|OR51A2|protein_coding|CODING|ENST00000380371|exon_11_4976002_4976943 1/1:99:255,90,0 1/1:33:125,18,0 . . 11 4976077 rs2570573 T G NON_SYNONYMOUS_CODING OR51A2 MODERATE|MISSENSE|aaA/aaC|K289N|313|OR51A2|protein_coding|CODING|ENST00000380371|exon_11_4976002_4976943 1/1:99:142,51,0 1/1:33:100,18,0 . . 11 4976145 rs56066301 C G NON_SYNONYMOUS_CODING OR51A2 MODERATE|MISSENSE|Ggg/Cgg|G267R|313|OR51A2|protein_coding|CODING|ENST00000380371|exon_11_4976002_4976943 1/1:99:141,51,0 1/1:39:111,21,0 . . 11 4976291 rs55889636 G A NON_SYNONYMOUS_CODING OR51A2 MODERATE|MISSENSE|tCt/tTt|S218F|313|OR51A2|protein_coding|CODING|ENST00000380371|exon_11_4976002_4976943 1/1:99:255,67,0 1/1:16:164,9,0 . . 11 4976444 rs117546301 C T NON_SYNONYMOUS_CODING OR51A2 MODERATE|MISSENSE|aGc/aAc|S167N|313|OR51A2|protein_coding|CODING|ENST00000380371|exon_11_4976002_4976943 1/1:27:119,15,0 . . . 11 5010905 rs2499953 A G NON_SYNONYMOUS_CODING MMP26 MODERATE|MISSENSE|Aag/Gag|K43E|261|MMP26|protein_coding|CODING|ENST00000300762|exon_11_5010878_5011098 0/1:99:249,0,255 . . . 11 5010905 rs2499953 A G NON_SYNONYMOUS_CODING MMP26 MODERATE|MISSENSE|Aag/Gag|K43E|261|MMP26|protein_coding|CODING|ENST00000380390|exon_11_5010878_5011098 0/1:99:249,0,255 . . . 11 5068297 rs58664826 G A NON_SYNONYMOUS_CODING OR52J3 MODERATE|MISSENSE|tGt/tAt|C181Y|311|OR52J3|protein_coding|CODING|ENST00000380370|exon_11_5067756_5068691 . . 0/1:99:255,0,255 . 11 5080359 rs11035396 G A NON_SYNONYMOUS_CODING OR52E2 MODERATE|MISSENSE|Cgg/Tgg|R167W|325|OR52E2|protein_coding|CODING|ENST00000321522|exon_11_5079880_5080857 . . . 0/1:99:193,0,255 11 5173149 rs77308879 C A NON_SYNONYMOUS_CODING OR52A1 MODERATE|MISSENSE|Gta/Tta|V151L|312|OR52A1|protein_coding|CODING|ENST00000328942|exon_11_5172661_5173599 . . . 0/1:99:242,0,206 11 5173149 rs77308879 C A NON_SYNONYMOUS_CODING OR52A1 MODERATE|MISSENSE|Gta/Tta|V151L|312|OR52A1|protein_coding|CODING|ENST00000380367|exon_11_5172239_5173920 . . . 0/1:99:242,0,206 11 5373095 rs77989044 T C NON_SYNONYMOUS_CODING OR51B6 MODERATE|MISSENSE|Tgt/Cgt|C119R|304|OR51B6|protein_coding|CODING|ENST00000537299|exon_11_5372771_5373655 . . . 0/1:79:76,0,128 11 5373095 rs77989044 T C NON_SYNONYMOUS_CODING OR51B6 MODERATE|MISSENSE|Tgt/Cgt|C120R|312|OR51B6|protein_coding|CODING|ENST00000380219|exon_11_5372738_5373676 . . . 0/1:79:76,0,128 11 5373309 rs115333544 C A NON_SYNONYMOUS_CODING OR51B6 MODERATE|MISSENSE|aCc/aAc|T190N|304|OR51B6|protein_coding|CODING|ENST00000537299|exon_11_5372771_5373655 . . . 0/1:72:69,0,250 11 5373309 rs115333544 C A NON_SYNONYMOUS_CODING OR51B6 MODERATE|MISSENSE|aCc/aAc|T191N|312|OR51B6|protein_coding|CODING|ENST00000380219|exon_11_5372738_5373676 . . . 0/1:72:69,0,250 11 5443969 rs58283839 A C NON_SYNONYMOUS_CODING OR51Q1 MODERATE|MISSENSE|tAt/tCt|Y180S|317|OR51Q1|protein_coding|CODING|ENST00000300778|exon_11_5443341_5444436 0/1:99:212,0,183 . . . 11 5444362 . T C NON_SYNONYMOUS_CODING OR51Q1 MODERATE|MISSENSE|cTc/cCc|L311P|317|OR51Q1|protein_coding|CODING|ENST00000300778|exon_11_5443341_5444436 0/1:99:255,0,255 . . . 11 5462105 rs60832895 T C NON_SYNONYMOUS_CODING OR51I1 MODERATE|MISSENSE|Act/Gct|T211A|311|OR51I1|protein_coding|CODING|ENST00000321307|exon_11_5461800_5462714 0/1:99:209,0,255 . . . 11 5462105 rs60832895 T C NON_SYNONYMOUS_CODING OR51I1 MODERATE|MISSENSE|Act/Gct|T214A|314|OR51I1|protein_coding|CODING|ENST00000380211|exon_11_5461800_5462744 0/1:99:209,0,255 . . . 11 5510423 . ATCTTCTT ATCTT CODON_CHANGE_PLUS_CODON_DELETION OR52D1 MODERATE||ttcttg/ttg|FL164L|318|OR52D1|protein_coding|CODING|ENST00000322641|exon_11_5509915_5510979 0/1:99:255,0,124 . . . 11 5510598 rs7950082 A T NON_SYNONYMOUS_CODING OR52D1 MODERATE|MISSENSE|tAt/tTt|Y221F|318|OR52D1|protein_coding|CODING|ENST00000322641|exon_11_5509915_5510979 . 0/1:99:255,0,255 . . 11 5510688 rs7101919 T C NON_SYNONYMOUS_CODING OR52D1 MODERATE|MISSENSE|aTc/aCc|I251T|318|OR52D1|protein_coding|CODING|ENST00000322641|exon_11_5509915_5510979 . . 1/1:99:255,102,0 . 11 5528918 rs2227271 C T NON_SYNONYMOUS_CODING UBQLN3 MODERATE|MISSENSE|cGg/cAg|R624Q|655|UBQLN3|protein_coding|CODING|ENST00000311659|exon_11_5528530_5530824 . . 1/1:99:255,87,0 . 11 5536309 rs12223282 G C NON_SYNONYMOUS_CODING UBQLNL MODERATE|MISSENSE|Cag/Gag|Q240E|260|UBQLNL|protein_coding|CODING|ENST00000538889|exon_11_5536244_5536638 . . 0/1:99:255,0,202 . 11 5536309 rs12223282 G C NON_SYNONYMOUS_CODING UBQLNL MODERATE|MISSENSE|Cag/Gag|Q455E|475|UBQLNL|protein_coding|CODING|ENST00000380184|exon_11_5535623_5537935 . . 0/1:99:255,0,202 . 11 5537245 rs3802978 G T NON_SYNONYMOUS_CODING UBQLNL MODERATE|MISSENSE|Caa/Aaa|Q143K|475|UBQLNL|protein_coding|CODING|ENST00000380184|exon_11_5535623_5537935 0/1:99:194,0,255 . . . 11 5602929 rs74053516 C A NON_SYNONYMOUS_CODING OR52B6 MODERATE|MISSENSE|Ctt/Att|L275I|335|OR52B6|protein_coding|CODING|ENST00000345043|exon_11_5602107_5603114 . . 0/1:99:255,0,255 . 11 5632555 rs151311625 C T NON_SYNONYMOUS_CODING TRIM6 MODERATE|MISSENSE|Cgt/Tgt|R309C|313|TRIM6|protein_coding|CODING|ENST00000445329|exon_11_5632007_5634182 . . 0/1:99:240,0,208 . 11 5632555 rs151311625 C T NON_SYNONYMOUS_CODING TRIM6 MODERATE|MISSENSE|Cgt/Tgt|R309C|313|TRIM6|protein_coding|CODING|ENST00000506134|exon_11_5632007_5632817 . . 0/1:99:240,0,208 . 11 5632555 rs151311625 C T NON_SYNONYMOUS_CODING TRIM6 MODERATE|MISSENSE|Cgt/Tgt|R309C|313|TRIM6|protein_coding|CODING|ENST00000507320|exon_11_5632007_5632930 . . 0/1:99:240,0,208 . 11 5632555 rs151311625 C T NON_SYNONYMOUS_CODING TRIM6 MODERATE|MISSENSE|Cgt/Tgt|R309C|313|TRIM6|protein_coding|CODING|ENST00000515022|exon_11_5632007_5632575 . . 0/1:99:240,0,208 . 11 5632555 rs151311625 C T NON_SYNONYMOUS_CODING TRIM6 MODERATE|MISSENSE|Cgt/Tgt|R391C|395|TRIM6|protein_coding|CODING|ENST00000396867|exon_11_5632007_5634181 . . 0/1:99:240,0,208 . 11 5632555 rs151311625 C T NON_SYNONYMOUS_CODING TRIM6 MODERATE|MISSENSE|Cgt/Tgt|R458C|462|TRIM6|protein_coding|CODING|ENST00000380107|exon_11_5632007_5633653 . . 0/1:99:240,0,208 . 11 5632555 rs151311625 C T NON_SYNONYMOUS_CODING TRIM6 MODERATE|MISSENSE|Cgt/Tgt|R484C|488|TRIM6|protein_coding|CODING|ENST00000278302|exon_11_5632007_5634182 . . 0/1:99:240,0,208 . 11 5632555 rs151311625 C T NON_SYNONYMOUS_CODING TRIM6 MODERATE|MISSENSE|Cgt/Tgt|R512C|516|TRIM6|protein_coding|CODING|ENST00000380097|exon_11_5632007_5634182 . . 0/1:99:240,0,208 . 11 5701281 rs3740996 G A NON_SYNONYMOUS_CODING TRIM5 MODERATE|MISSENSE|Cac/Tac|H43Y|208|TRIM5|protein_coding|CODING|ENST00000412903|exon_11_5700991_5701468 0/1:99:164,0,255 . . . 11 5701281 rs3740996 G A NON_SYNONYMOUS_CODING TRIM5 MODERATE|MISSENSE|Cac/Tac|H43Y|326|TRIM5|protein_coding|CODING|ENST00000380027|exon_11_5700991_5701468 0/1:99:164,0,255 . . . 11 5701281 rs3740996 G A NON_SYNONYMOUS_CODING TRIM5 MODERATE|MISSENSE|Cac/Tac|H43Y|326|TRIM5|protein_coding|CODING|ENST00000396855|exon_11_5700991_5701468 0/1:99:164,0,255 . . . 11 5701281 rs3740996 G A NON_SYNONYMOUS_CODING TRIM5 MODERATE|MISSENSE|Cac/Tac|H43Y|327|TRIM5|protein_coding|CODING|ENST00000396853|exon_11_5700991_5701468 0/1:99:164,0,255 . . . 11 5701281 rs3740996 G A NON_SYNONYMOUS_CODING TRIM5 MODERATE|MISSENSE|Cac/Tac|H43Y|347|TRIM5|protein_coding|CODING|ENST00000396847|exon_11_5700991_5701468 0/1:99:164,0,255 . . . 11 5701281 rs3740996 G A NON_SYNONYMOUS_CODING TRIM5 MODERATE|MISSENSE|Cac/Tac|H43Y|493|TRIM5|protein_coding|CODING|ENST00000305836|exon_11_5700991_5701468 0/1:99:164,0,255 . . . 11 5701281 rs3740996 G A NON_SYNONYMOUS_CODING TRIM5 MODERATE|MISSENSE|Cac/Tac|H43Y|493|TRIM5|protein_coding|CODING|ENST00000380034|exon_11_5700991_5701468 0/1:99:164,0,255 . . . 11 5701281 rs3740996 G A NON_SYNONYMOUS_CODING TRIM5 MODERATE|MISSENSE|Cac/Tac|H43Y|71|TRIM5|protein_coding|CODING|ENST00000419850|exon_11_5701192_5701468 0/1:99:164,0,255 . . . 11 5719720 . C T NON_SYNONYMOUS_CODING TRIM22 MODERATE|MISSENSE|aCg/aTg|T154M|420|TRIM22|protein_coding|CODING|ENST00000455293|exon_11_5719599_5719775 0/1:99:160,0,255 . . . 11 5719720 . C T NON_SYNONYMOUS_CODING TRIM22 MODERATE|MISSENSE|aCg/aTg|T200M|304|TRIM22|protein_coding|CODING|ENST00000454828|exon_11_5719545_5719775 0/1:99:160,0,255 . . . 11 5719720 . C T NON_SYNONYMOUS_CODING TRIM22 MODERATE|MISSENSE|aCg/aTg|T232M|498|TRIM22|protein_coding|CODING|ENST00000379965|exon_11_5719545_5719775 0/1:99:160,0,255 . . . 11 5719720 . C T NON_SYNONYMOUS_CODING TRIM22 MODERATE|MISSENSE|aCg/aTg|T43M|309|TRIM22|protein_coding|CODING|ENST00000545338|exon_11_5719545_5719775 0/1:99:160,0,255 . . . 11 5758386 rs62621167 C T NON_SYNONYMOUS_CODING OR56B1 MODERATE|MISSENSE|Ctt/Ttt|L214F|324|OR56B1|protein_coding|CODING|ENST00000317121|exon_11_5757681_5758768 . . 0/1:99:255,0,239 . 11 5776595 rs12363178 T G NON_SYNONYMOUS_CODING OR52N4 MODERATE|MISSENSE|Tgg/Ggg|W209G|321|OR52N4|protein_coding|CODING|ENST00000317254|exon_11_5775923_5776959 0/1:99:255,0,255 0/1:99:255,0,255 . . 11 5799468 rs12360738 C T NON_SYNONYMOUS_CODING OR52N5 MODERATE|MISSENSE|Gta/Ata|V133I|324|OR52N5|protein_coding|CODING|ENST00000317093|exon_11_5798864_5799897 0/1:99:245,0,255 . . . 11 5809811 rs12365487 G T NON_SYNONYMOUS_CODING OR52N1 MODERATE|MISSENSE|aCc/aAc|T79N|320|OR52N1|protein_coding|CODING|ENST00000317078|exon_11_5809084_5810046 0/1:99:255,0,255 . . . 11 5841701 rs73394370 G A NON_SYNONYMOUS_CODING OR52N2 MODERATE|MISSENSE|Ggg/Agg|G46R|321|OR52N2|protein_coding|CODING|ENST00000317037|exon_11_5841544_5842578 . 0/1:99:239,0,201 . . 11 5841926 rs73394377 G A NON_SYNONYMOUS_CODING OR52N2 MODERATE|MISSENSE|Gcc/Acc|A121T|321|OR52N2|protein_coding|CODING|ENST00000317037|exon_11_5841544_5842578 . 0/1:99:255,0,211 . . 11 5842329 rs74377989 T G NON_SYNONYMOUS_CODING OR52N2 MODERATE|MISSENSE|gTt/gGt|V255G|321|OR52N2|protein_coding|CODING|ENST00000317037|exon_11_5841544_5842578 . 0/1:99:196,0,255 . . 11 5842384 rs62621415 C G NON_SYNONYMOUS_CODING OR52N2 MODERATE|MISSENSE|aaC/aaG|N273K|321|OR52N2|protein_coding|CODING|ENST00000317037|exon_11_5841544_5842578 . 0/1:99:165,0,255 . . 11 5878836 rs111407817 T A NON_SYNONYMOUS_CODING OR52E8 MODERATE|MISSENSE|Att/Ttt|I33F|317|OR52E8|protein_coding|CODING|ENST00000537935|exon_11_5877904_5878964 . 0/1:99:255,0,252 . . 11 6007772 rs61750896 G A NON_SYNONYMOUS_CODING OR52L1 MODERATE|MISSENSE|tCa/tTa|S130L|329|OR52L1|protein_coding|CODING|ENST00000332249|exon_11_6007122_6008215 0/1:99:188,0,255 . . 1/1:99:255,75,0 11 6340416 rs12294600 G A NON_SYNONYMOUS_CODING PRKCDBP MODERATE|MISSENSE|Ctc/Ttc|L255F|261|PRKCDBP|protein_coding|CODING|ENST00000303927|exon_11_6340176_6340794 . . 0/1:99:255,0,242 . 11 6340416 rs12294600 G A NON_SYNONYMOUS_CODING PRKCDBP MODERATE|MISSENSE|Ctc/Ttc|L287F|293|PRKCDBP|protein_coding|CODING|ENST00000530979|exon_11_6340374_6340794 . . 0/1:99:255,0,242 . 11 6341397 rs10839551 C T NON_SYNONYMOUS_CODING PRKCDBP MODERATE|MISSENSE|Gcc/Acc|A104T|261|PRKCDBP|protein_coding|CODING|ENST00000303927|exon_11_6341323_6341877 . . . 0/1:99:102,0,216 11 6341397 rs10839551 C T NON_SYNONYMOUS_CODING PRKCDBP MODERATE|MISSENSE|Gcc/Acc|A104T|293|PRKCDBP|protein_coding|CODING|ENST00000530979|exon_11_6341323_6341762 . . . 0/1:99:102,0,216 11 6578641 rs192678564 C A NON_SYNONYMOUS_CODING DNHD1 MODERATE|MISSENSE|Ccc/Acc|P2706T|4753|DNHD1|protein_coding|CODING|ENST00000254579|exon_11_6577913_6579527 . . . 0/1:99:199,0,98 11 6578641 rs192678564 C A NON_SYNONYMOUS_CODING DNHD1 MODERATE|MISSENSE|Ccc/Acc|P2706T|4753|DNHD1|protein_coding|CODING|ENST00000527990|exon_11_6577913_6579527 . . . 0/1:99:199,0,98 11 6578641 rs192678564 C A NON_SYNONYMOUS_CODING DNHD1 MODERATE|MISSENSE|Ccc/Acc|P453T|748|DNHD1|protein_coding|CODING|ENST00000534210|exon_11_6577913_6579923 . . . 0/1:99:199,0,98 11 6637588 rs141482368 T G NON_SYNONYMOUS_CODING TPP1 MODERATE|MISSENSE|Atg/Ctg|M102L|320|TPP1|protein_coding|CODING|ENST00000533371|exon_11_6637546_6637734 0/1:99:123,0,255 . . . 11 6637588 rs141482368 T G NON_SYNONYMOUS_CODING TPP1 MODERATE|MISSENSE|Atg/Ctg|M345L|563|TPP1|protein_coding|CODING|ENST00000299427|exon_11_6637546_6637734 0/1:99:123,0,255 . . . 11 6912893 rs150538963 G C NON_SYNONYMOUS_CODING OR2D2 MODERATE|MISSENSE|aCt/aGt|T280S|308|OR2D2|protein_coding|CODING|ENST00000299459|exon_11_6912721_6913830 . . . 0/1:99:255,0,244 11 7022159 rs185967590 C T NON_SYNONYMOUS_CODING ZNF214 MODERATE|MISSENSE|tGt/tAt|C252Y|606|ZNF214|protein_coding|CODING|ENST00000278314|exon_11_7020549_7022786 0/1:99:255,0,197 . . . 11 7022159 rs185967590 C T NON_SYNONYMOUS_CODING ZNF214 MODERATE|MISSENSE|tGt/tAt|C252Y|606|ZNF214|protein_coding|CODING|ENST00000536068|exon_11_7020594_7022786 0/1:99:255,0,197 . . . 11 7059981 rs61063081 G A NON_SYNONYMOUS_CODING NLRP14 MODERATE|MISSENSE|cGg/cAg|R55Q|1093|NLRP14|protein_coding|CODING|ENST00000299481|exon_11_7059797_7060106 . 1/1:99:255,99,0 . 0/1:99:255,0,197 11 7063982 rs78572085 G A NON_SYNONYMOUS_CODING NLRP14 MODERATE|MISSENSE|gGc/gAc|G242D|1093|NLRP14|protein_coding|CODING|ENST00000299481|exon_11_7063619_7065215 0/1:99:244,0,255 . . . 11 7091569 rs17280682 C T NON_SYNONYMOUS_CODING NLRP14 MODERATE|MISSENSE|Ctt/Ttt|L1010F|1093|NLRP14|protein_coding|CODING|ENST00000299481|exon_11_7091517_7091687 . 1/1:99:255,144,0 . 0/1:99:254,0,255 11 7110548 rs11041170 C T NON_SYNONYMOUS_CODING RBMXL2 MODERATE|MISSENSE|gCc/gTc|A66V|392|RBMXL2|protein_coding|CODING|ENST00000306904|exon_11_7110165_7112379 . 1/1:63:254,33,0 . 0/1:99:126,0,182 11 7324584 rs78477754 G A NON_SYNONYMOUS_CODING SYT9 MODERATE|MISSENSE|Gtg/Atg|V122M|319|SYT9|protein_coding|CODING|ENST00000396716|exon_11_7324270_7324621 . 0/1:99:172,0,255 . . 11 7324584 rs78477754 G A NON_SYNONYMOUS_CODING SYT9 MODERATE|MISSENSE|Gtg/Atg|V154M|491|SYT9|protein_coding|CODING|ENST00000318881|exon_11_7324270_7324621 . 0/1:99:172,0,255 . . 11 7507182 rs118163706 A G NON_SYNONYMOUS_CODING OLFML1 MODERATE|MISSENSE|Acc/Gcc|T26A|402|OLFML1|protein_coding|CODING|ENST00000329293|exon_11_7506713_7507235 . . . 0/1:99:152,0,222 11 7507182 rs118163706 A G NON_SYNONYMOUS_CODING OLFML1 MODERATE|MISSENSE|Acc/Gcc|T26A|402|OLFML1|protein_coding|CODING|ENST00000530135|exon_11_7507106_7507235 . . . 0/1:99:152,0,222 11 7507182 rs118163706 A G NON_SYNONYMOUS_CODING OLFML1 MODERATE|MISSENSE|Acc/Gcc|T26A|56|OLFML1|protein_coding|CODING|ENST00000528758|exon_11_7506837_7507235 . . . 0/1:99:152,0,222 11 7507182 rs118163706 A G NON_SYNONYMOUS_CODING OLFML1 MODERATE|MISSENSE|Acc/Gcc|T26A|67|OLFML1|protein_coding|CODING|ENST00000534244|exon_11_7506737_7507235 . . . 0/1:99:152,0,222 11 7531229 rs76280703 G A NON_SYNONYMOUS_CODING OLFML1 MODERATE|MISSENSE|cGc/cAc|R340H|402|OLFML1|protein_coding|CODING|ENST00000329293|exon_11_7530629_7532608 . . . 0/1:99:255,0,239 11 7531229 rs76280703 G A NON_SYNONYMOUS_CODING OLFML1 MODERATE|MISSENSE|cGc/cAc|R340H|402|OLFML1|protein_coding|CODING|ENST00000530135|exon_11_7530629_7531580 . . . 0/1:99:255,0,239 11 7673029 rs77873429 T C NON_SYNONYMOUS_CODING PPFIBP2 MODERATE|MISSENSE|aTg/aCg|M138T|217|PPFIBP2|protein_coding|CODING|ENST00000537211|exon_11_7672887_7673075 0/1:99:120,0,233 . . . 11 7673029 rs77873429 T C NON_SYNONYMOUS_CODING PPFIBP2 MODERATE|MISSENSE|aTg/aCg|M639T|718|PPFIBP2|protein_coding|CODING|ENST00000533792|exon_11_7672887_7673075 0/1:99:120,0,233 . . . 11 7673029 rs77873429 T C NON_SYNONYMOUS_CODING PPFIBP2 MODERATE|MISSENSE|aTg/aCg|M654T|733|PPFIBP2|protein_coding|CODING|ENST00000530181|exon_11_7672887_7673075 0/1:99:120,0,233 . . . 11 7673029 rs77873429 T C NON_SYNONYMOUS_CODING PPFIBP2 MODERATE|MISSENSE|aTg/aCg|M685T|764|PPFIBP2|protein_coding|CODING|ENST00000528883|exon_11_7672887_7673075 0/1:99:120,0,233 . . . 11 7673029 rs77873429 T C NON_SYNONYMOUS_CODING PPFIBP2 MODERATE|MISSENSE|aTg/aCg|M720T|758|PPFIBP2|protein_coding|CODING|ENST00000541115|exon_11_7672887_7673057 0/1:99:120,0,233 . . . 11 7673029 rs77873429 T C NON_SYNONYMOUS_CODING PPFIBP2 MODERATE|MISSENSE|aTg/aCg|M797T|876|PPFIBP2|protein_coding|CODING|ENST00000299492|exon_11_7672887_7673075 0/1:99:120,0,233 . . . 11 7673049 rs77975665 C G NON_SYNONYMOUS_CODING PPFIBP2 MODERATE|MISSENSE|Cca/Gca|P145A|217|PPFIBP2|protein_coding|CODING|ENST00000537211|exon_11_7672887_7673075 0/1:99:130,0,189 . . . 11 7673049 rs77975665 C G NON_SYNONYMOUS_CODING PPFIBP2 MODERATE|MISSENSE|Cca/Gca|P646A|718|PPFIBP2|protein_coding|CODING|ENST00000533792|exon_11_7672887_7673075 0/1:99:130,0,189 . . . 11 7673049 rs77975665 C G NON_SYNONYMOUS_CODING PPFIBP2 MODERATE|MISSENSE|Cca/Gca|P661A|733|PPFIBP2|protein_coding|CODING|ENST00000530181|exon_11_7672887_7673075 0/1:99:130,0,189 . . . 11 7673049 rs77975665 C G NON_SYNONYMOUS_CODING PPFIBP2 MODERATE|MISSENSE|Cca/Gca|P692A|764|PPFIBP2|protein_coding|CODING|ENST00000528883|exon_11_7672887_7673075 0/1:99:130,0,189 . . . 11 7673049 rs77975665 C G NON_SYNONYMOUS_CODING PPFIBP2 MODERATE|MISSENSE|Cca/Gca|P727A|758|PPFIBP2|protein_coding|CODING|ENST00000541115|exon_11_7672887_7673057 0/1:99:130,0,189 . . . 11 7673049 rs77975665 C G NON_SYNONYMOUS_CODING PPFIBP2 MODERATE|MISSENSE|Cca/Gca|P804A|876|PPFIBP2|protein_coding|CODING|ENST00000299492|exon_11_7672887_7673075 0/1:99:130,0,189 . . . 11 7690873 rs61733056 C T NON_SYNONYMOUS_CODING CYB5R2 MODERATE|MISSENSE|Gtg/Atg|V141M|188|CYB5R2|protein_coding|CODING|ENST00000524608|exon_11_7690856_7690962 0/1:99:255,0,219 . . . 11 7690873 rs61733056 C T NON_SYNONYMOUS_CODING CYB5R2 MODERATE|MISSENSE|Gtg/Atg|V81M|115|CYB5R2|protein_coding|CODING|ENST00000436351|exon_11_7690856_7690962 0/1:99:255,0,219 . . . 11 7690873 rs61733056 C T NON_SYNONYMOUS_CODING CYB5R2 MODERATE|MISSENSE|Gtg/Atg|V81M|145|CYB5R2|protein_coding|CODING|ENST00000527542|exon_11_7690856_7690962 0/1:99:255,0,219 . . . 11 7690873 rs61733056 C T NON_SYNONYMOUS_CODING CYB5R2 MODERATE|MISSENSE|Gtg/Atg|V81M|170|CYB5R2|protein_coding|CODING|ENST00000531096|exon_11_7690856_7690962 0/1:99:255,0,219 . . . 11 7690873 rs61733056 C T NON_SYNONYMOUS_CODING CYB5R2 MODERATE|MISSENSE|Gtg/Atg|V81M|237|CYB5R2|protein_coding|CODING|ENST00000299497|exon_11_7690856_7690962 0/1:99:255,0,219 . . . 11 7690873 rs61733056 C T NON_SYNONYMOUS_CODING CYB5R2 MODERATE|MISSENSE|Gtg/Atg|V81M|237|CYB5R2|protein_coding|CODING|ENST00000524790|exon_11_7690856_7690962 0/1:99:255,0,219 . . . 11 7690873 rs61733056 C T NON_SYNONYMOUS_CODING CYB5R2 MODERATE|MISSENSE|Gtg/Atg|V81M|276|CYB5R2|protein_coding|CODING|ENST00000299498|exon_11_7690856_7690962 0/1:99:255,0,219 . . . 11 7690873 rs61733056 C T NON_SYNONYMOUS_CODING CYB5R2 MODERATE|MISSENSE|Gtg/Atg|V81M|276|CYB5R2|protein_coding|CODING|ENST00000533558|exon_11_7690856_7690962 0/1:99:255,0,219 . . . 11 7721974 rs61759818 C T NON_SYNONYMOUS_CODING OVCH2 MODERATE|MISSENSE|gGt/gAt|G257D|564|OVCH2|protein_coding|CODING|ENST00000454689|exon_11_7721843_7722032 0/1:99:201,0,255 . . . 11 7749695 rs61890083 C T NON_SYNONYMOUS_CODING OR10AB1P MODERATE|MISSENSE|Ctc/Ttc|L22F|339|OR10AB1P|protein_coding|CODING|ENST00000317359|exon_11_7749632_7749773 0/1:99:255,0,255 . . . 11 7847129 rs149500920 G A NON_SYNONYMOUS_CODING OR5P3 MODERATE|MISSENSE|Ctc/Ttc|L131F|311|OR5P3|protein_coding|CODING|ENST00000328375|exon_11_7846584_7847519 . 0/1:99:255,0,228 . . 11 7949707 rs111488559 A G NON_SYNONYMOUS_CODING OR10A6 MODERATE|MISSENSE|tTt/tCt|F168S|314|OR10A6|protein_coding|CODING|ENST00000309838|exon_11_7949180_7950209 . 0/1:99:255,0,255 . . 11 7984838 . C T NON_SYNONYMOUS_CODING NLRP10 MODERATE|MISSENSE|Gag/Aag|E69K|655|NLRP10|protein_coding|CODING|ENST00000328600|exon_11_7984754_7985204 0/1:99:252,0,161 . . . 11 8040892 . T A NON_SYNONYMOUS_CODING TUB MODERATE|MISSENSE|Tgg/Agg|W15R|512|TUB|protein_coding|CODING|ENST00000534099|exon_11_8040791_8040905 . 0/1:99:127,0,241 . . 11 8646670 rs7947230 T G NON_SYNONYMOUS_CODING TRIM66 MODERATE|MISSENSE|Aac/Cac|N659H|1245|TRIM66|protein_coding|CODING|ENST00000402157|exon_11_8646260_8646775 . 1/1:99:255,81,0 . . 11 8646670 rs7947230 T G NON_SYNONYMOUS_CODING TRIM66 MODERATE|MISSENSE|Aac/Cac|N661H|1216|TRIM66|protein_coding|CODING|ENST00000299550|exon_11_8646256_8646775 . 1/1:99:255,81,0 . . 11 8646763 rs7935453 G C NON_SYNONYMOUS_CODING TRIM66 MODERATE|MISSENSE|Ctg/Gtg|L628V|1245|TRIM66|protein_coding|CODING|ENST00000402157|exon_11_8646260_8646775 . 1/1:99:255,87,0 . . 11 8646763 rs7935453 G C NON_SYNONYMOUS_CODING TRIM66 MODERATE|MISSENSE|Ctg/Gtg|L630V|1216|TRIM66|protein_coding|CODING|ENST00000299550|exon_11_8646256_8646775 . 1/1:99:255,87,0 . . 11 8751640 rs3812762 G C NON_SYNONYMOUS_CODING ST5 MODERATE|MISSENSE|gaC/gaG|D399E|1137|ST5|protein_coding|CODING|ENST00000313726|exon_11_8751497_8752756 . 0/1:99:219,0,255 0/1:99:240,0,255 0/1:99:206,0,171 11 8751640 rs3812762 G C NON_SYNONYMOUS_CODING ST5 MODERATE|MISSENSE|gaC/gaG|D399E|1137|ST5|protein_coding|CODING|ENST00000357665|exon_11_8751497_8752756 . 0/1:99:219,0,255 0/1:99:240,0,255 0/1:99:206,0,171 11 8751640 rs3812762 G C NON_SYNONYMOUS_CODING ST5 MODERATE|MISSENSE|gaC/gaG|D399E|1137|ST5|protein_coding|CODING|ENST00000534127|exon_11_8751497_8752756 . 0/1:99:219,0,255 0/1:99:240,0,255 0/1:99:206,0,171 11 8948615 rs2568076 G A NON_SYNONYMOUS_CODING C11orf16 MODERATE|MISSENSE|cCt/cTt|P144L|404|C11orf16|protein_coding|CODING|ENST00000525780|exon_11_8948487_8948721 0/1:99:212,0,255 . . . 11 8948615 rs2568076 G A NON_SYNONYMOUS_CODING C11orf16 MODERATE|MISSENSE|cCt/cTt|P144L|467|C11orf16|protein_coding|CODING|ENST00000326053|exon_11_8948487_8948721 0/1:99:212,0,255 . . . 11 8953850 rs149524010 T G NON_SYNONYMOUS_CODING C11orf16 MODERATE|MISSENSE|gaA/gaC|E2D|153|C11orf16|protein_coding|CODING|ENST00000526227|exon_11_8953689_8953873 . . . 0/1:99:245,0,171 11 8953850 rs149524010 T G NON_SYNONYMOUS_CODING C11orf16 MODERATE|MISSENSE|gaA/gaC|E2D|404|C11orf16|protein_coding|CODING|ENST00000525780|exon_11_8953689_8953873 . . . 0/1:99:245,0,171 11 8953850 rs149524010 T G NON_SYNONYMOUS_CODING C11orf16 MODERATE|MISSENSE|gaA/gaC|E2D|467|C11orf16|protein_coding|CODING|ENST00000326053|exon_11_8953689_8953873 . . . 0/1:99:245,0,171 11 9225326 rs74359608 T C NON_SYNONYMOUS_CODING DENND5A MODERATE|MISSENSE|aAt/aGt|N277S|1241|DENND5A|protein_coding|CODING|ENST00000530044|exon_11_9225207_9225864 0/1:99:221,0,255 . . . 11 9225326 rs74359608 T C NON_SYNONYMOUS_CODING DENND5A MODERATE|MISSENSE|aAt/aGt|N277S|1287|DENND5A|protein_coding|CODING|ENST00000328194|exon_11_9225207_9225864 0/1:99:221,0,255 . . . 11 10647977 rs74898367 T C NON_SYNONYMOUS_CODING MRVI1 MODERATE|MISSENSE|Aca/Gca|T211A|821|MRVI1|protein_coding|CODING|ENST00000527509|exon_11_10647513_10648130 . . 0/1:99:99,0,255 . 11 10647977 rs74898367 T C NON_SYNONYMOUS_CODING MRVI1 MODERATE|MISSENSE|Aca/Gca|T211A|821|MRVI1|protein_coding|CODING|ENST00000547195|exon_11_10647513_10648130 . . 0/1:99:99,0,255 . 11 10647977 rs74898367 T C NON_SYNONYMOUS_CODING MRVI1 MODERATE|MISSENSE|Aca/Gca|T211A|821|MRVI1|protein_coding|CODING|ENST00000552103|exon_11_10647513_10648130 . . 0/1:99:99,0,255 . 11 10647977 rs74898367 T C NON_SYNONYMOUS_CODING MRVI1 MODERATE|MISSENSE|Aca/Gca|T275A|885|MRVI1|protein_coding|CODING|ENST00000436272|exon_11_10647513_10648130 . . 0/1:99:99,0,255 . 11 10647977 rs74898367 T C NON_SYNONYMOUS_CODING MRVI1 MODERATE|MISSENSE|Aca/Gca|T276A|886|MRVI1|protein_coding|CODING|ENST00000308763|exon_11_10647513_10648130 . . 0/1:99:99,0,255 . 11 10647977 rs74898367 T C NON_SYNONYMOUS_CODING MRVI1 MODERATE|MISSENSE|Aca/Gca|T293A|903|MRVI1|protein_coding|CODING|ENST00000421747|exon_11_10647513_10648130 . . 0/1:99:99,0,255 . 11 10647977 rs74898367 T C NON_SYNONYMOUS_CODING MRVI1 MODERATE|MISSENSE|Aca/Gca|T294A|904|MRVI1|protein_coding|CODING|ENST00000531107|exon_11_10647513_10648130 . . 0/1:99:99,0,255 . 11 10647977 rs74898367 T C NON_SYNONYMOUS_CODING MRVI1 MODERATE|MISSENSE|Aca/Gca|T302A|912|MRVI1|protein_coding|CODING|ENST00000423302|exon_11_10647513_10648130 . . 0/1:99:99,0,255 . 11 12315175 rs148792670 G A NON_SYNONYMOUS_CODING MICALCL MODERATE|MISSENSE|cGg/cAg|R66Q|695|MICALCL|protein_coding|CODING|ENST00000256186|exon_11_12315108_12316404 . . 0/1:99:202,0,122 . 11 12315256 rs12574273 A C NON_SYNONYMOUS_CODING MICALCL MODERATE|MISSENSE|tAc/tCc|Y93S|695|MICALCL|protein_coding|CODING|ENST00000256186|exon_11_12315108_12316404 . . 0/1:99:124,0,188 . 11 12316085 rs3812753 T A NON_SYNONYMOUS_CODING MICALCL MODERATE|MISSENSE|gaT/gaA|D369E|695|MICALCL|protein_coding|CODING|ENST00000256186|exon_11_12315108_12316404 . . 0/1:99:128,0,135 . 11 12525924 rs200911218 G A NON_SYNONYMOUS_CODING PARVA MODERATE|MISSENSE|cGc/cAc|R149H|290|PARVA|protein_coding|CODING|ENST00000538608|exon_11_12525861_12525976 . . 0/1:99:229,0,210 . 11 12525924 rs200911218 G A NON_SYNONYMOUS_CODING PARVA MODERATE|MISSENSE|cGc/cAc|R166H|208|PARVA|protein_coding|CODING|ENST00000528916|exon_11_12525861_12525976 . . 0/1:99:229,0,210 . 11 12525924 rs200911218 G A NON_SYNONYMOUS_CODING PARVA MODERATE|MISSENSE|cGc/cAc|R202H|372|PARVA|protein_coding|CODING|ENST00000539723|exon_11_12525861_12525976 . . 0/1:99:229,0,210 . 11 12525924 rs200911218 G A NON_SYNONYMOUS_CODING PARVA MODERATE|MISSENSE|cGc/cAc|R202H|372|PARVA|protein_coding|CODING|ENST00000550549|exon_11_12525861_12525976 . . 0/1:99:229,0,210 . 11 12525924 rs200911218 G A NON_SYNONYMOUS_CODING PARVA MODERATE|MISSENSE|cGc/cAc|R242H|412|PARVA|protein_coding|CODING|ENST00000334956|exon_11_12525861_12525976 . . 0/1:99:229,0,210 . 11 15096718 . G C NON_SYNONYMOUS_CODING CALCB MODERATE|MISSENSE|aaG/aaC|K66N|127|CALCB|protein_coding|CODING|ENST00000324229|exon_11_15096607_15096744 . 0/1:99:194,0,255 . . 11 15096718 . G C NON_SYNONYMOUS_CODING CALCB MODERATE|MISSENSE|aaG/aaC|K66N|127|CALCB|protein_coding|CODING|ENST00000533448|exon_11_15096607_15096744 . 0/1:99:194,0,255 . . 11 15096718 . G C NON_SYNONYMOUS_CODING CALCB MODERATE|MISSENSE|aaG/aaC|K77N|138|CALCB|protein_coding|CODING|ENST00000523376|exon_11_15096607_15096744 . 0/1:99:194,0,255 . . 11 15170743 rs138418543 G A NON_SYNONYMOUS_CODING INSC MODERATE|MISSENSE|cGc/cAc|R55H|579|INSC|protein_coding|CODING|ENST00000379554|exon_11_15170676_15170776 0/1:99:255,0,228 . . . 11 15170743 rs138418543 G A NON_SYNONYMOUS_CODING INSC MODERATE|MISSENSE|cGc/cAc|R8H|307|INSC|protein_coding|CODING|ENST00000416761|exon_11_15170676_15170776 0/1:99:255,0,228 . . . 11 15170743 rs138418543 G A NON_SYNONYMOUS_CODING INSC MODERATE|MISSENSE|cGc/cAc|R8H|490|INSC|protein_coding|CODING|ENST00000424273|exon_11_15170676_15170776 0/1:99:255,0,228 . . . 11 15170743 rs138418543 G A NON_SYNONYMOUS_CODING INSC MODERATE|MISSENSE|cGc/cAc|R8H|490|INSC|protein_coding|CODING|ENST00000525218|exon_11_15170654_15170776 0/1:99:255,0,228 . . . 11 15170743 rs138418543 G A NON_SYNONYMOUS_CODING INSC MODERATE|MISSENSE|cGc/cAc|R8H|520|INSC|protein_coding|CODING|ENST00000528567|exon_11_15170648_15170776 0/1:99:255,0,228 . . . 11 15170743 rs138418543 G A NON_SYNONYMOUS_CODING INSC MODERATE|MISSENSE|cGc/cAc|R8H|532|INSC|protein_coding|CODING|ENST00000379556|exon_11_15170676_15170776 0/1:99:255,0,228 . . . 11 15170743 rs138418543 G A NON_SYNONYMOUS_CODING INSC MODERATE|MISSENSE|cGc/cAc|R8H|532|INSC|protein_coding|CODING|ENST00000530161|exon_11_15170654_15170776 0/1:99:255,0,228 . . . 11 17351747 . A C NON_SYNONYMOUS_CODING NUCB2 MODERATE|MISSENSE|aAt/aCt|N329T|390|NUCB2|protein_coding|CODING|ENST00000458064|exon_11_17351674_17351844 0/1:99:255,0,247 . . . 11 17351747 . A C NON_SYNONYMOUS_CODING NUCB2 MODERATE|MISSENSE|aAt/aCt|N359T|420|NUCB2|protein_coding|CODING|ENST00000323688|exon_11_17351674_17351844 0/1:99:255,0,247 . . . 11 17351747 . A C NON_SYNONYMOUS_CODING NUCB2 MODERATE|MISSENSE|aAt/aCt|N359T|420|NUCB2|protein_coding|CODING|ENST00000529010|exon_11_17351674_17351844 0/1:99:255,0,247 . . . 11 17591922 rs7112749 C T NON_SYNONYMOUS_CODING OTOG MODERATE|MISSENSE|aCg/aTg|T586M|2852|OTOG|protein_coding|CODING|ENST00000399397|exon_11_17591760_17591937 . . . 0/1:99:182,0,186 11 17591922 rs7112749 C T NON_SYNONYMOUS_CODING OTOG MODERATE|MISSENSE|aCg/aTg|T659M|2925|OTOG|protein_coding|CODING|ENST00000399391|exon_11_17591760_17591937 . . . 0/1:99:182,0,186 11 17635225 rs74727929 A C NON_SYNONYMOUS_CODING OTOG MODERATE|MISSENSE|Act/Cct|T1187P|1508|OTOG|protein_coding|CODING|ENST00000342528|exon_11_17635159_17635248 . . . 0/1:60:57,0,125 11 17635225 rs74727929 A C NON_SYNONYMOUS_CODING OTOG MODERATE|MISSENSE|Act/Cct|T2108P|2852|OTOG|protein_coding|CODING|ENST00000399397|exon_11_17635159_17635248 . . . 0/1:60:57,0,125 11 17635225 rs74727929 A C NON_SYNONYMOUS_CODING OTOG MODERATE|MISSENSE|Act/Cct|T2181P|2925|OTOG|protein_coding|CODING|ENST00000399391|exon_11_17635159_17635248 . . . 0/1:60:57,0,125 11 17655748 rs61743165 G A NON_SYNONYMOUS_CODING OTOG MODERATE|MISSENSE|cGc/cAc|R2406H|2852|OTOG|protein_coding|CODING|ENST00000399397|exon_11_17655616_17655828 . . . 0/1:73:170,0,70 11 17655748 rs61743165 G A NON_SYNONYMOUS_CODING OTOG MODERATE|MISSENSE|cGc/cAc|R2479H|2925|OTOG|protein_coding|CODING|ENST00000399391|exon_11_17655616_17655828 . . . 0/1:73:170,0,70 11 17667139 rs61997203 G C NON_SYNONYMOUS_CODING OTOG MODERATE|MISSENSE|aaG/aaC|K2769N|2852|OTOG|protein_coding|CODING|ENST00000399397|exon_11_17667111_17667190 . . 0/1:99:185,0,255 . 11 17667139 rs61997203 G C NON_SYNONYMOUS_CODING OTOG MODERATE|MISSENSE|aaG/aaC|K2842N|2925|OTOG|protein_coding|CODING|ENST00000399391|exon_11_17667111_17667190 . . 0/1:99:185,0,255 . 11 18034532 rs192881652 T C NON_SYNONYMOUS_CODING SERGEF MODERATE|MISSENSE|gAg/gGg|E9G|288|SERGEF|protein_coding|CODING|ENST00000528200|exon_11_18034498_18034575 0/1:99:106,0,101 . . . 11 18034532 rs192881652 T C NON_SYNONYMOUS_CODING SERGEF MODERATE|MISSENSE|gAg/gGg|E9G|458|SERGEF|protein_coding|CODING|ENST00000265965|exon_11_18034498_18034709 0/1:99:106,0,101 . . . 11 18047154 rs145855109 C T NON_SYNONYMOUS_CODING TPH1 MODERATE|MISSENSE|Gct/Act|A300T|444|TPH1|protein_coding|CODING|ENST00000250018|exon_11_18047122_18047248 . . . 0/1:99:210,0,246 11 18047154 rs145855109 C T NON_SYNONYMOUS_CODING TPH1 MODERATE|MISSENSE|Gct/Act|A300T|466|TPH1|protein_coding|CODING|ENST00000341556|exon_11_18047122_18047248 . . . 0/1:99:210,0,246 11 18127464 rs77233279 C T NON_SYNONYMOUS_CODING SAAL1 MODERATE|MISSENSE|gGa/gAa|G42E|208|SAAL1|protein_coding|CODING|ENST00000530180|exon_11_18127454_18127616 . . 0/1:99:198,0,255 . 11 18127464 rs77233279 C T NON_SYNONYMOUS_CODING SAAL1 MODERATE|MISSENSE|gGa/gAa|G42E|473|SAAL1|protein_coding|CODING|ENST00000300013|exon_11_18127454_18127629 . . 0/1:99:198,0,255 . 11 18127464 rs77233279 C T NON_SYNONYMOUS_CODING SAAL1 MODERATE|MISSENSE|gGa/gAa|G42E|474|SAAL1|protein_coding|CODING|ENST00000524803|exon_11_18127454_18127638 . . 0/1:99:198,0,255 . 11 18127464 rs77233279 C T NON_SYNONYMOUS_CODING SAAL1 MODERATE|MISSENSE|gGa/gAa|G42E|476|SAAL1|protein_coding|CODING|ENST00000529318|exon_11_18127454_18127634 . . 0/1:99:198,0,255 . 11 18127558 . CCGGCGGCGGCGGCG CCGGCGGCGGCGGCGGCG CODON_INSERTION SAAL1 MODERATE||-/CGC|-6R|208|SAAL1|protein_coding|CODING|ENST00000530180|exon_11_18127454_18127616 0/1:99:255,0,255 0/1:99:212,0,246 0/1:99:255,0,255 . 11 18127558 . CCGGCGGCGGCGGCG CCGGCGGCGGCGGCGGCG CODON_INSERTION SAAL1 MODERATE||-/CGC|-6R|473|SAAL1|protein_coding|CODING|ENST00000300013|exon_11_18127454_18127629 0/1:99:255,0,255 0/1:99:212,0,246 0/1:99:255,0,255 . 11 18127558 . CCGGCGGCGGCGGCG CCGGCGGCGGCGGCGGCG CODON_INSERTION SAAL1 MODERATE||-/CGC|-6R|474|SAAL1|protein_coding|CODING|ENST00000524803|exon_11_18127454_18127638 0/1:99:255,0,255 0/1:99:212,0,246 0/1:99:255,0,255 . 11 18127558 . CCGGCGGCGGCGGCG CCGGCGGCGGCGGCGGCG CODON_INSERTION SAAL1 MODERATE||-/CGC|-6R|476|SAAL1|protein_coding|CODING|ENST00000529318|exon_11_18127454_18127634 0/1:99:255,0,255 0/1:99:212,0,246 0/1:99:255,0,255 . 11 18637498 . CTCTTCTT CTCTT CODON_DELETION SPTY2D1 MODERATE||aag/-|K106-|352|SPTY2D1|protein_coding|CODING|ENST00000333429|exon_11_18636854_18637645 . 0/1:99:255,0,255 . . 11 18637498 . CTCTTCTT CTCTT CODON_DELETION SPTY2D1 MODERATE||aag/-|K106-|685|SPTY2D1|protein_coding|CODING|ENST00000336349|exon_11_18636110_18637645 . 0/1:99:255,0,255 . . 11 18728650 rs2289965 T C NON_SYNONYMOUS_CODING IGSF22 MODERATE|MISSENSE|Atc/Gtc|I1131V|1326|IGSF22|protein_coding|CODING|ENST00000513874|exon_11_18728461_18728760 . 1/1:99:255,57,0 . . 11 18762217 rs143710986 C T NON_SYNONYMOUS_CODING PTPN5 MODERATE|MISSENSE|cGt/cAt|R251H|533|PTPN5|protein_coding|CODING|ENST00000396167|exon_11_18762150_18762339 0/1:99:230,0,184 . . . 11 18762217 rs143710986 C T NON_SYNONYMOUS_CODING PTPN5 MODERATE|MISSENSE|cGt/cAt|R251H|533|PTPN5|protein_coding|CODING|ENST00000396170|exon_11_18762150_18762339 0/1:99:230,0,184 . . . 11 18762217 rs143710986 C T NON_SYNONYMOUS_CODING PTPN5 MODERATE|MISSENSE|cGt/cAt|R259H|541|PTPN5|protein_coding|CODING|ENST00000396168|exon_11_18762150_18762339 0/1:99:230,0,184 . . . 11 18762217 rs143710986 C T NON_SYNONYMOUS_CODING PTPN5 MODERATE|MISSENSE|cGt/cAt|R283H|565|PTPN5|protein_coding|CODING|ENST00000358540|exon_11_18762150_18762339 0/1:99:230,0,184 . . . 11 18762217 rs143710986 C T NON_SYNONYMOUS_CODING PTPN5 MODERATE|MISSENSE|cGt/cAt|R283H|565|PTPN5|protein_coding|CODING|ENST00000396171|exon_11_18762150_18762339 0/1:99:230,0,184 . . . 11 18762217 rs143710986 C T NON_SYNONYMOUS_CODING PTPN5 MODERATE|MISSENSE|cGt/cAt|R87H|369|PTPN5|protein_coding|CODING|ENST00000477854|exon_11_18762150_18762339 0/1:99:230,0,184 . . . 11 18764026 rs4757707 G C NON_SYNONYMOUS_CODING PTPN5 MODERATE|MISSENSE|Cca/Gca|P138A|533|PTPN5|protein_coding|CODING|ENST00000396167|exon_11_18763809_18764050 . 0/1:99:218,0,230 0/1:99:255,0,117 0/1:99:211,0,209 11 18764026 rs4757707 G C NON_SYNONYMOUS_CODING PTPN5 MODERATE|MISSENSE|Cca/Gca|P138A|533|PTPN5|protein_coding|CODING|ENST00000396170|exon_11_18763809_18764050 . 0/1:99:218,0,230 0/1:99:255,0,117 0/1:99:211,0,209 11 18764026 rs4757707 G C NON_SYNONYMOUS_CODING PTPN5 MODERATE|MISSENSE|Cca/Gca|P146A|541|PTPN5|protein_coding|CODING|ENST00000396168|exon_11_18763809_18764050 . 0/1:99:218,0,230 0/1:99:255,0,117 0/1:99:211,0,209 11 18764026 rs4757707 G C NON_SYNONYMOUS_CODING PTPN5 MODERATE|MISSENSE|Cca/Gca|P170A|565|PTPN5|protein_coding|CODING|ENST00000358540|exon_11_18763809_18764050 . 0/1:99:218,0,230 0/1:99:255,0,117 0/1:99:211,0,209 11 18764026 rs4757707 G C NON_SYNONYMOUS_CODING PTPN5 MODERATE|MISSENSE|Cca/Gca|P170A|565|PTPN5|protein_coding|CODING|ENST00000396171|exon_11_18763809_18764050 . 0/1:99:218,0,230 0/1:99:255,0,117 0/1:99:211,0,209 11 18955941 rs111448117 G T NON_SYNONYMOUS_CODING MRGPRX1 MODERATE|MISSENSE|Cgc/Agc|R131S|322|MRGPRX1|protein_coding|CODING|ENST00000302797|exon_11_18955360_18956556 . . . 0/1:99:255,0,164 11 18956196 rs78179510 C T NON_SYNONYMOUS_CODING MRGPRX1 MODERATE|MISSENSE|Gca/Aca|A46T|322|MRGPRX1|protein_coding|CODING|ENST00000302797|exon_11_18955360_18956556 0/1:99:194,0,255 . . . 11 19077904 rs11024970 T G NON_SYNONYMOUS_CODING MRGPRX2 MODERATE|MISSENSE|Aat/Cat|N16H|330|MRGPRX2|protein_coding|CODING|ENST00000329773|exon_11_19076002_19077974 . . 0/1:99:241,0,255 . 11 19914072 rs142341675 G A NON_SYNONYMOUS_CODING NAV2 MODERATE|MISSENSE|aGc/aAc|S224N|2365|NAV2|protein_coding|CODING|ENST00000360655|exon_11_19913980_19914140 . . 0/1:99:255,0,204 . 11 19914072 rs142341675 G A NON_SYNONYMOUS_CODING NAV2 MODERATE|MISSENSE|aGc/aAc|S240N|2417|NAV2|protein_coding|CODING|ENST00000527559|exon_11_19913980_19914140 . . 0/1:99:255,0,204 . 11 19914072 rs142341675 G A NON_SYNONYMOUS_CODING NAV2 MODERATE|MISSENSE|aGc/aAc|S242N|2419|NAV2|protein_coding|CODING|ENST00000540292|exon_11_19913980_19914140 . . 0/1:99:255,0,204 . 11 19914072 rs142341675 G A NON_SYNONYMOUS_CODING NAV2 MODERATE|MISSENSE|aGc/aAc|S288N|2429|NAV2|protein_coding|CODING|ENST00000349880|exon_11_19913980_19914140 . . 0/1:99:255,0,204 . 11 19914072 rs142341675 G A NON_SYNONYMOUS_CODING NAV2 MODERATE|MISSENSE|aGc/aAc|S288N|2432|NAV2|protein_coding|CODING|ENST00000396085|exon_11_19913980_19914140 . . 0/1:99:255,0,204 . 11 19914072 rs142341675 G A NON_SYNONYMOUS_CODING NAV2 MODERATE|MISSENSE|aGc/aAc|S311N|2488|NAV2|protein_coding|CODING|ENST00000396087|exon_11_19913980_19914140 . . 0/1:99:255,0,204 . 11 20070533 rs145171062 G A NON_SYNONYMOUS_CODING NAV2 MODERATE|MISSENSE|Gcc/Acc|A1324T|2365|NAV2|protein_coding|CODING|ENST00000360655|exon_11_20070274_20070741 . 0/1:99:174,0,242 . . 11 20070533 rs145171062 G A NON_SYNONYMOUS_CODING NAV2 MODERATE|MISSENSE|Gcc/Acc|A1340T|2417|NAV2|protein_coding|CODING|ENST00000527559|exon_11_20070274_20070741 . 0/1:99:174,0,242 . . 11 20070533 rs145171062 G A NON_SYNONYMOUS_CODING NAV2 MODERATE|MISSENSE|Gcc/Acc|A1342T|2419|NAV2|protein_coding|CODING|ENST00000540292|exon_11_20070274_20070741 . 0/1:99:174,0,242 . . 11 20070533 rs145171062 G A NON_SYNONYMOUS_CODING NAV2 MODERATE|MISSENSE|Gcc/Acc|A1388T|2429|NAV2|protein_coding|CODING|ENST00000349880|exon_11_20070274_20070741 . 0/1:99:174,0,242 . . 11 20070533 rs145171062 G A NON_SYNONYMOUS_CODING NAV2 MODERATE|MISSENSE|Gcc/Acc|A1388T|2432|NAV2|protein_coding|CODING|ENST00000396085|exon_11_20070274_20070741 . 0/1:99:174,0,242 . . 11 20070533 rs145171062 G A NON_SYNONYMOUS_CODING NAV2 MODERATE|MISSENSE|Gcc/Acc|A1411T|2488|NAV2|protein_coding|CODING|ENST00000396087|exon_11_20070274_20070741 . 0/1:99:174,0,242 . . 11 20070533 rs145171062 G A NON_SYNONYMOUS_CODING NAV2 MODERATE|MISSENSE|Gcc/Acc|A474T|1493|NAV2|protein_coding|CODING|ENST00000311043|exon_11_20070274_20070741 . 0/1:99:174,0,242 . . 11 20070533 rs145171062 G A NON_SYNONYMOUS_CODING NAV2 MODERATE|MISSENSE|Gcc/Acc|A474T|1493|NAV2|protein_coding|CODING|ENST00000533917|exon_11_20070274_20070741 . 0/1:99:174,0,242 . . 11 20070533 rs145171062 G A NON_SYNONYMOUS_CODING NAV2 MODERATE|MISSENSE|Gcc/Acc|A474T|814|NAV2|protein_coding|CODING|ENST00000525322|exon_11_20070274_20070741 . 0/1:99:174,0,242 . . 11 20070533 rs145171062 G A NON_SYNONYMOUS_CODING NAV2 MODERATE|MISSENSE|Gcc/Acc|A474T|815|NAV2|protein_coding|CODING|ENST00000536595|exon_11_20070274_20070741 . 0/1:99:174,0,242 . . 11 21581749 . G A NON_SYNONYMOUS_CODING NELL1 MODERATE|MISSENSE|Gcc/Acc|A544T|753|NELL1|protein_coding|CODING|ENST00000325319|exon_11_21581735_21581928 0/1:99:216,0,255 . . . 11 21581749 . G A NON_SYNONYMOUS_CODING NELL1 MODERATE|MISSENSE|Gcc/Acc|A554T|763|NELL1|protein_coding|CODING|ENST00000532434|exon_11_21581735_21581928 0/1:99:216,0,255 . . . 11 21581749 . G A NON_SYNONYMOUS_CODING NELL1 MODERATE|MISSENSE|Gcc/Acc|A601T|810|NELL1|protein_coding|CODING|ENST00000357134|exon_11_21581735_21581928 0/1:99:216,0,255 . . . 11 21581749 . G A NON_SYNONYMOUS_CODING NELL1 MODERATE|MISSENSE|Gcc/Acc|A629T|838|NELL1|protein_coding|CODING|ENST00000298925|exon_11_21581735_21581928 0/1:99:216,0,255 . . . 11 25098911 rs116821457 C T NON_SYNONYMOUS_CODING LUZP2 MODERATE|MISSENSE|Ccc/Tcc|P213S|260|LUZP2|protein_coding|CODING|ENST00000533227|exon_11_25098875_25098952 . 0/1:99:255,0,255 . . 11 25098911 rs116821457 C T NON_SYNONYMOUS_CODING LUZP2 MODERATE|MISSENSE|Ccc/Tcc|P299S|346|LUZP2|protein_coding|CODING|ENST00000336930|exon_11_25098875_25098952 . 0/1:99:255,0,255 . . 11 30516885 rs144495334 G A NON_SYNONYMOUS_CODING MPPED2 MODERATE|MISSENSE|tCg/tTg|S165L|277|MPPED2|protein_coding|CODING|ENST00000448418|exon_11_30516843_30517068 0/1:99:255,0,255 . . . 11 30516885 rs144495334 G A NON_SYNONYMOUS_CODING MPPED2 MODERATE|MISSENSE|tCg/tTg|S165L|294|MPPED2|protein_coding|CODING|ENST00000358117|exon_11_30516843_30517068 0/1:99:255,0,255 . . . 11 31451889 . G A NON_SYNONYMOUS_CODING DNAJC24 MODERATE|MISSENSE|Gtt/Att|V131I|149|DNAJC24|protein_coding|CODING|ENST00000465995|exon_11_31451818_31453396 0/1:99:191,0,255 . . . 11 33049341 rs34161108 G A NON_SYNONYMOUS_CODING DEPDC7 MODERATE|MISSENSE|Gca/Aca|A183T|502|DEPDC7|protein_coding|CODING|ENST00000311388|exon_11_33049232_33049359 . . 0/1:99:255,0,219 0/1:99:255,0,255 11 33049341 rs34161108 G A NON_SYNONYMOUS_CODING DEPDC7 MODERATE|MISSENSE|Gca/Aca|A192T|511|DEPDC7|protein_coding|CODING|ENST00000241051|exon_11_33049232_33049359 . . 0/1:99:255,0,219 0/1:99:255,0,255 11 33777334 rs1402954 C T NON_SYNONYMOUS_CODING FBXO3 MODERATE|MISSENSE|Gtt/Att|V108I|358|FBXO3|protein_coding|CODING|ENST00000526785|exon_11_33777317_33777521 . . . 0/1:99:255,0,255 11 33777334 rs1402954 C T NON_SYNONYMOUS_CODING FBXO3 MODERATE|MISSENSE|Gtt/Att|V216I|410|FBXO3|protein_coding|CODING|ENST00000530401|exon_11_33777317_33777521 . . . 0/1:99:255,0,255 11 33777334 rs1402954 C T NON_SYNONYMOUS_CODING FBXO3 MODERATE|MISSENSE|Gtt/Att|V221I|415|FBXO3|protein_coding|CODING|ENST00000448981|exon_11_33777317_33777521 . . . 0/1:99:255,0,255 11 33777334 rs1402954 C T NON_SYNONYMOUS_CODING FBXO3 MODERATE|MISSENSE|Gtt/Att|V221I|430|FBXO3|protein_coding|CODING|ENST00000534136|exon_11_33777317_33777521 . . . 0/1:99:255,0,255 11 33777334 rs1402954 C T NON_SYNONYMOUS_CODING FBXO3 MODERATE|MISSENSE|Gtt/Att|V221I|471|FBXO3|protein_coding|CODING|ENST00000265651|exon_11_33777317_33777521 . . . 0/1:99:255,0,255 11 34165053 rs36006049 G A NON_SYNONYMOUS_CODING NAT10 MODERATE|MISSENSE|Gcc/Acc|A911T|953|NAT10|protein_coding|CODING|ENST00000531159|exon_11_34164992_34165075 . 0/1:99:205,0,255 . . 11 34165053 rs36006049 G A NON_SYNONYMOUS_CODING NAT10 MODERATE|MISSENSE|Gcc/Acc|A983T|1025|NAT10|protein_coding|CODING|ENST00000257829|exon_11_34164992_34165075 . 0/1:99:205,0,255 . . 11 36484167 rs11033639 C T NON_SYNONYMOUS_CODING PRR5L MODERATE|MISSENSE|Ccc/Tcc|P257S|295|PRR5L|protein_coding|CODING|ENST00000311599|exon_11_36483892_36486753 . 0/1:99:238,0,221 . . 11 36484167 rs11033639 C T NON_SYNONYMOUS_CODING PRR5L MODERATE|MISSENSE|Ccc/Tcc|P330S|368|PRR5L|protein_coding|CODING|ENST00000378867|exon_11_36483892_36486754 . 0/1:99:238,0,221 . . 11 36484167 rs11033639 C T NON_SYNONYMOUS_CODING PRR5L MODERATE|MISSENSE|Ccc/Tcc|P330S|368|PRR5L|protein_coding|CODING|ENST00000530639|exon_11_36483892_36485194 . 0/1:99:238,0,221 . . 11 43465003 . G T NON_SYNONYMOUS_CODING TTC17 MODERATE|MISSENSE|Gca/Tca|A794S|1141|TTC17|protein_coding|CODING|ENST00000039989|exon_11_43464875_43465134 . . . 0/1:99:255,0,188 11 43465003 . G T NON_SYNONYMOUS_CODING TTC17 MODERATE|MISSENSE|Gca/Tca|A851S|956|TTC17|protein_coding|CODING|ENST00000299240|exon_11_43464875_43465134 . . . 0/1:99:255,0,188 11 43964060 . G T NON_SYNONYMOUS_CODING C11orf96 MODERATE|MISSENSE|cGg/cTg|R182L|435|C11orf96|protein_coding|CODING|ENST00000339446|exon_11_43963816_43964823 . 0/1:99:101,0,171 . . 11 44098924 rs147531492 G A NON_SYNONYMOUS_CODING ACCS MODERATE|MISSENSE|Gag/Aag|E218K|501|ACCS|protein_coding|CODING|ENST00000263776|exon_11_44098829_44098926 . . . 0/1:99:232,0,231 11 44104981 rs3107275 C T NON_SYNONYMOUS_CODING ACCS MODERATE|MISSENSE|cCc/cTc|P421L|501|ACCS|protein_coding|CODING|ENST00000263776|exon_11_44104974_44105127 0/1:99:255,0,216 1/1:99:255,93,0 . 0/1:99:243,0,141 11 44331569 . G T NON_SYNONYMOUS_CODING ALX4 MODERATE|MISSENSE|gCt/gAt|A15D|411|ALX4|protein_coding|CODING|ENST00000329255|exon_11_44331147_44331716 0/1:99:101,0,170 . . . 11 46339011 rs35652107 G A NON_SYNONYMOUS_CODING CREB3L1 MODERATE|MISSENSE|Gca/Aca|A323T|431|CREB3L1|protein_coding|CODING|ENST00000446415|exon_11_46338912_46339038 . . 0/1:99:165,0,247 . 11 46339011 rs35652107 G A NON_SYNONYMOUS_CODING CREB3L1 MODERATE|MISSENSE|Gca/Aca|A411T|519|CREB3L1|protein_coding|CODING|ENST00000288400|exon_11_46338912_46339038 . . 0/1:99:165,0,247 . 11 46339011 rs35652107 G A NON_SYNONYMOUS_CODING CREB3L1 MODERATE|MISSENSE|Gca/Aca|A411T|519|CREB3L1|protein_coding|CODING|ENST00000529193|exon_11_46338912_46339038 . . 0/1:99:165,0,247 . 11 46917501 rs118009068 G A NON_SYNONYMOUS_CODING LRP4 MODERATE|MISSENSE|Cgg/Tgg|R373W|1905|LRP4|protein_coding|CODING|ENST00000378623|exon_11_46917435_46917569 0/1:99:174,0,255 . . . 11 47236769 . C A NON_SYNONYMOUS_CODING DDB2 MODERATE|MISSENSE|Ctg/Atg|L28M|238|DDB2|protein_coding|CODING|ENST00000378600|exon_11_47236493_47236814 . 0/1:99:181,0,225 . . 11 47236769 . C A NON_SYNONYMOUS_CODING DDB2 MODERATE|MISSENSE|Ctg/Atg|L28M|244|DDB2|protein_coding|CODING|ENST00000378601|exon_11_47236493_47236814 . 0/1:99:181,0,225 . . 11 47236769 . C A NON_SYNONYMOUS_CODING DDB2 MODERATE|MISSENSE|Ctg/Atg|L28M|363|DDB2|protein_coding|CODING|ENST00000378603|exon_11_47236493_47236814 . 0/1:99:181,0,225 . . 11 47236769 . C A NON_SYNONYMOUS_CODING DDB2 MODERATE|MISSENSE|Ctg/Atg|L28M|427|DDB2|protein_coding|CODING|ENST00000256996|exon_11_47236493_47236814 . 0/1:99:181,0,225 . . 11 47371598 rs3729986 C T NON_SYNONYMOUS_CODING MYBPC3 MODERATE|MISSENSE|Gtg/Atg|V158M|1273|MYBPC3|protein_coding|CODING|ENST00000256993|exon_11_47371565_47371663 . 0/1:99:215,0,253 . . 11 47371598 rs3729986 C T NON_SYNONYMOUS_CODING MYBPC3 MODERATE|MISSENSE|Gtg/Atg|V158M|1274|MYBPC3|protein_coding|CODING|ENST00000399249|exon_11_47371565_47371663 . 0/1:99:215,0,253 . . 11 47371598 rs3729986 C T NON_SYNONYMOUS_CODING MYBPC3 MODERATE|MISSENSE|Gtg/Atg|V158M|1274|MYBPC3|protein_coding|CODING|ENST00000545968|exon_11_47371565_47371663 . 0/1:99:215,0,253 . . 11 47431764 rs35741412 G A NON_SYNONYMOUS_CODING SLC39A13 MODERATE|MISSENSE|cGg/cAg|R40Q|137|SLC39A13|protein_coding|CODING|ENST00000527091|exon_11_47431638_47431946 . . 0/1:99:161,0,174 . 11 47431764 rs35741412 G A NON_SYNONYMOUS_CODING SLC39A13 MODERATE|MISSENSE|cGg/cAg|R40Q|140|SLC39A13|protein_coding|CODING|ENST00000531974|exon_11_47431638_47431946 . . 0/1:99:161,0,174 . 11 47431764 rs35741412 G A NON_SYNONYMOUS_CODING SLC39A13 MODERATE|MISSENSE|cGg/cAg|R40Q|217|SLC39A13|protein_coding|CODING|ENST00000531419|exon_11_47431638_47431946 . . 0/1:99:161,0,174 . 11 47431764 rs35741412 G A NON_SYNONYMOUS_CODING SLC39A13 MODERATE|MISSENSE|cGg/cAg|R40Q|247|SLC39A13|protein_coding|CODING|ENST00000526614|exon_11_47431638_47431946 . . 0/1:99:161,0,174 . 11 47431764 rs35741412 G A NON_SYNONYMOUS_CODING SLC39A13 MODERATE|MISSENSE|cGg/cAg|R40Q|257|SLC39A13|protein_coding|CODING|ENST00000531865|exon_11_47431638_47431946 . . 0/1:99:161,0,174 . 11 47431764 rs35741412 G A NON_SYNONYMOUS_CODING SLC39A13 MODERATE|MISSENSE|cGg/cAg|R40Q|321|SLC39A13|protein_coding|CODING|ENST00000524928|exon_11_47431636_47431946 . . 0/1:99:161,0,174 . 11 47431764 rs35741412 G A NON_SYNONYMOUS_CODING SLC39A13 MODERATE|MISSENSE|cGg/cAg|R40Q|325|SLC39A13|protein_coding|CODING|ENST00000533076|exon_11_47431638_47431946 . . 0/1:99:161,0,174 . 11 47431764 rs35741412 G A NON_SYNONYMOUS_CODING SLC39A13 MODERATE|MISSENSE|cGg/cAg|R40Q|364|SLC39A13|protein_coding|CODING|ENST00000354884|exon_11_47431617_47431946 . . 0/1:99:161,0,174 . 11 47431764 rs35741412 G A NON_SYNONYMOUS_CODING SLC39A13 MODERATE|MISSENSE|cGg/cAg|R40Q|371|SLC39A13|protein_coding|CODING|ENST00000362021|exon_11_47431638_47431946 . . 0/1:99:161,0,174 . 11 47587452 rs11537751 C T NON_SYNONYMOUS_CODING PTPMT1 MODERATE|MISSENSE|tCg/tTg|S93L|151|PTPMT1|protein_coding|CODING|ENST00000426530|exon_11_47586982_47587538 . 0/1:99:141,0,215 . . 11 47587452 rs11537751 C T NON_SYNONYMOUS_CODING PTPMT1 MODERATE|MISSENSE|tCg/tTg|S93L|168|PTPMT1|protein_coding|CODING|ENST00000534775|exon_11_47587010_47587538 . 0/1:99:141,0,215 . . 11 47788731 rs112054219 G C NON_SYNONYMOUS_CODING FNBP4 MODERATE|MISSENSE|aCt/aGt|T37S|1017|FNBP4|protein_coding|CODING|ENST00000263773|exon_11_47788621_47788853 . . . 0/1:99:255,0,174 11 47848712 . A T NON_SYNONYMOUS_CODING NUP160 MODERATE|MISSENSE|cTc/cAc|L129H|482|NUP160|protein_coding|CODING|ENST00000426372|exon_11_47848627_47848746 . . . 0/1:99:166,0,221 11 48145375 rs1566734 A C NON_SYNONYMOUS_CODING PTPRJ MODERATE|MISSENSE|cAa/cCa|Q276P|1337|PTPRJ|protein_coding|CODING|ENST00000418331|exon_11_48145165_48145422 . 0/1:99:255,0,255 . . 11 48145375 rs1566734 A C NON_SYNONYMOUS_CODING PTPRJ MODERATE|MISSENSE|cAa/cCa|Q276P|424|PTPRJ|protein_coding|CODING|ENST00000278456|exon_11_48145165_48145422 . 0/1:99:255,0,255 . . 11 48145375 rs1566734 A C NON_SYNONYMOUS_CODING PTPRJ MODERATE|MISSENSE|cAa/cCa|Q276P|539|PTPRJ|protein_coding|CODING|ENST00000440289|exon_11_48145165_48145422 . 0/1:99:255,0,255 . . 11 48146622 rs1503185 G A NON_SYNONYMOUS_CODING PTPRJ MODERATE|MISSENSE|cGa/cAa|R326Q|1337|PTPRJ|protein_coding|CODING|ENST00000418331|exon_11_48146520_48146738 . 0/1:99:255,0,180 . . 11 48146622 rs1503185 G A NON_SYNONYMOUS_CODING PTPRJ MODERATE|MISSENSE|cGa/cAa|R326Q|424|PTPRJ|protein_coding|CODING|ENST00000278456|exon_11_48146520_48146738 . 0/1:99:255,0,180 . . 11 48146622 rs1503185 G A NON_SYNONYMOUS_CODING PTPRJ MODERATE|MISSENSE|cGa/cAa|R326Q|539|PTPRJ|protein_coding|CODING|ENST00000440289|exon_11_48146520_48146738 . 0/1:99:255,0,180 . . 11 48238549 rs11606506 G A NON_SYNONYMOUS_CODING OR4B1 MODERATE|MISSENSE|tGc/tAc|C63Y|309|OR4B1|protein_coding|CODING|ENST00000309562|exon_11_48238344_48239314 . 0/1:99:253,0,255 0/1:99:241,0,240 . 11 48387584 rs75821991 A T NON_SYNONYMOUS_CODING OR4C5 MODERATE|MISSENSE|gTg/gAg|V145E|326|OR4C5|protein_coding|CODING|ENST00000319813|exon_11_48387037_48388017 . . . 0/1:57:54,0,215 11 48387591 rs75297075 A G NON_SYNONYMOUS_CODING OR4C5 MODERATE|MISSENSE|Tgc/Cgc|C143R|326|OR4C5|protein_coding|CODING|ENST00000319813|exon_11_48387037_48388017 . . . 0/1:83:80,0,220 11 48387737 rs73460780 G C NON_SYNONYMOUS_CODING OR4C5 MODERATE|MISSENSE|tCc/tGc|S94C|326|OR4C5|protein_coding|CODING|ENST00000319813|exon_11_48387037_48388017 0/1:61:58,0,255 . . . 11 48387757 rs74557904 A C NON_SYNONYMOUS_CODING OR4C5 MODERATE|MISSENSE|ttT/ttG|F87L|326|OR4C5|protein_coding|CODING|ENST00000319813|exon_11_48387037_48388017 0/1:64:61,0,255 . . . 11 49208267 rs75940285 G A NON_SYNONYMOUS_CODING FOLH1 MODERATE|MISSENSE|Cgg/Tgg|R175W|704|FOLH1|protein_coding|CODING|ENST00000533034|exon_11_49208196_49208321 . 0/1:57:54,0,255 . . 11 49208267 rs75940285 G A NON_SYNONYMOUS_CODING FOLH1 MODERATE|MISSENSE|Cgg/Tgg|R175W|735|FOLH1|protein_coding|CODING|ENST00000340334|exon_11_49208196_49208321 . 0/1:57:54,0,255 . . 11 49208267 rs75940285 G A NON_SYNONYMOUS_CODING FOLH1 MODERATE|MISSENSE|Cgg/Tgg|R190W|544|FOLH1|protein_coding|CODING|ENST00000389724|exon_11_49208196_49208321 . 0/1:57:54,0,255 . . 11 49208267 rs75940285 G A NON_SYNONYMOUS_CODING FOLH1 MODERATE|MISSENSE|Cgg/Tgg|R190W|719|FOLH1|protein_coding|CODING|ENST00000356696|exon_11_49208196_49208321 . 0/1:57:54,0,255 . . 11 49208267 rs75940285 G A NON_SYNONYMOUS_CODING FOLH1 MODERATE|MISSENSE|Cgg/Tgg|R190W|750|FOLH1|protein_coding|CODING|ENST00000256999|exon_11_49208196_49208321 . 0/1:57:54,0,255 . . 11 51411740 rs35083184 A T NON_SYNONYMOUS_CODING OR4A5 MODERATE|MISSENSE|cTa/cAa|L219Q|315|OR4A5|protein_coding|CODING|ENST00000319760|exon_11_51411378_51412448 0/1:99:255,0,255 . . . 11 51412327 rs56302591 T A NON_SYNONYMOUS_CODING OR4A5 MODERATE|MISSENSE|aaA/aaT|K23N|315|OR4A5|protein_coding|CODING|ENST00000319760|exon_11_51411378_51412448 0/1:99:255,0,255 . . . 11 51515985 rs113759681 T A NON_SYNONYMOUS_CODING OR4C46 MODERATE|MISSENSE|cTc/cAc|L235H|309|OR4C46|protein_coding|CODING|ENST00000328188|exon_11_51515282_51516211 . . . 0/1:99:146,0,255 11 55029787 rs12799381 G A NON_SYNONYMOUS_CODING TRIM48 MODERATE|MISSENSE|cGa/cAa|R15Q|224|TRIM48|protein_coding|CODING|ENST00000417545|exon_11_55029658_55029787 0/1:99:255,0,255 . . . 11 55032545 . A C NON_SYNONYMOUS_CODING TRIM48 MODERATE|MISSENSE|Ata/Cta|I72L|224|TRIM48|protein_coding|CODING|ENST00000417545|exon_11_55032376_55032790 . . 1/1:10:53,6,0 . 11 55111500 rs117538213 T C NON_SYNONYMOUS_CODING OR4A16 MODERATE|MISSENSE|aTt/aCt|I275T|328|OR4A16|protein_coding|CODING|ENST00000314721|exon_11_55110627_55111707 . 0/1:99:255,0,228 . . 11 55322638 rs12225462 C T NON_SYNONYMOUS_CODING OR4C15 MODERATE|MISSENSE|Cgc/Tgc|R286C|370|OR4C15|protein_coding|CODING|ENST00000314644|exon_11_55321783_55322895 . 0/1:99:242,0,255 1/1:99:255,72,0 . 11 55418693 rs11230541 T C NON_SYNONYMOUS_CODING OR4S2 MODERATE|MISSENSE|tTt/tCt|F105S|311|OR4S2|protein_coding|CODING|ENST00000312422|exon_11_55418380_55419315 . 0/1:99:255,0,255 1/1:99:255,96,0 . 11 55563336 rs76383258 A T NON_SYNONYMOUS_CODING OR5D14 MODERATE|MISSENSE|cAg/cTg|Q102L|314|OR5D14|protein_coding|CODING|ENST00000335605|exon_11_55563032_55563976 . 0/1:99:255,0,255 1/1:99:255,135,0 . 11 55563602 rs68042892 G A NON_SYNONYMOUS_CODING OR5D14 MODERATE|MISSENSE|Ggc/Agc|G191S|314|OR5D14|protein_coding|CODING|ENST00000335605|exon_11_55563032_55563976 0/1:99:255,0,255 . . . 11 55563738 rs67863827 G A NON_SYNONYMOUS_CODING OR5D14 MODERATE|MISSENSE|cGc/cAc|R236H|314|OR5D14|protein_coding|CODING|ENST00000335605|exon_11_55563032_55563976 0/1:99:204,0,255 . . . 11 55579102 rs34961497 C T NON_SYNONYMOUS_CODING OR5L1 MODERATE|MISSENSE|Cgg/Tgg|R54W|311|OR5L1|protein_coding|CODING|ENST00000333973|exon_11_55578854_55579952 0/1:99:255,0,255 . . . 11 55579801 rs12790505 T C NON_SYNONYMOUS_CODING OR5L1 MODERATE|MISSENSE|Tct/Cct|S287P|311|OR5L1|protein_coding|CODING|ENST00000333973|exon_11_55578854_55579952 0/1:99:229,0,245 . . . 11 55594869 rs56711116 G A NON_SYNONYMOUS_CODING OR5L2 MODERATE|MISSENSE|Gtg/Atg|V59M|311|OR5L2|protein_coding|CODING|ENST00000378397|exon_11_55594695_55595630 0/1:99:255,0,248 . . . 11 55595115 rs71490506 C T NON_SYNONYMOUS_CODING OR5L2 MODERATE|MISSENSE|Cgt/Tgt|R141C|311|OR5L2|protein_coding|CODING|ENST00000378397|exon_11_55594695_55595630 0/1:68:65,0,255 . . . 11 55595116 rs75822385 G C NON_SYNONYMOUS_CODING OR5L2 MODERATE|MISSENSE|cGt/cCt|R141P|311|OR5L2|protein_coding|CODING|ENST00000378397|exon_11_55594695_55595630 0/1:78:75,0,255 . . . 11 55653617 rs144396749 A C NON_SYNONYMOUS_CODING SPRYD5 MODERATE|MISSENSE|Atg/Ctg|M144L|452|SPRYD5|protein_coding|CODING|ENST00000449290|exon_11_55653599_55653694 . 0/1:99:255,0,255 . . 11 55681130 rs34573569 A T NON_SYNONYMOUS_CODING OR5W2 MODERATE|MISSENSE|tTt/tAt|F310Y|310|OR5W2|protein_coding|CODING|ENST00000344514|exon_11_55681126_55682058 0/1:99:255,0,255 . . . 11 55681566 rs61749302 G A NON_SYNONYMOUS_CODING OR5W2 MODERATE|MISSENSE|Cgc/Tgc|R165C|310|OR5W2|protein_coding|CODING|ENST00000344514|exon_11_55681126_55682058 0/1:99:255,0,189 . . . 11 55703728 rs4367963 A G NON_SYNONYMOUS_CODING OR5I1 MODERATE|MISSENSE|tTg/tCg|L50S|314|OR5I1|protein_coding|CODING|ENST00000301532|exon_11_55702932_55703876 0/1:99:255,0,255 . . . 11 55761528 rs35607186 T C NON_SYNONYMOUS_CODING OR5F1 MODERATE|MISSENSE|Aca/Gca|T192A|314|OR5F1|protein_coding|CODING|ENST00000278409|exon_11_55761157_55762101 0/1:99:255,0,232 . . . 11 55761605 rs145426776 A G NON_SYNONYMOUS_CODING OR5F1 MODERATE|MISSENSE|tTg/tCg|L166S|314|OR5F1|protein_coding|CODING|ENST00000278409|exon_11_55761157_55762101 . . . 0/1:99:213,0,255 11 55798421 rs141059768 A G NON_SYNONYMOUS_CODING OR5AS1 MODERATE|MISSENSE|cAt/cGt|H176R|324|OR5AS1|protein_coding|CODING|ENST00000313555|exon_11_55797895_55798869 0/1:99:253,0,255 . . . 11 55889987 rs7107077 C A NON_SYNONYMOUS_CODING OR8H3 MODERATE|MISSENSE|Cta/Ata|L47I|312|OR8H3|protein_coding|CODING|ENST00000313472|exon_11_55889849_55890787 . 0/1:99:255,0,147 . . 11 55890732 rs11606538 G A NON_SYNONYMOUS_CODING OR8H3 MODERATE|MISSENSE|aGa/aAa|R295K|312|OR8H3|protein_coding|CODING|ENST00000313472|exon_11_55889849_55890787 . 0/1:99:254,0,255 0/1:99:255,0,255 . 11 55927763 rs79004948 C T NON_SYNONYMOUS_CODING OR8K5 MODERATE|MISSENSE|Gaa/Aaa|E11K|307|OR8K5|protein_coding|CODING|ENST00000313447|exon_11_55926870_55927793 0/1:99:255,0,255 . . . 11 56058535 rs11600896 C T NON_SYNONYMOUS_CODING OR8H1 MODERATE|MISSENSE|Ggt/Agt|G2S|311|OR8H1|protein_coding|CODING|ENST00000313022|exon_11_56057529_56058566 . 0/1:99:255,0,255 0/1:99:255,0,225 . 11 56143424 rs12788990 A G NON_SYNONYMOUS_CODING OR8U1 MODERATE|MISSENSE|Ata/Gta|I109V|309|OR8U1|protein_coding|CODING|ENST00000302270|exon_11_56143100_56144029 0/1:99:255,0,255 . . . 11 56143715 rs78460947 A G NON_SYNONYMOUS_CODING OR8U1 MODERATE|MISSENSE|Atg/Gtg|M206V|309|OR8U1|protein_coding|CODING|ENST00000302270|exon_11_56143100_56144029 . 0/1:99:200,0,208 . . 11 56143968 rs72925530 A G NON_SYNONYMOUS_CODING OR8U1 MODERATE|MISSENSE|tAt/tGt|Y290C|309|OR8U1|protein_coding|CODING|ENST00000302270|exon_11_56143100_56144029 0/1:99:194,0,255 . . . 11 56185224 rs12785840 A G NON_SYNONYMOUS_CODING OR5R1 MODERATE|MISSENSE|aTc/aCc|I162T|324|OR5R1|protein_coding|CODING|ENST00000312253|exon_11_56184734_56185708 0/1:99:255,0,255 . . . 11 56431834 rs56067375 A G NON_SYNONYMOUS_CODING OR5AR1 MODERATE|MISSENSE|Atc/Gtc|I225V|310|OR5AR1|protein_coding|CODING|ENST00000302969|exon_11_56431138_56432163 0/1:99:255,0,255 . . . 11 56510623 rs513873 A G NON_SYNONYMOUS_CODING OR9G4 MODERATE|MISSENSE|gTa/gCa|V222A|327|OR9G4|protein_coding|CODING|ENST00000302957|exon_11_56510303_56511287 0/1:99:179,0,235 0/1:99:255,0,229 0/1:99:255,0,255 0/1:99:232,0,255 11 57068494 rs139208640 G A NON_SYNONYMOUS_CODING TNKS1BP1 MODERATE|MISSENSE|Cgc/Tgc|R1665C|1729|TNKS1BP1|protein_coding|CODING|ENST00000358252|exon_11_57068358_57068515 . . 0/1:99:135,0,191 . 11 57068494 rs139208640 G A NON_SYNONYMOUS_CODING TNKS1BP1 MODERATE|MISSENSE|Cgc/Tgc|R1665C|1729|TNKS1BP1|protein_coding|CODING|ENST00000532437|exon_11_57068358_57068515 . . 0/1:99:135,0,191 . 11 57076820 rs78489201 T G NON_SYNONYMOUS_CODING TNKS1BP1 MODERATE|MISSENSE|tAt/tCt|Y1122S|1729|TNKS1BP1|protein_coding|CODING|ENST00000358252|exon_11_57075869_57078030 . . . 0/1:99:204,0,217 11 57076820 rs78489201 T G NON_SYNONYMOUS_CODING TNKS1BP1 MODERATE|MISSENSE|tAt/tCt|Y1122S|1729|TNKS1BP1|protein_coding|CODING|ENST00000532437|exon_11_57075869_57078030 . . . 0/1:99:204,0,217 11 57087983 rs34448143 C G NON_SYNONYMOUS_CODING TNKS1BP1 MODERATE|MISSENSE|Gca/Cca|A100P|142|TNKS1BP1|protein_coding|CODING|ENST00000527207|exon_11_57087851_57088186 0/1:99:209,0,191 . . . 11 57087983 rs34448143 C G NON_SYNONYMOUS_CODING TNKS1BP1 MODERATE|MISSENSE|Gca/Cca|A100P|1729|TNKS1BP1|protein_coding|CODING|ENST00000358252|exon_11_57087553_57088186 0/1:99:209,0,191 . . . 11 57087983 rs34448143 C G NON_SYNONYMOUS_CODING TNKS1BP1 MODERATE|MISSENSE|Gca/Cca|A100P|1729|TNKS1BP1|protein_coding|CODING|ENST00000532437|exon_11_57087553_57088186 0/1:99:209,0,191 . . . 11 57146225 rs34108746 A G NON_SYNONYMOUS_CODING PRG3 MODERATE|MISSENSE|Tat/Cat|Y146H|225|PRG3|protein_coding|CODING|ENST00000287143|exon_11_57146154_57146285 . . . 0/1:99:235,0,238 11 57259193 rs35730224 C G NON_SYNONYMOUS_CODING SLC43A1 MODERATE|MISSENSE|gaG/gaC|E338D|559|SLC43A1|protein_coding|CODING|ENST00000278426|exon_11_57259189_57259335 . 0/1:99:229,0,245 . . 11 57259193 rs35730224 C G NON_SYNONYMOUS_CODING SLC43A1 MODERATE|MISSENSE|gaG/gaC|E338D|559|SLC43A1|protein_coding|CODING|ENST00000528450|exon_11_57259189_57259335 . 0/1:99:229,0,245 . . 11 57466491 rs148944485 C T NON_SYNONYMOUS_CODING ZDHHC5 MODERATE|MISSENSE|cCc/cTc|P475L|662|ZDHHC5|protein_coding|CODING|ENST00000527985|exon_11_57466031_57466890 . . . 0/1:99:199,0,210 11 57466491 rs148944485 C T NON_SYNONYMOUS_CODING ZDHHC5 MODERATE|MISSENSE|cCc/cTc|P528L|715|ZDHHC5|protein_coding|CODING|ENST00000287169|exon_11_57466031_57466890 . . . 0/1:99:199,0,210 11 57472534 rs147514975 A C NON_SYNONYMOUS_CODING MED19 MODERATE|MISSENSE|Tct/Gct|S129A|194|MED19|protein_coding|CODING|ENST00000337672|exon_11_57472445_57472701 . 0/1:99:255,0,255 . . 11 57472534 rs147514975 A C NON_SYNONYMOUS_CODING MED19 MODERATE|MISSENSE|Tct/Gct|S129A|244|MED19|protein_coding|CODING|ENST00000431606|exon_11_57472445_57472701 . 0/1:99:255,0,255 . . 11 57982635 rs143246332 G A NON_SYNONYMOUS_CODING OR1S1 MODERATE|MISSENSE|tGc/tAc|C140Y|325|OR1S1|protein_coding|CODING|ENST00000309433|exon_11_57982217_57983195 . . 0/1:99:255,0,242 . 11 58206703 rs118148210 C T NON_SYNONYMOUS_CODING OR5B12 MODERATE|MISSENSE|Gcc/Acc|A308T|314|OR5B12|protein_coding|CODING|ENST00000302572|exon_11_58206593_58207646 . . . 0/1:99:255,0,205 11 58604806 rs76354468 T A NON_SYNONYMOUS_CODING GLYATL2 MODERATE|MISSENSE|aAa/aTa|K84I|294|GLYATL2|protein_coding|CODING|ENST00000287275|exon_11_58604744_58604870 . 0/1:99:255,0,255 0/1:99:255,0,255 . 11 58604806 rs76354468 T A NON_SYNONYMOUS_CODING GLYATL2 MODERATE|MISSENSE|aAa/aTa|K84I|294|GLYATL2|protein_coding|CODING|ENST00000532258|exon_11_58604744_58604870 . 0/1:99:255,0,255 0/1:99:255,0,255 . 11 58893761 rs17153376 C G NON_SYNONYMOUS_CODING FAM111B MODERATE|MISSENSE|Ccc/Gcc|P701A|704|FAM111B|protein_coding|CODING|ENST00000411426|exon_11_58891652_58894883 0/1:99:255,0,255 . . . 11 58893761 rs17153376 C G NON_SYNONYMOUS_CODING FAM111B MODERATE|MISSENSE|Ccc/Gcc|P701A|704|FAM111B|protein_coding|CODING|ENST00000529618|exon_11_58891652_58893909 0/1:99:255,0,255 . . . 11 58893761 rs17153376 C G NON_SYNONYMOUS_CODING FAM111B MODERATE|MISSENSE|Ccc/Gcc|P731A|734|FAM111B|protein_coding|CODING|ENST00000343597|exon_11_58891652_58894867 0/1:99:255,0,255 . . . 11 59190120 rs17153691 A G NON_SYNONYMOUS_CODING OR5A2 MODERATE|MISSENSE|Ttt/Ctt|F103L|324|OR5A2|protein_coding|CODING|ENST00000302040|exon_11_59189416_59190449 0/1:99:255,0,255 . . . 11 59282861 rs17501584 A G NON_SYNONYMOUS_CODING OR4D9 MODERATE|MISSENSE|cAg/cGg|Q159R|314|OR4D9|protein_coding|CODING|ENST00000329328|exon_11_59282386_59283330 . . 1/1:99:255,105,0 . 11 59807978 rs79964989 G A NON_SYNONYMOUS_CODING PLAC1L MODERATE|MISSENSE|Ggt/Agt|G16S|158|PLAC1L|protein_coding|CODING|ENST00000278855|exon_11_59807748_59807996 . . 0/1:99:255,0,227 . 11 59949058 rs61742546 A G NON_SYNONYMOUS_CODING MS4A6A MODERATE|MISSENSE|aTt/aCt|I48T|114|MS4A6A|protein_coding|CODING|ENST00000533023|exon_11_59949054_59949214 . . 0/1:99:244,0,216 . 11 59949058 rs61742546 A G NON_SYNONYMOUS_CODING MS4A6A MODERATE|MISSENSE|aTt/aCt|I48T|141|MS4A6A|protein_coding|CODING|ENST00000532169|exon_11_59949054_59949214 . . 0/1:99:244,0,216 . 11 59949058 rs61742546 A G NON_SYNONYMOUS_CODING MS4A6A MODERATE|MISSENSE|aTt/aCt|I48T|178|MS4A6A|protein_coding|CODING|ENST00000420732|exon_11_59949054_59949214 . . 0/1:99:244,0,216 . 11 59949058 rs61742546 A G NON_SYNONYMOUS_CODING MS4A6A MODERATE|MISSENSE|aTt/aCt|I48T|180|MS4A6A|protein_coding|CODING|ENST00000426738|exon_11_59949054_59949214 . . 0/1:99:244,0,216 . 11 59949058 rs61742546 A G NON_SYNONYMOUS_CODING MS4A6A MODERATE|MISSENSE|aTt/aCt|I48T|225|MS4A6A|protein_coding|CODING|ENST00000528851|exon_11_59949054_59949214 . . 0/1:99:244,0,216 . 11 59949058 rs61742546 A G NON_SYNONYMOUS_CODING MS4A6A MODERATE|MISSENSE|aTt/aCt|I48T|248|MS4A6A|protein_coding|CODING|ENST00000323961|exon_11_59949054_59949214 . . 0/1:99:244,0,216 . 11 59949058 rs61742546 A G NON_SYNONYMOUS_CODING MS4A6A MODERATE|MISSENSE|aTt/aCt|I48T|248|MS4A6A|protein_coding|CODING|ENST00000530839|exon_11_59949054_59949214 . . 0/1:99:244,0,216 . 11 59949058 rs61742546 A G NON_SYNONYMOUS_CODING MS4A6A MODERATE|MISSENSE|aTt/aCt|I76T|100|MS4A6A|protein_coding|CODING|ENST00000534596|exon_11_59949054_59949214 . . 0/1:99:244,0,216 . 11 59949058 rs61742546 A G NON_SYNONYMOUS_CODING MS4A6A MODERATE|MISSENSE|aTt/aCt|I76T|253|MS4A6A|protein_coding|CODING|ENST00000412309|exon_11_59949054_59949214 . . 0/1:99:244,0,216 . 11 59949058 rs61742546 A G NON_SYNONYMOUS_CODING MS4A6A MODERATE|MISSENSE|aTt/aCt|I76T|276|MS4A6A|protein_coding|CODING|ENST00000529054|exon_11_59949054_59949214 . . 0/1:99:244,0,216 . 11 59949058 rs61742546 A G NON_SYNONYMOUS_CODING MS4A6A MODERATE|MISSENSE|aTt/aCt|I76T|76|MS4A6A|protein_coding|CODING|ENST00000531531|exon_11_59949054_59949214 . . 0/1:99:244,0,216 . 11 60197299 rs34169848 G A NON_SYNONYMOUS_CODING MS4A5 MODERATE|MISSENSE|gGg/gAg|G51E|200|MS4A5|protein_coding|CODING|ENST00000300190|exon_11_60197062_60197300 . . 1/1:99:255,96,0 . 11 60531315 rs202159539 C T NON_SYNONYMOUS_CODING MS4A15 MODERATE|MISSENSE|Cca/Tca|P37S|199|MS4A15|protein_coding|CODING|ENST00000528170|exon_11_60531179_60531431 . 0/1:99:184,0,223 . . 11 60531315 rs202159539 C T NON_SYNONYMOUS_CODING MS4A15 MODERATE|MISSENSE|Cca/Tca|P37S|240|MS4A15|protein_coding|CODING|ENST00000405633|exon_11_60531179_60531431 . 0/1:99:184,0,223 . . 11 60689534 rs75070807 C T NON_SYNONYMOUS_CODING TMEM109 MODERATE|MISSENSE|gCc/gTc|A210V|243|TMEM109|protein_coding|CODING|ENST00000227525|exon_11_60689246_60690915 . . . 0/1:99:104,0,187 11 60689534 rs75070807 C T NON_SYNONYMOUS_CODING TMEM109 MODERATE|MISSENSE|gCc/gTc|A210V|243|TMEM109|protein_coding|CODING|ENST00000536171|exon_11_60689246_60690848 . . . 0/1:99:104,0,187 11 60703882 rs61755079 G A NON_SYNONYMOUS_CODING TMEM132A MODERATE|MISSENSE|Gtg/Atg|V859M|1023|TMEM132A|protein_coding|CODING|ENST00000453848|exon_11_60703336_60704495 . . 0/1:99:255,0,237 . 11 60703882 rs61755079 G A NON_SYNONYMOUS_CODING TMEM132A MODERATE|MISSENSE|Gtg/Atg|V860M|1024|TMEM132A|protein_coding|CODING|ENST00000005286|exon_11_60703336_60704631 . . 0/1:99:255,0,237 . 11 60776209 rs11230563 C T NON_SYNONYMOUS_CODING CD6 MODERATE|MISSENSE|Cgg/Tgg|R225W|277|CD6|protein_coding|CODING|ENST00000542157|exon_11_60776006_60776317 . 0/1:99:205,0,255 0/1:99:245,0,215 . 11 60776209 rs11230563 C T NON_SYNONYMOUS_CODING CD6 MODERATE|MISSENSE|Cgg/Tgg|R225W|421|CD6|protein_coding|CODING|ENST00000433107|exon_11_60776006_60776317 . 0/1:99:205,0,255 0/1:99:245,0,215 . 11 60776209 rs11230563 C T NON_SYNONYMOUS_CODING CD6 MODERATE|MISSENSE|Cgg/Tgg|R225W|592|CD6|protein_coding|CODING|ENST00000452451|exon_11_60776006_60776317 . 0/1:99:205,0,255 0/1:99:245,0,215 . 11 60776209 rs11230563 C T NON_SYNONYMOUS_CODING CD6 MODERATE|MISSENSE|Cgg/Tgg|R225W|595|CD6|protein_coding|CODING|ENST00000346437|exon_11_60776006_60776317 . 0/1:99:205,0,255 0/1:99:245,0,215 . 11 60776209 rs11230563 C T NON_SYNONYMOUS_CODING CD6 MODERATE|MISSENSE|Cgg/Tgg|R225W|601|CD6|protein_coding|CODING|ENST00000352009|exon_11_60776006_60776317 . 0/1:99:205,0,255 0/1:99:245,0,215 . 11 60776209 rs11230563 C T NON_SYNONYMOUS_CODING CD6 MODERATE|MISSENSE|Cgg/Tgg|R225W|636|CD6|protein_coding|CODING|ENST00000344028|exon_11_60776006_60776317 . 0/1:99:205,0,255 0/1:99:245,0,215 . 11 60776209 rs11230563 C T NON_SYNONYMOUS_CODING CD6 MODERATE|MISSENSE|Cgg/Tgg|R225W|668|CD6|protein_coding|CODING|ENST00000313421|exon_11_60776006_60776317 . 0/1:99:205,0,255 0/1:99:245,0,215 . 11 60777073 rs12360861 G A NON_SYNONYMOUS_CODING CD6 MODERATE|MISSENSE|Gct/Act|A271T|592|CD6|protein_coding|CODING|ENST00000452451|exon_11_60777044_60777346 . 0/1:99:127,0,218 0/1:99:157,0,255 . 11 60777073 rs12360861 G A NON_SYNONYMOUS_CODING CD6 MODERATE|MISSENSE|Gct/Act|A271T|595|CD6|protein_coding|CODING|ENST00000346437|exon_11_60777044_60777346 . 0/1:99:127,0,218 0/1:99:157,0,255 . 11 60777073 rs12360861 G A NON_SYNONYMOUS_CODING CD6 MODERATE|MISSENSE|Gct/Act|A271T|601|CD6|protein_coding|CODING|ENST00000352009|exon_11_60777044_60777346 . 0/1:99:127,0,218 0/1:99:157,0,255 . 11 60777073 rs12360861 G A NON_SYNONYMOUS_CODING CD6 MODERATE|MISSENSE|Gct/Act|A271T|636|CD6|protein_coding|CODING|ENST00000344028|exon_11_60777044_60777346 . 0/1:99:127,0,218 0/1:99:157,0,255 . 11 60777073 rs12360861 G A NON_SYNONYMOUS_CODING CD6 MODERATE|MISSENSE|Gct/Act|A271T|668|CD6|protein_coding|CODING|ENST00000313421|exon_11_60777044_60777346 . 0/1:99:127,0,218 0/1:99:157,0,255 . 11 60886913 rs2241002 C T NON_SYNONYMOUS_CODING CD5 MODERATE|MISSENSE|cCa/cTa|P224L|495|CD5|protein_coding|CODING|ENST00000347785|exon_11_60886706_60887047 0/1:99:188,0,222 . . . 11 60899815 rs2232142 A T NON_SYNONYMOUS_CODING VPS37C MODERATE|MISSENSE|gTc/gAc|V182D|322|VPS37C|protein_coding|CODING|ENST00000540084|exon_11_60899412_60900011 . . . 0/1:95:92,0,144 11 60899815 rs2232142 A T NON_SYNONYMOUS_CODING VPS37C MODERATE|MISSENSE|gTc/gAc|V182D|355|VPS37C|protein_coding|CODING|ENST00000301765|exon_11_60897728_60900011 . . . 0/1:95:92,0,144 11 61111346 rs35723406 C G NON_SYNONYMOUS_CODING DAK MODERATE|MISSENSE|gCa/gGa|A333G|533|DAK|protein_coding|CODING|ENST00000529479|exon_11_61111328_61111447 . 0/1:99:183,0,221 . . 11 61111346 rs35723406 C G NON_SYNONYMOUS_CODING DAK MODERATE|MISSENSE|gCa/gGa|A334G|575|DAK|protein_coding|CODING|ENST00000394900|exon_11_61111328_61111447 . 0/1:99:183,0,221 . . 11 61511498 rs3741252 C T NON_SYNONYMOUS_CODING DAGLA MODERATE|MISSENSE|cCg/cTg|P889L|1042|DAGLA|protein_coding|CODING|ENST00000257215|exon_11_61511004_61514473 . . 0/1:99:144,0,201 . 11 61675714 rs34281659 T C NON_SYNONYMOUS_CODING RAB3IL1 MODERATE|MISSENSE|Acg/Gcg|T26A|382|RAB3IL1|protein_coding|CODING|ENST00000394836|exon_11_61675526_61675778 . . 0/1:99:219,0,132 . 11 61675714 rs34281659 T C NON_SYNONYMOUS_CODING RAB3IL1 MODERATE|MISSENSE|Acg/Gcg|T73A|262|RAB3IL1|protein_coding|CODING|ENST00000531922|exon_11_61675526_61675778 . . 0/1:99:219,0,132 . 11 61675714 rs34281659 T C NON_SYNONYMOUS_CODING RAB3IL1 MODERATE|MISSENSE|Acg/Gcg|T73A|356|RAB3IL1|protein_coding|CODING|ENST00000301773|exon_11_61675526_61675778 . . 0/1:99:219,0,132 . 11 61727438 rs1801390 C T NON_SYNONYMOUS_CODING BEST1 MODERATE|MISSENSE|cCg/cTg|P303L|329|BEST1|protein_coding|CODING|ENST00000526988|exon_11_61727364_61727515 . . . 0/1:99:191,0,221 11 61730553 rs17185413 T C NON_SYNONYMOUS_CODING BEST1 MODERATE|MISSENSE|Tcg/Ccg|S271P|292|BEST1|protein_coding|CODING|ENST00000301774|exon_11_61729727_61730816 . . 0/1:99:249,0,255 . 11 61730553 rs17185413 T C NON_SYNONYMOUS_CODING BEST1 MODERATE|MISSENSE|Tcg/Ccg|S583P|604|BEST1|protein_coding|CODING|ENST00000449131|exon_11_61729727_61732987 . . 0/1:99:249,0,255 . 11 61908440 rs2277283 T C NON_SYNONYMOUS_CODING INCENP MODERATE|MISSENSE|aTg/aCg|M506T|914|INCENP|protein_coding|CODING|ENST00000278849|exon_11_61908385_61908516 . 0/1:99:255,0,214 0/1:99:255,0,192 . 11 61908440 rs2277283 T C NON_SYNONYMOUS_CODING INCENP MODERATE|MISSENSE|aTg/aCg|M506T|918|INCENP|protein_coding|CODING|ENST00000394818|exon_11_61908385_61908516 . 0/1:99:255,0,214 0/1:99:255,0,192 . 11 62288649 rs77865984 G C NON_SYNONYMOUS_CODING AHNAK MODERATE|MISSENSE|Ctc/Gtc|L4414V|5890|AHNAK|protein_coding|CODING|ENST00000378024|exon_11_62283377_62301546 0/1:99:255,0,255 . . . 11 62294309 rs141117375 C T NON_SYNONYMOUS_CODING AHNAK MODERATE|MISSENSE|gGc/gAc|G2527D|5890|AHNAK|protein_coding|CODING|ENST00000378024|exon_11_62283377_62301546 0/1:99:232,0,249 . . . 11 62294309 rs141117375 C T NON_SYNONYMOUS_CODING AHNAK MODERATE|MISSENSE|gGc/gAc|G616D|791|AHNAK|protein_coding|CODING|ENST00000244934|exon_11_62293801_62296160 0/1:99:232,0,249 . . . 11 62433912 rs111425217 C T NON_SYNONYMOUS_CODING METTL12 MODERATE|MISSENSE|Cgg/Tgg|R38W|240|METTL12|protein_coding|CODING|ENST00000532971|exon_11_62433868_62435580 . . 0/1:99:196,0,210 . 11 62559385 rs2584918 T C NON_SYNONYMOUS_CODING TMEM223 MODERATE|MISSENSE|Acg/Gcg|T28A|106|TMEM223|protein_coding|CODING|ENST00000525631|exon_11_62559151_62559469 0/1:99:187,0,245 . . . 11 62559385 rs2584918 T C NON_SYNONYMOUS_CODING TMEM223 MODERATE|MISSENSE|Acg/Gcg|T28A|202|TMEM223|protein_coding|CODING|ENST00000307366|exon_11_62559151_62559493 0/1:99:187,0,245 . . . 11 62563587 rs149273641 T C NON_SYNONYMOUS_CODING NXF1 MODERATE|MISSENSE|aAa/aGa|K471R|619|NXF1|protein_coding|CODING|ENST00000294172|exon_11_62563538_62563653 . . . 0/1:99:255,0,154 11 62563587 rs149273641 T C NON_SYNONYMOUS_CODING NXF1 MODERATE|MISSENSE|aAa/aGa|K471R|619|NXF1|protein_coding|CODING|ENST00000532297|exon_11_62563538_62563653 . . . 0/1:99:255,0,154 11 62563587 rs149273641 T C NON_SYNONYMOUS_CODING NXF1 MODERATE|MISSENSE|aAa/aGa|K514R|602|NXF1|protein_coding|CODING|ENST00000530875|exon_11_62563538_62563653 . . . 0/1:99:255,0,154 11 62886800 rs4963245 G C NON_SYNONYMOUS_CODING SLC22A24 MODERATE|MISSENSE|Cgg/Ggg|R172G|322|SLC22A24|protein_coding|CODING|ENST00000326192|exon_11_62886653_62886807 . . . 1/1:99:255,87,0 11 62886800 rs4963245 G C NON_SYNONYMOUS_CODING SLC22A24 MODERATE|MISSENSE|Cgg/Ggg|R172G|330|SLC22A24|protein_coding|CODING|ENST00000531535|exon_11_62886653_62886807 . . . 1/1:99:255,87,0 11 62886800 rs4963245 G C NON_SYNONYMOUS_CODING SLC22A24 MODERATE|MISSENSE|Cgg/Ggg|R172G|551|SLC22A24|protein_coding|CODING|ENST00000417740|exon_11_62886653_62886807 . . . 1/1:99:255,87,0 11 62935447 rs112113974 C T NON_SYNONYMOUS_CODING SLC22A25 MODERATE|MISSENSE|Gcc/Acc|A220T|234|SLC22A25|protein_coding|CODING|ENST00000403374|exon_11_62934768_62935532 . . 0/1:99:245,0,255 . 11 63072184 rs72926329 C T NON_SYNONYMOUS_CODING SLC22A10 MODERATE|MISSENSE|aCg/aTg|T474M|541|SLC22A10|protein_coding|CODING|ENST00000332793|exon_11_63072158_63072361 . . . 0/1:99:241,0,255 11 63176187 rs146027075 A G NON_SYNONYMOUS_CODING SLC22A9 MODERATE|MISSENSE|atA/atG|I479M|553|SLC22A9|protein_coding|CODING|ENST00000279178|exon_11_63176148_63176351 . . . 0/1:99:196,0,220 11 63991581 rs11549690 G A NON_SYNONYMOUS_CODING TRPT1 MODERATE|MISSENSE|Cgc/Tgc|R172C|204|TRPT1|protein_coding|CODING|ENST00000394547|exon_11_63991572_63991682 . . . 0/1:56:53,0,252 11 63991581 rs11549690 G A NON_SYNONYMOUS_CODING TRPT1 MODERATE|MISSENSE|Cgc/Tgc|R221C|253|TRPT1|protein_coding|CODING|ENST00000317459|exon_11_63991572_63991682 . . . 0/1:56:53,0,252 11 63991581 rs11549690 G A NON_SYNONYMOUS_CODING TRPT1 MODERATE|MISSENSE|Cgc/Tgc|R223C|255|TRPT1|protein_coding|CODING|ENST00000394546|exon_11_63991572_63991682 . . . 0/1:56:53,0,252 11 63991581 rs11549690 G A NON_SYNONYMOUS_CODING TRPT1 MODERATE|MISSENSE|Cgc/Tgc|R79C|111|TRPT1|protein_coding|CODING|ENST00000546133|exon_11_63991572_63991634 . . . 0/1:56:53,0,252 11 64009879 rs4672 G A NON_SYNONYMOUS_CODING FKBP2 MODERATE|MISSENSE|cGg/cAg|R7Q|101|FKBP2|protein_coding|CODING|ENST00000535135|exon_11_64009856_64010030 . . . 0/1:99:145,0,171 11 64009879 rs4672 G A NON_SYNONYMOUS_CODING FKBP2 MODERATE|MISSENSE|cGg/cAg|R7Q|142|FKBP2|protein_coding|CODING|ENST00000309366|exon_11_64009856_64010030 . . . 0/1:99:145,0,171 11 64009879 rs4672 G A NON_SYNONYMOUS_CODING FKBP2 MODERATE|MISSENSE|cGg/cAg|R7Q|142|FKBP2|protein_coding|CODING|ENST00000394540|exon_11_64009856_64010030 . . . 0/1:99:145,0,171 11 64009879 rs4672 G A NON_SYNONYMOUS_CODING FKBP2 MODERATE|MISSENSE|cGg/cAg|R7Q|142|FKBP2|protein_coding|CODING|ENST00000449942|exon_11_64009856_64010030 . . . 0/1:99:145,0,171 11 64217467 rs76247963 C G NON_SYNONYMOUS_CODING AP003774.4.1 MODERATE|MISSENSE|agC/agG|S69R|127|AP003774.4.1|protein_coding|CODING|ENST00000316124|exon_11_64217369_64219126 . 0/1:99:126,0,194 . . 11 64480930 rs12273892 A T NON_SYNONYMOUS_CODING NRXN2 MODERATE|MISSENSE|cTg/cAg|L81Q|1642|NRXN2|protein_coding|CODING|ENST00000345863|exon_11_64480442_64481415 . . . 1/1:57:233,30,0 11 64480930 rs12273892 A T NON_SYNONYMOUS_CODING NRXN2 MODERATE|MISSENSE|cTg/cAg|L81Q|1642|NRXN2|protein_coding|CODING|ENST00000377559|exon_11_64480442_64481415 . . . 1/1:57:233,30,0 11 64480930 rs12273892 A T NON_SYNONYMOUS_CODING NRXN2 MODERATE|MISSENSE|cTg/cAg|L81Q|1705|NRXN2|protein_coding|CODING|ENST00000409571|exon_11_64480442_64481415 . . . 1/1:57:233,30,0 11 64480930 rs12273892 A T NON_SYNONYMOUS_CODING NRXN2 MODERATE|MISSENSE|cTg/cAg|L81Q|1712|NRXN2|protein_coding|CODING|ENST00000265459|exon_11_64480442_64481415 . . . 1/1:57:233,30,0 11 64480930 rs12273892 A T NON_SYNONYMOUS_CODING NRXN2 MODERATE|MISSENSE|cTg/cAg|L81Q|1712|NRXN2|protein_coding|CODING|ENST00000377551|exon_11_64480442_64481383 . . . 1/1:57:233,30,0 11 64545683 . G A NON_SYNONYMOUS_CODING SF1 MODERATE|MISSENSE|gCg/gTg|A61V|673|SF1|protein_coding|CODING|ENST00000377387|exon_11_64545459_64545941 . 0/1:21:117,0,18 . . 11 64563757 rs34264803 C T NON_SYNONYMOUS_CODING MAP4K2 MODERATE|MISSENSE|cGc/cAc|R572H|812|MAP4K2|protein_coding|CODING|ENST00000377350|exon_11_64563745_64563862 0/1:99:218,0,202 . . . 11 64563757 rs34264803 C T NON_SYNONYMOUS_CODING MAP4K2 MODERATE|MISSENSE|cGc/cAc|R580H|820|MAP4K2|protein_coding|CODING|ENST00000294066|exon_11_64563745_64563862 0/1:99:218,0,202 . . . 11 64569546 rs115646677 C A NON_SYNONYMOUS_CODING MAP4K2 MODERATE|MISSENSE|Gca/Tca|A120S|306|MAP4K2|protein_coding|CODING|ENST00000439069|exon_11_64569538_64569593 0/1:99:99,0,172 . . . 11 64569546 rs115646677 C A NON_SYNONYMOUS_CODING MAP4K2 MODERATE|MISSENSE|Gca/Tca|A120S|812|MAP4K2|protein_coding|CODING|ENST00000377350|exon_11_64569538_64569593 0/1:99:99,0,172 . . . 11 64569546 rs115646677 C A NON_SYNONYMOUS_CODING MAP4K2 MODERATE|MISSENSE|Gca/Tca|A120S|820|MAP4K2|protein_coding|CODING|ENST00000294066|exon_11_64569538_64569593 0/1:99:99,0,172 . . . 11 64607670 rs34454471 G A NON_SYNONYMOUS_CODING CDC42BPG MODERATE|MISSENSE|cCg/cTg|P168L|1551|CDC42BPG|protein_coding|CODING|ENST00000342711|exon_11_64607592_64607740 . 0/1:99:245,0,255 . . 11 64700627 . T A NON_SYNONYMOUS_CODING PPP2R5B MODERATE|MISSENSE|Tca/Aca|S419T|497|PPP2R5B|protein_coding|CODING|ENST00000164133|exon_11_64700617_64700718 0/1:99:228,0,255 . . . 11 64700627 . T A NON_SYNONYMOUS_CODING PPP2R5B MODERATE|MISSENSE|Tca/Aca|S419T|497|PPP2R5B|protein_coding|CODING|ENST00000527441|exon_11_64700617_64700718 0/1:99:228,0,255 . . . 11 64820695 rs12223986 T G NON_SYNONYMOUS_CODING NAALADL1 MODERATE|MISSENSE|aAg/aCg|K357T|699|NAALADL1|protein_coding|CODING|ENST00000355721|exon_11_64820690_64820809 0/1:99:255,0,170 . . . 11 64820695 rs12223986 T G NON_SYNONYMOUS_CODING NAALADL1 MODERATE|MISSENSE|aAg/aCg|K363T|705|NAALADL1|protein_coding|CODING|ENST00000356632|exon_11_64820690_64820809 0/1:99:255,0,170 . . . 11 64820695 rs12223986 T G NON_SYNONYMOUS_CODING NAALADL1 MODERATE|MISSENSE|aAg/aCg|K398T|522|NAALADL1|protein_coding|CODING|ENST00000355369|exon_11_64820690_64820809 0/1:99:255,0,170 . . . 11 64820695 rs12223986 T G NON_SYNONYMOUS_CODING NAALADL1 MODERATE|MISSENSE|aAg/aCg|K398T|544|NAALADL1|protein_coding|CODING|ENST00000339885|exon_11_64820690_64820809 0/1:99:255,0,170 . . . 11 64820695 rs12223986 T G NON_SYNONYMOUS_CODING NAALADL1 MODERATE|MISSENSE|aAg/aCg|K398T|739|NAALADL1|protein_coding|CODING|ENST00000453486|exon_11_64820690_64820809 0/1:99:255,0,170 . . . 11 64820695 rs12223986 T G NON_SYNONYMOUS_CODING NAALADL1 MODERATE|MISSENSE|aAg/aCg|K398T|740|NAALADL1|protein_coding|CODING|ENST00000358658|exon_11_64820690_64820809 0/1:99:255,0,170 . . . 11 64820695 rs12223986 T G NON_SYNONYMOUS_CODING NAALADL1 MODERATE|MISSENSE|aAg/aCg|K449T|791|NAALADL1|protein_coding|CODING|ENST00000340252|exon_11_64820690_64821048 0/1:99:255,0,170 . . . 11 64822182 rs147209948 G A NON_SYNONYMOUS_CODING NAALADL1 MODERATE|MISSENSE|gCt/gTt|A170V|699|NAALADL1|protein_coding|CODING|ENST00000355721|exon_11_64821927_64822210 . . 0/1:99:192,0,114 . 11 64822182 rs147209948 G A NON_SYNONYMOUS_CODING NAALADL1 MODERATE|MISSENSE|gCt/gTt|A211V|522|NAALADL1|protein_coding|CODING|ENST00000355369|exon_11_64821927_64822210 . . 0/1:99:192,0,114 . 11 64822182 rs147209948 G A NON_SYNONYMOUS_CODING NAALADL1 MODERATE|MISSENSE|gCt/gTt|A211V|544|NAALADL1|protein_coding|CODING|ENST00000339885|exon_11_64821927_64822210 . . 0/1:99:192,0,114 . 11 64822182 rs147209948 G A NON_SYNONYMOUS_CODING NAALADL1 MODERATE|MISSENSE|gCt/gTt|A211V|705|NAALADL1|protein_coding|CODING|ENST00000356632|exon_11_64821927_64822210 . . 0/1:99:192,0,114 . 11 64822182 rs147209948 G A NON_SYNONYMOUS_CODING NAALADL1 MODERATE|MISSENSE|gCt/gTt|A211V|739|NAALADL1|protein_coding|CODING|ENST00000453486|exon_11_64821927_64822210 . . 0/1:99:192,0,114 . 11 64822182 rs147209948 G A NON_SYNONYMOUS_CODING NAALADL1 MODERATE|MISSENSE|gCt/gTt|A211V|740|NAALADL1|protein_coding|CODING|ENST00000358658|exon_11_64821927_64822210 . . 0/1:99:192,0,114 . 11 64822182 rs147209948 G A NON_SYNONYMOUS_CODING NAALADL1 MODERATE|MISSENSE|gCt/gTt|A211V|791|NAALADL1|protein_coding|CODING|ENST00000340252|exon_11_64821927_64822210 . . 0/1:99:192,0,114 . 11 64878234 rs138579763 G C NON_SYNONYMOUS_CODING C11orf2 MODERATE|MISSENSE|aGc/aCc|S64T|99|C11orf2|protein_coding|CODING|ENST00000530673|exon_11_64878166_64878253 . . . 0/1:97:94,0,250 11 64878234 rs138579763 G C NON_SYNONYMOUS_CODING C11orf2 MODERATE|MISSENSE|aGc/aCc|S690T|782|C11orf2|protein_coding|CODING|ENST00000279281|exon_11_64878166_64878253 . . . 0/1:97:94,0,250 11 64949119 rs17880457 G A NON_SYNONYMOUS_CODING AP003068.23.1 MODERATE|MISSENSE|Ccg/Tcg|P11S|252|AP003068.23.1|protein_coding|CODING|ENST00000526623|exon_11_64948696_64949305 1/1:16:79,9,0 . . . 11 65064690 rs487989 G A NON_SYNONYMOUS_CODING POLA2 MODERATE|MISSENSE|Ggg/Agg|G583R|598|POLA2|protein_coding|CODING|ENST00000265465|exon_11_65064591_65066156 . 1/1:99:255,84,0 0/1:99:159,0,249 . 11 65124408 rs61732319 A G NON_SYNONYMOUS_CODING TIGD3 MODERATE|MISSENSE|Acc/Gcc|T377A|471|TIGD3|protein_coding|CODING|ENST00000309880|exon_11_65123264_65125084 . 0/1:99:247,0,141 . . 11 65319751 rs11545200 G A NON_SYNONYMOUS_CODING LTBP3 MODERATE|MISSENSE|gCg/gTg|A118V|142|LTBP3|protein_coding|CODING|ENST00000530426|exon_11_65319719_65319877 . 0/1:99:201,0,229 0/1:99:97,0,230 . 11 65319751 rs11545200 G A NON_SYNONYMOUS_CODING LTBP3 MODERATE|MISSENSE|gCg/gTg|A349V|1135|LTBP3|protein_coding|CODING|ENST00000530866|exon_11_65319719_65319877 . 0/1:99:201,0,229 0/1:99:97,0,230 . 11 65319751 rs11545200 G A NON_SYNONYMOUS_CODING LTBP3 MODERATE|MISSENSE|gCg/gTg|A438V|1256|LTBP3|protein_coding|CODING|ENST00000322147|exon_11_65319719_65319877 . 0/1:99:201,0,229 0/1:99:97,0,230 . 11 65319751 rs11545200 G A NON_SYNONYMOUS_CODING LTBP3 MODERATE|MISSENSE|gCg/gTg|A438V|1303|LTBP3|protein_coding|CODING|ENST00000301873|exon_11_65319719_65319877 . 0/1:99:201,0,229 0/1:99:97,0,230 . 11 65319751 rs11545200 G A NON_SYNONYMOUS_CODING LTBP3 MODERATE|MISSENSE|gCg/gTg|A64V|882|LTBP3|protein_coding|CODING|ENST00000536982|exon_11_65319719_65319877 . 0/1:99:201,0,229 0/1:99:97,0,230 . 11 65360988 . AGGCTGCGGC AGGCTGCGGCTGCGGC CODON_INSERTION KCNK7 MODERATE||-/GCCGCA|-223AA|252|KCNK7|protein_coding|CODING|ENST00000342202|exon_11_65360947_65361345 0/1:99:164,0,245 . . . 11 65360988 . AGGCTGCGGC AGGCTGCGGCTGCGGC CODON_INSERTION KCNK7 MODERATE||-/GCCGCA|-223AA|252|KCNK7|protein_coding|CODING|ENST00000394217|exon_11_65360947_65361345 0/1:99:164,0,245 . . . 11 65360988 . AGGCTGCGGC AGGCTGCGGCTGCGGC CODON_INSERTION KCNK7 MODERATE||-/GCCGCA|-223AA|257|KCNK7|protein_coding|CODING|ENST00000394216|exon_11_65360326_65361345 0/1:99:164,0,245 . . . 11 65360988 . AGGCTGCGGC AGGCTGCGGCTGCGGC CODON_INSERTION KCNK7 MODERATE||-/GCCGCA|-223AA|307|KCNK7|protein_coding|CODING|ENST00000340313|exon_11_65360947_65361345 0/1:99:164,0,245 . . . 11 65394881 rs117574905 G A NON_SYNONYMOUS_CODING PCNXL3 MODERATE|MISSENSE|cGg/cAg|R1177Q|2034|PCNXL3|protein_coding|CODING|ENST00000355703|exon_11_65394876_65395053 . . 0/1:99:217,0,161 . 11 65404018 rs77200859 G A NON_SYNONYMOUS_CODING PCNXL3 MODERATE|MISSENSE|cGg/cAg|R1917Q|2034|PCNXL3|protein_coding|CODING|ENST00000355703|exon_11_65403862_65404160 0/1:99:186,0,151 . . . 11 65729513 rs200247501 C G NON_SYNONYMOUS_CODING SART1 MODERATE|MISSENSE|Ccc/Gcc|P88A|800|SART1|protein_coding|CODING|ENST00000312397|exon_11_65729160_65729564 0/1:18:90,0,15 . . . 11 65766092 rs2276017 C T NON_SYNONYMOUS_CODING EIF1AD MODERATE|MISSENSE|aGt/aAt|S107N|113|EIF1AD|protein_coding|CODING|ENST00000525767|exon_11_65765860_65766214 . . 0/1:99:255,0,201 . 11 65766092 rs2276017 C T NON_SYNONYMOUS_CODING EIF1AD MODERATE|MISSENSE|aGt/aAt|S159N|165|EIF1AD|protein_coding|CODING|ENST00000312234|exon_11_65764016_65766214 . . 0/1:99:255,0,201 . 11 65766092 rs2276017 C T NON_SYNONYMOUS_CODING EIF1AD MODERATE|MISSENSE|aGt/aAt|S159N|165|EIF1AD|protein_coding|CODING|ENST00000526451|exon_11_65764016_65766214 . . 0/1:99:255,0,201 . 11 65766092 rs2276017 C T NON_SYNONYMOUS_CODING EIF1AD MODERATE|MISSENSE|aGt/aAt|S159N|165|EIF1AD|protein_coding|CODING|ENST00000527249|exon_11_65766038_65766214 . . 0/1:99:255,0,201 . 11 65766092 rs2276017 C T NON_SYNONYMOUS_CODING EIF1AD MODERATE|MISSENSE|aGt/aAt|S159N|165|EIF1AD|protein_coding|CODING|ENST00000533544|exon_11_65765964_65766214 . . 0/1:99:255,0,201 . 11 65810045 rs4565902 T G NON_SYNONYMOUS_CODING GAL3ST3 MODERATE|MISSENSE|gAg/gCg|E410A|431|GAL3ST3|protein_coding|CODING|ENST00000312006|exon_11_65809423_65811148 . . 0/1:87:117,0,84 . 11 65810045 rs4565902 T G NON_SYNONYMOUS_CODING GAL3ST3 MODERATE|MISSENSE|gAg/gCg|E410A|431|GAL3ST3|protein_coding|CODING|ENST00000527878|exon_11_65809835_65811148 . . 0/1:87:117,0,84 . 11 66083043 rs74818906 C T NON_SYNONYMOUS_CODING CD248 MODERATE|MISSENSE|Gca/Aca|A486T|757|CD248|protein_coding|CODING|ENST00000311330|exon_11_66081958_66084515 . . 0/1:99:220,0,223 . 11 66358274 rs62000969 A C NON_SYNONYMOUS_CODING CCDC87 MODERATE|MISSENSE|cTa/cGa|L738R|849|CCDC87|protein_coding|CODING|ENST00000333861|exon_11_66357640_66360554 . 0/1:99:195,0,255 . . 11 66392825 rs139642034 C T NON_SYNONYMOUS_CODING RBM14 MODERATE|MISSENSE|gCg/gTg|A493V|669|RBM14|protein_coding|CODING|ENST00000310137|exon_11_66391685_66393149 . . 0/1:99:249,0,213 . 11 66627942 . C T NON_SYNONYMOUS_CODING PC MODERATE|MISSENSE|Gtg/Atg|V483M|489|PC|protein_coding|CODING|ENST00000524491|exon_11_66627889_66628140 . . . 0/1:99:226,0,198 11 66627942 . C T NON_SYNONYMOUS_CODING PC MODERATE|MISSENSE|Gtg/Atg|V523M|529|PC|protein_coding|CODING|ENST00000355677|exon_11_66627889_66628140 . . . 0/1:99:226,0,198 11 66807561 rs11227664 A C NON_SYNONYMOUS_CODING SYT12 MODERATE|MISSENSE|Aac/Cac|N170H|421|SYT12|protein_coding|CODING|ENST00000393946|exon_11_66807282_66807674 . . . 0/1:99:139,0,255 11 66807561 rs11227664 A C NON_SYNONYMOUS_CODING SYT12 MODERATE|MISSENSE|Aac/Cac|N170H|421|SYT12|protein_coding|CODING|ENST00000525457|exon_11_66807282_66807674 . . . 0/1:99:139,0,255 11 66807561 rs11227664 A C NON_SYNONYMOUS_CODING SYT12 MODERATE|MISSENSE|Aac/Cac|N170H|421|SYT12|protein_coding|CODING|ENST00000527043|exon_11_66807282_66807674 . . . 0/1:99:139,0,255 11 67176898 rs11227788 A G NON_SYNONYMOUS_CODING TBC1D10C MODERATE|MISSENSE|Aga/Gga|R274G|310|TBC1D10C|protein_coding|CODING|ENST00000526387|exon_11_67176878_67177560 . . . 0/1:99:119,0,203 11 67186271 rs868167 C A NON_SYNONYMOUS_CODING CARNS1 MODERATE|MISSENSE|Cca/Aca|P137T|924|CARNS1|protein_coding|CODING|ENST00000531040|exon_11_67186227_67186714 . . . 0/1:99:114,0,185 11 67186271 rs868167 C A NON_SYNONYMOUS_CODING CARNS1 MODERATE|MISSENSE|Cca/Aca|P137T|924|CARNS1|protein_coding|CODING|ENST00000542831|exon_11_67186227_67186714 . . . 0/1:99:114,0,185 11 67186271 rs868167 C A NON_SYNONYMOUS_CODING CARNS1 MODERATE|MISSENSE|Cca/Aca|P137T|950|CARNS1|protein_coding|CODING|ENST00000445895|exon_11_67186227_67186714 . . . 0/1:99:114,0,185 11 67186271 rs868167 C A NON_SYNONYMOUS_CODING CARNS1 MODERATE|MISSENSE|Cca/Aca|P14T|827|CARNS1|protein_coding|CODING|ENST00000307823|exon_11_67186227_67186714 . . . 0/1:99:114,0,185 11 67186271 rs868167 C A NON_SYNONYMOUS_CODING CARNS1 MODERATE|MISSENSE|Cca/Aca|P14T|827|CARNS1|protein_coding|CODING|ENST00000423745|exon_11_67186227_67186714 . . . 0/1:99:114,0,185 11 67186271 rs868167 C A NON_SYNONYMOUS_CODING CARNS1 MODERATE|MISSENSE|Cca/Aca|P153T|300|CARNS1|protein_coding|CODING|ENST00000539452|exon_11_67186227_67186666 . . . 0/1:99:114,0,185 11 67219247 rs1638559 G C NON_SYNONYMOUS_CODING GPR152 MODERATE|MISSENSE|Ctc/Gtc|L317V|470|GPR152|protein_coding|CODING|ENST00000312457|exon_11_67218772_67220200 . . . 0/1:99:206,0,143 11 67434078 rs74508424 T G NON_SYNONYMOUS_CODING ALDH3B2 MODERATE|MISSENSE|Acc/Ccc|T40P|146|ALDH3B2|protein_coding|CODING|ENST00000525827|exon_11_67434045_67434165 . . . 0/1:65:62,0,255 11 67434078 rs74508424 T G NON_SYNONYMOUS_CODING ALDH3B2 MODERATE|MISSENSE|Acc/Ccc|T40P|385|ALDH3B2|protein_coding|CODING|ENST00000349015|exon_11_67434045_67434165 . . . 0/1:65:62,0,255 11 67434078 rs74508424 T G NON_SYNONYMOUS_CODING ALDH3B2 MODERATE|MISSENSE|Acc/Ccc|T40P|385|ALDH3B2|protein_coding|CODING|ENST00000530069|exon_11_67434045_67434165 . . . 0/1:65:62,0,255 11 67434078 rs74508424 T G NON_SYNONYMOUS_CODING ALDH3B2 MODERATE|MISSENSE|Acc/Ccc|T40P|93|ALDH3B2|protein_coding|CODING|ENST00000528756|exon_11_67434045_67434165 . . . 0/1:65:62,0,255 11 67434160 rs76408306 C T NON_SYNONYMOUS_CODING ALDH3B2 MODERATE|MISSENSE|atG/atA|M12I|146|ALDH3B2|protein_coding|CODING|ENST00000525827|exon_11_67434045_67434165 . . . 0/1:99:221,0,195 11 67434160 rs76408306 C T NON_SYNONYMOUS_CODING ALDH3B2 MODERATE|MISSENSE|atG/atA|M12I|385|ALDH3B2|protein_coding|CODING|ENST00000349015|exon_11_67434045_67434165 . . . 0/1:99:221,0,195 11 67434160 rs76408306 C T NON_SYNONYMOUS_CODING ALDH3B2 MODERATE|MISSENSE|atG/atA|M12I|385|ALDH3B2|protein_coding|CODING|ENST00000530069|exon_11_67434045_67434165 . . . 0/1:99:221,0,195 11 67434160 rs76408306 C T NON_SYNONYMOUS_CODING ALDH3B2 MODERATE|MISSENSE|atG/atA|M12I|93|ALDH3B2|protein_coding|CODING|ENST00000528756|exon_11_67434045_67434165 . . . 0/1:99:221,0,195 11 67434161 rs76550666 A G NON_SYNONYMOUS_CODING ALDH3B2 MODERATE|MISSENSE|aTg/aCg|M12T|146|ALDH3B2|protein_coding|CODING|ENST00000525827|exon_11_67434045_67434165 . . . 0/1:99:210,0,188 11 67434161 rs76550666 A G NON_SYNONYMOUS_CODING ALDH3B2 MODERATE|MISSENSE|aTg/aCg|M12T|385|ALDH3B2|protein_coding|CODING|ENST00000349015|exon_11_67434045_67434165 . . . 0/1:99:210,0,188 11 67434161 rs76550666 A G NON_SYNONYMOUS_CODING ALDH3B2 MODERATE|MISSENSE|aTg/aCg|M12T|385|ALDH3B2|protein_coding|CODING|ENST00000530069|exon_11_67434045_67434165 . . . 0/1:99:210,0,188 11 67434161 rs76550666 A G NON_SYNONYMOUS_CODING ALDH3B2 MODERATE|MISSENSE|aTg/aCg|M12T|93|ALDH3B2|protein_coding|CODING|ENST00000528756|exon_11_67434045_67434165 . . . 0/1:99:210,0,188 11 67925546 rs144458991 T C NON_SYNONYMOUS_CODING SUV420H1 MODERATE|MISSENSE|aAt/aGt|N756S|885|SUV420H1|protein_coding|CODING|ENST00000304363|exon_11_67922330_67926638 . . 0/1:99:255,0,255 . 11 68705820 rs2275996 G A NON_SYNONYMOUS_CODING IGHMBP2 MODERATE|MISSENSE|Gag/Aag|E928K|993|IGHMBP2|protein_coding|CODING|ENST00000255078|exon_11_68705650_68705822 0/1:99:253,0,192 . . . 11 69063510 rs11539762 G A NON_SYNONYMOUS_CODING MYEOV MODERATE|MISSENSE|cGa/cAa|R140Q|255|MYEOV|protein_coding|CODING|ENST00000535407|exon_11_69062868_69064754 0/1:99:215,0,255 . . . 11 69063510 rs11539762 G A NON_SYNONYMOUS_CODING MYEOV MODERATE|MISSENSE|cGa/cAa|R198Q|313|MYEOV|protein_coding|CODING|ENST00000308946|exon_11_69063059_69064754 0/1:99:215,0,255 . . . 11 69063510 rs11539762 G A NON_SYNONYMOUS_CODING MYEOV MODERATE|MISSENSE|cGa/cAa|R198Q|313|MYEOV|protein_coding|CODING|ENST00000441339|exon_11_69063059_69064352 0/1:99:215,0,255 . . . 11 69063728 rs11228610 G C NON_SYNONYMOUS_CODING MYEOV MODERATE|MISSENSE|Ggg/Cgg|G213R|255|MYEOV|protein_coding|CODING|ENST00000535407|exon_11_69062868_69064754 0/1:99:206,0,205 . . . 11 69063728 rs11228610 G C NON_SYNONYMOUS_CODING MYEOV MODERATE|MISSENSE|Ggg/Cgg|G271R|313|MYEOV|protein_coding|CODING|ENST00000308946|exon_11_69063059_69064754 0/1:99:206,0,205 . . . 11 69063728 rs11228610 G C NON_SYNONYMOUS_CODING MYEOV MODERATE|MISSENSE|Ggg/Cgg|G271R|313|MYEOV|protein_coding|CODING|ENST00000441339|exon_11_69063059_69064352 0/1:99:206,0,205 . . . 11 70007354 rs201870990 G A NON_SYNONYMOUS_CODING ANO1 MODERATE|MISSENSE|Gtg/Atg|V107M|150|ANO1|protein_coding|CODING|ENST00000531300|exon_11_70007267_70007468 . . 0/1:99:222,0,255 0/1:99:175,0,218 11 70007354 rs201870990 G A NON_SYNONYMOUS_CODING ANO1 MODERATE|MISSENSE|Gtg/Atg|V265M|695|ANO1|protein_coding|CODING|ENST00000531349|exon_11_70007267_70007468 . . 0/1:99:222,0,255 0/1:99:175,0,218 11 70007354 rs201870990 G A NON_SYNONYMOUS_CODING ANO1 MODERATE|MISSENSE|Gtg/Atg|V314M|744|ANO1|protein_coding|CODING|ENST00000546327|exon_11_70007267_70007468 . . 0/1:99:222,0,255 0/1:99:175,0,218 11 70007354 rs201870990 G A NON_SYNONYMOUS_CODING ANO1 MODERATE|MISSENSE|Gtg/Atg|V410M|840|ANO1|protein_coding|CODING|ENST00000398543|exon_11_70007267_70007468 . . 0/1:99:222,0,255 0/1:99:175,0,218 11 70007354 rs201870990 G A NON_SYNONYMOUS_CODING ANO1 MODERATE|MISSENSE|Gtg/Atg|V410M|840|ANO1|protein_coding|CODING|ENST00000530676|exon_11_70007267_70007468 . . 0/1:99:222,0,255 0/1:99:175,0,218 11 70007354 rs201870990 G A NON_SYNONYMOUS_CODING ANO1 MODERATE|MISSENSE|Gtg/Atg|V498M|642|ANO1|protein_coding|CODING|ENST00000316296|exon_11_70007267_70007468 . . 0/1:99:222,0,255 0/1:99:175,0,218 11 70007354 rs201870990 G A NON_SYNONYMOUS_CODING ANO1 MODERATE|MISSENSE|Gtg/Atg|V556M|986|ANO1|protein_coding|CODING|ENST00000355303|exon_11_70007267_70007468 . . 0/1:99:222,0,255 0/1:99:175,0,218 11 70007354 rs201870990 G A NON_SYNONYMOUS_CODING ANO1 MODERATE|MISSENSE|Gtg/Atg|V556M|986|ANO1|protein_coding|CODING|ENST00000538023|exon_11_70007267_70007468 . . 0/1:99:222,0,255 0/1:99:175,0,218 11 70644655 rs141184740 C T NON_SYNONYMOUS_CODING SHANK2 MODERATE|MISSENSE|aGc/aAc|S178N|1470|SHANK2|protein_coding|CODING|ENST00000423696|exon_11_70644548_70644661 . . 0/1:99:218,0,255 . 11 70644655 rs141184740 C T NON_SYNONYMOUS_CODING SHANK2 MODERATE|MISSENSE|aGc/aAc|S187N|1488|SHANK2|protein_coding|CODING|ENST00000433693|exon_11_70644536_70644661 . . 0/1:99:218,0,255 . 11 70644655 rs141184740 C T NON_SYNONYMOUS_CODING SHANK2 MODERATE|MISSENSE|aGc/aAc|S188N|1473|SHANK2|protein_coding|CODING|ENST00000294018|exon_11_70644548_70644661 . . 0/1:99:218,0,255 . 11 70644655 rs141184740 C T NON_SYNONYMOUS_CODING SHANK2 MODERATE|MISSENSE|aGc/aAc|S558N|1850|SHANK2|protein_coding|CODING|ENST00000338508|exon_11_70644548_70644661 . . 0/1:99:218,0,255 . 11 70779289 rs144974511 T A NON_SYNONYMOUS_CODING SHANK2 MODERATE|MISSENSE|cAt/cTt|H354L|1850|SHANK2|protein_coding|CODING|ENST00000338508|exon_11_70779278_70779316 . 0/1:99:255,0,255 . . 11 70798902 rs34650500 G T NON_SYNONYMOUS_CODING SHANK2 MODERATE|MISSENSE|gCc/gAc|A24D|41|SHANK2|protein_coding|CODING|ENST00000425585|exon_11_70798846_70798972 . 0/1:99:155,0,255 . . 11 71502828 . A T NON_SYNONYMOUS_CODING FAM86C1 MODERATE|MISSENSE|aAg/aTg|K68M|158|FAM86C1|protein_coding|CODING|ENST00000426628|exon_11_71502785_71502865 . 0/1:99:200,0,182 . . 11 71544285 rs140045460 A G NON_SYNONYMOUS_CODING DEFB108B MODERATE|MISSENSE|Atg/Gtg|M14V|73|DEFB108B|protein_coding|CODING|ENST00000328698|exon_11_71544246_71544303 0/1:99:140,0,190 . . . 11 71706544 rs34075366 A G NON_SYNONYMOUS_CODING RNF121 MODERATE|MISSENSE|aAa/aGa|K197R|205|RNF121|protein_coding|CODING|ENST00000393713|exon_11_71706486_71706597 0/1:99:212,0,255 . . . 11 71719141 rs140525523 A G NON_SYNONYMOUS_CODING NUMA1 MODERATE|MISSENSE|cTg/cCg|L711P|1088|NUMA1|protein_coding|CODING|ENST00000536544|exon_11_71719138_71719191 0/1:99:255,0,227 . . . 11 71725634 rs149184541 C T NON_SYNONYMOUS_CODING NUMA1 MODERATE|MISSENSE|cGg/cAg|R535Q|1664|NUMA1|protein_coding|CODING|ENST00000359652|exon_11_71723941_71727306 . . . 0/1:99:255,0,229 11 71725634 rs149184541 C T NON_SYNONYMOUS_CODING NUMA1 MODERATE|MISSENSE|cGg/cAg|R972Q|2101|NUMA1|protein_coding|CODING|ENST00000358965|exon_11_71723941_71727306 . . . 0/1:99:255,0,229 11 71725634 rs149184541 C T NON_SYNONYMOUS_CODING NUMA1 MODERATE|MISSENSE|cGg/cAg|R972Q|2115|NUMA1|protein_coding|CODING|ENST00000393695|exon_11_71723941_71727306 . . . 0/1:99:255,0,229 11 72028249 rs148534573 G A NON_SYNONYMOUS_CODING CLPB MODERATE|MISSENSE|Cgg/Tgg|R126W|506|CLPB|protein_coding|CODING|ENST00000543042|exon_11_72028150_72028264 . . 0/1:99:151,0,231 . 11 72028249 rs148534573 G A NON_SYNONYMOUS_CODING CLPB MODERATE|MISSENSE|Cgg/Tgg|R151W|151|CLPB|protein_coding|CODING|ENST00000544683|exon_11_72028242_72028264 . . 0/1:99:151,0,231 . 11 72028249 rs148534573 G A NON_SYNONYMOUS_CODING CLPB MODERATE|MISSENSE|Cgg/Tgg|R268W|648|CLPB|protein_coding|CODING|ENST00000340729|exon_11_72028150_72028264 . . 0/1:99:151,0,231 . 11 72028249 rs148534573 G A NON_SYNONYMOUS_CODING CLPB MODERATE|MISSENSE|Cgg/Tgg|R282W|662|CLPB|protein_coding|CODING|ENST00000437826|exon_11_72028150_72028264 . . 0/1:99:151,0,231 . 11 72028249 rs148534573 G A NON_SYNONYMOUS_CODING CLPB MODERATE|MISSENSE|Cgg/Tgg|R297W|677|CLPB|protein_coding|CODING|ENST00000538039|exon_11_72028150_72028264 . . 0/1:99:151,0,231 . 11 72028249 rs148534573 G A NON_SYNONYMOUS_CODING CLPB MODERATE|MISSENSE|Cgg/Tgg|R327W|707|CLPB|protein_coding|CODING|ENST00000294053|exon_11_72028150_72028264 . . 0/1:99:151,0,231 . 11 72028249 rs148534573 G A NON_SYNONYMOUS_CODING CLPB MODERATE|MISSENSE|Cgg/Tgg|R332W|712|CLPB|protein_coding|CODING|ENST00000535990|exon_11_72028150_72028264 . . 0/1:99:151,0,231 . 11 72301503 rs341047 G A NON_SYNONYMOUS_CODING PDE2A MODERATE|MISSENSE|aCc/aTc|T109I|826|PDE2A|protein_coding|CODING|ENST00000418754|exon_11_72301471_72301624 . 1/1:99:255,84,0 . 0/1:99:210,0,202 11 72301503 rs341047 G A NON_SYNONYMOUS_CODING PDE2A MODERATE|MISSENSE|aCc/aTc|T215I|932|PDE2A|protein_coding|CODING|ENST00000444035|exon_11_72301471_72301624 . 1/1:99:255,84,0 . 0/1:99:210,0,202 11 72301503 rs341047 G A NON_SYNONYMOUS_CODING PDE2A MODERATE|MISSENSE|aCc/aTc|T215I|932|PDE2A|protein_coding|CODING|ENST00000540345|exon_11_72301471_72301624 . 1/1:99:255,84,0 . 0/1:99:210,0,202 11 72301503 rs341047 G A NON_SYNONYMOUS_CODING PDE2A MODERATE|MISSENSE|aCc/aTc|T217I|934|PDE2A|protein_coding|CODING|ENST00000544570|exon_11_72301471_72301624 . 1/1:99:255,84,0 . 0/1:99:210,0,202 11 72301503 rs341047 G A NON_SYNONYMOUS_CODING PDE2A MODERATE|MISSENSE|aCc/aTc|T224I|941|PDE2A|protein_coding|CODING|ENST00000334456|exon_11_72301471_72301624 . 1/1:99:255,84,0 . 0/1:99:210,0,202 11 72301503 rs341047 G A NON_SYNONYMOUS_CODING PDE2A MODERATE|MISSENSE|aCc/aTc|T293I|949|PDE2A|protein_coding|CODING|ENST00000429363|exon_11_72301471_72301624 . 1/1:99:255,84,0 . 0/1:99:210,0,202 11 72421581 rs148377320 C T NON_SYNONYMOUS_CODING ARAP1 MODERATE|MISSENSE|cGt/cAt|R177H|1133|ARAP1|protein_coding|CODING|ENST00000429686|exon_11_72421430_72421632 . 0/1:99:255,0,184 . . 11 72421581 rs148377320 C T NON_SYNONYMOUS_CODING ARAP1 MODERATE|MISSENSE|cGt/cAt|R177H|1194|ARAP1|protein_coding|CODING|ENST00000426523|exon_11_72421430_72421632 . 0/1:99:255,0,184 . . 11 72421581 rs148377320 C T NON_SYNONYMOUS_CODING ARAP1 MODERATE|MISSENSE|cGt/cAt|R177H|1205|ARAP1|protein_coding|CODING|ENST00000334211|exon_11_72421430_72421632 . 0/1:99:255,0,184 . . 11 72421581 rs148377320 C T NON_SYNONYMOUS_CODING ARAP1 MODERATE|MISSENSE|cGt/cAt|R182H|1210|ARAP1|protein_coding|CODING|ENST00000393605|exon_11_72421430_72421632 . 0/1:99:255,0,184 . . 11 72421581 rs148377320 C T NON_SYNONYMOUS_CODING ARAP1 MODERATE|MISSENSE|cGt/cAt|R211H|627|ARAP1|protein_coding|CODING|ENST00000340247|exon_11_72421430_72421632 . 0/1:99:255,0,184 . . 11 72421581 rs148377320 C T NON_SYNONYMOUS_CODING ARAP1 MODERATE|MISSENSE|cGt/cAt|R422H|1439|ARAP1|protein_coding|CODING|ENST00000359373|exon_11_72421430_72421632 . 0/1:99:255,0,184 . . 11 72421581 rs148377320 C T NON_SYNONYMOUS_CODING ARAP1 MODERATE|MISSENSE|cGt/cAt|R422H|1439|ARAP1|protein_coding|CODING|ENST00000455638|exon_11_72421430_72421632 . 0/1:99:255,0,184 . . 11 72421581 rs148377320 C T NON_SYNONYMOUS_CODING ARAP1 MODERATE|MISSENSE|cGt/cAt|R422H|1450|ARAP1|protein_coding|CODING|ENST00000393609|exon_11_72421430_72421632 . 0/1:99:255,0,184 . . 11 73019814 . G A NON_SYNONYMOUS_CODING ARHGEF17 MODERATE|MISSENSE|tGc/tAc|C44Y|2063|ARHGEF17|protein_coding|CODING|ENST00000263674|exon_11_73019334_73022875 0/1:99:123,0,160 . . . 11 73020846 rs3741151 G T NON_SYNONYMOUS_CODING ARHGEF17 MODERATE|MISSENSE|cGc/cTc|R388L|2063|ARHGEF17|protein_coding|CODING|ENST00000263674|exon_11_73019334_73022875 . . 0/1:99:199,0,164 . 11 73611349 rs2067912 G C NON_SYNONYMOUS_CODING PAAF1 MODERATE|MISSENSE|tGt/tCt|C117S|149|PAAF1|protein_coding|CODING|ENST00000536582|exon_11_73611315_73611450 . 0/1:99:255,0,255 . . 11 73611349 rs2067912 G C NON_SYNONYMOUS_CODING PAAF1 MODERATE|MISSENSE|tGt/tCt|C122S|236|PAAF1|protein_coding|CODING|ENST00000504441|exon_11_73611315_73611465 . 0/1:99:255,0,255 . . 11 73611349 rs2067912 G C NON_SYNONYMOUS_CODING PAAF1 MODERATE|MISSENSE|tGt/tCt|C122S|246|PAAF1|protein_coding|CODING|ENST00000543814|exon_11_73611315_73611465 . 0/1:99:255,0,255 . . 11 73611349 rs2067912 G C NON_SYNONYMOUS_CODING PAAF1 MODERATE|MISSENSE|tGt/tCt|C122S|375|PAAF1|protein_coding|CODING|ENST00000376384|exon_11_73611315_73611465 . 0/1:99:255,0,255 . . 11 73611349 rs2067912 G C NON_SYNONYMOUS_CODING PAAF1 MODERATE|MISSENSE|tGt/tCt|C122S|375|PAAF1|protein_coding|CODING|ENST00000536003|exon_11_73611315_73611465 . 0/1:99:255,0,255 . . 11 73611349 rs2067912 G C NON_SYNONYMOUS_CODING PAAF1 MODERATE|MISSENSE|tGt/tCt|C122S|375|PAAF1|protein_coding|CODING|ENST00000544552|exon_11_73611315_73611465 . 0/1:99:255,0,255 . . 11 73611349 rs2067912 G C NON_SYNONYMOUS_CODING PAAF1 MODERATE|MISSENSE|tGt/tCt|C139S|392|PAAF1|protein_coding|CODING|ENST00000310571|exon_11_73611315_73611465 . 0/1:99:255,0,255 . . 11 73611349 rs2067912 G C NON_SYNONYMOUS_CODING PAAF1 MODERATE|MISSENSE|tGt/tCt|C140S|393|PAAF1|protein_coding|CODING|ENST00000544909|exon_11_73611315_73611465 . 0/1:99:255,0,255 . . 11 73611349 rs2067912 G C NON_SYNONYMOUS_CODING PAAF1 MODERATE|MISSENSE|tGt/tCt|C24S|277|PAAF1|protein_coding|CODING|ENST00000535604|exon_11_73611315_73611465 . 0/1:99:255,0,255 . . 11 73611349 rs2067912 G C NON_SYNONYMOUS_CODING PAAF1 MODERATE|MISSENSE|tGt/tCt|C24S|277|PAAF1|protein_coding|CODING|ENST00000541951|exon_11_73611315_73611465 . 0/1:99:255,0,255 . . 11 73611349 rs2067912 G C NON_SYNONYMOUS_CODING PAAF1 MODERATE|MISSENSE|tGt/tCt|C24S|99|PAAF1|protein_coding|CODING|ENST00000542293|exon_11_73611315_73611465 . 0/1:99:255,0,255 . . 11 73806443 rs11235995 C T NON_SYNONYMOUS_CODING C2CD3 MODERATE|MISSENSE|cGa/cAa|R997Q|1860|C2CD3|protein_coding|CODING|ENST00000313681|exon_11_73806273_73806453 . 0/1:99:255,0,255 . . 11 73806443 rs11235995 C T NON_SYNONYMOUS_CODING C2CD3 MODERATE|MISSENSE|cGa/cAa|R997Q|1963|C2CD3|protein_coding|CODING|ENST00000313663|exon_11_73806273_73806453 . 0/1:99:255,0,255 . . 11 73806443 rs11235995 C T NON_SYNONYMOUS_CODING C2CD3 MODERATE|MISSENSE|cGa/cAa|R997Q|2353|C2CD3|protein_coding|CODING|ENST00000334126|exon_11_73806273_73806453 . 0/1:99:255,0,255 . . 11 73825582 . G A NON_SYNONYMOUS_CODING C2CD3 MODERATE|MISSENSE|aCa/aTa|T526I|1860|C2CD3|protein_coding|CODING|ENST00000313681|exon_11_73825429_73825638 . 0/1:99:122,0,255 . . 11 73825582 . G A NON_SYNONYMOUS_CODING C2CD3 MODERATE|MISSENSE|aCa/aTa|T526I|1963|C2CD3|protein_coding|CODING|ENST00000313663|exon_11_73825429_73825638 . 0/1:99:122,0,255 . . 11 73825582 . G A NON_SYNONYMOUS_CODING C2CD3 MODERATE|MISSENSE|aCa/aTa|T526I|2353|C2CD3|protein_coding|CODING|ENST00000334126|exon_11_73825429_73825638 . 0/1:99:122,0,255 . . 11 73840799 rs11236012 T G NON_SYNONYMOUS_CODING C2CD3 MODERATE|MISSENSE|Atc/Ctc|I436L|506|C2CD3|protein_coding|CODING|ENST00000539061|exon_11_73839575_73840887 . 0/1:82:79,0,92 . . 11 73840805 . G A NON_SYNONYMOUS_CODING C2CD3 MODERATE|MISSENSE|Cgt/Tgt|R434C|506|C2CD3|protein_coding|CODING|ENST00000539061|exon_11_73839575_73840887 0/1:79:76,0,118 . 0/1:99:127,0,213 . 11 73840841 rs3018187 C A NON_SYNONYMOUS_CODING C2CD3 MODERATE|MISSENSE|Gca/Tca|A422S|506|C2CD3|protein_coding|CODING|ENST00000539061|exon_11_73839575_73840887 . 0/1:93:91,0,100 . . 11 73988167 rs2282488 C T NON_SYNONYMOUS_CODING P4HA3 MODERATE|MISSENSE|Gac/Aac|D400N|544|P4HA3|protein_coding|CODING|ENST00000331597|exon_11_73988030_73988189 . 0/1:99:234,0,190 . . 11 73988167 rs2282488 C T NON_SYNONYMOUS_CODING P4HA3 MODERATE|MISSENSE|Gac/Aac|D400N|604|P4HA3|protein_coding|CODING|ENST00000427714|exon_11_73988030_73988189 . 0/1:99:234,0,190 . . 11 74047743 rs36014178 T A NON_SYNONYMOUS_CODING PGM2L1 MODERATE|MISSENSE|aAt/aTt|N608I|622|PGM2L1|protein_coding|CODING|ENST00000298198|exon_11_74041363_74047799 . . . 0/1:99:255,0,255 11 74109166 rs12049823 A G NON_SYNONYMOUS_CODING PGM2L1 MODERATE|MISSENSE|cTc/cCc|L14P|622|PGM2L1|protein_coding|CODING|ENST00000298198|exon_11_74109096_74109518 . 0/1:99:146,0,203 . . 11 74168361 rs17215437 C T NON_SYNONYMOUS_CODING KCNE3 MODERATE|MISSENSE|cGc/cAc|R83H|103|KCNE3|protein_coding|CODING|ENST00000310128|exon_11_74165886_74168648 . . 0/1:99:255,0,255 . 11 74168361 rs17215437 C T NON_SYNONYMOUS_CODING KCNE3 MODERATE|MISSENSE|cGc/cAc|R83H|103|KCNE3|protein_coding|CODING|ENST00000525550|exon_11_74168127_74168648 . . 0/1:99:255,0,255 . 11 74168361 rs17215437 C T NON_SYNONYMOUS_CODING KCNE3 MODERATE|MISSENSE|cGc/cAc|R83H|98|KCNE3|protein_coding|CODING|ENST00000532569|exon_11_74168311_74168648 . . 0/1:99:255,0,255 . 11 74204591 rs60455691 G A NON_SYNONYMOUS_CODING LIPT2 MODERATE|MISSENSE|gCg/gTg|A53V|231|LIPT2|protein_coding|CODING|ENST00000310109|exon_11_74204283_74204778 . 0/1:99:184,0,243 . . 11 74554495 rs200561399 G A NON_SYNONYMOUS_CODING XRRA1 MODERATE|MISSENSE|gCt/gTt|A435V|517|XRRA1|protein_coding|CODING|ENST00000321448|exon_11_74551955_74554498 . . 0/1:99:215,0,196 . 11 74554495 rs200561399 G A NON_SYNONYMOUS_CODING XRRA1 MODERATE|MISSENSE|gCt/gTt|A654V|736|XRRA1|protein_coding|CODING|ENST00000398418|exon_11_74551956_74554498 . . 0/1:99:215,0,196 . 11 74554495 rs200561399 G A NON_SYNONYMOUS_CODING XRRA1 MODERATE|MISSENSE|gCt/gTt|A696V|778|XRRA1|protein_coding|CODING|ENST00000344880|exon_11_74551956_74554498 . . 0/1:99:215,0,196 . 11 74554495 rs200561399 G A NON_SYNONYMOUS_CODING XRRA1 MODERATE|MISSENSE|gCt/gTt|A710V|792|XRRA1|protein_coding|CODING|ENST00000340360|exon_11_74551275_74554498 . . 0/1:99:215,0,196 . 11 74883577 rs12422149 G A NON_SYNONYMOUS_CODING SLCO2B1 MODERATE|MISSENSE|cGa/cAa|R168Q|565|SLCO2B1|protein_coding|CODING|ENST00000525650|exon_11_74883424_74883614 . 0/1:99:251,0,213 . 0/1:99:231,0,188 11 74883577 rs12422149 G A NON_SYNONYMOUS_CODING SLCO2B1 MODERATE|MISSENSE|cGa/cAa|R196Q|593|SLCO2B1|protein_coding|CODING|ENST00000532236|exon_11_74883424_74883614 . 0/1:99:251,0,213 . 0/1:99:231,0,188 11 74883577 rs12422149 G A NON_SYNONYMOUS_CODING SLCO2B1 MODERATE|MISSENSE|cGa/cAa|R290Q|687|SLCO2B1|protein_coding|CODING|ENST00000428359|exon_11_74883424_74883614 . 0/1:99:251,0,213 . 0/1:99:231,0,188 11 74883577 rs12422149 G A NON_SYNONYMOUS_CODING SLCO2B1 MODERATE|MISSENSE|cGa/cAa|R312Q|709|SLCO2B1|protein_coding|CODING|ENST00000289575|exon_11_74883424_74883614 . 0/1:99:251,0,213 . 0/1:99:231,0,188 11 74883577 rs12422149 G A NON_SYNONYMOUS_CODING SLCO2B1 MODERATE|MISSENSE|cGa/cAa|R57Q|365|SLCO2B1|protein_coding|CODING|ENST00000531756|exon_11_74883424_74883614 . 0/1:99:251,0,213 . 0/1:99:231,0,188 11 74883577 rs12422149 G A NON_SYNONYMOUS_CODING SLCO2B1 MODERATE|MISSENSE|cGa/cAa|R85Q|482|SLCO2B1|protein_coding|CODING|ENST00000341411|exon_11_74883424_74883614 . 0/1:99:251,0,213 . 0/1:99:231,0,188 11 74883577 rs12422149 G A NON_SYNONYMOUS_CODING SLCO2B1 MODERATE|MISSENSE|cGa/cAa|R85Q|482|SLCO2B1|protein_coding|CODING|ENST00000454962|exon_11_74883424_74883614 . 0/1:99:251,0,213 . 0/1:99:231,0,188 11 75526481 rs7118567 C A NON_SYNONYMOUS_CODING UVRAG MODERATE|MISSENSE|cCc/cAc|P10H|699|UVRAG|protein_coding|CODING|ENST00000356136|exon_11_75526212_75526569 . 0/1:99:179,0,207 . . 11 76507644 rs12805508 G C NON_SYNONYMOUS_CODING TSKU MODERATE|MISSENSE|agG/agC|R296S|321|TSKU|protein_coding|CODING|ENST00000439807|exon_11_76507050_76509178 . . 0/1:99:255,0,170 . 11 76507644 rs12805508 G C NON_SYNONYMOUS_CODING TSKU MODERATE|MISSENSE|agG/agC|R328S|353|TSKU|protein_coding|CODING|ENST00000333090|exon_11_76506653_76509198 . . 0/1:99:255,0,170 . 11 76507644 rs12805508 G C NON_SYNONYMOUS_CODING TSKU MODERATE|MISSENSE|agG/agC|R328S|353|TSKU|protein_coding|CODING|ENST00000527881|exon_11_76506653_76509188 . . 0/1:99:255,0,170 . 11 76726103 rs141925215 A G NON_SYNONYMOUS_CODING ACER3 MODERATE|MISSENSE|Ata/Gta|I139V|189|ACER3|protein_coding|CODING|ENST00000530243|exon_11_76726060_76726161 . 0/1:99:255,0,224 . . 11 76726103 rs141925215 A G NON_SYNONYMOUS_CODING ACER3 MODERATE|MISSENSE|Ata/Gta|I139V|204|ACER3|protein_coding|CODING|ENST00000534206|exon_11_76726060_76726161 . 0/1:99:255,0,224 . . 11 76726103 rs141925215 A G NON_SYNONYMOUS_CODING ACER3 MODERATE|MISSENSE|Ata/Gta|I139V|225|ACER3|protein_coding|CODING|ENST00000538157|exon_11_76726060_76726161 . 0/1:99:255,0,224 . . 11 76726103 rs141925215 A G NON_SYNONYMOUS_CODING ACER3 MODERATE|MISSENSE|Ata/Gta|I144V|230|ACER3|protein_coding|CODING|ENST00000533873|exon_11_76726060_76726161 . 0/1:99:255,0,224 . . 11 76726103 rs141925215 A G NON_SYNONYMOUS_CODING ACER3 MODERATE|MISSENSE|Ata/Gta|I181V|267|ACER3|protein_coding|CODING|ENST00000532485|exon_11_76726060_76726161 . 0/1:99:255,0,224 . . 11 76726103 rs141925215 A G NON_SYNONYMOUS_CODING ACER3 MODERATE|MISSENSE|Ata/Gta|I48V|134|ACER3|protein_coding|CODING|ENST00000544113|exon_11_76726060_76726161 . 0/1:99:255,0,224 . . 11 76726103 rs141925215 A G NON_SYNONYMOUS_CODING ACER3 MODERATE|MISSENSE|Ata/Gta|I86V|172|ACER3|protein_coding|CODING|ENST00000526597|exon_11_76726060_76726161 . 0/1:99:255,0,224 . . 11 76751166 rs73493606 G A NON_SYNONYMOUS_CODING B3GNT6 MODERATE|MISSENSE|Gcg/Acg|A102T|263|B3GNT6|protein_coding|CODING|ENST00000421061|exon_11_76751020_76751459 . 0/1:99:181,0,141 . . 11 76751166 rs73493606 G A NON_SYNONYMOUS_CODING B3GNT6 MODERATE|MISSENSE|Gcg/Acg|A191T|384|B3GNT6|protein_coding|CODING|ENST00000354301|exon_11_76750596_76751540 . 0/1:99:181,0,141 . . 11 76751166 rs73493606 G A NON_SYNONYMOUS_CODING B3GNT6 MODERATE|MISSENSE|Gcg/Acg|A191T|385|B3GNT6|protein_coding|CODING|ENST00000533140|exon_11_76750596_76753096 . 0/1:99:181,0,141 . . 11 76910816 rs139889944 G A NON_SYNONYMOUS_CODING MYO7A MODERATE|MISSENSE|cGg/cAg|R1478Q|2091|MYO7A|protein_coding|CODING|ENST00000341717|exon_11_76910580_76910863 0/1:99:229,0,224 . . . 11 76910816 rs139889944 G A NON_SYNONYMOUS_CODING MYO7A MODERATE|MISSENSE|cGg/cAg|R1553Q|2166|MYO7A|protein_coding|CODING|ENST00000409619|exon_11_76910694_76910863 0/1:99:229,0,224 . . . 11 76910816 rs139889944 G A NON_SYNONYMOUS_CODING MYO7A MODERATE|MISSENSE|cGg/cAg|R1564Q|2175|MYO7A|protein_coding|CODING|ENST00000458637|exon_11_76910694_76910863 0/1:99:229,0,224 . . . 11 76910816 rs139889944 G A NON_SYNONYMOUS_CODING MYO7A MODERATE|MISSENSE|cGg/cAg|R1571Q|2184|MYO7A|protein_coding|CODING|ENST00000343356|exon_11_76910580_76910863 0/1:99:229,0,224 . . . 11 76910816 rs139889944 G A NON_SYNONYMOUS_CODING MYO7A MODERATE|MISSENSE|cGg/cAg|R1601Q|2214|MYO7A|protein_coding|CODING|ENST00000358342|exon_11_76910580_76910863 0/1:99:229,0,224 . . . 11 76910816 rs139889944 G A NON_SYNONYMOUS_CODING MYO7A MODERATE|MISSENSE|cGg/cAg|R1602Q|2215|MYO7A|protein_coding|CODING|ENST00000409709|exon_11_76910580_76910863 0/1:99:229,0,224 . . . 11 76910816 rs139889944 G A NON_SYNONYMOUS_CODING MYO7A MODERATE|MISSENSE|cGg/cAg|R217Q|843|MYO7A|protein_coding|CODING|ENST00000544424|exon_11_76910694_76910863 0/1:99:229,0,224 . . . 11 76910816 rs139889944 G A NON_SYNONYMOUS_CODING MYO7A MODERATE|MISSENSE|cGg/cAg|R745Q|1357|MYO7A|protein_coding|CODING|ENST00000458169|exon_11_76910694_76910863 0/1:99:229,0,224 . . . 11 76910816 rs139889944 G A NON_SYNONYMOUS_CODING MYO7A MODERATE|MISSENSE|cGg/cAg|R775Q|1388|MYO7A|protein_coding|CODING|ENST00000545136|exon_11_76910694_76910863 0/1:99:229,0,224 . . . 11 76919478 rs948962 C A NON_SYNONYMOUS_CODING MYO7A MODERATE|MISSENSE|Ctc/Atc|L1096I|1357|MYO7A|protein_coding|CODING|ENST00000458169|exon_11_76919475_76919562 1/1:99:255,57,0 . 0/1:99:252,0,255 0/1:99:161,0,255 11 76919478 rs948962 C A NON_SYNONYMOUS_CODING MYO7A MODERATE|MISSENSE|Ctc/Atc|L1127I|1388|MYO7A|protein_coding|CODING|ENST00000545136|exon_11_76919475_76919562 1/1:99:255,57,0 . 0/1:99:252,0,255 0/1:99:161,0,255 11 76919478 rs948962 C A NON_SYNONYMOUS_CODING MYO7A MODERATE|MISSENSE|Ctc/Atc|L1830I|2091|MYO7A|protein_coding|CODING|ENST00000341717|exon_11_76919475_76919562 1/1:99:255,57,0 . 0/1:99:252,0,255 0/1:99:161,0,255 11 76919478 rs948962 C A NON_SYNONYMOUS_CODING MYO7A MODERATE|MISSENSE|Ctc/Atc|L1905I|2166|MYO7A|protein_coding|CODING|ENST00000409619|exon_11_76919475_76919562 1/1:99:255,57,0 . 0/1:99:252,0,255 0/1:99:161,0,255 11 76919478 rs948962 C A NON_SYNONYMOUS_CODING MYO7A MODERATE|MISSENSE|Ctc/Atc|L1916I|2175|MYO7A|protein_coding|CODING|ENST00000458637|exon_11_76919475_76919562 1/1:99:255,57,0 . 0/1:99:252,0,255 0/1:99:161,0,255 11 76919478 rs948962 C A NON_SYNONYMOUS_CODING MYO7A MODERATE|MISSENSE|Ctc/Atc|L1923I|2184|MYO7A|protein_coding|CODING|ENST00000343356|exon_11_76919475_76919562 1/1:99:255,57,0 . 0/1:99:252,0,255 0/1:99:161,0,255 11 76919478 rs948962 C A NON_SYNONYMOUS_CODING MYO7A MODERATE|MISSENSE|Ctc/Atc|L1953I|2214|MYO7A|protein_coding|CODING|ENST00000358342|exon_11_76919475_76919562 1/1:99:255,57,0 . 0/1:99:252,0,255 0/1:99:161,0,255 11 76919478 rs948962 C A NON_SYNONYMOUS_CODING MYO7A MODERATE|MISSENSE|Ctc/Atc|L1954I|2215|MYO7A|protein_coding|CODING|ENST00000409709|exon_11_76919475_76919562 1/1:99:255,57,0 . 0/1:99:252,0,255 0/1:99:161,0,255 11 76919478 rs948962 C A NON_SYNONYMOUS_CODING MYO7A MODERATE|MISSENSE|Ctc/Atc|L569I|843|MYO7A|protein_coding|CODING|ENST00000544424|exon_11_76919475_76919562 1/1:99:255,57,0 . 0/1:99:252,0,255 0/1:99:161,0,255 11 76923017 rs3819170 G A NON_SYNONYMOUS_CODING MYO7A MODERATE|MISSENSE|gGg/gAg|G745E|843|MYO7A|protein_coding|CODING|ENST00000544424|exon_11_76922866_76923315 0/1:99:255,0,255 . . 0/1:99:193,0,231 11 77301341 rs2276415 G A NON_SYNONYMOUS_CODING AQP11 MODERATE|MISSENSE|Ggc/Agc|G102S|271|AQP11|protein_coding|CODING|ENST00000313578|exon_11_77300680_77301656 . . 0/1:99:255,0,252 . 11 77583266 rs2186564 G A NON_SYNONYMOUS_CODING C11orf67 MODERATE|MISSENSE|Gtg/Atg|V111M|141|C11orf67|protein_coding|CODING|ENST00000525034|exon_11_77583221_77583398 . . 0/1:99:227,0,255 . 11 77583266 rs2186564 G A NON_SYNONYMOUS_CODING C11orf67 MODERATE|MISSENSE|Gtg/Atg|V138M|168|C11orf67|protein_coding|CODING|ENST00000533193|exon_11_77583221_77583400 . . 0/1:99:227,0,255 . 11 77583266 rs2186564 G A NON_SYNONYMOUS_CODING C11orf67 MODERATE|MISSENSE|Gtg/Atg|V60M|90|C11orf67|protein_coding|CODING|ENST00000525409|exon_11_77583221_77583398 . . 0/1:99:227,0,255 . 11 77583266 rs2186564 G A NON_SYNONYMOUS_CODING C11orf67 MODERATE|MISSENSE|Gtg/Atg|V92M|122|C11orf67|protein_coding|CODING|ENST00000393427|exon_11_77583221_77583407 . . 0/1:99:227,0,255 . 11 77583266 rs2186564 G A NON_SYNONYMOUS_CODING C11orf67 MODERATE|MISSENSE|Gtg/Atg|V92M|122|C11orf67|protein_coding|CODING|ENST00000526415|exon_11_77583221_77583398 . . 0/1:99:227,0,255 . 11 78449583 rs76283314 G A NON_SYNONYMOUS_CODING ODZ4 MODERATE|MISSENSE|aCa/aTa|T930I|2769|ODZ4|protein_coding|CODING|ENST00000278550|exon_11_78449496_78449615 . 0/1:99:255,0,255 . . 11 82536108 rs2228312 G C NON_SYNONYMOUS_CODING PRCP MODERATE|MISSENSE|aCt/aGt|T339S|391|PRCP|protein_coding|CODING|ENST00000535099|exon_11_82535832_82536164 . 0/1:99:255,0,199 . . 11 82536108 rs2228312 G C NON_SYNONYMOUS_CODING PRCP MODERATE|MISSENSE|aCt/aGt|T444S|496|PRCP|protein_coding|CODING|ENST00000313010|exon_11_82534544_82536164 . 0/1:99:255,0,199 . . 11 82536108 rs2228312 G C NON_SYNONYMOUS_CODING PRCP MODERATE|MISSENSE|aCt/aGt|T465S|517|PRCP|protein_coding|CODING|ENST00000393399|exon_11_82535410_82536164 . 0/1:99:255,0,199 . . 11 85420401 rs61740616 G A NON_SYNONYMOUS_CODING SYTL2 MODERATE|MISSENSE|gCg/gTg|A100V|102|SYTL2|protein_coding|CODING|ENST00000526999|exon_11_85420390_85420543 . . . 0/1:99:227,0,237 11 85420401 rs61740616 G A NON_SYNONYMOUS_CODING SYTL2 MODERATE|MISSENSE|gCg/gTg|A100V|154|SYTL2|protein_coding|CODING|ENST00000529534|exon_11_85420374_85420543 . . . 0/1:99:227,0,237 11 85420401 rs61740616 G A NON_SYNONYMOUS_CODING SYTL2 MODERATE|MISSENSE|gCg/gTg|A100V|376|SYTL2|protein_coding|CODING|ENST00000525702|exon_11_85420374_85420543 . . . 0/1:99:227,0,237 11 85420401 rs61740616 G A NON_SYNONYMOUS_CODING SYTL2 MODERATE|MISSENSE|gCg/gTg|A100V|376|SYTL2|protein_coding|CODING|ENST00000529581|exon_11_85420374_85420543 . . . 0/1:99:227,0,237 11 85420401 rs61740616 G A NON_SYNONYMOUS_CODING SYTL2 MODERATE|MISSENSE|gCg/gTg|A1504V|1780|SYTL2|protein_coding|CODING|ENST00000359152|exon_11_85420374_85420543 . . . 0/1:99:227,0,237 11 85420401 rs61740616 G A NON_SYNONYMOUS_CODING SYTL2 MODERATE|MISSENSE|gCg/gTg|A153V|156|SYTL2|protein_coding|CODING|ENST00000534414|exon_11_85420387_85420543 . . . 0/1:99:227,0,237 11 85420401 rs61740616 G A NON_SYNONYMOUS_CODING SYTL2 MODERATE|MISSENSE|gCg/gTg|A24V|123|SYTL2|protein_coding|CODING|ENST00000533057|exon_11_85420374_85420420 . . . 0/1:99:227,0,237 11 85420401 rs61740616 G A NON_SYNONYMOUS_CODING SYTL2 MODERATE|MISSENSE|gCg/gTg|A375V|651|SYTL2|protein_coding|CODING|ENST00000530351|exon_11_85420374_85420543 . . . 0/1:99:227,0,237 11 85420401 rs61740616 G A NON_SYNONYMOUS_CODING SYTL2 MODERATE|MISSENSE|gCg/gTg|A60V|159|SYTL2|protein_coding|CODING|ENST00000527794|exon_11_85420374_85420543 . . . 0/1:99:227,0,237 11 85420401 rs61740616 G A NON_SYNONYMOUS_CODING SYTL2 MODERATE|MISSENSE|gCg/gTg|A60V|336|SYTL2|protein_coding|CODING|ENST00000533892|exon_11_85420374_85420543 . . . 0/1:99:227,0,237 11 85420401 rs61740616 G A NON_SYNONYMOUS_CODING SYTL2 MODERATE|MISSENSE|gCg/gTg|A626V|902|SYTL2|protein_coding|CODING|ENST00000527523|exon_11_85420374_85420543 . . . 0/1:99:227,0,237 11 85420401 rs61740616 G A NON_SYNONYMOUS_CODING SYTL2 MODERATE|MISSENSE|gCg/gTg|A634V|910|SYTL2|protein_coding|CODING|ENST00000389960|exon_11_85420374_85420543 . . . 0/1:99:227,0,237 11 85420401 rs61740616 G A NON_SYNONYMOUS_CODING SYTL2 MODERATE|MISSENSE|gCg/gTg|A634V|910|SYTL2|protein_coding|CODING|ENST00000524452|exon_11_85420374_85420543 . . . 0/1:99:227,0,237 11 85420401 rs61740616 G A NON_SYNONYMOUS_CODING SYTL2 MODERATE|MISSENSE|gCg/gTg|A658V|934|SYTL2|protein_coding|CODING|ENST00000528231|exon_11_85420374_85420543 . . . 0/1:99:227,0,237 11 85420401 rs61740616 G A NON_SYNONYMOUS_CODING SYTL2 MODERATE|MISSENSE|gCg/gTg|A659V|935|SYTL2|protein_coding|CODING|ENST00000316356|exon_11_85420374_85420543 . . . 0/1:99:227,0,237 11 85420401 rs61740616 G A NON_SYNONYMOUS_CODING SYTL2 MODERATE|MISSENSE|gCg/gTg|A89V|365|SYTL2|protein_coding|CODING|ENST00000389958|exon_11_85420374_85420543 . . . 0/1:99:227,0,237 11 85420401 rs61740616 G A NON_SYNONYMOUS_CODING SYTL2 MODERATE|MISSENSE|gCg/gTg|A980V|1256|SYTL2|protein_coding|CODING|ENST00000525423|exon_11_85420374_85420543 . . . 0/1:99:227,0,237 11 85420401 rs61740616 G A NON_SYNONYMOUS_CODING SYTL2 MODERATE|MISSENSE|gCg/gTg|A996V|1272|SYTL2|protein_coding|CODING|ENST00000354566|exon_11_85420374_85420543 . . . 0/1:99:227,0,237 11 85438188 rs199940366 C G NON_SYNONYMOUS_CODING SYTL2 MODERATE|MISSENSE|gGa/gCa|G295A|1780|SYTL2|protein_coding|CODING|ENST00000359152|exon_11_85435075_85439071 . . 0/1:99:255,0,255 . 11 85445734 rs35751209 T C NON_SYNONYMOUS_CODING SYTL2 MODERATE|MISSENSE|cAa/cGa|Q164R|902|SYTL2|protein_coding|CODING|ENST00000527523|exon_11_85444982_85445785 . . . 0/1:99:255,0,233 11 85445734 rs35751209 T C NON_SYNONYMOUS_CODING SYTL2 MODERATE|MISSENSE|cAa/cGa|Q212R|910|SYTL2|protein_coding|CODING|ENST00000389960|exon_11_85444982_85445785 . . . 0/1:99:255,0,233 11 85445734 rs35751209 T C NON_SYNONYMOUS_CODING SYTL2 MODERATE|MISSENSE|cAa/cGa|Q212R|910|SYTL2|protein_coding|CODING|ENST00000524452|exon_11_85444982_85445785 . . . 0/1:99:255,0,233 11 85445734 rs35751209 T C NON_SYNONYMOUS_CODING SYTL2 MODERATE|MISSENSE|cAa/cGa|Q212R|934|SYTL2|protein_coding|CODING|ENST00000528231|exon_11_85444982_85445785 . . . 0/1:99:255,0,233 11 85445734 rs35751209 T C NON_SYNONYMOUS_CODING SYTL2 MODERATE|MISSENSE|cAa/cGa|Q213R|935|SYTL2|protein_coding|CODING|ENST00000316356|exon_11_85444982_85445785 . . . 0/1:99:255,0,233 11 85564283 . G A NON_SYNONYMOUS_CODING AP000974.1 MODERATE|MISSENSE|tCt/tTt|S81F|198|AP000974.1|protein_coding|CODING|ENST00000544076|exon_11_85563600_85565986 . . . 0/1:99:255,0,215 11 85707896 rs34013602 C G NON_SYNONYMOUS_CODING PICALM MODERATE|MISSENSE|Gct/Cct|A360P|551|PICALM|protein_coding|CODING|ENST00000528398|exon_11_85707869_85707972 . . . 0/1:99:255,0,247 11 85707896 rs34013602 C G NON_SYNONYMOUS_CODING PICALM MODERATE|MISSENSE|Gct/Cct|A411P|610|PICALM|protein_coding|CODING|ENST00000532317|exon_11_85707869_85707972 . . . 0/1:99:255,0,247 11 85707896 rs34013602 C G NON_SYNONYMOUS_CODING PICALM MODERATE|MISSENSE|Gct/Cct|A411P|632|PICALM|protein_coding|CODING|ENST00000356360|exon_11_85707869_85707972 . . . 0/1:99:255,0,247 11 85707896 rs34013602 C G NON_SYNONYMOUS_CODING PICALM MODERATE|MISSENSE|Gct/Cct|A411P|645|PICALM|protein_coding|CODING|ENST00000526033|exon_11_85707869_85707972 . . . 0/1:99:255,0,247 11 85707896 rs34013602 C G NON_SYNONYMOUS_CODING PICALM MODERATE|MISSENSE|Gct/Cct|A411P|652|PICALM|protein_coding|CODING|ENST00000393346|exon_11_85707869_85707972 . . . 0/1:99:255,0,247 11 85707896 rs34013602 C G NON_SYNONYMOUS_CODING PICALM MODERATE|MISSENSE|Gct/Cct|A411P|652|PICALM|protein_coding|CODING|ENST00000447890|exon_11_85707869_85707972 . . . 0/1:99:255,0,247 11 89896537 rs80078229 A G NON_SYNONYMOUS_CODING NAALAD2 MODERATE|MISSENSE|Acc/Gcc|T286A|372|NAALAD2|protein_coding|CODING|ENST00000525171|exon_11_89896478_89896597 . 0/1:99:255,0,248 . . 11 89896537 rs80078229 A G NON_SYNONYMOUS_CODING NAALAD2 MODERATE|MISSENSE|Acc/Gcc|T346A|707|NAALAD2|protein_coding|CODING|ENST00000321955|exon_11_89896478_89896597 . 0/1:99:255,0,248 . . 11 89896537 rs80078229 A G NON_SYNONYMOUS_CODING NAALAD2 MODERATE|MISSENSE|Acc/Gcc|T379A|740|NAALAD2|protein_coding|CODING|ENST00000534061|exon_11_89896478_89896597 . 0/1:99:255,0,248 . . 11 92086513 rs10830902 C T NON_SYNONYMOUS_CODING FAT3 MODERATE|MISSENSE|tCt/tTt|S262F|4439|FAT3|protein_coding|CODING|ENST00000525166|exon_11_92085707_92088570 . . 0/1:99:255,0,255 . 11 92086513 rs10830902 C T NON_SYNONYMOUS_CODING FAT3 MODERATE|MISSENSE|tCt/tTt|S412F|1254|FAT3|protein_coding|CODING|ENST00000541502|exon_11_92085262_92088570 . . 0/1:99:255,0,255 . 11 92086513 rs10830902 C T NON_SYNONYMOUS_CODING FAT3 MODERATE|MISSENSE|tCt/tTt|S412F|4557|FAT3|protein_coding|CODING|ENST00000409404|exon_11_92085262_92088570 . . 0/1:99:255,0,255 . 11 92086513 rs10830902 C T NON_SYNONYMOUS_CODING FAT3 MODERATE|MISSENSE|tCt/tTt|S412F|4589|FAT3|protein_coding|CODING|ENST00000298047|exon_11_92085262_92088570 . . 0/1:99:255,0,255 . 11 93457532 rs78544176 C G NON_SYNONYMOUS_CODING KIAA1731 MODERATE|MISSENSE|gaC/gaG|D115E|578|KIAA1731|protein_coding|CODING|ENST00000531404|exon_11_93457420_93457541 0/1:99:255,0,221 . . . 11 93457532 rs78544176 C G NON_SYNONYMOUS_CODING KIAA1731 MODERATE|MISSENSE|gaC/gaG|D2103E|2601|KIAA1731|protein_coding|CODING|ENST00000325212|exon_11_93457420_93457541 0/1:99:255,0,221 . . . 11 93457532 rs78544176 C G NON_SYNONYMOUS_CODING KIAA1731 MODERATE|MISSENSE|gaC/gaG|D2103E|2602|KIAA1731|protein_coding|CODING|ENST00000411936|exon_11_93457420_93457541 0/1:99:255,0,221 . . . 11 93457532 rs78544176 C G NON_SYNONYMOUS_CODING KIAA1731 MODERATE|MISSENSE|gaC/gaG|D283E|781|KIAA1731|protein_coding|CODING|ENST00000344196|exon_11_93457420_93457541 0/1:99:255,0,221 . . . 11 93457532 rs78544176 C G NON_SYNONYMOUS_CODING KIAA1731 MODERATE|MISSENSE|gaC/gaG|D283E|781|KIAA1731|protein_coding|CODING|ENST00000531700|exon_11_93457420_93457541 0/1:99:255,0,221 . . . 11 93913036 rs12793348 A G NON_SYNONYMOUS_CODING PANX1 MODERATE|MISSENSE|Atc/Gtc|I272V|422|PANX1|protein_coding|CODING|ENST00000436171|exon_11_93912768_93913423 . . . 0/1:99:255,0,255 11 93913036 rs12793348 A G NON_SYNONYMOUS_CODING PANX1 MODERATE|MISSENSE|Atc/Gtc|I272V|426|PANX1|protein_coding|CODING|ENST00000227638|exon_11_93912768_93913423 . . . 0/1:99:255,0,255 11 94113466 rs3740868 G T NON_SYNONYMOUS_CODING GPR83 MODERATE|MISSENSE|cCa/cAa|P332Q|381|GPR83|protein_coding|CODING|ENST00000539203|exon_11_94113137_94113939 0/1:99:239,0,168 . . . 11 94113466 rs3740868 G T NON_SYNONYMOUS_CODING GPR83 MODERATE|MISSENSE|cCa/cAa|P374Q|423|GPR83|protein_coding|CODING|ENST00000243673|exon_11_94110477_94113939 0/1:99:239,0,168 . . . 11 94474134 rs72971737 C G NON_SYNONYMOUS_CODING AMOTL1 MODERATE|MISSENSE|tCc/tGc|S39C|144|AMOTL1|protein_coding|CODING|ENST00000299004|exon_11_94474104_94474154 . . . 0/1:99:153,0,198 11 94760132 rs61737617 G T NON_SYNONYMOUS_CODING KDM4DL MODERATE|MISSENSE|Gtt/Ttt|V471F|506|KDM4DL|protein_coding|CODING|ENST00000450979|exon_11_94758422_94760760 . . . 0/1:99:254,0,255 11 94861862 rs75384502 A G NON_SYNONYMOUS_CODING ENDOD1 MODERATE|MISSENSE|Aga/Gga|R208G|500|ENDOD1|protein_coding|CODING|ENST00000278505|exon_11_94861541_94865809 0/1:99:255,0,240 . . . 11 94862288 rs3740862 G A NON_SYNONYMOUS_CODING ENDOD1 MODERATE|MISSENSE|Gtg/Atg|V350M|500|ENDOD1|protein_coding|CODING|ENST00000278505|exon_11_94861541_94865809 . 0/1:99:252,0,255 . . 11 95825755 rs61749251 G C NON_SYNONYMOUS_CODING MAML2 MODERATE|MISSENSE|atC/atG|I480M|1156|MAML2|protein_coding|CODING|ENST00000440572|exon_11_95825056_95826681 0/1:99:152,0,171 . . . 11 95825755 rs61749251 G C NON_SYNONYMOUS_CODING MAML2 MODERATE|MISSENSE|atC/atG|I480M|1156|MAML2|protein_coding|CODING|ENST00000524717|exon_11_95825056_95826681 0/1:99:152,0,171 . . . 11 100820663 rs17647207 G A NON_SYNONYMOUS_CODING ARHGAP42 MODERATE|MISSENSE|Gcc/Acc|A346T|840|ARHGAP42|protein_coding|CODING|ENST00000524892|exon_11_100820648_100820687 . . . 1/1:99:255,117,0 11 100820663 rs17647207 G A NON_SYNONYMOUS_CODING ARHGAP42 MODERATE|MISSENSE|Gcc/Acc|A380T|874|ARHGAP42|protein_coding|CODING|ENST00000298815|exon_11_100820648_100820687 . . . 1/1:99:255,117,0 11 101359750 rs36111323 G A NON_SYNONYMOUS_CODING TRPC6 MODERATE|MISSENSE|gCg/gTg|A404V|853|TRPC6|protein_coding|CODING|ENST00000532133|exon_11_101359668_101359832 0/1:99:211,0,255 1/1:99:255,69,0 . . 11 101359750 rs36111323 G A NON_SYNONYMOUS_CODING TRPC6 MODERATE|MISSENSE|gCg/gTg|A404V|931|TRPC6|protein_coding|CODING|ENST00000344327|exon_11_101359668_101359832 0/1:99:211,0,255 1/1:99:255,69,0 . . 11 102201850 rs17881197 G A NON_SYNONYMOUS_CODING BIRC3 MODERATE|MISSENSE|aGa/aAa|R401K|604|BIRC3|protein_coding|CODING|ENST00000263464|exon_11_102201730_102201972 . . 0/1:99:255,0,250 . 11 102201850 rs17881197 G A NON_SYNONYMOUS_CODING BIRC3 MODERATE|MISSENSE|aGa/aAa|R401K|604|BIRC3|protein_coding|CODING|ENST00000532808|exon_11_102201730_102201972 . . 0/1:99:255,0,250 . 11 102248406 rs61754131 A G NON_SYNONYMOUS_CODING BIRC2 MODERATE|MISSENSE|Aaa/Gaa|K178E|181|BIRC2|protein_coding|CODING|ENST00000533742|exon_11_102248227_102248422 . 0/1:99:255,0,255 . . 11 102248406 rs61754131 A G NON_SYNONYMOUS_CODING BIRC2 MODERATE|MISSENSE|Aaa/Gaa|K467E|569|BIRC2|protein_coding|CODING|ENST00000530675|exon_11_102248227_102248481 . 0/1:99:255,0,255 . . 11 102248406 rs61754131 A G NON_SYNONYMOUS_CODING BIRC2 MODERATE|MISSENSE|Aaa/Gaa|K495E|597|BIRC2|protein_coding|CODING|ENST00000532672|exon_11_102248227_102248481 . 0/1:99:255,0,255 . . 11 102248406 rs61754131 A G NON_SYNONYMOUS_CODING BIRC2 MODERATE|MISSENSE|Aaa/Gaa|K516E|533|BIRC2|protein_coding|CODING|ENST00000541741|exon_11_102248227_102248447 . 0/1:99:255,0,255 . . 11 102248406 rs61754131 A G NON_SYNONYMOUS_CODING BIRC2 MODERATE|MISSENSE|Aaa/Gaa|K516E|618|BIRC2|protein_coding|CODING|ENST00000227758|exon_11_102248227_102248481 . 0/1:99:255,0,255 . . 11 102248406 rs61754131 A G NON_SYNONYMOUS_CODING BIRC2 MODERATE|MISSENSE|Aaa/Gaa|K51E|138|BIRC2|protein_coding|CODING|ENST00000531259|exon_11_102248227_102248481 . 0/1:99:255,0,255 . . 11 102567138 . G C NON_SYNONYMOUS_CODING MMP27 MODERATE|MISSENSE|aCa/aGa|T289R|513|MMP27|protein_coding|CODING|ENST00000260229|exon_11_102567102_102567222 0/1:99:255,0,230 . . . 11 102575379 rs61754772 T C NON_SYNONYMOUS_CODING MMP27 MODERATE|MISSENSE|aAa/aGa|K77R|513|MMP27|protein_coding|CODING|ENST00000260229|exon_11_102575268_102575506 0/1:99:255,0,255 . . . 11 102584104 rs35866072 T G NON_SYNONYMOUS_CODING MMP8 MODERATE|MISSENSE|aAa/aCa|K460T|467|MMP8|protein_coding|CODING|ENST00000236826|exon_11_102582526_102584188 . 0/1:99:255,0,255 . . 11 102595579 rs17099450 G C NON_SYNONYMOUS_CODING MMP8 MODERATE|MISSENSE|tCc/tGc|S3C|467|MMP8|protein_coding|CODING|ENST00000236826|exon_11_102595485_102595685 . . 0/1:99:255,0,255 . 11 102991668 rs142881106 C A NON_SYNONYMOUS_CODING DYNC2H1 MODERATE|MISSENSE|ttC/ttA|F421L|4307|DYNC2H1|protein_coding|CODING|ENST00000375735|exon_11_102991654_102991765 . 0/1:99:255,0,255 . . 11 102991668 rs142881106 C A NON_SYNONYMOUS_CODING DYNC2H1 MODERATE|MISSENSE|ttC/ttA|F421L|4314|DYNC2H1|protein_coding|CODING|ENST00000398093|exon_11_102991654_102991765 . 0/1:99:255,0,255 . . 11 102991668 rs142881106 C A NON_SYNONYMOUS_CODING DYNC2H1 MODERATE|MISSENSE|ttC/ttA|F421L|920|DYNC2H1|protein_coding|CODING|ENST00000334267|exon_11_102991654_102991765 . 0/1:99:255,0,255 . . 11 103047038 rs140391577 C T NON_SYNONYMOUS_CODING DYNC2H1 MODERATE|MISSENSE|Cgg/Tgg|R1917W|4307|DYNC2H1|protein_coding|CODING|ENST00000375735|exon_11_103046964_103047163 . 0/1:99:255,0,255 . . 11 103047038 rs140391577 C T NON_SYNONYMOUS_CODING DYNC2H1 MODERATE|MISSENSE|Cgg/Tgg|R1917W|4314|DYNC2H1|protein_coding|CODING|ENST00000398093|exon_11_103046964_103047163 . 0/1:99:255,0,255 . . 11 103175381 . C T NON_SYNONYMOUS_CODING DYNC2H1 MODERATE|MISSENSE|Cgc/Tgc|R18C|504|DYNC2H1|protein_coding|CODING|ENST00000540621|exon_11_103175324_103175449 . 0/1:99:176,0,255 . . 11 103175381 . C T NON_SYNONYMOUS_CODING DYNC2H1 MODERATE|MISSENSE|Cgc/Tgc|R3772C|4307|DYNC2H1|protein_coding|CODING|ENST00000375735|exon_11_103175324_103175449 . 0/1:99:176,0,255 . . 11 103175381 . C T NON_SYNONYMOUS_CODING DYNC2H1 MODERATE|MISSENSE|Cgc/Tgc|R3779C|4314|DYNC2H1|protein_coding|CODING|ENST00000398093|exon_11_103175324_103175449 . 0/1:99:176,0,255 . . 11 103907956 rs7102675 G A NON_SYNONYMOUS_CODING DDI1 MODERATE|MISSENSE|Ggc/Agc|G136S|396|DDI1|protein_coding|CODING|ENST00000302259|exon_11_103907308_103909922 . 0/1:99:249,0,184 . . 11 104877927 rs507879 T C NON_SYNONYMOUS_CODING CASP5 MODERATE|MISSENSE|Acc/Gcc|T106A|434|CASP5|protein_coding|CODING|ENST00000260315|exon_11_104877810_104878061 0/1:99:255,0,230 0/1:99:255,0,255 1/1:99:255,96,0 0/1:99:255,0,253 11 104877927 rs507879 T C NON_SYNONYMOUS_CODING CASP5 MODERATE|MISSENSE|Acc/Gcc|T119A|447|CASP5|protein_coding|CODING|ENST00000393141|exon_11_104877810_104878061 0/1:99:255,0,230 0/1:99:255,0,255 1/1:99:255,96,0 0/1:99:255,0,253 11 104877927 rs507879 T C NON_SYNONYMOUS_CODING CASP5 MODERATE|MISSENSE|Acc/Gcc|T119A|447|CASP5|protein_coding|CODING|ENST00000526056|exon_11_104877810_104878061 0/1:99:255,0,230 0/1:99:255,0,255 1/1:99:255,96,0 0/1:99:255,0,253 11 104877927 rs507879 T C NON_SYNONYMOUS_CODING CASP5 MODERATE|MISSENSE|Acc/Gcc|T48A|376|CASP5|protein_coding|CODING|ENST00000444749|exon_11_104877810_104878061 0/1:99:255,0,230 0/1:99:255,0,255 1/1:99:255,96,0 0/1:99:255,0,253 11 104877927 rs507879 T C NON_SYNONYMOUS_CODING CASP5 MODERATE|MISSENSE|Acc/Gcc|T73A|133|CASP5|protein_coding|CODING|ENST00000393139|exon_11_104877810_104878061 0/1:99:255,0,230 0/1:99:255,0,255 1/1:99:255,96,0 0/1:99:255,0,253 11 104877927 rs507879 T C NON_SYNONYMOUS_CODING CASP5 MODERATE|MISSENSE|Acc/Gcc|T90A|164|CASP5|protein_coding|CODING|ENST00000456094|exon_11_104877810_104878061 0/1:99:255,0,230 0/1:99:255,0,255 1/1:99:255,96,0 0/1:99:255,0,253 11 104912221 rs542571 T A NON_SYNONYMOUS_CODING CARD16 MODERATE|MISSENSE|aAc/aTc|N167I|197|CARD16|protein_coding|CODING|ENST00000375706|exon_11_104912053_104912446 . 0/1:99:255,0,255 . . 11 107643375 rs117359153 G A NON_SYNONYMOUS_CODING AP001024.2 MODERATE|MISSENSE|Gcc/Acc|A83T|105|AP001024.2|protein_coding|CODING|ENST00000447610|exon_11_107643129_107643398 0/1:99:227,0,215 . . . 11 108175462 rs1801516 G A NON_SYNONYMOUS_CODING ATM MODERATE|MISSENSE|Gat/Aat|D1853N|3056|ATM|protein_coding|CODING|ENST00000278616|exon_11_108175402_108175579 . 0/1:99:255,0,255 . . 11 108175462 rs1801516 G A NON_SYNONYMOUS_CODING ATM MODERATE|MISSENSE|Gat/Aat|D1853N|3056|ATM|protein_coding|CODING|ENST00000452508|exon_11_108175402_108175579 . 0/1:99:255,0,255 . . 11 108382303 rs877474 A G NON_SYNONYMOUS_CODING EXPH5 MODERATE|MISSENSE|Tgt/Cgt|C1123R|1191|EXPH5|protein_coding|CODING|ENST00000533052|exon_11_108382094_108385602 . 0/1:99:255,0,248 . . 11 108382303 rs877474 A G NON_SYNONYMOUS_CODING EXPH5 MODERATE|MISSENSE|Tgt/Cgt|C1123R|1801|EXPH5|protein_coding|CODING|ENST00000443411|exon_11_108376159_108385602 . 0/1:99:255,0,248 . . 11 108382303 rs877474 A G NON_SYNONYMOUS_CODING EXPH5 MODERATE|MISSENSE|Tgt/Cgt|C1235R|1732|EXPH5|protein_coding|CODING|ENST00000526312|exon_11_108380806_108385602 . 0/1:99:255,0,248 . . 11 108382303 rs877474 A G NON_SYNONYMOUS_CODING EXPH5 MODERATE|MISSENSE|Tgt/Cgt|C1235R|1913|EXPH5|protein_coding|CODING|ENST00000428840|exon_11_108376159_108385602 . 0/1:99:255,0,248 . . 11 108382303 rs877474 A G NON_SYNONYMOUS_CODING EXPH5 MODERATE|MISSENSE|Tgt/Cgt|C1304R|1982|EXPH5|protein_coding|CODING|ENST00000525344|exon_11_108379676_108385602 . 0/1:99:255,0,248 . . 11 108382303 rs877474 A G NON_SYNONYMOUS_CODING EXPH5 MODERATE|MISSENSE|Tgt/Cgt|C1311R|1989|EXPH5|protein_coding|CODING|ENST00000265843|exon_11_108376158_108385602 . 0/1:99:255,0,248 . . 11 110050628 . C T NON_SYNONYMOUS_CODING RDX MODERATE|MISSENSE|aGa/aAa|R331K|338|RDX|protein_coding|CODING|ENST00000429481|exon_11_110050603_110050642 0/1:59:56,0,248 . 0/1:74:71,0,166 . 11 110300857 . G A NON_SYNONYMOUS_CODING FDX1 MODERATE|MISSENSE|Ggg/Agg|G5R|184|FDX1|protein_coding|CODING|ENST00000260270|exon_11_110300607_110301029 . . 0/1:99:141,0,128 . 11 110300966 . G C NON_SYNONYMOUS_CODING FDX1 MODERATE|MISSENSE|cGg/cCg|R41P|184|FDX1|protein_coding|CODING|ENST00000260270|exon_11_110300607_110301029 . . 0/1:63:60,0,150 . 11 111365940 . C T NON_SYNONYMOUS_CODING BTG4 MODERATE|MISSENSE|Ggc/Agc|G204S|223|BTG4|protein_coding|CODING|ENST00000356018|exon_11_111365888_111366039 . . 0/1:99:214,0,238 . 11 111612783 rs115287852 T C NON_SYNONYMOUS_CODING PPP2R1B MODERATE|MISSENSE|Ata/Gta|I434V|440|PPP2R1B|protein_coding|CODING|ENST00000427203|exon_11_111612777_111612868 . . . 0/1:99:255,0,192 11 111612783 rs115287852 T C NON_SYNONYMOUS_CODING PPP2R1B MODERATE|MISSENSE|Ata/Gta|I468V|474|PPP2R1B|protein_coding|CODING|ENST00000393055|exon_11_111612777_111612868 . . . 0/1:99:255,0,192 11 111612783 rs115287852 T C NON_SYNONYMOUS_CODING PPP2R1B MODERATE|MISSENSE|Ata/Gta|I531V|603|PPP2R1B|protein_coding|CODING|ENST00000426998|exon_11_111612777_111612868 . . . 0/1:99:255,0,192 11 111612783 rs115287852 T C NON_SYNONYMOUS_CODING PPP2R1B MODERATE|MISSENSE|Ata/Gta|I550V|556|PPP2R1B|protein_coding|CODING|ENST00000341980|exon_11_111612777_111612868 . . . 0/1:99:255,0,192 11 111612783 rs115287852 T C NON_SYNONYMOUS_CODING PPP2R1B MODERATE|MISSENSE|Ata/Gta|I595V|601|PPP2R1B|protein_coding|CODING|ENST00000527614|exon_11_111612777_111612868 . . . 0/1:99:255,0,192 11 111612783 rs115287852 T C NON_SYNONYMOUS_CODING PPP2R1B MODERATE|MISSENSE|Ata/Gta|I595V|667|PPP2R1B|protein_coding|CODING|ENST00000311129|exon_11_111612777_111612868 . . . 0/1:99:255,0,192 11 113114313 rs61902540 C G NON_SYNONYMOUS_CODING NCAM1 MODERATE|MISSENSE|gCt/gGt|A656G|664|NCAM1|protein_coding|CODING|ENST00000401611|exon_11_113114274_113114341 . 0/1:99:255,0,255 . . 11 113570385 rs11601425 C T NON_SYNONYMOUS_CODING TMPRSS5 MODERATE|MISSENSE|cGa/cAa|R2Q|344|TMPRSS5|protein_coding|CODING|ENST00000544476|exon_11_113570317_113570415 0/1:99:171,0,167 . . . 11 113570385 rs11601425 C T NON_SYNONYMOUS_CODING TMPRSS5 MODERATE|MISSENSE|cGa/cAa|R2Q|413|TMPRSS5|protein_coding|CODING|ENST00000538955|exon_11_113570317_113570415 0/1:99:171,0,167 . . . 11 113570385 rs11601425 C T NON_SYNONYMOUS_CODING TMPRSS5 MODERATE|MISSENSE|cGa/cAa|R37Q|448|TMPRSS5|protein_coding|CODING|ENST00000545579|exon_11_113570317_113570415 0/1:99:171,0,167 . . . 11 113570385 rs11601425 C T NON_SYNONYMOUS_CODING TMPRSS5 MODERATE|MISSENSE|cGa/cAa|R46Q|388|TMPRSS5|protein_coding|CODING|ENST00000544634|exon_11_113570317_113570415 0/1:99:171,0,167 . . . 11 113570385 rs11601425 C T NON_SYNONYMOUS_CODING TMPRSS5 MODERATE|MISSENSE|cGa/cAa|R46Q|457|TMPRSS5|protein_coding|CODING|ENST00000299882|exon_11_113570317_113570415 0/1:99:171,0,167 . . . 11 113803666 rs17116138 G A NON_SYNONYMOUS_CODING HTR3B MODERATE|MISSENSE|Gta/Ata|V172I|430|HTR3B|protein_coding|CODING|ENST00000537778|exon_11_113803658_113803815 0/1:99:255,0,242 . . . 11 113803666 rs17116138 G A NON_SYNONYMOUS_CODING HTR3B MODERATE|MISSENSE|Gta/Ata|V183I|441|HTR3B|protein_coding|CODING|ENST00000260191|exon_11_113803658_113803815 0/1:99:255,0,242 . . . 11 113935094 rs142709090 G A NON_SYNONYMOUS_CODING ZBTB16 MODERATE|MISSENSE|Gtg/Atg|V358M|673|ZBTB16|protein_coding|CODING|ENST00000335953|exon_11_113933933_113935290 . 0/1:99:242,0,216 . . 11 113935094 rs142709090 G A NON_SYNONYMOUS_CODING ZBTB16 MODERATE|MISSENSE|Gtg/Atg|V358M|673|ZBTB16|protein_coding|CODING|ENST00000392996|exon_11_113933933_113935290 . 0/1:99:242,0,216 . . 11 114401611 rs7944960 A G NON_SYNONYMOUS_CODING FAM55A MODERATE|MISSENSE|tTa/tCa|L40S|120|FAM55A|protein_coding|CODING|ENST00000539878|exon_11_114401365_114401630 0/1:99:255,0,255 . . . 11 114401611 rs7944960 A G NON_SYNONYMOUS_CODING FAM55A MODERATE|MISSENSE|tTa/tCa|L40S|295|FAM55A|protein_coding|CODING|ENST00000536312|exon_11_114400897_114401630 0/1:99:255,0,255 . . . 11 114401611 rs7944960 A G NON_SYNONYMOUS_CODING FAM55A MODERATE|MISSENSE|tTa/tCa|L40S|547|FAM55A|protein_coding|CODING|ENST00000424269|exon_11_114400897_114401630 0/1:99:255,0,255 . . . 11 114401611 rs7944960 A G NON_SYNONYMOUS_CODING FAM55A MODERATE|MISSENSE|tTa/tCa|L40S|61|FAM55A|protein_coding|CODING|ENST00000534921|exon_11_114401543_114401630 0/1:99:255,0,255 . . . 11 116633947 rs10488698 G A NON_SYNONYMOUS_CODING BUD13 MODERATE|MISSENSE|Cgt/Tgt|R120C|485|BUD13|protein_coding|CODING|ENST00000375445|exon_11_116633671_116633982 . . 0/1:99:150,0,253 . 11 116633947 rs10488698 G A NON_SYNONYMOUS_CODING BUD13 MODERATE|MISSENSE|Cgt/Tgt|R120C|619|BUD13|protein_coding|CODING|ENST00000260210|exon_11_116633269_116633982 . . 0/1:99:150,0,253 . 11 116655859 rs140390701 C T NON_SYNONYMOUS_CODING ZNF259 MODERATE|MISSENSE|Gaa/Aaa|E237K|459|ZNF259|protein_coding|CODING|ENST00000227322|exon_11_116655815_116655862 . . 0/1:99:209,0,255 . 11 116661392 rs2075291 C A NON_SYNONYMOUS_CODING APOA5 MODERATE|MISSENSE|Ggc/Tgc|G185C|366|APOA5|protein_coding|CODING|ENST00000227665|exon_11_116660083_116661783 0/1:99:255,0,122 . . . 11 116661392 rs2075291 C A NON_SYNONYMOUS_CODING APOA5 MODERATE|MISSENSE|Ggc/Tgc|G185C|366|APOA5|protein_coding|CODING|ENST00000542499|exon_11_116660089_116661783 0/1:99:255,0,122 . . . 11 116691634 rs5110 C A NON_SYNONYMOUS_CODING APOA4 MODERATE|MISSENSE|caG/caT|Q380H|396|APOA4|protein_coding|CODING|ENST00000357780|exon_11_116691419_116692597 . . . 1/1:93:255,48,0 11 117225982 rs74761525 C T NON_SYNONYMOUS_CODING CEP164 MODERATE|MISSENSE|gCg/gTg|A197V|317|CEP164|protein_coding|CODING|ENST00000545330|exon_11_117225648_117226258 1/1:99:255,114,0 0/1:99:255,0,236 . . 11 117252437 rs117083334 A G NON_SYNONYMOUS_CODING CEP164 MODERATE|MISSENSE|cAc/cGc|H407R|841|CEP164|protein_coding|CODING|ENST00000375253|exon_11_117252417_117252584 . 0/1:99:255,0,225 . . 11 117252437 rs117083334 A G NON_SYNONYMOUS_CODING CEP164 MODERATE|MISSENSE|cAc/cGc|H451R|1126|CEP164|protein_coding|CODING|ENST00000529538|exon_11_117252417_117252584 . 0/1:99:255,0,225 . . 11 117252437 rs117083334 A G NON_SYNONYMOUS_CODING CEP164 MODERATE|MISSENSE|cAc/cGc|H477R|1460|CEP164|protein_coding|CODING|ENST00000278935|exon_11_117252417_117252584 . 0/1:99:255,0,225 . . 11 117266350 rs199637319 C G NON_SYNONYMOUS_CODING CEP164 MODERATE|MISSENSE|Ctt/Gtt|L1001V|1460|CEP164|protein_coding|CODING|ENST00000278935|exon_11_117266263_117266438 . 0/1:99:199,0,255 . . 11 117266350 rs199637319 C G NON_SYNONYMOUS_CODING CEP164 MODERATE|MISSENSE|Ctt/Gtt|L975V|1126|CEP164|protein_coding|CODING|ENST00000529538|exon_11_117266263_117266438 . 0/1:99:199,0,255 . . 11 117860305 rs4252303 G A NON_SYNONYMOUS_CODING IL10RA MODERATE|MISSENSE|Gtc/Atc|V113I|578|IL10RA|protein_coding|CODING|ENST00000227752|exon_11_117860157_117860335 . 0/1:99:255,0,171 . . 11 117860305 rs4252303 G A NON_SYNONYMOUS_CODING IL10RA MODERATE|MISSENSE|Gtc/Atc|V93I|499|IL10RA|protein_coding|CODING|ENST00000536858|exon_11_117860157_117860335 . 0/1:99:255,0,171 . . 11 117860305 rs4252303 G A NON_SYNONYMOUS_CODING IL10RA MODERATE|MISSENSE|Gtc/Atc|V93I|558|IL10RA|protein_coding|CODING|ENST00000541785|exon_11_117860157_117860335 . 0/1:99:255,0,171 . . 11 118023371 rs149979176 G T NON_SYNONYMOUS_CODING SCN4B MODERATE|MISSENSE|gaC/gaA|D6E|228|SCN4B|protein_coding|CODING|ENST00000324727|exon_11_118023328_118023535 . . . 0/1:99:183,0,189 11 118023371 rs149979176 G T NON_SYNONYMOUS_CODING SCN4B MODERATE|MISSENSE|gaC/gaA|D6E|94|SCN4B|protein_coding|CODING|ENST00000529878|exon_11_118023328_118023603 . . . 0/1:99:183,0,189 11 118757062 . A G NON_SYNONYMOUS_CODING RP11-158I9.5.1 MODERATE|MISSENSE|Ttt/Ctt|F53L|69|RP11-158I9.5.1|protein_coding|CODING|ENST00000498872|exon_11_118756550_118757963 . . . 0/1:99:177,0,149 11 118771747 rs34123504 A G NON_SYNONYMOUS_CODING BCL9L MODERATE|MISSENSE|gTg/gCg|V195A|745|BCL9L|protein_coding|CODING|ENST00000525300|exon_11_118771328_118772335 0/1:99:153,0,255 . . . 11 118771747 rs34123504 A G NON_SYNONYMOUS_CODING BCL9L MODERATE|MISSENSE|gTg/gCg|V865A|1462|BCL9L|protein_coding|CODING|ENST00000526143|exon_11_118771328_118773617 0/1:99:153,0,255 . . . 11 118771747 rs34123504 A G NON_SYNONYMOUS_CODING BCL9L MODERATE|MISSENSE|gTg/gCg|V902A|1395|BCL9L|protein_coding|CODING|ENST00000392849|exon_11_118771328_118773617 0/1:99:153,0,255 . . . 11 118771747 rs34123504 A G NON_SYNONYMOUS_CODING BCL9L MODERATE|MISSENSE|gTg/gCg|V902A|1454|BCL9L|protein_coding|CODING|ENST00000431085|exon_11_118771328_118773617 0/1:99:153,0,255 . . . 11 118771747 rs34123504 A G NON_SYNONYMOUS_CODING BCL9L MODERATE|MISSENSE|gTg/gCg|V902A|1499|BCL9L|protein_coding|CODING|ENST00000334801|exon_11_118771328_118773617 0/1:99:153,0,255 . . . 11 118772516 rs34752197 T C NON_SYNONYMOUS_CODING BCL9L MODERATE|MISSENSE|Atg/Gtg|M609V|1462|BCL9L|protein_coding|CODING|ENST00000526143|exon_11_118771328_118773617 0/1:99:189,0,187 . . . 11 118772516 rs34752197 T C NON_SYNONYMOUS_CODING BCL9L MODERATE|MISSENSE|Atg/Gtg|M646V|1395|BCL9L|protein_coding|CODING|ENST00000392849|exon_11_118771328_118773617 0/1:99:189,0,187 . . . 11 118772516 rs34752197 T C NON_SYNONYMOUS_CODING BCL9L MODERATE|MISSENSE|Atg/Gtg|M646V|1454|BCL9L|protein_coding|CODING|ENST00000431085|exon_11_118771328_118773617 0/1:99:189,0,187 . . . 11 118772516 rs34752197 T C NON_SYNONYMOUS_CODING BCL9L MODERATE|MISSENSE|Atg/Gtg|M646V|1499|BCL9L|protein_coding|CODING|ENST00000334801|exon_11_118771328_118773617 0/1:99:189,0,187 . . . 11 118772825 rs78780803 T C NON_SYNONYMOUS_CODING BCL9L MODERATE|MISSENSE|Agc/Ggc|S506G|1462|BCL9L|protein_coding|CODING|ENST00000526143|exon_11_118771328_118773617 0/1:88:131,0,85 . . . 11 118772825 rs78780803 T C NON_SYNONYMOUS_CODING BCL9L MODERATE|MISSENSE|Agc/Ggc|S543G|1395|BCL9L|protein_coding|CODING|ENST00000392849|exon_11_118771328_118773617 0/1:88:131,0,85 . . . 11 118772825 rs78780803 T C NON_SYNONYMOUS_CODING BCL9L MODERATE|MISSENSE|Agc/Ggc|S543G|1454|BCL9L|protein_coding|CODING|ENST00000431085|exon_11_118771328_118773617 0/1:88:131,0,85 . . . 11 118772825 rs78780803 T C NON_SYNONYMOUS_CODING BCL9L MODERATE|MISSENSE|Agc/Ggc|S543G|1499|BCL9L|protein_coding|CODING|ENST00000334801|exon_11_118771328_118773617 0/1:88:131,0,85 . . . 11 118849720 rs45602538 C G NON_SYNONYMOUS_CODING FOXR1 MODERATE|MISSENSE|Ccc/Gcc|P64A|292|FOXR1|protein_coding|CODING|ENST00000317011|exon_11_118849667_118849914 . 0/1:99:255,0,198 . . 11 118895686 rs8192696 C T NON_SYNONYMOUS_CODING TRAPPC4 MODERATE|MISSENSE|cCg/cTg|P234L|257|TRAPPC4|protein_coding|CODING|ENST00000533058|exon_11_118895567_118896164 . . . 0/1:99:255,0,228 11 118920050 rs35384663 C G NON_SYNONYMOUS_CODING HYOU1 MODERATE|MISSENSE|caG/caC|Q526H|559|HYOU1|protein_coding|CODING|ENST00000543287|exon_11_118919730_118920082 0/1:99:255,0,207 . . . 11 118980900 . G C NON_SYNONYMOUS_CODING C2CD2L MODERATE|MISSENSE|gaG/gaC|E147D|707|C2CD2L|protein_coding|CODING|ENST00000336702|exon_11_118980814_118980909 . 0/1:99:255,0,246 . . 11 118983434 rs2239896 C T NON_SYNONYMOUS_CODING C2CD2L MODERATE|MISSENSE|Cgg/Tgg|R161W|391|C2CD2L|protein_coding|CODING|ENST00000528586|exon_11_118983410_118983584 . . . 0/1:99:247,0,191 11 118983434 rs2239896 C T NON_SYNONYMOUS_CODING C2CD2L MODERATE|MISSENSE|Cgg/Tgg|R413W|707|C2CD2L|protein_coding|CODING|ENST00000336702|exon_11_118983410_118983584 . . . 0/1:99:247,0,191 11 119020719 rs113286118 C T NON_SYNONYMOUS_CODING ABCG4 MODERATE|MISSENSE|cCg/cTg|P15L|151|ABCG4|protein_coding|CODING|ENST00000524604|exon_11_119020664_119020913 . 0/1:99:183,0,131 . . 11 119020719 rs113286118 C T NON_SYNONYMOUS_CODING ABCG4 MODERATE|MISSENSE|cCg/cTg|P15L|646|ABCG4|protein_coding|CODING|ENST00000307417|exon_11_119020664_119020913 . 0/1:99:183,0,131 . . 11 119020719 rs113286118 C T NON_SYNONYMOUS_CODING ABCG4 MODERATE|MISSENSE|cCg/cTg|P15L|646|ABCG4|protein_coding|CODING|ENST00000449422|exon_11_119020664_119020913 . 0/1:99:183,0,131 . . 11 119020719 rs113286118 C T NON_SYNONYMOUS_CODING ABCG4 MODERATE|MISSENSE|cCg/cTg|P15L|646|ABCG4|protein_coding|CODING|ENST00000531739|exon_11_119020606_119020913 . 0/1:99:183,0,131 . . 11 119029058 rs192734017 G A NON_SYNONYMOUS_CODING ABCG4 MODERATE|MISSENSE|Ggg/Agg|G73R|120|ABCG4|protein_coding|CODING|ENST00000534402|exon_11_119028944_119029205 . . . 0/1:99:160,0,117 11 119057341 . A G NON_SYNONYMOUS_CODING PDZD3 MODERATE|MISSENSE|gAa/gGa|E157G|571|PDZD3|protein_coding|CODING|ENST00000392817|exon_11_119056872_119057399 0/1:99:116,0,245 . . . 11 119057341 . A G NON_SYNONYMOUS_CODING PDZD3 MODERATE|MISSENSE|gAa/gGa|E157G|571|PDZD3|protein_coding|CODING|ENST00000531114|exon_11_119056801_119057399 0/1:99:116,0,245 . . . 11 119057341 . A G NON_SYNONYMOUS_CODING PDZD3 MODERATE|MISSENSE|gAa/gGa|E78G|492|PDZD3|protein_coding|CODING|ENST00000525131|exon_11_119057188_119057399 0/1:99:116,0,245 . . . 11 119057341 . A G NON_SYNONYMOUS_CODING PDZD3 MODERATE|MISSENSE|gAa/gGa|E91G|491|PDZD3|protein_coding|CODING|ENST00000322712|exon_11_119057188_119057399 0/1:99:116,0,245 . . . 11 119057341 . A G NON_SYNONYMOUS_CODING PDZD3 MODERATE|MISSENSE|gAa/gGa|E91G|505|PDZD3|protein_coding|CODING|ENST00000355547|exon_11_119057188_119057399 0/1:99:116,0,245 . . . 11 119057341 . A G NON_SYNONYMOUS_CODING PDZD3 MODERATE|MISSENSE|gAa/gGa|E91G|505|PDZD3|protein_coding|CODING|ENST00000454065|exon_11_119057188_119057399 0/1:99:116,0,245 . . . 11 119185677 rs34587557 T C NON_SYNONYMOUS_CODING MCAM MODERATE|MISSENSE|gAg/gGg|E89G|646|MCAM|protein_coding|CODING|ENST00000264036|exon_11_119185543_119185750 . . 0/1:99:148,0,217 . 11 119879327 rs17245368 C T NON_SYNONYMOUS_CODING RP11-831A10.1.1 MODERATE|MISSENSE|cGt/cAt|R46H|49|RP11-831A10.1.1|protein_coding|CODING|ENST00000534423|exon_11_119879313_119879808 . 0/1:99:224,0,222 . 0/1:99:255,0,228 11 119986119 rs11604169 T C NON_SYNONYMOUS_CODING TRIM29 MODERATE|MISSENSE|tAt/tGt|Y110C|154|TRIM29|protein_coding|CODING|ENST00000524816|exon_11_119986046_119986122 0/1:99:214,0,255 . . . 11 119986119 rs11604169 T C NON_SYNONYMOUS_CODING TRIM29 MODERATE|MISSENSE|tAt/tGt|Y125C|169|TRIM29|protein_coding|CODING|ENST00000533302|exon_11_119986046_119986122 0/1:99:214,0,255 . . . 11 119986119 rs11604169 T C NON_SYNONYMOUS_CODING TRIM29 MODERATE|MISSENSE|tAt/tGt|Y277C|321|TRIM29|protein_coding|CODING|ENST00000541857|exon_11_119986046_119986122 0/1:99:214,0,255 . . . 11 119986119 rs11604169 T C NON_SYNONYMOUS_CODING TRIM29 MODERATE|MISSENSE|tAt/tGt|Y283C|327|TRIM29|protein_coding|CODING|ENST00000529044|exon_11_119986046_119986122 0/1:99:214,0,255 . . . 11 119986119 rs11604169 T C NON_SYNONYMOUS_CODING TRIM29 MODERATE|MISSENSE|tAt/tGt|Y544C|588|TRIM29|protein_coding|CODING|ENST00000341846|exon_11_119986046_119986122 0/1:99:214,0,255 . . . 11 119986119 rs11604169 T C NON_SYNONYMOUS_CODING TRIM29 MODERATE|MISSENSE|tAt/tGt|Y77C|121|TRIM29|protein_coding|CODING|ENST00000528870|exon_11_119986046_119986122 0/1:99:214,0,255 . . . 11 119986119 rs11604169 T C NON_SYNONYMOUS_CODING TRIM29 MODERATE|MISSENSE|tAt/tGt|Y79C|93|TRIM29|protein_coding|CODING|ENST00000526881|exon_11_119986072_119986122 0/1:99:214,0,255 . . . 11 120040581 rs11217738 G A NON_SYNONYMOUS_CODING AP000679.2.1 MODERATE|MISSENSE|Ggc/Agc|G22S|323|AP000679.2.1|protein_coding|CODING|ENST00000319763|exon_11_120040479_120042387 0/1:99:217,0,210 . . . 11 120040642 rs11217739 C G NON_SYNONYMOUS_CODING AP000679.2.1 MODERATE|MISSENSE|gCa/gGa|A42G|323|AP000679.2.1|protein_coding|CODING|ENST00000319763|exon_11_120040479_120042387 0/1:99:195,0,180 . . . 11 120040921 rs79782543 C T NON_SYNONYMOUS_CODING AP000679.2.1 MODERATE|MISSENSE|tCa/tTa|S135L|323|AP000679.2.1|protein_coding|CODING|ENST00000319763|exon_11_120040479_120042387 0/1:99:174,0,102 . . . 11 120040954 rs117785346 G A NON_SYNONYMOUS_CODING AP000679.2.1 MODERATE|MISSENSE|aGa/aAa|R146K|323|AP000679.2.1|protein_coding|CODING|ENST00000319763|exon_11_120040479_120042387 1/1:69:251,36,0 . . . 11 120097601 rs113497939 T G NON_SYNONYMOUS_CODING OAF MODERATE|MISSENSE|tTc/tGc|F148C|273|OAF|protein_coding|CODING|ENST00000328965|exon_11_120097525_120097705 . 0/1:99:255,0,204 . . 11 120097601 rs113497939 T G NON_SYNONYMOUS_CODING OAF MODERATE|MISSENSE|tTc/tGc|F32C|157|OAF|protein_coding|CODING|ENST00000531220|exon_11_120097525_120097705 . 0/1:99:255,0,204 . . 11 121028559 rs202199158 C A NON_SYNONYMOUS_CODING TECTA MODERATE|MISSENSE|Cta/Ata|L1439I|2155|TECTA|protein_coding|CODING|ENST00000264037|exon_11_121028550_121028933 0/1:99:255,0,120 . . . 11 121028559 rs202199158 C A NON_SYNONYMOUS_CODING TECTA MODERATE|MISSENSE|Cta/Ata|L1439I|2155|TECTA|protein_coding|CODING|ENST00000392793|exon_11_121028550_121028933 0/1:99:255,0,120 . . . 11 122646967 rs12790613 G A NON_SYNONYMOUS_CODING UBASH3B MODERATE|MISSENSE|Gca/Aca|A68T|649|UBASH3B|protein_coding|CODING|ENST00000284273|exon_11_122646927_122646980 . . 0/1:99:255,0,255 0/1:99:255,0,231 11 122827236 rs79071390 C A NON_SYNONYMOUS_CODING C11orf63 MODERATE|MISSENSE|gaC/gaA|D654E|778|C11orf63|protein_coding|CODING|ENST00000227349|exon_11_122827204_122827284 0/1:99:220,0,234 . . . 11 122827236 rs79071390 C A NON_SYNONYMOUS_CODING C11orf63 MODERATE|MISSENSE|gaC/gaA|D654E|778|C11orf63|protein_coding|CODING|ENST00000531316|exon_11_122827204_122827284 0/1:99:220,0,234 . . . 11 123624658 rs12364099 G T NON_SYNONYMOUS_CODING OR6X1 MODERATE|MISSENSE|aCc/aAc|T190N|312|OR6X1|protein_coding|CODING|ENST00000327930|exon_11_123624196_123625253 . 0/1:99:255,0,255 . 0/1:99:255,0,245 11 123753958 rs35551906 C T NON_SYNONYMOUS_CODING TMEM225 MODERATE|MISSENSE|Gaa/Aaa|E139K|149|TMEM225|protein_coding|CODING|ENST00000528595|exon_11_123753922_123754059 . . . 0/1:99:239,0,255 11 123753958 rs35551906 C T NON_SYNONYMOUS_CODING TMEM225 MODERATE|MISSENSE|Gaa/Aaa|E189K|225|TMEM225|protein_coding|CODING|ENST00000375026|exon_11_123753633_123754059 . . . 0/1:99:239,0,255 11 123777296 rs201007236 G A NON_SYNONYMOUS_CODING OR8D4 MODERATE|MISSENSE|cGt/cAt|R53H|314|OR8D4|protein_coding|CODING|ENST00000321355|exon_11_123777109_123778183 . 0/1:99:246,0,255 . . 11 123814439 rs140244798 A G NON_SYNONYMOUS_CODING OR6T1 MODERATE|MISSENSE|aTt/aCt|I36T|323|OR6T1|protein_coding|CODING|ENST00000321252|exon_11_123813492_123814580 0/1:99:255,0,169 . . . 11 123847473 rs55944888 A G NON_SYNONYMOUS_CODING OR10S1 MODERATE|MISSENSE|gTg/gCg|V309A|331|OR10S1|protein_coding|CODING|ENST00000531945|exon_11_123847368_123848488 0/1:99:255,0,255 0/1:99:255,0,255 . . 11 123848121 rs17686210 T C NON_SYNONYMOUS_CODING OR10S1 MODERATE|MISSENSE|aAg/aGg|K93R|331|OR10S1|protein_coding|CODING|ENST00000531945|exon_11_123847368_123848488 0/1:99:255,0,255 0/1:99:244,0,250 . . 11 123848212 rs17759513 C T NON_SYNONYMOUS_CODING OR10S1 MODERATE|MISSENSE|Ggc/Agc|G63S|331|OR10S1|protein_coding|CODING|ENST00000531945|exon_11_123847368_123848488 0/1:99:255,0,255 0/1:99:255,0,235 . . 11 123894339 rs12363627 C T NON_SYNONYMOUS_CODING OR10G9 MODERATE|MISSENSE|tCg/tTg|S207L|311|OR10G9|protein_coding|CODING|ENST00000375024|exon_11_123893720_123894655 . . 0/1:99:255,0,224 . 11 123989383 rs35215239 G A NON_SYNONYMOUS_CODING VWA5A MODERATE|MISSENSE|Gag/Aag|E205K|268|VWA5A|protein_coding|CODING|ENST00000524524|exon_11_123989240_123989415 0/1:99:255,0,255 . . . 11 123989383 rs35215239 G A NON_SYNONYMOUS_CODING VWA5A MODERATE|MISSENSE|Gag/Aag|E205K|268|VWA5A|protein_coding|CODING|ENST00000530025|exon_11_123989240_123989415 0/1:99:255,0,255 . . . 11 123989383 rs35215239 G A NON_SYNONYMOUS_CODING VWA5A MODERATE|MISSENSE|Gag/Aag|E205K|415|VWA5A|protein_coding|CODING|ENST00000361352|exon_11_123989240_123989415 0/1:99:255,0,255 . . . 11 123989383 rs35215239 G A NON_SYNONYMOUS_CODING VWA5A MODERATE|MISSENSE|Gag/Aag|E205K|415|VWA5A|protein_coding|CODING|ENST00000449321|exon_11_123989240_123989415 0/1:99:255,0,255 . . . 11 123989383 rs35215239 G A NON_SYNONYMOUS_CODING VWA5A MODERATE|MISSENSE|Gag/Aag|E205K|426|VWA5A|protein_coding|CODING|ENST00000360334|exon_11_123989240_123989415 0/1:99:255,0,255 . . . 11 123989383 rs35215239 G A NON_SYNONYMOUS_CODING VWA5A MODERATE|MISSENSE|Gag/Aag|E205K|786|VWA5A|protein_coding|CODING|ENST00000392748|exon_11_123989240_123989415 0/1:99:255,0,255 . . . 11 123989383 rs35215239 G A NON_SYNONYMOUS_CODING VWA5A MODERATE|MISSENSE|Gag/Aag|E205K|786|VWA5A|protein_coding|CODING|ENST00000456829|exon_11_123989240_123989415 0/1:99:255,0,255 . . . 11 123989383 rs35215239 G A NON_SYNONYMOUS_CODING VWA5A MODERATE|MISSENSE|Gag/Aag|E221K|431|VWA5A|protein_coding|CODING|ENST00000392744|exon_11_123989240_123989415 0/1:99:255,0,255 . . . 11 124006972 rs2276054 G T NON_SYNONYMOUS_CODING VWA5A MODERATE|MISSENSE|aGc/aTc|S499I|786|VWA5A|protein_coding|CODING|ENST00000392748|exon_11_124006836_124007000 . 0/1:99:255,0,249 . 0/1:99:245,0,215 11 124006972 rs2276054 G T NON_SYNONYMOUS_CODING VWA5A MODERATE|MISSENSE|aGc/aTc|S499I|786|VWA5A|protein_coding|CODING|ENST00000456829|exon_11_124006836_124007000 . 0/1:99:255,0,249 . 0/1:99:245,0,215 11 124006993 rs2276053 G A NON_SYNONYMOUS_CODING VWA5A MODERATE|MISSENSE|aGg/aAg|R506K|786|VWA5A|protein_coding|CODING|ENST00000392748|exon_11_124006836_124007000 . 0/1:99:255,0,244 . 0/1:99:255,0,255 11 124006993 rs2276053 G A NON_SYNONYMOUS_CODING VWA5A MODERATE|MISSENSE|aGg/aAg|R506K|786|VWA5A|protein_coding|CODING|ENST00000456829|exon_11_124006836_124007000 . 0/1:99:255,0,244 . 0/1:99:255,0,255 11 124007930 rs73607036 A G NON_SYNONYMOUS_CODING VWA5A MODERATE|MISSENSE|Att/Gtt|I612V|786|VWA5A|protein_coding|CODING|ENST00000392748|exon_11_124007722_124007975 0/1:99:255,0,198 . . . 11 124007930 rs73607036 A G NON_SYNONYMOUS_CODING VWA5A MODERATE|MISSENSE|Att/Gtt|I612V|786|VWA5A|protein_coding|CODING|ENST00000456829|exon_11_124007722_124007975 0/1:99:255,0,198 . . . 11 124056581 rs2466584 A G NON_SYNONYMOUS_CODING OR10D3 MODERATE|MISSENSE|aAc/aGc|N202S|312|OR10D3|protein_coding|CODING|ENST00000318666|exon_11_124055923_124056952 . 0/1:99:255,0,255 0/1:99:255,0,169 0/1:99:233,0,243 11 124180359 rs2510433 A C NON_SYNONYMOUS_CODING OR8D1 MODERATE|MISSENSE|Ttt/Gtt|F102V|308|OR8D1|protein_coding|CODING|ENST00000357821|exon_11_124179708_124180733 . 0/1:99:255,0,221 . . 11 124189306 rs2466620 G A NON_SYNONYMOUS_CODING OR8D2 MODERATE|MISSENSE|cCt/cTt|P263L|311|OR8D2|protein_coding|CODING|ENST00000357438|exon_11_124189134_124190184 0/1:99:255,0,255 0/1:99:255,0,220 0/1:99:224,0,255 0/1:99:255,0,173 11 124189729 rs2512219 C T NON_SYNONYMOUS_CODING OR8D2 MODERATE|MISSENSE|cGt/cAt|R122H|311|OR8D2|protein_coding|CODING|ENST00000357438|exon_11_124189134_124190184 0/1:99:216,0,255 0/1:99:255,0,255 0/1:99:255,0,255 0/1:99:255,0,255 11 124253100 rs71491826 G A NON_SYNONYMOUS_CODING OR8B2 MODERATE|MISSENSE|aCt/aTt|T47I|313|OR8B2|protein_coding|CODING|ENST00000375013|exon_11_124252291_124253258 0/1:67:64,0,255 . . . 11 124267148 rs77374761 C T NON_SYNONYMOUS_CODING OR8B3 MODERATE|MISSENSE|Gtc/Atc|V34I|313|OR8B3|protein_coding|CODING|ENST00000354597|exon_11_124266278_124267264 0/1:53:50,0,228 0/1:62:59,0,185 . . 11 124412838 rs61747005 C T NON_SYNONYMOUS_CODING OR8B12 MODERATE|MISSENSE|aGt/aAt|S238N|310|OR8B12|protein_coding|CODING|ENST00000306842|exon_11_124412578_124413575 . . 0/1:99:255,0,255 . 11 124440048 . G T NON_SYNONYMOUS_CODING OR8A1 MODERATE|MISSENSE|gaG/gaT|E28D|326|OR8A1|protein_coding|CODING|ENST00000284287|exon_11_124439893_124441037 0/1:99:255,0,218 . . . 11 124624150 rs12792040 G A NON_SYNONYMOUS_CODING ESAM MODERATE|MISSENSE|Cgc/Tgc|R146C|147|ESAM|protein_coding|CODING|ENST00000435477|exon_11_124624141_124624236 . . 0/1:99:174,0,232 0/1:99:194,0,168 11 124624150 rs12792040 G A NON_SYNONYMOUS_CODING ESAM MODERATE|MISSENSE|Cgc/Tgc|R273C|390|ESAM|protein_coding|CODING|ENST00000278927|exon_11_124624110_124624236 . . 0/1:99:174,0,232 0/1:99:194,0,168 11 124624150 rs12792040 G A NON_SYNONYMOUS_CODING ESAM MODERATE|MISSENSE|Cgc/Tgc|R94C|140|ESAM|protein_coding|CODING|ENST00000444566|exon_11_124624110_124624236 . . 0/1:99:174,0,232 0/1:99:194,0,168 11 124624150 rs12792040 G A NON_SYNONYMOUS_CODING ESAM MODERATE|MISSENSE|Cgc/Tgc|R94C|141|ESAM|protein_coding|CODING|ENST00000442070|exon_11_124624110_124624236 . . 0/1:99:174,0,232 0/1:99:194,0,168 11 124742385 rs4935898 G A NON_SYNONYMOUS_CODING ROBO3 MODERATE|MISSENSE|Gtg/Atg|V401M|1364|ROBO3|protein_coding|CODING|ENST00000538940|exon_11_124742277_124742448 . . 0/1:99:255,0,137 . 11 124742385 rs4935898 G A NON_SYNONYMOUS_CODING ROBO3 MODERATE|MISSENSE|Gtg/Atg|V423M|1386|ROBO3|protein_coding|CODING|ENST00000397801|exon_11_124742277_124742448 . . 0/1:99:255,0,137 . 11 124744033 rs74787566 G A NON_SYNONYMOUS_CODING ROBO3 MODERATE|MISSENSE|Ggt/Agt|G596S|1364|ROBO3|protein_coding|CODING|ENST00000538940|exon_11_124743966_124744132 0/1:99:255,0,212 . . . 11 124744033 rs74787566 G A NON_SYNONYMOUS_CODING ROBO3 MODERATE|MISSENSE|Ggt/Agt|G618S|1386|ROBO3|protein_coding|CODING|ENST00000397801|exon_11_124743966_124744132 0/1:99:255,0,212 . . . 11 124746180 rs55706177 C T NON_SYNONYMOUS_CODING ROBO3 MODERATE|MISSENSE|cCg/cTg|P846L|1364|ROBO3|protein_coding|CODING|ENST00000538940|exon_11_124746171_124746356 . . 0/1:99:206,0,196 . 11 124746180 rs55706177 C T NON_SYNONYMOUS_CODING ROBO3 MODERATE|MISSENSE|cCg/cTg|P868L|1386|ROBO3|protein_coding|CODING|ENST00000397801|exon_11_124746171_124746356 . . 0/1:99:206,0,196 . 11 124857708 rs4936966 G A NON_SYNONYMOUS_CODING CCDC15 MODERATE|MISSENSE|gGc/gAc|G529D|951|CCDC15|protein_coding|CODING|ENST00000344762|exon_11_124857023_124858030 0/1:99:249,0,255 0/1:99:255,0,233 0/1:99:255,0,255 0/1:99:255,0,245 11 124857708 rs4936966 G A NON_SYNONYMOUS_CODING CCDC15 MODERATE|MISSENSE|gGc/gAc|G529D|962|CCDC15|protein_coding|CODING|ENST00000529051|exon_11_124857023_124858030 0/1:99:249,0,255 0/1:99:255,0,233 0/1:99:255,0,255 0/1:99:255,0,245 11 124908352 rs7107487 T C NON_SYNONYMOUS_CODING CCDC15 MODERATE|MISSENSE|Tgt/Cgt|C813R|951|CCDC15|protein_coding|CODING|ENST00000344762|exon_11_124908327_124908500 0/1:99:255,0,253 0/1:99:255,0,255 0/1:99:255,0,255 0/1:99:246,0,238 11 124908352 rs7107487 T C NON_SYNONYMOUS_CODING CCDC15 MODERATE|MISSENSE|Tgt/Cgt|C813R|962|CCDC15|protein_coding|CODING|ENST00000529051|exon_11_124908327_124908500 0/1:99:255,0,253 0/1:99:255,0,255 0/1:99:255,0,255 0/1:99:246,0,238 11 125002920 rs77411432 G A NON_SYNONYMOUS_CODING RP11-687M24.4.1 MODERATE|MISSENSE|gCg/gTg|A129V|158|RP11-687M24.4.1|protein_coding|CODING|ENST00000525429|exon_11_125002743_125003094 . . 0/1:99:119,0,255 . 11 125003004 rs653552 A G NON_SYNONYMOUS_CODING RP11-687M24.4.1 MODERATE|MISSENSE|cTa/cCa|L101P|158|RP11-687M24.4.1|protein_coding|CODING|ENST00000525429|exon_11_125002743_125003094 . . 0/1:99:182,0,255 . 11 125708293 rs12224646 T G NON_SYNONYMOUS_CODING PATE4 MODERATE|MISSENSE|Tgt/Ggt|C51G|59|PATE4|protein_coding|CODING|ENST00000534411|exon_11_125708201_125708995 . 0/1:99:255,0,236 . 0/1:99:235,0,255 11 125708293 rs12224646 T G NON_SYNONYMOUS_CODING PATE4 MODERATE|MISSENSE|Tgt/Ggt|C90G|98|PATE4|protein_coding|CODING|ENST00000457514|exon_11_125708201_125709964 . 0/1:99:255,0,236 . 0/1:99:235,0,255 11 125765528 rs35681508 G A NON_SYNONYMOUS_CODING PUS3 MODERATE|MISSENSE|Cct/Tct|P179S|481|PUS3|protein_coding|CODING|ENST00000227474|exon_11_125765119_125765684 . 0/1:99:255,0,255 . 0/1:99:247,0,255 11 125765528 rs35681508 G A NON_SYNONYMOUS_CODING PUS3 MODERATE|MISSENSE|Cct/Tct|P179S|481|PUS3|protein_coding|CODING|ENST00000530811|exon_11_125765119_125765684 . 0/1:99:255,0,255 . 0/1:99:247,0,255 11 126162468 rs3802813 G A NON_SYNONYMOUS_CODING TIRAP MODERATE|MISSENSE|aGc/aAc|S55N|221|TIRAP|protein_coding|CODING|ENST00000392679|exon_11_126162372_126162950 0/1:99:191,0,183 . . . 11 126162468 rs3802813 G A NON_SYNONYMOUS_CODING TIRAP MODERATE|MISSENSE|aGc/aAc|S55N|221|TIRAP|protein_coding|CODING|ENST00000392680|exon_11_126162372_126162950 0/1:99:191,0,183 . . . 11 126162468 rs3802813 G A NON_SYNONYMOUS_CODING TIRAP MODERATE|MISSENSE|aGc/aAc|S55N|235|TIRAP|protein_coding|CODING|ENST00000392678|exon_11_126162372_126163139 0/1:99:191,0,183 . . . 11 126162468 rs3802813 G A NON_SYNONYMOUS_CODING TIRAP MODERATE|MISSENSE|aGc/aAc|S55N|255|TIRAP|protein_coding|CODING|ENST00000279992|exon_11_126162372_126162950 0/1:99:191,0,183 . . . 11 126163629 rs199998834 C T NON_SYNONYMOUS_CODING TIRAP MODERATE|MISSENSE|aCa/aTa|T237I|255|TIRAP|protein_coding|CODING|ENST00000279992|exon_11_126163582_126163687 0/1:99:255,0,255 . . . 11 126343227 rs111418068 T C NON_SYNONYMOUS_CODING KIRREL3 MODERATE|MISSENSE|Atc/Gtc|I190V|600|KIRREL3|protein_coding|CODING|ENST00000525704|exon_11_126343204_126343361 . 0/1:93:94,0,92 . . 11 126343227 rs111418068 T C NON_SYNONYMOUS_CODING KIRREL3 MODERATE|MISSENSE|Atc/Gtc|I190V|766|KIRREL3|protein_coding|CODING|ENST00000529097|exon_11_126343204_126343361 . 0/1:93:94,0,92 . . 11 126343227 rs111418068 T C NON_SYNONYMOUS_CODING KIRREL3 MODERATE|MISSENSE|Atc/Gtc|I190V|778|KIRREL3|protein_coding|CODING|ENST00000525144|exon_11_126343204_126343361 . 0/1:93:94,0,92 . . 11 128805548 rs11601431 G A NON_SYNONYMOUS_CODING TP53AIP1 MODERATE|MISSENSE|Cca/Tca|P101S|120|TP53AIP1|protein_coding|CODING|ENST00000530777|exon_11_128805486_128805595 . 0/1:99:155,0,227 . . 11 128805548 rs11601431 G A NON_SYNONYMOUS_CODING TP53AIP1 MODERATE|MISSENSE|Cca/Tca|P105S|124|TP53AIP1|protein_coding|CODING|ENST00000531399|exon_11_128805265_128805607 . 0/1:99:155,0,227 . . 11 128805557 rs56235610 T C NON_SYNONYMOUS_CODING TP53AIP1 MODERATE|MISSENSE|Aga/Gga|R102G|124|TP53AIP1|protein_coding|CODING|ENST00000531399|exon_11_128805265_128805607 . 0/1:99:219,0,242 . . 11 128805557 rs56235610 T C NON_SYNONYMOUS_CODING TP53AIP1 MODERATE|MISSENSE|Aga/Gga|R98G|120|TP53AIP1|protein_coding|CODING|ENST00000530777|exon_11_128805486_128805595 . 0/1:99:219,0,242 . . 11 129991652 . TGAAGAGGAAGAGGAAGAGGAAGATGAAGAGGAAGA TGAAGAGGAAGAGGAAGATGAAGAGGAAGA CODON_CHANGE_PLUS_CODON_DELETION APLP2 MODERATE||gaggaagat/gat|EED133D|658|APLP2|protein_coding|CODING|ENST00000543137|exon_11_129991509_129991705 . 0/1:99:176,0,255 . . 11 129991652 . TGAAGAGGAAGAGGAAGAGGAAGATGAAGAGGAAGA TGAAGAGGAAGAGGAAGATGAAGAGGAAGA CODON_CHANGE_PLUS_CODON_DELETION APLP2 MODERATE||gaggaagat/gat|EED226D|695|APLP2|protein_coding|CODING|ENST00000528499|exon_11_129991509_129991705 . 0/1:99:176,0,255 . . 11 129991652 . TGAAGAGGAAGAGGAAGAGGAAGATGAAGAGGAAGA TGAAGAGGAAGAGGAAGATGAAGAGGAAGA CODON_CHANGE_PLUS_CODON_DELETION APLP2 MODERATE||gaggaagat/gat|EED226D|751|APLP2|protein_coding|CODING|ENST00000338167|exon_11_129991509_129991705 . 0/1:99:176,0,255 . . 11 129991652 . TGAAGAGGAAGAGGAAGAGGAAGATGAAGAGGAAGA TGAAGAGGAAGAGGAAGATGAAGAGGAAGA CODON_CHANGE_PLUS_CODON_DELETION APLP2 MODERATE||gaggaagat/gat|EED226D|763|APLP2|protein_coding|CODING|ENST00000263574|exon_11_129991509_129991705 . 0/1:99:176,0,255 . . 11 129991652 . TGAAGAGGAAGAGGAAGAGGAAGATGAAGAGGAAGA TGAAGAGGAAGAGGAAGATGAAGAGGAAGA CODON_CHANGE_PLUS_CODON_DELETION APLP2 MODERATE||gaggaagat/gat|EED236D|761|APLP2|protein_coding|CODING|ENST00000278756|exon_11_129991509_129991705 . 0/1:99:176,0,255 . . 11 129991652 . TGAAGAGGAAGAGGAAGAGGAAGATGAAGAGGAAGA TGAAGAGGAAGAGGAAGATGAAGAGGAAGA CODON_CHANGE_PLUS_CODON_DELETION APLP2 MODERATE||gaggaagat/gat|EED70D|551|APLP2|protein_coding|CODING|ENST00000539648|exon_11_129991509_129991705 . 0/1:99:176,0,255 . . 11 130059528 rs111747217 A G NON_SYNONYMOUS_CODING ST14 MODERATE|MISSENSE|cAg/cGg|Q14R|757|ST14|protein_coding|CODING|ENST00000525779|exon_11_130059411_130059791 . . 0/1:99:178,0,250 . 11 132200049 rs201653643 G A NON_SYNONYMOUS_CODING NTM MODERATE|MISSENSE|Gtg/Atg|V304M|346|NTM|protein_coding|CODING|ENST00000427481|exon_11_132200047_132200079 . 0/1:99:250,0,255 . . 11 132200049 rs201653643 G A NON_SYNONYMOUS_CODING NTM MODERATE|MISSENSE|Gtg/Atg|V313M|355|NTM|protein_coding|CODING|ENST00000425719|exon_11_132200047_132200079 . 0/1:99:250,0,255 . . 11 132200049 rs201653643 G A NON_SYNONYMOUS_CODING NTM MODERATE|MISSENSE|Gtg/Atg|V313M|355|NTM|protein_coding|CODING|ENST00000539799|exon_11_132200047_132200079 . 0/1:99:250,0,255 . . 11 132204951 rs61746413 G A NON_SYNONYMOUS_CODING NTM MODERATE|MISSENSE|Gtc/Atc|V316I|344|NTM|protein_coding|CODING|ENST00000374786|exon_11_132204940_132206716 . . . 0/1:99:198,0,224 11 132204951 rs61746413 G A NON_SYNONYMOUS_CODING NTM MODERATE|MISSENSE|Gtc/Atc|V316I|344|NTM|protein_coding|CODING|ENST00000374791|exon_11_132204940_132206716 . . . 0/1:99:198,0,224 11 132204951 rs61746413 G A NON_SYNONYMOUS_CODING NTM MODERATE|MISSENSE|Gtc/Atc|V318I|346|NTM|protein_coding|CODING|ENST00000427481|exon_11_132204940_132205040 . . . 0/1:99:198,0,224 11 132204951 rs61746413 G A NON_SYNONYMOUS_CODING NTM MODERATE|MISSENSE|Gtc/Atc|V327I|355|NTM|protein_coding|CODING|ENST00000425719|exon_11_132204940_132205559 . . . 0/1:99:198,0,224 11 132204951 rs61746413 G A NON_SYNONYMOUS_CODING NTM MODERATE|MISSENSE|Gtc/Atc|V327I|355|NTM|protein_coding|CODING|ENST00000539799|exon_11_132204940_132205040 . . . 0/1:99:198,0,224 11 133789859 . G A NON_SYNONYMOUS_CODING IGSF9B MODERATE|MISSENSE|tCc/tTc|S1096F|1191|IGSF9B|protein_coding|CODING|ENST00000533871|exon_11_133789637_133791292 . . . 0/1:99:188,0,128 11 133789859 . G A NON_SYNONYMOUS_CODING IGSF9B MODERATE|MISSENSE|tCc/tTc|S1254F|1349|IGSF9B|protein_coding|CODING|ENST00000321016|exon_11_133789637_133791292 . . . 0/1:99:188,0,128 11 134131692 . C T NON_SYNONYMOUS_CODING ACAD8 MODERATE|MISSENSE|Cgc/Tgc|R207C|288|ACAD8|protein_coding|CODING|ENST00000374752|exon_11_134131632_134131784 0/1:99:204,0,235 . . . 11 134131692 . C T NON_SYNONYMOUS_CODING ACAD8 MODERATE|MISSENSE|Cgc/Tgc|R257C|357|ACAD8|protein_coding|CODING|ENST00000537423|exon_11_134131632_134131784 0/1:99:204,0,235 . . . 11 134131692 . C T NON_SYNONYMOUS_CODING ACAD8 MODERATE|MISSENSE|Cgc/Tgc|R334C|415|ACAD8|protein_coding|CODING|ENST00000281182|exon_11_134131632_134131784 0/1:99:204,0,235 . . . 11 134132714 rs149141770 G A NON_SYNONYMOUS_CODING ACAD8 MODERATE|MISSENSE|Ggg/Agg|G339R|357|ACAD8|protein_coding|CODING|ENST00000537423|exon_11_134132664_134132852 . . 0/1:99:174,0,181 . 12 247923 rs75677829 A G NON_SYNONYMOUS_CODING IQSEC3 MODERATE|MISSENSE|gAt/gGt|D162G|759|IQSEC3|protein_coding|CODING|ENST00000382841|exon_12_247433_248520 . . 0/1:81:78,0,172 . 12 247923 rs75677829 A G NON_SYNONYMOUS_CODING IQSEC3 MODERATE|MISSENSE|gAt/gGt|D465G|1182|IQSEC3|protein_coding|CODING|ENST00000326261|exon_12_247433_248520 . . 0/1:81:78,0,172 . 12 247923 rs75677829 A G NON_SYNONYMOUS_CODING IQSEC3 MODERATE|MISSENSE|gAt/gGt|D465G|1182|IQSEC3|protein_coding|CODING|ENST00000538872|exon_12_247433_248520 . . 0/1:81:78,0,172 . 12 248353 . G C NON_SYNONYMOUS_CODING IQSEC3 MODERATE|MISSENSE|aaG/aaC|K305N|759|IQSEC3|protein_coding|CODING|ENST00000382841|exon_12_247433_248520 0/1:99:234,0,217 . . . 12 248353 . G C NON_SYNONYMOUS_CODING IQSEC3 MODERATE|MISSENSE|aaG/aaC|K608N|1182|IQSEC3|protein_coding|CODING|ENST00000326261|exon_12_247433_248520 0/1:99:234,0,217 . . . 12 248353 . G C NON_SYNONYMOUS_CODING IQSEC3 MODERATE|MISSENSE|aaG/aaC|K608N|1182|IQSEC3|protein_coding|CODING|ENST00000538872|exon_12_247433_248520 0/1:99:234,0,217 . . . 12 431586 rs74894801 T A NON_SYNONYMOUS_CODING KDM5A MODERATE|MISSENSE|cAc/cTc|H427L|714|KDM5A|protein_coding|CODING|ENST00000261253|exon_12_431583_431733 . . . 0/1:99:255,0,255 12 431586 rs74894801 T A NON_SYNONYMOUS_CODING KDM5A MODERATE|MISSENSE|cAc/cTc|H427L|714|KDM5A|protein_coding|CODING|ENST00000544760|exon_12_431583_431733 . . . 0/1:99:255,0,255 12 431586 rs74894801 T A NON_SYNONYMOUS_CODING KDM5A MODERATE|MISSENSE|cAc/cTc|H767L|1048|KDM5A|protein_coding|CODING|ENST00000399787|exon_12_431583_431733 . . . 0/1:99:255,0,255 12 431586 rs74894801 T A NON_SYNONYMOUS_CODING KDM5A MODERATE|MISSENSE|cAc/cTc|H808L|1636|KDM5A|protein_coding|CODING|ENST00000382815|exon_12_431583_431733 . . . 0/1:99:255,0,255 12 431586 rs74894801 T A NON_SYNONYMOUS_CODING KDM5A MODERATE|MISSENSE|cAc/cTc|H808L|1690|KDM5A|protein_coding|CODING|ENST00000399788|exon_12_431583_431733 . . . 0/1:99:255,0,255 12 657404 rs11063529 G A NON_SYNONYMOUS_CODING B4GALNT3 MODERATE|MISSENSE|cGg/cAg|R167Q|635|B4GALNT3|protein_coding|CODING|ENST00000322843|exon_12_657397_657463 . 0/1:99:246,0,203 0/1:99:159,0,255 0/1:99:255,0,226 12 657404 rs11063529 G A NON_SYNONYMOUS_CODING B4GALNT3 MODERATE|MISSENSE|cGg/cAg|R265Q|998|B4GALNT3|protein_coding|CODING|ENST00000266383|exon_12_657397_657463 . 0/1:99:246,0,203 0/1:99:159,0,255 0/1:99:255,0,226 12 661656 rs7298766 A G NON_SYNONYMOUS_CODING B4GALNT3 MODERATE|MISSENSE|aAg/aGg|K313R|635|B4GALNT3|protein_coding|CODING|ENST00000322843|exon_12_661633_661694 . 0/1:99:174,0,255 1/1:99:255,60,0 0/1:99:181,0,235 12 661656 rs7298766 A G NON_SYNONYMOUS_CODING B4GALNT3 MODERATE|MISSENSE|aAg/aGg|K411R|998|B4GALNT3|protein_coding|CODING|ENST00000266383|exon_12_661633_661694 . 0/1:99:174,0,255 1/1:99:255,60,0 0/1:99:181,0,235 12 863152 rs11554421 G A NON_SYNONYMOUS_CODING WNK1 MODERATE|MISSENSE|Gcc/Acc|A141T|2134|WNK1|protein_coding|CODING|ENST00000535572|exon_12_861759_863490 . . 0/1:99:203,0,196 . 12 863152 rs11554421 G A NON_SYNONYMOUS_CODING WNK1 MODERATE|MISSENSE|Gcc/Acc|A141T|2382|WNK1|protein_coding|CODING|ENST00000315939|exon_12_862089_863490 . . 0/1:99:203,0,196 . 12 863152 rs11554421 G A NON_SYNONYMOUS_CODING WNK1 MODERATE|MISSENSE|Gcc/Acc|A141T|2642|WNK1|protein_coding|CODING|ENST00000537687|exon_12_862089_863490 . . 0/1:99:203,0,196 . 12 863152 rs11554421 G A NON_SYNONYMOUS_CODING WNK1 MODERATE|MISSENSE|Gcc/Acc|A141T|2880|WNK1|protein_coding|CODING|ENST00000530271|exon_12_862732_863490 . . 0/1:99:203,0,196 . 12 863152 rs11554421 G A NON_SYNONYMOUS_CODING WNK1 MODERATE|MISSENSE|Gcc/Acc|A141T|393|WNK1|protein_coding|CODING|ENST00000447667|exon_12_862222_863490 . . 0/1:99:203,0,196 . 12 1940514 rs41276696 G A NON_SYNONYMOUS_CODING LRTM2 MODERATE|MISSENSE|Gac/Aac|D161N|370|LRTM2|protein_coding|CODING|ENST00000299194|exon_12_1940101_1940691 . . 0/1:99:156,0,255 . 12 1940514 rs41276696 G A NON_SYNONYMOUS_CODING LRTM2 MODERATE|MISSENSE|Gac/Aac|D161N|370|LRTM2|protein_coding|CODING|ENST00000535041|exon_12_1940101_1940691 . . 0/1:99:156,0,255 . 12 1940514 rs41276696 G A NON_SYNONYMOUS_CODING LRTM2 MODERATE|MISSENSE|Gac/Aac|D161N|370|LRTM2|protein_coding|CODING|ENST00000543818|exon_12_1940101_1940691 . . 0/1:99:156,0,255 . 12 2908330 rs56196860 C A NON_SYNONYMOUS_CODING FKBP4 MODERATE|MISSENSE|aaC/aaA|N197K|459|FKBP4|protein_coding|CODING|ENST00000001008|exon_12_2908254_2908410 . . . 0/1:99:214,0,191 12 3049698 rs998814 T C NON_SYNONYMOUS_CODING TULP3 MODERATE|MISSENSE|Tgt/Cgt|C438R|501|TULP3|protein_coding|CODING|ENST00000397132|exon_12_3049696_3050296 . . . 0/1:99:241,0,255 12 3147203 rs11550887 C T NON_SYNONYMOUS_CODING TEAD4 MODERATE|MISSENSE|Ccc/Tcc|P194S|305|TEAD4|protein_coding|CODING|ENST00000397122|exon_12_3147134_3147274 . . . 0/1:99:226,0,255 12 3147203 rs11550887 C T NON_SYNONYMOUS_CODING TEAD4 MODERATE|MISSENSE|Ccc/Tcc|P280S|391|TEAD4|protein_coding|CODING|ENST00000358409|exon_12_3147134_3147274 . . . 0/1:99:226,0,255 12 3147203 rs11550887 C T NON_SYNONYMOUS_CODING TEAD4 MODERATE|MISSENSE|Ccc/Tcc|P323S|434|TEAD4|protein_coding|CODING|ENST00000359864|exon_12_3147134_3147274 . . . 0/1:99:226,0,255 12 3724583 rs11062745 T C NON_SYNONYMOUS_CODING EFCAB4B MODERATE|MISSENSE|Aca/Gca|T712A|731|EFCAB4B|protein_coding|CODING|ENST00000440314|exon_12_3724494_3724605 . . . 0/1:99:255,0,252 12 3749874 rs7138453 T C NON_SYNONYMOUS_CODING EFCAB4B MODERATE|MISSENSE|cAt/cGt|H448R|462|EFCAB4B|protein_coding|CODING|ENST00000444507|exon_12_3749561_3749945 0/1:99:255,0,251 1/1:99:255,81,0 0/1:99:250,0,255 1/1:99:255,99,0 12 3782647 rs36030417 A T NON_SYNONYMOUS_CODING EFCAB4B MODERATE|MISSENSE|caT/caA|H212Q|395|EFCAB4B|protein_coding|CODING|ENST00000252322|exon_12_3782612_3782758 0/1:99:255,0,255 0/1:99:255,0,255 . 0/1:99:224,0,255 12 3782647 rs36030417 A T NON_SYNONYMOUS_CODING EFCAB4B MODERATE|MISSENSE|caT/caA|H212Q|462|EFCAB4B|protein_coding|CODING|ENST00000444507|exon_12_3782612_3782758 0/1:99:255,0,255 0/1:99:255,0,255 . 0/1:99:224,0,255 12 3782647 rs36030417 A T NON_SYNONYMOUS_CODING EFCAB4B MODERATE|MISSENSE|caT/caA|H212Q|731|EFCAB4B|protein_coding|CODING|ENST00000440314|exon_12_3782612_3782758 0/1:99:255,0,255 0/1:99:255,0,255 . 0/1:99:224,0,255 12 3789452 rs17836273 C T NON_SYNONYMOUS_CODING EFCAB4B MODERATE|MISSENSE|Gct/Act|A98T|395|EFCAB4B|protein_coding|CODING|ENST00000252322|exon_12_3789404_3789515 0/1:99:255,0,213 . . 0/1:99:255,0,203 12 3789452 rs17836273 C T NON_SYNONYMOUS_CODING EFCAB4B MODERATE|MISSENSE|Gct/Act|A98T|462|EFCAB4B|protein_coding|CODING|ENST00000444507|exon_12_3789404_3789515 0/1:99:255,0,213 . . 0/1:99:255,0,203 12 3789452 rs17836273 C T NON_SYNONYMOUS_CODING EFCAB4B MODERATE|MISSENSE|Gct/Act|A98T|731|EFCAB4B|protein_coding|CODING|ENST00000440314|exon_12_3789404_3789515 0/1:99:255,0,213 . . 0/1:99:255,0,203 12 5841733 rs1860961 A C NON_SYNONYMOUS_CODING ANO2 MODERATE|MISSENSE|Tct/Gct|S500A|998|ANO2|protein_coding|CODING|ENST00000327087|exon_12_5841686_5841796 . . 0/1:99:255,0,147 . 12 5841733 rs1860961 A C NON_SYNONYMOUS_CODING ANO2 MODERATE|MISSENSE|Tct/Gct|S501A|999|ANO2|protein_coding|CODING|ENST00000356134|exon_12_5841686_5841796 . . 0/1:99:255,0,147 . 12 5841733 rs1860961 A C NON_SYNONYMOUS_CODING ANO2 MODERATE|MISSENSE|Tct/Gct|S501A|999|ANO2|protein_coding|CODING|ENST00000546188|exon_12_5841686_5841796 . . 0/1:99:255,0,147 . 12 5841733 rs1860961 A C NON_SYNONYMOUS_CODING ANO2 MODERATE|MISSENSE|Tct/Gct|S505A|1003|ANO2|protein_coding|CODING|ENST00000541277|exon_12_5841686_5841796 . . 0/1:99:255,0,147 . 12 5841733 rs1860961 A C NON_SYNONYMOUS_CODING ANO2 MODERATE|MISSENSE|Tct/Gct|S60A|202|ANO2|protein_coding|CODING|ENST00000545860|exon_12_5841686_5841796 . . 0/1:99:255,0,147 . 12 6103094 rs34230288 C A NON_SYNONYMOUS_CODING VWF MODERATE|MISSENSE|Gcc/Tcc|A2178S|2813|VWF|protein_coding|CODING|ENST00000261405|exon_12_6103028_6103369 . . 0/1:99:241,0,229 . 12 6140659 rs33978901 C T NON_SYNONYMOUS_CODING VWF MODERATE|MISSENSE|cGg/cAg|R924Q|2813|VWF|protein_coding|CODING|ENST00000261405|exon_12_6140610_6140744 . . 0/1:99:255,0,243 . 12 6458350 rs5742912 A G NON_SYNONYMOUS_CODING SCNN1A MODERATE|MISSENSE|Tgg/Cgg|W193R|369|SCNN1A|protein_coding|CODING|ENST00000540037|exon_12_6458330_6458387 . 0/1:99:252,0,184 . . 12 6458350 rs5742912 A G NON_SYNONYMOUS_CODING SCNN1A MODERATE|MISSENSE|Tgg/Cgg|W493R|669|SCNN1A|protein_coding|CODING|ENST00000228916|exon_12_6458330_6458387 . 0/1:99:252,0,184 . . 12 6458350 rs5742912 A G NON_SYNONYMOUS_CODING SCNN1A MODERATE|MISSENSE|Tgg/Cgg|W515R|691|SCNN1A|protein_coding|CODING|ENST00000358945|exon_12_6458330_6458387 . 0/1:99:252,0,184 . . 12 6458350 rs5742912 A G NON_SYNONYMOUS_CODING SCNN1A MODERATE|MISSENSE|Tgg/Cgg|W516R|692|SCNN1A|protein_coding|CODING|ENST00000543768|exon_12_6458330_6458387 . 0/1:99:252,0,184 . . 12 6458350 rs5742912 A G NON_SYNONYMOUS_CODING SCNN1A MODERATE|MISSENSE|Tgg/Cgg|W552R|728|SCNN1A|protein_coding|CODING|ENST00000360168|exon_12_6458330_6458387 . 0/1:99:252,0,184 . . 12 6472752 rs55797039 G A NON_SYNONYMOUS_CODING SCNN1A MODERATE|MISSENSE|Cgg/Tgg|R181W|511|SCNN1A|protein_coding|CODING|ENST00000396966|exon_12_6472609_6472876 . . 0/1:99:197,0,168 . 12 6472752 rs55797039 G A NON_SYNONYMOUS_CODING SCNN1A MODERATE|MISSENSE|Cgg/Tgg|R181W|669|SCNN1A|protein_coding|CODING|ENST00000228916|exon_12_6472609_6472876 . . 0/1:99:197,0,168 . 12 6472752 rs55797039 G A NON_SYNONYMOUS_CODING SCNN1A MODERATE|MISSENSE|Cgg/Tgg|R181W|691|SCNN1A|protein_coding|CODING|ENST00000358945|exon_12_6472609_6472876 . . 0/1:99:197,0,168 . 12 6472752 rs55797039 G A NON_SYNONYMOUS_CODING SCNN1A MODERATE|MISSENSE|Cgg/Tgg|R204W|692|SCNN1A|protein_coding|CODING|ENST00000543768|exon_12_6472609_6472876 . . 0/1:99:197,0,168 . 12 6472752 rs55797039 G A NON_SYNONYMOUS_CODING SCNN1A MODERATE|MISSENSE|Cgg/Tgg|R240W|728|SCNN1A|protein_coding|CODING|ENST00000360168|exon_12_6472609_6472876 . . 0/1:99:197,0,168 . 12 6858126 rs2302371 G A NON_SYNONYMOUS_CODING MLF2 MODERATE|MISSENSE|aCg/aTg|T205M|229|MLF2|protein_coding|CODING|ENST00000537126|exon_12_6858048_6858148 . . 0/1:99:212,0,208 . 12 6928020 rs138218083 C T NON_SYNONYMOUS_CODING CD4 MODERATE|MISSENSE|gCa/gTa|A429V|458|CD4|protein_coding|CODING|ENST00000011653|exon_12_6928013_6928080 . . . 0/1:99:124,0,98 12 6954864 rs5442 G A NON_SYNONYMOUS_CODING GNB3 MODERATE|MISSENSE|Ggc/Agc|G231S|263|GNB3|protein_coding|CODING|ENST00000537035|exon_12_6954750_6954967 . . . 0/1:99:151,0,248 12 6954864 rs5442 G A NON_SYNONYMOUS_CODING GNB3 MODERATE|MISSENSE|Ggc/Agc|G271S|339|GNB3|protein_coding|CODING|ENST00000435982|exon_12_6954750_6954966 . . . 0/1:99:151,0,248 12 6954864 rs5442 G A NON_SYNONYMOUS_CODING GNB3 MODERATE|MISSENSE|Ggc/Agc|G272S|340|GNB3|protein_coding|CODING|ENST00000229264|exon_12_6954750_6954966 . . . 0/1:99:151,0,248 12 7015031 rs191155150 A T NON_SYNONYMOUS_CODING LRRC23 MODERATE|MISSENSE|gAg/gTg|E50V|202|LRRC23|protein_coding|CODING|ENST00000429740|exon_12_7015009_7015118 0/1:99:209,0,238 . . . 12 7015031 rs191155150 A T NON_SYNONYMOUS_CODING LRRC23 MODERATE|MISSENSE|gAg/gTg|E50V|216|LRRC23|protein_coding|CODING|ENST00000436789|exon_12_7015009_7015118 0/1:99:209,0,238 . . . 12 7015031 rs191155150 A T NON_SYNONYMOUS_CODING LRRC23 MODERATE|MISSENSE|gAg/gTg|E50V|230|LRRC23|protein_coding|CODING|ENST00000433346|exon_12_7015009_7015118 0/1:99:209,0,238 . . . 12 7015031 rs191155150 A T NON_SYNONYMOUS_CODING LRRC23 MODERATE|MISSENSE|gAg/gTg|E50V|312|LRRC23|protein_coding|CODING|ENST00000323702|exon_12_7015009_7015118 0/1:99:209,0,238 . . . 12 7015031 rs191155150 A T NON_SYNONYMOUS_CODING LRRC23 MODERATE|MISSENSE|gAg/gTg|E50V|343|LRRC23|protein_coding|CODING|ENST00000007969|exon_12_7015009_7015118 0/1:99:209,0,238 . . . 12 7015031 rs191155150 A T NON_SYNONYMOUS_CODING LRRC23 MODERATE|MISSENSE|gAg/gTg|E50V|343|LRRC23|protein_coding|CODING|ENST00000443597|exon_12_7015009_7015118 0/1:99:209,0,238 . . . 12 7015031 rs191155150 A T NON_SYNONYMOUS_CODING LRRC23 MODERATE|MISSENSE|gAg/gTg|E50V|93|LRRC23|protein_coding|CODING|ENST00000415834|exon_12_7015009_7015118 0/1:99:209,0,238 . . . 12 7015707 rs2071073 G T NON_SYNONYMOUS_CODING LRRC23 MODERATE|MISSENSE|cGg/cTg|R124L|202|LRRC23|protein_coding|CODING|ENST00000429740|exon_12_7015573_7015826 0/1:99:128,0,255 . . . 12 7015707 rs2071073 G T NON_SYNONYMOUS_CODING LRRC23 MODERATE|MISSENSE|cGg/cTg|R124L|216|LRRC23|protein_coding|CODING|ENST00000436789|exon_12_7015573_7015826 0/1:99:128,0,255 . . . 12 7015707 rs2071073 G T NON_SYNONYMOUS_CODING LRRC23 MODERATE|MISSENSE|cGg/cTg|R124L|230|LRRC23|protein_coding|CODING|ENST00000433346|exon_12_7015573_7015826 0/1:99:128,0,255 . . . 12 7015707 rs2071073 G T NON_SYNONYMOUS_CODING LRRC23 MODERATE|MISSENSE|cGg/cTg|R124L|312|LRRC23|protein_coding|CODING|ENST00000323702|exon_12_7015573_7015826 0/1:99:128,0,255 . . . 12 7015707 rs2071073 G T NON_SYNONYMOUS_CODING LRRC23 MODERATE|MISSENSE|cGg/cTg|R124L|343|LRRC23|protein_coding|CODING|ENST00000007969|exon_12_7015573_7015826 0/1:99:128,0,255 . . . 12 7015707 rs2071073 G T NON_SYNONYMOUS_CODING LRRC23 MODERATE|MISSENSE|cGg/cTg|R124L|343|LRRC23|protein_coding|CODING|ENST00000443597|exon_12_7015573_7015826 0/1:99:128,0,255 . . . 12 7026307 rs2071417 G C NON_SYNONYMOUS_CODING ENO2 MODERATE|MISSENSE|Ggg/Cgg|G116R|125|ENO2|protein_coding|CODING|ENST00000539713|exon_12_7026202_7026423 0/1:99:163,0,209 . . . 12 7046220 . C T NON_SYNONYMOUS_CODING ATN1 MODERATE|MISSENSE|gCg/gTg|A182V|775|ATN1|protein_coding|CODING|ENST00000229279|exon_12_7045754_7046724 0/1:99:164,0,186 . . . 12 7046220 . C T NON_SYNONYMOUS_CODING ATN1 MODERATE|MISSENSE|gCg/gTg|A597V|1190|ATN1|protein_coding|CODING|ENST00000356654|exon_12_7044710_7046724 0/1:99:164,0,186 . . . 12 7046220 . C T NON_SYNONYMOUS_CODING ATN1 MODERATE|MISSENSE|gCg/gTg|A597V|1190|ATN1|protein_coding|CODING|ENST00000396684|exon_12_7044710_7046724 0/1:99:164,0,186 . . . 12 7046220 . C T NON_SYNONYMOUS_CODING ATN1 MODERATE|MISSENSE|gCg/gTg|A597V|1190|ATN1|protein_coding|CODING|ENST00000544325|exon_12_7044710_7046724 0/1:99:164,0,186 . . . 12 7090193 rs1984564 A G NON_SYNONYMOUS_CODING LPCAT3 MODERATE|MISSENSE|aTt/aCt|I217T|487|LPCAT3|protein_coding|CODING|ENST00000261407|exon_12_7090166_7090344 . . 0/1:99:248,0,209 . 12 7254669 rs3742088 A C NON_SYNONYMOUS_CODING C1RL MODERATE|MISSENSE|gTt/gGt|V29G|110|C1RL|protein_coding|CODING|ENST00000545280|exon_12_7254600_7254683 0/1:99:255,0,183 . 0/1:99:255,0,172 . 12 7280880 rs7969705 C G NON_SYNONYMOUS_CODING RBP5 MODERATE|MISSENSE|Gag/Cag|E70Q|135|RBP5|protein_coding|CODING|ENST00000266560|exon_12_7280836_7281014 0/1:99:207,0,252 . 0/1:99:223,0,255 . 12 7280880 rs7969705 C G NON_SYNONYMOUS_CODING RBP5 MODERATE|MISSENSE|Gag/Cag|E70Q|97|RBP5|protein_coding|CODING|ENST00000542370|exon_12_7280836_7281014 0/1:99:207,0,252 . 0/1:99:223,0,255 . 12 7527124 rs35480970 A G NON_SYNONYMOUS_CODING CD163L1 MODERATE|MISSENSE|aTg/aCg|M1108T|1421|CD163L1|protein_coding|CODING|ENST00000396630|exon_12_7527038_7527352 . . . 0/1:99:215,0,231 12 7527124 rs35480970 A G NON_SYNONYMOUS_CODING CD163L1 MODERATE|MISSENSE|aTg/aCg|M1108T|1453|CD163L1|protein_coding|CODING|ENST00000313599|exon_12_7527038_7527352 . . . 0/1:99:215,0,231 12 7527124 rs35480970 A G NON_SYNONYMOUS_CODING CD163L1 MODERATE|MISSENSE|aTg/aCg|M1118T|1463|CD163L1|protein_coding|CODING|ENST00000416109|exon_12_7527038_7527352 . . . 0/1:99:215,0,231 12 8085638 . C T NON_SYNONYMOUS_CODING SLC2A3 MODERATE|MISSENSE|Gtc/Atc|V41I|140|SLC2A3|protein_coding|CODING|ENST00000544291|exon_12_8085583_8085743 0/1:99:255,0,255 . . . 12 8085638 . C T NON_SYNONYMOUS_CODING SLC2A3 MODERATE|MISSENSE|Gtc/Atc|V72I|496|SLC2A3|protein_coding|CODING|ENST00000075120|exon_12_8085583_8085743 0/1:99:255,0,255 . . . 12 8997841 rs7300139 G T NON_SYNONYMOUS_CODING A2ML1 MODERATE|MISSENSE|tGc/tTc|C25F|80|A2ML1|protein_coding|CODING|ENST00000536789|exon_12_8997550_8997902 . . 0/1:99:205,0,255 0/1:99:186,0,194 12 9016456 rs73040625 C T NON_SYNONYMOUS_CODING A2ML1 MODERATE|MISSENSE|gCg/gTg|A1190V|1454|A2ML1|protein_coding|CODING|ENST00000299698|exon_12_9016390_9016604 . 0/1:99:242,0,229 . . 12 9016456 rs73040625 C T NON_SYNONYMOUS_CODING A2ML1 MODERATE|MISSENSE|gCg/gTg|A1190V|1454|A2ML1|protein_coding|CODING|ENST00000539161|exon_12_9016390_9016604 . 0/1:99:242,0,229 . . 12 9016456 rs73040625 C T NON_SYNONYMOUS_CODING A2ML1 MODERATE|MISSENSE|gCg/gTg|A699V|963|A2ML1|protein_coding|CODING|ENST00000539547|exon_12_9016390_9016604 . 0/1:99:242,0,229 . . 12 9016456 rs73040625 C T NON_SYNONYMOUS_CODING A2ML1 MODERATE|MISSENSE|gCg/gTg|A740V|1004|A2ML1|protein_coding|CODING|ENST00000541459|exon_12_9016390_9016604 . 0/1:99:242,0,229 . . 12 9321501 rs3213832 C T NON_SYNONYMOUS_CODING PZP MODERATE|MISSENSE|Gtg/Atg|V560M|1268|PZP|protein_coding|CODING|ENST00000381997|exon_12_9321465_9321570 . 0/1:99:255,0,255 . . 12 9321501 rs3213832 C T NON_SYNONYMOUS_CODING PZP MODERATE|MISSENSE|Gtg/Atg|V691M|1482|PZP|protein_coding|CODING|ENST00000261336|exon_12_9321465_9321570 . 0/1:99:255,0,255 . . 12 9984965 rs146460124 G A NON_SYNONYMOUS_CODING KLRF1 MODERATE|MISSENSE|Gtg/Atg|V47M|114|KLRF1|protein_coding|CODING|ENST00000537723|exon_12_9984912_9985010 0/1:99:255,0,255 . . . 12 9984965 rs146460124 G A NON_SYNONYMOUS_CODING KLRF1 MODERATE|MISSENSE|Gtg/Atg|V47M|182|KLRF1|protein_coding|CODING|ENST00000324214|exon_12_9984912_9985010 0/1:99:255,0,255 . . . 12 9984965 rs146460124 G A NON_SYNONYMOUS_CODING KLRF1 MODERATE|MISSENSE|Gtg/Atg|V47M|232|KLRF1|protein_coding|CODING|ENST00000279544|exon_12_9984912_9985010 0/1:99:255,0,255 . . . 12 9984965 rs146460124 G A NON_SYNONYMOUS_CODING KLRF1 MODERATE|MISSENSE|Gtg/Atg|V47M|64|KLRF1|protein_coding|CODING|ENST00000354855|exon_12_9984912_9985010 0/1:99:255,0,255 . . . 12 10658919 rs113302251 A G NON_SYNONYMOUS_CODING EIF2S3L.1 MODERATE|MISSENSE|Att/Gtt|I140V|466|EIF2S3L.1|protein_coding|CODING|ENST00000322446|exon_12_10658201_10659809 . . 0/1:99:215,0,255 . 12 10658919 rs113302251 A G NON_SYNONYMOUS_CODING EIF2S3L.1 MODERATE|MISSENSE|Att/Gtt|I140V|472|EIF2S3L.1|protein_coding|CODING|ENST00000538173|exon_12_10658489_10660090 . . 0/1:99:215,0,255 . 12 10659592 . T C NON_SYNONYMOUS_CODING EIF2S3L.1 MODERATE|MISSENSE|tTa/tCa|L364S|466|EIF2S3L.1|protein_coding|CODING|ENST00000322446|exon_12_10658201_10659809 0/1:99:255,0,255 . . . 12 10659592 . T C NON_SYNONYMOUS_CODING EIF2S3L.1 MODERATE|MISSENSE|tTa/tCa|L364S|472|EIF2S3L.1|protein_coding|CODING|ENST00000538173|exon_12_10658489_10660090 0/1:99:255,0,255 . . . 12 10783767 rs149269676 G A NON_SYNONYMOUS_CODING STYK1 MODERATE|MISSENSE|Cgg/Tgg|R110W|422|STYK1|protein_coding|CODING|ENST00000075503|exon_12_10783644_10783907 . . 0/1:99:255,0,255 . 12 11083644 rs200938454 G A NON_SYNONYMOUS_CODING PRH2 MODERATE|MISSENSE|Ggg/Agg|G162R|166|PRH2|protein_coding|CODING|ENST00000381847|exon_12_11083261_11083763 . 0/1:99:136,0,255 . . 12 11083644 rs200938454 G A NON_SYNONYMOUS_CODING PRH2 MODERATE|MISSENSE|Ggg/Agg|G162R|166|PRH2|protein_coding|CODING|ENST00000396400|exon_12_11083261_11083679 . 0/1:99:136,0,255 . . 12 11149658 rs150448607 A G NON_SYNONYMOUS_CODING TAS2R20 MODERATE|MISSENSE|Tca/Cca|S273P|309|TAS2R20|protein_coding|CODING|ENST00000538986|exon_12_11149094_11150474 0/1:99:223,0,255 . . . 12 11183108 rs12318612 G C NON_SYNONYMOUS_CODING TAS2R31 MODERATE|MISSENSE|cCa/cGa|P276R|309|TAS2R31|protein_coding|CODING|ENST00000390675|exon_12_11182986_11184006 0/1:99:255,0,255 . . 1/1:99:255,102,0 12 11183286 rs10845294 G C NON_SYNONYMOUS_CODING TAS2R31 MODERATE|MISSENSE|Caa/Gaa|Q217E|309|TAS2R31|protein_coding|CODING|ENST00000390675|exon_12_11182986_11184006 0/1:99:255,0,255 . . 1/1:99:255,82,0 12 11244470 rs201460452 T C NON_SYNONYMOUS_CODING TAS2R43 MODERATE|MISSENSE|cAc/cGc|H120R|309|TAS2R43|protein_coding|CODING|ENST00000531678|exon_12_11243886_11244912 0/1:74:71,0,233 . . . 12 11244687 rs113197337 G C NON_SYNONYMOUS_CODING TAS2R43 MODERATE|MISSENSE|Ctc/Gtc|L48V|309|TAS2R43|protein_coding|CODING|ENST00000531678|exon_12_11243886_11244912 . . . 1/1:63:183,33,0 12 11421038 rs71455367 G A NON_SYNONYMOUS_CODING PRB3 MODERATE|MISSENSE|Cgt/Tgt|R49C|309|PRB3|protein_coding|CODING|ENST00000381842|exon_12_11420579_11421082 . 0/1:92:132,0,89 . . 12 11421038 rs71455367 G A NON_SYNONYMOUS_CODING PRB3 MODERATE|MISSENSE|Cgt/Tgt|R49C|309|PRB3|protein_coding|CODING|ENST00000538488|exon_12_11420831_11421082 . 0/1:92:132,0,89 . . 12 11461549 rs11054243 G C NON_SYNONYMOUS_CODING PRB4 MODERATE|MISSENSE|cCa/cGa|P123R|247|PRB4|protein_coding|CODING|ENST00000279575|exon_12_11461155_11461816 . . . 0/1:73:70,0,155 12 11461549 rs11054243 G C NON_SYNONYMOUS_CODING PRB4 MODERATE|MISSENSE|cCa/cGa|P123R|247|PRB4|protein_coding|CODING|ENST00000535904|exon_12_11461155_11461816 . . . 0/1:73:70,0,155 12 11506774 rs202083397 C T NON_SYNONYMOUS_CODING PRB1 MODERATE|MISSENSE|cGa/cAa|R88Q|178|PRB1|protein_coding|CODING|ENST00000545626|exon_12_11506724_11506936 . . 0/1:66:63,0,255 . 12 11506774 rs202083397 C T NON_SYNONYMOUS_CODING PRB1 MODERATE|MISSENSE|cGa/cAa|R88Q|198|PRB1|protein_coding|CODING|ENST00000500254|exon_12_11506724_11506936 . . 0/1:66:63,0,255 . 12 11506774 rs202083397 C T NON_SYNONYMOUS_CODING PRB1 MODERATE|MISSENSE|cGa/cAa|R88Q|198|PRB1|protein_coding|CODING|ENST00000546254|exon_12_11506724_11506936 . . 0/1:66:63,0,255 . 12 11546192 rs10845349 G A NON_SYNONYMOUS_CODING PRB2 MODERATE|MISSENSE|Cct/Tct|P274S|416|PRB2|protein_coding|CODING|ENST00000389362|exon_12_11545728_11546911 . . 0/1:15:93,0,12 . 12 11546686 rs76832300 C T NON_SYNONYMOUS_CODING PRB2 MODERATE|MISSENSE|cGa/cAa|R109Q|416|PRB2|protein_coding|CODING|ENST00000389362|exon_12_11545728_11546911 . . . 0/1:65:62,0,204 12 12483134 rs3741803 T A NON_SYNONYMOUS_CODING MANSC1 MODERATE|MISSENSE|Aat/Tat|N294Y|350|MANSC1|protein_coding|CODING|ENST00000355566|exon_12_12482216_12483892 0/1:99:186,0,210 . . . 12 12483134 rs3741803 T A NON_SYNONYMOUS_CODING MANSC1 MODERATE|MISSENSE|Aat/Tat|N294Y|350|MANSC1|protein_coding|CODING|ENST00000545735|exon_12_12482647_12483892 0/1:99:186,0,210 . . . 12 12483134 rs3741803 T A NON_SYNONYMOUS_CODING MANSC1 MODERATE|MISSENSE|Aat/Tat|N341Y|397|MANSC1|protein_coding|CODING|ENST00000396349|exon_12_12482199_12483892 0/1:99:186,0,210 . . . 12 12483134 rs3741803 T A NON_SYNONYMOUS_CODING MANSC1 MODERATE|MISSENSE|Aat/Tat|N375Y|431|MANSC1|protein_coding|CODING|ENST00000535902|exon_12_12482198_12483892 0/1:99:186,0,210 . . . 12 12618582 . A C NON_SYNONYMOUS_CODING LOH12CR1 MODERATE|MISSENSE|Atc/Ctc|I107L|148|LOH12CR1|protein_coding|CODING|ENST00000298571|exon_12_12618480_12618778 0/1:99:157,0,255 . . . 12 12618582 . A C NON_SYNONYMOUS_CODING LOH12CR1 MODERATE|MISSENSE|Atc/Ctc|I136L|177|LOH12CR1|protein_coding|CODING|ENST00000542728|exon_12_12618480_12618717 0/1:99:157,0,255 . . . 12 12618582 . A C NON_SYNONYMOUS_CODING LOH12CR1 MODERATE|MISSENSE|Atc/Ctc|I155L|196|LOH12CR1|protein_coding|CODING|ENST00000314565|exon_12_12618480_12619840 0/1:99:157,0,255 . . . 12 12618690 rs3751262 G A NON_SYNONYMOUS_CODING LOH12CR1 MODERATE|MISSENSE|Gac/Aac|D143N|148|LOH12CR1|protein_coding|CODING|ENST00000298571|exon_12_12618480_12618778 . 0/1:99:236,0,187 0/1:99:201,0,255 . 12 12618690 rs3751262 G A NON_SYNONYMOUS_CODING LOH12CR1 MODERATE|MISSENSE|Gac/Aac|D172N|177|LOH12CR1|protein_coding|CODING|ENST00000542728|exon_12_12618480_12618717 . 0/1:99:236,0,187 0/1:99:201,0,255 . 12 12618690 rs3751262 G A NON_SYNONYMOUS_CODING LOH12CR1 MODERATE|MISSENSE|Gac/Aac|D191N|196|LOH12CR1|protein_coding|CODING|ENST00000314565|exon_12_12618480_12619840 . 0/1:99:236,0,187 0/1:99:201,0,255 . 12 12630669 rs3809199 C T NON_SYNONYMOUS_CODING DUSP16 MODERATE|MISSENSE|Gtg/Atg|V366M|665|DUSP16|protein_coding|CODING|ENST00000228862|exon_12_12628829_12630949 0/1:99:255,0,166 . . . 12 12871099 rs2066827 T G NON_SYNONYMOUS_CODING CDKN1B MODERATE|MISSENSE|gTc/gGc|V109G|198|CDKN1B|protein_coding|CODING|ENST00000228872|exon_12_12870058_12871248 . 0/1:99:217,0,151 . . 12 12871099 rs2066827 T G NON_SYNONYMOUS_CODING CDKN1B MODERATE|MISSENSE|gTc/gGc|V109G|205|CDKN1B|protein_coding|CODING|ENST00000396340|exon_12_12870756_12871248 . 0/1:99:217,0,151 . . 12 12871099 rs2066827 T G NON_SYNONYMOUS_CODING CDKN1B MODERATE|MISSENSE|gTc/gGc|V58G|147|CDKN1B|protein_coding|CODING|ENST00000535674|exon_12_12870855_12871248 . 0/1:99:217,0,151 . . 12 13243647 rs2306765 A G NON_SYNONYMOUS_CODING GSG1 MODERATE|MISSENSE|Ttt/Ctt|F36L|295|GSG1|protein_coding|CODING|ENST00000396310|exon_12_13243437_13243752 . . 0/1:99:202,0,209 . 12 13243647 rs2306765 A G NON_SYNONYMOUS_CODING GSG1 MODERATE|MISSENSE|Ttt/Ctt|F36L|340|GSG1|protein_coding|CODING|ENST00000405543|exon_12_13243437_13243752 . . 0/1:99:202,0,209 . 12 13243647 rs2306765 A G NON_SYNONYMOUS_CODING GSG1 MODERATE|MISSENSE|Ttt/Ctt|F39L|210|GSG1|protein_coding|CODING|ENST00000545699|exon_12_13243437_13243752 . . 0/1:99:202,0,209 . 12 13243647 rs2306765 A G NON_SYNONYMOUS_CODING GSG1 MODERATE|MISSENSE|Ttt/Ctt|F39L|275|GSG1|protein_coding|CODING|ENST00000457134|exon_12_13243437_13243752 . . 0/1:99:202,0,209 . 12 13243647 rs2306765 A G NON_SYNONYMOUS_CODING GSG1 MODERATE|MISSENSE|Ttt/Ctt|F39L|285|GSG1|protein_coding|CODING|ENST00000396302|exon_12_13243437_13243752 . . 0/1:99:202,0,209 . 12 13243647 rs2306765 A G NON_SYNONYMOUS_CODING GSG1 MODERATE|MISSENSE|Ttt/Ctt|F39L|298|GSG1|protein_coding|CODING|ENST00000537302|exon_12_13243437_13243752 . . 0/1:99:202,0,209 . 12 13243647 rs2306765 A G NON_SYNONYMOUS_CODING GSG1 MODERATE|MISSENSE|Ttt/Ctt|F39L|326|GSG1|protein_coding|CODING|ENST00000337630|exon_12_13243437_13243752 . . 0/1:99:202,0,209 . 12 13243647 rs2306765 A G NON_SYNONYMOUS_CODING GSG1 MODERATE|MISSENSE|Ttt/Ctt|F52L|219|GSG1|protein_coding|CODING|ENST00000542415|exon_12_13243437_13243752 . . 0/1:99:202,0,209 . 12 13243647 rs2306765 A G NON_SYNONYMOUS_CODING GSG1 MODERATE|MISSENSE|Ttt/Ctt|F52L|235|GSG1|protein_coding|CODING|ENST00000545401|exon_12_13243437_13243752 . . 0/1:99:202,0,209 . 12 13243647 rs2306765 A G NON_SYNONYMOUS_CODING GSG1 MODERATE|MISSENSE|Ttt/Ctt|F52L|321|GSG1|protein_coding|CODING|ENST00000351606|exon_12_13243437_13243752 . . 0/1:99:202,0,209 . 12 13243647 rs2306765 A G NON_SYNONYMOUS_CODING GSG1 MODERATE|MISSENSE|Ttt/Ctt|F52L|339|GSG1|protein_coding|CODING|ENST00000432710|exon_12_13243437_13243752 . . 0/1:99:202,0,209 . 12 13243647 rs2306765 A G NON_SYNONYMOUS_CODING GSG1 MODERATE|MISSENSE|Ttt/Ctt|F52L|362|GSG1|protein_coding|CODING|ENST00000324458|exon_12_13243437_13243752 . . 0/1:99:202,0,209 . 12 13366504 rs34412222 G A NON_SYNONYMOUS_CODING EMP1 MODERATE|MISSENSE|aGt/aAt|S57N|141|EMP1|protein_coding|CODING|ENST00000396301|exon_12_13366413_13366509 . . 0/1:99:255,0,229 . 12 13366504 rs34412222 G A NON_SYNONYMOUS_CODING EMP1 MODERATE|MISSENSE|aGt/aAt|S57N|145|EMP1|protein_coding|CODING|ENST00000538364|exon_12_13366413_13366509 . . 0/1:99:255,0,229 . 12 13366504 rs34412222 G A NON_SYNONYMOUS_CODING EMP1 MODERATE|MISSENSE|aGt/aAt|S57N|157|EMP1|protein_coding|CODING|ENST00000256951|exon_12_13366413_13366509 . . 0/1:99:255,0,229 . 12 13366504 rs34412222 G A NON_SYNONYMOUS_CODING EMP1 MODERATE|MISSENSE|aGt/aAt|S57N|69|EMP1|protein_coding|CODING|ENST00000537612|exon_12_13366413_13366509 . . 0/1:99:255,0,229 . 12 13526328 rs17821405 G T NON_SYNONYMOUS_CODING C12orf36 MODERATE|MISSENSE|gCg/gAg|A76E|138|C12orf36|protein_coding|CODING|ENST00000318426|exon_12_13524023_13526372 . 0/1:99:253,0,255 1/1:99:255,90,0 . 12 13526328 rs17821405 G T NON_SYNONYMOUS_CODING C12orf36 MODERATE|MISSENSE|gCg/gAg|A76E|138|C12orf36|protein_coding|CODING|ENST00000527705|exon_12_13525948_13526372 . 0/1:99:253,0,255 1/1:99:255,90,0 . 12 13527882 rs12306769 G A NON_SYNONYMOUS_CODING C12orf36 MODERATE|MISSENSE|Ctc/Ttc|L81F|117|C12orf36|protein_coding|CODING|ENST00000539026|exon_12_13527732_13527940 . . . 0/1:99:230,0,255 12 14664250 rs2287541 A G NON_SYNONYMOUS_CODING PLBD1 MODERATE|MISSENSE|gTg/gCg|V377A|553|PLBD1|protein_coding|CODING|ENST00000240617|exon_12_14664194_14664334 . . 0/1:99:255,0,253 . 12 14766058 rs35179392 T C NON_SYNONYMOUS_CODING GUCY2C MODERATE|MISSENSE|tAt/tGt|Y1072C|1073|GUCY2C|protein_coding|CODING|ENST00000261170|exon_12_14765576_14766225 0/1:99:255,0,213 . . . 12 14947995 rs201437720 A G NON_SYNONYMOUS_CODING WBP11 MODERATE|MISSENSE|aTg/aCg|M144T|607|WBP11|protein_coding|CODING|ENST00000537574|exon_12_14947905_14948038 . . 0/1:99:255,0,255 . 12 14947995 rs201437720 A G NON_SYNONYMOUS_CODING WBP11 MODERATE|MISSENSE|aTg/aCg|M144T|641|WBP11|protein_coding|CODING|ENST00000261167|exon_12_14947905_14948038 . . 0/1:99:255,0,255 . 12 14976375 rs149459242 C T NON_SYNONYMOUS_CODING C12orf60 MODERATE|MISSENSE|aCa/aTa|T169I|245|C12orf60|protein_coding|CODING|ENST00000330828|exon_12_14975846_14977349 . . 0/1:99:255,0,255 . 12 15661564 rs71459181 G A NON_SYNONYMOUS_CODING PTPRO MODERATE|MISSENSE|Gtt/Att|V443I|1188|PTPRO|protein_coding|CODING|ENST00000348962|exon_12_15661505_15661701 . . . 0/1:99:184,0,241 12 15661564 rs71459181 G A NON_SYNONYMOUS_CODING PTPRO MODERATE|MISSENSE|Gtt/Att|V443I|1216|PTPRO|protein_coding|CODING|ENST00000281171|exon_12_15661505_15661701 . . . 0/1:99:184,0,241 12 15661564 rs71459181 G A NON_SYNONYMOUS_CODING PTPRO MODERATE|MISSENSE|Gtt/Att|V443I|597|PTPRO|protein_coding|CODING|ENST00000543886|exon_12_15661505_15661701 . . . 0/1:99:184,0,241 12 18237531 rs191143010 G T NON_SYNONYMOUS_CODING RERGL MODERATE|MISSENSE|gaC/gaA|D84E|204|RERGL|protein_coding|CODING|ENST00000538724|exon_12_18237451_18237599 0/1:99:255,0,255 . . . 12 18237531 rs191143010 G T NON_SYNONYMOUS_CODING RERGL MODERATE|MISSENSE|gaC/gaA|D85E|205|RERGL|protein_coding|CODING|ENST00000229002|exon_12_18237451_18237599 0/1:99:255,0,255 . . . 12 19873577 rs12306804 C G NON_SYNONYMOUS_CODING AEBP2 MODERATE|MISSENSE|Cct/Gct|P117A|130|AEBP2|protein_coding|CODING|ENST00000512223|exon_12_19873567_19873735 . 0/1:99:255,0,255 . . 12 20522252 rs12305038 G A NON_SYNONYMOUS_CODING PDE3A MODERATE|MISSENSE|Gac/Aac|D12N|1141|PDE3A|protein_coding|CODING|ENST00000359062|exon_12_20522179_20523178 1/1:93:255,48,0 . . . 12 20864342 rs36010656 C A NON_SYNONYMOUS_CODING SLCO1C1 MODERATE|MISSENSE|Cct/Act|P143T|663|SLCO1C1|protein_coding|CODING|ENST00000540354|exon_12_20864320_20864444 . . . 0/1:99:255,0,255 12 20864342 rs36010656 C A NON_SYNONYMOUS_CODING SLCO1C1 MODERATE|MISSENSE|Cct/Act|P143T|712|SLCO1C1|protein_coding|CODING|ENST00000266509|exon_12_20864320_20864444 . . . 0/1:99:255,0,255 12 20864342 rs36010656 C A NON_SYNONYMOUS_CODING SLCO1C1 MODERATE|MISSENSE|Cct/Act|P143T|730|SLCO1C1|protein_coding|CODING|ENST00000381552|exon_12_20864320_20864444 . . . 0/1:99:255,0,255 12 20864342 rs36010656 C A NON_SYNONYMOUS_CODING SLCO1C1 MODERATE|MISSENSE|Cct/Act|P143T|730|SLCO1C1|protein_coding|CODING|ENST00000545604|exon_12_20864320_20864444 . . . 0/1:99:255,0,255 12 20864342 rs36010656 C A NON_SYNONYMOUS_CODING SLCO1C1 MODERATE|MISSENSE|Cct/Act|P25T|612|SLCO1C1|protein_coding|CODING|ENST00000545102|exon_12_20864320_20864444 . . . 0/1:99:255,0,255 12 21329813 rs11045819 C A NON_SYNONYMOUS_CODING SLCO1B1 MODERATE|MISSENSE|Cct/Act|P155T|691|SLCO1B1|protein_coding|CODING|ENST00000256958|exon_12_21329710_21329831 . 0/1:99:255,0,255 . . 12 21331549 rs4149056 T C NON_SYNONYMOUS_CODING SLCO1B1 MODERATE|MISSENSE|gTg/gCg|V174A|691|SLCO1B1|protein_coding|CODING|ENST00000256958|exon_12_21331510_21331656 . 0/1:99:255,0,227 0/1:99:224,0,251 . 12 21391976 rs34671512 A C NON_SYNONYMOUS_CODING SLCO1B1 MODERATE|MISSENSE|ttA/ttC|L643F|691|SLCO1B1|protein_coding|CODING|ENST00000256958|exon_12_21391913_21392180 . . . 1/1:99:255,111,0 12 21690035 rs117639846 C G NON_SYNONYMOUS_CODING GYS2 MODERATE|MISSENSE|caG/caC|Q655H|703|GYS2|protein_coding|CODING|ENST00000261195|exon_12_21689123_21690109 0/1:99:244,0,255 . . . 12 25232193 rs140323694 C T NON_SYNONYMOUS_CODING LRMP MODERATE|MISSENSE|Cgc/Tgc|R14C|117|LRMP|protein_coding|CODING|ENST00000550945|exon_12_25232178_25232224 . . 0/1:99:255,0,210 . 12 25232193 rs140323694 C T NON_SYNONYMOUS_CODING LRMP MODERATE|MISSENSE|Cgc/Tgc|R14C|119|LRMP|protein_coding|CODING|ENST00000557489|exon_12_25232178_25232224 . . 0/1:99:255,0,210 . 12 25232193 rs140323694 C T NON_SYNONYMOUS_CODING LRMP MODERATE|MISSENSE|Cgc/Tgc|R14C|499|LRMP|protein_coding|CODING|ENST00000354454|exon_12_25232178_25232224 . . 0/1:99:255,0,210 . 12 25232193 rs140323694 C T NON_SYNONYMOUS_CODING LRMP MODERATE|MISSENSE|Cgc/Tgc|R14C|499|LRMP|protein_coding|CODING|ENST00000547044|exon_12_25232178_25232224 . . 0/1:99:255,0,210 . 12 25232193 rs140323694 C T NON_SYNONYMOUS_CODING LRMP MODERATE|MISSENSE|Cgc/Tgc|R14C|499|LRMP|protein_coding|CODING|ENST00000548766|exon_12_25232178_25232224 . . 0/1:99:255,0,210 . 12 25232193 rs140323694 C T NON_SYNONYMOUS_CODING LRMP MODERATE|MISSENSE|Cgc/Tgc|R14C|75|LRMP|protein_coding|CODING|ENST00000554942|exon_12_25232178_25232224 . . 0/1:99:255,0,210 . 12 26383834 rs12313670 G A NON_SYNONYMOUS_CODING SSPN MODERATE|MISSENSE|aGc/aAc|S160N|217|SSPN|protein_coding|CODING|ENST00000441067|exon_12_26383644_26384501 . 0/1:99:208,0,255 . . 12 26383834 rs12313670 G A NON_SYNONYMOUS_CODING SSPN MODERATE|MISSENSE|aGc/aAc|S186N|243|SSPN|protein_coding|CODING|ENST00000242729|exon_12_26383644_26385888 . 0/1:99:208,0,255 . . 12 26383834 rs12313670 G A NON_SYNONYMOUS_CODING SSPN MODERATE|MISSENSE|aGc/aAc|S83N|119|SSPN|protein_coding|CODING|ENST00000538142|exon_12_26383644_26383947 . 0/1:99:208,0,255 . . 12 26383834 rs12313670 G A NON_SYNONYMOUS_CODING SSPN MODERATE|MISSENSE|aGc/aAc|S83N|140|SSPN|protein_coding|CODING|ENST00000422622|exon_12_26383644_26385867 . 0/1:99:208,0,255 . . 12 26383834 rs12313670 G A NON_SYNONYMOUS_CODING SSPN MODERATE|MISSENSE|aGc/aAc|S83N|140|SSPN|protein_coding|CODING|ENST00000540266|exon_12_26383644_26384079 . 0/1:99:208,0,255 . . 12 26383959 rs12313736 G A NON_SYNONYMOUS_CODING SSPN MODERATE|MISSENSE|Gtc/Atc|V125I|140|SSPN|protein_coding|CODING|ENST00000422622|exon_12_26383644_26385867 . 0/1:99:207,0,255 . . 12 26383959 rs12313736 G A NON_SYNONYMOUS_CODING SSPN MODERATE|MISSENSE|Gtc/Atc|V125I|140|SSPN|protein_coding|CODING|ENST00000540266|exon_12_26383644_26384079 . 0/1:99:207,0,255 . . 12 26383959 rs12313736 G A NON_SYNONYMOUS_CODING SSPN MODERATE|MISSENSE|Gtc/Atc|V202I|217|SSPN|protein_coding|CODING|ENST00000441067|exon_12_26383644_26384501 . 0/1:99:207,0,255 . . 12 26383959 rs12313736 G A NON_SYNONYMOUS_CODING SSPN MODERATE|MISSENSE|Gtc/Atc|V228I|243|SSPN|protein_coding|CODING|ENST00000242729|exon_12_26383644_26385888 . 0/1:99:207,0,255 . . 12 27641473 rs412978 G A NON_SYNONYMOUS_CODING C12orf70 MODERATE|MISSENSE|aGc/aAc|S148N|293|C12orf70|protein_coding|CODING|ENST00000298876|exon_12_27641393_27641480 . . 0/1:99:226,0,234 . 12 27641473 rs412978 G A NON_SYNONYMOUS_CODING C12orf70 MODERATE|MISSENSE|aGc/aAc|S198N|343|C12orf70|protein_coding|CODING|ENST00000416383|exon_12_27641393_27641480 . . 0/1:99:226,0,234 . 12 27641473 rs412978 G A NON_SYNONYMOUS_CODING C12orf70 MODERATE|MISSENSE|aGc/aAc|S198N|343|C12orf70|protein_coding|CODING|ENST00000535986|exon_12_27641393_27641480 . . 0/1:99:226,0,234 . 12 27844824 rs61757741 G A NON_SYNONYMOUS_CODING PPFIBP1 MODERATE|MISSENSE|cGc/cAc|R796H|858|PPFIBP1|protein_coding|CODING|ENST00000537927|exon_12_27844682_27844861 0/1:99:255,0,241 . . . 12 27844824 rs61757741 G A NON_SYNONYMOUS_CODING PPFIBP1 MODERATE|MISSENSE|cGc/cAc|R918H|980|PPFIBP1|protein_coding|CODING|ENST00000542629|exon_12_27844682_27844861 0/1:99:255,0,241 . . . 12 27844824 rs61757741 G A NON_SYNONYMOUS_CODING PPFIBP1 MODERATE|MISSENSE|cGc/cAc|R943H|1005|PPFIBP1|protein_coding|CODING|ENST00000228425|exon_12_27844682_27844861 0/1:99:255,0,241 . . . 12 27844824 rs61757741 G A NON_SYNONYMOUS_CODING PPFIBP1 MODERATE|MISSENSE|cGc/cAc|R949H|1011|PPFIBP1|protein_coding|CODING|ENST00000318304|exon_12_27844682_27844861 0/1:99:255,0,241 . . . 12 29936626 rs654825 C A NON_SYNONYMOUS_CODING TMTC1 MODERATE|MISSENSE|cGg/cTg|R20L|882|TMTC1|protein_coding|CODING|ENST00000539277|exon_12_29936383_29936743 0/1:75:80,0,73 0/1:53:100,0,50 . 0/1:82:79,0,154 12 29936626 rs654825 C A NON_SYNONYMOUS_CODING TMTC1 MODERATE|MISSENSE|cGg/cTg|R20L|906|TMTC1|protein_coding|CODING|ENST00000552618|exon_12_29936383_29936731 0/1:75:80,0,73 0/1:53:100,0,50 . 0/1:82:79,0,154 12 29936626 rs654825 C A NON_SYNONYMOUS_CODING TMTC1 MODERATE|MISSENSE|cGg/cTg|R20L|944|TMTC1|protein_coding|CODING|ENST00000551659|exon_12_29936383_29936830 0/1:75:80,0,73 0/1:53:100,0,50 . 0/1:82:79,0,154 12 30877343 rs142063052 T C NON_SYNONYMOUS_CODING CAPRIN2 MODERATE|MISSENSE|Acg/Gcg|T317A|793|CAPRIN2|protein_coding|CODING|ENST00000308433|exon_12_30877304_30877385 . 0/1:99:210,0,255 . . 12 30877343 rs142063052 T C NON_SYNONYMOUS_CODING CAPRIN2 MODERATE|MISSENSE|Acg/Gcg|T376A|521|CAPRIN2|protein_coding|CODING|ENST00000438006|exon_12_30877304_30877385 . 0/1:99:210,0,255 . . 12 30877343 rs142063052 T C NON_SYNONYMOUS_CODING CAPRIN2 MODERATE|MISSENSE|Acg/Gcg|T396A|706|CAPRIN2|protein_coding|CODING|ENST00000433722|exon_12_30877304_30877385 . 0/1:99:210,0,255 . . 12 30877343 rs142063052 T C NON_SYNONYMOUS_CODING CAPRIN2 MODERATE|MISSENSE|Acg/Gcg|T569A|701|CAPRIN2|protein_coding|CODING|ENST00000537108|exon_12_30877304_30877385 . 0/1:99:210,0,255 . . 12 30877343 rs142063052 T C NON_SYNONYMOUS_CODING CAPRIN2 MODERATE|MISSENSE|Acg/Gcg|T650A|1077|CAPRIN2|protein_coding|CODING|ENST00000298892|exon_12_30877304_30877385 . 0/1:99:210,0,255 . . 12 30877343 rs142063052 T C NON_SYNONYMOUS_CODING CAPRIN2 MODERATE|MISSENSE|Acg/Gcg|T650A|1127|CAPRIN2|protein_coding|CODING|ENST00000251071|exon_12_30877304_30877385 . 0/1:99:210,0,255 . . 12 30877343 rs142063052 T C NON_SYNONYMOUS_CODING CAPRIN2 MODERATE|MISSENSE|Acg/Gcg|T650A|905|CAPRIN2|protein_coding|CODING|ENST00000395805|exon_12_30877304_30877385 . 0/1:99:210,0,255 . . 12 30877343 rs142063052 T C NON_SYNONYMOUS_CODING CAPRIN2 MODERATE|MISSENSE|Acg/Gcg|T650A|960|CAPRIN2|protein_coding|CODING|ENST00000417045|exon_12_30877304_30877385 . 0/1:99:210,0,255 . . 12 30888001 rs12146709 T C NON_SYNONYMOUS_CODING CAPRIN2 MODERATE|MISSENSE|aAa/aGa|K156R|185|CAPRIN2|protein_coding|CODING|ENST00000542550|exon_12_30887910_30888140 0/1:99:255,0,255 0/1:99:255,0,255 . . 12 30888001 rs12146709 T C NON_SYNONYMOUS_CODING CAPRIN2 MODERATE|MISSENSE|aAa/aGa|K156R|701|CAPRIN2|protein_coding|CODING|ENST00000537108|exon_12_30887902_30888140 0/1:99:255,0,255 0/1:99:255,0,255 . . 12 30888001 rs12146709 T C NON_SYNONYMOUS_CODING CAPRIN2 MODERATE|MISSENSE|aAa/aGa|K237R|1077|CAPRIN2|protein_coding|CODING|ENST00000298892|exon_12_30887902_30888140 0/1:99:255,0,255 0/1:99:255,0,255 . . 12 30888001 rs12146709 T C NON_SYNONYMOUS_CODING CAPRIN2 MODERATE|MISSENSE|aAa/aGa|K237R|1127|CAPRIN2|protein_coding|CODING|ENST00000251071|exon_12_30887902_30888140 0/1:99:255,0,255 0/1:99:255,0,255 . . 12 30888001 rs12146709 T C NON_SYNONYMOUS_CODING CAPRIN2 MODERATE|MISSENSE|aAa/aGa|K237R|905|CAPRIN2|protein_coding|CODING|ENST00000395805|exon_12_30887902_30888140 0/1:99:255,0,255 0/1:99:255,0,255 . . 12 30888001 rs12146709 T C NON_SYNONYMOUS_CODING CAPRIN2 MODERATE|MISSENSE|aAa/aGa|K237R|960|CAPRIN2|protein_coding|CODING|ENST00000417045|exon_12_30887902_30888140 0/1:99:255,0,255 0/1:99:255,0,255 . . 12 30888001 rs12146709 T C NON_SYNONYMOUS_CODING CAPRIN2 MODERATE|MISSENSE|aAa/aGa|K34R|67|CAPRIN2|protein_coding|CODING|ENST00000543380|exon_12_30887902_30888140 0/1:99:255,0,255 0/1:99:255,0,255 . . 12 30888001 rs12146709 T C NON_SYNONYMOUS_CODING CAPRIN2 MODERATE|MISSENSE|aAa/aGa|K34R|83|CAPRIN2|protein_coding|CODING|ENST00000541765|exon_12_30887902_30888140 0/1:99:255,0,255 0/1:99:255,0,255 . . 12 31242073 rs201079030 T C NON_SYNONYMOUS_CODING DDX11 MODERATE|MISSENSE|Tgg/Cgg|W15R|556|DDX11|protein_coding|CODING|ENST00000404673|exon_12_31241978_31242085 0/1:54:51,0,255 . . . 12 32134207 rs2388981 C A NON_SYNONYMOUS_CODING C12orf35 MODERATE|MISSENSE|caC/caA|H106Q|1747|C12orf35|protein_coding|CODING|ENST00000312561|exon_12_32133812_32138891 . 1/1:99:255,126,0 1/1:99:255,87,0 . 12 32134207 rs2388981 C A NON_SYNONYMOUS_CODING C12orf35 MODERATE|MISSENSE|caC/caA|H106Q|673|C12orf35|protein_coding|CODING|ENST00000381054|exon_12_32133812_32135913 . 1/1:99:255,126,0 1/1:99:255,87,0 . 12 32134926 rs3207618 G A NON_SYNONYMOUS_CODING C12orf35 MODERATE|MISSENSE|aGc/aAc|S346N|1747|C12orf35|protein_coding|CODING|ENST00000312561|exon_12_32133812_32138891 . . . 0/1:99:255,0,255 12 32134926 rs3207618 G A NON_SYNONYMOUS_CODING C12orf35 MODERATE|MISSENSE|aGc/aAc|S346N|673|C12orf35|protein_coding|CODING|ENST00000381054|exon_12_32133812_32135913 . . . 0/1:99:255,0,255 12 32135186 rs3759302 T A NON_SYNONYMOUS_CODING C12orf35 MODERATE|MISSENSE|Tct/Act|S433T|1747|C12orf35|protein_coding|CODING|ENST00000312561|exon_12_32133812_32138891 . 1/1:99:255,81,0 1/1:99:255,105,0 . 12 32135186 rs3759302 T A NON_SYNONYMOUS_CODING C12orf35 MODERATE|MISSENSE|Tct/Act|S433T|673|C12orf35|protein_coding|CODING|ENST00000381054|exon_12_32133812_32135913 . 1/1:99:255,81,0 1/1:99:255,105,0 . 12 32137565 rs1057994 G A NON_SYNONYMOUS_CODING C12orf35 MODERATE|MISSENSE|Gtc/Atc|V1226I|1747|C12orf35|protein_coding|CODING|ENST00000312561|exon_12_32133812_32138891 . 1/1:99:255,126,0 1/1:99:255,75,0 . 12 32687352 rs17537634 A G NON_SYNONYMOUS_CODING FGD4 MODERATE|MISSENSE|aAa/aGa|K4R|878|FGD4|protein_coding|CODING|ENST00000525053|exon_12_32687258_32687432 . 0/1:99:255,0,184 . . 12 40811944 rs78851502 C T NON_SYNONYMOUS_CODING MUC19 MODERATE|MISSENSE|tCg/tTg|S90L|1638|MUC19|protein_coding|CODING|ENST00000425730|exon_12_40811932_40811982 0/1:99:255,0,255 . . . 12 40834423 . C T NON_SYNONYMOUS_CODING MUC19 MODERATE|MISSENSE|aCc/aTc|T817I|1638|MUC19|protein_coding|CODING|ENST00000425730|exon_12_40834376_40834428 0/1:99:255,0,255 . . . 12 41946539 rs285584 G A NON_SYNONYMOUS_CODING PDZRN4 MODERATE|MISSENSE|Ggc/Agc|G169S|776|PDZRN4|protein_coding|CODING|ENST00000298919|exon_12_41946458_41946556 . . 0/1:99:188,0,255 . 12 41946539 rs285584 G A NON_SYNONYMOUS_CODING PDZRN4 MODERATE|MISSENSE|Ggc/Agc|G171S|778|PDZRN4|protein_coding|CODING|ENST00000539469|exon_12_41946458_41946556 . . 0/1:99:188,0,255 . 12 41946539 rs285584 G A NON_SYNONYMOUS_CODING PDZRN4 MODERATE|MISSENSE|Ggc/Agc|G429S|1036|PDZRN4|protein_coding|CODING|ENST00000402685|exon_12_41946458_41946556 . . 0/1:99:188,0,255 . 12 42538274 . C T NON_SYNONYMOUS_CODING GXYLT1 MODERATE|MISSENSE|Ggc/Agc|G59S|409|GXYLT1|protein_coding|CODING|ENST00000280876|exon_12_42538228_42538514 . . . 0/1:99:126,0,146 12 42538274 . C T NON_SYNONYMOUS_CODING GXYLT1 MODERATE|MISSENSE|Ggc/Agc|G59S|440|GXYLT1|protein_coding|CODING|ENST00000398675|exon_12_42538228_42538681 . . . 0/1:99:126,0,146 12 44148259 rs1057190 T C NON_SYNONYMOUS_CODING PUS7L MODERATE|MISSENSE|Aaa/Gaa|K264E|364|PUS7L|protein_coding|CODING|ENST00000553166|exon_12_44148139_44149064 . 0/1:99:255,0,255 . 0/1:99:255,0,255 12 44148259 rs1057190 T C NON_SYNONYMOUS_CODING PUS7L MODERATE|MISSENSE|Aaa/Gaa|K264E|701|PUS7L|protein_coding|CODING|ENST00000344862|exon_12_44148139_44149064 . 0/1:99:255,0,255 . 0/1:99:255,0,255 12 44148259 rs1057190 T C NON_SYNONYMOUS_CODING PUS7L MODERATE|MISSENSE|Aaa/Gaa|K264E|701|PUS7L|protein_coding|CODING|ENST00000416848|exon_12_44148139_44149064 . 0/1:99:255,0,255 . 0/1:99:255,0,255 12 44148259 rs1057190 T C NON_SYNONYMOUS_CODING PUS7L MODERATE|MISSENSE|Aaa/Gaa|K264E|701|PUS7L|protein_coding|CODING|ENST00000551923|exon_12_44148139_44149064 . 0/1:99:255,0,255 . 0/1:99:255,0,255 12 44180295 rs4251545 G A NON_SYNONYMOUS_CODING IRAK4 MODERATE|MISSENSE|Gct/Act|A304T|336|IRAK4|protein_coding|CODING|ENST00000431837|exon_12_44180202_44180360 . 0/1:99:255,0,239 . 0/1:99:246,0,255 12 44180295 rs4251545 G A NON_SYNONYMOUS_CODING IRAK4 MODERATE|MISSENSE|Gct/Act|A304T|336|IRAK4|protein_coding|CODING|ENST00000440781|exon_12_44180202_44180360 . 0/1:99:255,0,239 . 0/1:99:246,0,255 12 44180295 rs4251545 G A NON_SYNONYMOUS_CODING IRAK4 MODERATE|MISSENSE|Gct/Act|A428T|460|IRAK4|protein_coding|CODING|ENST00000448290|exon_12_44180202_44180360 . 0/1:99:255,0,239 . 0/1:99:246,0,255 12 44180295 rs4251545 G A NON_SYNONYMOUS_CODING IRAK4 MODERATE|MISSENSE|Gct/Act|A428T|460|IRAK4|protein_coding|CODING|ENST00000551736|exon_12_44180202_44180360 . 0/1:99:255,0,239 . 0/1:99:246,0,255 12 44238723 rs1948516 G A NON_SYNONYMOUS_CODING TMEM117 MODERATE|MISSENSE|cGt/cAt|R90H|268|TMEM117|protein_coding|CODING|ENST00000551577|exon_12_44238427_44238731 . 0/1:99:255,0,255 . . 12 44238723 rs1948516 G A NON_SYNONYMOUS_CODING TMEM117 MODERATE|MISSENSE|cGt/cAt|R90H|514|TMEM117|protein_coding|CODING|ENST00000266534|exon_12_44238427_44238731 . 0/1:99:255,0,255 . . 12 47186770 rs2429467 C T NON_SYNONYMOUS_CODING SLC38A4 MODERATE|MISSENSE|Ggg/Agg|G29R|190|SLC38A4|protein_coding|CODING|ENST00000546940|exon_12_47186736_47186961 . . 0/1:99:255,0,241 . 12 47186770 rs2429467 C T NON_SYNONYMOUS_CODING SLC38A4 MODERATE|MISSENSE|Ggg/Agg|G29R|218|SLC38A4|protein_coding|CODING|ENST00000547477|exon_12_47186736_47186966 . . 0/1:99:255,0,241 . 12 47186770 rs2429467 C T NON_SYNONYMOUS_CODING SLC38A4 MODERATE|MISSENSE|Ggg/Agg|G29R|259|SLC38A4|protein_coding|CODING|ENST00000395426|exon_12_47186736_47186966 . . 0/1:99:255,0,241 . 12 47186770 rs2429467 C T NON_SYNONYMOUS_CODING SLC38A4 MODERATE|MISSENSE|Ggg/Agg|G29R|547|SLC38A4|protein_coding|CODING|ENST00000266579|exon_12_47186736_47186966 . . 0/1:99:255,0,241 . 12 47186770 rs2429467 C T NON_SYNONYMOUS_CODING SLC38A4 MODERATE|MISSENSE|Ggg/Agg|G29R|547|SLC38A4|protein_coding|CODING|ENST00000447411|exon_12_47186736_47186966 . . 0/1:99:255,0,241 . 12 47471980 rs145725599 G A NON_SYNONYMOUS_CODING AMIGO2 MODERATE|MISSENSE|tCg/tTg|S269L|522|AMIGO2|protein_coding|CODING|ENST00000266581|exon_12_47469490_47472848 . . 0/1:99:143,0,255 . 12 47471980 rs145725599 G A NON_SYNONYMOUS_CODING AMIGO2 MODERATE|MISSENSE|tCg/tTg|S269L|522|AMIGO2|protein_coding|CODING|ENST00000321382|exon_12_47471204_47472848 . . 0/1:99:143,0,255 . 12 47471980 rs145725599 G A NON_SYNONYMOUS_CODING AMIGO2 MODERATE|MISSENSE|tCg/tTg|S269L|522|AMIGO2|protein_coding|CODING|ENST00000429635|exon_12_47470383_47472848 . . 0/1:99:143,0,255 . 12 47471980 rs145725599 G A NON_SYNONYMOUS_CODING AMIGO2 MODERATE|MISSENSE|tCg/tTg|S269L|522|AMIGO2|protein_coding|CODING|ENST00000550413|exon_12_47470281_47472848 . . 0/1:99:143,0,255 . 12 48142636 rs12422983 C T NON_SYNONYMOUS_CODING RAPGEF3 MODERATE|MISSENSE|Ggc/Agc|G21S|570|RAPGEF3|protein_coding|CODING|ENST00000541821|exon_12_48142602_48142714 . 1/1:81:255,42,0 . . 12 48142636 rs12422983 C T NON_SYNONYMOUS_CODING RAPGEF3 MODERATE|MISSENSE|Ggc/Agc|G332S|814|RAPGEF3|protein_coding|CODING|ENST00000548919|exon_12_48142602_48142714 . 1/1:81:255,42,0 . . 12 48142636 rs12422983 C T NON_SYNONYMOUS_CODING RAPGEF3 MODERATE|MISSENSE|Ggc/Agc|G332S|881|RAPGEF3|protein_coding|CODING|ENST00000171000|exon_12_48142602_48142714 . 1/1:81:255,42,0 . . 12 48142636 rs12422983 C T NON_SYNONYMOUS_CODING RAPGEF3 MODERATE|MISSENSE|Ggc/Agc|G332S|881|RAPGEF3|protein_coding|CODING|ENST00000389211|exon_12_48142602_48142714 . 1/1:81:255,42,0 . . 12 48142636 rs12422983 C T NON_SYNONYMOUS_CODING RAPGEF3 MODERATE|MISSENSE|Ggc/Agc|G332S|881|RAPGEF3|protein_coding|CODING|ENST00000405493|exon_12_48142602_48142714 . 1/1:81:255,42,0 . . 12 48142636 rs12422983 C T NON_SYNONYMOUS_CODING RAPGEF3 MODERATE|MISSENSE|Ggc/Agc|G332S|881|RAPGEF3|protein_coding|CODING|ENST00000549151|exon_12_48142602_48142714 . 1/1:81:255,42,0 . . 12 48142636 rs12422983 C T NON_SYNONYMOUS_CODING RAPGEF3 MODERATE|MISSENSE|Ggc/Agc|G374S|598|RAPGEF3|protein_coding|CODING|ENST00000395358|exon_12_48142602_48142714 . 1/1:81:255,42,0 . . 12 48142636 rs12422983 C T NON_SYNONYMOUS_CODING RAPGEF3 MODERATE|MISSENSE|Ggc/Agc|G374S|923|RAPGEF3|protein_coding|CODING|ENST00000389212|exon_12_48142602_48142714 . 1/1:81:255,42,0 . . 12 48142636 rs12422983 C T NON_SYNONYMOUS_CODING RAPGEF3 MODERATE|MISSENSE|Ggc/Agc|G374S|923|RAPGEF3|protein_coding|CODING|ENST00000449771|exon_12_48142602_48142714 . 1/1:81:255,42,0 . . 12 48142636 rs12422983 C T NON_SYNONYMOUS_CODING RAPGEF3 MODERATE|MISSENSE|Ggc/Agc|G386S|868|RAPGEF3|protein_coding|CODING|ENST00000397089|exon_12_48142602_48142714 . 1/1:81:255,42,0 . . 12 48391657 rs34392760 T A NON_SYNONYMOUS_CODING COL2A1 MODERATE|MISSENSE|gaA/gaT|E142D|1487|COL2A1|protein_coding|CODING|ENST00000380518|exon_12_48391654_48391707 . . . 0/1:99:180,0,255 12 48391657 rs34392760 T A NON_SYNONYMOUS_CODING COL2A1 MODERATE|MISSENSE|gaA/gaT|E73D|1418|COL2A1|protein_coding|CODING|ENST00000337299|exon_12_48391654_48391707 . . . 0/1:99:180,0,255 12 48391657 rs34392760 T A NON_SYNONYMOUS_CODING COL2A1 MODERATE|MISSENSE|gaA/gaT|E73D|1418|COL2A1|protein_coding|CODING|ENST00000395281|exon_12_48391654_48391707 . . . 0/1:99:180,0,255 12 48512331 rs11168414 C T NON_SYNONYMOUS_CODING PFKM MODERATE|MISSENSE|cCg/cTg|P91L|124|PFKM|protein_coding|CODING|ENST00000546755|exon_12_48512265_48512360 . . 0/1:99:255,0,255 1/1:99:255,75,0 12 48512331 rs11168414 C T NON_SYNONYMOUS_CODING PFKM MODERATE|MISSENSE|cCg/cTg|P91L|164|PFKM|protein_coding|CODING|ENST00000549366|exon_12_48512265_48512360 . . 0/1:99:255,0,255 1/1:99:255,75,0 12 48526712 rs2228500 G A NON_SYNONYMOUS_CODING PFKM MODERATE|MISSENSE|cGa/cAa|R100Q|115|PFKM|protein_coding|CODING|ENST00000549003|exon_12_48526651_48526763 . . 0/1:99:255,0,255 1/1:99:255,75,0 12 48526712 rs2228500 G A NON_SYNONYMOUS_CODING PFKM MODERATE|MISSENSE|cGa/cAa|R100Q|138|PFKM|protein_coding|CODING|ENST00000551339|exon_12_48526651_48526832 . . 0/1:99:255,0,255 1/1:99:255,75,0 12 48526712 rs2228500 G A NON_SYNONYMOUS_CODING PFKM MODERATE|MISSENSE|cGa/cAa|R100Q|155|PFKM|protein_coding|CODING|ENST00000548345|exon_12_48526651_48526840 . . 0/1:99:255,0,255 1/1:99:255,75,0 12 48526712 rs2228500 G A NON_SYNONYMOUS_CODING PFKM MODERATE|MISSENSE|cGa/cAa|R100Q|156|PFKM|protein_coding|CODING|ENST00000550345|exon_12_48526651_48526840 . . 0/1:99:255,0,255 1/1:99:255,75,0 12 48526712 rs2228500 G A NON_SYNONYMOUS_CODING PFKM MODERATE|MISSENSE|cGa/cAa|R100Q|160|PFKM|protein_coding|CODING|ENST00000549022|exon_12_48526651_48526840 . . 0/1:99:255,0,255 1/1:99:255,75,0 12 48526712 rs2228500 G A NON_SYNONYMOUS_CODING PFKM MODERATE|MISSENSE|cGa/cAa|R100Q|749|PFKM|protein_coding|CODING|ENST00000395233|exon_12_48526651_48526840 . . 0/1:99:255,0,255 1/1:99:255,75,0 12 48526712 rs2228500 G A NON_SYNONYMOUS_CODING PFKM MODERATE|MISSENSE|cGa/cAa|R100Q|749|PFKM|protein_coding|CODING|ENST00000551804|exon_12_48526651_48526840 . . 0/1:99:255,0,255 1/1:99:255,75,0 12 48526712 rs2228500 G A NON_SYNONYMOUS_CODING PFKM MODERATE|MISSENSE|cGa/cAa|R100Q|780|PFKM|protein_coding|CODING|ENST00000312352|exon_12_48526651_48526840 . . 0/1:99:255,0,255 1/1:99:255,75,0 12 48526712 rs2228500 G A NON_SYNONYMOUS_CODING PFKM MODERATE|MISSENSE|cGa/cAa|R100Q|780|PFKM|protein_coding|CODING|ENST00000359794|exon_12_48526651_48526840 . . 0/1:99:255,0,255 1/1:99:255,75,0 12 48526712 rs2228500 G A NON_SYNONYMOUS_CODING PFKM MODERATE|MISSENSE|cGa/cAa|R100Q|780|PFKM|protein_coding|CODING|ENST00000547587|exon_12_48526651_48526840 . . 0/1:99:255,0,255 1/1:99:255,75,0 12 48526712 rs2228500 G A NON_SYNONYMOUS_CODING PFKM MODERATE|MISSENSE|cGa/cAa|R133Q|151|PFKM|protein_coding|CODING|ENST00000549941|exon_12_48526651_48526772 . . 0/1:99:255,0,255 1/1:99:255,75,0 12 48526712 rs2228500 G A NON_SYNONYMOUS_CODING PFKM MODERATE|MISSENSE|cGa/cAa|R171Q|851|PFKM|protein_coding|CODING|ENST00000340802|exon_12_48526651_48526840 . . 0/1:99:255,0,255 1/1:99:255,75,0 12 48543237 rs75959434 C T NON_SYNONYMOUS_CODING ASB8 MODERATE|MISSENSE|cGt/cAt|R227H|255|ASB8|protein_coding|CODING|ENST00000446549|exon_12_48542922_48543579 . . . 0/1:99:223,0,255 12 48543237 rs75959434 C T NON_SYNONYMOUS_CODING ASB8 MODERATE|MISSENSE|cGt/cAt|R260H|288|ASB8|protein_coding|CODING|ENST00000317697|exon_12_48541571_48543781 . . . 0/1:99:223,0,255 12 48543237 rs75959434 C T NON_SYNONYMOUS_CODING ASB8 MODERATE|MISSENSE|cGt/cAt|R260H|288|ASB8|protein_coding|CODING|ENST00000536549|exon_12_48541572_48543781 . . . 0/1:99:223,0,255 12 48596241 rs11168459 A G NON_SYNONYMOUS_CODING OR10AD1 MODERATE|MISSENSE|Tac/Cac|Y279H|317|OR10AD1|protein_coding|CODING|ENST00000310248|exon_12_48596081_48597170 . . 0/1:99:255,0,198 1/1:99:255,129,0 12 48596325 . A G NON_SYNONYMOUS_CODING OR10AD1 MODERATE|MISSENSE|Ttt/Ctt|F251L|317|OR10AD1|protein_coding|CODING|ENST00000310248|exon_12_48596081_48597170 0/1:99:214,0,176 . . . 12 48597053 rs17122812 A G NON_SYNONYMOUS_CODING OR10AD1 MODERATE|MISSENSE|gTg/gCg|V8A|317|OR10AD1|protein_coding|CODING|ENST00000310248|exon_12_48596081_48597170 . . 0/1:99:133,0,211 1/1:99:255,81,0 12 48723595 rs1471997 G A NON_SYNONYMOUS_CODING H1FNT MODERATE|MISSENSE|cGg/cAg|R174Q|255|H1FNT|protein_coding|CODING|ENST00000335017|exon_12_48722763_48724062 . . 0/1:99:248,0,246 1/1:99:255,60,0 12 49087325 rs61751603 T C NON_SYNONYMOUS_CODING CCNT1 MODERATE|MISSENSE|Acc/Gcc|T558A|726|CCNT1|protein_coding|CODING|ENST00000261900|exon_12_49082247_49088219 . . . 0/1:99:251,0,255 12 49170029 rs143114060 A G NON_SYNONYMOUS_CODING ADCY6 MODERATE|MISSENSE|aTt/aCt|I547T|1115|ADCY6|protein_coding|CODING|ENST00000357869|exon_12_49169992_49170133 0/1:97:255,0,94 . . . 12 49170029 rs143114060 A G NON_SYNONYMOUS_CODING ADCY6 MODERATE|MISSENSE|aTt/aCt|I547T|1115|ADCY6|protein_coding|CODING|ENST00000550422|exon_12_49169992_49170133 0/1:97:255,0,94 . . . 12 49170029 rs143114060 A G NON_SYNONYMOUS_CODING ADCY6 MODERATE|MISSENSE|aTt/aCt|I547T|1168|ADCY6|protein_coding|CODING|ENST00000307885|exon_12_49169992_49170133 0/1:97:255,0,94 . . . 12 49435240 . G A NON_SYNONYMOUS_CODING MLL2 MODERATE|MISSENSE|Cgc/Tgc|R2105C|5537|MLL2|protein_coding|CODING|ENST00000301067|exon_12_49433507_49435318 . . . 0/1:99:167,0,164 12 49950251 rs113209368 C G NON_SYNONYMOUS_CODING KCNH3 MODERATE|MISSENSE|cCt/cGt|P856R|1083|KCNH3|protein_coding|CODING|ENST00000257981|exon_12_49950153_49950259 . 0/1:99:113,0,250 . 0/1:99:255,0,167 12 49951377 rs59261129 C T NON_SYNONYMOUS_CODING KCNH3 MODERATE|MISSENSE|Cgt/Tgt|R965C|1083|KCNH3|protein_coding|CODING|ENST00000257981|exon_12_49951137_49952077 . 0/1:99:194,0,215 . . 12 49951528 rs144397719 C T NON_SYNONYMOUS_CODING KCNH3 MODERATE|MISSENSE|cCt/cTt|P1015L|1083|KCNH3|protein_coding|CODING|ENST00000257981|exon_12_49951137_49952077 . 0/1:99:202,0,218 . . 12 49992722 rs140003810 G A NON_SYNONYMOUS_CODING FAM186B MODERATE|MISSENSE|gCg/gTg|A340V|506|FAM186B|protein_coding|CODING|ENST00000532262|exon_12_49992538_49992730 0/1:99:124,0,255 . . . 12 49992722 rs140003810 G A NON_SYNONYMOUS_CODING FAM186B MODERATE|MISSENSE|gCg/gTg|A637V|781|FAM186B|protein_coding|CODING|ENST00000544141|exon_12_49992538_49992730 0/1:99:124,0,255 . . . 12 49992722 rs140003810 G A NON_SYNONYMOUS_CODING FAM186B MODERATE|MISSENSE|gCg/gTg|A727V|893|FAM186B|protein_coding|CODING|ENST00000257894|exon_12_49992538_49992730 0/1:99:124,0,255 . . . 12 49993678 rs52824916 C T NON_SYNONYMOUS_CODING FAM186B MODERATE|MISSENSE|cGg/cAg|R195Q|506|FAM186B|protein_coding|CODING|ENST00000532262|exon_12_49993252_49994261 0/1:99:145,0,254 0/1:99:251,0,122 . . 12 49993678 rs52824916 C T NON_SYNONYMOUS_CODING FAM186B MODERATE|MISSENSE|cGg/cAg|R492Q|781|FAM186B|protein_coding|CODING|ENST00000544141|exon_12_49993252_49994917 0/1:99:145,0,254 0/1:99:251,0,122 . . 12 49993678 rs52824916 C T NON_SYNONYMOUS_CODING FAM186B MODERATE|MISSENSE|cGg/cAg|R582Q|893|FAM186B|protein_coding|CODING|ENST00000257894|exon_12_49993252_49994917 0/1:99:145,0,254 0/1:99:251,0,122 . . 12 50027263 . TTATTACTAT TTAT CODON_DELETION PRPF40B MODERATE||tactat/-|YY145-|858|PRPF40B|protein_coding|CODING|ENST00000261897|exon_12_50027210_50027330 . . 0/1:99:184,0,255 . 12 50027263 . TTATTACTAT TTAT CODON_DELETION PRPF40B MODERATE||tactat/-|YY151-|871|PRPF40B|protein_coding|CODING|ENST00000380281|exon_12_50027210_50027330 . . 0/1:99:184,0,255 . 12 50027263 . TTATTACTAT TTAT CODON_DELETION PRPF40B MODERATE||tactat/-|YY173-|200|PRPF40B|protein_coding|CODING|ENST00000548825|exon_12_50027210_50027330 . . 0/1:99:184,0,255 . 12 50232608 rs145982210 C T NON_SYNONYMOUS_CODING BCDIN3D MODERATE|MISSENSE|cGg/cAg|R142Q|292|BCDIN3D|protein_coding|CODING|ENST00000333924|exon_12_50231573_50232798 . . . 0/1:99:255,0,255 12 50745811 rs34782671 G A NON_SYNONYMOUS_CODING FAM186A MODERATE|MISSENSE|Cct/Tct|P1602S|2348|FAM186A|protein_coding|CODING|ENST00000543111|exon_12_50744112_50750031 0/1:77:74,0,147 . . . 12 50745811 rs34782671 G A NON_SYNONYMOUS_CODING FAM186A MODERATE|MISSENSE|Cct/Tct|P1602S|2351|FAM186A|protein_coding|CODING|ENST00000327337|exon_12_50744112_50750031 0/1:77:74,0,147 . . . 12 50748127 rs201058635 C T NON_SYNONYMOUS_CODING FAM186A MODERATE|MISSENSE|Ggt/Agt|G830S|2348|FAM186A|protein_coding|CODING|ENST00000543111|exon_12_50744112_50750031 . . 0/1:99:255,0,235 . 12 50748127 rs201058635 C T NON_SYNONYMOUS_CODING FAM186A MODERATE|MISSENSE|Ggt/Agt|G830S|2351|FAM186A|protein_coding|CODING|ENST00000327337|exon_12_50744112_50750031 . . 0/1:99:255,0,235 . 12 50748945 . T A NON_SYNONYMOUS_CODING FAM186A MODERATE|MISSENSE|gAc/gTc|D557V|2348|FAM186A|protein_coding|CODING|ENST00000543111|exon_12_50744112_50750031 0/1:99:255,0,255 . . . 12 50748945 . T A NON_SYNONYMOUS_CODING FAM186A MODERATE|MISSENSE|gAc/gTc|D557V|2351|FAM186A|protein_coding|CODING|ENST00000327337|exon_12_50744112_50750031 0/1:99:255,0,255 . . . 12 51737562 rs17860300 T C NON_SYNONYMOUS_CODING CELA1 MODERATE|MISSENSE|Atg/Gtg|M59V|258|CELA1|protein_coding|CODING|ENST00000293636|exon_12_51737537_51737637 . . 1/1:99:255,84,0 . 12 51740416 rs61761206 C G NON_SYNONYMOUS_CODING CELA1 MODERATE|MISSENSE|Gtc/Ctc|V3L|258|CELA1|protein_coding|CODING|ENST00000293636|exon_12_51740407_51740463 . . 1/1:10:68,6,0 . 12 52685213 rs79897879 T G NON_SYNONYMOUS_CODING KRT81 MODERATE|MISSENSE|Agc/Cgc|S13R|484|KRT81|protein_coding|CODING|ENST00000389388|exon_12_52684881_52685299 0/1:99:145,0,181 . . . 12 52685213 rs79897879 T G NON_SYNONYMOUS_CODING KRT81 MODERATE|MISSENSE|Agc/Cgc|S13R|505|KRT81|protein_coding|CODING|ENST00000327741|exon_12_52684881_52685318 0/1:99:145,0,181 . . . 12 52822128 rs2232406 G A NON_SYNONYMOUS_CODING KRT75 MODERATE|MISSENSE|Cgt/Tgt|R432C|551|KRT75|protein_coding|CODING|ENST00000252245|exon_12_52822040_52822260 0/1:95:132,0,92 . . . 12 52827608 rs2232387 C T NON_SYNONYMOUS_CODING KRT75 MODERATE|MISSENSE|Gcc/Acc|A161T|551|KRT75|protein_coding|CODING|ENST00000252245|exon_12_52827591_52828309 . 0/1:99:200,0,253 . . 12 52841179 rs61746354 T C NON_SYNONYMOUS_CODING KRT6B MODERATE|MISSENSE|tAt/tGt|Y457C|524|KRT6B|protein_coding|CODING|ENST00000544607|exon_12_52840935_52841209 . . 0/1:99:208,0,203 0/1:99:202,0,127 12 52841179 rs61746354 T C NON_SYNONYMOUS_CODING KRT6B MODERATE|MISSENSE|tAt/tGt|Y497C|564|KRT6B|protein_coding|CODING|ENST00000252252|exon_12_52840435_52841209 . . 0/1:99:208,0,203 0/1:99:202,0,127 12 52845435 rs80158424 C T NON_SYNONYMOUS_CODING KRT6B MODERATE|MISSENSE|aGt/aAt|S143N|524|KRT6B|protein_coding|CODING|ENST00000544607|exon_12_52845323_52845971 . 0/1:99:165,0,177 . . 12 52845435 rs80158424 C T NON_SYNONYMOUS_CODING KRT6B MODERATE|MISSENSE|aGt/aAt|S143N|564|KRT6B|protein_coding|CODING|ENST00000252252|exon_12_52845323_52845910 . 0/1:99:165,0,177 . . 12 52845574 rs144860693 C T NON_SYNONYMOUS_CODING KRT6B MODERATE|MISSENSE|Ggg/Agg|G97R|524|KRT6B|protein_coding|CODING|ENST00000544607|exon_12_52845323_52845971 . 1/1:31:215,17,0 . . 12 52845574 rs144860693 C T NON_SYNONYMOUS_CODING KRT6B MODERATE|MISSENSE|Ggg/Agg|G97R|564|KRT6B|protein_coding|CODING|ENST00000252252|exon_12_52845323_52845910 . 1/1:31:215,17,0 . . 12 52865925 rs17099602 C T NON_SYNONYMOUS_CODING KRT6C MODERATE|MISSENSE|aGc/aAc|S212N|549|KRT6C|protein_coding|CODING|ENST00000411979|exon_12_52865850_52866064 . . 0/1:66:63,0,150 . 12 52865925 rs17099602 C T NON_SYNONYMOUS_CODING KRT6C MODERATE|MISSENSE|aGc/aAc|S227N|564|KRT6C|protein_coding|CODING|ENST00000252250|exon_12_52865850_52866064 . . 0/1:66:63,0,150 . 12 52867094 rs151117600 C T NON_SYNONYMOUS_CODING KRT6C MODERATE|MISSENSE|aGt/aAt|S128N|549|KRT6C|protein_coding|CODING|ENST00000411979|exon_12_52866982_52867435 . 0/1:60:138,0,57 . . 12 52867094 rs151117600 C T NON_SYNONYMOUS_CODING KRT6C MODERATE|MISSENSE|aGt/aAt|S143N|564|KRT6C|protein_coding|CODING|ENST00000252250|exon_12_52866982_52867569 . 0/1:60:138,0,57 . . 12 52867190 rs394598 C T NON_SYNONYMOUS_CODING KRT6C MODERATE|MISSENSE|gGt/gAt|G111D|564|KRT6C|protein_coding|CODING|ENST00000252250|exon_12_52866982_52867569 0/1:67:64,0,188 . . . 12 52867190 rs394598 C T NON_SYNONYMOUS_CODING KRT6C MODERATE|MISSENSE|gGt/gAt|G96D|549|KRT6C|protein_coding|CODING|ENST00000411979|exon_12_52866982_52867435 0/1:67:64,0,188 . . . 12 52908872 rs11549949 C T NON_SYNONYMOUS_CODING KRT5 MODERATE|MISSENSE|Ggt/Agt|G508S|555|KRT5|protein_coding|CODING|ENST00000456000|exon_12_52908361_52909024 . 0/1:99:154,0,101 . . 12 52908872 rs11549949 C T NON_SYNONYMOUS_CODING KRT5 MODERATE|MISSENSE|Ggt/Agt|G543S|590|KRT5|protein_coding|CODING|ENST00000252242|exon_12_52908359_52909024 . 0/1:99:154,0,101 . . 12 52908917 rs11549950 T C NON_SYNONYMOUS_CODING KRT5 MODERATE|MISSENSE|Agc/Ggc|S493G|555|KRT5|protein_coding|CODING|ENST00000456000|exon_12_52908361_52909024 . 0/1:99:175,0,170 . . 12 52908917 rs11549950 T C NON_SYNONYMOUS_CODING KRT5 MODERATE|MISSENSE|Agc/Ggc|S528G|590|KRT5|protein_coding|CODING|ENST00000252242|exon_12_52908359_52909024 . 0/1:99:175,0,170 . . 12 52938320 rs2292506 C T NON_SYNONYMOUS_CODING KRT71 MODERATE|MISSENSE|cGg/cAg|R523Q|523|KRT71|protein_coding|CODING|ENST00000267119|exon_12_52937693_52938527 . . . 0/1:99:255,0,228 12 53069243 rs77846840 T C NON_SYNONYMOUS_CODING KRT1 MODERATE|MISSENSE|Agc/Ggc|S557G|644|KRT1|protein_coding|CODING|ENST00000252244|exon_12_53068520_53069401 . . . 0/1:72:74,0,71 12 53088525 rs585664 G A NON_SYNONYMOUS_CODING KRT77 MODERATE|MISSENSE|tCc/tTc|S322F|578|KRT77|protein_coding|CODING|ENST00000341809|exon_12_53088410_53088574 . . 0/1:99:255,0,255 . 12 53088525 rs585664 G A NON_SYNONYMOUS_CODING KRT77 MODERATE|MISSENSE|tCc/tTc|S89F|345|KRT77|protein_coding|CODING|ENST00000537195|exon_12_53088410_53088574 . . 0/1:99:255,0,255 . 12 53091676 rs668313 C T NON_SYNONYMOUS_CODING KRT77 MODERATE|MISSENSE|cGa/cAa|R183Q|578|KRT77|protein_coding|CODING|ENST00000341809|exon_12_53091466_53091680 . . 0/1:99:255,0,195 . 12 53170948 . G A NON_SYNONYMOUS_CODING KRT76 MODERATE|MISSENSE|gCc/gTc|A43V|638|KRT76|protein_coding|CODING|ENST00000332411|exon_12_53170476_53171129 . . . 0/1:99:183,0,253 12 53216950 rs73102423 T C NON_SYNONYMOUS_CODING KRT79 MODERATE|MISSENSE|aAg/aGg|K406R|535|KRT79|protein_coding|CODING|ENST00000330553|exon_12_53216800_53217020 . 0/1:99:237,0,176 . . 12 53216989 rs17688627 G A NON_SYNONYMOUS_CODING KRT79 MODERATE|MISSENSE|gCg/gTg|A393V|535|KRT79|protein_coding|CODING|ENST00000330553|exon_12_53216800_53217020 . . 0/1:99:204,0,224 . 12 53242579 rs2253798 C T NON_SYNONYMOUS_CODING KRT78 MODERATE|MISSENSE|Ggg/Agg|G46R|520|KRT78|protein_coding|CODING|ENST00000304620|exon_12_53242331_53242778 . 0/1:99:206,0,223 . . 12 53431298 rs146008363 T A NON_SYNONYMOUS_CODING EIF4B MODERATE|MISSENSE|cTa/cAa|L432Q|572|EIF4B|protein_coding|CODING|ENST00000416762|exon_12_53431193_53431406 . . . 0/1:99:191,0,174 12 53431298 rs146008363 T A NON_SYNONYMOUS_CODING EIF4B MODERATE|MISSENSE|cTa/cAa|L447Q|587|EIF4B|protein_coding|CODING|ENST00000430205|exon_12_53431193_53431406 . . . 0/1:99:191,0,174 12 53431298 rs146008363 T A NON_SYNONYMOUS_CODING EIF4B MODERATE|MISSENSE|cTa/cAa|L471Q|611|EIF4B|protein_coding|CODING|ENST00000262056|exon_12_53431193_53431406 . . . 0/1:99:191,0,174 12 53431298 rs146008363 T A NON_SYNONYMOUS_CODING EIF4B MODERATE|MISSENSE|cTa/cAa|L476Q|616|EIF4B|protein_coding|CODING|ENST00000420463|exon_12_53431193_53431406 . . . 0/1:99:191,0,174 12 53471929 rs7302636 T C NON_SYNONYMOUS_CODING SPRYD3 MODERATE|MISSENSE|aAt/aGt|N17S|479|SPRYD3|protein_coding|CODING|ENST00000547837|exon_12_53471845_53471955 . . 0/1:99:255,0,234 0/1:99:232,0,186 12 53497402 rs9658625 A G NON_SYNONYMOUS_CODING SOAT2 MODERATE|MISSENSE|gAa/gGa|E14G|169|SOAT2|protein_coding|CODING|ENST00000551896|exon_12_53497302_53497443 0/1:99:192,0,198 . . . 12 53497402 rs9658625 A G NON_SYNONYMOUS_CODING SOAT2 MODERATE|MISSENSE|gAa/gGa|E14G|522|SOAT2|protein_coding|CODING|ENST00000301466|exon_12_53497302_53497443 0/1:99:192,0,198 . . . 12 53509933 rs2272296 C T NON_SYNONYMOUS_CODING SOAT2 MODERATE|MISSENSE|aCc/aTc|T254I|522|SOAT2|protein_coding|CODING|ENST00000301466|exon_12_53509881_53509950 0/1:99:255,0,166 . . . 12 53680011 rs111320105 T G NON_SYNONYMOUS_CODING ESPL1 MODERATE|MISSENSE|gTa/gGa|V1164G|2120|ESPL1|protein_coding|CODING|ENST00000257934|exon_12_53679708_53680696 . 0/1:99:195,0,237 . . 12 53680011 rs111320105 T G NON_SYNONYMOUS_CODING ESPL1 MODERATE|MISSENSE|gTa/gGa|V1164G|2120|ESPL1|protein_coding|CODING|ENST00000552462|exon_12_53679708_53680696 . 0/1:99:195,0,237 . . 12 53694028 rs192808554 G A NON_SYNONYMOUS_CODING C12orf10 MODERATE|MISSENSE|cGa/cAa|R104Q|325|C12orf10|protein_coding|CODING|ENST00000545214|exon_12_53693934_53694046 0/1:99:251,0,206 . . . 12 53694028 rs192808554 G A NON_SYNONYMOUS_CODING C12orf10 MODERATE|MISSENSE|cGa/cAa|R104Q|376|C12orf10|protein_coding|CODING|ENST00000267103|exon_12_53693934_53694046 0/1:99:251,0,206 . . . 12 53694028 rs192808554 G A NON_SYNONYMOUS_CODING C12orf10 MODERATE|MISSENSE|cGa/cAa|R80Q|301|C12orf10|protein_coding|CODING|ENST00000548632|exon_12_53693934_53694046 0/1:99:251,0,206 . . . 12 54109597 . C T NON_SYNONYMOUS_CODING CALCOCO1 MODERATE|MISSENSE|Ggg/Agg|G329R|606|CALCOCO1|protein_coding|CODING|ENST00000430117|exon_12_54109577_54109831 . . 0/1:99:165,0,255 . 12 54109597 . C T NON_SYNONYMOUS_CODING CALCOCO1 MODERATE|MISSENSE|Ggg/Agg|G352R|629|CALCOCO1|protein_coding|CODING|ENST00000413257|exon_12_54109577_54109831 . . 0/1:99:165,0,255 . 12 54109597 . C T NON_SYNONYMOUS_CODING CALCOCO1 MODERATE|MISSENSE|Ggg/Agg|G414R|633|CALCOCO1|protein_coding|CODING|ENST00000548263|exon_12_54109577_54109831 . . 0/1:99:165,0,255 . 12 54109597 . C T NON_SYNONYMOUS_CODING CALCOCO1 MODERATE|MISSENSE|Ggg/Agg|G414R|690|CALCOCO1|protein_coding|CODING|ENST00000262059|exon_12_54109577_54109831 . . 0/1:99:165,0,255 . 12 54109597 . C T NON_SYNONYMOUS_CODING CALCOCO1 MODERATE|MISSENSE|Ggg/Agg|G414R|691|CALCOCO1|protein_coding|CODING|ENST00000550804|exon_12_54109577_54109831 . . 0/1:99:165,0,255 . 12 54109597 . C T NON_SYNONYMOUS_CODING CALCOCO1 MODERATE|MISSENSE|Ggg/Agg|G91R|392|CALCOCO1|protein_coding|CODING|ENST00000342760|exon_12_54109577_54109831 . . 0/1:99:165,0,255 . 12 54109659 rs3741659 C T NON_SYNONYMOUS_CODING CALCOCO1 MODERATE|MISSENSE|aGg/aAg|R308K|606|CALCOCO1|protein_coding|CODING|ENST00000430117|exon_12_54109577_54109831 0/1:99:181,0,255 . . . 12 54109659 rs3741659 C T NON_SYNONYMOUS_CODING CALCOCO1 MODERATE|MISSENSE|aGg/aAg|R331K|629|CALCOCO1|protein_coding|CODING|ENST00000413257|exon_12_54109577_54109831 0/1:99:181,0,255 . . . 12 54109659 rs3741659 C T NON_SYNONYMOUS_CODING CALCOCO1 MODERATE|MISSENSE|aGg/aAg|R393K|633|CALCOCO1|protein_coding|CODING|ENST00000548263|exon_12_54109577_54109831 0/1:99:181,0,255 . . . 12 54109659 rs3741659 C T NON_SYNONYMOUS_CODING CALCOCO1 MODERATE|MISSENSE|aGg/aAg|R393K|690|CALCOCO1|protein_coding|CODING|ENST00000262059|exon_12_54109577_54109831 0/1:99:181,0,255 . . . 12 54109659 rs3741659 C T NON_SYNONYMOUS_CODING CALCOCO1 MODERATE|MISSENSE|aGg/aAg|R393K|691|CALCOCO1|protein_coding|CODING|ENST00000550804|exon_12_54109577_54109831 0/1:99:181,0,255 . . . 12 54109659 rs3741659 C T NON_SYNONYMOUS_CODING CALCOCO1 MODERATE|MISSENSE|aGg/aAg|R70K|392|CALCOCO1|protein_coding|CODING|ENST00000342760|exon_12_54109577_54109831 0/1:99:181,0,255 . . . 12 54332733 . CTTAT CTTATTAT CODON_CHANGE_PLUS_CODON_INSERTION HOXC13 MODERATE||atg/atTATg|M16IM|330|HOXC13|protein_coding|CODING|ENST00000243056|exon_12_54332535_54333426 0/1:99:179,0,221 . . . 12 55968949 rs61746285 G A NON_SYNONYMOUS_CODING OR2AP1 MODERATE|MISSENSE|Gga/Aga|G251R|309|OR2AP1|protein_coding|CODING|ENST00000321688|exon_12_55968199_55969128 0/1:99:255,0,255 . . . 12 56120555 . AGTTGTT AGTT CODON_DELETION CD63 MODERATE||aac/-|N117-|132|CD63|protein_coding|CODING|ENST00000546457|exon_12_56120511_56120579 . 0/1:99:212,0,255 . . 12 56120555 . AGTTGTT AGTT CODON_DELETION CD63 MODERATE||aac/-|N117-|214|CD63|protein_coding|CODING|ENST00000551173|exon_12_56120484_56120579 . 0/1:99:212,0,255 . . 12 56120555 . AGTTGTT AGTT CODON_DELETION CD63 MODERATE||aac/-|N117-|216|CD63|protein_coding|CODING|ENST00000552164|exon_12_56120484_56120579 . 0/1:99:212,0,255 . . 12 56120555 . AGTTGTT AGTT CODON_DELETION CD63 MODERATE||aac/-|N117-|236|CD63|protein_coding|CODING|ENST00000420846|exon_12_56120484_56120579 . 0/1:99:212,0,255 . . 12 56120555 . AGTTGTT AGTT CODON_DELETION CD63 MODERATE||aac/-|N117-|238|CD63|protein_coding|CODING|ENST00000257857|exon_12_56120484_56120579 . 0/1:99:212,0,255 . . 12 56120555 . AGTTGTT AGTT CODON_DELETION CD63 MODERATE||aac/-|N117-|238|CD63|protein_coding|CODING|ENST00000549117|exon_12_56120484_56120579 . 0/1:99:212,0,255 . . 12 56120555 . AGTTGTT AGTT CODON_DELETION CD63 MODERATE||aac/-|N117-|238|CD63|protein_coding|CODING|ENST00000552692|exon_12_56120484_56120579 . 0/1:99:212,0,255 . . 12 56120555 . AGTTGTT AGTT CODON_DELETION CD63 MODERATE||aac/-|N24-|145|CD63|protein_coding|CODING|ENST00000548160|exon_12_56120484_56120579 . 0/1:99:212,0,255 . . 12 56120555 . AGTTGTT AGTT CODON_DELETION CD63 MODERATE||aac/-|N24-|145|CD63|protein_coding|CODING|ENST00000548898|exon_12_56120484_56120579 . 0/1:99:212,0,255 . . 12 56120555 . AGTTGTT AGTT CODON_DELETION CD63 MODERATE||aac/-|N24-|145|CD63|protein_coding|CODING|ENST00000552067|exon_12_56120484_56120579 . 0/1:99:212,0,255 . . 12 56120555 . AGTTGTT AGTT CODON_DELETION CD63 MODERATE||aac/-|N35-|156|CD63|protein_coding|CODING|ENST00000546939|exon_12_56120484_56120579 . 0/1:99:212,0,255 . . 12 56120555 . AGTTGTT AGTT CODON_DELETION CD63 MODERATE||aac/-|N35-|156|CD63|protein_coding|CODING|ENST00000550776|exon_12_56120484_56120579 . 0/1:99:212,0,255 . . 12 56120555 . AGTTGTT AGTT CODON_DELETION CD63 MODERATE||aac/-|N94-|215|CD63|protein_coding|CODING|ENST00000552754|exon_12_56120484_56120579 . 0/1:99:212,0,255 . . 12 56351128 rs2071024 G T NON_SYNONYMOUS_CODING PMEL MODERATE|MISSENSE|cCt/cAt|P171H|295|PMEL|protein_coding|CODING|ENST00000548803|exon_12_56350970_56351170 0/1:99:209,0,255 . . . 12 56351128 rs2071024 G T NON_SYNONYMOUS_CODING PMEL MODERATE|MISSENSE|cCt/cAt|P234H|575|PMEL|protein_coding|CODING|ENST00000539511|exon_12_56350733_56351455 0/1:99:209,0,255 . . . 12 56351128 rs2071024 G T NON_SYNONYMOUS_CODING PMEL MODERATE|MISSENSE|cCt/cAt|P234H|575|PMEL|protein_coding|CODING|ENST00000550464|exon_12_56350733_56351455 0/1:99:209,0,255 . . . 12 56351128 rs2071024 G T NON_SYNONYMOUS_CODING PMEL MODERATE|MISSENSE|cCt/cAt|P266H|343|PMEL|protein_coding|CODING|ENST00000547137|exon_12_56350893_56351455 0/1:99:209,0,255 . . . 12 56351128 rs2071024 G T NON_SYNONYMOUS_CODING PMEL MODERATE|MISSENSE|cCt/cAt|P271H|298|PMEL|protein_coding|CODING|ENST00000546543|exon_12_56351043_56351455 0/1:99:209,0,255 . . . 12 56351128 rs2071024 G T NON_SYNONYMOUS_CODING PMEL MODERATE|MISSENSE|cCt/cAt|P320H|626|PMEL|protein_coding|CODING|ENST00000536427|exon_12_56350970_56351455 0/1:99:209,0,255 . . . 12 56351128 rs2071024 G T NON_SYNONYMOUS_CODING PMEL MODERATE|MISSENSE|cCt/cAt|P320H|661|PMEL|protein_coding|CODING|ENST00000548493|exon_12_56350733_56351455 0/1:99:209,0,255 . . . 12 56351128 rs2071024 G T NON_SYNONYMOUS_CODING PMEL MODERATE|MISSENSE|cCt/cAt|P320H|661|PMEL|protein_coding|CODING|ENST00000548747|exon_12_56350733_56351455 0/1:99:209,0,255 . . . 12 56351128 rs2071024 G T NON_SYNONYMOUS_CODING PMEL MODERATE|MISSENSE|cCt/cAt|P320H|661|PMEL|protein_coding|CODING|ENST00000552882|exon_12_56350733_56351455 0/1:99:209,0,255 . . . 12 56351128 rs2071024 G T NON_SYNONYMOUS_CODING PMEL MODERATE|MISSENSE|cCt/cAt|P320H|668|PMEL|protein_coding|CODING|ENST00000360714|exon_12_56350733_56351455 0/1:99:209,0,255 . . . 12 56351128 rs2071024 G T NON_SYNONYMOUS_CODING PMEL MODERATE|MISSENSE|cCt/cAt|P320H|668|PMEL|protein_coding|CODING|ENST00000449260|exon_12_56350733_56351455 0/1:99:209,0,255 . . . 12 56397915 . G C NON_SYNONYMOUS_CODING SUOX MODERATE|MISSENSE|Gat/Cat|D248H|545|SUOX|protein_coding|CODING|ENST00000266971|exon_12_56397402_56399309 0/1:99:97,0,255 . . . 12 56397915 . G C NON_SYNONYMOUS_CODING SUOX MODERATE|MISSENSE|Gat/Cat|D248H|545|SUOX|protein_coding|CODING|ENST00000356124|exon_12_56397402_56399309 0/1:99:97,0,255 . . . 12 56397915 . G C NON_SYNONYMOUS_CODING SUOX MODERATE|MISSENSE|Gat/Cat|D248H|545|SUOX|protein_coding|CODING|ENST00000394109|exon_12_56397402_56399309 0/1:99:97,0,255 . . . 12 56397915 . G C NON_SYNONYMOUS_CODING SUOX MODERATE|MISSENSE|Gat/Cat|D248H|545|SUOX|protein_coding|CODING|ENST00000394115|exon_12_56397402_56399270 0/1:99:97,0,255 . . . 12 56397915 . G C NON_SYNONYMOUS_CODING SUOX MODERATE|MISSENSE|Gat/Cat|D248H|545|SUOX|protein_coding|CODING|ENST00000548274|exon_12_56397402_56399309 0/1:99:97,0,255 . . . 12 56398707 . G A NON_SYNONYMOUS_CODING SUOX MODERATE|MISSENSE|Gat/Aat|D512N|545|SUOX|protein_coding|CODING|ENST00000266971|exon_12_56397402_56399309 0/1:99:255,0,198 . . . 12 56398707 . G A NON_SYNONYMOUS_CODING SUOX MODERATE|MISSENSE|Gat/Aat|D512N|545|SUOX|protein_coding|CODING|ENST00000356124|exon_12_56397402_56399309 0/1:99:255,0,198 . . . 12 56398707 . G A NON_SYNONYMOUS_CODING SUOX MODERATE|MISSENSE|Gat/Aat|D512N|545|SUOX|protein_coding|CODING|ENST00000394109|exon_12_56397402_56399309 0/1:99:255,0,198 . . . 12 56398707 . G A NON_SYNONYMOUS_CODING SUOX MODERATE|MISSENSE|Gat/Aat|D512N|545|SUOX|protein_coding|CODING|ENST00000394115|exon_12_56397402_56399270 0/1:99:255,0,198 . . . 12 56398707 . G A NON_SYNONYMOUS_CODING SUOX MODERATE|MISSENSE|Gat/Aat|D512N|545|SUOX|protein_coding|CODING|ENST00000548274|exon_12_56397402_56399309 0/1:99:255,0,198 . . . 12 56661676 . C T NON_SYNONYMOUS_CODING COQ10A MODERATE|MISSENSE|gCt/gTt|A46V|215|COQ10A|protein_coding|CODING|ENST00000433805|exon_12_56661578_56661724 0/1:99:188,0,255 . . . 12 56661676 . C T NON_SYNONYMOUS_CODING COQ10A MODERATE|MISSENSE|gCt/gTt|A61V|230|COQ10A|protein_coding|CODING|ENST00000546544|exon_12_56661466_56661724 0/1:99:188,0,255 . . . 12 56661676 . C T NON_SYNONYMOUS_CODING COQ10A MODERATE|MISSENSE|gCt/gTt|A78V|247|COQ10A|protein_coding|CODING|ENST00000308197|exon_12_56661578_56661724 0/1:99:188,0,255 . . . 12 57111949 rs61032015 T G NON_SYNONYMOUS_CODING NACA MODERATE|MISSENSE|cAc/cCc|H1122P|2078|NACA|protein_coding|CODING|ENST00000454682|exon_12_57109655_57115243 . 1/1:10:62,6,0 1/1:10:69,6,0 . 12 57397876 rs117805856 A G NON_SYNONYMOUS_CODING ZBTB39 MODERATE|MISSENSE|Tgt/Cgt|C276R|712|ZBTB39|protein_coding|CODING|ENST00000300101|exon_12_57392618_57398745 . 0/1:99:255,0,190 . . 12 57911182 . G C NON_SYNONYMOUS_CODING DDIT3 MODERATE|MISSENSE|gCt/gGt|A26G|144|DDIT3|protein_coding|CODING|ENST00000547526|exon_12_57911052_57911325 . 0/1:99:255,0,255 . . 12 57911182 . G C NON_SYNONYMOUS_CODING DDIT3 MODERATE|MISSENSE|gCt/gGt|A26G|192|DDIT3|protein_coding|CODING|ENST00000551116|exon_12_57911052_57911378 . 0/1:99:255,0,255 . . 12 57911182 . G C NON_SYNONYMOUS_CODING DDIT3 MODERATE|MISSENSE|gCt/gGt|A26G|192|DDIT3|protein_coding|CODING|ENST00000552740|exon_12_57911052_57911536 . 0/1:99:255,0,255 . . 12 57911182 . G C NON_SYNONYMOUS_CODING DDIT3 MODERATE|MISSENSE|gCt/gGt|A3G|169|DDIT3|protein_coding|CODING|ENST00000346473|exon_12_57911052_57911221 . 0/1:99:255,0,255 . . 12 57911182 . G C NON_SYNONYMOUS_CODING DDIT3 MODERATE|MISSENSE|gCt/gGt|A3G|169|DDIT3|protein_coding|CODING|ENST00000547303|exon_12_57911052_57911207 . 0/1:99:255,0,255 . . 12 57994679 rs2277319 C G NON_SYNONYMOUS_CODING PIP4K2C MODERATE|MISSENSE|gCg/gGg|A252G|373|PIP4K2C|protein_coding|CODING|ENST00000422156|exon_12_57994594_57994861 . 0/1:99:255,0,216 . . 12 57994679 rs2277319 C G NON_SYNONYMOUS_CODING PIP4K2C MODERATE|MISSENSE|gCg/gGg|A282G|403|PIP4K2C|protein_coding|CODING|ENST00000550465|exon_12_57994594_57994861 . 0/1:99:255,0,216 . . 12 57994679 rs2277319 C G NON_SYNONYMOUS_CODING PIP4K2C MODERATE|MISSENSE|gCg/gGg|A300G|421|PIP4K2C|protein_coding|CODING|ENST00000354947|exon_12_57994594_57994861 . 0/1:99:255,0,216 . . 12 57994679 rs2277319 C G NON_SYNONYMOUS_CODING PIP4K2C MODERATE|MISSENSE|gCg/gGg|A300G|421|PIP4K2C|protein_coding|CODING|ENST00000540759|exon_12_57994594_57994861 . 0/1:99:255,0,216 . . 12 58018709 rs141552765 C T NON_SYNONYMOUS_CODING SLC26A10 MODERATE|MISSENSE|Cgt/Tgt|R430C|563|SLC26A10|protein_coding|CODING|ENST00000320442|exon_12_58018649_58018765 . . 0/1:99:229,0,203 . 12 58174368 rs141172155 G A NON_SYNONYMOUS_CODING METTL21B MODERATE|MISSENSE|cGg/cAg|R207Q|226|METTL21B|protein_coding|CODING|ENST00000300209|exon_12_58174038_58176186 . 0/1:99:251,0,255 . . 12 58174368 rs141172155 G A NON_SYNONYMOUS_CODING METTL21B MODERATE|MISSENSE|cGg/cAg|R26Q|45|METTL21B|protein_coding|CODING|ENST00000551420|exon_12_58174038_58174563 . 0/1:99:251,0,255 . . 12 62798007 rs201239312 A G NON_SYNONYMOUS_CODING USP15 MODERATE|MISSENSE|cAa/cGa|Q904R|952|USP15|protein_coding|CODING|ENST00000353364|exon_12_62797973_62799899 . . 0/1:99:233,0,255 . 12 62798007 rs201239312 A G NON_SYNONYMOUS_CODING USP15 MODERATE|MISSENSE|cAa/cGa|Q908R|956|USP15|protein_coding|CODING|ENST00000393654|exon_12_62797973_62799898 . . 0/1:99:233,0,255 . 12 62798007 rs201239312 A G NON_SYNONYMOUS_CODING USP15 MODERATE|MISSENSE|cAa/cGa|Q933R|981|USP15|protein_coding|CODING|ENST00000280377|exon_12_62797973_62799899 . . 0/1:99:233,0,255 . 12 62959137 rs11174549 A G NON_SYNONYMOUS_CODING MON2 MODERATE|MISSENSE|Att/Gtt|I1362V|1688|MON2|protein_coding|CODING|ENST00000552738|exon_12_62959017_62959160 . 0/1:99:255,0,255 . . 12 62959137 rs11174549 A G NON_SYNONYMOUS_CODING MON2 MODERATE|MISSENSE|Att/Gtt|I1385V|1675|MON2|protein_coding|CODING|ENST00000546600|exon_12_62959017_62959160 . 0/1:99:255,0,255 . . 12 62959137 rs11174549 A G NON_SYNONYMOUS_CODING MON2 MODERATE|MISSENSE|Att/Gtt|I1385V|1711|MON2|protein_coding|CODING|ENST00000393629|exon_12_62959017_62959160 . 0/1:99:255,0,255 . . 12 62959137 rs11174549 A G NON_SYNONYMOUS_CODING MON2 MODERATE|MISSENSE|Att/Gtt|I1385V|1717|MON2|protein_coding|CODING|ENST00000393632|exon_12_62959017_62959160 . 0/1:99:255,0,255 . . 12 62959137 rs11174549 A G NON_SYNONYMOUS_CODING MON2 MODERATE|MISSENSE|Att/Gtt|I1386V|1676|MON2|protein_coding|CODING|ENST00000280379|exon_12_62959017_62959160 . 0/1:99:255,0,255 . . 12 62959137 rs11174549 A G NON_SYNONYMOUS_CODING MON2 MODERATE|MISSENSE|Att/Gtt|I1386V|1718|MON2|protein_coding|CODING|ENST00000393630|exon_12_62959017_62959160 . 0/1:99:255,0,255 . . 12 64173807 rs61935924 G A NON_SYNONYMOUS_CODING TMEM5 MODERATE|MISSENSE|Gct/Act|A23T|443|TMEM5|protein_coding|CODING|ENST00000261234|exon_12_64173583_64173909 . . . 0/1:99:147,0,191 12 65174698 rs140476424 C T NON_SYNONYMOUS_CODING TBC1D30 MODERATE|MISSENSE|cCt/cTt|P37L|924|TBC1D30|protein_coding|CODING|ENST00000229088|exon_12_65174589_65175066 0/1:99:133,0,135 . . . 12 67706476 rs140637003 C T NON_SYNONYMOUS_CODING CAND1 MODERATE|MISSENSE|Cca/Tca|P1187S|1230|CAND1|protein_coding|CODING|ENST00000299218|exon_12_67706386_67706754 . . 0/1:99:195,0,255 . 12 67706476 rs140637003 C T NON_SYNONYMOUS_CODING CAND1 MODERATE|MISSENSE|Cca/Tca|P1187S|1230|CAND1|protein_coding|CODING|ENST00000545606|exon_12_67706386_67713731 . . 0/1:99:195,0,255 . 12 67706476 rs140637003 C T NON_SYNONYMOUS_CODING CAND1 MODERATE|MISSENSE|Cca/Tca|P727S|770|CAND1|protein_coding|CODING|ENST00000544619|exon_12_67706386_67708388 . . 0/1:99:195,0,255 . 12 68051571 rs56293072 A G NON_SYNONYMOUS_CODING DYRK2 MODERATE|MISSENSE|aAc/aGc|N222S|528|DYRK2|protein_coding|CODING|ENST00000393555|exon_12_68050886_68052689 . . . 0/1:99:202,0,255 12 68051571 rs56293072 A G NON_SYNONYMOUS_CODING DYRK2 MODERATE|MISSENSE|aAc/aGc|N295S|601|DYRK2|protein_coding|CODING|ENST00000344096|exon_12_68050886_68059186 . . . 0/1:99:202,0,255 12 70330260 rs61754226 C T NON_SYNONYMOUS_CODING C12orf28 MODERATE|MISSENSE|cCg/cTg|P395L|614|C12orf28|protein_coding|CODING|ENST00000552032|exon_12_70330233_70330412 . . . 0/1:99:255,0,255 12 70330260 rs61754226 C T NON_SYNONYMOUS_CODING C12orf28 MODERATE|MISSENSE|cCg/cTg|P56L|250|C12orf28|protein_coding|CODING|ENST00000535034|exon_12_70330233_70330412 . . . 0/1:99:255,0,255 12 70330260 rs61754226 C T NON_SYNONYMOUS_CODING C12orf28 MODERATE|MISSENSE|cCg/cTg|P56L|275|C12orf28|protein_coding|CODING|ENST00000299350|exon_12_70330233_70330412 . . . 0/1:99:255,0,255 12 71016340 rs7298147 C T NON_SYNONYMOUS_CODING PTPRB MODERATE|MISSENSE|Ggc/Agc|G179S|1583|PTPRB|protein_coding|CODING|ENST00000551525|exon_12_71016170_71016426 . 0/1:99:231,0,255 . . 12 71016340 rs7298147 C T NON_SYNONYMOUS_CODING PTPRB MODERATE|MISSENSE|Ggc/Agc|G180S|2127|PTPRB|protein_coding|CODING|ENST00000550358|exon_12_71016170_71016426 . 0/1:99:231,0,255 . . 12 71016340 rs7298147 C T NON_SYNONYMOUS_CODING PTPRB MODERATE|MISSENSE|Ggc/Agc|G180S|2215|PTPRB|protein_coding|CODING|ENST00000334414|exon_12_71016170_71016426 . 0/1:99:231,0,255 . . 12 71016340 rs7298147 C T NON_SYNONYMOUS_CODING PTPRB MODERATE|MISSENSE|Ggc/Agc|G180S|919|PTPRB|protein_coding|CODING|ENST00000544694|exon_12_71016170_71016426 . 0/1:99:231,0,255 . . 12 71158453 rs144705265 G A NON_SYNONYMOUS_CODING PTPRR MODERATE|MISSENSE|Cgc/Tgc|R155C|657|PTPRR|protein_coding|CODING|ENST00000283228|exon_12_71158445_71158558 . . 0/1:99:255,0,255 . 12 71158453 rs144705265 G A NON_SYNONYMOUS_CODING PTPRR MODERATE|MISSENSE|Cgc/Tgc|R43C|545|PTPRR|protein_coding|CODING|ENST00000342084|exon_12_71158445_71158558 . . 0/1:99:255,0,255 . 12 72028544 rs192652541 G A NON_SYNONYMOUS_CODING ZFC3H1 MODERATE|MISSENSE|cCg/cTg|P767L|1989|ZFC3H1|protein_coding|CODING|ENST00000378743|exon_12_72028484_72028605 . . . 0/1:99:249,0,231 12 75884254 rs28932170 C T NON_SYNONYMOUS_CODING GLIPR1 MODERATE|MISSENSE|aCg/aTg|T187M|237|GLIPR1|protein_coding|CODING|ENST00000456650|exon_12_75884186_75884298 . 0/1:99:226,0,203 . . 12 75884254 rs28932170 C T NON_SYNONYMOUS_CODING GLIPR1 MODERATE|MISSENSE|aCg/aTg|T46M|88|GLIPR1|protein_coding|CODING|ENST00000550491|exon_12_75884186_75884298 . 0/1:99:226,0,203 . . 12 75900382 rs11540407 C T NON_SYNONYMOUS_CODING KRR1 MODERATE|MISSENSE|cGa/cAa|R134Q|324|KRR1|protein_coding|CODING|ENST00000438169|exon_12_75900264_75900389 . 0/1:99:177,0,253 . . 12 75900382 rs11540407 C T NON_SYNONYMOUS_CODING KRR1 MODERATE|MISSENSE|cGa/cAa|R134Q|381|KRR1|protein_coding|CODING|ENST00000229214|exon_12_75900264_75900389 . 0/1:99:177,0,253 . . 12 77235768 rs33996476 A G NON_SYNONYMOUS_CODING ZDHHC17 MODERATE|MISSENSE|aAc/aGc|N383S|632|ZDHHC17|protein_coding|CODING|ENST00000334822|exon_12_77235764_77235886 . 0/1:99:255,0,255 0/1:99:255,0,161 0/1:99:255,0,255 12 77235768 rs33996476 A G NON_SYNONYMOUS_CODING ZDHHC17 MODERATE|MISSENSE|aAc/aGc|N383S|632|ZDHHC17|protein_coding|CODING|ENST00000426126|exon_12_77235762_77235886 . 0/1:99:255,0,255 0/1:99:255,0,161 0/1:99:255,0,255 12 77419341 rs310831 A T NON_SYNONYMOUS_CODING E2F7 MODERATE|MISSENSE|caT/caA|H325Q|382|E2F7|protein_coding|CODING|ENST00000339887|exon_12_77419338_77419537 . 0/1:99:185,0,255 . 0/1:99:255,0,226 12 77419341 rs310831 A T NON_SYNONYMOUS_CODING E2F7 MODERATE|MISSENSE|caT/caA|H854Q|911|E2F7|protein_coding|CODING|ENST00000322886|exon_12_77419338_77419762 . 0/1:99:185,0,255 . 0/1:99:255,0,226 12 77458409 rs61744271 C A NON_SYNONYMOUS_CODING E2F7 MODERATE|MISSENSE|Gta/Tta|V3L|114|E2F7|protein_coding|CODING|ENST00000547316|exon_12_77458323_77458433 . . 0/1:99:255,0,255 . 12 77458409 rs61744271 C A NON_SYNONYMOUS_CODING E2F7 MODERATE|MISSENSE|Gta/Tta|V3L|692|E2F7|protein_coding|CODING|ENST00000550669|exon_12_77458323_77458415 . . 0/1:99:255,0,255 . 12 77458409 rs61744271 C A NON_SYNONYMOUS_CODING E2F7 MODERATE|MISSENSE|Gta/Tta|V3L|728|E2F7|protein_coding|CODING|ENST00000416496|exon_12_77458323_77458415 . . 0/1:99:255,0,255 . 12 77458409 rs61744271 C A NON_SYNONYMOUS_CODING E2F7 MODERATE|MISSENSE|Gta/Tta|V3L|911|E2F7|protein_coding|CODING|ENST00000322886|exon_12_77458323_77458415 . . 0/1:99:255,0,255 . 12 79842893 rs61756211 G A NON_SYNONYMOUS_CODING SYT1 MODERATE|MISSENSE|Gtc/Atc|V417I|419|SYT1|protein_coding|CODING|ENST00000457153|exon_12_79842698_79845788 . . 0/1:99:255,0,255 . 12 79842893 rs61756211 G A NON_SYNONYMOUS_CODING SYT1 MODERATE|MISSENSE|Gtc/Atc|V420I|422|SYT1|protein_coding|CODING|ENST00000261205|exon_12_79842698_79845786 . . 0/1:99:255,0,255 . 12 79842893 rs61756211 G A NON_SYNONYMOUS_CODING SYT1 MODERATE|MISSENSE|Gtc/Atc|V420I|422|SYT1|protein_coding|CODING|ENST00000393240|exon_12_79842698_79844059 . . 0/1:99:255,0,255 . 12 79842893 rs61756211 G A NON_SYNONYMOUS_CODING SYT1 MODERATE|MISSENSE|Gtc/Atc|V420I|422|SYT1|protein_coding|CODING|ENST00000552744|exon_12_79842698_79844074 . . 0/1:99:255,0,255 . 12 80083792 rs8176805 G C NON_SYNONYMOUS_CODING PAWR MODERATE|MISSENSE|cCg/cGg|P78R|340|PAWR|protein_coding|CODING|ENST00000328827|exon_12_80083509_80084171 0/1:99:190,0,135 . 0/1:99:118,0,178 . 12 80632730 rs200050988 C T NON_SYNONYMOUS_CODING OTOGL MODERATE|MISSENSE|cCg/cTg|P297L|2332|OTOGL|protein_coding|CODING|ENST00000547103|exon_12_80632631_80632758 . . 0/1:99:255,0,149 . 12 80632730 rs200050988 C T NON_SYNONYMOUS_CODING OTOGL MODERATE|MISSENSE|cCg/cTg|P297L|2344|OTOGL|protein_coding|CODING|ENST00000458043|exon_12_80632631_80632758 . . 0/1:99:255,0,149 . 12 80699475 rs10862089 G T NON_SYNONYMOUS_CODING OTOGL MODERATE|MISSENSE|caG/caT|Q1102H|2332|OTOGL|protein_coding|CODING|ENST00000547103|exon_12_80699356_80699475 . 0/1:99:255,0,255 . . 12 80699475 rs10862089 G T NON_SYNONYMOUS_CODING OTOGL MODERATE|MISSENSE|caG/caT|Q1102H|2344|OTOGL|protein_coding|CODING|ENST00000458043|exon_12_80699356_80699475 . 0/1:99:255,0,255 . . 12 80714435 . G A NON_SYNONYMOUS_CODING OTOGL MODERATE|MISSENSE|Gat/Aat|D1337N|2332|OTOGL|protein_coding|CODING|ENST00000547103|exon_12_80714202_80714480 . . . 0/1:99:255,0,255 12 80714435 . G A NON_SYNONYMOUS_CODING OTOGL MODERATE|MISSENSE|Gat/Aat|D1337N|2344|OTOGL|protein_coding|CODING|ENST00000458043|exon_12_80714202_80714480 . . . 0/1:99:255,0,255 12 80747209 rs7312569 C G NON_SYNONYMOUS_CODING OTOGL MODERATE|MISSENSE|Cta/Gta|L1817V|2332|OTOGL|protein_coding|CODING|ENST00000547103|exon_12_80747105_80747290 0/1:99:255,0,255 1/1:99:255,120,0 . . 12 80747209 rs7312569 C G NON_SYNONYMOUS_CODING OTOGL MODERATE|MISSENSE|Cta/Gta|L1829V|2344|OTOGL|protein_coding|CODING|ENST00000458043|exon_12_80747105_80747290 0/1:99:255,0,255 1/1:99:255,120,0 . . 12 80750659 rs11836060 G A NON_SYNONYMOUS_CODING OTOGL MODERATE|MISSENSE|cGa/cAa|R1974Q|2332|OTOGL|protein_coding|CODING|ENST00000547103|exon_12_80750587_80750694 0/1:99:255,0,255 1/1:99:255,96,0 . . 12 80750659 rs11836060 G A NON_SYNONYMOUS_CODING OTOGL MODERATE|MISSENSE|cGa/cAa|R1986Q|2344|OTOGL|protein_coding|CODING|ENST00000458043|exon_12_80750587_80750694 0/1:99:255,0,255 1/1:99:255,96,0 . . 12 80750659 rs11836060 G A NON_SYNONYMOUS_CODING OTOGL MODERATE|MISSENSE|cGa/cAa|R3Q|266|OTOGL|protein_coding|CODING|ENST00000550182|exon_12_80750652_80750694 0/1:99:255,0,255 1/1:99:255,96,0 . . 12 80750659 rs11836060 G A NON_SYNONYMOUS_CODING OTOGL MODERATE|MISSENSE|cGa/cAa|R5Q|363|OTOGL|protein_coding|CODING|ENST00000546620|exon_12_80750587_80750694 0/1:99:255,0,255 1/1:99:255,96,0 . . 12 80761411 rs11114416 G T NON_SYNONYMOUS_CODING OTOGL MODERATE|MISSENSE|ttG/ttT|L142F|266|OTOGL|protein_coding|CODING|ENST00000550182|exon_12_80761341_80761519 0/1:99:255,0,255 1/1:99:255,123,0 . . 12 80761411 rs11114416 G T NON_SYNONYMOUS_CODING OTOGL MODERATE|MISSENSE|ttG/ttT|L144F|363|OTOGL|protein_coding|CODING|ENST00000546620|exon_12_80761341_80761519 0/1:99:255,0,255 1/1:99:255,123,0 . . 12 80761411 rs11114416 G T NON_SYNONYMOUS_CODING OTOGL MODERATE|MISSENSE|ttG/ttT|L2113F|2332|OTOGL|protein_coding|CODING|ENST00000547103|exon_12_80761341_80761519 0/1:99:255,0,255 1/1:99:255,123,0 . . 12 80761411 rs11114416 G T NON_SYNONYMOUS_CODING OTOGL MODERATE|MISSENSE|ttG/ttT|L2125F|2344|OTOGL|protein_coding|CODING|ENST00000458043|exon_12_80761341_80761519 0/1:99:255,0,255 1/1:99:255,123,0 . . 12 80855641 rs189306719 T C NON_SYNONYMOUS_CODING PTPRQ MODERATE|MISSENSE|gTa/gCa|V139A|2295|PTPRQ|protein_coding|CODING|ENST00000266688|exon_12_80855627_80855704 0/1:99:220,0,255 . . . 12 80855825 rs60342585 C T NON_SYNONYMOUS_CODING PTPRQ MODERATE|MISSENSE|cCg/cTg|P181L|2295|PTPRQ|protein_coding|CODING|ENST00000266688|exon_12_80855763_80855833 . . . 0/1:99:158,0,214 12 80856311 . C A NON_SYNONYMOUS_CODING PTPRQ MODERATE|MISSENSE|gCt/gAt|A208D|2295|PTPRQ|protein_coding|CODING|ENST00000266688|exon_12_80856304_80856345 . 1/1:93:93,48,0 . . 12 80936026 rs17713202 A G NON_SYNONYMOUS_CODING PTPRQ MODERATE|MISSENSE|Aat/Gat|N1198D|2295|PTPRQ|protein_coding|CODING|ENST00000266688|exon_12_80935868_80936143 . 0/1:99:255,0,255 . . 12 81528625 rs61745251 C T NON_SYNONYMOUS_CODING ACSS3 MODERATE|MISSENSE|Cat/Tat|H162Y|685|ACSS3|protein_coding|CODING|ENST00000261206|exon_12_81528595_81528783 . . . 0/1:99:255,0,255 12 81528625 rs61745251 C T NON_SYNONYMOUS_CODING ACSS3 MODERATE|MISSENSE|Cat/Tat|H163Y|686|ACSS3|protein_coding|CODING|ENST00000548058|exon_12_81528595_81528783 . . . 0/1:99:255,0,255 12 81528625 rs61745251 C T NON_SYNONYMOUS_CODING ACSS3 MODERATE|MISSENSE|Cat/Tat|H55Y|92|ACSS3|protein_coding|CODING|ENST00000549175|exon_12_81528595_81528742 . . . 0/1:99:255,0,255 12 86198935 rs7397266 C T NON_SYNONYMOUS_CODING RASSF9 MODERATE|MISSENSE|Gct/Act|A285T|435|RASSF9|protein_coding|CODING|ENST00000361228|exon_12_86198331_86199740 . 0/1:99:255,0,255 . 0/1:99:255,0,255 12 88380094 rs10777084 T C NON_SYNONYMOUS_CODING C12orf50 MODERATE|MISSENSE|cAg/cGg|Q267R|375|C12orf50|protein_coding|CODING|ENST00000550553|exon_12_88380089_88380193 0/1:99:255,0,255 . 0/1:99:255,0,255 . 12 88380094 rs10777084 T C NON_SYNONYMOUS_CODING C12orf50 MODERATE|MISSENSE|cAg/cGg|Q306R|414|C12orf50|protein_coding|CODING|ENST00000298699|exon_12_88380089_88380193 0/1:99:255,0,255 . 0/1:99:255,0,255 . 12 88380094 rs10777084 T C NON_SYNONYMOUS_CODING C12orf50 MODERATE|MISSENSE|cAg/cGg|Q321R|395|C12orf50|protein_coding|CODING|ENST00000551944|exon_12_88380089_88380193 0/1:99:255,0,255 . 0/1:99:255,0,255 . 12 88472996 rs61941020 C T NON_SYNONYMOUS_CODING CEP290 MODERATE|MISSENSE|cGg/cAg|R1746Q|2479|CEP290|protein_coding|CODING|ENST00000552810|exon_12_88472869_88473006 0/1:99:220,0,255 . . . 12 88472996 rs61941020 C T NON_SYNONYMOUS_CODING CEP290 MODERATE|MISSENSE|cGg/cAg|R1748Q|2481|CEP290|protein_coding|CODING|ENST00000309041|exon_12_88472869_88473006 0/1:99:220,0,255 . . . 12 88472996 rs61941020 C T NON_SYNONYMOUS_CODING CEP290 MODERATE|MISSENSE|cGg/cAg|R806Q|1539|CEP290|protein_coding|CODING|ENST00000397838|exon_12_88472869_88473006 0/1:99:220,0,255 . . . 12 88472996 rs61941020 C T NON_SYNONYMOUS_CODING CEP290 MODERATE|MISSENSE|cGg/cAg|R806Q|1539|CEP290|protein_coding|CODING|ENST00000547691|exon_12_88472869_88473006 0/1:99:220,0,255 . . . 12 89984882 rs142404163 G T NON_SYNONYMOUS_CODING ATP2B1 MODERATE|MISSENSE|cCc/cAc|P1145H|1184|ATP2B1|protein_coding|CODING|ENST00000348959|exon_12_89981828_89985072 . . . 0/1:99:255,0,186 12 89984882 rs142404163 G T NON_SYNONYMOUS_CODING ATP2B1 MODERATE|MISSENSE|cCc/cAc|P1181H|1220|ATP2B1|protein_coding|CODING|ENST00000261173|exon_12_89981828_89985072 . . . 0/1:99:255,0,186 12 89984882 rs142404163 G T NON_SYNONYMOUS_CODING ATP2B1 MODERATE|MISSENSE|cCc/cAc|P1181H|1220|ATP2B1|protein_coding|CODING|ENST00000428670|exon_12_89981849_89985072 . . . 0/1:99:255,0,186 12 89984882 rs142404163 G T NON_SYNONYMOUS_CODING ATP2B1 MODERATE|MISSENSE|cCc/cAc|P924H|963|ATP2B1|protein_coding|CODING|ENST00000393164|exon_12_89984619_89985072 . . . 0/1:99:255,0,186 12 93100895 rs71456571 T A NON_SYNONYMOUS_CODING C12orf74 MODERATE|MISSENSE|cTa/cAa|L163Q|173|C12orf74|protein_coding|CODING|ENST00000544406|exon_12_93100247_93102325 . . . 0/1:99:255,0,196 12 93100895 rs71456571 T A NON_SYNONYMOUS_CODING C12orf74 MODERATE|MISSENSE|cTa/cAa|L163Q|190|C12orf74|protein_coding|CODING|ENST00000397833|exon_12_93100247_93100914 . . . 0/1:99:255,0,196 12 93251098 rs150091509 C G NON_SYNONYMOUS_CODING EEA1 MODERATE|MISSENSE|Gaa/Caa|E106Q|309|EEA1|protein_coding|CODING|ENST00000540777|exon_12_93251051_93251116 . . 0/1:99:255,0,255 . 12 93251098 rs150091509 C G NON_SYNONYMOUS_CODING EEA1 MODERATE|MISSENSE|Gaa/Caa|E107Q|1411|EEA1|protein_coding|CODING|ENST00000322349|exon_12_93251051_93251116 . . 0/1:99:255,0,255 . 12 94072653 rs52807869 A G NON_SYNONYMOUS_CODING CRADD MODERATE|MISSENSE|Atc/Gtc|I35V|115|CRADD|protein_coding|CODING|ENST00000552033|exon_12_94072545_94072848 . . 0/1:99:214,0,211 . 12 94072653 rs52807869 A G NON_SYNONYMOUS_CODING CRADD MODERATE|MISSENSE|Atc/Gtc|I35V|121|CRADD|protein_coding|CODING|ENST00000541813|exon_12_94072551_94072848 . . 0/1:99:214,0,211 . 12 94072653 rs52807869 A G NON_SYNONYMOUS_CODING CRADD MODERATE|MISSENSE|Atc/Gtc|I35V|121|CRADD|protein_coding|CODING|ENST00000548483|exon_12_94072545_94072848 . . 0/1:99:214,0,211 . 12 94072653 rs52807869 A G NON_SYNONYMOUS_CODING CRADD MODERATE|MISSENSE|Atc/Gtc|I35V|130|CRADD|protein_coding|CODING|ENST00000552983|exon_12_94072545_94072848 . . 0/1:99:214,0,211 . 12 94072653 rs52807869 A G NON_SYNONYMOUS_CODING CRADD MODERATE|MISSENSE|Atc/Gtc|I35V|199|CRADD|protein_coding|CODING|ENST00000332896|exon_12_94072545_94072848 . . 0/1:99:214,0,211 . 12 94072653 rs52807869 A G NON_SYNONYMOUS_CODING CRADD MODERATE|MISSENSE|Atc/Gtc|I35V|199|CRADD|protein_coding|CODING|ENST00000542893|exon_12_94072545_94072848 . . 0/1:99:214,0,211 . 12 94692478 rs115408156 T A NON_SYNONYMOUS_CODING PLXNC1 MODERATE|MISSENSE|tTt/tAt|F121Y|307|PLXNC1|protein_coding|CODING|ENST00000545312|exon_12_94692408_94692571 . . 0/1:99:255,0,255 . 12 94692478 rs115408156 T A NON_SYNONYMOUS_CODING PLXNC1 MODERATE|MISSENSE|tTt/tAt|F1382Y|1568|PLXNC1|protein_coding|CODING|ENST00000258526|exon_12_94692408_94692571 . . 0/1:99:255,0,255 . 12 94692478 rs115408156 T A NON_SYNONYMOUS_CODING PLXNC1 MODERATE|MISSENSE|tTt/tAt|F429Y|615|PLXNC1|protein_coding|CODING|ENST00000547057|exon_12_94692408_94692571 . . 0/1:99:255,0,255 . 12 94772742 rs2271979 C T NON_SYNONYMOUS_CODING CCDC41 MODERATE|MISSENSE|cGa/cAa|R176Q|568|CCDC41|protein_coding|CODING|ENST00000397807|exon_12_94772567_94772818 0/1:99:255,0,199 1/1:99:255,126,0 . . 12 94772742 rs2271979 C T NON_SYNONYMOUS_CODING CCDC41 MODERATE|MISSENSE|cGa/cAa|R209Q|352|CCDC41|protein_coding|CODING|ENST00000547575|exon_12_94772567_94772818 0/1:99:255,0,199 1/1:99:255,126,0 . . 12 94772742 rs2271979 C T NON_SYNONYMOUS_CODING CCDC41 MODERATE|MISSENSE|cGa/cAa|R209Q|701|CCDC41|protein_coding|CODING|ENST00000339839|exon_12_94772567_94772818 0/1:99:255,0,199 1/1:99:255,126,0 . . 12 94772742 rs2271979 C T NON_SYNONYMOUS_CODING CCDC41 MODERATE|MISSENSE|cGa/cAa|R209Q|701|CCDC41|protein_coding|CODING|ENST00000397809|exon_12_94772567_94772818 0/1:99:255,0,199 1/1:99:255,126,0 . . 12 95603415 . G A NON_SYNONYMOUS_CODING FGD6 MODERATE|MISSENSE|Cgt/Tgt|R549C|1205|FGD6|protein_coding|CODING|ENST00000549499|exon_12_95602619_95605043 0/1:99:255,0,242 . . . 12 95603415 . G A NON_SYNONYMOUS_CODING FGD6 MODERATE|MISSENSE|Cgt/Tgt|R549C|1374|FGD6|protein_coding|CODING|ENST00000546711|exon_12_95602619_95605043 0/1:99:255,0,242 . . . 12 95603415 . G A NON_SYNONYMOUS_CODING FGD6 MODERATE|MISSENSE|Cgt/Tgt|R549C|1430|FGD6|protein_coding|CODING|ENST00000343958|exon_12_95602619_95605043 0/1:99:255,0,242 . . . 12 95660182 rs17855933 A G NON_SYNONYMOUS_CODING VEZT MODERATE|MISSENSE|Act/Gct|T114A|722|VEZT|protein_coding|CODING|ENST00000397792|exon_12_95660133_95660408 . . 0/1:99:255,0,255 . 12 95660182 rs17855933 A G NON_SYNONYMOUS_CODING VEZT MODERATE|MISSENSE|Act/Gct|T114A|731|VEZT|protein_coding|CODING|ENST00000261219|exon_12_95660133_95660408 . . 0/1:99:255,0,255 . 12 95660182 rs17855933 A G NON_SYNONYMOUS_CODING VEZT MODERATE|MISSENSE|Act/Gct|T132A|158|VEZT|protein_coding|CODING|ENST00000549002|exon_12_95660133_95660265 . . 0/1:99:255,0,255 . 12 95660182 rs17855933 A G NON_SYNONYMOUS_CODING VEZT MODERATE|MISSENSE|Act/Gct|T162A|779|VEZT|protein_coding|CODING|ENST00000397796|exon_12_95660133_95660408 . . 0/1:99:255,0,255 . 12 95660182 rs17855933 A G NON_SYNONYMOUS_CODING VEZT MODERATE|MISSENSE|Act/Gct|T162A|779|VEZT|protein_coding|CODING|ENST00000436874|exon_12_95660133_95660408 . . 0/1:99:255,0,255 . 12 95660182 rs17855933 A G NON_SYNONYMOUS_CODING VEZT MODERATE|MISSENSE|Act/Gct|T181A|188|VEZT|protein_coding|CODING|ENST00000551472|exon_12_95660133_95660208 . . 0/1:99:255,0,255 . 12 95660182 rs17855933 A G NON_SYNONYMOUS_CODING VEZT MODERATE|MISSENSE|Act/Gct|T84A|97|VEZT|protein_coding|CODING|ENST00000546445|exon_12_95660133_95660228 . . 0/1:99:255,0,255 . 12 95694111 rs17855934 T G NON_SYNONYMOUS_CODING VEZT MODERATE|MISSENSE|Tct/Gct|S620A|731|VEZT|protein_coding|CODING|ENST00000261219|exon_12_95693941_95694944 . . 0/1:99:255,0,255 . 12 95694111 rs17855934 T G NON_SYNONYMOUS_CODING VEZT MODERATE|MISSENSE|Tct/Gct|S624A|722|VEZT|protein_coding|CODING|ENST00000397792|exon_12_95693941_95694410 . . 0/1:99:255,0,255 . 12 95694111 rs17855934 T G NON_SYNONYMOUS_CODING VEZT MODERATE|MISSENSE|Tct/Gct|S668A|779|VEZT|protein_coding|CODING|ENST00000397796|exon_12_95693941_95694944 . . 0/1:99:255,0,255 . 12 95694111 rs17855934 T G NON_SYNONYMOUS_CODING VEZT MODERATE|MISSENSE|Tct/Gct|S668A|779|VEZT|protein_coding|CODING|ENST00000436874|exon_12_95693941_95696566 . . 0/1:99:255,0,255 . 12 95774672 rs112647662 C G NON_SYNONYMOUS_CODING RP11-167N24.6.1 MODERATE|MISSENSE|Gtc/Ctc|V1L|64|RP11-167N24.6.1|protein_coding|CODING|ENST00000549961|exon_12_95774634_95774672 . 0/1:99:255,0,255 . . 12 97045481 rs74447642 C T NON_SYNONYMOUS_CODING C12orf63 MODERATE|MISSENSE|aCa/aTa|T1663I|3096|C12orf63|protein_coding|CODING|ENST00000524981|exon_12_97045366_97045593 0/1:99:255,0,243 . 0/1:99:255,0,255 0/1:99:151,0,255 12 97045481 rs74447642 C T NON_SYNONYMOUS_CODING C12orf63 MODERATE|MISSENSE|aCa/aTa|T88I|1197|C12orf63|protein_coding|CODING|ENST00000342887|exon_12_97045366_97045593 0/1:99:255,0,243 . 0/1:99:255,0,255 0/1:99:151,0,255 12 98927830 rs17459334 C G NON_SYNONYMOUS_CODING TMPO MODERATE|MISSENSE|Caa/Gaa|Q599E|694|TMPO|protein_coding|CODING|ENST00000266732|exon_12_98926601_98929412 . . . 0/1:99:255,0,255 12 100708367 rs33968174 C T NON_SYNONYMOUS_CODING SCYL2 MODERATE|MISSENSE|cCa/cTa|P184L|332|SCYL2|protein_coding|CODING|ENST00000258506|exon_12_100708267_100708392 . 0/1:99:255,0,255 . . 12 100708367 rs33968174 C T NON_SYNONYMOUS_CODING SCYL2 MODERATE|MISSENSE|cCa/cTa|P357L|680|SCYL2|protein_coding|CODING|ENST00000549687|exon_12_100708267_100708392 . 0/1:99:255,0,255 . . 12 100708367 rs33968174 C T NON_SYNONYMOUS_CODING SCYL2 MODERATE|MISSENSE|cCa/cTa|P357L|929|SCYL2|protein_coding|CODING|ENST00000360820|exon_12_100708267_100708392 . 0/1:99:255,0,255 . . 12 101679658 rs78440807 G A NON_SYNONYMOUS_CODING UTP20 MODERATE|MISSENSE|Gat/Aat|D109N|2785|UTP20|protein_coding|CODING|ENST00000261637|exon_12_101679527_101679659 0/1:99:221,0,255 . . . 12 101693534 rs4764643 C G NON_SYNONYMOUS_CODING UTP20 MODERATE|MISSENSE|tCt/tGt|S502C|2785|UTP20|protein_coding|CODING|ENST00000261637|exon_12_101693460_101693615 . 0/1:99:255,0,255 . . 12 101776996 rs1061436 G C NON_SYNONYMOUS_CODING UTP20 MODERATE|MISSENSE|Gag/Cag|E2612Q|2785|UTP20|protein_coding|CODING|ENST00000261637|exon_12_101776819_101777091 . 0/1:99:158,0,255 . . 12 103237484 rs62642937 G A NON_SYNONYMOUS_CODING PAH MODERATE|MISSENSE|aCg/aTg|T375M|447|PAH|protein_coding|CODING|ENST00000307000|exon_12_103237424_103237557 0/1:99:234,0,235 . . . 12 103237484 rs62642937 G A NON_SYNONYMOUS_CODING PAH MODERATE|MISSENSE|aCg/aTg|T380M|452|PAH|protein_coding|CODING|ENST00000553106|exon_12_103237424_103237557 0/1:99:234,0,235 . . . 12 104235308 rs116314589 C G NON_SYNONYMOUS_CODING RP11-650K20.3.1 MODERATE|MISSENSE|cCc/cGc|P14R|58|RP11-650K20.3.1|protein_coding|CODING|ENST00000551650|exon_12_104235229_104235412 0/1:66:118,0,63 0/1:99:176,0,196 . . 12 104684839 rs117295753 G A NON_SYNONYMOUS_CODING TXNRD1 MODERATE|MISSENSE|cGg/cAg|R18Q|138|TXNRD1|protein_coding|CODING|ENST00000531691|exon_12_104684771_104684882 . . 0/1:99:255,0,255 . 12 104684839 rs117295753 G A NON_SYNONYMOUS_CODING TXNRD1 MODERATE|MISSENSE|cGg/cAg|R18Q|541|TXNRD1|protein_coding|CODING|ENST00000397736|exon_12_104684787_104684882 . . 0/1:99:255,0,255 . 12 104684839 rs117295753 G A NON_SYNONYMOUS_CODING TXNRD1 MODERATE|MISSENSE|cGg/cAg|R18Q|543|TXNRD1|protein_coding|CODING|ENST00000526390|exon_12_104684771_104684882 . . 0/1:99:255,0,255 . 12 105425612 . T C NON_SYNONYMOUS_CODING ALDH1L2 MODERATE|MISSENSE|tAc/tGc|Y782C|923|ALDH1L2|protein_coding|CODING|ENST00000258494|exon_12_105425547_105425712 0/1:99:255,0,177 . . . 12 106460912 . A T NON_SYNONYMOUS_CODING NUAK1 MODERATE|MISSENSE|Tca/Aca|S552T|661|NUAK1|protein_coding|CODING|ENST00000261402|exon_12_106457118_106461733 . . . 0/1:99:109,0,255 12 107937768 rs1558781 G A NON_SYNONYMOUS_CODING BTBD11 MODERATE|MISSENSE|Ggc/Agc|G448S|1007|BTBD11|protein_coding|CODING|ENST00000490090|exon_12_107937712_107937916 0/1:99:192,0,242 . . . 12 107937768 rs1558781 G A NON_SYNONYMOUS_CODING BTBD11 MODERATE|MISSENSE|Ggc/Agc|G448S|1104|BTBD11|protein_coding|CODING|ENST00000280758|exon_12_107937712_107937916 0/1:99:192,0,242 . . . 12 107937768 rs1558781 G A NON_SYNONYMOUS_CODING BTBD11 MODERATE|MISSENSE|Ggc/Agc|G448S|985|BTBD11|protein_coding|CODING|ENST00000420571|exon_12_107937712_107937916 0/1:99:192,0,242 . . . 12 107937768 rs1558781 G A NON_SYNONYMOUS_CODING BTBD11 MODERATE|MISSENSE|Ggc/Agc|G79S|221|BTBD11|protein_coding|CODING|ENST00000550706|exon_12_107937712_107937916 0/1:99:192,0,242 . . . 12 107937768 rs1558781 G A NON_SYNONYMOUS_CODING BTBD11 MODERATE|MISSENSE|Ggc/Agc|G82S|236|BTBD11|protein_coding|CODING|ENST00000415943|exon_12_107937712_107937916 0/1:99:192,0,242 . . . 12 108618630 rs3764002 C T NON_SYNONYMOUS_CODING WSCD2 MODERATE|MISSENSE|aCt/aTt|T113I|122|WSCD2|protein_coding|CODING|ENST00000551638|exon_12_108618516_108618637 0/1:99:255,0,189 1/1:99:255,96,0 . 1/1:93:255,48,0 12 108618630 rs3764002 C T NON_SYNONYMOUS_CODING WSCD2 MODERATE|MISSENSE|aCt/aTt|T266I|565|WSCD2|protein_coding|CODING|ENST00000332082|exon_12_108618516_108618637 0/1:99:255,0,189 1/1:99:255,96,0 . 1/1:93:255,48,0 12 108618630 rs3764002 C T NON_SYNONYMOUS_CODING WSCD2 MODERATE|MISSENSE|aCt/aTt|T266I|565|WSCD2|protein_coding|CODING|ENST00000547525|exon_12_108618516_108618637 0/1:99:255,0,189 1/1:99:255,96,0 . 1/1:93:255,48,0 12 108618630 rs3764002 C T NON_SYNONYMOUS_CODING WSCD2 MODERATE|MISSENSE|aCt/aTt|T266I|585|WSCD2|protein_coding|CODING|ENST00000261400|exon_12_108618516_108618637 0/1:99:255,0,189 1/1:99:255,96,0 . 1/1:93:255,48,0 12 108618630 rs3764002 C T NON_SYNONYMOUS_CODING WSCD2 MODERATE|MISSENSE|aCt/aTt|T266I|585|WSCD2|protein_coding|CODING|ENST00000549903|exon_12_108618516_108618637 0/1:99:255,0,189 1/1:99:255,96,0 . 1/1:93:255,48,0 12 108912399 rs77241670 A C NON_SYNONYMOUS_CODING FICD MODERATE|MISSENSE|aAa/aCa|K175T|458|FICD|protein_coding|CODING|ENST00000552695|exon_12_108912177_108914987 . . 0/1:99:255,0,255 . 12 109520769 rs16939904 A G NON_SYNONYMOUS_CODING USP30 MODERATE|MISSENSE|cAc/cGc|H326R|486|USP30|protein_coding|CODING|ENST00000392784|exon_12_109520648_109520867 0/1:99:255,0,240 . . . 12 109520769 rs16939904 A G NON_SYNONYMOUS_CODING USP30 MODERATE|MISSENSE|cAc/cGc|H357R|517|USP30|protein_coding|CODING|ENST00000257548|exon_12_109520648_109520867 0/1:99:255,0,240 . . . 12 109634834 rs17848802 A G NON_SYNONYMOUS_CODING ACACB MODERATE|MISSENSE|Atg/Gtg|M66V|1689|ACACB|protein_coding|CODING|ENST00000390027|exon_12_109634813_109634958 0/1:99:162,0,180 . . . 12 109634834 rs17848802 A G NON_SYNONYMOUS_CODING ACACB MODERATE|MISSENSE|Atg/Gtg|M835V|2388|ACACB|protein_coding|CODING|ENST00000377854|exon_12_109634813_109634958 0/1:99:162,0,180 . . . 12 109634834 rs17848802 A G NON_SYNONYMOUS_CODING ACACB MODERATE|MISSENSE|Atg/Gtg|M835V|2458|ACACB|protein_coding|CODING|ENST00000338432|exon_12_109634813_109634958 0/1:99:162,0,180 . . . 12 109634834 rs17848802 A G NON_SYNONYMOUS_CODING ACACB MODERATE|MISSENSE|Atg/Gtg|M835V|2458|ACACB|protein_coding|CODING|ENST00000377848|exon_12_109634813_109634958 0/1:99:162,0,180 . . . 12 109936056 rs61748069 T C NON_SYNONYMOUS_CODING UBE3B MODERATE|MISSENSE|Tcc/Ccc|S280P|1068|UBE3B|protein_coding|CODING|ENST00000342494|exon_12_109936038_109936158 . 0/1:99:216,0,255 . . 12 109936056 rs61748069 T C NON_SYNONYMOUS_CODING UBE3B MODERATE|MISSENSE|Tcc/Ccc|S280P|1068|UBE3B|protein_coding|CODING|ENST00000434735|exon_12_109936038_109936158 . 0/1:99:216,0,255 . . 12 109936056 rs61748069 T C NON_SYNONYMOUS_CODING UBE3B MODERATE|MISSENSE|Tcc/Ccc|S280P|708|UBE3B|protein_coding|CODING|ENST00000280774|exon_12_109936038_109936158 . 0/1:99:216,0,255 . . 12 109936056 rs61748069 T C NON_SYNONYMOUS_CODING UBE3B MODERATE|MISSENSE|Tcc/Ccc|S280P|870|UBE3B|protein_coding|CODING|ENST00000539599|exon_12_109936038_109936158 . 0/1:99:216,0,255 . . 12 110221524 rs55728855 C T NON_SYNONYMOUS_CODING TRPV4 MODERATE|MISSENSE|Gag/Aag|E733K|764|TRPV4|protein_coding|CODING|ENST00000544971|exon_12_110221426_110221583 . 0/1:99:165,0,202 . . 12 110221524 rs55728855 C T NON_SYNONYMOUS_CODING TRPV4 MODERATE|MISSENSE|Gag/Aag|E780K|811|TRPV4|protein_coding|CODING|ENST00000346520|exon_12_110220893_110221583 . 0/1:99:165,0,202 . . 12 110221524 rs55728855 C T NON_SYNONYMOUS_CODING TRPV4 MODERATE|MISSENSE|Gag/Aag|E780K|811|TRPV4|protein_coding|CODING|ENST00000537083|exon_12_110221426_110221583 . 0/1:99:165,0,202 . . 12 110221524 rs55728855 C T NON_SYNONYMOUS_CODING TRPV4 MODERATE|MISSENSE|Gag/Aag|E793K|824|TRPV4|protein_coding|CODING|ENST00000392719|exon_12_110220893_110221583 . 0/1:99:165,0,202 . . 12 110221524 rs55728855 C T NON_SYNONYMOUS_CODING TRPV4 MODERATE|MISSENSE|Gag/Aag|E793K|824|TRPV4|protein_coding|CODING|ENST00000541794|exon_12_110221426_110221583 . 0/1:99:165,0,202 . . 12 110221524 rs55728855 C T NON_SYNONYMOUS_CODING TRPV4 MODERATE|MISSENSE|Gag/Aag|E806K|837|TRPV4|protein_coding|CODING|ENST00000536838|exon_12_110221426_110221583 . 0/1:99:165,0,202 . . 12 110221524 rs55728855 C T NON_SYNONYMOUS_CODING TRPV4 MODERATE|MISSENSE|Gag/Aag|E840K|871|TRPV4|protein_coding|CODING|ENST00000261740|exon_12_110220892_110221583 . 0/1:99:165,0,202 . . 12 110221524 rs55728855 C T NON_SYNONYMOUS_CODING TRPV4 MODERATE|MISSENSE|Gag/Aag|E840K|871|TRPV4|protein_coding|CODING|ENST00000418703|exon_12_110220890_110221583 . 0/1:99:165,0,202 . . 12 110224548 . G A NON_SYNONYMOUS_CODING TRPV4 MODERATE|MISSENSE|tCg/tTg|S661L|764|TRPV4|protein_coding|CODING|ENST00000544971|exon_12_110224515_110224642 . . 0/1:99:152,0,181 . 12 110224548 . G A NON_SYNONYMOUS_CODING TRPV4 MODERATE|MISSENSE|tCg/tTg|S708L|811|TRPV4|protein_coding|CODING|ENST00000346520|exon_12_110224515_110224642 . . 0/1:99:152,0,181 . 12 110224548 . G A NON_SYNONYMOUS_CODING TRPV4 MODERATE|MISSENSE|tCg/tTg|S708L|811|TRPV4|protein_coding|CODING|ENST00000537083|exon_12_110224515_110224642 . . 0/1:99:152,0,181 . 12 110224548 . G A NON_SYNONYMOUS_CODING TRPV4 MODERATE|MISSENSE|tCg/tTg|S721L|824|TRPV4|protein_coding|CODING|ENST00000392719|exon_12_110224515_110224642 . . 0/1:99:152,0,181 . 12 110224548 . G A NON_SYNONYMOUS_CODING TRPV4 MODERATE|MISSENSE|tCg/tTg|S721L|824|TRPV4|protein_coding|CODING|ENST00000541794|exon_12_110224515_110224642 . . 0/1:99:152,0,181 . 12 110224548 . G A NON_SYNONYMOUS_CODING TRPV4 MODERATE|MISSENSE|tCg/tTg|S734L|837|TRPV4|protein_coding|CODING|ENST00000536838|exon_12_110224515_110224642 . . 0/1:99:152,0,181 . 12 110224548 . G A NON_SYNONYMOUS_CODING TRPV4 MODERATE|MISSENSE|tCg/tTg|S768L|871|TRPV4|protein_coding|CODING|ENST00000261740|exon_12_110224515_110224642 . . 0/1:99:152,0,181 . 12 110224548 . G A NON_SYNONYMOUS_CODING TRPV4 MODERATE|MISSENSE|tCg/tTg|S768L|871|TRPV4|protein_coding|CODING|ENST00000418703|exon_12_110224515_110224642 . . 0/1:99:152,0,181 . 12 111345219 rs116604830 G T NON_SYNONYMOUS_CODING CCDC63 MODERATE|MISSENSE|cGc/cTc|R465L|484|CCDC63|protein_coding|CODING|ENST00000552694|exon_12_111345135_111345339 . . 0/1:18:255,0,15 . 12 111345219 rs116604830 G T NON_SYNONYMOUS_CODING CCDC63 MODERATE|MISSENSE|cGc/cTc|R504L|523|CCDC63|protein_coding|CODING|ENST00000545036|exon_12_111345135_111345338 . . 0/1:18:255,0,15 . 12 111345219 rs116604830 G T NON_SYNONYMOUS_CODING CCDC63 MODERATE|MISSENSE|cGc/cTc|R544L|563|CCDC63|protein_coding|CODING|ENST00000308208|exon_12_111345135_111345339 . . 0/1:18:255,0,15 . 12 111856582 . G T NON_SYNONYMOUS_CODING SH2B3 MODERATE|MISSENSE|atG/atT|M211I|575|SH2B3|protein_coding|CODING|ENST00000341259|exon_12_111855923_111856681 0/1:99:122,0,133 . . . 12 111872722 rs12371484 T C NON_SYNONYMOUS_CODING SH2B3 MODERATE|MISSENSE|cTg/cCg|L6P|373|SH2B3|protein_coding|CODING|ENST00000538307|exon_12_111872666_111872831 . . . 0/1:99:183,0,141 12 111908545 rs140262591 T C NON_SYNONYMOUS_CODING ATXN2 MODERATE|MISSENSE|tAc/tGc|Y980C|995|ATXN2|protein_coding|CODING|ENST00000550104|exon_12_111908362_111908546 . . 0/1:99:255,0,240 . 12 112471090 rs12298022 G T NON_SYNONYMOUS_CODING NAA25 MODERATE|MISSENSE|Cta/Ata|L915I|972|NAA25|protein_coding|CODING|ENST00000261745|exon_12_112471037_112471183 . 0/1:99:255,0,255 0/1:99:231,0,255 . 12 113405825 . G A NON_SYNONYMOUS_CODING OAS3 MODERATE|MISSENSE|Ggg/Agg|G983R|1086|OAS3|protein_coding|CODING|ENST00000323881|exon_12_113405741_113405979 . . 0/1:99:183,0,244 . 12 113405825 . G A NON_SYNONYMOUS_CODING OAS3 MODERATE|MISSENSE|Ggg/Agg|G984R|1087|OAS3|protein_coding|CODING|ENST00000228928|exon_12_113405741_113405979 . . 0/1:99:183,0,244 . 12 113515335 . T G NON_SYNONYMOUS_CODING DTX1 MODERATE|MISSENSE|gaT/gaG|D122E|620|DTX1|protein_coding|CODING|ENST00000257600|exon_12_113515229_113515910 . . . 0/1:53:50,0,155 12 113515832 rs190645916 C A NON_SYNONYMOUS_CODING DTX1 MODERATE|MISSENSE|aCc/aAc|T288N|620|DTX1|protein_coding|CODING|ENST00000257600|exon_12_113515229_113515910 . . . 0/1:69:72,0,67 12 113565933 rs34598602 G A NON_SYNONYMOUS_CODING RASAL1 MODERATE|MISSENSE|aCg/aTg|T58M|776|RASAL1|protein_coding|CODING|ENST00000446861|exon_12_113565870_113565983 . . 0/1:99:159,0,195 . 12 113565933 rs34598602 G A NON_SYNONYMOUS_CODING RASAL1 MODERATE|MISSENSE|aCg/aTg|T58M|804|RASAL1|protein_coding|CODING|ENST00000261729|exon_12_113565870_113565983 . . 0/1:99:159,0,195 . 12 113565933 rs34598602 G A NON_SYNONYMOUS_CODING RASAL1 MODERATE|MISSENSE|aCg/aTg|T58M|805|RASAL1|protein_coding|CODING|ENST00000548055|exon_12_113565870_113565983 . . 0/1:99:159,0,195 . 12 113565933 rs34598602 G A NON_SYNONYMOUS_CODING RASAL1 MODERATE|MISSENSE|aCg/aTg|T58M|806|RASAL1|protein_coding|CODING|ENST00000546530|exon_12_113565870_113565983 . . 0/1:99:159,0,195 . 12 113573237 rs7960087 C G NON_SYNONYMOUS_CODING RASAL1 MODERATE|MISSENSE|Gtg/Ctg|V11L|776|RASAL1|protein_coding|CODING|ENST00000446861|exon_12_113573203_113573555 . . 0/1:99:192,0,160 . 12 113573237 rs7960087 C G NON_SYNONYMOUS_CODING RASAL1 MODERATE|MISSENSE|Gtg/Ctg|V11L|804|RASAL1|protein_coding|CODING|ENST00000261729|exon_12_113573203_113573404 . . 0/1:99:192,0,160 . 12 113573237 rs7960087 C G NON_SYNONYMOUS_CODING RASAL1 MODERATE|MISSENSE|Gtg/Ctg|V11L|805|RASAL1|protein_coding|CODING|ENST00000548055|exon_12_113573203_113573309 . . 0/1:99:192,0,160 . 12 113573237 rs7960087 C G NON_SYNONYMOUS_CODING RASAL1 MODERATE|MISSENSE|Gtg/Ctg|V11L|806|RASAL1|protein_coding|CODING|ENST00000546530|exon_12_113573203_113573404 . . 0/1:99:192,0,160 . 12 113596866 rs1048889 G A NON_SYNONYMOUS_CODING DDX54 MODERATE|MISSENSE|cCg/cTg|P821L|881|DDX54|protein_coding|CODING|ENST00000306014|exon_12_113594979_113596914 . . 0/1:99:253,0,228 . 12 113596866 rs1048889 G A NON_SYNONYMOUS_CODING DDX54 MODERATE|MISSENSE|cCg/cTg|P822L|882|DDX54|protein_coding|CODING|ENST00000314045|exon_12_113594979_113596917 . . 0/1:99:253,0,228 . 12 113600940 rs11564 C T NON_SYNONYMOUS_CODING DDX54 MODERATE|MISSENSE|cGg/cAg|R693Q|881|DDX54|protein_coding|CODING|ENST00000306014|exon_12_113600937_113601079 . . 0/1:99:243,0,152 . 12 113600940 rs11564 C T NON_SYNONYMOUS_CODING DDX54 MODERATE|MISSENSE|cGg/cAg|R693Q|882|DDX54|protein_coding|CODING|ENST00000314045|exon_12_113600937_113601079 . . 0/1:99:243,0,152 . 12 113629471 rs34831139 C A NON_SYNONYMOUS_CODING C12orf52 MODERATE|MISSENSE|Caa/Aaa|Q167K|179|C12orf52|protein_coding|CODING|ENST00000299731|exon_12_113629453_113629512 . . 0/1:99:154,0,191 . 12 113629471 rs34831139 C A NON_SYNONYMOUS_CODING C12orf52 MODERATE|MISSENSE|aCa/aAa|T217K|266|C12orf52|protein_coding|CODING|ENST00000266813|exon_12_113629124_113630169 . . 0/1:99:154,0,191 . 12 113629471 rs34831139 C A NON_SYNONYMOUS_CODING C12orf52 MODERATE|MISSENSE|aCa/aAa|T220K|269|C12orf52|protein_coding|CODING|ENST00000436053|exon_12_113629115_113629958 . . 0/1:99:154,0,191 . 12 113629471 rs34831139 C A NON_SYNONYMOUS_CODING C12orf52 MODERATE|MISSENSE|aCa/aAa|T220K|269|C12orf52|protein_coding|CODING|ENST00000548278|exon_12_113629115_113630173 . . 0/1:99:154,0,191 . 12 113629471 rs34831139 C A NON_SYNONYMOUS_CODING C12orf52 MODERATE|MISSENSE|aCa/aAa|T220K|269|C12orf52|protein_coding|CODING|ENST00000549621|exon_12_113629115_113630169 . . 0/1:99:154,0,191 . 12 113629471 rs34831139 C A NON_SYNONYMOUS_CODING C12orf52 MODERATE|MISSENSE|aCa/aAa|T244K|293|C12orf52|protein_coding|CODING|ENST00000552495|exon_12_113629115_113630166 . . 0/1:99:154,0,191 . 12 113633631 . G A NON_SYNONYMOUS_CODING IQCD MODERATE|MISSENSE|Cgg/Tgg|R265W|347|IQCD|protein_coding|CODING|ENST00000299732|exon_12_113633246_113633694 0/1:78:75,0,255 . . . 12 113633631 . G A NON_SYNONYMOUS_CODING IQCD MODERATE|MISSENSE|Cgg/Tgg|R367W|449|IQCD|protein_coding|CODING|ENST00000416617|exon_12_113633248_113633694 0/1:78:75,0,255 . . . 12 113796430 rs202030136 C A NON_SYNONYMOUS_CODING PLBD2 MODERATE|MISSENSE|Ccc/Acc|P9T|557|PLBD2|protein_coding|CODING|ENST00000545182|exon_12_113796371_113796695 . . 0/1:99:163,0,212 . 12 113796430 rs202030136 C A NON_SYNONYMOUS_CODING PLBD2 MODERATE|MISSENSE|Ccc/Acc|P9T|589|PLBD2|protein_coding|CODING|ENST00000280800|exon_12_113796375_113796695 . . 0/1:99:163,0,212 . 12 113836604 rs141811663 C T NON_SYNONYMOUS_CODING RP11-303O9.2.1 MODERATE|MISSENSE|Gtc/Atc|V175I|234|RP11-303O9.2.1|protein_coding|CODING|ENST00000547342|exon_12_113836512_113836651 . . 0/1:99:146,0,224 . 12 113836604 rs141811663 C T NON_SYNONYMOUS_CODING SDS MODERATE|MISSENSE|Gtc/Atc|V81I|218|SDS|protein_coding|CODING|ENST00000446302|exon_12_113836512_113836651 . . 0/1:99:146,0,224 . 12 113836604 rs141811663 C T NON_SYNONYMOUS_CODING SDS MODERATE|MISSENSE|Gtc/Atc|V81I|328|SDS|protein_coding|CODING|ENST00000257549|exon_12_113836512_113836651 . . 0/1:99:146,0,224 . 12 114374887 rs2290787 T C NON_SYNONYMOUS_CODING RBM19 MODERATE|MISSENSE|Aca/Gca|T665A|960|RBM19|protein_coding|CODING|ENST00000261741|exon_12_114374812_114374941 0/1:99:255,0,255 . . . 12 114374887 rs2290787 T C NON_SYNONYMOUS_CODING RBM19 MODERATE|MISSENSE|Aca/Gca|T665A|960|RBM19|protein_coding|CODING|ENST00000392561|exon_12_114374812_114374941 0/1:99:255,0,255 . . . 12 114374887 rs2290787 T C NON_SYNONYMOUS_CODING RBM19 MODERATE|MISSENSE|Aca/Gca|T665A|960|RBM19|protein_coding|CODING|ENST00000545145|exon_12_114374812_114374941 0/1:99:255,0,255 . . . 12 114377835 rs2290788 A G NON_SYNONYMOUS_CODING RBM19 MODERATE|MISSENSE|aTc/aCc|I623T|960|RBM19|protein_coding|CODING|ENST00000261741|exon_12_114377765_114377965 0/1:99:180,0,176 . . . 12 114377835 rs2290788 A G NON_SYNONYMOUS_CODING RBM19 MODERATE|MISSENSE|aTc/aCc|I623T|960|RBM19|protein_coding|CODING|ENST00000392561|exon_12_114377765_114377965 0/1:99:180,0,176 . . . 12 114377835 rs2290788 A G NON_SYNONYMOUS_CODING RBM19 MODERATE|MISSENSE|aTc/aCc|I623T|960|RBM19|protein_coding|CODING|ENST00000545145|exon_12_114377765_114377965 0/1:99:180,0,176 . . . 12 114377877 rs2290789 T C NON_SYNONYMOUS_CODING RBM19 MODERATE|MISSENSE|cAt/cGt|H609R|960|RBM19|protein_coding|CODING|ENST00000261741|exon_12_114377765_114377965 0/1:99:189,0,155 . . . 12 114377877 rs2290789 T C NON_SYNONYMOUS_CODING RBM19 MODERATE|MISSENSE|cAt/cGt|H609R|960|RBM19|protein_coding|CODING|ENST00000392561|exon_12_114377765_114377965 0/1:99:189,0,155 . . . 12 114377877 rs2290789 T C NON_SYNONYMOUS_CODING RBM19 MODERATE|MISSENSE|cAt/cGt|H609R|960|RBM19|protein_coding|CODING|ENST00000545145|exon_12_114377765_114377965 0/1:99:189,0,155 . . . 12 114392971 . CGGTG CGGTGGTG CODON_CHANGE_PLUS_CODON_INSERTION RBM19 MODERATE||cac/cCACac|H294PH|960|RBM19|protein_coding|CODING|ENST00000261741|exon_12_114392936_114393016 . . 0/1:99:255,0,255 . 12 114392971 . CGGTG CGGTGGTG CODON_CHANGE_PLUS_CODON_INSERTION RBM19 MODERATE||cac/cCACac|H294PH|960|RBM19|protein_coding|CODING|ENST00000392561|exon_12_114392936_114393016 . . 0/1:99:255,0,255 . 12 114392971 . CGGTG CGGTGGTG CODON_CHANGE_PLUS_CODON_INSERTION RBM19 MODERATE||cac/cCACac|H294PH|960|RBM19|protein_coding|CODING|ENST00000545145|exon_12_114392936_114393016 . . 0/1:99:255,0,255 . 12 114395651 rs10850256 T C NON_SYNONYMOUS_CODING RBM19 MODERATE|MISSENSE|aAg/aGg|K259R|960|RBM19|protein_coding|CODING|ENST00000261741|exon_12_114395587_114395855 0/1:99:214,0,246 . . . 12 114395651 rs10850256 T C NON_SYNONYMOUS_CODING RBM19 MODERATE|MISSENSE|aAg/aGg|K259R|960|RBM19|protein_coding|CODING|ENST00000392561|exon_12_114395587_114395855 0/1:99:214,0,246 . . . 12 114395651 rs10850256 T C NON_SYNONYMOUS_CODING RBM19 MODERATE|MISSENSE|aAg/aGg|K259R|960|RBM19|protein_coding|CODING|ENST00000545145|exon_12_114395587_114395855 0/1:99:214,0,246 . . . 12 117160976 rs10507274 T C NON_SYNONYMOUS_CODING C12orf49 MODERATE|MISSENSE|cAg/cGg|Q55R|205|C12orf49|protein_coding|CODING|ENST00000261318|exon_12_117160872_117161028 0/1:99:255,0,255 0/1:99:245,0,255 . . 12 117289585 rs117866060 A G NON_SYNONYMOUS_CODING RNFT2 MODERATE|MISSENSE|Aag/Gag|K268E|321|RNFT2|protein_coding|CODING|ENST00000319176|exon_12_117289493_117290750 . . . 0/1:81:78,0,255 12 117465838 rs139880165 G A NON_SYNONYMOUS_CODING FBXW8 MODERATE|MISSENSE|cGg/cAg|R487Q|532|FBXW8|protein_coding|CODING|ENST00000455858|exon_12_117465833_117468953 . . . 0/1:99:218,0,164 12 117465838 rs139880165 G A NON_SYNONYMOUS_CODING FBXW8 MODERATE|MISSENSE|cGg/cAg|R487Q|532|FBXW8|protein_coding|CODING|ENST00000505227|exon_12_117465833_117466221 . . . 0/1:99:218,0,164 12 117465838 rs139880165 G A NON_SYNONYMOUS_CODING FBXW8 MODERATE|MISSENSE|cGg/cAg|R553Q|598|FBXW8|protein_coding|CODING|ENST00000309909|exon_12_117465833_117466441 . . . 0/1:99:218,0,164 12 119594512 rs140426282 G C NON_SYNONYMOUS_CODING SRRM4 MODERATE|MISSENSE|cGg/cCg|R582P|611|SRRM4|protein_coding|CODING|ENST00000267260|exon_12_119594300_119600856 . 0/1:99:151,0,205 . . 12 120114404 . C T NON_SYNONYMOUS_CODING PRKAB1 MODERATE|MISSENSE|Cgc/Tgc|R162C|233|PRKAB1|protein_coding|CODING|ENST00000539596|exon_12_120114342_120114475 0/1:99:255,0,204 . . . 12 120114404 . C T NON_SYNONYMOUS_CODING PRKAB1 MODERATE|MISSENSE|Cgc/Tgc|R199C|270|PRKAB1|protein_coding|CODING|ENST00000229328|exon_12_120114342_120114475 0/1:99:255,0,204 . . . 12 120114404 . C T NON_SYNONYMOUS_CODING PRKAB1 MODERATE|MISSENSE|Cgc/Tgc|R199C|270|PRKAB1|protein_coding|CODING|ENST00000541640|exon_12_120114342_120114475 0/1:99:255,0,204 . . . 12 120114404 . C T NON_SYNONYMOUS_CODING PRKAB1 MODERATE|MISSENSE|Cgc/Tgc|R33C|104|PRKAB1|protein_coding|CODING|ENST00000540121|exon_12_120114342_120114475 0/1:99:255,0,204 . . . 12 120114404 . C T NON_SYNONYMOUS_CODING PRKAB1 MODERATE|MISSENSE|Cgc/Tgc|R33C|61|PRKAB1|protein_coding|CODING|ENST00000545223|exon_12_120114342_120114475 0/1:99:255,0,204 . . . 12 120884291 rs17431446 C T NON_SYNONYMOUS_CODING GATC.1 MODERATE|MISSENSE|tCg/tTg|S3L|136|GATC.1|protein_coding|CODING|ENST00000551765|exon_12_120884241_120884364 . . 0/1:99:152,0,187 . 12 120907309 rs145350287 T A NON_SYNONYMOUS_CODING SRSF9 MODERATE|MISSENSE|tAc/tTc|Y35F|221|SRSF9|protein_coding|CODING|ENST00000229390|exon_12_120907225_120907596 . 0/1:35:167,0,32 . . 12 121416864 rs1800574 C T NON_SYNONYMOUS_CODING HNF1A MODERATE|MISSENSE|gCc/gTc|A98V|394|HNF1A|protein_coding|CODING|ENST00000543536|exon_12_121416429_121416897 0/1:99:186,0,169 . . . 12 121416864 rs1800574 C T NON_SYNONYMOUS_CODING HNF1A MODERATE|MISSENSE|gCc/gTc|A98V|452|HNF1A|protein_coding|CODING|ENST00000543027|exon_12_121416429_121416897 0/1:99:186,0,169 . . . 12 121416864 rs1800574 C T NON_SYNONYMOUS_CODING HNF1A MODERATE|MISSENSE|gCc/gTc|A98V|452|HNF1A|protein_coding|CODING|ENST00000545458|exon_12_121416498_121416897 0/1:99:186,0,169 . . . 12 121416864 rs1800574 C T NON_SYNONYMOUS_CODING HNF1A MODERATE|MISSENSE|gCc/gTc|A98V|471|HNF1A|protein_coding|CODING|ENST00000544680|exon_12_121416429_121416897 0/1:99:186,0,169 . . . 12 121416864 rs1800574 C T NON_SYNONYMOUS_CODING HNF1A MODERATE|MISSENSE|gCc/gTc|A98V|521|HNF1A|protein_coding|CODING|ENST00000344370|exon_12_121416549_121416897 0/1:99:186,0,169 . . . 12 121416864 rs1800574 C T NON_SYNONYMOUS_CODING HNF1A MODERATE|MISSENSE|gCc/gTc|A98V|523|HNF1A|protein_coding|CODING|ENST00000535125|exon_12_121416429_121416897 0/1:99:186,0,169 . . . 12 121416864 rs1800574 C T NON_SYNONYMOUS_CODING HNF1A MODERATE|MISSENSE|gCc/gTc|A98V|572|HNF1A|protein_coding|CODING|ENST00000340577|exon_12_121416549_121416897 0/1:99:186,0,169 . . . 12 121416864 rs1800574 C T NON_SYNONYMOUS_CODING HNF1A MODERATE|MISSENSE|gCc/gTc|A98V|603|HNF1A|protein_coding|CODING|ENST00000537424|exon_12_121416429_121416897 0/1:99:186,0,169 . . . 12 121416864 rs1800574 C T NON_SYNONYMOUS_CODING HNF1A MODERATE|MISSENSE|gCc/gTc|A98V|631|HNF1A|protein_coding|CODING|ENST00000257555|exon_12_121416346_121416897 0/1:99:186,0,169 . . . 12 121416864 rs1800574 C T NON_SYNONYMOUS_CODING HNF1A MODERATE|MISSENSE|gCc/gTc|A98V|638|HNF1A|protein_coding|CODING|ENST00000544413|exon_12_121416552_121416897 0/1:99:186,0,169 . . . 12 121416864 rs1800574 C T NON_SYNONYMOUS_CODING HNF1A MODERATE|MISSENSE|gCc/gTc|A98V|662|HNF1A|protein_coding|CODING|ENST00000541395|exon_12_121416549_121416897 0/1:99:186,0,169 . . . 12 121454148 rs11537857 C T NON_SYNONYMOUS_CODING C12orf43 MODERATE|MISSENSE|Ggg/Agg|G14R|179|C12orf43|protein_coding|CODING|ENST00000538296|exon_12_121454133_121454232 0/1:99:234,0,137 . . . 12 121454148 rs11537857 C T NON_SYNONYMOUS_CODING C12orf43 MODERATE|MISSENSE|Ggg/Agg|G14R|232|C12orf43|protein_coding|CODING|ENST00000445832|exon_12_121454133_121454290 0/1:99:234,0,137 . . . 12 121454148 rs11537857 C T NON_SYNONYMOUS_CODING C12orf43 MODERATE|MISSENSE|Ggg/Agg|G14R|263|C12orf43|protein_coding|CODING|ENST00000537817|exon_12_121454133_121454305 0/1:99:234,0,137 . . . 12 121454148 rs11537857 C T NON_SYNONYMOUS_CODING C12orf43 MODERATE|MISSENSE|Ggg/Agg|G44R|252|C12orf43|protein_coding|CODING|ENST00000539736|exon_12_121454133_121454290 0/1:99:234,0,137 . . . 12 121454148 rs11537857 C T NON_SYNONYMOUS_CODING C12orf43 MODERATE|MISSENSE|Ggg/Agg|G44R|262|C12orf43|protein_coding|CODING|ENST00000288757|exon_12_121454133_121454300 0/1:99:234,0,137 . . . 12 121666646 rs25644 A G NON_SYNONYMOUS_CODING P2RX4 MODERATE|MISSENSE|Agt/Ggt|S112G|144|P2RX4|protein_coding|CODING|ENST00000538701|exon_12_121666528_121666669 . . 0/1:99:255,0,233 . 12 121666646 rs25644 A G NON_SYNONYMOUS_CODING P2RX4 MODERATE|MISSENSE|Agt/Ggt|S141G|287|P2RX4|protein_coding|CODING|ENST00000543171|exon_12_121666528_121666669 . . 0/1:99:255,0,233 . 12 121666646 rs25644 A G NON_SYNONYMOUS_CODING P2RX4 MODERATE|MISSENSE|Agt/Ggt|S215G|360|P2RX4|protein_coding|CODING|ENST00000542067|exon_12_121666528_121666669 . . 0/1:99:255,0,233 . 12 121666646 rs25644 A G NON_SYNONYMOUS_CODING P2RX4 MODERATE|MISSENSE|Agt/Ggt|S242G|388|P2RX4|protein_coding|CODING|ENST00000337233|exon_12_121666528_121666669 . . 0/1:99:255,0,233 . 12 121666646 rs25644 A G NON_SYNONYMOUS_CODING P2RX4 MODERATE|MISSENSE|Agt/Ggt|S258G|404|P2RX4|protein_coding|CODING|ENST00000359949|exon_12_121666528_121666669 . . 0/1:99:255,0,233 . 12 121691096 rs1132780 G A NON_SYNONYMOUS_CODING CAMKK2 MODERATE|MISSENSE|Cgc/Tgc|R150C|343|CAMKK2|protein_coding|CODING|ENST00000545538|exon_12_121691076_121691275 . . 0/1:99:255,0,255 . 12 121691096 rs1132780 G A NON_SYNONYMOUS_CODING CAMKK2 MODERATE|MISSENSE|Cgc/Tgc|R346C|524|CAMKK2|protein_coding|CODING|ENST00000360452|exon_12_121691076_121691275 . . 0/1:99:255,0,255 . 12 121691096 rs1132780 G A NON_SYNONYMOUS_CODING CAMKK2 MODERATE|MISSENSE|Cgc/Tgc|R363C|490|CAMKK2|protein_coding|CODING|ENST00000446440|exon_12_121691076_121691275 . . 0/1:99:255,0,255 . 12 121691096 rs1132780 G A NON_SYNONYMOUS_CODING CAMKK2 MODERATE|MISSENSE|Cgc/Tgc|R363C|498|CAMKK2|protein_coding|CODING|ENST00000538733|exon_12_121691076_121691275 . . 0/1:99:255,0,255 . 12 121691096 rs1132780 G A NON_SYNONYMOUS_CODING CAMKK2 MODERATE|MISSENSE|Cgc/Tgc|R363C|533|CAMKK2|protein_coding|CODING|ENST00000392473|exon_12_121691076_121691275 . . 0/1:99:255,0,255 . 12 121691096 rs1132780 G A NON_SYNONYMOUS_CODING CAMKK2 MODERATE|MISSENSE|Cgc/Tgc|R363C|541|CAMKK2|protein_coding|CODING|ENST00000337174|exon_12_121691076_121691275 . . 0/1:99:255,0,255 . 12 121691096 rs1132780 G A NON_SYNONYMOUS_CODING CAMKK2 MODERATE|MISSENSE|Cgc/Tgc|R363C|541|CAMKK2|protein_coding|CODING|ENST00000412367|exon_12_121691076_121691275 . . 0/1:99:255,0,255 . 12 121691096 rs1132780 G A NON_SYNONYMOUS_CODING CAMKK2 MODERATE|MISSENSE|Cgc/Tgc|R363C|545|CAMKK2|protein_coding|CODING|ENST00000347034|exon_12_121691076_121691275 . . 0/1:99:255,0,255 . 12 121691096 rs1132780 G A NON_SYNONYMOUS_CODING CAMKK2 MODERATE|MISSENSE|Cgc/Tgc|R363C|556|CAMKK2|protein_coding|CODING|ENST00000392474|exon_12_121691076_121691275 . . 0/1:99:255,0,255 . 12 121691096 rs1132780 G A NON_SYNONYMOUS_CODING CAMKK2 MODERATE|MISSENSE|Cgc/Tgc|R363C|588|CAMKK2|protein_coding|CODING|ENST00000324774|exon_12_121691076_121691275 . . 0/1:99:255,0,255 . 12 121691096 rs1132780 G A NON_SYNONYMOUS_CODING CAMKK2 MODERATE|MISSENSE|Cgc/Tgc|R363C|588|CAMKK2|protein_coding|CODING|ENST00000404169|exon_12_121691076_121691275 . . 0/1:99:255,0,255 . 12 121712301 rs28360477 C T NON_SYNONYMOUS_CODING CAMKK2 MODERATE|MISSENSE|aGc/aAc|S10N|124|CAMKK2|protein_coding|CODING|ENST00000543477|exon_12_121711955_121712388 . . . 0/1:99:218,0,228 12 121712301 rs28360477 C T NON_SYNONYMOUS_CODING CAMKK2 MODERATE|MISSENSE|aGc/aAc|S10N|48|CAMKK2|protein_coding|CODING|ENST00000398924|exon_12_121712181_121712388 . . . 0/1:99:218,0,228 12 121712301 rs28360477 C T NON_SYNONYMOUS_CODING CAMKK2 MODERATE|MISSENSE|aGc/aAc|S10N|490|CAMKK2|protein_coding|CODING|ENST00000446440|exon_12_121711859_121712388 . . . 0/1:99:218,0,228 12 121712301 rs28360477 C T NON_SYNONYMOUS_CODING CAMKK2 MODERATE|MISSENSE|aGc/aAc|S10N|498|CAMKK2|protein_coding|CODING|ENST00000538733|exon_12_121711859_121712388 . . . 0/1:99:218,0,228 12 121712301 rs28360477 C T NON_SYNONYMOUS_CODING CAMKK2 MODERATE|MISSENSE|aGc/aAc|S10N|524|CAMKK2|protein_coding|CODING|ENST00000360452|exon_12_121712250_121712388 . . . 0/1:99:218,0,228 12 121712301 rs28360477 C T NON_SYNONYMOUS_CODING CAMKK2 MODERATE|MISSENSE|aGc/aAc|S10N|533|CAMKK2|protein_coding|CODING|ENST00000392473|exon_12_121711859_121712388 . . . 0/1:99:218,0,228 12 121712301 rs28360477 C T NON_SYNONYMOUS_CODING CAMKK2 MODERATE|MISSENSE|aGc/aAc|S10N|541|CAMKK2|protein_coding|CODING|ENST00000337174|exon_12_121711859_121712388 . . . 0/1:99:218,0,228 12 121712301 rs28360477 C T NON_SYNONYMOUS_CODING CAMKK2 MODERATE|MISSENSE|aGc/aAc|S10N|541|CAMKK2|protein_coding|CODING|ENST00000412367|exon_12_121711859_121712388 . . . 0/1:99:218,0,228 12 121712301 rs28360477 C T NON_SYNONYMOUS_CODING CAMKK2 MODERATE|MISSENSE|aGc/aAc|S10N|545|CAMKK2|protein_coding|CODING|ENST00000347034|exon_12_121711859_121712388 . . . 0/1:99:218,0,228 12 121712301 rs28360477 C T NON_SYNONYMOUS_CODING CAMKK2 MODERATE|MISSENSE|aGc/aAc|S10N|556|CAMKK2|protein_coding|CODING|ENST00000392474|exon_12_121711859_121712334 . . . 0/1:99:218,0,228 12 121712301 rs28360477 C T NON_SYNONYMOUS_CODING CAMKK2 MODERATE|MISSENSE|aGc/aAc|S10N|588|CAMKK2|protein_coding|CODING|ENST00000324774|exon_12_121711859_121712388 . . . 0/1:99:218,0,228 12 121712301 rs28360477 C T NON_SYNONYMOUS_CODING CAMKK2 MODERATE|MISSENSE|aGc/aAc|S10N|588|CAMKK2|protein_coding|CODING|ENST00000404169|exon_12_121711859_121712388 . . . 0/1:99:218,0,228 12 121712301 rs28360477 C T NON_SYNONYMOUS_CODING CAMKK2 MODERATE|MISSENSE|aGc/aAc|S10N|86|CAMKK2|protein_coding|CODING|ENST00000544485|exon_12_121712068_121712388 . . . 0/1:99:218,0,228 12 121858116 rs61751317 A T NON_SYNONYMOUS_CODING RNF34 MODERATE|MISSENSE|gaA/gaT|E235D|372|RNF34|protein_coding|CODING|ENST00000361234|exon_12_121858045_121858137 . . 0/1:99:255,0,227 . 12 121858116 rs61751317 A T NON_SYNONYMOUS_CODING RNF34 MODERATE|MISSENSE|gaA/gaT|E235D|507|RNF34|protein_coding|CODING|ENST00000392464|exon_12_121858045_121858137 . . 0/1:99:255,0,227 . 12 121858116 rs61751317 A T NON_SYNONYMOUS_CODING RNF34 MODERATE|MISSENSE|gaA/gaT|E236D|373|RNF34|protein_coding|CODING|ENST00000354795|exon_12_121858045_121858137 . . 0/1:99:255,0,227 . 12 121858116 rs61751317 A T NON_SYNONYMOUS_CODING RNF34 MODERATE|MISSENSE|gaA/gaT|E236D|373|RNF34|protein_coding|CODING|ENST00000392465|exon_12_121858045_121858137 . . 0/1:99:255,0,227 . 12 122332727 rs2291116 C T NON_SYNONYMOUS_CODING PSMD9 MODERATE|MISSENSE|aCc/aTc|T74I|152|PSMD9|protein_coding|CODING|ENST00000538613|exon_12_122332645_122332747 0/1:99:188,0,254 . . . 12 122332727 rs2291116 C T NON_SYNONYMOUS_CODING PSMD9 MODERATE|MISSENSE|aCc/aTc|T74I|207|PSMD9|protein_coding|CODING|ENST00000340175|exon_12_122332645_122332747 0/1:99:188,0,254 . . . 12 122332727 rs2291116 C T NON_SYNONYMOUS_CODING PSMD9 MODERATE|MISSENSE|aCc/aTc|T74I|222|PSMD9|protein_coding|CODING|ENST00000261817|exon_12_122332645_122332747 0/1:99:188,0,254 . . . 12 122332727 rs2291116 C T NON_SYNONYMOUS_CODING PSMD9 MODERATE|MISSENSE|aCc/aTc|T74I|223|PSMD9|protein_coding|CODING|ENST00000541212|exon_12_122332645_122332747 0/1:99:188,0,254 . . . 12 122372183 rs77540055 G A NON_SYNONYMOUS_CODING WDR66 MODERATE|MISSENSE|Gtc/Atc|V307I|1149|WDR66|protein_coding|CODING|ENST00000288912|exon_12_122372153_122372262 . 0/1:99:255,0,239 1/1:99:255,102,0 . 12 122372183 rs77540055 G A NON_SYNONYMOUS_CODING WDR66 MODERATE|MISSENSE|Gtc/Atc|V307I|941|WDR66|protein_coding|CODING|ENST00000397454|exon_12_122372153_122372262 . 0/1:99:255,0,239 1/1:99:255,102,0 . 12 122386948 rs78910014 G A NON_SYNONYMOUS_CODING WDR66 MODERATE|MISSENSE|cGg/cAg|R417Q|1149|WDR66|protein_coding|CODING|ENST00000288912|exon_12_122386890_122386967 . 0/1:99:255,0,255 1/1:99:255,123,0 . 12 122386948 rs78910014 G A NON_SYNONYMOUS_CODING WDR66 MODERATE|MISSENSE|cGg/cAg|R417Q|941|WDR66|protein_coding|CODING|ENST00000397454|exon_12_122386890_122386967 . 0/1:99:255,0,255 1/1:99:255,123,0 . 12 122481879 rs34821485 A C NON_SYNONYMOUS_CODING BCL7A MODERATE|MISSENSE|aAc/aCc|N120T|210|BCL7A|protein_coding|CODING|ENST00000261822|exon_12_122481792_122481959 . . . 0/1:99:255,0,151 12 122481879 rs34821485 A C NON_SYNONYMOUS_CODING BCL7A MODERATE|MISSENSE|aAc/aCc|N120T|231|BCL7A|protein_coding|CODING|ENST00000538010|exon_12_122481792_122481959 . . . 0/1:99:255,0,151 12 123334748 rs148746514 G A NON_SYNONYMOUS_CODING HIP1R MODERATE|MISSENSE|aGc/aAc|S62N|250|HIP1R|protein_coding|CODING|ENST00000376938|exon_12_123334564_123334872 . . 0/1:95:129,0,92 . 12 123335022 rs187894122 G T NON_SYNONYMOUS_CODING HIP1R MODERATE|MISSENSE|Ggg/Tgg|G153W|250|HIP1R|protein_coding|CODING|ENST00000376938|exon_12_123334875_123335126 . . . 1/1:16:66,9,0 12 123335101 . C T NON_SYNONYMOUS_CODING HIP1R MODERATE|MISSENSE|tCg/tTg|S179L|250|HIP1R|protein_coding|CODING|ENST00000376938|exon_12_123334875_123335126 . . 1/1:27:95,15,0 . 12 123335146 rs192841421 G T NON_SYNONYMOUS_CODING HIP1R MODERATE|MISSENSE|Ggg/Tgg|G194W|250|HIP1R|protein_coding|CODING|ENST00000376938|exon_12_123335128_123335237 . . . 1/1:10:53,6,0 12 123342706 rs117866676 C T NON_SYNONYMOUS_CODING HIP1R MODERATE|MISSENSE|Cgg/Tgg|R625W|1068|HIP1R|protein_coding|CODING|ENST00000253083|exon_12_123342649_123342796 0/1:99:202,0,251 . . . 12 123519112 rs17884869 G A NON_SYNONYMOUS_CODING PITPNM2 MODERATE|MISSENSE|cCt/cTt|P9L|1070|PITPNM2|protein_coding|CODING|ENST00000392428|exon_12_123519060_123519232 . . . 0/1:99:236,0,183 12 123519112 rs17884869 G A NON_SYNONYMOUS_CODING PITPNM2 MODERATE|MISSENSE|cCt/cTt|P9L|1343|PITPNM2|protein_coding|CODING|ENST00000280562|exon_12_123519060_123519232 . . . 0/1:99:236,0,183 12 123519112 rs17884869 G A NON_SYNONYMOUS_CODING PITPNM2 MODERATE|MISSENSE|cCt/cTt|P9L|1349|PITPNM2|protein_coding|CODING|ENST00000320201|exon_12_123519060_123519232 . . . 0/1:99:236,0,183 12 123519112 rs17884869 G A NON_SYNONYMOUS_CODING PITPNM2 MODERATE|MISSENSE|cCt/cTt|P9L|1349|PITPNM2|protein_coding|CODING|ENST00000542749|exon_12_123519060_123519201 . . . 0/1:99:236,0,183 12 123519112 rs17884869 G A NON_SYNONYMOUS_CODING PITPNM2 MODERATE|MISSENSE|cCt/cTt|P9L|14|PITPNM2|protein_coding|CODING|ENST00000541244|exon_12_123519092_123519232 . . . 0/1:99:236,0,183 12 123519112 rs17884869 G A NON_SYNONYMOUS_CODING PITPNM2 MODERATE|MISSENSE|cCt/cTt|P9L|40|PITPNM2|protein_coding|CODING|ENST00000542210|exon_12_123519060_123519232 . . . 0/1:99:236,0,183 12 124097766 rs11057306 A G NON_SYNONYMOUS_CODING DDX55 MODERATE|MISSENSE|aAt/aGt|N264S|353|DDX55|protein_coding|CODING|ENST00000538449|exon_12_124097717_124097799 . 0/1:99:216,0,255 1/1:99:255,108,0 . 12 124097766 rs11057306 A G NON_SYNONYMOUS_CODING DDX55 MODERATE|MISSENSE|aAt/aGt|N264S|569|DDX55|protein_coding|CODING|ENST00000538744|exon_12_124097717_124097799 . 0/1:99:216,0,255 1/1:99:255,108,0 . 12 124097766 rs11057306 A G NON_SYNONYMOUS_CODING DDX55 MODERATE|MISSENSE|aAt/aGt|N264S|600|DDX55|protein_coding|CODING|ENST00000238146|exon_12_124097717_124097799 . 0/1:99:216,0,255 1/1:99:255,108,0 . 12 124241506 rs17883456 C T NON_SYNONYMOUS_CODING ATP6V0A2 MODERATE|MISSENSE|gCg/gTg|A813V|856|ATP6V0A2|protein_coding|CODING|ENST00000330342|exon_12_124241362_124241533 . 0/1:99:167,0,226 0/1:99:255,0,155 . 12 124241506 rs17883456 C T NON_SYNONYMOUS_CODING ATP6V0A2 MODERATE|MISSENSE|gCg/gTg|A93V|130|ATP6V0A2|protein_coding|CODING|ENST00000534943|exon_12_124241362_124241533 . 0/1:99:167,0,226 0/1:99:255,0,155 . 12 124241506 rs17883456 C T NON_SYNONYMOUS_CODING ATP6V0A2 MODERATE|MISSENSE|gCg/gTg|A95V|138|ATP6V0A2|protein_coding|CODING|ENST00000544833|exon_12_124241362_124241533 . 0/1:99:167,0,226 0/1:99:255,0,155 . 12 124887077 . GCT GCTTCT CODON_INSERTION NCOR2 MODERATE||-/AGA|-503R|2458|NCOR2|protein_coding|CODING|ENST00000404621|exon_12_124886950_124887107 0/1:75:155,0,72 . . . 12 124887077 . GCT GCTTCT CODON_INSERTION NCOR2 MODERATE||-/AGA|-503R|2504|NCOR2|protein_coding|CODING|ENST00000429285|exon_12_124886950_124887107 0/1:75:155,0,72 . . . 12 124887077 . GCT GCTTCT CODON_INSERTION NCOR2 MODERATE||-/AGA|-504R|1450|NCOR2|protein_coding|CODING|ENST00000458234|exon_12_124886950_124887107 0/1:75:155,0,72 . . . 12 124887077 . GCT GCTTCT CODON_INSERTION NCOR2 MODERATE||-/AGA|-504R|2459|NCOR2|protein_coding|CODING|ENST00000397355|exon_12_124886950_124887107 0/1:75:155,0,72 . . . 12 124887077 . GCT GCTTCT CODON_INSERTION NCOR2 MODERATE||-/AGA|-504R|2513|NCOR2|protein_coding|CODING|ENST00000447011|exon_12_124886950_124887107 0/1:75:155,0,72 . . . 12 124887077 . GCT GCTTCT CODON_INSERTION NCOR2 MODERATE||-/AGA|-504R|2514|NCOR2|protein_coding|CODING|ENST00000405201|exon_12_124886950_124887107 0/1:75:155,0,72 . . . 12 124887077 . GCT GCTTCT CODON_INSERTION NCOR2 MODERATE||-/AGA|-504R|2521|NCOR2|protein_coding|CODING|ENST00000356219|exon_12_124886950_124887107 0/1:75:155,0,72 . . . 12 124887077 . GCT GCTTCT CODON_INSERTION NCOR2 MODERATE||-/AGA|-74R|2075|NCOR2|protein_coding|CODING|ENST00000404121|exon_12_124886950_124887107 0/1:75:155,0,72 . . . 12 124887090 . CTG CTGGTG CODON_CHANGE_PLUS_CODON_INSERTION NCOR2 MODERATE||cag/caCACg|Q498HT|2458|NCOR2|protein_coding|CODING|ENST00000404621|exon_12_124886950_124887107 . 0/1:27:147,0,24 . . 12 124887090 . CTG CTGGTG CODON_CHANGE_PLUS_CODON_INSERTION NCOR2 MODERATE||cag/caCACg|Q498HT|2504|NCOR2|protein_coding|CODING|ENST00000429285|exon_12_124886950_124887107 . 0/1:27:147,0,24 . . 12 124887090 . CTG CTGGTG CODON_CHANGE_PLUS_CODON_INSERTION NCOR2 MODERATE||cag/caCACg|Q499HT|1450|NCOR2|protein_coding|CODING|ENST00000458234|exon_12_124886950_124887107 . 0/1:27:147,0,24 . . 12 124887090 . CTG CTGGTG CODON_CHANGE_PLUS_CODON_INSERTION NCOR2 MODERATE||cag/caCACg|Q499HT|2459|NCOR2|protein_coding|CODING|ENST00000397355|exon_12_124886950_124887107 . 0/1:27:147,0,24 . . 12 124887090 . CTG CTGGTG CODON_CHANGE_PLUS_CODON_INSERTION NCOR2 MODERATE||cag/caCACg|Q499HT|2513|NCOR2|protein_coding|CODING|ENST00000447011|exon_12_124886950_124887107 . 0/1:27:147,0,24 . . 12 124887090 . CTG CTGGTG CODON_CHANGE_PLUS_CODON_INSERTION NCOR2 MODERATE||cag/caCACg|Q499HT|2514|NCOR2|protein_coding|CODING|ENST00000405201|exon_12_124886950_124887107 . 0/1:27:147,0,24 . . 12 124887090 . CTG CTGGTG CODON_CHANGE_PLUS_CODON_INSERTION NCOR2 MODERATE||cag/caCACg|Q499HT|2521|NCOR2|protein_coding|CODING|ENST00000356219|exon_12_124886950_124887107 . 0/1:27:147,0,24 . . 12 124887090 . CTG CTGGTG CODON_CHANGE_PLUS_CODON_INSERTION NCOR2 MODERATE||cag/caCACg|Q69HT|2075|NCOR2|protein_coding|CODING|ENST00000404121|exon_12_124886950_124887107 . 0/1:27:147,0,24 . . 12 125453115 rs11057939 C T NON_SYNONYMOUS_CODING DHX37 MODERATE|MISSENSE|cGg/cAg|R245Q|962|DHX37|protein_coding|CODING|ENST00000544745|exon_12_125453080_125453194 . 0/1:99:220,0,246 0/1:99:162,0,207 . 12 125453115 rs11057939 C T NON_SYNONYMOUS_CODING DHX37 MODERATE|MISSENSE|cGg/cAg|R458Q|1157|DHX37|protein_coding|CODING|ENST00000308736|exon_12_125453080_125453194 . 0/1:99:220,0,246 0/1:99:162,0,207 . 12 125561151 rs11549081 A G NON_SYNONYMOUS_CODING AACS MODERATE|MISSENSE|Att/Gtt|I118V|141|AACS|protein_coding|CODING|ENST00000536752|exon_12_125561037_125561157 . . . 0/1:99:255,0,255 12 125561151 rs11549081 A G NON_SYNONYMOUS_CODING AACS MODERATE|MISSENSE|Att/Gtt|I118V|599|AACS|protein_coding|CODING|ENST00000261686|exon_12_125561037_125561157 . . . 0/1:99:255,0,255 12 125561151 rs11549081 A G NON_SYNONYMOUS_CODING AACS MODERATE|MISSENSE|Att/Gtt|I118V|672|AACS|protein_coding|CODING|ENST00000316519|exon_12_125561037_125561157 . . . 0/1:99:255,0,255 12 125626685 rs3751180 C T NON_SYNONYMOUS_CODING AACS MODERATE|MISSENSE|Cgc/Tgc|R576C|599|AACS|protein_coding|CODING|ENST00000261686|exon_12_125626638_125627861 0/1:99:255,0,199 . . . 12 128899991 . A G NON_SYNONYMOUS_CODING TMEM132C MODERATE|MISSENSE|cAg/cGg|Q267R|1108|TMEM132C|protein_coding|CODING|ENST00000435159|exon_12_128899277_128900165 . 0/1:99:191,0,207 . . 12 129299446 rs33990080 A G NON_SYNONYMOUS_CODING SLC15A4 MODERATE|MISSENSE|gTc/gCc|V239A|577|SLC15A4|protein_coding|CODING|ENST00000266771|exon_12_129299320_129299615 . . . 1/1:99:255,90,0 12 130184761 . C T NON_SYNONYMOUS_CODING TMEM132D MODERATE|MISSENSE|Gac/Aac|D188N|1099|TMEM132D|protein_coding|CODING|ENST00000422113|exon_12_130184355_130185243 . . . 0/1:99:119,0,192 12 130926818 rs78067928 T A NON_SYNONYMOUS_CODING RIMBP2 MODERATE|MISSENSE|aAc/aTc|N251I|644|RIMBP2|protein_coding|CODING|ENST00000392375|exon_12_130926393_130927205 . 0/1:99:242,0,255 . . 12 130926818 rs78067928 T A NON_SYNONYMOUS_CODING RIMBP2 MODERATE|MISSENSE|aAc/aTc|N251I|645|RIMBP2|protein_coding|CODING|ENST00000535703|exon_12_130926393_130927205 . 0/1:99:242,0,255 . . 12 130926818 rs78067928 T A NON_SYNONYMOUS_CODING RIMBP2 MODERATE|MISSENSE|aAc/aTc|N251I|645|RIMBP2|protein_coding|CODING|ENST00000536002|exon_12_130926393_130927205 . 0/1:99:242,0,255 . . 12 130926818 rs78067928 T A NON_SYNONYMOUS_CODING RIMBP2 MODERATE|MISSENSE|aAc/aTc|N343I|1052|RIMBP2|protein_coding|CODING|ENST00000261655|exon_12_130926393_130927205 . 0/1:99:242,0,255 . . 12 132240010 rs34541796 G A NON_SYNONYMOUS_CODING SFSWAP MODERATE|MISSENSE|Ggc/Agc|G305S|545|SFSWAP|protein_coding|CODING|ENST00000535236|exon_12_132239931_132240024 . . 0/1:99:255,0,255 . 12 132240010 rs34541796 G A NON_SYNONYMOUS_CODING SFSWAP MODERATE|MISSENSE|Ggc/Agc|G449S|546|SFSWAP|protein_coding|CODING|ENST00000544623|exon_12_132239931_132240024 . . 0/1:99:255,0,255 . 12 132240010 rs34541796 G A NON_SYNONYMOUS_CODING SFSWAP MODERATE|MISSENSE|Ggc/Agc|G512S|1003|SFSWAP|protein_coding|CODING|ENST00000541286|exon_12_132239931_132240024 . . 0/1:99:255,0,255 . 12 132240010 rs34541796 G A NON_SYNONYMOUS_CODING SFSWAP MODERATE|MISSENSE|Ggc/Agc|G512S|951|SFSWAP|protein_coding|CODING|ENST00000261674|exon_12_132239931_132240024 . . 0/1:99:255,0,255 . 12 132334460 rs139162290 A G NON_SYNONYMOUS_CODING MMP17 MODERATE|MISSENSE|Aat/Gat|N281D|301|MMP17|protein_coding|CODING|ENST00000534865|exon_12_132334347_132334526 . . . 0/1:99:187,0,255 12 132334460 rs139162290 A G NON_SYNONYMOUS_CODING MMP17 MODERATE|MISSENSE|Aat/Gat|N356D|519|MMP17|protein_coding|CODING|ENST00000535291|exon_12_132334347_132334604 . . . 0/1:99:187,0,255 12 132334460 rs139162290 A G NON_SYNONYMOUS_CODING MMP17 MODERATE|MISSENSE|Aat/Gat|N440D|603|MMP17|protein_coding|CODING|ENST00000360564|exon_12_132334347_132334604 . . . 0/1:99:187,0,255 12 132334460 rs139162290 A G NON_SYNONYMOUS_CODING MMP17 MODERATE|MISSENSE|Aat/Gat|N70D|117|MMP17|protein_coding|CODING|ENST00000542648|exon_12_132334347_132334607 . . . 0/1:99:187,0,255 12 132335554 . C T NON_SYNONYMOUS_CODING MMP17 MODERATE|MISSENSE|aCg/aTg|T432M|519|MMP17|protein_coding|CODING|ENST00000535291|exon_12_132335470_132336328 . 0/1:99:196,0,164 . . 12 132335554 . C T NON_SYNONYMOUS_CODING MMP17 MODERATE|MISSENSE|aCg/aTg|T516M|603|MMP17|protein_coding|CODING|ENST00000360564|exon_12_132335470_132336316 . 0/1:99:196,0,164 . . 12 132335554 . C T NON_SYNONYMOUS_CODING MMP17 MODERATE|MISSENSE|aCg/aTg|T56M|143|MMP17|protein_coding|CODING|ENST00000535004|exon_12_132335470_132335912 . 0/1:99:196,0,164 . . 12 132335592 rs11835665 G A NON_SYNONYMOUS_CODING MMP17 MODERATE|MISSENSE|Gat/Aat|D445N|519|MMP17|protein_coding|CODING|ENST00000535291|exon_12_132335470_132336328 . . 0/1:99:124,0,177 . 12 132335592 rs11835665 G A NON_SYNONYMOUS_CODING MMP17 MODERATE|MISSENSE|Gat/Aat|D529N|603|MMP17|protein_coding|CODING|ENST00000360564|exon_12_132335470_132336316 . . 0/1:99:124,0,177 . 12 132335592 rs11835665 G A NON_SYNONYMOUS_CODING MMP17 MODERATE|MISSENSE|Gat/Aat|D69N|143|MMP17|protein_coding|CODING|ENST00000535004|exon_12_132335470_132335912 . . 0/1:99:124,0,177 . 12 132402092 . G A NON_SYNONYMOUS_CODING ULK1 MODERATE|MISSENSE|atG/atA|M121I|242|ULK1|protein_coding|CODING|ENST00000541761|exon_12_132401956_132402099 . . . 0/1:99:164,0,134 12 132402092 . G A NON_SYNONYMOUS_CODING ULK1 MODERATE|MISSENSE|atG/atA|M773I|1050|ULK1|protein_coding|CODING|ENST00000321867|exon_12_132401956_132402099 . . . 0/1:99:164,0,134 12 132403075 . G A NON_SYNONYMOUS_CODING ULK1 MODERATE|MISSENSE|cGc/cAc|R135H|242|ULK1|protein_coding|CODING|ENST00000541761|exon_12_132403042_132403226 0/1:99:162,0,201 . . . 12 132403075 . G A NON_SYNONYMOUS_CODING ULK1 MODERATE|MISSENSE|cGc/cAc|R32H|295|ULK1|protein_coding|CODING|ENST00000540647|exon_12_132402847_132403226 0/1:99:162,0,201 . . . 12 132403075 . G A NON_SYNONYMOUS_CODING ULK1 MODERATE|MISSENSE|cGc/cAc|R787H|1050|ULK1|protein_coding|CODING|ENST00000321867|exon_12_132403042_132403226 0/1:99:162,0,201 . . . 12 132445675 rs61745448 G A NON_SYNONYMOUS_CODING EP400 MODERATE|MISSENSE|Gtg/Atg|V171M|1729|EP400|protein_coding|CODING|ENST00000542457|exon_12_132445160_132446499 . . 0/1:99:120,0,151 . 12 132445675 rs61745448 G A NON_SYNONYMOUS_CODING EP400 MODERATE|MISSENSE|Gtg/Atg|V171M|3042|EP400|protein_coding|CODING|ENST00000330386|exon_12_132445130_132446499 . . 0/1:99:120,0,151 . 12 132445675 rs61745448 G A NON_SYNONYMOUS_CODING EP400 MODERATE|MISSENSE|Gtg/Atg|V171M|3086|EP400|protein_coding|CODING|ENST00000332482|exon_12_132445130_132446499 . . 0/1:99:120,0,151 . 12 132445675 rs61745448 G A NON_SYNONYMOUS_CODING EP400 MODERATE|MISSENSE|Gtg/Atg|V171M|3122|EP400|protein_coding|CODING|ENST00000389562|exon_12_132445130_132446499 . . 0/1:99:120,0,151 . 12 132445675 rs61745448 G A NON_SYNONYMOUS_CODING EP400 MODERATE|MISSENSE|Gtg/Atg|V171M|3123|EP400|protein_coding|CODING|ENST00000389561|exon_12_132445130_132446499 . . 0/1:99:120,0,151 . 12 132445675 rs61745448 G A NON_SYNONYMOUS_CODING EP400 MODERATE|MISSENSE|Gtg/Atg|V171M|3123|EP400|protein_coding|CODING|ENST00000541296|exon_12_132445129_132446499 . . 0/1:99:120,0,151 . 12 132445675 rs61745448 G A NON_SYNONYMOUS_CODING EP400 MODERATE|MISSENSE|Gtg/Atg|V171M|3159|EP400|protein_coding|CODING|ENST00000333577|exon_12_132445130_132446499 . . 0/1:99:120,0,151 . 12 132445675 rs61745448 G A NON_SYNONYMOUS_CODING EP400 MODERATE|MISSENSE|Gtg/Atg|V171M|823|EP400|protein_coding|CODING|ENST00000537902|exon_12_132445130_132446499 . . 0/1:99:120,0,151 . 12 132445675 rs61745448 G A NON_SYNONYMOUS_CODING EP400 MODERATE|MISSENSE|Gtg/Atg|V171M|985|EP400|protein_coding|CODING|ENST00000423130|exon_12_132445130_132446499 . . 0/1:99:120,0,151 . 12 133257837 rs34047482 C A NON_SYNONYMOUS_CODING POLE MODERATE|MISSENSE|Gca/Tca|A31S|2259|POLE|protein_coding|CODING|ENST00000535270|exon_12_133257724_133257865 . 0/1:99:204,0,215 . . 12 133257837 rs34047482 C A NON_SYNONYMOUS_CODING POLE MODERATE|MISSENSE|Gca/Tca|A31S|2286|POLE|protein_coding|CODING|ENST00000320574|exon_12_133257724_133257865 . 0/1:99:204,0,215 . . 12 133257837 rs34047482 C A NON_SYNONYMOUS_CODING POLE MODERATE|MISSENSE|Gca/Tca|A42S|2297|POLE|protein_coding|CODING|ENST00000455752|exon_12_133257724_133257865 . 0/1:99:204,0,215 . . 12 133318026 . G A NON_SYNONYMOUS_CODING ANKLE2 MODERATE|MISSENSE|Cgg/Tgg|R237W|250|ANKLE2|protein_coding|CODING|ENST00000545623|exon_12_133318005_133318071 . 0/1:99:232,0,217 . . 12 133318026 . G A NON_SYNONYMOUS_CODING ANKLE2 MODERATE|MISSENSE|Cgg/Tgg|R30W|128|ANKLE2|protein_coding|CODING|ENST00000535036|exon_12_133318005_133318071 . 0/1:99:232,0,217 . . 12 133318026 . G A NON_SYNONYMOUS_CODING ANKLE2 MODERATE|MISSENSE|Cgg/Tgg|R405W|876|ANKLE2|protein_coding|CODING|ENST00000539605|exon_12_133318005_133318071 . 0/1:99:232,0,217 . . 12 133318026 . G A NON_SYNONYMOUS_CODING ANKLE2 MODERATE|MISSENSE|Cgg/Tgg|R467W|648|ANKLE2|protein_coding|CODING|ENST00000337516|exon_12_133318005_133318071 . 0/1:99:232,0,217 . . 12 133318026 . G A NON_SYNONYMOUS_CODING ANKLE2 MODERATE|MISSENSE|Cgg/Tgg|R467W|938|ANKLE2|protein_coding|CODING|ENST00000357997|exon_12_133318005_133318071 . 0/1:99:232,0,217 . . 12 133318406 rs11147040 G T NON_SYNONYMOUS_CODING ANKLE2 MODERATE|MISSENSE|Cca/Aca|P11T|128|ANKLE2|protein_coding|CODING|ENST00000535036|exon_12_133318395_133318477 . . 0/1:99:255,0,255 1/1:99:255,72,0 12 133357412 rs2291260 T C NON_SYNONYMOUS_CODING GOLGA3 MODERATE|MISSENSE|aAg/aGg|K1185R|1390|GOLGA3|protein_coding|CODING|ENST00000456883|exon_12_133357384_133357500 . 1/1:99:255,78,0 . . 12 133357412 rs2291260 T C NON_SYNONYMOUS_CODING GOLGA3 MODERATE|MISSENSE|aAg/aGg|K1185R|1498|GOLGA3|protein_coding|CODING|ENST00000204726|exon_12_133357384_133357500 . 1/1:99:255,78,0 . . 12 133357412 rs2291260 T C NON_SYNONYMOUS_CODING GOLGA3 MODERATE|MISSENSE|aAg/aGg|K1185R|1498|GOLGA3|protein_coding|CODING|ENST00000450791|exon_12_133357384_133357500 . 1/1:99:255,78,0 . . 12 133438985 rs113941471 C A NON_SYNONYMOUS_CODING CHFR MODERATE|MISSENSE|Gct/Tct|A144S|623|CHFR|protein_coding|CODING|ENST00000315585|exon_12_133438919_133439011 . . . 0/1:99:230,0,203 12 133697130 rs2173970 C G NON_SYNONYMOUS_CODING ZNF891 MODERATE|MISSENSE|Gtt/Ctt|V459L|544|ZNF891|protein_coding|CODING|ENST00000397313|exon_12_133696870_133698504 . . 0/1:99:187,0,255 . 12 133697130 rs2173970 C G NON_SYNONYMOUS_CODING ZNF891 MODERATE|MISSENSE|Gtt/Ctt|V459L|544|ZNF891|protein_coding|CODING|ENST00000537226|exon_12_133694740_133698610 . . 0/1:99:187,0,255 . 12 133697760 rs7953400 C T NON_SYNONYMOUS_CODING ZNF891 MODERATE|MISSENSE|Gaa/Aaa|E249K|544|ZNF891|protein_coding|CODING|ENST00000397313|exon_12_133696870_133698504 . 0/1:99:255,0,255 . . 12 133697760 rs7953400 C T NON_SYNONYMOUS_CODING ZNF891 MODERATE|MISSENSE|Gaa/Aaa|E249K|544|ZNF891|protein_coding|CODING|ENST00000537226|exon_12_133694740_133698610 . 0/1:99:255,0,255 . . 12 133732512 rs11147259 A G NON_SYNONYMOUS_CODING ZNF10 MODERATE|MISSENSE|cAg/cGg|Q185R|191|ZNF10|protein_coding|CODING|ENST00000537119|exon_12_133732089_133732535 . 0/1:99:255,0,232 . . 12 133732512 rs11147259 A G NON_SYNONYMOUS_CODING ZNF10 MODERATE|MISSENSE|cAg/cGg|Q227R|573|ZNF10|protein_coding|CODING|ENST00000248211|exon_12_133732089_133736051 . 0/1:99:255,0,232 . . 12 133732512 rs11147259 A G NON_SYNONYMOUS_CODING ZNF10 MODERATE|MISSENSE|cAg/cGg|Q227R|573|ZNF10|protein_coding|CODING|ENST00000426665|exon_12_133732089_133733554 . 0/1:99:255,0,232 . . 12 133768553 rs61960670 A T NON_SYNONYMOUS_CODING ZNF268 MODERATE|MISSENSE|Atg/Ttg|M141L|947|ZNF268|protein_coding|CODING|ENST00000228289|exon_12_133768494_133768589 . . 0/1:99:255,0,255 . 12 133768553 rs61960670 A T NON_SYNONYMOUS_CODING ZNF268 MODERATE|MISSENSE|Atg/Ttg|M141L|947|ZNF268|protein_coding|CODING|ENST00000541009|exon_12_133768494_133768589 . . 0/1:99:255,0,255 . 12 133768553 rs61960670 A T NON_SYNONYMOUS_CODING ZNF268 MODERATE|MISSENSE|Atg/Ttg|M306L|358|ZNF268|protein_coding|CODING|ENST00000416488|exon_12_133768494_133768589 . . 0/1:99:255,0,255 . 12 133768553 rs61960670 A T NON_SYNONYMOUS_CODING ZNF268 MODERATE|MISSENSE|Atg/Ttg|M65L|117|ZNF268|protein_coding|CODING|ENST00000534953|exon_12_133768307_133768589 . . 0/1:99:255,0,255 . 12 133768553 rs61960670 A T NON_SYNONYMOUS_CODING ZNF268 MODERATE|MISSENSE|Atg/Ttg|M74L|126|ZNF268|protein_coding|CODING|ENST00000542986|exon_12_133768494_133768589 . . 0/1:99:255,0,255 . 12 133780851 rs62644541 G C NON_SYNONYMOUS_CODING ZNF268 MODERATE|MISSENSE|aGa/aCa|R699T|730|ZNF268|protein_coding|CODING|ENST00000541019|exon_12_133778756_133780867 . . 0/1:99:255,0,255 . 12 133780851 rs62644541 G C NON_SYNONYMOUS_CODING ZNF268 MODERATE|MISSENSE|aGa/aCa|R699T|786|ZNF268|protein_coding|CODING|ENST00000537565|exon_12_133778730_133781707 . . 0/1:99:255,0,255 . 12 133780851 rs62644541 G C NON_SYNONYMOUS_CODING ZNF268 MODERATE|MISSENSE|aGa/aCa|R860T|947|ZNF268|protein_coding|CODING|ENST00000228289|exon_12_133778730_133781609 . . 0/1:99:255,0,255 . 12 133780851 rs62644541 G C NON_SYNONYMOUS_CODING ZNF268 MODERATE|MISSENSE|aGa/aCa|R860T|947|ZNF268|protein_coding|CODING|ENST00000541009|exon_12_133778730_133782663 . . 0/1:99:255,0,255 . 12 133803551 rs36146434 G C NON_SYNONYMOUS_CODING AC226150.2.1 MODERATE|MISSENSE|tCt/tGt|S230C|379|AC226150.2.1|protein_coding|CODING|ENST00000419717|exon_12_133803522_133803738 . . 0/1:99:222,0,234 . 12 133803551 rs36146434 G C NON_SYNONYMOUS_CODING AC226150.2.1 MODERATE|MISSENSE|tCt/tGt|S230C|379|AC226150.2.1|protein_coding|CODING|ENST00000545940|exon_12_133803522_133803738 . . 0/1:99:222,0,234 . 13 19753484 rs36215077 C G NON_SYNONYMOUS_CODING TUBA3C MODERATE|MISSENSE|Gtc/Ctc|V75L|418|TUBA3C|protein_coding|CODING|ENST00000360801|exon_13_19753481_19753703 . 0/1:99:233,0,215 . . 13 19753484 rs36215077 C G NON_SYNONYMOUS_CODING TUBA3C MODERATE|MISSENSE|Gtc/Ctc|V75L|450|TUBA3C|protein_coding|CODING|ENST00000400113|exon_13_19753481_19753703 . 0/1:99:233,0,215 . . 13 20411701 rs7988277 C T NON_SYNONYMOUS_CODING ZMYM5 MODERATE|MISSENSE|cGt/cAt|R378H|382|ZMYM5|protein_coding|CODING|ENST00000382905|exon_13_20411605_20411961 0/1:99:255,0,255 . 0/1:99:255,0,255 . 13 20413021 rs41292167 T C NON_SYNONYMOUS_CODING ZMYM5 MODERATE|MISSENSE|Aca/Gca|T221A|659|ZMYM5|protein_coding|CODING|ENST00000502168|exon_13_20412840_20413125 0/1:99:255,0,237 . 0/1:99:255,0,255 . 13 20413021 rs41292167 T C NON_SYNONYMOUS_CODING ZMYM5 MODERATE|MISSENSE|Aca/Gca|T231A|382|ZMYM5|protein_coding|CODING|ENST00000382905|exon_13_20412840_20413125 0/1:99:255,0,237 . 0/1:99:255,0,255 . 13 20413021 rs41292167 T C NON_SYNONYMOUS_CODING ZMYM5 MODERATE|MISSENSE|Aca/Gca|T231A|669|ZMYM5|protein_coding|CODING|ENST00000337963|exon_13_20412840_20413125 0/1:99:255,0,237 . 0/1:99:255,0,255 . 13 20425911 rs9579717 C A NON_SYNONYMOUS_CODING ZMYM5 MODERATE|MISSENSE|tGt/tTt|C127F|659|ZMYM5|protein_coding|CODING|ENST00000502168|exon_13_20425829_20426290 0/1:99:223,0,255 . 0/1:99:255,0,189 . 13 20425911 rs9579717 C A NON_SYNONYMOUS_CODING ZMYM5 MODERATE|MISSENSE|tGt/tTt|C137F|208|ZMYM5|protein_coding|CODING|ENST00000382907|exon_13_20425829_20426330 0/1:99:223,0,255 . 0/1:99:255,0,189 . 13 20425911 rs9579717 C A NON_SYNONYMOUS_CODING ZMYM5 MODERATE|MISSENSE|tGt/tTt|C137F|382|ZMYM5|protein_coding|CODING|ENST00000382905|exon_13_20425829_20426330 0/1:99:223,0,255 . 0/1:99:255,0,189 . 13 20425911 rs9579717 C A NON_SYNONYMOUS_CODING ZMYM5 MODERATE|MISSENSE|tGt/tTt|C137F|669|ZMYM5|protein_coding|CODING|ENST00000337963|exon_13_20425829_20426330 0/1:99:223,0,255 . 0/1:99:255,0,189 . 13 20425948 rs9579718 T C NON_SYNONYMOUS_CODING ZMYM5 MODERATE|MISSENSE|Ata/Gta|I115V|659|ZMYM5|protein_coding|CODING|ENST00000502168|exon_13_20425829_20426290 0/1:99:198,0,255 . 0/1:99:255,0,250 . 13 20425948 rs9579718 T C NON_SYNONYMOUS_CODING ZMYM5 MODERATE|MISSENSE|Ata/Gta|I125V|208|ZMYM5|protein_coding|CODING|ENST00000382907|exon_13_20425829_20426330 0/1:99:198,0,255 . 0/1:99:255,0,250 . 13 20425948 rs9579718 T C NON_SYNONYMOUS_CODING ZMYM5 MODERATE|MISSENSE|Ata/Gta|I125V|382|ZMYM5|protein_coding|CODING|ENST00000382905|exon_13_20425829_20426330 0/1:99:198,0,255 . 0/1:99:255,0,250 . 13 20425948 rs9579718 T C NON_SYNONYMOUS_CODING ZMYM5 MODERATE|MISSENSE|Ata/Gta|I125V|669|ZMYM5|protein_coding|CODING|ENST00000337963|exon_13_20425829_20426330 0/1:99:198,0,255 . 0/1:99:255,0,250 . 13 20763243 rs34988750 C T NON_SYNONYMOUS_CODING GJB2 MODERATE|MISSENSE|Ggc/Agc|G160S|226|GJB2|protein_coding|CODING|ENST00000382844|exon_13_20761611_20763919 . . 0/1:99:109,0,255 . 13 20763243 rs34988750 C T NON_SYNONYMOUS_CODING GJB2 MODERATE|MISSENSE|Ggc/Agc|G160S|226|GJB2|protein_coding|CODING|ENST00000382848|exon_13_20761609_20763742 . . 0/1:99:109,0,255 . 13 20763620 rs35887622 A G NON_SYNONYMOUS_CODING GJB2 MODERATE|MISSENSE|aTg/aCg|M34T|226|GJB2|protein_coding|CODING|ENST00000382844|exon_13_20761611_20763919 . . . 0/1:99:227,0,162 13 20763620 rs35887622 A G NON_SYNONYMOUS_CODING GJB2 MODERATE|MISSENSE|aTg/aCg|M34T|226|GJB2|protein_coding|CODING|ENST00000382848|exon_13_20761609_20763742 . . . 0/1:99:227,0,162 13 21189941 rs2442455 G A NON_SYNONYMOUS_CODING IFT88 MODERATE|MISSENSE|atG/atA|M246I|431|IFT88|protein_coding|CODING|ENST00000389374|exon_13_21189932_21190018 . . 0/1:99:255,0,255 0/1:99:255,0,255 13 21189941 rs2442455 G A NON_SYNONYMOUS_CODING IFT88 MODERATE|MISSENSE|atG/atA|M355I|805|IFT88|protein_coding|CODING|ENST00000537103|exon_13_21189932_21190018 . . 0/1:99:255,0,255 0/1:99:255,0,255 13 21189941 rs2442455 G A NON_SYNONYMOUS_CODING IFT88 MODERATE|MISSENSE|atG/atA|M374I|824|IFT88|protein_coding|CODING|ENST00000351808|exon_13_21189932_21190018 . . 0/1:99:255,0,255 0/1:99:255,0,255 13 21189941 rs2442455 G A NON_SYNONYMOUS_CODING IFT88 MODERATE|MISSENSE|atG/atA|M383I|795|IFT88|protein_coding|CODING|ENST00000382778|exon_13_21189932_21190018 . . 0/1:99:255,0,255 0/1:99:255,0,255 13 21189941 rs2442455 G A NON_SYNONYMOUS_CODING IFT88 MODERATE|MISSENSE|atG/atA|M383I|833|IFT88|protein_coding|CODING|ENST00000319980|exon_13_21189932_21190018 . . 0/1:99:255,0,255 0/1:99:255,0,255 13 21237413 rs17055251 G A NON_SYNONYMOUS_CODING IFT88 MODERATE|MISSENSE|Gtg/Atg|V703M|795|IFT88|protein_coding|CODING|ENST00000382778|exon_13_21237402_21237525 . . 0/1:99:255,0,255 0/1:99:211,0,255 13 21237416 rs111647114 A G NON_SYNONYMOUS_CODING IFT88 MODERATE|MISSENSE|Agg/Ggg|R704G|795|IFT88|protein_coding|CODING|ENST00000382778|exon_13_21237402_21237525 . . . 0/1:99:255,0,223 13 21729252 rs11147976 T C NON_SYNONYMOUS_CODING SKA3 MODERATE|MISSENSE|aAa/aGa|K386R|388|SKA3|protein_coding|CODING|ENST00000400018|exon_13_21727734_21729289 . 0/1:99:180,0,255 . 0/1:99:110,0,255 13 21729267 rs11147977 G A NON_SYNONYMOUS_CODING SKA3 MODERATE|MISSENSE|aCa/aTa|T381I|388|SKA3|protein_coding|CODING|ENST00000400018|exon_13_21727734_21729289 . . . 0/1:90:87,0,255 13 23910865 . C T NON_SYNONYMOUS_CODING SACS MODERATE|MISSENSE|Gaa/Aaa|E1634K|3829|SACS|protein_coding|CODING|ENST00000402364|exon_13_23902965_23915829 . 0/1:99:255,0,203 . . 13 23910865 . C T NON_SYNONYMOUS_CODING SACS MODERATE|MISSENSE|Gaa/Aaa|E2384K|4579|SACS|protein_coding|CODING|ENST00000382292|exon_13_23902965_23915829 . 0/1:99:255,0,203 . . 13 23910865 . C T NON_SYNONYMOUS_CODING SACS MODERATE|MISSENSE|Gaa/Aaa|E2384K|4579|SACS|protein_coding|CODING|ENST00000382298|exon_13_23902965_23915829 . 0/1:99:255,0,203 . . 13 24243204 rs3751362 G A NON_SYNONYMOUS_CODING TNFRSF19 MODERATE|MISSENSE|Gtc/Atc|V273I|285|TNFRSF19|protein_coding|CODING|ENST00000403372|exon_13_24242831_24243236 0/1:99:255,0,219 . . . 13 24243204 rs3751362 G A NON_SYNONYMOUS_CODING TNFRSF19 MODERATE|MISSENSE|Gtc/Atc|V405I|417|TNFRSF19|protein_coding|CODING|ENST00000248484|exon_13_24242831_24243236 0/1:99:255,0,219 . . . 13 24243204 rs3751362 G A NON_SYNONYMOUS_CODING TNFRSF19 MODERATE|MISSENSE|Gtc/Atc|V405I|417|TNFRSF19|protein_coding|CODING|ENST00000382263|exon_13_24242831_24243236 0/1:99:255,0,219 . . . 13 24243204 rs3751362 G A NON_SYNONYMOUS_CODING TNFRSF19 MODERATE|MISSENSE|Gtc/Atc|V405I|423|TNFRSF19|protein_coding|CODING|ENST00000382258|exon_13_24242831_24243412 0/1:99:255,0,219 . . . 13 24465717 rs3864970 A G NON_SYNONYMOUS_CODING C1QTNF9B MODERATE|MISSENSE|gTg/gCg|V238A|333|C1QTNF9B|protein_coding|CODING|ENST00000382137|exon_13_24465388_24466200 . . 1/1:81:176,42,0 0/1:99:117,0,144 13 24465717 rs3864970 A G NON_SYNONYMOUS_CODING C1QTNF9B MODERATE|MISSENSE|gTg/gCg|V238A|333|C1QTNF9B|protein_coding|CODING|ENST00000382140|exon_13_24465428_24466200 . . 1/1:81:176,42,0 0/1:99:117,0,144 13 24798506 rs41314440 C T NON_SYNONYMOUS_CODING SPATA13 MODERATE|MISSENSE|cCc/cTc|P480L|1277|SPATA13|protein_coding|CODING|ENST00000382108|exon_13_24796957_24798720 . 0/1:99:212,0,255 . . 13 24895805 rs4589405 G A NON_SYNONYMOUS_CODING C1QTNF9 MODERATE|MISSENSE|Gtg/Atg|V301M|333|C1QTNF9|protein_coding|CODING|ENST00000332018|exon_13_24895134_24896673 . 0/1:99:226,0,255 . . 13 24895805 rs4589405 G A NON_SYNONYMOUS_CODING C1QTNF9 MODERATE|MISSENSE|Gtg/Atg|V301M|333|C1QTNF9|protein_coding|CODING|ENST00000382071|exon_13_24895134_24896673 . 0/1:99:226,0,255 . . 13 25023936 rs9581043 C T NON_SYNONYMOUS_CODING PARP4 MODERATE|MISSENSE|Gtc/Atc|V1012I|1724|PARP4|protein_coding|CODING|ENST00000381989|exon_13_25023856_25023955 0/1:99:255,0,223 . . . 13 25029295 rs7140044 C T NON_SYNONYMOUS_CODING PARP4 MODERATE|MISSENSE|aGt/aAt|S873N|1724|PARP4|protein_coding|CODING|ENST00000381989|exon_13_25029155_25029350 0/1:99:241,0,255 . . . 13 25267017 rs56291145 A C NON_SYNONYMOUS_CODING ATP12A MODERATE|MISSENSE|Aat/Cat|N454H|1039|ATP12A|protein_coding|CODING|ENST00000381946|exon_13_25266925_25267034 . . 0/1:99:253,0,255 . 13 25267017 rs56291145 A C NON_SYNONYMOUS_CODING ATP12A MODERATE|MISSENSE|Aat/Cat|N460H|1045|ATP12A|protein_coding|CODING|ENST00000218548|exon_13_25266925_25267034 . . 0/1:99:253,0,255 . 13 25367282 rs1451568 A C NON_SYNONYMOUS_CODING RNF17 MODERATE|MISSENSE|aaA/aaC|K205N|1067|RNF17|protein_coding|CODING|ENST00000429047|exon_13_25367180_25367484 . . 1/1:99:255,132,0 . 13 25367282 rs1451568 A C NON_SYNONYMOUS_CODING RNF17 MODERATE|MISSENSE|aaA/aaC|K346N|1581|RNF17|protein_coding|CODING|ENST00000381921|exon_13_25367180_25367484 . . 1/1:99:255,132,0 . 13 25367282 rs1451568 A C NON_SYNONYMOUS_CODING RNF17 MODERATE|MISSENSE|aaA/aaC|K346N|1623|RNF17|protein_coding|CODING|ENST00000255324|exon_13_25367180_25367484 . . 1/1:99:255,132,0 . 13 25367282 rs1451568 A C NON_SYNONYMOUS_CODING RNF17 MODERATE|MISSENSE|aaA/aaC|K346N|449|RNF17|protein_coding|CODING|ENST00000255326|exon_13_25367180_25367484 . . 1/1:99:255,132,0 . 13 25367282 rs1451568 A C NON_SYNONYMOUS_CODING RNF17 MODERATE|MISSENSE|aaA/aaC|K347N|654|RNF17|protein_coding|CODING|ENST00000255325|exon_13_25367180_25367484 . . 1/1:99:255,132,0 . 13 25479541 rs17402892 A C NON_SYNONYMOUS_CODING CENPJ MODERATE|MISSENSE|Tca/Gca|S879A|1086|CENPJ|protein_coding|CODING|ENST00000545981|exon_13_25479484_25481098 . 0/1:99:255,0,255 . 0/1:99:192,0,255 13 25479541 rs17402892 A C NON_SYNONYMOUS_CODING CENPJ MODERATE|MISSENSE|Tca/Gca|S879A|1136|CENPJ|protein_coding|CODING|ENST00000445729|exon_13_25479484_25481098 . 0/1:99:255,0,255 . 0/1:99:192,0,255 13 25479541 rs17402892 A C NON_SYNONYMOUS_CODING CENPJ MODERATE|MISSENSE|Tca/Gca|S879A|1338|CENPJ|protein_coding|CODING|ENST00000381884|exon_13_25479484_25481098 . 0/1:99:255,0,255 . 0/1:99:192,0,255 13 25486911 rs9511510 G T NON_SYNONYMOUS_CODING CENPJ MODERATE|MISSENSE|Cct/Act|P85T|1086|CENPJ|protein_coding|CODING|ENST00000545981|exon_13_25486720_25487229 . 0/1:99:255,0,255 . 0/1:99:251,0,255 13 25486911 rs9511510 G T NON_SYNONYMOUS_CODING CENPJ MODERATE|MISSENSE|Cct/Act|P85T|1136|CENPJ|protein_coding|CODING|ENST00000445729|exon_13_25486720_25487229 . 0/1:99:255,0,255 . 0/1:99:251,0,255 13 25486911 rs9511510 G T NON_SYNONYMOUS_CODING CENPJ MODERATE|MISSENSE|Cct/Act|P85T|1338|CENPJ|protein_coding|CODING|ENST00000381884|exon_13_25486720_25487229 . 0/1:99:255,0,255 . 0/1:99:251,0,255 13 26624935 rs111516934 C T NON_SYNONYMOUS_CODING SHISA2 MODERATE|MISSENSE|gGc/gAc|G60D|295|SHISA2|protein_coding|CODING|ENST00000319420|exon_13_26624780_26625198 0/1:99:201,0,227 1/1:99:255,69,0 . . 13 27333463 rs141417138 A C NON_SYNONYMOUS_CODING GPR12 MODERATE|MISSENSE|Tcc/Gcc|S168A|334|GPR12|protein_coding|CODING|ENST00000381436|exon_13_27332447_27334427 . 0/1:99:239,0,173 . . 13 27333463 rs141417138 A C NON_SYNONYMOUS_CODING GPR12 MODERATE|MISSENSE|Tcc/Gcc|S168A|334|GPR12|protein_coding|CODING|ENST00000405846|exon_13_27329341_27333979 . 0/1:99:239,0,173 . . 13 28239999 rs118191175 A G NON_SYNONYMOUS_CODING POLR1D MODERATE|MISSENSE|cAc/cGc|H93R|122|POLR1D|protein_coding|CODING|ENST00000399697|exon_13_28239823_28241548 . . 0/1:99:252,0,162 . 13 28562732 . C T NON_SYNONYMOUS_CODING PRHOXNB MODERATE|MISSENSE|Gtg/Atg|V15M|173|PRHOXNB|protein_coding|CODING|ENST00000332715|exon_13_28562600_28562774 . . 0/1:99:212,0,255 . 13 29287552 rs141294918 C T NON_SYNONYMOUS_CODING SLC46A3 MODERATE|MISSENSE|Gtt/Att|V109I|461|SLC46A3|protein_coding|CODING|ENST00000266943|exon_13_29286817_29287687 0/1:99:255,0,255 . . . 13 29287552 rs141294918 C T NON_SYNONYMOUS_CODING SLC46A3 MODERATE|MISSENSE|Gtt/Att|V109I|463|SLC46A3|protein_coding|CODING|ENST00000380814|exon_13_29286817_29287687 0/1:99:255,0,255 . . . 13 31233231 rs143197066 C T NON_SYNONYMOUS_CODING USPL1 MODERATE|MISSENSE|cCa/cTa|P1006L|1092|USPL1|protein_coding|CODING|ENST00000255304|exon_13_31231611_31233686 0/1:99:255,0,255 . . . 13 31729776 rs41292149 T G NON_SYNONYMOUS_CODING HSPH1 MODERATE|MISSENSE|Aac/Cac|N112H|639|HSPH1|protein_coding|CODING|ENST00000438061|exon_13_31729651_31729791 . 0/1:99:255,0,255 . . 13 31729776 rs41292149 T G NON_SYNONYMOUS_CODING HSPH1 MODERATE|MISSENSE|Aac/Cac|N61H|814|HSPH1|protein_coding|CODING|ENST00000380405|exon_13_31729651_31729791 . 0/1:99:255,0,255 . . 13 31729776 rs41292149 T G NON_SYNONYMOUS_CODING HSPH1 MODERATE|MISSENSE|Aac/Cac|N61H|817|HSPH1|protein_coding|CODING|ENST00000380406|exon_13_31729651_31729791 . 0/1:99:255,0,255 . . 13 31729776 rs41292149 T G NON_SYNONYMOUS_CODING HSPH1 MODERATE|MISSENSE|Aac/Cac|N61H|858|HSPH1|protein_coding|CODING|ENST00000320027|exon_13_31729651_31729791 . 0/1:99:255,0,255 . . 13 31729776 rs41292149 T G NON_SYNONYMOUS_CODING HSPH1 MODERATE|MISSENSE|Aac/Cac|N63H|860|HSPH1|protein_coding|CODING|ENST00000445273|exon_13_31729651_31729791 . 0/1:99:255,0,255 . . 13 31891743 rs34638481 G A NON_SYNONYMOUS_CODING B3GALTL MODERATE|MISSENSE|Ggc/Agc|G369S|498|B3GALTL|protein_coding|CODING|ENST00000343307|exon_13_31891703_31891822 . . . 0/1:99:215,0,255 13 32653027 . C T NON_SYNONYMOUS_CODING FRY MODERATE|MISSENSE|Cac/Tac|H40Y|149|FRY|protein_coding|CODING|ENST00000436046|exon_13_32652971_32653170 . . . 0/1:99:241,0,255 13 32653027 . C T NON_SYNONYMOUS_CODING FRY MODERATE|MISSENSE|Cac/Tac|H43Y|3013|FRY|protein_coding|CODING|ENST00000380250|exon_13_32652971_32653170 . . . 0/1:99:241,0,255 13 32906766 rs41293475 C T NON_SYNONYMOUS_CODING BRCA2 MODERATE|MISSENSE|tCc/tTc|S382F|601|BRCA2|protein_coding|CODING|ENST00000530893|exon_13_32906409_32907428 . . 0/1:99:255,0,243 . 13 32906766 rs41293475 C T NON_SYNONYMOUS_CODING BRCA2 MODERATE|MISSENSE|tCc/tTc|S384F|3418|BRCA2|protein_coding|CODING|ENST00000380152|exon_13_32906409_32907524 . . 0/1:99:255,0,243 . 13 32906766 rs41293475 C T NON_SYNONYMOUS_CODING BRCA2 MODERATE|MISSENSE|tCc/tTc|S384F|3418|BRCA2|protein_coding|CODING|ENST00000544455|exon_13_32906409_32907524 . . 0/1:99:255,0,243 . 13 32937521 rs28897749 G A NON_SYNONYMOUS_CODING BRCA2 MODERATE|MISSENSE|Gtt/Att|V2728I|3418|BRCA2|protein_coding|CODING|ENST00000380152|exon_13_32937316_32937670 . . 0/1:99:255,0,239 . 13 32937521 rs28897749 G A NON_SYNONYMOUS_CODING BRCA2 MODERATE|MISSENSE|Gtt/Att|V2728I|3418|BRCA2|protein_coding|CODING|ENST00000544455|exon_13_32937316_32937670 . . 0/1:99:255,0,239 . 13 33347337 . C T NON_SYNONYMOUS_CODING PDS5B MODERATE|MISSENSE|Cgc/Tgc|R1395C|1447|PDS5B|protein_coding|CODING|ENST00000315596|exon_13_33347327_33347462 . . . 0/1:99:255,0,255 13 33628138 rs9536314 T G NON_SYNONYMOUS_CODING KL MODERATE|MISSENSE|Ttt/Gtt|F352V|1012|KL|protein_coding|CODING|ENST00000380099|exon_13_33627904_33628414 0/1:99:255,0,241 1/1:99:255,99,0 0/1:99:254,0,255 . 13 33628138 rs9536314 T G NON_SYNONYMOUS_CODING KL MODERATE|MISSENSE|Ttt/Gtt|F45V|242|KL|protein_coding|CODING|ENST00000426690|exon_13_33627904_33628414 0/1:99:255,0,241 1/1:99:255,99,0 0/1:99:254,0,255 . 13 33628193 rs9527025 G C NON_SYNONYMOUS_CODING KL MODERATE|MISSENSE|tGc/tCc|C370S|1012|KL|protein_coding|CODING|ENST00000380099|exon_13_33627904_33628414 0/1:99:255,0,250 1/1:99:255,126,0 0/1:99:219,0,255 . 13 33628193 rs9527025 G C NON_SYNONYMOUS_CODING KL MODERATE|MISSENSE|tGc/tCc|C63S|242|KL|protein_coding|CODING|ENST00000426690|exon_13_33627904_33628414 0/1:99:255,0,250 1/1:99:255,126,0 0/1:99:219,0,255 . 13 35734141 rs193066744 G A NON_SYNONYMOUS_CODING NBEA MODERATE|MISSENSE|cGa/cAa|R1278Q|2943|NBEA|protein_coding|CODING|ENST00000379939|exon_13_35733153_35734169 . 0/1:99:255,0,255 . . 13 35734141 rs193066744 G A NON_SYNONYMOUS_CODING NBEA MODERATE|MISSENSE|cGa/cAa|R1278Q|2946|NBEA|protein_coding|CODING|ENST00000310336|exon_13_35733153_35734169 . 0/1:99:255,0,255 . . 13 35734141 rs193066744 G A NON_SYNONYMOUS_CODING NBEA MODERATE|MISSENSE|cGa/cAa|R1278Q|2946|NBEA|protein_coding|CODING|ENST00000400445|exon_13_35733153_35734169 . 0/1:99:255,0,255 . . 13 35734141 rs193066744 G A NON_SYNONYMOUS_CODING NBEA MODERATE|MISSENSE|cGa/cAa|R1278Q|2946|NBEA|protein_coding|CODING|ENST00000540320|exon_13_35733153_35734169 . 0/1:99:255,0,255 . . 13 36886360 rs202118286 A C NON_SYNONYMOUS_CODING SPG20 MODERATE|MISSENSE|gTc/gGc|V552G|666|SPG20|protein_coding|CODING|ENST00000355182|exon_13_36886282_36886372 0/1:99:255,0,255 . . . 13 36886360 rs202118286 A C NON_SYNONYMOUS_CODING SPG20 MODERATE|MISSENSE|gTc/gGc|V552G|666|SPG20|protein_coding|CODING|ENST00000423217|exon_13_36886282_36886372 0/1:99:255,0,255 . . . 13 36886360 rs202118286 A C NON_SYNONYMOUS_CODING SPG20 MODERATE|MISSENSE|gTc/gGc|V552G|666|SPG20|protein_coding|CODING|ENST00000438666|exon_13_36886282_36886372 0/1:99:255,0,255 . . . 13 36886360 rs202118286 A C NON_SYNONYMOUS_CODING SPG20 MODERATE|MISSENSE|gTc/gGc|V552G|666|SPG20|protein_coding|CODING|ENST00000451493|exon_13_36886282_36886372 0/1:99:255,0,255 . . . 13 37393904 rs193240312 T C NON_SYNONYMOUS_CODING RFXAP MODERATE|MISSENSE|aTg/aCg|M137T|272|RFXAP|protein_coding|CODING|ENST00000255476|exon_13_37393361_37394094 . 0/1:99:96,0,211 . . 13 38211105 rs73184536 T C NON_SYNONYMOUS_CODING TRPC4 MODERATE|MISSENSE|Ata/Gta|I784V|804|TRPC4|protein_coding|CODING|ENST00000338947|exon_13_38210778_38211762 0/1:99:206,0,255 . . . 13 38211105 rs73184536 T C NON_SYNONYMOUS_CODING TRPC4 MODERATE|MISSENSE|Ata/Gta|I784V|804|TRPC4|protein_coding|CODING|ENST00000379679|exon_13_38210980_38211762 0/1:99:206,0,255 . . . 13 38211105 rs73184536 T C NON_SYNONYMOUS_CODING TRPC4 MODERATE|MISSENSE|Ata/Gta|I808V|828|TRPC4|protein_coding|CODING|ENST00000379673|exon_13_38211002_38211368 0/1:99:206,0,255 . . . 13 38211105 rs73184536 T C NON_SYNONYMOUS_CODING TRPC4 MODERATE|MISSENSE|Ata/Gta|I816V|836|TRPC4|protein_coding|CODING|ENST00000355779|exon_13_38211002_38211362 0/1:99:206,0,255 . . . 13 38211105 rs73184536 T C NON_SYNONYMOUS_CODING TRPC4 MODERATE|MISSENSE|Ata/Gta|I816V|836|TRPC4|protein_coding|CODING|ENST00000447043|exon_13_38211040_38211366 0/1:99:206,0,255 . . . 13 38211105 rs73184536 T C NON_SYNONYMOUS_CODING TRPC4 MODERATE|MISSENSE|Ata/Gta|I873V|893|TRPC4|protein_coding|CODING|ENST00000358477|exon_13_38211002_38211368 0/1:99:206,0,255 . . . 13 38211105 rs73184536 T C NON_SYNONYMOUS_CODING TRPC4 MODERATE|MISSENSE|Ata/Gta|I957V|977|TRPC4|protein_coding|CODING|ENST00000379705|exon_13_38210773_38211762 0/1:99:206,0,255 . . . 13 38211105 rs73184536 T C NON_SYNONYMOUS_CODING TRPC4 MODERATE|MISSENSE|Ata/Gta|I962V|982|TRPC4|protein_coding|CODING|ENST00000379681|exon_13_38210778_38211762 0/1:99:206,0,255 . . . 13 39264690 rs2496425 T C NON_SYNONYMOUS_CODING FREM2 MODERATE|MISSENSE|tTt/tCt|F1070S|3169|FREM2|protein_coding|CODING|ENST00000280481|exon_13_39261266_39266654 0/1:99:255,0,255 . . 0/1:99:255,0,255 13 39422624 rs9548505 C T NON_SYNONYMOUS_CODING FREM2 MODERATE|MISSENSE|Cgt/Tgt|R2066C|3169|FREM2|protein_coding|CODING|ENST00000280481|exon_13_39422598_39422807 . . . 0/1:99:178,0,255 13 39424253 rs9548506 C G NON_SYNONYMOUS_CODING FREM2 MODERATE|MISSENSE|aCt/aGt|T2153S|3169|FREM2|protein_coding|CODING|ENST00000280481|exon_13_39424175_39424372 . . . 0/1:99:255,0,255 13 41240106 rs34733279 C T NON_SYNONYMOUS_CODING FOXO1 MODERATE|MISSENSE|Gac/Aac|D82N|655|FOXO1|protein_coding|CODING|ENST00000379561|exon_13_41239720_41240734 0/1:70:149,0,67 . . . 13 41639171 rs141098047 G A NON_SYNONYMOUS_CODING WBP4 MODERATE|MISSENSE|aGa/aAa|R32K|376|WBP4|protein_coding|CODING|ENST00000379487|exon_13_41639152_41639214 . . . 0/1:99:255,0,255 13 42803263 rs17646069 T C NON_SYNONYMOUS_CODING DGKH MODERATE|MISSENSE|gTg/gCg|V1065A|1084|DGKH|protein_coding|CODING|ENST00000536612|exon_13_42803235_42803386 0/1:99:255,0,255 . . . 13 42803263 rs17646069 T C NON_SYNONYMOUS_CODING DGKH MODERATE|MISSENSE|gTg/gCg|V1081A|1100|DGKH|protein_coding|CODING|ENST00000379274|exon_13_42803235_42803888 0/1:99:255,0,255 . . . 13 42803263 rs17646069 T C NON_SYNONYMOUS_CODING DGKH MODERATE|MISSENSE|gTg/gCg|V1201A|1220|DGKH|protein_coding|CODING|ENST00000337343|exon_13_42803235_42803886 0/1:99:255,0,255 . . . 13 44430719 . T C NON_SYNONYMOUS_CODING CCDC122 MODERATE|MISSENSE|Atc/Gtc|I238V|284|CCDC122|protein_coding|CODING|ENST00000281508|exon_13_44430329_44430758 . 0/1:99:189,0,255 . . 13 46154749 rs11618506 A G NON_SYNONYMOUS_CODING FAM194B MODERATE|MISSENSE|cTg/cCg|L303P|696|FAM194B|protein_coding|CODING|ENST00000298738|exon_13_46154738_46154800 0/1:99:255,0,222 1/1:99:255,117,0 . . 13 46170621 rs17066954 A T NON_SYNONYMOUS_CODING FAM194B MODERATE|MISSENSE|Tca/Aca|S174T|696|FAM194B|protein_coding|CODING|ENST00000298738|exon_13_46170504_46171198 0/1:99:255,0,255 1/1:99:255,90,0 . . 13 46358077 . T C NON_SYNONYMOUS_CODING SIAH3 MODERATE|MISSENSE|cAc/cGc|H84R|269|SIAH3|protein_coding|CODING|ENST00000400405|exon_13_46354405_46358192 . . 0/1:99:136,0,177 . 13 46801970 rs7338697 A G NON_SYNONYMOUS_CODING LRRC63 MODERATE|MISSENSE|Atg/Gtg|M137V|505|LRRC63|protein_coding|CODING|ENST00000378805|exon_13_46801647_46802324 0/1:99:255,0,255 . . . 13 46801970 rs7338697 A G NON_SYNONYMOUS_CODING LRRC63 MODERATE|MISSENSE|Atg/Gtg|M137V|581|LRRC63|protein_coding|CODING|ENST00000446175|exon_13_46801647_46802324 0/1:99:255,0,255 . . . 13 46802177 rs6561303 A G NON_SYNONYMOUS_CODING LRRC63 MODERATE|MISSENSE|Atg/Gtg|M206V|505|LRRC63|protein_coding|CODING|ENST00000378805|exon_13_46801647_46802324 0/1:99:255,0,255 . . . 13 46802177 rs6561303 A G NON_SYNONYMOUS_CODING LRRC63 MODERATE|MISSENSE|Atg/Gtg|M206V|581|LRRC63|protein_coding|CODING|ENST00000446175|exon_13_46801647_46802324 0/1:99:255,0,255 . . . 13 47345630 rs15303 C T NON_SYNONYMOUS_CODING ESD MODERATE|MISSENSE|gGt/gAt|G228D|253|ESD|protein_coding|CODING|ENST00000378697|exon_13_47345470_47345631 . . 0/1:99:255,0,255 . 13 47345630 rs15303 C T NON_SYNONYMOUS_CODING ESD MODERATE|MISSENSE|gGt/gAt|G257D|282|ESD|protein_coding|CODING|ENST00000378720|exon_13_47345391_47345631 . . 0/1:99:255,0,255 . 13 47409034 rs6314 G A NON_SYNONYMOUS_CODING HTR2A MODERATE|MISSENSE|Cat/Tat|H368Y|387|HTR2A|protein_coding|CODING|ENST00000543956|exon_13_47407513_47409774 0/1:99:164,0,241 . . 0/1:99:240,0,199 13 47409034 rs6314 G A NON_SYNONYMOUS_CODING HTR2A MODERATE|MISSENSE|Cat/Tat|H452Y|471|HTR2A|protein_coding|CODING|ENST00000378688|exon_13_47407513_47409774 0/1:99:164,0,241 . . 0/1:99:240,0,199 13 47409034 rs6314 G A NON_SYNONYMOUS_CODING HTR2A MODERATE|MISSENSE|Cat/Tat|H452Y|471|HTR2A|protein_coding|CODING|ENST00000542664|exon_13_47407513_47409774 0/1:99:164,0,241 . . 0/1:99:240,0,199 13 49775997 rs45604939 A G NON_SYNONYMOUS_CODING FNDC3A MODERATE|MISSENSE|Aca/Gca|T1017A|1198|FNDC3A|protein_coding|CODING|ENST00000492622|exon_13_49775936_49776102 . . 0/1:99:190,0,255 . 13 49775997 rs45604939 A G NON_SYNONYMOUS_CODING FNDC3A MODERATE|MISSENSE|Aca/Gca|T1017A|1198|FNDC3A|protein_coding|CODING|ENST00000541916|exon_13_49775936_49776102 . . 0/1:99:190,0,255 . 13 49775997 rs45604939 A G NON_SYNONYMOUS_CODING FNDC3A MODERATE|MISSENSE|Aca/Gca|T953A|1134|FNDC3A|protein_coding|CODING|ENST00000337156|exon_13_49775936_49776102 . . 0/1:99:190,0,255 . 13 49775997 rs45604939 A G NON_SYNONYMOUS_CODING FNDC3A MODERATE|MISSENSE|Aca/Gca|T961A|1142|FNDC3A|protein_coding|CODING|ENST00000398316|exon_13_49775936_49776102 . . 0/1:99:190,0,255 . 13 49795522 rs188964487 G A NON_SYNONYMOUS_CODING MLNR MODERATE|MISSENSE|cGc/cAc|R350H|386|MLNR|protein_coding|CODING|ENST00000398307|exon_13_49794474_49795525 0/1:99:140,0,166 . . . 13 50204975 rs147120792 C T NON_SYNONYMOUS_CODING ARL11 MODERATE|MISSENSE|cCg/cTg|P131L|196|ARL11|protein_coding|CODING|ENST00000282026|exon_13_50204566_50208008 0/1:99:216,0,255 . 0/1:99:220,0,165 . 13 50242525 rs180838292 T C NON_SYNONYMOUS_CODING EBPL MODERATE|MISSENSE|cAt/cGt|H141R|152|EBPL|protein_coding|CODING|ENST00000378268|exon_13_50242306_50242705 0/1:69:66,0,255 . . . 13 50242528 rs184666784 T C NON_SYNONYMOUS_CODING EBPL MODERATE|MISSENSE|cAc/cGc|H140R|152|EBPL|protein_coding|CODING|ENST00000378268|exon_13_50242306_50242705 0/1:59:56,0,254 . . . 13 50242535 rs143959106 C A NON_SYNONYMOUS_CODING EBPL MODERATE|MISSENSE|Ggg/Tgg|G138W|152|EBPL|protein_coding|CODING|ENST00000378268|exon_13_50242306_50242705 0/1:78:75,0,253 . . . 13 52603241 rs3742290 A G NON_SYNONYMOUS_CODING UTP14C MODERATE|MISSENSE|Act/Gct|T101A|766|UTP14C|protein_coding|CODING|ENST00000521776|exon_13_52602455_52607701 . 0/1:99:255,0,255 . 0/1:99:220,0,255 13 52603896 rs17402034 G A NON_SYNONYMOUS_CODING UTP14C MODERATE|MISSENSE|cGc/cAc|R319H|766|UTP14C|protein_coding|CODING|ENST00000521776|exon_13_52602455_52607701 . 0/1:99:234,0,182 . . 13 52676275 rs34756139 T G NON_SYNONYMOUS_CODING NEK5 MODERATE|MISSENSE|Aaa/Caa|K255Q|708|NEK5|protein_coding|CODING|ENST00000355568|exon_13_52676228_52676428 . 0/1:99:255,0,255 . 0/1:99:255,0,204 13 52951802 rs9536041 T C NON_SYNONYMOUS_CODING THSD1 MODERATE|MISSENSE|aAg/aGg|K389R|473|THSD1|protein_coding|CODING|ENST00000544466|exon_13_52951305_52952924 . . 0/1:99:199,0,255 . 13 52951802 rs9536041 T C NON_SYNONYMOUS_CODING THSD1 MODERATE|MISSENSE|aAg/aGg|K715R|799|THSD1|protein_coding|CODING|ENST00000349258|exon_13_52951305_52952924 . . 0/1:99:199,0,255 . 13 52951802 rs9536041 T C NON_SYNONYMOUS_CODING THSD1 MODERATE|MISSENSE|aAg/aGg|K768R|852|THSD1|protein_coding|CODING|ENST00000258613|exon_13_52951322_52952924 . . 0/1:99:199,0,255 . 13 52971517 rs41292808 C T NON_SYNONYMOUS_CODING THSD1 MODERATE|MISSENSE|Gaa/Aaa|E291K|427|THSD1|protein_coding|CODING|ENST00000378095|exon_13_52971367_52972329 . . . 0/1:99:254,0,255 13 52971517 rs41292808 C T NON_SYNONYMOUS_CODING THSD1 MODERATE|MISSENSE|Gaa/Aaa|E291K|799|THSD1|protein_coding|CODING|ENST00000349258|exon_13_52971367_52972329 . . . 0/1:99:254,0,255 13 52971517 rs41292808 C T NON_SYNONYMOUS_CODING THSD1 MODERATE|MISSENSE|Gaa/Aaa|E291K|852|THSD1|protein_coding|CODING|ENST00000258613|exon_13_52971367_52972329 . . . 0/1:99:254,0,255 13 52971718 rs9536062 G C NON_SYNONYMOUS_CODING THSD1 MODERATE|MISSENSE|Cga/Gga|R224G|427|THSD1|protein_coding|CODING|ENST00000378095|exon_13_52971367_52972329 . . 0/1:99:255,0,244 . 13 52971718 rs9536062 G C NON_SYNONYMOUS_CODING THSD1 MODERATE|MISSENSE|Cga/Gga|R224G|799|THSD1|protein_coding|CODING|ENST00000349258|exon_13_52971367_52972329 . . 0/1:99:255,0,244 . 13 52971718 rs9536062 G C NON_SYNONYMOUS_CODING THSD1 MODERATE|MISSENSE|Cga/Gga|R224G|852|THSD1|protein_coding|CODING|ENST00000258613|exon_13_52971367_52972329 . . 0/1:99:255,0,244 . 13 53035665 rs35975899 T A NON_SYNONYMOUS_CODING CKAP2 MODERATE|MISSENSE|aTg/aAg|M187K|634|CKAP2|protein_coding|CODING|ENST00000490903|exon_13_53035193_53036061 . . 0/1:99:255,0,255 . 13 53035665 rs35975899 T A NON_SYNONYMOUS_CODING CKAP2 MODERATE|MISSENSE|aTg/aAg|M235K|494|CKAP2|protein_coding|CODING|ENST00000378034|exon_13_53035193_53036061 . . 0/1:99:255,0,255 . 13 53035665 rs35975899 T A NON_SYNONYMOUS_CODING CKAP2 MODERATE|MISSENSE|aTg/aAg|M235K|682|CKAP2|protein_coding|CODING|ENST00000258607|exon_13_53035193_53036061 . . 0/1:99:255,0,255 . 13 53035665 rs35975899 T A NON_SYNONYMOUS_CODING CKAP2 MODERATE|MISSENSE|aTg/aAg|M236K|494|CKAP2|protein_coding|CODING|ENST00000398044|exon_13_53035193_53036061 . . 0/1:99:255,0,255 . 13 53035665 rs35975899 T A NON_SYNONYMOUS_CODING CKAP2 MODERATE|MISSENSE|aTg/aAg|M236K|683|CKAP2|protein_coding|CODING|ENST00000378037|exon_13_53035193_53036061 . . 0/1:99:255,0,255 . 13 53286950 rs7330220 C T NON_SYNONYMOUS_CODING LECT1 MODERATE|MISSENSE|Gta/Ata|V175I|333|LECT1|protein_coding|CODING|ENST00000448904|exon_13_53286851_53287004 . . . 0/1:99:234,0,255 13 53286950 rs7330220 C T NON_SYNONYMOUS_CODING LECT1 MODERATE|MISSENSE|Gta/Ata|V175I|334|LECT1|protein_coding|CODING|ENST00000377962|exon_13_53286851_53287004 . . . 0/1:99:234,0,255 13 53286950 rs7330220 C T NON_SYNONYMOUS_CODING LECT1 MODERATE|MISSENSE|Gta/Ata|V97I|128|LECT1|protein_coding|CODING|ENST00000431550|exon_13_53286851_53287004 . . . 0/1:99:234,0,255 13 60545182 rs111260336 G A NON_SYNONYMOUS_CODING DIAPH3 MODERATE|MISSENSE|cCg/cTg|P325L|849|DIAPH3|protein_coding|CODING|ENST00000267214|exon_13_60544986_60545294 . 0/1:99:249,0,235 . 0/1:99:182,0,156 13 60545182 rs111260336 G A NON_SYNONYMOUS_CODING DIAPH3 MODERATE|MISSENSE|cCg/cTg|P518L|1123|DIAPH3|protein_coding|CODING|ENST00000400319|exon_13_60544986_60545294 . 0/1:99:249,0,235 . 0/1:99:182,0,156 13 60545182 rs111260336 G A NON_SYNONYMOUS_CODING DIAPH3 MODERATE|MISSENSE|cCg/cTg|P518L|1123|DIAPH3|protein_coding|CODING|ENST00000400329|exon_13_60544986_60545294 . 0/1:99:249,0,235 . 0/1:99:182,0,156 13 60545182 rs111260336 G A NON_SYNONYMOUS_CODING DIAPH3 MODERATE|MISSENSE|cCg/cTg|P542L|1147|DIAPH3|protein_coding|CODING|ENST00000400320|exon_13_60544986_60545294 . 0/1:99:249,0,235 . 0/1:99:182,0,156 13 60545182 rs111260336 G A NON_SYNONYMOUS_CODING DIAPH3 MODERATE|MISSENSE|cCg/cTg|P542L|1147|DIAPH3|protein_coding|CODING|ENST00000413168|exon_13_60544986_60545294 . 0/1:99:249,0,235 . 0/1:99:182,0,156 13 60545182 rs111260336 G A NON_SYNONYMOUS_CODING DIAPH3 MODERATE|MISSENSE|cCg/cTg|P577L|1182|DIAPH3|protein_coding|CODING|ENST00000377908|exon_13_60544986_60545294 . 0/1:99:249,0,235 . 0/1:99:182,0,156 13 60545182 rs111260336 G A NON_SYNONYMOUS_CODING DIAPH3 MODERATE|MISSENSE|cCg/cTg|P577L|1182|DIAPH3|protein_coding|CODING|ENST00000400327|exon_13_60544986_60545294 . 0/1:99:249,0,235 . 0/1:99:182,0,156 13 60545182 rs111260336 G A NON_SYNONYMOUS_CODING DIAPH3 MODERATE|MISSENSE|cCg/cTg|P588L|1016|DIAPH3|protein_coding|CODING|ENST00000453990|exon_13_60544986_60545294 . 0/1:99:249,0,235 . 0/1:99:182,0,156 13 60545182 rs111260336 G A NON_SYNONYMOUS_CODING DIAPH3 MODERATE|MISSENSE|cCg/cTg|P588L|1112|DIAPH3|protein_coding|CODING|ENST00000267215|exon_13_60544986_60545294 . 0/1:99:249,0,235 . 0/1:99:182,0,156 13 60545182 rs111260336 G A NON_SYNONYMOUS_CODING DIAPH3 MODERATE|MISSENSE|cCg/cTg|P588L|1193|DIAPH3|protein_coding|CODING|ENST00000400324|exon_13_60544986_60545294 . 0/1:99:249,0,235 . 0/1:99:182,0,156 13 60545182 rs111260336 G A NON_SYNONYMOUS_CODING DIAPH3 MODERATE|MISSENSE|cCg/cTg|P588L|1193|DIAPH3|protein_coding|CODING|ENST00000400330|exon_13_60544986_60545294 . 0/1:99:249,0,235 . 0/1:99:182,0,156 13 61989175 rs3812874 G T NON_SYNONYMOUS_CODING PCDH20 MODERATE|MISSENSE|agC/agA|S39R|951|PCDH20|protein_coding|CODING|ENST00000409186|exon_13_61989160_61989627 . . . 0/1:66:63,0,207 13 61989175 rs3812874 G T NON_SYNONYMOUS_CODING PCDH20 MODERATE|MISSENSE|agC/agA|S39R|951|PCDH20|protein_coding|CODING|ENST00000409204|exon_13_61989160_61989655 . . . 0/1:66:63,0,207 13 73317711 rs189819729 A G NON_SYNONYMOUS_CODING BORA MODERATE|MISSENSE|aAg/aGg|K142R|559|BORA|protein_coding|CODING|ENST00000390667|exon_13_73317675_73317740 . . 0/1:99:255,0,255 . 13 73317711 rs189819729 A G NON_SYNONYMOUS_CODING BORA MODERATE|MISSENSE|aAg/aGg|K72R|489|BORA|protein_coding|CODING|ENST00000377815|exon_13_73317675_73317740 . . 0/1:99:255,0,255 . 13 76334893 rs73227964 A G NON_SYNONYMOUS_CODING LMO7 MODERATE|MISSENSE|Agg/Ggg|R7G|1275|LMO7|protein_coding|CODING|ENST00000526202|exon_13_76334795_76334967 . . 0/1:99:255,0,192 . 13 76383307 rs202172099 A G NON_SYNONYMOUS_CODING LMO7 MODERATE|MISSENSE|tAt/tGt|Y311C|1044|LMO7|protein_coding|CODING|ENST00000377499|exon_13_76383290_76383319 0/1:99:255,0,244 . . . 13 76383307 rs202172099 A G NON_SYNONYMOUS_CODING LMO7 MODERATE|MISSENSE|tAt/tGt|Y363C|1349|LMO7|protein_coding|CODING|ENST00000341547|exon_13_76383290_76383319 0/1:99:255,0,244 . . . 13 76383307 rs202172099 A G NON_SYNONYMOUS_CODING LMO7 MODERATE|MISSENSE|tAt/tGt|Y412C|1385|LMO7|protein_coding|CODING|ENST00000465261|exon_13_76383290_76383319 0/1:99:255,0,244 . . . 13 76383307 rs202172099 A G NON_SYNONYMOUS_CODING LMO7 MODERATE|MISSENSE|tAt/tGt|Y412C|1398|LMO7|protein_coding|CODING|ENST00000321797|exon_13_76383290_76383319 0/1:99:255,0,244 . . . 13 76383307 rs202172099 A G NON_SYNONYMOUS_CODING LMO7 MODERATE|MISSENSE|tAt/tGt|Y697C|1614|LMO7|protein_coding|CODING|ENST00000377534|exon_13_76383290_76383319 0/1:99:255,0,244 . . . 13 76383307 rs202172099 A G NON_SYNONYMOUS_CODING LMO7 MODERATE|MISSENSE|tAt/tGt|Y697C|1670|LMO7|protein_coding|CODING|ENST00000357063|exon_13_76383290_76383319 0/1:99:255,0,244 . . . 13 76383307 rs202172099 A G NON_SYNONYMOUS_CODING LMO7 MODERATE|MISSENSE|tAt/tGt|Y78C|120|LMO7|protein_coding|CODING|ENST00000497947|exon_13_76383290_76383319 0/1:99:255,0,244 . . . 13 76383307 rs202172099 A G NON_SYNONYMOUS_CODING LMO7 MODERATE|MISSENSE|tAt/tGt|Y78C|164|LMO7|protein_coding|CODING|ENST00000489941|exon_13_76383290_76383319 0/1:99:255,0,244 . . . 13 76395342 rs76082815 C T NON_SYNONYMOUS_CODING LMO7 MODERATE|MISSENSE|cCg/cTg|P169L|190|LMO7|protein_coding|CODING|ENST00000525373|exon_13_76395313_76395411 0/1:99:255,0,255 . . . 13 76395342 rs76082815 C T NON_SYNONYMOUS_CODING LMO7 MODERATE|MISSENSE|cCg/cTg|P363L|1275|LMO7|protein_coding|CODING|ENST00000526202|exon_13_76395313_76395745 0/1:99:255,0,255 . . . 13 76395342 rs76082815 C T NON_SYNONYMOUS_CODING LMO7 MODERATE|MISSENSE|cCg/cTg|P412L|1044|LMO7|protein_coding|CODING|ENST00000377499|exon_13_76395313_76395745 0/1:99:255,0,255 . . . 13 76395342 rs76082815 C T NON_SYNONYMOUS_CODING LMO7 MODERATE|MISSENSE|cCg/cTg|P464L|1349|LMO7|protein_coding|CODING|ENST00000341547|exon_13_76395313_76395745 0/1:99:255,0,255 . . . 13 76395342 rs76082815 C T NON_SYNONYMOUS_CODING LMO7 MODERATE|MISSENSE|cCg/cTg|P513L|1385|LMO7|protein_coding|CODING|ENST00000465261|exon_13_76395313_76395745 0/1:99:255,0,255 . . . 13 76395342 rs76082815 C T NON_SYNONYMOUS_CODING LMO7 MODERATE|MISSENSE|cCg/cTg|P513L|1398|LMO7|protein_coding|CODING|ENST00000321797|exon_13_76395313_76395745 0/1:99:255,0,255 . . . 13 76395342 rs76082815 C T NON_SYNONYMOUS_CODING LMO7 MODERATE|MISSENSE|cCg/cTg|P798L|1614|LMO7|protein_coding|CODING|ENST00000377534|exon_13_76395313_76395745 0/1:99:255,0,255 . . . 13 76395342 rs76082815 C T NON_SYNONYMOUS_CODING LMO7 MODERATE|MISSENSE|cCg/cTg|P798L|1670|LMO7|protein_coding|CODING|ENST00000357063|exon_13_76395313_76395745 0/1:99:255,0,255 . . . 13 76427347 rs7988661 C A NON_SYNONYMOUS_CODING LMO7 MODERATE|MISSENSE|cCa/cAa|P1139Q|1275|LMO7|protein_coding|CODING|ENST00000526202|exon_13_76427228_76427524 . 0/1:99:208,0,195 . . 13 76427347 rs7988661 C A NON_SYNONYMOUS_CODING LMO7 MODERATE|MISSENSE|cCa/cAa|P1213Q|1349|LMO7|protein_coding|CODING|ENST00000341547|exon_13_76427228_76427524 . 0/1:99:208,0,195 . . 13 76427347 rs7988661 C A NON_SYNONYMOUS_CODING LMO7 MODERATE|MISSENSE|cCa/cAa|P1262Q|1385|LMO7|protein_coding|CODING|ENST00000465261|exon_13_76427228_76427524 . 0/1:99:208,0,195 . . 13 76427347 rs7988661 C A NON_SYNONYMOUS_CODING LMO7 MODERATE|MISSENSE|cCa/cAa|P1262Q|1398|LMO7|protein_coding|CODING|ENST00000321797|exon_13_76427228_76427524 . 0/1:99:208,0,195 . . 13 76427347 rs7988661 C A NON_SYNONYMOUS_CODING LMO7 MODERATE|MISSENSE|cCa/cAa|P1547Q|1614|LMO7|protein_coding|CODING|ENST00000377534|exon_13_76427228_76427524 . 0/1:99:208,0,195 . . 13 76427347 rs7988661 C A NON_SYNONYMOUS_CODING LMO7 MODERATE|MISSENSE|cCa/cAa|P1547Q|1670|LMO7|protein_coding|CODING|ENST00000357063|exon_13_76427228_76427524 . 0/1:99:208,0,195 . . 13 76427403 rs71434812 G A NON_SYNONYMOUS_CODING LMO7 MODERATE|MISSENSE|Gtg/Atg|V1158M|1275|LMO7|protein_coding|CODING|ENST00000526202|exon_13_76427228_76427524 . 0/1:99:238,0,255 . . 13 76427403 rs71434812 G A NON_SYNONYMOUS_CODING LMO7 MODERATE|MISSENSE|Gtg/Atg|V1232M|1349|LMO7|protein_coding|CODING|ENST00000341547|exon_13_76427228_76427524 . 0/1:99:238,0,255 . . 13 76427403 rs71434812 G A NON_SYNONYMOUS_CODING LMO7 MODERATE|MISSENSE|Gtg/Atg|V1281M|1385|LMO7|protein_coding|CODING|ENST00000465261|exon_13_76427228_76427524 . 0/1:99:238,0,255 . . 13 76427403 rs71434812 G A NON_SYNONYMOUS_CODING LMO7 MODERATE|MISSENSE|Gtg/Atg|V1281M|1398|LMO7|protein_coding|CODING|ENST00000321797|exon_13_76427228_76427524 . 0/1:99:238,0,255 . . 13 76427403 rs71434812 G A NON_SYNONYMOUS_CODING LMO7 MODERATE|MISSENSE|Gtg/Atg|V1566M|1614|LMO7|protein_coding|CODING|ENST00000377534|exon_13_76427228_76427524 . 0/1:99:238,0,255 . . 13 76427403 rs71434812 G A NON_SYNONYMOUS_CODING LMO7 MODERATE|MISSENSE|Gtg/Atg|V1566M|1670|LMO7|protein_coding|CODING|ENST00000357063|exon_13_76427228_76427524 . 0/1:99:238,0,255 . . 13 76427410 rs7988841 C G NON_SYNONYMOUS_CODING LMO7 MODERATE|MISSENSE|cCa/cGa|P1160R|1275|LMO7|protein_coding|CODING|ENST00000526202|exon_13_76427228_76427524 . 0/1:99:228,0,252 . . 13 76427410 rs7988841 C G NON_SYNONYMOUS_CODING LMO7 MODERATE|MISSENSE|cCa/cGa|P1234R|1349|LMO7|protein_coding|CODING|ENST00000341547|exon_13_76427228_76427524 . 0/1:99:228,0,252 . . 13 76427410 rs7988841 C G NON_SYNONYMOUS_CODING LMO7 MODERATE|MISSENSE|cCa/cGa|P1283R|1385|LMO7|protein_coding|CODING|ENST00000465261|exon_13_76427228_76427524 . 0/1:99:228,0,252 . . 13 76427410 rs7988841 C G NON_SYNONYMOUS_CODING LMO7 MODERATE|MISSENSE|cCa/cGa|P1283R|1398|LMO7|protein_coding|CODING|ENST00000321797|exon_13_76427228_76427524 . 0/1:99:228,0,252 . . 13 76427410 rs7988841 C G NON_SYNONYMOUS_CODING LMO7 MODERATE|MISSENSE|cCa/cGa|P1568R|1614|LMO7|protein_coding|CODING|ENST00000377534|exon_13_76427228_76427524 . 0/1:99:228,0,252 . . 13 76427410 rs7988841 C G NON_SYNONYMOUS_CODING LMO7 MODERATE|MISSENSE|cCa/cGa|P1568R|1670|LMO7|protein_coding|CODING|ENST00000357063|exon_13_76427228_76427524 . 0/1:99:228,0,252 . . 13 77566090 rs77416795 C T NON_SYNONYMOUS_CODING CLN5 MODERATE|MISSENSE|Cgc/Tgc|R2C|407|CLN5|protein_coding|CODING|ENST00000377453|exon_13_77564795_77566406 . . . 0/1:99:191,0,194 13 77574606 rs138611001 C A NON_SYNONYMOUS_CODING CLN5 MODERATE|MISSENSE|aaC/aaA|N108K|273|CLN5|protein_coding|CODING|ENST00000535238|exon_13_77574593_77575504 . . . 0/1:99:255,0,202 13 77574606 rs138611001 C A NON_SYNONYMOUS_CODING CLN5 MODERATE|MISSENSE|aaC/aaA|N193K|358|CLN5|protein_coding|CODING|ENST00000541907|exon_13_77574593_77575938 . . . 0/1:99:255,0,202 13 77574606 rs138611001 C A NON_SYNONYMOUS_CODING CLN5 MODERATE|MISSENSE|aaC/aaA|N242K|407|CLN5|protein_coding|CODING|ENST00000377453|exon_13_77574593_77576652 . . . 0/1:99:255,0,202 13 77718642 . T C NON_SYNONYMOUS_CODING MYCBP2 MODERATE|MISSENSE|aAt/aGt|N2376S|4640|MYCBP2|protein_coding|CODING|ENST00000357337|exon_13_77718580_77718695 . 0/1:99:215,0,255 . . 13 77718642 . T C NON_SYNONYMOUS_CODING MYCBP2 MODERATE|MISSENSE|aAt/aGt|N2376S|4640|MYCBP2|protein_coding|CODING|ENST00000544440|exon_13_77718580_77718695 . 0/1:99:215,0,255 . . 13 77718642 . T C NON_SYNONYMOUS_CODING MYCBP2 MODERATE|MISSENSE|aAt/aGt|N2414S|4678|MYCBP2|protein_coding|CODING|ENST00000407578|exon_13_77718580_77718695 . 0/1:99:215,0,255 . . 13 80055437 rs183195124 C G NON_SYNONYMOUS_CODING NDFIP2 MODERATE|MISSENSE|aaC/aaG|N33K|336|NDFIP2|protein_coding|CODING|ENST00000218652|exon_13_80055287_80055659 . . . 0/1:99:182,0,199 13 80095078 rs61735407 G A NON_SYNONYMOUS_CODING NDFIP2 MODERATE|MISSENSE|aGt/aAt|S152N|336|NDFIP2|protein_coding|CODING|ENST00000218652|exon_13_80094945_80095110 . 0/1:99:255,0,255 . . 13 80095078 rs61735407 G A NON_SYNONYMOUS_CODING NDFIP2 MODERATE|MISSENSE|aGt/aAt|S69N|233|NDFIP2|protein_coding|CODING|ENST00000487865|exon_13_80094945_80095110 . 0/1:99:255,0,255 . . 13 95034749 rs1535692 G A NON_SYNONYMOUS_CODING GPC6 MODERATE|MISSENSE|Gtg/Atg|V412M|555|GPC6|protein_coding|CODING|ENST00000377047|exon_13_95034668_95034804 0/1:99:241,0,255 . . 0/1:99:182,0,255 13 95815415 rs3765534 C T NON_SYNONYMOUS_CODING ABCC4 MODERATE|MISSENSE|Gag/Aag|E682K|784|ABCC4|protein_coding|CODING|ENST00000536256|exon_13_95815376_95815470 0/1:99:255,0,218 . . . 13 95815415 rs3765534 C T NON_SYNONYMOUS_CODING ABCC4 MODERATE|MISSENSE|Gag/Aag|E710K|1278|ABCC4|protein_coding|CODING|ENST00000412704|exon_13_95815376_95815470 0/1:99:255,0,218 . . . 13 95815415 rs3765534 C T NON_SYNONYMOUS_CODING ABCC4 MODERATE|MISSENSE|Gag/Aag|E757K|1325|ABCC4|protein_coding|CODING|ENST00000376887|exon_13_95815376_95815470 0/1:99:255,0,218 . . . 13 95815415 rs3765534 C T NON_SYNONYMOUS_CODING ABCC4 MODERATE|MISSENSE|Gag/Aag|E757K|859|ABCC4|protein_coding|CODING|ENST00000431522|exon_13_95815376_95815470 0/1:99:255,0,218 . . . 13 95859035 rs2274407 C A NON_SYNONYMOUS_CODING ABCC4 MODERATE|MISSENSE|aaG/aaT|K229N|784|ABCC4|protein_coding|CODING|ENST00000536256|exon_13_95858786_95859035 0/1:99:255,0,255 . . . 13 95859035 rs2274407 C A NON_SYNONYMOUS_CODING ABCC4 MODERATE|MISSENSE|aaG/aaT|K304N|1278|ABCC4|protein_coding|CODING|ENST00000412704|exon_13_95858786_95859035 0/1:99:255,0,255 . . . 13 95859035 rs2274407 C A NON_SYNONYMOUS_CODING ABCC4 MODERATE|MISSENSE|aaG/aaT|K304N|1325|ABCC4|protein_coding|CODING|ENST00000376887|exon_13_95858786_95859035 0/1:99:255,0,255 . . . 13 95859035 rs2274407 C A NON_SYNONYMOUS_CODING ABCC4 MODERATE|MISSENSE|aaG/aaT|K304N|859|ABCC4|protein_coding|CODING|ENST00000431522|exon_13_95858786_95859035 0/1:99:255,0,255 . . . 13 98649862 . G T NON_SYNONYMOUS_CODING IPO5 MODERATE|MISSENSE|Gat/Tat|D206Y|972|IPO5|protein_coding|CODING|ENST00000539640|exon_13_98649785_98649872 . . . 0/1:99:255,0,184 13 98649862 . G T NON_SYNONYMOUS_CODING IPO5 MODERATE|MISSENSE|Gat/Tat|D331Y|1097|IPO5|protein_coding|CODING|ENST00000357602|exon_13_98649785_98649872 . . . 0/1:99:255,0,184 13 98649862 . G T NON_SYNONYMOUS_CODING IPO5 MODERATE|MISSENSE|Gat/Tat|D331Y|1097|IPO5|protein_coding|CODING|ENST00000490680|exon_13_98649785_98649872 . . . 0/1:99:255,0,184 13 98649862 . G T NON_SYNONYMOUS_CODING IPO5 MODERATE|MISSENSE|Gat/Tat|D349Y|1115|IPO5|protein_coding|CODING|ENST00000261574|exon_13_98649785_98649872 . . . 0/1:99:255,0,184 13 98652834 rs202197617 G T NON_SYNONYMOUS_CODING IPO5 MODERATE|MISSENSE|tGc/tTc|C223F|972|IPO5|protein_coding|CODING|ENST00000539640|exon_13_98652793_98652899 . . . 0/1:59:56,0,150 13 98652834 rs202197617 G T NON_SYNONYMOUS_CODING IPO5 MODERATE|MISSENSE|tGc/tTc|C348F|1097|IPO5|protein_coding|CODING|ENST00000357602|exon_13_98652793_98652899 . . . 0/1:59:56,0,150 13 98652834 rs202197617 G T NON_SYNONYMOUS_CODING IPO5 MODERATE|MISSENSE|tGc/tTc|C348F|1097|IPO5|protein_coding|CODING|ENST00000490680|exon_13_98652793_98652899 . . . 0/1:59:56,0,150 13 98652834 rs202197617 G T NON_SYNONYMOUS_CODING IPO5 MODERATE|MISSENSE|tGc/tTc|C366F|1115|IPO5|protein_coding|CODING|ENST00000261574|exon_13_98652793_98652899 . . . 0/1:59:56,0,150 13 99356607 rs8187838 G T NON_SYNONYMOUS_CODING SLC15A1 MODERATE|MISSENSE|aCt/aAt|T451N|708|SLC15A1|protein_coding|CODING|ENST00000376503|exon_13_99356543_99356689 0/1:99:255,0,246 . . . 13 99554621 rs62620184 G A NON_SYNONYMOUS_CODING DOCK9 MODERATE|MISSENSE|gCg/gTg|A434V|1253|DOCK9|protein_coding|CODING|ENST00000442173|exon_13_99554542_99554745 . 1/1:99:255,72,0 . . 13 99554621 rs62620184 G A NON_SYNONYMOUS_CODING DOCK9 MODERATE|MISSENSE|gCg/gTg|A434V|2068|DOCK9|protein_coding|CODING|ENST00000376460|exon_13_99554542_99554745 . 1/1:99:255,72,0 . . 13 99554621 rs62620184 G A NON_SYNONYMOUS_CODING DOCK9 MODERATE|MISSENSE|gCg/gTg|A434V|2101|DOCK9|protein_coding|CODING|ENST00000428223|exon_13_99554542_99554745 . 1/1:99:255,72,0 . . 13 99554621 rs62620184 G A NON_SYNONYMOUS_CODING DOCK9 MODERATE|MISSENSE|gCg/gTg|A435V|2079|DOCK9|protein_coding|CODING|ENST00000400235|exon_13_99554542_99554745 . 1/1:99:255,72,0 . . 13 99554621 rs62620184 G A NON_SYNONYMOUS_CODING DOCK9 MODERATE|MISSENSE|gCg/gTg|A435V|2093|DOCK9|protein_coding|CODING|ENST00000339416|exon_13_99554542_99554745 . 1/1:99:255,72,0 . . 13 99554621 rs62620184 G A NON_SYNONYMOUS_CODING DOCK9 MODERATE|MISSENSE|gCg/gTg|A435V|2094|DOCK9|protein_coding|CODING|ENST00000376455|exon_13_99554542_99554745 . 1/1:99:255,72,0 . . 13 99554621 rs62620184 G A NON_SYNONYMOUS_CODING DOCK9 MODERATE|MISSENSE|gCg/gTg|A435V|2102|DOCK9|protein_coding|CODING|ENST00000357329|exon_13_99554542_99554745 . 1/1:99:255,72,0 . . 13 99554621 rs62620184 G A NON_SYNONYMOUS_CODING DOCK9 MODERATE|MISSENSE|gCg/gTg|A446V|1393|DOCK9|protein_coding|CODING|ENST00000448493|exon_13_99554542_99554745 . 1/1:99:255,72,0 . . 13 103383792 rs76643569 G A NON_SYNONYMOUS_CODING CCDC168 MODERATE|MISSENSE|Cat/Tat|H1790Y|2452|CCDC168|protein_coding|CODING|ENST00000322527|exon_13_103381801_103389159 0/1:99:237,0,255 . . . 13 103384712 rs17507827 G A NON_SYNONYMOUS_CODING CCDC168 MODERATE|MISSENSE|aCg/aTg|T1483M|2452|CCDC168|protein_coding|CODING|ENST00000322527|exon_13_103381801_103389159 . . 0/1:99:255,0,241 . 13 103388015 rs17507841 C G NON_SYNONYMOUS_CODING CCDC168 MODERATE|MISSENSE|gGa/gCa|G382A|2452|CCDC168|protein_coding|CODING|ENST00000322527|exon_13_103381801_103389159 . . 0/1:99:255,0,234 . 13 103388370 rs9518825 C T NON_SYNONYMOUS_CODING CCDC168 MODERATE|MISSENSE|Ggt/Agt|G264S|2452|CCDC168|protein_coding|CODING|ENST00000322527|exon_13_103381801_103389159 0/1:99:248,0,255 . . . 13 103388880 rs17592459 T C NON_SYNONYMOUS_CODING CCDC168 MODERATE|MISSENSE|Atg/Gtg|M94V|2452|CCDC168|protein_coding|CODING|ENST00000322527|exon_13_103381801_103389159 . . 0/1:99:255,0,255 . 13 103506690 rs4987063 G A NON_SYNONYMOUS_CODING ERCC5 MODERATE|MISSENSE|Gtt/Att|V145I|1186|ERCC5|protein_coding|CODING|ENST00000355739|exon_13_103506638_103506724 0/1:99:255,0,253 . . . 13 103506690 rs4987063 G A NON_SYNONYMOUS_CODING ERCC5 MODERATE|MISSENSE|Gtt/Att|V145I|232|ERCC5|protein_coding|CODING|ENST00000535557|exon_13_103506638_103506724 0/1:99:255,0,253 . . . 13 103506690 rs4987063 G A NON_SYNONYMOUS_CODING ERCC5 MODERATE|MISSENSE|Gtt/Att|V570I|1611|ERCC5|protein_coding|CODING|ENST00000418659|exon_13_103506638_103506724 0/1:99:255,0,253 . . . 13 108518686 . TCTGCTGCTGCTGCTGCTGCTGCTGCTGCCGCTGCTGCTGCTG TCTGCTGCTGCTGCTGCTGCCGCTGCTGCTGCTG CODON_DELETION FAM155A MODERATE||cggcagcagcag/cgg|RQQQ77R|458|FAM155A|protein_coding|CODING|ENST00000375915|exon_13_108518030_108519083 0/1:99:112,0,146 . . . 13 110436867 . C T NON_SYNONYMOUS_CODING IRS2 MODERATE|MISSENSE|Gcc/Acc|A512T|1338|IRS2|protein_coding|CODING|ENST00000375856|exon_13_110434389_110438915 0/1:99:114,0,156 . . . 13 110960254 . G A NON_SYNONYMOUS_CODING COL4A2 MODERATE|MISSENSE|Ggg/Agg|G2R|104|COL4A2|protein_coding|CODING|ENST00000400163|exon_13_110960207_110960294 . 0/1:99:253,0,238 . . 13 110960254 . G A NON_SYNONYMOUS_CODING COL4A2 MODERATE|MISSENSE|Ggg/Agg|G2R|1712|COL4A2|protein_coding|CODING|ENST00000257309|exon_13_110960207_110960294 . 0/1:99:253,0,238 . . 13 110960254 . G A NON_SYNONYMOUS_CODING COL4A2 MODERATE|MISSENSE|Ggg/Agg|G2R|1712|COL4A2|protein_coding|CODING|ENST00000360467|exon_13_110960207_110960294 . 0/1:99:253,0,238 . . 13 111082772 rs62621885 G T NON_SYNONYMOUS_CODING COL4A2 MODERATE|MISSENSE|Gtc/Ttc|V192F|1712|COL4A2|protein_coding|CODING|ENST00000257309|exon_13_111082748_111082783 . . 0/1:99:255,0,213 . 13 111082772 rs62621885 G T NON_SYNONYMOUS_CODING COL4A2 MODERATE|MISSENSE|Gtc/Ttc|V192F|1712|COL4A2|protein_coding|CODING|ENST00000360467|exon_13_111082748_111082783 . . 0/1:99:255,0,213 . 13 111109461 rs9515215 A G NON_SYNONYMOUS_CODING COL4A2-AS2 MODERATE|MISSENSE|aTg/aCg|M241T|353|COL4A2-AS2|protein_coding|CODING|ENST00000458403|exon_13_111108743_111109703 . . 0/1:99:227,0,199 . 13 111110488 . C A NON_SYNONYMOUS_CODING COL4A2-AS2 MODERATE|MISSENSE|gGg/gTg|G110V|353|COL4A2-AS2|protein_coding|CODING|ENST00000458403|exon_13_111110438_111110633 . 0/1:99:208,0,255 . . 13 111121653 rs201058867 G A NON_SYNONYMOUS_CODING COL4A2 MODERATE|MISSENSE|Ggg/Agg|G729R|1712|COL4A2|protein_coding|CODING|ENST00000257309|exon_13_111121564_111121671 . . 0/1:99:255,0,213 . 13 111121653 rs201058867 G A NON_SYNONYMOUS_CODING COL4A2 MODERATE|MISSENSE|Ggg/Agg|G729R|1712|COL4A2|protein_coding|CODING|ENST00000360467|exon_13_111121564_111121671 . . 0/1:99:255,0,213 . 13 111294747 rs138022576 C T NON_SYNONYMOUS_CODING CARS2 MODERATE|MISSENSE|cGg/cAg|R513Q|564|CARS2|protein_coding|CODING|ENST00000257347|exon_13_111294662_111294868 0/1:99:173,0,144 . . . 13 113530199 rs11616795 G A NON_SYNONYMOUS_CODING ATP11A MODERATE|MISSENSE|Gtc/Atc|V1091I|1134|ATP11A|protein_coding|CODING|ENST00000283558|exon_13_113530090_113530255 0/1:99:255,0,245 . . . 13 113530199 rs11616795 G A NON_SYNONYMOUS_CODING ATP11A MODERATE|MISSENSE|Gtc/Atc|V1091I|1134|ATP11A|protein_coding|CODING|ENST00000375645|exon_13_113530090_113530255 0/1:99:255,0,245 . . . 13 113530199 rs11616795 G A NON_SYNONYMOUS_CODING ATP11A MODERATE|MISSENSE|Gtc/Atc|V1091I|1134|ATP11A|protein_coding|CODING|ENST00000487903|exon_13_113530090_113530255 0/1:99:255,0,245 . . . 13 113530199 rs11616795 G A NON_SYNONYMOUS_CODING ATP11A MODERATE|MISSENSE|Gtc/Atc|V1091I|1191|ATP11A|protein_coding|CODING|ENST00000375630|exon_13_113530090_113530255 0/1:99:255,0,245 . . . 13 113530199 rs11616795 G A NON_SYNONYMOUS_CODING ATP11A MODERATE|MISSENSE|Gtc/Atc|V83I|183|ATP11A|protein_coding|CODING|ENST00000419631|exon_13_113530090_113530255 0/1:99:255,0,245 . . . 13 113798236 rs3211783 G A NON_SYNONYMOUS_CODING F10 MODERATE|MISSENSE|Ggg/Agg|G192R|332|F10|protein_coding|CODING|ENST00000375551|exon_13_113798165_113798409 . . 0/1:99:235,0,245 . 13 113798236 rs3211783 G A NON_SYNONYMOUS_CODING F10 MODERATE|MISSENSE|Ggg/Agg|G192R|334|F10|protein_coding|CODING|ENST00000409306|exon_13_113798165_113798409 . . 0/1:99:235,0,245 . 13 113798236 rs3211783 G A NON_SYNONYMOUS_CODING F10 MODERATE|MISSENSE|Ggg/Agg|G192R|488|F10|protein_coding|CODING|ENST00000375559|exon_13_113798165_113798409 . . 0/1:99:235,0,245 . 13 113826100 rs3024772 G A NON_SYNONYMOUS_CODING PROZ MODERATE|MISSENSE|cGc/cAc|R295H|400|PROZ|protein_coding|CODING|ENST00000375547|exon_13_113825908_113826694 . . 0/1:99:255,0,142 . 13 113826100 rs3024772 G A NON_SYNONYMOUS_CODING PROZ MODERATE|MISSENSE|cGc/cAc|R317H|422|PROZ|protein_coding|CODING|ENST00000342783|exon_13_113825908_113826694 . . 0/1:99:255,0,142 . 13 114150039 rs142418115 A G NON_SYNONYMOUS_CODING TMCO3 MODERATE|MISSENSE|cAg/cGg|Q48R|414|TMCO3|protein_coding|CODING|ENST00000375391|exon_13_114149817_114150340 . . 0/1:99:170,0,171 . 13 114150039 rs142418115 A G NON_SYNONYMOUS_CODING TMCO3 MODERATE|MISSENSE|cAg/cGg|Q48R|677|TMCO3|protein_coding|CODING|ENST00000434316|exon_13_114149817_114150340 . . 0/1:99:170,0,171 . 13 114175032 rs2260335 G A NON_SYNONYMOUS_CODING TMCO3 MODERATE|MISSENSE|Gcc/Acc|A443T|677|TMCO3|protein_coding|CODING|ENST00000434316|exon_13_114174931_114175048 . . 0/1:99:189,0,224 0/1:99:113,0,212 14 19378395 rs201551285 A G NON_SYNONYMOUS_CODING OR11H12.1 MODERATE|MISSENSE|Agc/Ggc|S268G|326|OR11H12.1|protein_coding|CODING|ENST00000550708|exon_14_19377522_19378606 0/1:48:56,0,45 . . . 14 20012887 . T A NON_SYNONYMOUS_CODING POTEM MODERATE|MISSENSE|cAa/cTa|Q290L|593|POTEM|protein_coding|CODING|ENST00000439503|exon_14_20012841_20012945 . . 0/1:66:67,0,66 . 14 20502044 rs17277025 G T NON_SYNONYMOUS_CODING OR4K13 MODERATE|MISSENSE|Caa/Aaa|Q292K|304|OR4K13|protein_coding|CODING|ENST00000315693|exon_14_20502003_20502919 . 0/1:99:255,0,255 0/1:99:255,0,255 . 14 20528250 rs45584133 G T NON_SYNONYMOUS_CODING OR4L1 MODERATE|MISSENSE|gGa/gTa|G16V|312|OR4L1|protein_coding|CODING|ENST00000315683|exon_14_20528204_20529142 . 0/1:99:255,0,255 0/1:99:255,0,255 . 14 20528682 rs45585336 T C NON_SYNONYMOUS_CODING OR4L1 MODERATE|MISSENSE|aTa/aCa|I160T|312|OR4L1|protein_coding|CODING|ENST00000315683|exon_14_20528204_20529142 . 0/1:99:255,0,255 0/1:99:255,0,255 . 14 20665627 rs45620333 A G NON_SYNONYMOUS_CODING OR11G2 MODERATE|MISSENSE|Agc/Ggc|S45G|345|OR11G2|protein_coding|CODING|ENST00000357366|exon_14_20665495_20666605 0/1:99:251,0,255 . . . 14 20665640 rs140668031 G A NON_SYNONYMOUS_CODING OR11G2 MODERATE|MISSENSE|gGc/gAc|G49D|345|OR11G2|protein_coding|CODING|ENST00000357366|exon_14_20665495_20666605 0/1:99:245,0,245 . . . 14 20691992 rs141900029 C A NON_SYNONYMOUS_CODING OR11H6 MODERATE|MISSENSE|Cag/Aag|Q42K|330|OR11H6|protein_coding|CODING|ENST00000315519|exon_14_20691791_20692964 0/1:99:220,0,235 . . . 14 21215923 rs34552133 G T NON_SYNONYMOUS_CODING EDDM3A MODERATE|MISSENSE|Ggc/Tgc|G62C|147|EDDM3A|protein_coding|CODING|ENST00000326842|exon_14_21215714_21216539 0/1:99:255,0,255 . . . 14 21542800 . G A NON_SYNONYMOUS_CODING ARHGEF40 MODERATE|MISSENSE|cGc/cAc|R304H|1471|ARHGEF40|protein_coding|CODING|ENST00000298693|exon_14_21542091_21543339 . . 0/1:99:135,0,207 . 14 21542800 . G A NON_SYNONYMOUS_CODING ARHGEF40 MODERATE|MISSENSE|cGc/cAc|R304H|1519|ARHGEF40|protein_coding|CODING|ENST00000298694|exon_14_21542091_21543339 . . 0/1:99:135,0,207 . 14 21542800 . G A NON_SYNONYMOUS_CODING ARHGEF40 MODERATE|MISSENSE|cGc/cAc|R304H|556|ARHGEF40|protein_coding|CODING|ENST00000555038|exon_14_21542091_21543339 . . 0/1:99:135,0,207 . 14 21549840 . G T NON_SYNONYMOUS_CODING ARHGEF40 MODERATE|MISSENSE|tGg/tTg|W938L|1471|ARHGEF40|protein_coding|CODING|ENST00000298693|exon_14_21549668_21550278 0/1:99:217,0,233 . . . 14 21549840 . G T NON_SYNONYMOUS_CODING ARHGEF40 MODERATE|MISSENSE|tGg/tTg|W938L|1519|ARHGEF40|protein_coding|CODING|ENST00000298694|exon_14_21549668_21550278 0/1:99:217,0,233 . . . 14 22038091 rs117076408 C T NON_SYNONYMOUS_CODING OR10G3 MODERATE|MISSENSE|aGg/aAg|R262K|313|OR10G3|protein_coding|CODING|ENST00000303532|exon_14_22037934_22038875 0/1:99:255,0,255 . . . 14 22038562 rs45612332 T C NON_SYNONYMOUS_CODING OR10G3 MODERATE|MISSENSE|tAt/tGt|Y105C|313|OR10G3|protein_coding|CODING|ENST00000303532|exon_14_22037934_22038875 0/1:99:247,0,230 0/1:99:255,0,247 . . 14 22102293 rs41307110 C T NON_SYNONYMOUS_CODING OR10G2 MODERATE|MISSENSE|Gct/Act|A236T|310|OR10G2|protein_coding|CODING|ENST00000542433|exon_14_22101992_22103096 1/1:16:59,9,0 . . . 14 22102592 rs10138694 T C NON_SYNONYMOUS_CODING OR10G2 MODERATE|MISSENSE|cAc/cGc|H136R|310|OR10G2|protein_coding|CODING|ENST00000542433|exon_14_22101992_22103096 1/1:57:89,30,0 . . 0/1:55:52,0,239 14 22102745 rs41314525 C A NON_SYNONYMOUS_CODING OR10G2 MODERATE|MISSENSE|cGg/cTg|R85L|310|OR10G2|protein_coding|CODING|ENST00000542433|exon_14_22101992_22103096 1/1:99:255,93,0 . 0/1:99:247,0,242 . 14 22134018 rs61732411 C T NON_SYNONYMOUS_CODING OR4E2 MODERATE|MISSENSE|tCg/tTg|S241L|313|OR4E2|protein_coding|CODING|ENST00000408935|exon_14_22133297_22134238 . 0/1:99:255,0,247 . . 14 23025946 rs74036418 C T NON_SYNONYMOUS_CODING AE000662.92.1 MODERATE|MISSENSE|cCg/cTg|P27L|99|AE000662.92.1|protein_coding|CODING|ENST00000557595|exon_14_23025864_23025993 0/1:99:228,0,159 . . . 14 23034026 rs14752 C G NON_SYNONYMOUS_CODING DAD1 MODERATE|MISSENSE|Gaa/Caa|E75Q|78|DAD1|protein_coding|CODING|ENST00000538631|exon_14_23033808_23034037 . 0/1:99:255,0,152 . . 14 23237212 rs17619 G A NON_SYNONYMOUS_CODING OXA1L MODERATE|MISSENSE|Gta/Ata|V151I|495|OXA1L|protein_coding|CODING|ENST00000285848|exon_14_23237167_23237380 0/1:99:255,0,244 . . . 14 23237212 rs17619 G A NON_SYNONYMOUS_CODING OXA1L MODERATE|MISSENSE|Gta/Ata|V75I|419|OXA1L|protein_coding|CODING|ENST00000358043|exon_14_23237167_23237380 0/1:99:255,0,244 . . . 14 23237212 rs17619 G A NON_SYNONYMOUS_CODING OXA1L MODERATE|MISSENSE|Gta/Ata|V91I|408|OXA1L|protein_coding|CODING|ENST00000412791|exon_14_23237167_23237380 0/1:99:255,0,244 . . . 14 23240238 rs143046719 G T NON_SYNONYMOUS_CODING OXA1L MODERATE|MISSENSE|atG/atT|M301I|419|OXA1L|protein_coding|CODING|ENST00000358043|exon_14_23240227_23240389 . 0/1:99:255,0,255 . . 14 23240238 rs143046719 G T NON_SYNONYMOUS_CODING OXA1L MODERATE|MISSENSE|atG/atT|M317I|408|OXA1L|protein_coding|CODING|ENST00000412791|exon_14_23240227_23240389 . 0/1:99:255,0,255 . . 14 23240238 rs143046719 G T NON_SYNONYMOUS_CODING OXA1L MODERATE|MISSENSE|atG/atT|M377I|495|OXA1L|protein_coding|CODING|ENST00000285848|exon_14_23240227_23240389 . 0/1:99:255,0,255 . . 14 23312594 rs1042704 G A NON_SYNONYMOUS_CODING MMP14 MODERATE|MISSENSE|Gat/Aat|D273N|582|MMP14|protein_coding|CODING|ENST00000311852|exon_14_23312466_23312627 . . . 1/1:99:255,66,0 14 23451345 rs45543740 G A NON_SYNONYMOUS_CODING AJUBA MODERATE|MISSENSE|cCt/cTt|P44L|538|AJUBA|protein_coding|CODING|ENST00000262713|exon_14_23450470_23451851 0/1:99:214,0,157 . . . 14 23451345 rs45543740 G A NON_SYNONYMOUS_CODING AJUBA MODERATE|MISSENSE|cCt/cTt|P44L|538|AJUBA|protein_coding|CODING|ENST00000361265|exon_14_23450470_23451547 0/1:99:214,0,157 . . . 14 23518275 rs200471169 C T NON_SYNONYMOUS_CODING CDH24 MODERATE|MISSENSE|Gcc/Acc|A603T|781|CDH24|protein_coding|CODING|ENST00000487137|exon_14_23518236_23518484 . . . 0/1:99:194,0,198 14 23518275 rs200471169 C T NON_SYNONYMOUS_CODING CDH24 MODERATE|MISSENSE|Gcc/Acc|A603T|781|CDH24|protein_coding|CODING|ENST00000554034|exon_14_23518236_23518484 . . . 0/1:99:194,0,198 14 23518275 rs200471169 C T NON_SYNONYMOUS_CODING CDH24 MODERATE|MISSENSE|Gcc/Acc|A641T|819|CDH24|protein_coding|CODING|ENST00000267383|exon_14_23518236_23518484 . . . 0/1:99:194,0,198 14 23518275 rs200471169 C T NON_SYNONYMOUS_CODING CDH24 MODERATE|MISSENSE|Gcc/Acc|A641T|819|CDH24|protein_coding|CODING|ENST00000397359|exon_14_23518236_23518484 . . . 0/1:99:194,0,198 14 23587838 rs141903485 G T NON_SYNONYMOUS_CODING CEBPE MODERATE|MISSENSE|Ctg/Atg|L155M|281|CEBPE|protein_coding|CODING|ENST00000206513|exon_14_23587791_23588825 . 0/1:99:219,0,211 . . 14 23744932 rs1055061 C T NON_SYNONYMOUS_CODING HOMEZ MODERATE|MISSENSE|cGa/cAa|R502Q|550|HOMEZ|protein_coding|CODING|ENST00000357460|exon_14_23743250_23746396 0/1:99:249,0,185 . . . 14 23744932 rs1055061 C T NON_SYNONYMOUS_CODING RP11-124D2.6.1 MODERATE|MISSENSE|cGa/cAa|R504Q|552|RP11-124D2.6.1|protein_coding|CODING|ENST00000431326|exon_14_23744697_23746396 0/1:99:249,0,185 . . . 14 23744932 rs1055061 C T NON_SYNONYMOUS_CODING RP11-124D2.6.1 MODERATE|MISSENSE|cGa/cAa|R504Q|552|RP11-124D2.6.1|protein_coding|CODING|ENST00000561013|exon_14_23744696_23746396 0/1:99:249,0,185 . . . 14 23771734 rs75158392 T C NON_SYNONYMOUS_CODING PPP1R3E MODERATE|MISSENSE|Atc/Gtc|I18V|279|PPP1R3E|protein_coding|CODING|ENST00000452015|exon_14_23771369_23772057 0/1:99:130,0,198 . . . 14 23829369 rs115984700 G T NON_SYNONYMOUS_CODING EFS MODERATE|MISSENSE|gCt/gAt|A140D|561|EFS|protein_coding|CODING|ENST00000216733|exon_14_23829350_23829490 . . . 1/1:99:255,81,0 14 23829369 rs115984700 G T NON_SYNONYMOUS_CODING EFS MODERATE|MISSENSE|gCt/gAt|A47D|392|EFS|protein_coding|CODING|ENST00000429593|exon_14_23829350_23829490 . . . 1/1:99:255,81,0 14 23829369 rs115984700 G T NON_SYNONYMOUS_CODING EFS MODERATE|MISSENSE|gCt/gAt|A47D|468|EFS|protein_coding|CODING|ENST00000351354|exon_14_23829350_23829490 . . . 1/1:99:255,81,0 14 24459443 rs45579231 G C NON_SYNONYMOUS_CODING DHRS4L2 MODERATE|MISSENSE|Gtc/Ctc|V33L|215|DHRS4L2|protein_coding|CODING|ENST00000348916|exon_14_24459391_24459568 . 1/1:99:255,81,0 . . 14 24459443 rs45579231 G C NON_SYNONYMOUS_CODING DHRS4L2 MODERATE|MISSENSE|Gtc/Ctc|V59L|257|DHRS4L2|protein_coding|CODING|ENST00000382755|exon_14_24459391_24459568 . 1/1:99:255,81,0 . . 14 24459443 rs45579231 G C NON_SYNONYMOUS_CODING DHRS4L2 MODERATE|MISSENSE|Gtc/Ctc|V61L|155|DHRS4L2|protein_coding|CODING|ENST00000545240|exon_14_24459391_24459568 . 1/1:99:255,81,0 . . 14 24459443 rs45579231 G C NON_SYNONYMOUS_CODING DHRS4L2 MODERATE|MISSENSE|Gtc/Ctc|V61L|157|DHRS4L2|protein_coding|CODING|ENST00000537912|exon_14_24459391_24459568 . 1/1:99:255,81,0 . . 14 24459443 rs45579231 G C NON_SYNONYMOUS_CODING DHRS4L2 MODERATE|MISSENSE|Gtc/Ctc|V61L|157|DHRS4L2|protein_coding|CODING|ENST00000558753|exon_14_24459391_24459568 . 1/1:99:255,81,0 . . 14 24459443 rs45579231 G C NON_SYNONYMOUS_CODING DHRS4L2 MODERATE|MISSENSE|Gtc/Ctc|V61L|192|DHRS4L2|protein_coding|CODING|ENST00000397071|exon_14_24459391_24459568 . 1/1:99:255,81,0 . . 14 24459443 rs45579231 G C NON_SYNONYMOUS_CODING DHRS4L2 MODERATE|MISSENSE|Gtc/Ctc|V61L|232|DHRS4L2|protein_coding|CODING|ENST00000335125|exon_14_24459391_24459568 . 1/1:99:255,81,0 . . 14 24459443 rs45579231 G C NON_SYNONYMOUS_CODING DHRS4L2 MODERATE|MISSENSE|Gtc/Ctc|V61L|241|DHRS4L2|protein_coding|CODING|ENST00000559411|exon_14_24459391_24459568 . 1/1:99:255,81,0 . . 14 24587638 rs151306695 C T NON_SYNONYMOUS_CODING DCAF11 MODERATE|MISSENSE|Cgt/Tgt|R107C|446|DCAF11|protein_coding|CODING|ENST00000396936|exon_14_24587597_24587743 . . 0/1:99:255,0,255 . 14 24587638 rs151306695 C T NON_SYNONYMOUS_CODING DCAF11 MODERATE|MISSENSE|Cgt/Tgt|R181C|181|DCAF11|protein_coding|CODING|ENST00000561375|exon_14_24587597_24587645 . . 0/1:99:255,0,255 . 14 24587638 rs151306695 C T NON_SYNONYMOUS_CODING DCAF11 MODERATE|MISSENSE|Cgt/Tgt|R181C|520|DCAF11|protein_coding|CODING|ENST00000396941|exon_14_24587597_24587743 . . 0/1:99:255,0,255 . 14 24587638 rs151306695 C T NON_SYNONYMOUS_CODING DCAF11 MODERATE|MISSENSE|Cgt/Tgt|R207C|546|DCAF11|protein_coding|CODING|ENST00000446197|exon_14_24587597_24587743 . . 0/1:99:255,0,255 . 14 24587638 rs151306695 C T NON_SYNONYMOUS_CODING DCAF11 MODERATE|MISSENSE|Cgt/Tgt|R207C|546|DCAF11|protein_coding|CODING|ENST00000559115|exon_14_24587597_24587743 . . 0/1:99:255,0,255 . 14 24648865 . G C NON_SYNONYMOUS_CODING REC8 MODERATE|MISSENSE|Gtg/Ctg|V444L|529|REC8|protein_coding|CODING|ENST00000447460|exon_14_24648801_24648932 0/1:99:255,0,189 . . . 14 24648865 . G C NON_SYNONYMOUS_CODING REC8 MODERATE|MISSENSE|Gtg/Ctg|V461L|546|REC8|protein_coding|CODING|ENST00000311457|exon_14_24648801_24648932 0/1:99:255,0,189 . . . 14 24648865 . G C NON_SYNONYMOUS_CODING REC8 MODERATE|MISSENSE|Gtg/Ctg|V461L|546|REC8|protein_coding|CODING|ENST00000559919|exon_14_24648801_24648932 0/1:99:255,0,189 . . . 14 24662296 rs62621251 T C NON_SYNONYMOUS_CODING TM9SF1 MODERATE|MISSENSE|atA/atG|I175M|209|TM9SF1|protein_coding|CODING|ENST00000528010|exon_14_24662191_24662475 . . 1/1:99:255,102,0 . 14 24662296 rs62621251 T C NON_SYNONYMOUS_CODING TM9SF1 MODERATE|MISSENSE|atA/atG|I175M|241|TM9SF1|protein_coding|CODING|ENST00000525592|exon_14_24662094_24662475 . . 1/1:99:255,102,0 . 14 24662296 rs62621251 T C NON_SYNONYMOUS_CODING TM9SF1 MODERATE|MISSENSE|atA/atG|I175M|256|TM9SF1|protein_coding|CODING|ENST00000530468|exon_14_24662049_24662475 . . 1/1:99:255,102,0 . 14 24662296 rs62621251 T C NON_SYNONYMOUS_CODING TM9SF1 MODERATE|MISSENSE|atA/atG|I175M|299|TM9SF1|protein_coding|CODING|ENST00000528895|exon_14_24661919_24662475 . . 1/1:99:255,102,0 . 14 24662296 rs62621251 T C NON_SYNONYMOUS_CODING TM9SF1 MODERATE|MISSENSE|atA/atG|I175M|489|TM9SF1|protein_coding|CODING|ENST00000396854|exon_14_24661854_24662475 . . 1/1:99:255,102,0 . 14 24662296 rs62621251 T C NON_SYNONYMOUS_CODING TM9SF1 MODERATE|MISSENSE|atA/atG|I175M|589|TM9SF1|protein_coding|CODING|ENST00000528669|exon_14_24661854_24662475 . . 1/1:99:255,102,0 . 14 24662296 rs62621251 T C NON_SYNONYMOUS_CODING TM9SF1 MODERATE|MISSENSE|atA/atG|I175M|606|TM9SF1|protein_coding|CODING|ENST00000261789|exon_14_24661854_24662475 . . 1/1:99:255,102,0 . 14 24662296 rs62621251 T C NON_SYNONYMOUS_CODING RP11-468E2.1.1 MODERATE|MISSENSE|atA/atG|I384M|815|RP11-468E2.1.1|protein_coding|CODING|ENST00000530611|exon_14_24661854_24662475 . . 1/1:99:255,102,0 . 14 24662296 rs62621251 T C NON_SYNONYMOUS_CODING TM9SF1 MODERATE|MISSENSE|atA/atG|I384M|815|TM9SF1|protein_coding|CODING|ENST00000556387|exon_14_24661854_24662475 . . 1/1:99:255,102,0 . 14 24662296 rs62621251 T C NON_SYNONYMOUS_CODING TM9SF1 MODERATE|MISSENSE|atA/atG|I88M|206|TM9SF1|protein_coding|CODING|ENST00000530563|exon_14_24661937_24662475 . . 1/1:99:255,102,0 . 14 24662296 rs62621251 T C NON_SYNONYMOUS_CODING TM9SF1 MODERATE|MISSENSE|atA/atG|I88M|519|TM9SF1|protein_coding|CODING|ENST00000524835|exon_14_24661854_24662475 . . 1/1:99:255,102,0 . 14 24682767 rs2295320 C T NON_SYNONYMOUS_CODING CHMP4A MODERATE|MISSENSE|cGg/cAg|R3Q|265|CHMP4A|protein_coding|CODING|ENST00000347519|exon_14_24682615_24683075 0/1:99:213,0,255 0/1:99:240,0,255 . . 14 24707879 rs147556927 T C NON_SYNONYMOUS_CODING GMPR2 MODERATE|MISSENSE|Tac/Cac|Y162H|169|GMPR2|protein_coding|CODING|ENST00000558483|exon_14_24707833_24708252 . . . 0/1:99:255,0,157 14 24724656 rs142404759 T C NON_SYNONYMOUS_CODING TGM1 MODERATE|MISSENSE|gAg/gGg|E520G|817|TGM1|protein_coding|CODING|ENST00000206765|exon_14_24724570_24724723 . 0/1:99:255,0,169 . . 14 24724656 rs142404759 T C NON_SYNONYMOUS_CODING TGM1 MODERATE|MISSENSE|gAg/gGg|E78G|375|TGM1|protein_coding|CODING|ENST00000544573|exon_14_24724570_24724723 . 0/1:99:255,0,169 . . 14 24769854 . AGG AGGGGG CODON_CHANGE_PLUS_CODON_INSERTION C14orf21 MODERATE||gag/gGGGag|E164GE|535|C14orf21|protein_coding|CODING|ENST00000396802|exon_14_24769614_24770063 . 0/1:13:179,0,10 . . 14 24769854 . AGG AGGGGG CODON_CHANGE_PLUS_CODON_INSERTION C14orf21 MODERATE||gag/gGGGag|E164GE|636|C14orf21|protein_coding|CODING|ENST00000267425|exon_14_24769614_24770063 . 0/1:13:179,0,10 . . 14 24798433 rs61745073 T A NON_SYNONYMOUS_CODING ADCY4 MODERATE|MISSENSE|gAg/gTg|E146V|419|ADCY4|protein_coding|CODING|ENST00000396747|exon_14_24798267_24798440 . . . 0/1:99:193,0,255 14 24798433 rs61745073 T A NON_SYNONYMOUS_CODING ADCY4 MODERATE|MISSENSE|gAg/gTg|E453V|1077|ADCY4|protein_coding|CODING|ENST00000310677|exon_14_24798267_24798440 . . . 0/1:99:193,0,255 14 24798433 rs61745073 T A NON_SYNONYMOUS_CODING ADCY4 MODERATE|MISSENSE|gAg/gTg|E453V|1077|ADCY4|protein_coding|CODING|ENST00000418030|exon_14_24798267_24798440 . . . 0/1:99:193,0,255 14 24798433 rs61745073 T A NON_SYNONYMOUS_CODING ADCY4 MODERATE|MISSENSE|gAg/gTg|E453V|1077|ADCY4|protein_coding|CODING|ENST00000554068|exon_14_24798267_24798440 . . . 0/1:99:193,0,255 14 24845686 rs56367620 T C NON_SYNONYMOUS_CODING NFATC4 MODERATE|MISSENSE|cTg/cCg|L283P|329|NFATC4|protein_coding|CODING|ENST00000554473|exon_14_24845500_24845760 . . . 0/1:99:227,0,167 14 24845686 rs56367620 T C NON_SYNONYMOUS_CODING NFATC4 MODERATE|MISSENSE|cTg/cCg|L283P|436|NFATC4|protein_coding|CODING|ENST00000555167|exon_14_24845500_24848810 . . . 0/1:99:227,0,167 14 24845686 rs56367620 T C NON_SYNONYMOUS_CODING NFATC4 MODERATE|MISSENSE|cTg/cCg|L283P|437|NFATC4|protein_coding|CODING|ENST00000556759|exon_14_24845500_24846084 . . . 0/1:99:227,0,167 14 24845686 rs56367620 T C NON_SYNONYMOUS_CODING NFATC4 MODERATE|MISSENSE|cTg/cCg|L36P|189|NFATC4|protein_coding|CODING|ENST00000555393|exon_14_24845500_24847207 . . . 0/1:99:227,0,167 14 24845686 rs56367620 T C NON_SYNONYMOUS_CODING NFATC4 MODERATE|MISSENSE|cTg/cCg|L36P|190|NFATC4|protein_coding|CODING|ENST00000555802|exon_14_24845500_24846084 . . . 0/1:99:227,0,167 14 24845686 rs56367620 T C NON_SYNONYMOUS_CODING NFATC4 MODERATE|MISSENSE|cTg/cCg|L36P|82|NFATC4|protein_coding|CODING|ENST00000557767|exon_14_24845500_24845760 . . . 0/1:99:227,0,167 14 24845686 rs56367620 T C NON_SYNONYMOUS_CODING NFATC4 MODERATE|MISSENSE|cTg/cCg|L678P|724|NFATC4|protein_coding|CODING|ENST00000554661|exon_14_24845500_24845760 . . . 0/1:99:227,0,167 14 24845686 rs56367620 T C NON_SYNONYMOUS_CODING NFATC4 MODERATE|MISSENSE|cTg/cCg|L678P|831|NFATC4|protein_coding|CODING|ENST00000557451|exon_14_24845500_24848810 . . . 0/1:99:227,0,167 14 24845686 rs56367620 T C NON_SYNONYMOUS_CODING NFATC4 MODERATE|MISSENSE|cTg/cCg|L678P|832|NFATC4|protein_coding|CODING|ENST00000553879|exon_14_24845500_24846084 . . . 0/1:99:227,0,167 14 24845686 rs56367620 T C NON_SYNONYMOUS_CODING NFATC4 MODERATE|MISSENSE|cTg/cCg|L678P|832|NFATC4|protein_coding|CODING|ENST00000554344|exon_14_24845500_24846084 . . . 0/1:99:227,0,167 14 24845686 rs56367620 T C NON_SYNONYMOUS_CODING NFATC4 MODERATE|MISSENSE|cTg/cCg|L736P|782|NFATC4|protein_coding|CODING|ENST00000556169|exon_14_24845500_24845760 . . . 0/1:99:227,0,167 14 24845686 rs56367620 T C NON_SYNONYMOUS_CODING NFATC4 MODERATE|MISSENSE|cTg/cCg|L736P|889|NFATC4|protein_coding|CODING|ENST00000422617|exon_14_24845500_24848810 . . . 0/1:99:227,0,167 14 24845686 rs56367620 T C NON_SYNONYMOUS_CODING NFATC4 MODERATE|MISSENSE|cTg/cCg|L736P|890|NFATC4|protein_coding|CODING|ENST00000555453|exon_14_24845500_24846084 . . . 0/1:99:227,0,167 14 24845686 rs56367620 T C NON_SYNONYMOUS_CODING NFATC4 MODERATE|MISSENSE|cTg/cCg|L748P|794|NFATC4|protein_coding|CODING|ENST00000554050|exon_14_24845500_24845760 . . . 0/1:99:227,0,167 14 24845686 rs56367620 T C NON_SYNONYMOUS_CODING NFATC4 MODERATE|MISSENSE|cTg/cCg|L748P|901|NFATC4|protein_coding|CODING|ENST00000553708|exon_14_24845500_24848810 . . . 0/1:99:227,0,167 14 24845686 rs56367620 T C NON_SYNONYMOUS_CODING NFATC4 MODERATE|MISSENSE|cTg/cCg|L748P|902|NFATC4|protein_coding|CODING|ENST00000250373|exon_14_24845500_24846084 . . . 0/1:99:227,0,167 14 24845686 rs56367620 T C NON_SYNONYMOUS_CODING NFATC4 MODERATE|MISSENSE|cTg/cCg|L761P|807|NFATC4|protein_coding|CODING|ENST00000554966|exon_14_24845500_24845760 . . . 0/1:99:227,0,167 14 24845686 rs56367620 T C NON_SYNONYMOUS_CODING NFATC4 MODERATE|MISSENSE|cTg/cCg|L761P|914|NFATC4|protein_coding|CODING|ENST00000424781|exon_14_24845500_24848810 . . . 0/1:99:227,0,167 14 24845686 rs56367620 T C NON_SYNONYMOUS_CODING NFATC4 MODERATE|MISSENSE|cTg/cCg|L761P|915|NFATC4|protein_coding|CODING|ENST00000555590|exon_14_24845500_24846084 . . . 0/1:99:227,0,167 14 24845686 rs56367620 T C NON_SYNONYMOUS_CODING NFATC4 MODERATE|MISSENSE|cTg/cCg|L780P|826|NFATC4|protein_coding|CODING|ENST00000553469|exon_14_24845500_24845760 . . . 0/1:99:227,0,167 14 24845686 rs56367620 T C NON_SYNONYMOUS_CODING NFATC4 MODERATE|MISSENSE|cTg/cCg|L780P|933|NFATC4|protein_coding|CODING|ENST00000539237|exon_14_24845500_24848810 . . . 0/1:99:227,0,167 14 24845686 rs56367620 T C NON_SYNONYMOUS_CODING NFATC4 MODERATE|MISSENSE|cTg/cCg|L780P|934|NFATC4|protein_coding|CODING|ENST00000556279|exon_14_24845500_24846084 . . . 0/1:99:227,0,167 14 24845686 rs56367620 T C NON_SYNONYMOUS_CODING NFATC4 MODERATE|MISSENSE|cTg/cCg|L811P|857|NFATC4|protein_coding|CODING|ENST00000554591|exon_14_24845500_24845760 . . . 0/1:99:227,0,167 14 24845686 rs56367620 T C NON_SYNONYMOUS_CODING NFATC4 MODERATE|MISSENSE|cTg/cCg|L811P|964|NFATC4|protein_coding|CODING|ENST00000413692|exon_14_24845500_24848810 . . . 0/1:99:227,0,167 14 24910076 rs11538184 A T NON_SYNONYMOUS_CODING SDR39U1 MODERATE|MISSENSE|Ttt/Att|F129I|293|SDR39U1|protein_coding|CODING|ENST00000399395|exon_14_24909989_24910132 . 0/1:99:255,0,216 . . 14 24910076 rs11538184 A T NON_SYNONYMOUS_CODING SDR39U1 MODERATE|MISSENSE|Ttt/Att|F155I|319|SDR39U1|protein_coding|CODING|ENST00000336353|exon_14_24909989_24910132 . 0/1:99:255,0,216 . . 14 24910076 rs11538184 A T NON_SYNONYMOUS_CODING SDR39U1 MODERATE|MISSENSE|Ttt/Att|F21I|185|SDR39U1|protein_coding|CODING|ENST00000554698|exon_14_24909989_24910132 . 0/1:99:255,0,216 . . 14 24910076 rs11538184 A T NON_SYNONYMOUS_CODING SDR39U1 MODERATE|MISSENSE|Ttt/Att|F23I|168|SDR39U1|protein_coding|CODING|ENST00000553343|exon_14_24909989_24910132 . 0/1:99:255,0,216 . . 14 24910076 rs11538184 A T NON_SYNONYMOUS_CODING SDR39U1 MODERATE|MISSENSE|Ttt/Att|F34I|198|SDR39U1|protein_coding|CODING|ENST00000399390|exon_14_24909989_24910132 . 0/1:99:255,0,216 . . 14 24910076 rs11538184 A T NON_SYNONYMOUS_CODING SDR39U1 MODERATE|MISSENSE|Ttt/Att|F47I|211|SDR39U1|protein_coding|CODING|ENST00000538105|exon_14_24909989_24910132 . 0/1:99:255,0,216 . . 14 31495346 rs2281563 C T NON_SYNONYMOUS_CODING STRN3 MODERATE|MISSENSE|Gcc/Acc|A16T|713|STRN3|protein_coding|CODING|ENST00000355683|exon_14_31495110_31495607 0/1:50:119,0,47 0/1:53:50,0,160 . . 14 31495346 rs2281563 C T NON_SYNONYMOUS_CODING STRN3 MODERATE|MISSENSE|Gcc/Acc|A16T|797|STRN3|protein_coding|CODING|ENST00000357479|exon_14_31495110_31495588 0/1:50:119,0,47 0/1:53:50,0,160 . . 14 31763142 rs61754460 T G NON_SYNONYMOUS_CODING HEATR5A MODERATE|MISSENSE|Ata/Cta|I1637L|1753|HEATR5A|protein_coding|CODING|ENST00000439727|exon_14_31763097_31763310 0/1:99:245,0,255 . . . 14 31763142 rs61754460 T G NON_SYNONYMOUS_CODING HEATR5A MODERATE|MISSENSE|Ata/Cta|I1849L|1965|HEATR5A|protein_coding|CODING|ENST00000439348|exon_14_31763097_31763310 0/1:99:245,0,255 . . . 14 31763142 rs61754460 T G NON_SYNONYMOUS_CODING HEATR5A MODERATE|MISSENSE|Ata/Cta|I1924L|2040|HEATR5A|protein_coding|CODING|ENST00000389961|exon_14_31763097_31763310 0/1:99:245,0,255 . . . 14 31763142 rs61754460 T G NON_SYNONYMOUS_CODING HEATR5A MODERATE|MISSENSE|Ata/Cta|I1930L|2046|HEATR5A|protein_coding|CODING|ENST00000543095|exon_14_31763097_31763310 0/1:99:245,0,255 . . . 14 33292736 . A T NON_SYNONYMOUS_CODING AKAP6 MODERATE|MISSENSE|cAa/cTa|Q1906L|2319|AKAP6|protein_coding|CODING|ENST00000280979|exon_14_33290608_33294021 0/1:99:255,0,255 . . . 14 34269167 rs12434716 G C NON_SYNONYMOUS_CODING NPAS3 MODERATE|MISSENSE|Gcg/Ccg|A520P|901|NPAS3|protein_coding|CODING|ENST00000346562|exon_14_34268940_34273382 . . . 0/1:99:162,0,159 14 34269167 rs12434716 G C NON_SYNONYMOUS_CODING NPAS3 MODERATE|MISSENSE|Gcg/Ccg|A522P|903|NPAS3|protein_coding|CODING|ENST00000548645|exon_14_34268940_34270484 . . . 0/1:99:162,0,159 14 34269167 rs12434716 G C NON_SYNONYMOUS_CODING NPAS3 MODERATE|MISSENSE|Gcg/Ccg|A526P|905|NPAS3|protein_coding|CODING|ENST00000551634|exon_14_34268940_34270309 . . . 0/1:99:162,0,159 14 34269167 rs12434716 G C NON_SYNONYMOUS_CODING NPAS3 MODERATE|MISSENSE|Gcg/Ccg|A539P|920|NPAS3|protein_coding|CODING|ENST00000357798|exon_14_34268940_34270315 . . . 0/1:99:162,0,159 14 34269167 rs12434716 G C NON_SYNONYMOUS_CODING NPAS3 MODERATE|MISSENSE|Gcg/Ccg|A552P|933|NPAS3|protein_coding|CODING|ENST00000356141|exon_14_34268940_34270315 . . . 0/1:99:162,0,159 14 34269167 rs12434716 G C NON_SYNONYMOUS_CODING NPAS3 MODERATE|MISSENSE|Gcg/Ccg|A557P|938|NPAS3|protein_coding|CODING|ENST00000551492|exon_14_34268940_34270315 . . . 0/1:99:162,0,159 14 35230980 rs45620534 C T NON_SYNONYMOUS_CODING BAZ1A MODERATE|MISSENSE|aGa/aAa|R1061K|1233|BAZ1A|protein_coding|CODING|ENST00000543083|exon_14_35230963_35231429 . 0/1:99:250,0,255 . . 14 35230980 rs45620534 C T NON_SYNONYMOUS_CODING BAZ1A MODERATE|MISSENSE|aGa/aAa|R1377K|1524|BAZ1A|protein_coding|CODING|ENST00000358716|exon_14_35230963_35231429 . 0/1:99:250,0,255 . . 14 35230980 rs45620534 C T NON_SYNONYMOUS_CODING BAZ1A MODERATE|MISSENSE|aGa/aAa|R1409K|1556|BAZ1A|protein_coding|CODING|ENST00000360310|exon_14_35230963_35231429 . 0/1:99:250,0,255 . . 14 35230980 rs45620534 C T NON_SYNONYMOUS_CODING BAZ1A MODERATE|MISSENSE|aGa/aAa|R1409K|1556|BAZ1A|protein_coding|CODING|ENST00000382422|exon_14_35230963_35231429 . 0/1:99:250,0,255 . . 14 35231108 rs1044140 A T NON_SYNONYMOUS_CODING BAZ1A MODERATE|MISSENSE|aaT/aaA|N1018K|1233|BAZ1A|protein_coding|CODING|ENST00000543083|exon_14_35230963_35231429 . 0/1:99:255,0,255 . . 14 35231108 rs1044140 A T NON_SYNONYMOUS_CODING BAZ1A MODERATE|MISSENSE|aaT/aaA|N1334K|1524|BAZ1A|protein_coding|CODING|ENST00000358716|exon_14_35230963_35231429 . 0/1:99:255,0,255 . . 14 35231108 rs1044140 A T NON_SYNONYMOUS_CODING BAZ1A MODERATE|MISSENSE|aaT/aaA|N1366K|1556|BAZ1A|protein_coding|CODING|ENST00000360310|exon_14_35230963_35231429 . 0/1:99:255,0,255 . . 14 35231108 rs1044140 A T NON_SYNONYMOUS_CODING BAZ1A MODERATE|MISSENSE|aaT/aaA|N1366K|1556|BAZ1A|protein_coding|CODING|ENST00000382422|exon_14_35230963_35231429 . 0/1:99:255,0,255 . . 14 36003618 rs144835486 C T NON_SYNONYMOUS_CODING INSM2 MODERATE|MISSENSE|Ccc/Tcc|P54S|566|INSM2|protein_coding|CODING|ENST00000307169|exon_14_36003248_36006260 . 0/1:99:196,0,153 . . 14 36192428 . T G NON_SYNONYMOUS_CODING RALGAPA1 MODERATE|MISSENSE|Atc/Ctc|I637L|2036|RALGAPA1|protein_coding|CODING|ENST00000389698|exon_14_36192233_36192470 . . . 0/1:99:255,0,150 14 36192428 . T G NON_SYNONYMOUS_CODING RALGAPA1 MODERATE|MISSENSE|Atc/Ctc|I637L|2049|RALGAPA1|protein_coding|CODING|ENST00000382366|exon_14_36192233_36192470 . . . 0/1:99:255,0,150 14 36192428 . T G NON_SYNONYMOUS_CODING RALGAPA1 MODERATE|MISSENSE|Atc/Ctc|I637L|2073|RALGAPA1|protein_coding|CODING|ENST00000335518|exon_14_36192233_36192470 . . . 0/1:99:255,0,150 14 36192428 . T G NON_SYNONYMOUS_CODING RALGAPA1 MODERATE|MISSENSE|Atc/Ctc|I637L|2082|RALGAPA1|protein_coding|CODING|ENST00000553892|exon_14_36192233_36192470 . . . 0/1:99:255,0,150 14 36192428 . T G NON_SYNONYMOUS_CODING RALGAPA1 MODERATE|MISSENSE|Atc/Ctc|I637L|2083|RALGAPA1|protein_coding|CODING|ENST00000258840|exon_14_36192233_36192470 . . . 0/1:99:255,0,150 14 36192428 . T G NON_SYNONYMOUS_CODING RALGAPA1 MODERATE|MISSENSE|Atc/Ctc|I637L|2083|RALGAPA1|protein_coding|CODING|ENST00000307138|exon_14_36192233_36192470 . . . 0/1:99:255,0,150 14 38261536 . G A NON_SYNONYMOUS_CODING TTC6 MODERATE|MISSENSE|Gct/Act|A1209T|1886|TTC6|protein_coding|CODING|ENST00000553443|exon_14_38261469_38261619 . 0/1:99:214,0,255 . . 14 39706423 . C G NON_SYNONYMOUS_CODING MIA2 MODERATE|MISSENSE|cCt/cGt|P108R|123|MIA2|protein_coding|CODING|ENST00000555143|exon_14_39706350_39706474 0/1:99:255,0,241 . . . 14 39769122 rs34761053 A C NON_SYNONYMOUS_CODING CTAGE5 MODERATE|MISSENSE|Aaa/Caa|K163Q|724|CTAGE5|protein_coding|CODING|ENST00000557038|exon_14_39769068_39769190 . 0/1:99:255,0,255 . . 14 39769122 rs34761053 A C NON_SYNONYMOUS_CODING CTAGE5 MODERATE|MISSENSE|Aaa/Caa|K168Q|729|CTAGE5|protein_coding|CODING|ENST00000556148|exon_14_39769068_39769190 . 0/1:99:255,0,255 . . 14 39769122 rs34761053 A C NON_SYNONYMOUS_CODING CTAGE5 MODERATE|MISSENSE|Aaa/Caa|K205Q|672|CTAGE5|protein_coding|CODING|ENST00000382245|exon_14_39769068_39769190 . 0/1:99:255,0,255 . . 14 39769122 rs34761053 A C NON_SYNONYMOUS_CODING CTAGE5 MODERATE|MISSENSE|Aaa/Caa|K214Q|775|CTAGE5|protein_coding|CODING|ENST00000396165|exon_14_39769068_39769190 . 0/1:99:255,0,255 . . 14 39769122 rs34761053 A C NON_SYNONYMOUS_CODING CTAGE5 MODERATE|MISSENSE|Aaa/Caa|K214Q|775|CTAGE5|protein_coding|CODING|ENST00000553352|exon_14_39769068_39769190 . 0/1:99:255,0,255 . . 14 39769122 rs34761053 A C NON_SYNONYMOUS_CODING CTAGE5 MODERATE|MISSENSE|Aaa/Caa|K231Q|792|CTAGE5|protein_coding|CODING|ENST00000341749|exon_14_39769068_39769190 . 0/1:99:255,0,255 . . 14 39769122 rs34761053 A C NON_SYNONYMOUS_CODING CTAGE5 MODERATE|MISSENSE|Aaa/Caa|K243Q|761|CTAGE5|protein_coding|CODING|ENST00000348007|exon_14_39769068_39769190 . 0/1:99:255,0,255 . . 14 39769122 rs34761053 A C NON_SYNONYMOUS_CODING CTAGE5 MODERATE|MISSENSE|Aaa/Caa|K243Q|771|CTAGE5|protein_coding|CODING|ENST00000341502|exon_14_39769068_39769190 . 0/1:99:255,0,255 . . 14 39769122 rs34761053 A C NON_SYNONYMOUS_CODING CTAGE5 MODERATE|MISSENSE|Aaa/Caa|K243Q|804|CTAGE5|protein_coding|CODING|ENST00000280083|exon_14_39769068_39769190 . 0/1:99:255,0,255 . . 14 39769122 rs34761053 A C NON_SYNONYMOUS_CODING CTAGE5 MODERATE|MISSENSE|Aaa/Caa|K248Q|809|CTAGE5|protein_coding|CODING|ENST00000396158|exon_14_39769068_39769190 . 0/1:99:255,0,255 . . 14 39769122 rs34761053 A C NON_SYNONYMOUS_CODING RP11-407N17.3.1 MODERATE|MISSENSE|Aaa/Caa|K778Q|1339|RP11-407N17.3.1|protein_coding|CODING|ENST00000553728|exon_14_39769068_39769190 . 0/1:99:255,0,255 . . 14 39790149 rs36060072 C G NON_SYNONYMOUS_CODING RP11-407N17.3.1 MODERATE|MISSENSE|Ccc/Gcc|P1056A|1339|RP11-407N17.3.1|protein_coding|CODING|ENST00000553728|exon_14_39790132_39790260 . 0/1:99:255,0,237 . . 14 39790149 rs36060072 C G NON_SYNONYMOUS_CODING CTAGE5 MODERATE|MISSENSE|Ccc/Gcc|P441A|724|CTAGE5|protein_coding|CODING|ENST00000557038|exon_14_39790132_39790260 . 0/1:99:255,0,237 . . 14 39790149 rs36060072 C G NON_SYNONYMOUS_CODING CTAGE5 MODERATE|MISSENSE|Ccc/Gcc|P446A|729|CTAGE5|protein_coding|CODING|ENST00000556148|exon_14_39790132_39790260 . 0/1:99:255,0,237 . . 14 39790149 rs36060072 C G NON_SYNONYMOUS_CODING CTAGE5 MODERATE|MISSENSE|Ccc/Gcc|P483A|672|CTAGE5|protein_coding|CODING|ENST00000382245|exon_14_39790132_39790260 . 0/1:99:255,0,237 . . 14 39790149 rs36060072 C G NON_SYNONYMOUS_CODING CTAGE5 MODERATE|MISSENSE|Ccc/Gcc|P492A|775|CTAGE5|protein_coding|CODING|ENST00000396165|exon_14_39790132_39790260 . 0/1:99:255,0,237 . . 14 39790149 rs36060072 C G NON_SYNONYMOUS_CODING CTAGE5 MODERATE|MISSENSE|Ccc/Gcc|P492A|775|CTAGE5|protein_coding|CODING|ENST00000553352|exon_14_39790132_39790260 . 0/1:99:255,0,237 . . 14 39790149 rs36060072 C G NON_SYNONYMOUS_CODING CTAGE5 MODERATE|MISSENSE|Ccc/Gcc|P509A|792|CTAGE5|protein_coding|CODING|ENST00000341749|exon_14_39790132_39790260 . 0/1:99:255,0,237 . . 14 39790149 rs36060072 C G NON_SYNONYMOUS_CODING CTAGE5 MODERATE|MISSENSE|Ccc/Gcc|P521A|771|CTAGE5|protein_coding|CODING|ENST00000341502|exon_14_39790132_39790260 . 0/1:99:255,0,237 . . 14 39790149 rs36060072 C G NON_SYNONYMOUS_CODING CTAGE5 MODERATE|MISSENSE|Ccc/Gcc|P521A|804|CTAGE5|protein_coding|CODING|ENST00000280083|exon_14_39790132_39790260 . 0/1:99:255,0,237 . . 14 39790149 rs36060072 C G NON_SYNONYMOUS_CODING CTAGE5 MODERATE|MISSENSE|Ccc/Gcc|P526A|809|CTAGE5|protein_coding|CODING|ENST00000396158|exon_14_39790132_39790260 . 0/1:99:255,0,237 . . 14 39818076 rs61742363 A G NON_SYNONYMOUS_CODING RP11-407N17.3.1 MODERATE|MISSENSE|Aga/Gga|R1250G|1339|RP11-407N17.3.1|protein_coding|CODING|ENST00000553728|exon_14_39817947_39818181 . 1/1:99:255,102,0 . . 14 39818076 rs61742363 A G NON_SYNONYMOUS_CODING CTAGE5 MODERATE|MISSENSE|Aga/Gga|R635G|724|CTAGE5|protein_coding|CODING|ENST00000557038|exon_14_39817947_39818181 . 1/1:99:255,102,0 . . 14 39818076 rs61742363 A G NON_SYNONYMOUS_CODING CTAGE5 MODERATE|MISSENSE|Aga/Gga|R640G|729|CTAGE5|protein_coding|CODING|ENST00000556148|exon_14_39817947_39818181 . 1/1:99:255,102,0 . . 14 39818076 rs61742363 A G NON_SYNONYMOUS_CODING CTAGE5 MODERATE|MISSENSE|Aga/Gga|R672G|761|CTAGE5|protein_coding|CODING|ENST00000348007|exon_14_39817947_39818181 . 1/1:99:255,102,0 . . 14 39818076 rs61742363 A G NON_SYNONYMOUS_CODING CTAGE5 MODERATE|MISSENSE|Aga/Gga|R686G|775|CTAGE5|protein_coding|CODING|ENST00000396165|exon_14_39817947_39818181 . 1/1:99:255,102,0 . . 14 39818076 rs61742363 A G NON_SYNONYMOUS_CODING CTAGE5 MODERATE|MISSENSE|Aga/Gga|R686G|775|CTAGE5|protein_coding|CODING|ENST00000553352|exon_14_39817947_39818181 . 1/1:99:255,102,0 . . 14 39818076 rs61742363 A G NON_SYNONYMOUS_CODING CTAGE5 MODERATE|MISSENSE|Aga/Gga|R703G|792|CTAGE5|protein_coding|CODING|ENST00000341749|exon_14_39817947_39818181 . 1/1:99:255,102,0 . . 14 39818076 rs61742363 A G NON_SYNONYMOUS_CODING CTAGE5 MODERATE|MISSENSE|Aga/Gga|R715G|771|CTAGE5|protein_coding|CODING|ENST00000341502|exon_14_39817947_39818181 . 1/1:99:255,102,0 . . 14 39818076 rs61742363 A G NON_SYNONYMOUS_CODING CTAGE5 MODERATE|MISSENSE|Aga/Gga|R715G|804|CTAGE5|protein_coding|CODING|ENST00000280083|exon_14_39817947_39818181 . 1/1:99:255,102,0 . . 14 39818076 rs61742363 A G NON_SYNONYMOUS_CODING CTAGE5 MODERATE|MISSENSE|Aga/Gga|R720G|809|CTAGE5|protein_coding|CODING|ENST00000396158|exon_14_39817947_39818181 . 1/1:99:255,102,0 . . 14 45432870 rs3825629 G C NON_SYNONYMOUS_CODING FAM179B MODERATE|MISSENSE|Gaa/Caa|E416Q|1160|FAM179B|protein_coding|CODING|ENST00000429476|exon_14_45431393_45433670 0/1:99:255,0,255 . . . 14 45432870 rs3825629 G C NON_SYNONYMOUS_CODING FAM179B MODERATE|MISSENSE|Gaa/Caa|E416Q|1720|FAM179B|protein_coding|CODING|ENST00000361577|exon_14_45431411_45433670 0/1:99:255,0,255 . . . 14 45432870 rs3825629 G C NON_SYNONYMOUS_CODING FAM179B MODERATE|MISSENSE|Gaa/Caa|E416Q|1773|FAM179B|protein_coding|CODING|ENST00000361462|exon_14_45431442_45433670 0/1:99:255,0,255 . . . 14 45432870 rs3825629 G C NON_SYNONYMOUS_CODING FAM179B MODERATE|MISSENSE|Gaa/Caa|E416Q|995|FAM179B|protein_coding|CODING|ENST00000382233|exon_14_45431442_45433670 0/1:99:255,0,255 . . . 14 45433155 rs3742591 C G NON_SYNONYMOUS_CODING FAM179B MODERATE|MISSENSE|Ctg/Gtg|L511V|1160|FAM179B|protein_coding|CODING|ENST00000429476|exon_14_45431393_45433670 0/1:99:255,0,228 . . . 14 45433155 rs3742591 C G NON_SYNONYMOUS_CODING FAM179B MODERATE|MISSENSE|Ctg/Gtg|L511V|1720|FAM179B|protein_coding|CODING|ENST00000361577|exon_14_45431411_45433670 0/1:99:255,0,228 . . . 14 45433155 rs3742591 C G NON_SYNONYMOUS_CODING FAM179B MODERATE|MISSENSE|Ctg/Gtg|L511V|1773|FAM179B|protein_coding|CODING|ENST00000361462|exon_14_45431442_45433670 0/1:99:255,0,228 . . . 14 45433155 rs3742591 C G NON_SYNONYMOUS_CODING FAM179B MODERATE|MISSENSE|Ctg/Gtg|L511V|995|FAM179B|protein_coding|CODING|ENST00000382233|exon_14_45431442_45433670 0/1:99:255,0,228 . . . 14 45606287 rs10138997 C T NON_SYNONYMOUS_CODING FANCM MODERATE|MISSENSE|tCc/tTc|S175F|2022|FANCM|protein_coding|CODING|ENST00000542564|exon_14_45606272_45606444 0/1:99:255,0,253 . . . 14 45606287 rs10138997 C T NON_SYNONYMOUS_CODING FANCM MODERATE|MISSENSE|tCc/tTc|S175F|2048|FANCM|protein_coding|CODING|ENST00000267430|exon_14_45606272_45606444 0/1:99:255,0,253 . . . 14 45606287 rs10138997 C T NON_SYNONYMOUS_CODING FANCM MODERATE|MISSENSE|tCc/tTc|S175F|669|FANCM|protein_coding|CODING|ENST00000556036|exon_14_45606272_45606444 0/1:99:255,0,253 . . . 14 45644589 rs1367580 G T NON_SYNONYMOUS_CODING FANCM MODERATE|MISSENSE|Gta/Tta|V394L|1564|FANCM|protein_coding|CODING|ENST00000556250|exon_14_45644274_45646179 0/1:99:255,0,255 . . . 14 45644589 rs1367580 G T NON_SYNONYMOUS_CODING FANCM MODERATE|MISSENSE|Gta/Tta|V852L|2022|FANCM|protein_coding|CODING|ENST00000542564|exon_14_45644274_45646179 0/1:99:255,0,255 . . . 14 45644589 rs1367580 G T NON_SYNONYMOUS_CODING FANCM MODERATE|MISSENSE|Gta/Tta|V878L|2048|FANCM|protein_coding|CODING|ENST00000267430|exon_14_45644274_45646179 0/1:99:255,0,255 . . . 14 45645715 rs45604036 A G NON_SYNONYMOUS_CODING FANCM MODERATE|MISSENSE|aAt/aGt|N1227S|2022|FANCM|protein_coding|CODING|ENST00000542564|exon_14_45644274_45646179 0/1:99:255,0,255 . . . 14 45645715 rs45604036 A G NON_SYNONYMOUS_CODING FANCM MODERATE|MISSENSE|aAt/aGt|N1253S|2048|FANCM|protein_coding|CODING|ENST00000267430|exon_14_45644274_45646179 0/1:99:255,0,255 . . . 14 45645715 rs45604036 A G NON_SYNONYMOUS_CODING FANCM MODERATE|MISSENSE|aAt/aGt|N769S|1564|FANCM|protein_coding|CODING|ENST00000556250|exon_14_45644274_45646179 0/1:99:255,0,255 . . . 14 45650900 rs78211950 A G NON_SYNONYMOUS_CODING FANCM MODERATE|MISSENSE|Ata/Gta|I1434V|2022|FANCM|protein_coding|CODING|ENST00000542564|exon_14_45650840_45650908 0/1:99:255,0,255 . . . 14 45650900 rs78211950 A G NON_SYNONYMOUS_CODING FANCM MODERATE|MISSENSE|Ata/Gta|I1460V|2048|FANCM|protein_coding|CODING|ENST00000267430|exon_14_45650840_45650908 0/1:99:255,0,255 . . . 14 45650900 rs78211950 A G NON_SYNONYMOUS_CODING FANCM MODERATE|MISSENSE|Ata/Gta|I976V|1564|FANCM|protein_coding|CODING|ENST00000556250|exon_14_45650840_45650908 0/1:99:255,0,255 . . . 14 45665468 rs3736772 C G NON_SYNONYMOUS_CODING FANCM MODERATE|MISSENSE|Ccg/Gcg|P1328A|1564|FANCM|protein_coding|CODING|ENST00000556250|exon_14_45665375_45665750 0/1:99:211,0,255 . . . 14 45665468 rs3736772 C G NON_SYNONYMOUS_CODING FANCM MODERATE|MISSENSE|Ccg/Gcg|P1786A|2022|FANCM|protein_coding|CODING|ENST00000542564|exon_14_45665375_45665750 0/1:99:211,0,255 . . . 14 45665468 rs3736772 C G NON_SYNONYMOUS_CODING FANCM MODERATE|MISSENSE|Ccg/Gcg|P1812A|2048|FANCM|protein_coding|CODING|ENST00000267430|exon_14_45665375_45665750 0/1:99:211,0,255 . . . 14 45696037 rs34101857 T G NON_SYNONYMOUS_CODING MIS18BP1 MODERATE|MISSENSE|gaA/gaC|E583D|1132|MIS18BP1|protein_coding|CODING|ENST00000310806|exon_14_45695946_45696039 0/1:99:255,0,255 . . . 14 45711316 rs34862991 C T NON_SYNONYMOUS_CODING MIS18BP1 MODERATE|MISSENSE|cGg/cAg|R355Q|1132|MIS18BP1|protein_coding|CODING|ENST00000310806|exon_14_45711237_45711721 . 0/1:99:255,0,255 . . 14 50555865 rs191584713 T C NON_SYNONYMOUS_CODING C14orf183 MODERATE|MISSENSE|Agt/Ggt|S141G|324|C14orf183|protein_coding|CODING|ENST00000305273|exon_14_50555839_50555913 0/1:99:240,0,250 . . . 14 50901768 rs17780143 G A NON_SYNONYMOUS_CODING MAP4K5 MODERATE|MISSENSE|aCg/aTg|T633M|846|MAP4K5|protein_coding|CODING|ENST00000013125|exon_14_50901680_50901783 0/1:99:216,0,255 . 0/1:99:255,0,255 . 14 50911878 rs34818002 G A NON_SYNONYMOUS_CODING MAP4K5 MODERATE|MISSENSE|cCg/cTg|P407L|846|MAP4K5|protein_coding|CODING|ENST00000013125|exon_14_50911759_50911912 . . . 0/1:99:255,0,255 14 50923249 rs12881869 C T NON_SYNONYMOUS_CODING MAP4K5 MODERATE|MISSENSE|Gct/Act|A334T|846|MAP4K5|protein_coding|CODING|ENST00000013125|exon_14_50923234_50923312 . . . 0/1:99:255,0,255 14 51202311 rs2295847 G C NON_SYNONYMOUS_CODING NIN MODERATE|MISSENSE|Caa/Gaa|Q1221E|1276|NIN|protein_coding|CODING|ENST00000389868|exon_14_51202234_51202335 . . . 0/1:99:255,0,232 14 51202311 rs2295847 G C NON_SYNONYMOUS_CODING NIN MODERATE|MISSENSE|Caa/Gaa|Q1221E|1377|NIN|protein_coding|CODING|ENST00000382043|exon_14_51202234_51202335 . . . 0/1:99:255,0,232 14 51202311 rs2295847 G C NON_SYNONYMOUS_CODING NIN MODERATE|MISSENSE|Caa/Gaa|Q1917E|2116|NIN|protein_coding|CODING|ENST00000311149|exon_14_51202234_51202335 . . . 0/1:99:255,0,232 14 51202311 rs2295847 G C NON_SYNONYMOUS_CODING NIN MODERATE|MISSENSE|Caa/Gaa|Q1934E|1989|NIN|protein_coding|CODING|ENST00000324330|exon_14_51202234_51202335 . . . 0/1:99:255,0,232 14 51202311 rs2295847 G C NON_SYNONYMOUS_CODING NIN MODERATE|MISSENSE|Caa/Gaa|Q1934E|2046|NIN|protein_coding|CODING|ENST00000453196|exon_14_51202234_51202335 . . . 0/1:99:255,0,232 14 51202311 rs2295847 G C NON_SYNONYMOUS_CODING NIN MODERATE|MISSENSE|Caa/Gaa|Q1934E|2090|NIN|protein_coding|CODING|ENST00000382041|exon_14_51202234_51202335 . . . 0/1:99:255,0,232 14 51202311 rs2295847 G C NON_SYNONYMOUS_CODING NIN MODERATE|MISSENSE|Caa/Gaa|Q1934E|2133|NIN|protein_coding|CODING|ENST00000245441|exon_14_51202234_51202335 . . . 0/1:99:255,0,232 14 51202311 rs2295847 G C NON_SYNONYMOUS_CODING NIN MODERATE|MISSENSE|Caa/Gaa|Q1940E|2096|NIN|protein_coding|CODING|ENST00000324292|exon_14_51202234_51202335 . . . 0/1:99:255,0,232 14 51370852 rs34800262 C G NON_SYNONYMOUS_CODING ABHD12B MODERATE|MISSENSE|Cct/Gct|P228A|255|ABHD12B|protein_coding|CODING|ENST00000395752|exon_14_51370792_51370910 . 0/1:99:255,0,255 . . 14 51370852 rs34800262 C G NON_SYNONYMOUS_CODING ABHD12B MODERATE|MISSENSE|Cct/Gct|P258A|285|ABHD12B|protein_coding|CODING|ENST00000353130|exon_14_51370792_51370910 . 0/1:99:255,0,255 . . 14 51370852 rs34800262 C G NON_SYNONYMOUS_CODING ABHD12B MODERATE|MISSENSE|Cct/Gct|P335A|362|ABHD12B|protein_coding|CODING|ENST00000337334|exon_14_51370792_51370910 . 0/1:99:255,0,255 . . 14 51387782 rs946616 C T NON_SYNONYMOUS_CODING PYGL MODERATE|MISSENSE|Gtc/Atc|V188I|813|PYGL|protein_coding|CODING|ENST00000544180|exon_14_51387674_51387785 . . . 0/1:99:226,0,169 14 51387782 rs946616 C T NON_SYNONYMOUS_CODING PYGL MODERATE|MISSENSE|Gtc/Atc|V222I|819|PYGL|protein_coding|CODING|ENST00000532462|exon_14_51387674_51387785 . . . 0/1:99:226,0,169 14 51387782 rs946616 C T NON_SYNONYMOUS_CODING PYGL MODERATE|MISSENSE|Gtc/Atc|V222I|847|PYGL|protein_coding|CODING|ENST00000216392|exon_14_51387674_51387785 . . . 0/1:99:226,0,169 14 52899036 rs144886303 A C NON_SYNONYMOUS_CODING TXNDC16 MODERATE|MISSENSE|Tca/Gca|S822A|825|TXNDC16|protein_coding|CODING|ENST00000281741|exon_14_52897308_52899305 0/1:99:255,0,255 . . . 14 52937255 rs7155490 C T NON_SYNONYMOUS_CODING TXNDC16 MODERATE|MISSENSE|Gaa/Aaa|E486K|825|TXNDC16|protein_coding|CODING|ENST00000281741|exon_14_52937230_52937398 . . 0/1:99:255,0,255 0/1:99:255,0,255 14 52955198 rs147641850 G A NON_SYNONYMOUS_CODING TXNDC16 MODERATE|MISSENSE|Cca/Tca|P331S|825|TXNDC16|protein_coding|CODING|ENST00000281741|exon_14_52955081_52955204 . 0/1:99:255,0,255 . . 14 53619500 rs117525276 C G NON_SYNONYMOUS_CODING DDHD1 MODERATE|MISSENSE|gGt/gCt|G106A|771|DDHD1|protein_coding|CODING|ENST00000395610|exon_14_53619424_53619940 . . 0/1:99:147,0,220 . 14 53619500 rs117525276 C G NON_SYNONYMOUS_CODING DDHD1 MODERATE|MISSENSE|gGt/gCt|G106A|872|DDHD1|protein_coding|CODING|ENST00000357758|exon_14_53618979_53620000 . . 0/1:99:147,0,220 . 14 53619500 rs117525276 C G NON_SYNONYMOUS_CODING DDHD1 MODERATE|MISSENSE|gGt/gCt|G106A|879|DDHD1|protein_coding|CODING|ENST00000395606|exon_14_53618979_53619922 . . 0/1:99:147,0,220 . 14 53619500 rs117525276 C G NON_SYNONYMOUS_CODING DDHD1 MODERATE|MISSENSE|gGt/gCt|G106A|900|DDHD1|protein_coding|CODING|ENST00000323669|exon_14_53618979_53619816 . . 0/1:99:147,0,220 . 14 55169050 . CCAGC CCAGCAGC CODON_INSERTION SAMD4A MODERATE||-/AGC|-157S|629|SAMD4A|protein_coding|CODING|ENST00000251091|exon_14_55168780_55169298 . 0/1:99:247,0,255 . . 14 55169050 . CCAGC CCAGCAGC CODON_INSERTION SAMD4A MODERATE||-/AGC|-157S|717|SAMD4A|protein_coding|CODING|ENST00000357634|exon_14_55168780_55169298 . 0/1:99:247,0,255 . . 14 55169050 . CCAGC CCAGCAGC CODON_INSERTION SAMD4A MODERATE||-/AGC|-158S|630|SAMD4A|protein_coding|CODING|ENST00000305831|exon_14_55168780_55169298 . 0/1:99:247,0,255 . . 14 55169050 . CCAGC CCAGCAGC CODON_INSERTION SAMD4A MODERATE||-/AGC|-158S|718|SAMD4A|protein_coding|CODING|ENST00000392067|exon_14_55168780_55169298 . 0/1:99:247,0,255 . . 14 55169050 . CCAGC CCAGCAGC CODON_INSERTION SAMD4A MODERATE||-/AGC|-158S|718|SAMD4A|protein_coding|CODING|ENST00000554335|exon_14_55168780_55169298 . 0/1:99:247,0,255 . . 14 57075920 rs17776256 G T NON_SYNONYMOUS_CODING C14orf101 MODERATE|MISSENSE|Gcc/Tcc|A245S|409|C14orf101|protein_coding|CODING|ENST00000538838|exon_14_57075824_57076003 . 0/1:99:210,0,255 . 0/1:99:218,0,255 14 57075920 rs17776256 G T NON_SYNONYMOUS_CODING C14orf101 MODERATE|MISSENSE|Gcc/Tcc|A245S|707|C14orf101|protein_coding|CODING|ENST00000261556|exon_14_57075824_57076003 . 0/1:99:210,0,255 . 0/1:99:218,0,255 14 57114097 . G C NON_SYNONYMOUS_CODING C14orf101 MODERATE|MISSENSE|aGa/aCa|R203T|241|C14orf101|protein_coding|CODING|ENST00000536419|exon_14_57113961_57114570 . 0/1:99:255,0,249 . . 14 57114097 . G C NON_SYNONYMOUS_CODING C14orf101 MODERATE|MISSENSE|aGa/aCa|R669T|707|C14orf101|protein_coding|CODING|ENST00000261556|exon_14_57113961_57116233 . 0/1:99:255,0,249 . . 14 57268667 rs148469976 A C NON_SYNONYMOUS_CODING OTX2 MODERATE|MISSENSE|cTc/cGc|L219R|289|OTX2|protein_coding|CODING|ENST00000408990|exon_14_57268448_57269073 . 0/1:99:255,0,246 . . 14 57268667 rs148469976 A C NON_SYNONYMOUS_CODING OTX2 MODERATE|MISSENSE|cTc/cGc|L219R|289|OTX2|protein_coding|CODING|ENST00000555006|exon_14_57268453_57269073 . 0/1:99:255,0,246 . . 14 57268667 rs148469976 A C NON_SYNONYMOUS_CODING OTX2 MODERATE|MISSENSE|cTc/cGc|L227R|237|OTX2|protein_coding|CODING|ENST00000554845|exon_14_57268631_57269073 . 0/1:99:255,0,246 . . 14 57268667 rs148469976 A C NON_SYNONYMOUS_CODING OTX2 MODERATE|MISSENSE|cTc/cGc|L227R|297|OTX2|protein_coding|CODING|ENST00000339475|exon_14_57267426_57269073 . 0/1:99:255,0,246 . . 14 57672715 rs3742578 C T NON_SYNONYMOUS_CODING AL391152.1 MODERATE|MISSENSE|Cat/Tat|H46Y|56|AL391152.1|protein_coding|CODING|ENST00000391612|exon_14_57671888_57673291 0/1:99:255,0,255 . . 0/1:99:255,0,219 14 57755564 rs35759976 G A NON_SYNONYMOUS_CODING MUDENG MODERATE|MISSENSE|Gcc/Acc|A479T|490|MUDENG|protein_coding|CODING|ENST00000261558|exon_14_57755520_57756797 0/1:99:255,0,255 . . . 14 57755564 rs35759976 G A NON_SYNONYMOUS_CODING MUDENG MODERATE|MISSENSE|Gcc/Acc|A493T|504|MUDENG|protein_coding|CODING|ENST00000431972|exon_14_57755520_57755643 0/1:99:255,0,255 . . . 14 59821916 rs140363428 G A NON_SYNONYMOUS_CODING DAAM1 MODERATE|MISSENSE|aGt/aAt|S797N|1068|DAAM1|protein_coding|CODING|ENST00000360909|exon_14_59821883_59822051 0/1:99:255,0,255 . . . 14 59821916 rs140363428 G A NON_SYNONYMOUS_CODING DAAM1 MODERATE|MISSENSE|aGt/aAt|S807N|1078|DAAM1|protein_coding|CODING|ENST00000351081|exon_14_59821883_59822051 0/1:99:255,0,255 . . . 14 59821916 rs140363428 G A NON_SYNONYMOUS_CODING DAAM1 MODERATE|MISSENSE|aGt/aAt|S807N|1078|DAAM1|protein_coding|CODING|ENST00000395125|exon_14_59821883_59822051 0/1:99:255,0,255 . . . 14 60395025 rs145698407 G A NON_SYNONYMOUS_CODING LRRC9 MODERATE|MISSENSE|Gaa/Aaa|E30K|113|LRRC9|protein_coding|CODING|ENST00000570145|exon_14_60394986_60395204 0/1:99:255,0,255 . . . 14 60395025 rs145698407 G A NON_SYNONYMOUS_CODING LRRC9 MODERATE|MISSENSE|Gaa/Aaa|E30K|1453|LRRC9|protein_coding|CODING|ENST00000445360|exon_14_60394986_60395204 0/1:99:255,0,255 . . . 14 60585131 rs308998 A G NON_SYNONYMOUS_CODING C14orf135 MODERATE|MISSENSE|Aaa/Gaa|K321E|873|C14orf135|protein_coding|CODING|ENST00000406949|exon_14_60585047_60585410 . . . 0/1:99:224,0,238 14 60585131 rs308998 A G NON_SYNONYMOUS_CODING C14orf135 MODERATE|MISSENSE|Aaa/Gaa|K321E|938|C14orf135|protein_coding|CODING|ENST00000317623|exon_14_60585047_60585410 . . . 0/1:99:224,0,238 14 60585131 rs308998 A G NON_SYNONYMOUS_CODING C14orf135 MODERATE|MISSENSE|Aaa/Gaa|K555E|1172|C14orf135|protein_coding|CODING|ENST00000404681|exon_14_60585047_60585410 . . . 0/1:99:224,0,238 14 60585131 rs308998 A G NON_SYNONYMOUS_CODING C14orf135 MODERATE|MISSENSE|Aaa/Gaa|K555E|1172|C14orf135|protein_coding|CODING|ENST00000406854|exon_14_60585047_60585410 . . . 0/1:99:224,0,238 14 60591887 rs167437 G A NON_SYNONYMOUS_CODING C14orf135 MODERATE|MISSENSE|Ggt/Agt|G1000S|1172|C14orf135|protein_coding|CODING|ENST00000404681|exon_14_60590936_60591969 . . . 0/1:99:255,0,208 14 60591887 rs167437 G A NON_SYNONYMOUS_CODING C14orf135 MODERATE|MISSENSE|Ggt/Agt|G1000S|1172|C14orf135|protein_coding|CODING|ENST00000406854|exon_14_60590936_60591969 . . . 0/1:99:255,0,208 14 60591887 rs167437 G A NON_SYNONYMOUS_CODING C14orf135 MODERATE|MISSENSE|Ggt/Agt|G207S|298|C14orf135|protein_coding|CODING|ENST00000535349|exon_14_60590936_60591969 . . . 0/1:99:255,0,208 14 60591887 rs167437 G A NON_SYNONYMOUS_CODING C14orf135 MODERATE|MISSENSE|Ggt/Agt|G766S|873|C14orf135|protein_coding|CODING|ENST00000406949|exon_14_60590936_60591969 . . . 0/1:99:255,0,208 14 60591887 rs167437 G A NON_SYNONYMOUS_CODING C14orf135 MODERATE|MISSENSE|Ggt/Agt|G766S|938|C14orf135|protein_coding|CODING|ENST00000317623|exon_14_60590936_60591969 . . . 0/1:99:255,0,208 14 60749576 . C T NON_SYNONYMOUS_CODING PPM1A MODERATE|MISSENSE|tCg/tTg|S125L|455|PPM1A|protein_coding|CODING|ENST00000325642|exon_14_60749402_60750255 . . 0/1:99:255,0,255 . 14 60749576 . C T NON_SYNONYMOUS_CODING PPM1A MODERATE|MISSENSE|tCg/tTg|S52L|127|PPM1A|protein_coding|CODING|ENST00000528241|exon_14_60749402_60749807 . . 0/1:99:255,0,255 . 14 60749576 . C T NON_SYNONYMOUS_CODING PPM1A MODERATE|MISSENSE|tCg/tTg|S52L|147|PPM1A|protein_coding|CODING|ENST00000531937|exon_14_60749402_60749865 . . 0/1:99:255,0,255 . 14 60749576 . C T NON_SYNONYMOUS_CODING PPM1A MODERATE|MISSENSE|tCg/tTg|S52L|186|PPM1A|protein_coding|CODING|ENST00000525399|exon_14_60749402_60749984 . . 0/1:99:255,0,255 . 14 60749576 . C T NON_SYNONYMOUS_CODING PPM1A MODERATE|MISSENSE|tCg/tTg|S52L|324|PPM1A|protein_coding|CODING|ENST00000325658|exon_14_60749402_60750255 . . 0/1:99:255,0,255 . 14 60749576 . C T NON_SYNONYMOUS_CODING PPM1A MODERATE|MISSENSE|tCg/tTg|S52L|382|PPM1A|protein_coding|CODING|ENST00000395076|exon_14_60749402_60750255 . . 0/1:99:255,0,255 . 14 60749576 . C T NON_SYNONYMOUS_CODING PPM1A MODERATE|MISSENSE|tCg/tTg|S52L|382|PPM1A|protein_coding|CODING|ENST00000529574|exon_14_60749402_60750255 . . 0/1:99:255,0,255 . 14 60976501 rs146737847 G A NON_SYNONYMOUS_CODING SIX6 MODERATE|MISSENSE|Gaa/Aaa|E129K|246|SIX6|protein_coding|CODING|ENST00000327720|exon_14_60975669_60976688 . 0/1:99:255,0,255 . . 14 62207557 rs11549465 C T NON_SYNONYMOUS_CODING HIF1A MODERATE|MISSENSE|Cca/Tca|P333S|577|HIF1A|protein_coding|CODING|ENST00000539494|exon_14_62207473_62207906 . . 0/1:99:255,0,223 . 14 62207557 rs11549465 C T NON_SYNONYMOUS_CODING HIF1A MODERATE|MISSENSE|Cca/Tca|P523S|767|HIF1A|protein_coding|CODING|ENST00000394988|exon_14_62207473_62207906 . . 0/1:99:255,0,223 . 14 62207557 rs11549465 C T NON_SYNONYMOUS_CODING HIF1A MODERATE|MISSENSE|Cca/Tca|P523S|767|HIF1A|protein_coding|CODING|ENST00000557538|exon_14_62207473_62207906 . . 0/1:99:255,0,223 . 14 62207557 rs11549465 C T NON_SYNONYMOUS_CODING HIF1A MODERATE|MISSENSE|Cca/Tca|P582S|735|HIF1A|protein_coding|CODING|ENST00000323441|exon_14_62207473_62207906 . . 0/1:99:255,0,223 . 14 62207557 rs11549465 C T NON_SYNONYMOUS_CODING HIF1A MODERATE|MISSENSE|Cca/Tca|P582S|826|HIF1A|protein_coding|CODING|ENST00000337138|exon_14_62207473_62207906 . . 0/1:99:255,0,223 . 14 62207557 rs11549465 C T NON_SYNONYMOUS_CODING HIF1A MODERATE|MISSENSE|Cca/Tca|P583S|827|HIF1A|protein_coding|CODING|ENST00000394997|exon_14_62207473_62207906 . . 0/1:99:255,0,223 . 14 62207557 rs11549465 C T NON_SYNONYMOUS_CODING HIF1A MODERATE|MISSENSE|Cca/Tca|P606S|850|HIF1A|protein_coding|CODING|ENST00000539097|exon_14_62207473_62207906 . . 0/1:99:255,0,223 . 14 64447776 rs9944035 T C NON_SYNONYMOUS_CODING SYNE2 MODERATE|MISSENSE|aTa/aCa|I574T|6818|SYNE2|protein_coding|CODING|ENST00000554584|exon_14_64447704_64447891 0/1:99:255,0,255 . . . 14 64447776 rs9944035 T C NON_SYNONYMOUS_CODING SYNE2 MODERATE|MISSENSE|aTa/aCa|I574T|6824|SYNE2|protein_coding|CODING|ENST00000261678|exon_14_64447704_64447891 0/1:99:255,0,255 . . . 14 64447776 rs9944035 T C NON_SYNONYMOUS_CODING SYNE2 MODERATE|MISSENSE|aTa/aCa|I574T|6885|SYNE2|protein_coding|CODING|ENST00000344113|exon_14_64447704_64447891 0/1:99:255,0,255 . . . 14 64447776 rs9944035 T C NON_SYNONYMOUS_CODING SYNE2 MODERATE|MISSENSE|aTa/aCa|I574T|6907|SYNE2|protein_coding|CODING|ENST00000358025|exon_14_64447704_64447891 0/1:99:255,0,255 . . . 14 64469828 rs17751301 C T NON_SYNONYMOUS_CODING SYNE2 MODERATE|MISSENSE|Cgg/Tgg|R1393W|6818|SYNE2|protein_coding|CODING|ENST00000554584|exon_14_64469438_64470048 . 1/1:99:255,90,0 . . 14 64469828 rs17751301 C T NON_SYNONYMOUS_CODING SYNE2 MODERATE|MISSENSE|Cgg/Tgg|R1393W|6824|SYNE2|protein_coding|CODING|ENST00000261678|exon_14_64469438_64470048 . 1/1:99:255,90,0 . . 14 64469828 rs17751301 C T NON_SYNONYMOUS_CODING SYNE2 MODERATE|MISSENSE|Cgg/Tgg|R1393W|6885|SYNE2|protein_coding|CODING|ENST00000344113|exon_14_64469438_64470048 . 1/1:99:255,90,0 . . 14 64469828 rs17751301 C T NON_SYNONYMOUS_CODING SYNE2 MODERATE|MISSENSE|Cgg/Tgg|R1393W|6907|SYNE2|protein_coding|CODING|ENST00000358025|exon_14_64469438_64470048 . 1/1:99:255,90,0 . . 14 64518321 rs11628107 A G NON_SYNONYMOUS_CODING SYNE2 MODERATE|MISSENSE|Ata/Gta|I2564V|6885|SYNE2|protein_coding|CODING|ENST00000344113|exon_14_64518275_64520375 0/1:99:255,0,255 . 0/1:99:255,0,255 . 14 64518321 rs11628107 A G NON_SYNONYMOUS_CODING SYNE2 MODERATE|MISSENSE|Ata/Gta|I2564V|6907|SYNE2|protein_coding|CODING|ENST00000358025|exon_14_64518275_64520375 0/1:99:255,0,255 . 0/1:99:255,0,255 . 14 64518321 rs11628107 A G NON_SYNONYMOUS_CODING SYNE2 MODERATE|MISSENSE|Ata/Gta|I2597V|6818|SYNE2|protein_coding|CODING|ENST00000554584|exon_14_64518275_64520375 0/1:99:255,0,255 . 0/1:99:255,0,255 . 14 64518321 rs11628107 A G NON_SYNONYMOUS_CODING SYNE2 MODERATE|MISSENSE|Ata/Gta|I2597V|6824|SYNE2|protein_coding|CODING|ENST00000261678|exon_14_64518275_64520375 0/1:99:255,0,255 . 0/1:99:255,0,255 . 14 64519709 rs34843668 A T NON_SYNONYMOUS_CODING SYNE2 MODERATE|MISSENSE|gaA/gaT|E3026D|6885|SYNE2|protein_coding|CODING|ENST00000344113|exon_14_64518275_64520375 0/1:99:236,0,255 . 0/1:99:255,0,255 . 14 64519709 rs34843668 A T NON_SYNONYMOUS_CODING SYNE2 MODERATE|MISSENSE|gaA/gaT|E3026D|6907|SYNE2|protein_coding|CODING|ENST00000358025|exon_14_64518275_64520375 0/1:99:236,0,255 . 0/1:99:255,0,255 . 14 64519709 rs34843668 A T NON_SYNONYMOUS_CODING SYNE2 MODERATE|MISSENSE|gaA/gaT|E3059D|6818|SYNE2|protein_coding|CODING|ENST00000554584|exon_14_64518275_64520375 0/1:99:236,0,255 . 0/1:99:255,0,255 . 14 64519709 rs34843668 A T NON_SYNONYMOUS_CODING SYNE2 MODERATE|MISSENSE|gaA/gaT|E3059D|6824|SYNE2|protein_coding|CODING|ENST00000261678|exon_14_64518275_64520375 0/1:99:236,0,255 . 0/1:99:255,0,255 . 14 64520020 rs11847087 A G NON_SYNONYMOUS_CODING SYNE2 MODERATE|MISSENSE|aAt/aGt|N3130S|6885|SYNE2|protein_coding|CODING|ENST00000344113|exon_14_64518275_64520375 0/1:99:228,0,255 . . . 14 64520020 rs11847087 A G NON_SYNONYMOUS_CODING SYNE2 MODERATE|MISSENSE|aAt/aGt|N3130S|6907|SYNE2|protein_coding|CODING|ENST00000358025|exon_14_64518275_64520375 0/1:99:228,0,255 . . . 14 64520020 rs11847087 A G NON_SYNONYMOUS_CODING SYNE2 MODERATE|MISSENSE|aAt/aGt|N3163S|6818|SYNE2|protein_coding|CODING|ENST00000554584|exon_14_64518275_64520375 0/1:99:228,0,255 . . . 14 64520020 rs11847087 A G NON_SYNONYMOUS_CODING SYNE2 MODERATE|MISSENSE|aAt/aGt|N3163S|6824|SYNE2|protein_coding|CODING|ENST00000261678|exon_14_64518275_64520375 0/1:99:228,0,255 . . . 14 64557734 rs10137972 A C NON_SYNONYMOUS_CODING SYNE2 MODERATE|MISSENSE|Aat/Cat|N367H|3270|SYNE2|protein_coding|CODING|ENST00000357395|exon_14_64557584_64557766 0/1:99:236,0,255 . . . 14 64557734 rs10137972 A C NON_SYNONYMOUS_CODING SYNE2 MODERATE|MISSENSE|Aat/Cat|N367H|3270|SYNE2|protein_coding|CODING|ENST00000394768|exon_14_64557584_64557766 0/1:99:236,0,255 . . . 14 64557734 rs10137972 A C NON_SYNONYMOUS_CODING SYNE2 MODERATE|MISSENSE|Aat/Cat|N3982H|6885|SYNE2|protein_coding|CODING|ENST00000344113|exon_14_64557584_64557766 0/1:99:236,0,255 . . . 14 64557734 rs10137972 A C NON_SYNONYMOUS_CODING SYNE2 MODERATE|MISSENSE|Aat/Cat|N3982H|6907|SYNE2|protein_coding|CODING|ENST00000358025|exon_14_64557584_64557766 0/1:99:236,0,255 . . . 14 64557734 rs10137972 A C NON_SYNONYMOUS_CODING SYNE2 MODERATE|MISSENSE|Aat/Cat|N4015H|6818|SYNE2|protein_coding|CODING|ENST00000554584|exon_14_64557584_64557766 0/1:99:236,0,255 . . . 14 64557734 rs10137972 A C NON_SYNONYMOUS_CODING SYNE2 MODERATE|MISSENSE|Aat/Cat|N4015H|6824|SYNE2|protein_coding|CODING|ENST00000261678|exon_14_64557584_64557766 0/1:99:236,0,255 . . . 14 64557734 rs10137972 A C NON_SYNONYMOUS_CODING SYNE2 MODERATE|MISSENSE|Aat/Cat|N616H|3541|SYNE2|protein_coding|CODING|ENST00000555002|exon_14_64557584_64557766 0/1:99:236,0,255 . . . 14 64604592 rs17766354 C G NON_SYNONYMOUS_CODING SYNE2 MODERATE|MISSENSE|Cct/Gct|P1297A|3270|SYNE2|protein_coding|CODING|ENST00000357395|exon_14_64604505_64604701 0/1:99:255,0,195 . . . 14 64604592 rs17766354 C G NON_SYNONYMOUS_CODING SYNE2 MODERATE|MISSENSE|Cct/Gct|P1297A|3270|SYNE2|protein_coding|CODING|ENST00000394768|exon_14_64604505_64604701 0/1:99:255,0,195 . . . 14 64604592 rs17766354 C G NON_SYNONYMOUS_CODING SYNE2 MODERATE|MISSENSE|Cct/Gct|P1546A|3541|SYNE2|protein_coding|CODING|ENST00000555002|exon_14_64604505_64604701 0/1:99:255,0,195 . . . 14 64604592 rs17766354 C G NON_SYNONYMOUS_CODING SYNE2 MODERATE|MISSENSE|Cct/Gct|P4829A|6818|SYNE2|protein_coding|CODING|ENST00000554584|exon_14_64604505_64604701 0/1:99:255,0,195 . . . 14 64604592 rs17766354 C G NON_SYNONYMOUS_CODING SYNE2 MODERATE|MISSENSE|Cct/Gct|P4829A|6824|SYNE2|protein_coding|CODING|ENST00000261678|exon_14_64604505_64604719 0/1:99:255,0,195 . . . 14 64604592 rs17766354 C G NON_SYNONYMOUS_CODING SYNE2 MODERATE|MISSENSE|Cct/Gct|P4912A|6885|SYNE2|protein_coding|CODING|ENST00000344113|exon_14_64604505_64604701 0/1:99:255,0,195 . . . 14 64604592 rs17766354 C G NON_SYNONYMOUS_CODING SYNE2 MODERATE|MISSENSE|Cct/Gct|P4912A|6907|SYNE2|protein_coding|CODING|ENST00000358025|exon_14_64604505_64604701 0/1:99:255,0,195 . . . 14 64604595 rs12881815 G A NON_SYNONYMOUS_CODING SYNE2 MODERATE|MISSENSE|Gaa/Aaa|E1298K|3270|SYNE2|protein_coding|CODING|ENST00000357395|exon_14_64604505_64604701 . 0/1:99:255,0,255 . . 14 64604595 rs12881815 G A NON_SYNONYMOUS_CODING SYNE2 MODERATE|MISSENSE|Gaa/Aaa|E1298K|3270|SYNE2|protein_coding|CODING|ENST00000394768|exon_14_64604505_64604701 . 0/1:99:255,0,255 . . 14 64604595 rs12881815 G A NON_SYNONYMOUS_CODING SYNE2 MODERATE|MISSENSE|Gaa/Aaa|E1547K|3541|SYNE2|protein_coding|CODING|ENST00000555002|exon_14_64604505_64604701 . 0/1:99:255,0,255 . . 14 64604595 rs12881815 G A NON_SYNONYMOUS_CODING SYNE2 MODERATE|MISSENSE|Gaa/Aaa|E4830K|6818|SYNE2|protein_coding|CODING|ENST00000554584|exon_14_64604505_64604701 . 0/1:99:255,0,255 . . 14 64604595 rs12881815 G A NON_SYNONYMOUS_CODING SYNE2 MODERATE|MISSENSE|Gaa/Aaa|E4830K|6824|SYNE2|protein_coding|CODING|ENST00000261678|exon_14_64604505_64604719 . 0/1:99:255,0,255 . . 14 64604595 rs12881815 G A NON_SYNONYMOUS_CODING SYNE2 MODERATE|MISSENSE|Gaa/Aaa|E4913K|6885|SYNE2|protein_coding|CODING|ENST00000344113|exon_14_64604505_64604701 . 0/1:99:255,0,255 . . 14 64604595 rs12881815 G A NON_SYNONYMOUS_CODING SYNE2 MODERATE|MISSENSE|Gaa/Aaa|E4913K|6907|SYNE2|protein_coding|CODING|ENST00000358025|exon_14_64604505_64604701 . 0/1:99:255,0,255 . . 14 64633984 rs17179194 G A NON_SYNONYMOUS_CODING SYNE2 MODERATE|MISSENSE|Gat/Aat|D1932N|3270|SYNE2|protein_coding|CODING|ENST00000357395|exon_14_64633951_64634105 . . . 0/1:99:239,0,255 14 64633984 rs17179194 G A NON_SYNONYMOUS_CODING SYNE2 MODERATE|MISSENSE|Gat/Aat|D1932N|3270|SYNE2|protein_coding|CODING|ENST00000394768|exon_14_64633951_64634105 . . . 0/1:99:239,0,255 14 64633984 rs17179194 G A NON_SYNONYMOUS_CODING SYNE2 MODERATE|MISSENSE|Gat/Aat|D2181N|3541|SYNE2|protein_coding|CODING|ENST00000555002|exon_14_64633951_64634105 . . . 0/1:99:239,0,255 14 64633984 rs17179194 G A NON_SYNONYMOUS_CODING SYNE2 MODERATE|MISSENSE|Gat/Aat|D5422N|6818|SYNE2|protein_coding|CODING|ENST00000554584|exon_14_64633951_64634105 . . . 0/1:99:239,0,255 14 64633984 rs17179194 G A NON_SYNONYMOUS_CODING SYNE2 MODERATE|MISSENSE|Gat/Aat|D5428N|6824|SYNE2|protein_coding|CODING|ENST00000261678|exon_14_64633951_64634105 . . . 0/1:99:239,0,255 14 64633984 rs17179194 G A NON_SYNONYMOUS_CODING SYNE2 MODERATE|MISSENSE|Gat/Aat|D5547N|6885|SYNE2|protein_coding|CODING|ENST00000344113|exon_14_64633951_64634105 . . . 0/1:99:239,0,255 14 64633984 rs17179194 G A NON_SYNONYMOUS_CODING SYNE2 MODERATE|MISSENSE|Gat/Aat|D5547N|6907|SYNE2|protein_coding|CODING|ENST00000358025|exon_14_64633951_64634105 . . . 0/1:99:239,0,255 14 64935852 . C T NON_SYNONYMOUS_CODING AKAP5 MODERATE|MISSENSE|gCa/gTa|A247V|427|AKAP5|protein_coding|CODING|ENST00000320636|exon_14_64933825_64936425 . . . 0/1:99:222,0,254 14 64935852 . C T NON_SYNONYMOUS_CODING AKAP5 MODERATE|MISSENSE|gCa/gTa|A247V|427|AKAP5|protein_coding|CODING|ENST00000394718|exon_14_64934850_64936396 . . . 0/1:99:222,0,254 14 64988830 rs45512391 C A NON_SYNONYMOUS_CODING ZBTB1 MODERATE|MISSENSE|aCt/aAt|T203N|644|ZBTB1|protein_coding|CODING|ENST00000358738|exon_14_64988205_64990120 . 0/1:99:228,0,255 0/1:99:255,0,255 . 14 64988830 rs45512391 C A NON_SYNONYMOUS_CODING ZBTB1 MODERATE|MISSENSE|aCt/aAt|T203N|713|ZBTB1|protein_coding|CODING|ENST00000394712|exon_14_64988205_64991665 . 0/1:99:228,0,255 0/1:99:255,0,255 . 14 64988830 rs45512391 C A NON_SYNONYMOUS_CODING ZBTB1 MODERATE|MISSENSE|aCt/aAt|T203N|713|ZBTB1|protein_coding|CODING|ENST00000554015|exon_14_64988205_64990616 . 0/1:99:228,0,255 0/1:99:255,0,255 . 14 65209867 rs229649 C T NON_SYNONYMOUS_CODING PLEKHG3 MODERATE|MISSENSE|Cgg/Tgg|R1036W|1219|PLEKHG3|protein_coding|CODING|ENST00000394691|exon_14_65209700_65211010 . . . 0/1:97:94,0,239 14 65209867 rs229649 C T NON_SYNONYMOUS_CODING PLEKHG3 MODERATE|MISSENSE|Cgg/Tgg|R541W|724|PLEKHG3|protein_coding|CODING|ENST00000484731|exon_14_65209700_65211063 . . . 0/1:97:94,0,239 14 65209867 rs229649 C T NON_SYNONYMOUS_CODING PLEKHG3 MODERATE|MISSENSE|Cgg/Tgg|R569W|752|PLEKHG3|protein_coding|CODING|ENST00000471182|exon_14_65209700_65211061 . . . 0/1:97:94,0,239 14 65209867 rs229649 C T NON_SYNONYMOUS_CODING PLEKHG3 MODERATE|MISSENSE|Cgg/Tgg|R980W|1163|PLEKHG3|protein_coding|CODING|ENST00000247226|exon_14_65209700_65213610 . . . 0/1:97:94,0,239 14 68108962 . TACAACAAC TACAAC CODON_DELETION ARG2 MODERATE||aac/-|N84-|354|ARG2|protein_coding|CODING|ENST00000261783|exon_14_68108903_68109080 . . . 0/1:99:255,0,255 14 69257858 rs36045050 C T NON_SYNONYMOUS_CODING ZFP36L1 MODERATE|MISSENSE|gGg/gAg|G16E|69|ZFP36L1|protein_coding|CODING|ENST00000555997|exon_14_69257700_69257960 . . 0/1:99:188,0,255 0/1:99:157,0,183 14 69341653 rs11557769 T A NON_SYNONYMOUS_CODING ACTN1 MODERATE|MISSENSE|Acc/Tcc|T798S|822|ACTN1|protein_coding|CODING|ENST00000376839|exon_14_69341500_69341734 . 1/1:99:255,93,0 . . 14 69341653 rs11557769 T A NON_SYNONYMOUS_CODING ACTN1 MODERATE|MISSENSE|Acc/Tcc|T863S|887|ACTN1|protein_coding|CODING|ENST00000438964|exon_14_69341403_69341734 . 1/1:99:255,93,0 . . 14 69341653 rs11557769 T A NON_SYNONYMOUS_CODING ACTN1 MODERATE|MISSENSE|Acc/Tcc|T868S|892|ACTN1|protein_coding|CODING|ENST00000193403|exon_14_69340860_69341734 . 1/1:99:255,93,0 . . 14 69341653 rs11557769 T A NON_SYNONYMOUS_CODING ACTN1 MODERATE|MISSENSE|Acc/Tcc|T890S|914|ACTN1|protein_coding|CODING|ENST00000394419|exon_14_69341040_69341734 . 1/1:99:255,93,0 . . 14 69341653 rs11557769 T A NON_SYNONYMOUS_CODING ACTN1 MODERATE|MISSENSE|Acc/Tcc|T906S|930|ACTN1|protein_coding|CODING|ENST00000538545|exon_14_69341576_69341863 . 1/1:99:255,93,0 . . 14 69341658 rs77499007 G A NON_SYNONYMOUS_CODING ACTN1 MODERATE|MISSENSE|cCc/cTc|P796L|822|ACTN1|protein_coding|CODING|ENST00000376839|exon_14_69341500_69341734 0/1:99:232,0,213 . . . 14 69341658 rs77499007 G A NON_SYNONYMOUS_CODING ACTN1 MODERATE|MISSENSE|cCc/cTc|P861L|887|ACTN1|protein_coding|CODING|ENST00000438964|exon_14_69341403_69341734 0/1:99:232,0,213 . . . 14 69341658 rs77499007 G A NON_SYNONYMOUS_CODING ACTN1 MODERATE|MISSENSE|cCc/cTc|P866L|892|ACTN1|protein_coding|CODING|ENST00000193403|exon_14_69340860_69341734 0/1:99:232,0,213 . . . 14 69341658 rs77499007 G A NON_SYNONYMOUS_CODING ACTN1 MODERATE|MISSENSE|cCc/cTc|P888L|914|ACTN1|protein_coding|CODING|ENST00000394419|exon_14_69341040_69341734 0/1:99:232,0,213 . . . 14 69341658 rs77499007 G A NON_SYNONYMOUS_CODING ACTN1 MODERATE|MISSENSE|cCc/cTc|P904L|930|ACTN1|protein_coding|CODING|ENST00000538545|exon_14_69341576_69341863 0/1:99:232,0,213 . . . 14 70252869 rs202007233 G A NON_SYNONYMOUS_CODING SLC10A1 MODERATE|MISSENSE|aCc/aTc|T171I|349|SLC10A1|protein_coding|CODING|ENST00000216540|exon_14_70252814_70253024 . . 0/1:99:249,0,255 . 14 70924697 rs45545935 A G NON_SYNONYMOUS_CODING ADAM21 MODERATE|MISSENSE|Ata/Gta|I161V|722|ADAM21|protein_coding|CODING|ENST00000267499|exon_14_70924217_70926622 0/1:60:57,0,255 . . . 14 70989851 rs78610973 C T NON_SYNONYMOUS_CODING ADAM20 MODERATE|MISSENSE|Ggt/Agt|G592S|776|ADAM20|protein_coding|CODING|ENST00000256389|exon_14_70989078_70991650 0/1:99:255,0,255 . . . 14 71197570 rs147509181 T A NON_SYNONYMOUS_CODING MAP3K9 MODERATE|MISSENSE|Acc/Tcc|T664S|820|MAP3K9|protein_coding|CODING|ENST00000542284|exon_14_71196852_71197581 . . . 0/1:99:125,0,121 14 71197570 rs147509181 T A NON_SYNONYMOUS_CODING MAP3K9 MODERATE|MISSENSE|Acc/Tcc|T676S|832|MAP3K9|protein_coding|CODING|ENST00000554146|exon_14_71196852_71197581 . . . 0/1:99:125,0,121 14 71197570 rs147509181 T A NON_SYNONYMOUS_CODING MAP3K9 MODERATE|MISSENSE|Acc/Tcc|T681S|837|MAP3K9|protein_coding|CODING|ENST00000553414|exon_14_71196383_71197581 . . . 0/1:99:125,0,121 14 71197570 rs147509181 T A NON_SYNONYMOUS_CODING MAP3K9 MODERATE|MISSENSE|Acc/Tcc|T925S|1081|MAP3K9|protein_coding|CODING|ENST00000381250|exon_14_71196653_71197581 . . . 0/1:99:125,0,121 14 71197570 rs147509181 T A NON_SYNONYMOUS_CODING MAP3K9 MODERATE|MISSENSE|Acc/Tcc|T948S|1104|MAP3K9|protein_coding|CODING|ENST00000554752|exon_14_71189243_71197581 . . . 0/1:99:125,0,121 14 71197570 rs147509181 T A NON_SYNONYMOUS_CODING MAP3K9 MODERATE|MISSENSE|Acc/Tcc|T962S|1118|MAP3K9|protein_coding|CODING|ENST00000555993|exon_14_71196368_71197581 . . . 0/1:99:125,0,121 14 73017173 rs75447519 A T NON_SYNONYMOUS_CODING RGS6 MODERATE|MISSENSE|Act/Tct|T530S|539|RGS6|protein_coding|CODING|ENST00000434263|exon_14_73017163_73017382 . 0/1:99:255,0,224 0/1:99:211,0,255 . 14 73408490 rs200002099 G A NON_SYNONYMOUS_CODING DCAF4 MODERATE|MISSENSE|cGa/cAa|R130Q|489|DCAF4|protein_coding|CODING|ENST00000555042|exon_14_73408453_73408532 . . 0/1:99:218,0,255 . 14 73408490 rs200002099 G A NON_SYNONYMOUS_CODING DCAF4 MODERATE|MISSENSE|cGa/cAa|R130Q|495|DCAF4|protein_coding|CODING|ENST00000358377|exon_14_73408453_73408532 . . 0/1:99:218,0,255 . 14 73408490 rs200002099 G A NON_SYNONYMOUS_CODING DCAF4 MODERATE|MISSENSE|cGa/cAa|R30Q|333|DCAF4|protein_coding|CODING|ENST00000553457|exon_14_73408453_73408532 . . 0/1:99:218,0,255 . 14 73408490 rs200002099 G A NON_SYNONYMOUS_CODING DCAF4 MODERATE|MISSENSE|cGa/cAa|R30Q|395|DCAF4|protein_coding|CODING|ENST00000394234|exon_14_73408453_73408532 . . 0/1:99:218,0,255 . 14 73711394 rs2280792 A G NON_SYNONYMOUS_CODING PAPLN MODERATE|MISSENSE|Agc/Ggc|S33G|1109|PAPLN|protein_coding|CODING|ENST00000381166|exon_14_73711352_73711467 . . . 0/1:55:52,0,207 14 73711394 rs2280792 A G NON_SYNONYMOUS_CODING PAPLN MODERATE|MISSENSE|Agc/Ggc|S33G|1251|PAPLN|protein_coding|CODING|ENST00000340738|exon_14_73711352_73711467 . . . 0/1:55:52,0,207 14 73711394 rs2280792 A G NON_SYNONYMOUS_CODING PAPLN MODERATE|MISSENSE|Agc/Ggc|S33G|1262|PAPLN|protein_coding|CODING|ENST00000555445|exon_14_73711352_73711467 . . . 0/1:55:52,0,207 14 73711394 rs2280792 A G NON_SYNONYMOUS_CODING PAPLN MODERATE|MISSENSE|Agc/Ggc|S33G|1278|PAPLN|protein_coding|CODING|ENST00000427855|exon_14_73711352_73711467 . . . 0/1:55:52,0,207 14 73711394 rs2280792 A G NON_SYNONYMOUS_CODING PAPLN MODERATE|MISSENSE|Agc/Ggc|S33G|1278|PAPLN|protein_coding|CODING|ENST00000554301|exon_14_73711352_73711467 . . . 0/1:55:52,0,207 14 73711394 rs2280792 A G NON_SYNONYMOUS_CODING PAPLN MODERATE|MISSENSE|Agc/Ggc|S33G|128|PAPLN|protein_coding|CODING|ENST00000394134|exon_14_73711352_73711467 . . . 0/1:55:52,0,207 14 73717720 rs741842 G A NON_SYNONYMOUS_CODING PAPLN MODERATE|MISSENSE|Gct/Act|A191T|1109|PAPLN|protein_coding|CODING|ENST00000381166|exon_14_73717615_73717738 . . . 0/1:99:255,0,157 14 73717720 rs741842 G A NON_SYNONYMOUS_CODING PAPLN MODERATE|MISSENSE|Gct/Act|A191T|1251|PAPLN|protein_coding|CODING|ENST00000340738|exon_14_73717615_73717738 . . . 0/1:99:255,0,157 14 73717720 rs741842 G A NON_SYNONYMOUS_CODING PAPLN MODERATE|MISSENSE|Gct/Act|A191T|1262|PAPLN|protein_coding|CODING|ENST00000555445|exon_14_73717615_73717738 . . . 0/1:99:255,0,157 14 73717720 rs741842 G A NON_SYNONYMOUS_CODING PAPLN MODERATE|MISSENSE|Gct/Act|A191T|1278|PAPLN|protein_coding|CODING|ENST00000427855|exon_14_73717615_73717738 . . . 0/1:99:255,0,157 14 73717720 rs741842 G A NON_SYNONYMOUS_CODING PAPLN MODERATE|MISSENSE|Gct/Act|A191T|1278|PAPLN|protein_coding|CODING|ENST00000554301|exon_14_73717615_73717738 . . . 0/1:99:255,0,157 14 74040136 rs151154986 G A NON_SYNONYMOUS_CODING ACOT2 MODERATE|MISSENSE|Ggt/Agt|G230S|483|ACOT2|protein_coding|CODING|ENST00000238651|exon_14_74040092_74040294 . . . 0/1:99:154,0,243 14 74040136 rs151154986 G A NON_SYNONYMOUS_CODING ACOT2 MODERATE|MISSENSE|Ggt/Agt|G33S|286|ACOT2|protein_coding|CODING|ENST00000538782|exon_14_74040092_74040294 . . . 0/1:99:154,0,243 14 74060508 rs35724886 C A NON_SYNONYMOUS_CODING ACOT4 MODERATE|MISSENSE|gCt/gAt|A187D|421|ACOT4|protein_coding|CODING|ENST00000326303|exon_14_74060406_74060608 . 0/1:99:119,0,252 . 0/1:99:171,0,255 14 74203789 rs17782124 G A NON_SYNONYMOUS_CODING C14orf43 MODERATE|MISSENSE|cCt/cTt|P554L|1017|C14orf43|protein_coding|CODING|ENST00000435371|exon_14_74203701_74204000 0/1:99:193,0,180 0/1:99:247,0,226 . 0/1:99:136,0,205 14 74203789 rs17782124 G A NON_SYNONYMOUS_CODING C14orf43 MODERATE|MISSENSE|cCt/cTt|P554L|1043|C14orf43|protein_coding|CODING|ENST00000423556|exon_14_74203701_74204000 0/1:99:193,0,180 0/1:99:247,0,226 . 0/1:99:136,0,205 14 74203789 rs17782124 G A NON_SYNONYMOUS_CODING C14orf43 MODERATE|MISSENSE|cCt/cTt|P554L|1045|C14orf43|protein_coding|CODING|ENST00000286523|exon_14_74203701_74204000 0/1:99:193,0,180 0/1:99:247,0,226 . 0/1:99:136,0,205 14 74203789 rs17782124 G A NON_SYNONYMOUS_CODING C14orf43 MODERATE|MISSENSE|cCt/cTt|P554L|1045|C14orf43|protein_coding|CODING|ENST00000394071|exon_14_74203701_74204000 0/1:99:193,0,180 0/1:99:247,0,226 . 0/1:99:136,0,205 14 74341311 . C T NON_SYNONYMOUS_CODING PTGR2 MODERATE|MISSENSE|Cgg/Tgg|R125W|129|PTGR2|protein_coding|CODING|ENST00000555976|exon_14_74341287_74341330 0/1:99:168,0,255 . . . 14 74345989 rs199906327 G C NON_SYNONYMOUS_CODING RP5-1021I20.4.1 MODERATE|MISSENSE|aGt/aCt|S103T|217|RP5-1021I20.4.1|protein_coding|CODING|ENST00000553813|exon_14_74345799_74346008 0/1:99:255,0,255 . . . 14 74345989 rs199906327 G C NON_SYNONYMOUS_CODING PTGR2 MODERATE|MISSENSE|aGt/aCt|S188T|262|PTGR2|protein_coding|CODING|ENST00000554885|exon_14_74345799_74346008 0/1:99:255,0,255 . . . 14 74345989 rs199906327 G C NON_SYNONYMOUS_CODING PTGR2 MODERATE|MISSENSE|aGt/aCt|S237T|351|PTGR2|protein_coding|CODING|ENST00000267568|exon_14_74345799_74346008 0/1:99:255,0,255 . . . 14 74345989 rs199906327 G C NON_SYNONYMOUS_CODING PTGR2 MODERATE|MISSENSE|aGt/aCt|S237T|351|PTGR2|protein_coding|CODING|ENST00000555228|exon_14_74345799_74346008 0/1:99:255,0,255 . . . 14 74345989 rs199906327 G C NON_SYNONYMOUS_CODING PTGR2 MODERATE|MISSENSE|aGt/aCt|S237T|351|PTGR2|protein_coding|CODING|ENST00000555661|exon_14_74345799_74346008 0/1:99:255,0,255 . . . 14 74428000 rs2074930 A T NON_SYNONYMOUS_CODING COQ6 MODERATE|MISSENSE|gAt/gTt|D264V|393|COQ6|protein_coding|CODING|ENST00000238709|exon_14_74427876_74428078 0/1:99:255,0,155 . . . 14 74428000 rs2074930 A T NON_SYNONYMOUS_CODING COQ6 MODERATE|MISSENSE|gAt/gTt|D314V|443|COQ6|protein_coding|CODING|ENST00000394026|exon_14_74427876_74428078 0/1:99:255,0,155 . . . 14 74428000 rs2074930 A T NON_SYNONYMOUS_CODING COQ6 MODERATE|MISSENSE|gAt/gTt|D339V|468|COQ6|protein_coding|CODING|ENST00000334571|exon_14_74427876_74428078 0/1:99:255,0,155 . . . 14 74754915 . C A NON_SYNONYMOUS_CODING ABCD4 MODERATE|MISSENSE|tgG/tgT|W414C|488|ABCD4|protein_coding|CODING|ENST00000298816|exon_14_74754910_74754962 0/1:99:255,0,207 . . . 14 74754915 . C A NON_SYNONYMOUS_CODING ABCD4 MODERATE|MISSENSE|tgG/tgT|W518C|606|ABCD4|protein_coding|CODING|ENST00000356924|exon_14_74754910_74754962 0/1:99:255,0,207 . . . 14 74823701 rs45593432 G A NON_SYNONYMOUS_CODING VRTN MODERATE|MISSENSE|cGg/cAg|R72Q|702|VRTN|protein_coding|CODING|ENST00000256362|exon_14_74823486_74826711 . 0/1:99:132,0,255 . . 14 74823701 rs45593432 G A NON_SYNONYMOUS_CODING VRTN MODERATE|MISSENSE|cGg/cAg|R72Q|82|VRTN|protein_coding|CODING|ENST00000557177|exon_14_74823486_74823736 . 0/1:99:132,0,255 . . 14 75022271 rs2304707 G T NON_SYNONYMOUS_CODING LTBP2 MODERATE|MISSENSE|cCa/cAa|P319Q|1777|LTBP2|protein_coding|CODING|ENST00000556690|exon_14_75022206_75022396 0/1:94:255,0,91 . . 0/1:99:236,0,101 14 75022271 rs2304707 G T NON_SYNONYMOUS_CODING LTBP2 MODERATE|MISSENSE|cCa/cAa|P319Q|1821|LTBP2|protein_coding|CODING|ENST00000261978|exon_14_75022206_75022396 0/1:94:255,0,91 . . 0/1:99:236,0,101 14 75230953 rs45599947 C T NON_SYNONYMOUS_CODING YLPM1 MODERATE|MISSENSE|cCt/cTt|P254L|1440|YLPM1|protein_coding|CODING|ENST00000552421|exon_14_75230069_75231065 . . 0/1:99:152,0,255 . 14 75230953 rs45599947 C T NON_SYNONYMOUS_CODING YLPM1 MODERATE|MISSENSE|cCt/cTt|P254L|1822|YLPM1|protein_coding|CODING|ENST00000238571|exon_14_75230069_75231065 . . 0/1:99:152,0,255 . 14 75230953 rs45599947 C T NON_SYNONYMOUS_CODING YLPM1 MODERATE|MISSENSE|cCt/cTt|P254L|2146|YLPM1|protein_coding|CODING|ENST00000325680|exon_14_75230069_75231065 . . 0/1:99:152,0,255 . 14 75323563 . G A NON_SYNONYMOUS_CODING PROX2 MODERATE|MISSENSE|Cgc/Tgc|R290C|365|PROX2|protein_coding|CODING|ENST00000556084|exon_14_75323504_75323698 . . . 0/1:99:255,0,255 14 75323563 . G A NON_SYNONYMOUS_CODING PROX2 MODERATE|MISSENSE|Cgc/Tgc|R517C|592|PROX2|protein_coding|CODING|ENST00000389664|exon_14_75323504_75323698 . . . 0/1:99:255,0,255 14 75323563 . G A NON_SYNONYMOUS_CODING PROX2 MODERATE|MISSENSE|Cgc/Tgc|R517C|592|PROX2|protein_coding|CODING|ENST00000445876|exon_14_75323504_75323698 . . . 0/1:99:255,0,255 14 75323563 . G A NON_SYNONYMOUS_CODING PROX2 MODERATE|MISSENSE|Cgc/Tgc|R517C|592|PROX2|protein_coding|CODING|ENST00000556489|exon_14_75323504_75323698 . . . 0/1:99:255,0,255 14 75538261 rs117100576 G A NON_SYNONYMOUS_CODING FAM164C MODERATE|MISSENSE|Gaa/Aaa|E329K|389|FAM164C|protein_coding|CODING|ENST00000238686|exon_14_75537258_75538441 . 0/1:99:255,0,255 . . 14 75538261 rs117100576 G A NON_SYNONYMOUS_CODING FAM164C MODERATE|MISSENSE|Gaa/Aaa|E329K|456|FAM164C|protein_coding|CODING|ENST00000524913|exon_14_75537258_75538614 . 0/1:99:255,0,255 . . 14 75557975 rs199604188 T C NON_SYNONYMOUS_CODING NEK9 MODERATE|MISSENSE|Aag/Gag|K814E|979|NEK9|protein_coding|CODING|ENST00000238616|exon_14_75557973_75558181 . . 0/1:99:250,0,255 . 14 76964655 rs61742642 C T NON_SYNONYMOUS_CODING ESRRB MODERATE|MISSENSE|Ccc/Tcc|P386S|433|ESRRB|protein_coding|CODING|ENST00000556177|exon_14_76964557_76964854 . 0/1:99:155,0,155 . . 14 76964655 rs61742642 C T NON_SYNONYMOUS_CODING ESRRB MODERATE|MISSENSE|Ccc/Tcc|P386S|500|ESRRB|protein_coding|CODING|ENST00000261532|exon_14_76964557_76964795 . 0/1:99:155,0,155 . . 14 76964655 rs61742642 C T NON_SYNONYMOUS_CODING ESRRB MODERATE|MISSENSE|Ccc/Tcc|P386S|508|ESRRB|protein_coding|CODING|ENST00000380887|exon_14_76964557_76964795 . 0/1:99:155,0,155 . . 14 76964655 rs61742642 C T NON_SYNONYMOUS_CODING ESRRB MODERATE|MISSENSE|Ccc/Tcc|P386S|508|ESRRB|protein_coding|CODING|ENST00000509242|exon_14_76964557_76964795 . 0/1:99:155,0,155 . . 14 76964655 rs61742642 C T NON_SYNONYMOUS_CODING ESRRB MODERATE|MISSENSE|Ccc/Tcc|P391S|507|ESRRB|protein_coding|CODING|ENST00000512784|exon_14_76964557_76964795 . 0/1:99:155,0,155 . . 14 77294930 rs61740619 G A NON_SYNONYMOUS_CODING C14orf166B MODERATE|MISSENSE|Ggg/Agg|G129R|154|C14orf166B|protein_coding|CODING|ENST00000555189|exon_14_77294634_77295012 . 1/1:99:255,99,0 0/1:99:163,0,255 . 14 77294930 rs61740619 G A NON_SYNONYMOUS_CODING C14orf166B MODERATE|MISSENSE|Ggg/Agg|G86R|154|C14orf166B|protein_coding|CODING|ENST00000216453|exon_14_77294675_77295099 . 1/1:99:255,99,0 0/1:99:163,0,255 . 14 77493631 . T C NON_SYNONYMOUS_CODING IRF2BPL MODERATE|MISSENSE|Agc/Ggc|S169G|796|IRF2BPL|protein_coding|CODING|ENST00000238647|exon_14_77490888_77495034 . 0/1:81:78,0,120 . . 14 77793237 rs7972 G A NON_SYNONYMOUS_CODING GSTZ1 MODERATE|MISSENSE|Ggg/Agg|G42R|174|GSTZ1|protein_coding|CODING|ENST00000349555|exon_14_77793181_77793248 . 0/1:99:255,0,123 . . 14 77793237 rs7972 G A NON_SYNONYMOUS_CODING GSTZ1 MODERATE|MISSENSE|Ggg/Agg|G42R|189|GSTZ1|protein_coding|CODING|ENST00000556627|exon_14_77793181_77793248 . 0/1:99:255,0,123 . . 14 77793237 rs7972 G A NON_SYNONYMOUS_CODING GSTZ1 MODERATE|MISSENSE|Ggg/Agg|G42R|202|GSTZ1|protein_coding|CODING|ENST00000554279|exon_14_77793181_77793248 . 0/1:99:255,0,123 . . 14 77793237 rs7972 G A NON_SYNONYMOUS_CODING GSTZ1 MODERATE|MISSENSE|Ggg/Agg|G42R|216|GSTZ1|protein_coding|CODING|ENST00000216465|exon_14_77793181_77793248 . 0/1:99:255,0,123 . . 14 77793237 rs7972 G A NON_SYNONYMOUS_CODING GSTZ1 MODERATE|MISSENSE|Ggg/Agg|G43R|217|GSTZ1|protein_coding|CODING|ENST00000553586|exon_14_77793181_77793248 . 0/1:99:255,0,123 . . 14 77889088 . A G NON_SYNONYMOUS_CODING NOXRED1 MODERATE|MISSENSE|Tat/Cat|Y49H|222|NOXRED1|protein_coding|CODING|ENST00000555603|exon_14_77889078_77889249 . . 0/1:99:255,0,255 . 14 77889088 . A G NON_SYNONYMOUS_CODING NOXRED1 MODERATE|MISSENSE|Tat/Cat|Y49H|250|NOXRED1|protein_coding|CODING|ENST00000298358|exon_14_77889078_77889232 . . 0/1:99:255,0,255 . 14 77889088 . A G NON_SYNONYMOUS_CODING NOXRED1 MODERATE|MISSENSE|Tat/Cat|Y49H|359|NOXRED1|protein_coding|CODING|ENST00000380835|exon_14_77889078_77889399 . . 0/1:99:255,0,255 . 14 78189181 . C T NON_SYNONYMOUS_CODING SNW1 MODERATE|MISSENSE|aGg/aAg|R287K|288|SNW1|protein_coding|CODING|ENST00000416259|exon_14_78189181_78189203 . 0/1:65:62,0,203 . . 14 81259336 rs45488095 T C NON_SYNONYMOUS_CODING CEP128 MODERATE|MISSENSE|cAg/cGg|Q443R|1094|CEP128|protein_coding|CODING|ENST00000281129|exon_14_81259104_81259454 . . . 0/1:99:255,0,204 14 81259336 rs45488095 T C NON_SYNONYMOUS_CODING CEP128 MODERATE|MISSENSE|cAg/cGg|Q443R|1094|CEP128|protein_coding|CODING|ENST00000555265|exon_14_81259104_81259454 . . . 0/1:99:255,0,204 14 81259336 rs45488095 T C NON_SYNONYMOUS_CODING CEP128 MODERATE|MISSENSE|cAg/cGg|Q443R|986|CEP128|protein_coding|CODING|ENST00000393619|exon_14_81259104_81259454 . . . 0/1:99:255,0,204 14 81422178 rs2234919 C A NON_SYNONYMOUS_CODING TSHR MODERATE|MISSENSE|Ccc/Acc|P52T|231|TSHR|protein_coding|CODING|ENST00000554263|exon_14_81421999_81422194 . 0/1:99:203,0,129 . . 14 81422178 rs2234919 C A NON_SYNONYMOUS_CODING TSHR MODERATE|MISSENSE|Ccc/Acc|P52T|253|TSHR|protein_coding|CODING|ENST00000342443|exon_14_81421775_81422194 . 0/1:99:203,0,129 . . 14 81422178 rs2234919 C A NON_SYNONYMOUS_CODING TSHR MODERATE|MISSENSE|Ccc/Acc|P52T|274|TSHR|protein_coding|CODING|ENST00000554435|exon_14_81421999_81422194 . 0/1:99:203,0,129 . . 14 81422178 rs2234919 C A NON_SYNONYMOUS_CODING TSHR MODERATE|MISSENSE|Ccc/Acc|P52T|411|TSHR|protein_coding|CODING|ENST00000412429|exon_14_81421709_81422194 . 0/1:99:203,0,129 . . 14 81422178 rs2234919 C A NON_SYNONYMOUS_CODING TSHR MODERATE|MISSENSE|Ccc/Acc|P52T|764|TSHR|protein_coding|CODING|ENST00000298171|exon_14_81421869_81422194 . 0/1:99:203,0,129 . . 14 81422178 rs2234919 C A NON_SYNONYMOUS_CODING TSHR MODERATE|MISSENSE|Ccc/Acc|P52T|764|TSHR|protein_coding|CODING|ENST00000541158|exon_14_81421869_81422194 . 0/1:99:203,0,129 . . 14 81736964 . G A NON_SYNONYMOUS_CODING STON2 MODERATE|MISSENSE|cCc/cTc|P888L|905|STON2|protein_coding|CODING|ENST00000267540|exon_14_81736851_81737216 . 0/1:99:239,0,170 . . 14 87386664 rs76413855 A G NON_SYNONYMOUS_CODING RP11-322L20.1.1 MODERATE|MISSENSE|Agc/Ggc|S47G|98|RP11-322L20.1.1|protein_coding|CODING|ENST00000557527|exon_14_87386605_87386678 . 0/1:99:255,0,255 . . 14 88442712 rs34362748 C T NON_SYNONYMOUS_CODING GALC MODERATE|MISSENSE|Gat/Aat|D192N|589|GALC|protein_coding|CODING|ENST00000544807|exon_14_88442702_88442832 . 0/1:99:206,0,255 . . 14 88442712 rs34362748 C T NON_SYNONYMOUS_CODING GALC MODERATE|MISSENSE|Gat/Aat|D222N|659|GALC|protein_coding|CODING|ENST00000393569|exon_14_88442702_88442832 . 0/1:99:206,0,255 . . 14 88442712 rs34362748 C T NON_SYNONYMOUS_CODING GALC MODERATE|MISSENSE|Gat/Aat|D225N|662|GALC|protein_coding|CODING|ENST00000393568|exon_14_88442702_88442832 . 0/1:99:206,0,255 . . 14 88442712 rs34362748 C T NON_SYNONYMOUS_CODING GALC MODERATE|MISSENSE|Gat/Aat|D248N|685|GALC|protein_coding|CODING|ENST00000261304|exon_14_88442702_88442832 . 0/1:99:206,0,255 . . 14 88442712 rs34362748 C T NON_SYNONYMOUS_CODING GALC MODERATE|MISSENSE|Gat/Aat|D37N|474|GALC|protein_coding|CODING|ENST00000539620|exon_14_88442702_88442832 . 0/1:99:206,0,255 . . 14 88459448 rs111887056 C G NON_SYNONYMOUS_CODING GALC MODERATE|MISSENSE|Gcg/Ccg|A21P|662|GALC|protein_coding|CODING|ENST00000393568|exon_14_88459314_88459522 . 0/1:98:139,0,95 . . 14 88459448 rs111887056 C G NON_SYNONYMOUS_CODING GALC MODERATE|MISSENSE|Gcg/Ccg|A21P|685|GALC|protein_coding|CODING|ENST00000261304|exon_14_88459314_88459615 . 0/1:98:139,0,95 . . 14 88459795 rs73312836 C T NON_SYNONYMOUS_CODING GALC MODERATE|MISSENSE|Gcg/Acg|A17T|659|GALC|protein_coding|CODING|ENST00000393569|exon_14_88459727_88460009 . . 0/1:99:255,0,191 . 14 88934592 rs151002751 T G NON_SYNONYMOUS_CODING PTPN21 MODERATE|MISSENSE|Agt/Cgt|S76R|128|PTPN21|protein_coding|CODING|ENST00000553531|exon_14_88934114_88934609 0/1:99:255,0,176 . . . 14 88934592 rs151002751 T G NON_SYNONYMOUS_CODING PTPN21 MODERATE|MISSENSE|agA/agC|R1138S|1174|PTPN21|protein_coding|CODING|ENST00000328736|exon_14_88932122_88934609 0/1:99:255,0,176 . . . 14 88934592 rs151002751 T G NON_SYNONYMOUS_CODING PTPN21 MODERATE|MISSENSE|agA/agC|R1138S|1174|PTPN21|protein_coding|CODING|ENST00000556564|exon_14_88932125_88934609 0/1:99:255,0,176 . . . 14 90302996 rs1111758 T G NON_SYNONYMOUS_CODING EFCAB11 MODERATE|MISSENSE|Aat/Cat|N121H|149|EFCAB11|protein_coding|CODING|ENST00000267544|exon_14_90302907_90303005 0/1:99:255,0,255 . . . 14 90429858 rs28365054 G A NON_SYNONYMOUS_CODING TDP1 MODERATE|MISSENSE|Gcc/Acc|A134T|145|TDP1|protein_coding|CODING|ENST00000553527|exon_14_90429452_90429896 . . . 0/1:99:179,0,255 14 90429858 rs28365054 G A NON_SYNONYMOUS_CODING TDP1 MODERATE|MISSENSE|Gcc/Acc|A134T|146|TDP1|protein_coding|CODING|ENST00000553989|exon_14_90429452_90429901 . . . 0/1:99:179,0,255 14 90429858 rs28365054 G A NON_SYNONYMOUS_CODING TDP1 MODERATE|MISSENSE|Gcc/Acc|A134T|150|TDP1|protein_coding|CODING|ENST00000556867|exon_14_90429452_90429913 . . . 0/1:99:179,0,255 14 90429858 rs28365054 G A NON_SYNONYMOUS_CODING TDP1 MODERATE|MISSENSE|Gcc/Acc|A134T|160|TDP1|protein_coding|CODING|ENST00000556498|exon_14_90429452_90429943 . . . 0/1:99:179,0,255 14 90429858 rs28365054 G A NON_SYNONYMOUS_CODING TDP1 MODERATE|MISSENSE|Gcc/Acc|A134T|278|TDP1|protein_coding|CODING|ENST00000554180|exon_14_90429452_90430017 . . . 0/1:99:179,0,255 14 90429858 rs28365054 G A NON_SYNONYMOUS_CODING TDP1 MODERATE|MISSENSE|Gcc/Acc|A134T|578|TDP1|protein_coding|CODING|ENST00000555880|exon_14_90429449_90430017 . . . 0/1:99:179,0,255 14 90429858 rs28365054 G A NON_SYNONYMOUS_CODING TDP1 MODERATE|MISSENSE|Gcc/Acc|A134T|589|TDP1|protein_coding|CODING|ENST00000393452|exon_14_90429452_90430017 . . . 0/1:99:179,0,255 14 90429858 rs28365054 G A NON_SYNONYMOUS_CODING TDP1 MODERATE|MISSENSE|Gcc/Acc|A134T|608|TDP1|protein_coding|CODING|ENST00000335725|exon_14_90429452_90430017 . . . 0/1:99:179,0,255 14 90429858 rs28365054 G A NON_SYNONYMOUS_CODING TDP1 MODERATE|MISSENSE|Gcc/Acc|A134T|608|TDP1|protein_coding|CODING|ENST00000393454|exon_14_90429452_90430017 . . . 0/1:99:179,0,255 14 90429858 rs28365054 G A NON_SYNONYMOUS_CODING TDP1 MODERATE|MISSENSE|Gcc/Acc|A35T|218|TDP1|protein_coding|CODING|ENST00000553617|exon_14_90429569_90430017 . . . 0/1:99:179,0,255 14 90756862 rs45462994 C G NON_SYNONYMOUS_CODING C14orf102 MODERATE|MISSENSE|ttG/ttC|L413F|933|C14orf102|protein_coding|CODING|ENST00000357904|exon_14_90756565_90756951 . . 0/1:99:255,0,255 . 14 90756862 rs45462994 C G NON_SYNONYMOUS_CODING C14orf102 MODERATE|MISSENSE|ttG/ttC|L644F|1164|C14orf102|protein_coding|CODING|ENST00000354366|exon_14_90756565_90756951 . . 0/1:99:255,0,255 . 14 91636541 . A G NON_SYNONYMOUS_CODING C14orf159 MODERATE|MISSENSE|tAc/tGc|Y151C|151|C14orf159|protein_coding|CODING|ENST00000521334|exon_14_91636347_91636545 0/1:99:255,0,159 . . . 14 91636541 . A G NON_SYNONYMOUS_CODING C14orf159 MODERATE|MISSENSE|tAc/tGc|Y151C|151|C14orf159|protein_coding|CODING|ENST00000523894|exon_14_91636347_91636545 0/1:99:255,0,159 . . . 14 91636541 . A G NON_SYNONYMOUS_CODING C14orf159 MODERATE|MISSENSE|tAc/tGc|Y151C|200|C14orf159|protein_coding|CODING|ENST00000519950|exon_14_91636347_91636545 0/1:99:255,0,159 . . . 14 91636541 . A G NON_SYNONYMOUS_CODING C14orf159 MODERATE|MISSENSE|tAc/tGc|Y151C|201|C14orf159|protein_coding|CODING|ENST00000522170|exon_14_91636347_91636545 0/1:99:255,0,159 . . . 14 91636541 . A G NON_SYNONYMOUS_CODING C14orf159 MODERATE|MISSENSE|tAc/tGc|Y151C|430|C14orf159|protein_coding|CODING|ENST00000517518|exon_14_91636347_91636545 0/1:99:255,0,159 . . . 14 91636541 . A G NON_SYNONYMOUS_CODING C14orf159 MODERATE|MISSENSE|tAc/tGc|Y151C|581|C14orf159|protein_coding|CODING|ENST00000521077|exon_14_91636347_91636545 0/1:99:255,0,159 . . . 14 91636541 . A G NON_SYNONYMOUS_CODING C14orf159 MODERATE|MISSENSE|tAc/tGc|Y151C|621|C14orf159|protein_coding|CODING|ENST00000256324|exon_14_91636347_91636545 0/1:99:255,0,159 . . . 14 91636541 . A G NON_SYNONYMOUS_CODING C14orf159 MODERATE|MISSENSE|tAc/tGc|Y151C|621|C14orf159|protein_coding|CODING|ENST00000412671|exon_14_91636347_91636545 0/1:99:255,0,159 . . . 14 91636541 . A G NON_SYNONYMOUS_CODING C14orf159 MODERATE|MISSENSE|tAc/tGc|Y151C|621|C14orf159|protein_coding|CODING|ENST00000518868|exon_14_91636347_91636545 0/1:99:255,0,159 . . . 14 91636541 . A G NON_SYNONYMOUS_CODING C14orf159 MODERATE|MISSENSE|tAc/tGc|Y22C|492|C14orf159|protein_coding|CODING|ENST00000525393|exon_14_91636531_91636545 0/1:99:255,0,159 . . . 14 91642395 rs34302825 G A NON_SYNONYMOUS_CODING C14orf159 MODERATE|MISSENSE|aGc/aAc|S113N|492|C14orf159|protein_coding|CODING|ENST00000525393|exon_14_91642278_91642400 . 0/1:99:255,0,161 . . 14 91642395 rs34302825 G A NON_SYNONYMOUS_CODING C14orf159 MODERATE|MISSENSE|aGc/aAc|S225N|564|C14orf159|protein_coding|CODING|ENST00000520328|exon_14_91642278_91642400 . 0/1:99:255,0,161 . . 14 91642395 rs34302825 G A NON_SYNONYMOUS_CODING C14orf159 MODERATE|MISSENSE|aGc/aAc|S237N|616|C14orf159|protein_coding|CODING|ENST00000428926|exon_14_91642278_91642400 . 0/1:99:255,0,161 . . 14 91642395 rs34302825 G A NON_SYNONYMOUS_CODING C14orf159 MODERATE|MISSENSE|aGc/aAc|S237N|616|C14orf159|protein_coding|CODING|ENST00000522322|exon_14_91642278_91642400 . 0/1:99:255,0,161 . . 14 91642395 rs34302825 G A NON_SYNONYMOUS_CODING C14orf159 MODERATE|MISSENSE|aGc/aAc|S237N|616|C14orf159|protein_coding|CODING|ENST00000523771|exon_14_91642278_91642400 . 0/1:99:255,0,161 . . 14 91642395 rs34302825 G A NON_SYNONYMOUS_CODING C14orf159 MODERATE|MISSENSE|aGc/aAc|S237N|616|C14orf159|protein_coding|CODING|ENST00000523816|exon_14_91642278_91642400 . 0/1:99:255,0,161 . . 14 91642395 rs34302825 G A NON_SYNONYMOUS_CODING C14orf159 MODERATE|MISSENSE|aGc/aAc|S242N|430|C14orf159|protein_coding|CODING|ENST00000517518|exon_14_91642278_91642400 . 0/1:99:255,0,161 . . 14 91642395 rs34302825 G A NON_SYNONYMOUS_CODING C14orf159 MODERATE|MISSENSE|aGc/aAc|S242N|581|C14orf159|protein_coding|CODING|ENST00000521077|exon_14_91642278_91642400 . 0/1:99:255,0,161 . . 14 91642395 rs34302825 G A NON_SYNONYMOUS_CODING C14orf159 MODERATE|MISSENSE|aGc/aAc|S242N|621|C14orf159|protein_coding|CODING|ENST00000256324|exon_14_91642278_91642400 . 0/1:99:255,0,161 . . 14 91642395 rs34302825 G A NON_SYNONYMOUS_CODING C14orf159 MODERATE|MISSENSE|aGc/aAc|S242N|621|C14orf159|protein_coding|CODING|ENST00000412671|exon_14_91642278_91642400 . 0/1:99:255,0,161 . . 14 91642395 rs34302825 G A NON_SYNONYMOUS_CODING C14orf159 MODERATE|MISSENSE|aGc/aAc|S242N|621|C14orf159|protein_coding|CODING|ENST00000518868|exon_14_91642278_91642400 . 0/1:99:255,0,161 . . 14 91773494 rs1970911 G A NON_SYNONYMOUS_CODING CCDC88C MODERATE|MISSENSE|gCg/gTg|A1028V|2028|CCDC88C|protein_coding|CODING|ENST00000389857|exon_14_91773382_91773570 0/1:99:222,0,215 . . . 14 91928452 rs180892588 T C NON_SYNONYMOUS_CODING SMEK1 MODERATE|MISSENSE|aAa/aGa|K463R|594|SMEK1|protein_coding|CODING|ENST00000428424|exon_14_91928393_91928583 . 0/1:99:255,0,234 . . 14 91928452 rs180892588 T C NON_SYNONYMOUS_CODING SMEK1 MODERATE|MISSENSE|aAa/aGa|K463R|594|SMEK1|protein_coding|CODING|ENST00000555462|exon_14_91928393_91928583 . 0/1:99:255,0,234 . . 14 91928452 rs180892588 T C NON_SYNONYMOUS_CODING SMEK1 MODERATE|MISSENSE|aAa/aGa|K689R|820|SMEK1|protein_coding|CODING|ENST00000337238|exon_14_91928393_91928583 . 0/1:99:255,0,234 . . 14 91928452 rs180892588 T C NON_SYNONYMOUS_CODING SMEK1 MODERATE|MISSENSE|aAa/aGa|K689R|820|SMEK1|protein_coding|CODING|ENST00000554684|exon_14_91928393_91928583 . 0/1:99:255,0,234 . . 14 91928452 rs180892588 T C NON_SYNONYMOUS_CODING SMEK1 MODERATE|MISSENSE|aAa/aGa|K702R|833|SMEK1|protein_coding|CODING|ENST00000554943|exon_14_91928393_91928583 . 0/1:99:255,0,234 . . 14 92472186 rs143524436 C T NON_SYNONYMOUS_CODING TRIP11 MODERATE|MISSENSE|Gag/Aag|E448K|1715|TRIP11|protein_coding|CODING|ENST00000542257|exon_14_92469763_92472792 . . 0/1:99:255,0,255 . 14 92472186 rs143524436 C T NON_SYNONYMOUS_CODING TRIP11 MODERATE|MISSENSE|Gag/Aag|E712K|1979|TRIP11|protein_coding|CODING|ENST00000267622|exon_14_92469763_92472792 . . 0/1:99:255,0,255 . 14 92480795 rs140416653 T A NON_SYNONYMOUS_CODING TRIP11 MODERATE|MISSENSE|gAt/gTt|D317V|1979|TRIP11|protein_coding|CODING|ENST00000267622|exon_14_92480559_92480921 . . 0/1:99:255,0,255 . 14 92480795 rs140416653 T A NON_SYNONYMOUS_CODING TRIP11 MODERATE|MISSENSE|gAt/gTt|D82V|1715|TRIP11|protein_coding|CODING|ENST00000542257|exon_14_92480559_92480921 . . 0/1:99:255,0,255 . 14 92958522 rs45587635 A C NON_SYNONYMOUS_CODING SLC24A4 MODERATE|MISSENSE|Aag/Cag|K488Q|558|SLC24A4|protein_coding|CODING|ENST00000393265|exon_14_92958519_92958584 . . . 0/1:99:209,0,255 14 92958522 rs45587635 A C NON_SYNONYMOUS_CODING SLC24A4 MODERATE|MISSENSE|Aag/Cag|K516Q|586|SLC24A4|protein_coding|CODING|ENST00000351924|exon_14_92958519_92958584 . . . 0/1:99:209,0,255 14 92958522 rs45587635 A C NON_SYNONYMOUS_CODING SLC24A4 MODERATE|MISSENSE|Aag/Cag|K533Q|603|SLC24A4|protein_coding|CODING|ENST00000531433|exon_14_92958519_92958584 . . . 0/1:99:209,0,255 14 92958522 rs45587635 A C NON_SYNONYMOUS_CODING SLC24A4 MODERATE|MISSENSE|Aag/Cag|K535Q|605|SLC24A4|protein_coding|CODING|ENST00000298877|exon_14_92958519_92958584 . . . 0/1:99:209,0,255 14 92958522 rs45587635 A C NON_SYNONYMOUS_CODING SLC24A4 MODERATE|MISSENSE|Aag/Cag|K552Q|622|SLC24A4|protein_coding|CODING|ENST00000532405|exon_14_92958519_92958584 . . . 0/1:99:209,0,255 14 93118229 rs117068593 C T NON_SYNONYMOUS_CODING RIN3 MODERATE|MISSENSE|Cgc/Tgc|R279C|909|RIN3|protein_coding|CODING|ENST00000428147|exon_14_93117927_93118286 . 1/1:45:146,24,0 . 0/1:13:127,0,10 14 93118229 rs117068593 C T NON_SYNONYMOUS_CODING RIN3 MODERATE|MISSENSE|Cgc/Tgc|R279C|985|RIN3|protein_coding|CODING|ENST00000216487|exon_14_93117927_93119420 . 1/1:45:146,24,0 . 0/1:13:127,0,10 14 93532678 . T G NON_SYNONYMOUS_CODING ITPK1 MODERATE|MISSENSE|cAc/cCc|H9P|229|ITPK1|protein_coding|CODING|ENST00000556185|exon_14_93532530_93532703 0/1:76:73,0,247 . . . 14 93673655 rs2286653 G A NON_SYNONYMOUS_CODING UBR7 MODERATE|MISSENSE|Gcc/Acc|A7T|151|UBR7|protein_coding|CODING|ENST00000556871|exon_14_93673588_93673786 . . 0/1:99:107,0,204 . 14 93673655 rs2286653 G A NON_SYNONYMOUS_CODING UBR7 MODERATE|MISSENSE|Gcc/Acc|A7T|177|UBR7|protein_coding|CODING|ENST00000554232|exon_14_93673586_93673786 . . 0/1:99:107,0,204 . 14 93673655 rs2286653 G A NON_SYNONYMOUS_CODING UBR7 MODERATE|MISSENSE|Gcc/Acc|A7T|425|UBR7|protein_coding|CODING|ENST00000013070|exon_14_93673401_93673786 . . 0/1:99:107,0,204 . 14 93708759 rs36099812 A C NON_SYNONYMOUS_CODING BTBD7 MODERATE|MISSENSE|Tcc/Gcc|S1087A|1132|BTBD7|protein_coding|CODING|ENST00000334746|exon_14_93703896_93709434 . . . 0/1:99:255,0,255 14 93708759 rs36099812 A C NON_SYNONYMOUS_CODING BTBD7 MODERATE|MISSENSE|Tcc/Gcc|S661A|706|BTBD7|protein_coding|CODING|ENST00000393170|exon_14_93708384_93709434 . . . 0/1:99:255,0,255 14 93708759 rs36099812 A C NON_SYNONYMOUS_CODING BTBD7 MODERATE|MISSENSE|Tcc/Gcc|S702A|747|BTBD7|protein_coding|CODING|ENST00000553975|exon_14_93708384_93709434 . . . 0/1:99:255,0,255 14 93708759 rs36099812 A C NON_SYNONYMOUS_CODING BTBD7 MODERATE|MISSENSE|Tcc/Gcc|S736A|781|BTBD7|protein_coding|CODING|ENST00000554565|exon_14_93708379_93709434 . . . 0/1:99:255,0,255 14 94430711 rs45580033 G A NON_SYNONYMOUS_CODING ASB2 MODERATE|MISSENSE|Cgc/Tgc|R27C|603|ASB2|protein_coding|CODING|ENST00000434324|exon_14_94430680_94430837 . . 0/1:99:255,0,255 . 14 94430711 rs45580033 G A NON_SYNONYMOUS_CODING ASB2 MODERATE|MISSENSE|Cgc/Tgc|R59C|121|ASB2|protein_coding|CODING|ENST00000557613|exon_14_94430680_94430958 . . 0/1:99:255,0,255 . 14 94430711 rs45580033 G A NON_SYNONYMOUS_CODING ASB2 MODERATE|MISSENSE|Cgc/Tgc|R59C|635|ASB2|protein_coding|CODING|ENST00000555019|exon_14_94430680_94430958 . . 0/1:99:255,0,255 . 14 94545559 rs145620061 G A NON_SYNONYMOUS_CODING DDX24 MODERATE|MISSENSE|gCg/gTg|A134V|763|DDX24|protein_coding|CODING|ENST00000542247|exon_14_94545371_94545967 . . 0/1:99:197,0,255 . 14 94545559 rs145620061 G A NON_SYNONYMOUS_CODING DDX24 MODERATE|MISSENSE|gCg/gTg|A134V|816|DDX24|protein_coding|CODING|ENST00000555054|exon_14_94545371_94545967 . . 0/1:99:197,0,255 . 14 94545559 rs145620061 G A NON_SYNONYMOUS_CODING DDX24 MODERATE|MISSENSE|gCg/gTg|A177V|859|DDX24|protein_coding|CODING|ENST00000330836|exon_14_94545371_94546093 . . 0/1:99:197,0,255 . 14 94744975 rs201217133 C T NON_SYNONYMOUS_CODING PPP4R4 MODERATE|MISSENSE|Cct/Tct|P873S|873|PPP4R4|protein_coding|CODING|ENST00000304338|exon_14_94744956_94746072 0/1:99:227,0,243 . . . 14 94936107 rs4905204 G A NON_SYNONYMOUS_CODING SERPINA9 MODERATE|MISSENSE|gCc/gTc|A24V|417|SERPINA9|protein_coding|CODING|ENST00000380365|exon_14_94935550_94936194 0/1:99:223,0,198 . . . 14 94936107 rs4905204 G A NON_SYNONYMOUS_CODING SERPINA9 MODERATE|MISSENSE|gCc/gTc|A42V|335|SERPINA9|protein_coding|CODING|ENST00000298845|exon_14_94935962_94936194 0/1:99:223,0,198 . . . 14 94936107 rs4905204 G A NON_SYNONYMOUS_CODING SERPINA9 MODERATE|MISSENSE|gCc/gTc|A42V|435|SERPINA9|protein_coding|CODING|ENST00000337425|exon_14_94935550_94936194 0/1:99:223,0,198 . . . 14 94936110 rs45438398 G A NON_SYNONYMOUS_CODING SERPINA9 MODERATE|MISSENSE|cCg/cTg|P23L|417|SERPINA9|protein_coding|CODING|ENST00000380365|exon_14_94935550_94936194 . . 0/1:99:230,0,222 . 14 94936110 rs45438398 G A NON_SYNONYMOUS_CODING SERPINA9 MODERATE|MISSENSE|cCg/cTg|P41L|335|SERPINA9|protein_coding|CODING|ENST00000298845|exon_14_94935962_94936194 . . 0/1:99:230,0,222 . 14 94936110 rs45438398 G A NON_SYNONYMOUS_CODING SERPINA9 MODERATE|MISSENSE|cCg/cTg|P41L|435|SERPINA9|protein_coding|CODING|ENST00000337425|exon_14_94935550_94936194 . . 0/1:99:230,0,222 . 14 95912388 rs61749972 G A NON_SYNONYMOUS_CODING C14orf49 MODERATE|MISSENSE|aCg/aTg|T254M|732|C14orf49|protein_coding|CODING|ENST00000554873|exon_14_95912246_95912428 0/1:99:252,0,157 . . . 14 95912388 rs61749972 G A NON_SYNONYMOUS_CODING C14orf49 MODERATE|MISSENSE|aCg/aTg|T497M|596|C14orf49|protein_coding|CODING|ENST00000553340|exon_14_95912246_95912428 0/1:99:252,0,157 . . . 14 95912388 rs61749972 G A NON_SYNONYMOUS_CODING C14orf49 MODERATE|MISSENSE|aCg/aTg|T497M|970|C14orf49|protein_coding|CODING|ENST00000557275|exon_14_95912246_95912428 0/1:99:252,0,157 . . . 14 95912388 rs61749972 G A NON_SYNONYMOUS_CODING C14orf49 MODERATE|MISSENSE|aCg/aTg|T497M|975|C14orf49|protein_coding|CODING|ENST00000334258|exon_14_95912246_95912428 0/1:99:252,0,157 . . . 14 96010424 rs11628901 G A NON_SYNONYMOUS_CODING GLRX5 MODERATE|MISSENSE|Gcc/Acc|A146T|157|GLRX5|protein_coding|CODING|ENST00000331334|exon_14_96010284_96011055 . . . 0/1:99:200,0,246 14 96703484 rs1046248 C T NON_SYNONYMOUS_CODING BDKRB2 MODERATE|MISSENSE|Cgt/Tgt|R14C|391|BDKRB2|protein_coding|CODING|ENST00000306005|exon_14_96703411_96703518 . . 0/1:99:255,0,255 . 14 96703484 rs1046248 C T NON_SYNONYMOUS_CODING BDKRB2 MODERATE|MISSENSE|Cgt/Tgt|R14C|391|BDKRB2|protein_coding|CODING|ENST00000554311|exon_14_96703406_96703518 . . 0/1:99:255,0,255 . 14 96703484 rs1046248 C T NON_SYNONYMOUS_CODING RP11-404P21.8.1 MODERATE|MISSENSE|Cgt/Tgt|R14C|75|RP11-404P21.8.1|protein_coding|CODING|ENST00000553811|exon_14_96703411_96703518 . . 0/1:99:255,0,255 . 14 96730740 rs45528332 G A NON_SYNONYMOUS_CODING BDKRB1 MODERATE|MISSENSE|Ggg/Agg|G241R|353|BDKRB1|protein_coding|CODING|ENST00000216629|exon_14_96730010_96731100 0/1:99:244,0,196 . . . 14 99182559 rs8009159 G A NON_SYNONYMOUS_CODING C14orf177 MODERATE|MISSENSE|Gag/Aag|E11K|125|C14orf177|protein_coding|CODING|ENST00000325812|exon_14_99182454_99182727 . . 0/1:99:255,0,255 . 14 99182559 rs8009159 G A NON_SYNONYMOUS_CODING C14orf177 MODERATE|MISSENSE|Gag/Aag|E11K|74|C14orf177|protein_coding|CODING|ENST00000541516|exon_14_99182454_99182727 . . 0/1:99:255,0,255 . 14 100001003 rs10151574 T C NON_SYNONYMOUS_CODING CCNK MODERATE|MISSENSE|Tcc/Ccc|S374P|378|CCNK|protein_coding|CODING|ENST00000555049|exon_14_100001001_100001381 0/1:99:203,0,139 . . . 14 100046373 rs78395743 A T NON_SYNONYMOUS_CODING CCDC85C MODERATE|MISSENSE|Tgt/Agt|C31S|190|CCDC85C|protein_coding|CODING|ENST00000554996|exon_14_100046358_100046463 0/1:99:132,0,159 . . . 14 101347591 . G A NON_SYNONYMOUS_CODING RTL1 MODERATE|MISSENSE|Cac/Tac|H1179Y|1358|RTL1|protein_coding|CODING|ENST00000534062|exon_14_101346992_101351184 . . 0/1:99:109,0,223 . 14 101349454 rs41286560 G T NON_SYNONYMOUS_CODING RTL1 MODERATE|MISSENSE|Cca/Aca|P558T|1358|RTL1|protein_coding|CODING|ENST00000534062|exon_14_101346992_101351184 . 0/1:99:155,0,145 . . 14 102197694 rs72715630 G A NON_SYNONYMOUS_CODING RP11-796G6.2.1 MODERATE|MISSENSE|Ggg/Agg|G12R|114|RP11-796G6.2.1|protein_coding|CODING|ENST00000556973|exon_14_102197694_102197805 0/1:99:229,0,240 . . . 14 102815042 rs7011 C T NON_SYNONYMOUS_CODING CINP MODERATE|MISSENSE|cGc/cAc|R164H|212|CINP|protein_coding|CODING|ENST00000216756|exon_14_102814619_102815096 . 0/1:99:242,0,185 . . 14 102815042 rs7011 C T NON_SYNONYMOUS_CODING CINP MODERATE|MISSENSE|cGc/cAc|R179H|227|CINP|protein_coding|CODING|ENST00000536961|exon_14_102814822_102815096 . 0/1:99:242,0,185 . . 14 102901204 rs45467297 C G NON_SYNONYMOUS_CODING TECPR2 MODERATE|MISSENSE|Cta/Gta|L684V|1267|TECPR2|protein_coding|CODING|ENST00000558678|exon_14_102900572_102901548 . . 1/1:99:255,99,0 . 14 102901204 rs45467297 C G NON_SYNONYMOUS_CODING TECPR2 MODERATE|MISSENSE|Cta/Gta|L684V|1411|TECPR2|protein_coding|CODING|ENST00000359520|exon_14_102900572_102901548 . . 1/1:99:255,99,0 . 14 103566785 rs2297067 C T NON_SYNONYMOUS_CODING EXOC3L4 MODERATE|MISSENSE|Cgg/Tgg|R41W|152|EXOC3L4|protein_coding|CODING|ENST00000559116|exon_14_103566665_103566950 . . . 0/1:99:217,0,159 14 103566785 rs2297067 C T NON_SYNONYMOUS_CODING EXOC3L4 MODERATE|MISSENSE|Cgg/Tgg|R77W|722|EXOC3L4|protein_coding|CODING|ENST00000380069|exon_14_103566481_103566950 . . . 0/1:99:217,0,159 14 103566835 rs2297066 C G NON_SYNONYMOUS_CODING EXOC3L4 MODERATE|MISSENSE|gaC/gaG|D57E|152|EXOC3L4|protein_coding|CODING|ENST00000559116|exon_14_103566665_103566950 . . . 0/1:99:220,0,119 14 103566835 rs2297066 C G NON_SYNONYMOUS_CODING EXOC3L4 MODERATE|MISSENSE|gaC/gaG|D93E|722|EXOC3L4|protein_coding|CODING|ENST00000380069|exon_14_103566481_103566950 . . . 0/1:99:220,0,119 14 103568614 rs10131298 T A NON_SYNONYMOUS_CODING EXOC3L4 MODERATE|MISSENSE|cTt/cAt|L185H|722|EXOC3L4|protein_coding|CODING|ENST00000380069|exon_14_103568455_103569109 . . . 0/1:99:116,0,209 14 103941521 rs202148764 C T NON_SYNONYMOUS_CODING MARK3 MODERATE|MISSENSE|Cgc/Tgc|R135C|445|MARK3|protein_coding|CODING|ENST00000411530|exon_14_103941330_103941547 . 0/1:99:215,0,237 . . 14 103941521 rs202148764 C T NON_SYNONYMOUS_CODING MARK3 MODERATE|MISSENSE|Cgc/Tgc|R21C|331|MARK3|protein_coding|CODING|ENST00000556744|exon_14_103941461_103941547 . 0/1:99:215,0,237 . . 14 103941521 rs202148764 C T NON_SYNONYMOUS_CODING MARK3 MODERATE|MISSENSE|Cgc/Tgc|R407C|659|MARK3|protein_coding|CODING|ENST00000440884|exon_14_103941330_103941547 . 0/1:99:215,0,237 . . 14 103941521 rs202148764 C T NON_SYNONYMOUS_CODING MARK3 MODERATE|MISSENSE|Cgc/Tgc|R470C|713|MARK3|protein_coding|CODING|ENST00000216288|exon_14_103941330_103941547 . 0/1:99:215,0,237 . . 14 103941521 rs202148764 C T NON_SYNONYMOUS_CODING MARK3 MODERATE|MISSENSE|Cgc/Tgc|R486C|729|MARK3|protein_coding|CODING|ENST00000303622|exon_14_103941330_103941547 . 0/1:99:215,0,237 . . 14 103941521 rs202148764 C T NON_SYNONYMOUS_CODING MARK3 MODERATE|MISSENSE|Cgc/Tgc|R486C|744|MARK3|protein_coding|CODING|ENST00000553942|exon_14_103941330_103941547 . 0/1:99:215,0,237 . . 14 103941521 rs202148764 C T NON_SYNONYMOUS_CODING MARK3 MODERATE|MISSENSE|Cgc/Tgc|R486C|753|MARK3|protein_coding|CODING|ENST00000429436|exon_14_103941330_103941547 . 0/1:99:215,0,237 . . 14 103941521 rs202148764 C T NON_SYNONYMOUS_CODING MARK3 MODERATE|MISSENSE|Cgc/Tgc|R509C|752|MARK3|protein_coding|CODING|ENST00000416682|exon_14_103941330_103941547 . 0/1:99:215,0,237 . . 14 103941521 rs202148764 C T NON_SYNONYMOUS_CODING MARK3 MODERATE|MISSENSE|Cgc/Tgc|R509C|776|MARK3|protein_coding|CODING|ENST00000335102|exon_14_103941330_103941547 . 0/1:99:215,0,237 . . 14 103941521 rs202148764 C T NON_SYNONYMOUS_CODING MARK3 MODERATE|MISSENSE|Cgc/Tgc|R65C|222|MARK3|protein_coding|CODING|ENST00000561314|exon_14_103941329_103941547 . 0/1:99:215,0,237 . . 14 104194228 rs71417876 A G NON_SYNONYMOUS_CODING ZFYVE21 MODERATE|MISSENSE|aAg/aGg|K112R|234|ZFYVE21|protein_coding|CODING|ENST00000311141|exon_14_104194083_104194251 . 0/1:99:215,0,229 . . 14 104194228 rs71417876 A G NON_SYNONYMOUS_CODING ZFYVE21 MODERATE|MISSENSE|aAg/aGg|K112R|252|ZFYVE21|protein_coding|CODING|ENST00000216602|exon_14_104194083_104194251 . 0/1:99:215,0,229 . . 14 104407903 rs17101950 A T NON_SYNONYMOUS_CODING TDRD9-AS1 MODERATE|MISSENSE|Tta/Ata|L44I|198|TDRD9-AS1|protein_coding|CODING|ENST00000455348|exon_14_104407734_104408032 . 0/1:99:255,0,234 . . 14 104407903 rs17101950 A T NON_SYNONYMOUS_CODING TDRD9-AS1 MODERATE|MISSENSE|Tta/Ata|L44I|198|TDRD9-AS1|protein_coding|CODING|ENST00000557640|exon_14_104407734_104408039 . 0/1:99:255,0,234 . . 14 104571054 rs8012505 C G NON_SYNONYMOUS_CODING ASPG MODERATE|MISSENSE|agC/agG|S344R|555|ASPG|protein_coding|CODING|ENST00000546892|exon_14_104570959_104571072 . . . 0/1:99:188,0,97 14 104571054 rs8012505 C G NON_SYNONYMOUS_CODING ASPG MODERATE|MISSENSE|agC/agG|S344R|573|ASPG|protein_coding|CODING|ENST00000551177|exon_14_104570959_104571072 . . . 0/1:99:188,0,97 14 104571054 rs8012505 C G NON_SYNONYMOUS_CODING ASPG MODERATE|MISSENSE|agC/agG|S344R|579|ASPG|protein_coding|CODING|ENST00000455920|exon_14_104570959_104571072 . . . 0/1:99:188,0,97 14 104571054 rs8012505 C G NON_SYNONYMOUS_CODING ASPG MODERATE|MISSENSE|agC/agG|S372R|594|ASPG|protein_coding|CODING|ENST00000299234|exon_14_104570959_104571072 . . . 0/1:99:188,0,97 14 104641935 rs74324704 A G NON_SYNONYMOUS_CODING KIF26A MODERATE|MISSENSE|gAa/gGa|E798G|1743|KIF26A|protein_coding|CODING|ENST00000315264|exon_14_104641319_104644235 . 0/1:99:255,0,250 . . 14 104641935 rs74324704 A G NON_SYNONYMOUS_CODING KIF26A MODERATE|MISSENSE|gAa/gGa|E937G|1882|KIF26A|protein_coding|CODING|ENST00000423312|exon_14_104641319_104644235 . 0/1:99:255,0,250 . . 14 104642499 rs114955777 G T NON_SYNONYMOUS_CODING KIF26A MODERATE|MISSENSE|cGt/cTt|R1125L|1882|KIF26A|protein_coding|CODING|ENST00000423312|exon_14_104641319_104644235 . 0/1:99:191,0,220 . . 14 104642499 rs114955777 G T NON_SYNONYMOUS_CODING KIF26A MODERATE|MISSENSE|cGt/cTt|R986L|1743|KIF26A|protein_coding|CODING|ENST00000315264|exon_14_104641319_104644235 . 0/1:99:191,0,220 . . 14 105173812 . A G NON_SYNONYMOUS_CODING INF2 MODERATE|MISSENSE|gAg/gGg|E403G|1240|INF2|protein_coding|CODING|ENST00000330634|exon_14_105173590_105174339 . 0/1:61:60,0,63 . . 14 105173812 . A G NON_SYNONYMOUS_CODING INF2 MODERATE|MISSENSE|gAg/gGg|E403G|1249|INF2|protein_coding|CODING|ENST00000392634|exon_14_105173590_105174339 . 0/1:61:60,0,63 . . 14 105174186 rs181694819 C T NON_SYNONYMOUS_CODING INF2 MODERATE|MISSENSE|Ccc/Tcc|P528S|1240|INF2|protein_coding|CODING|ENST00000330634|exon_14_105173590_105174339 . . 0/1:88:86,0,95 . 14 105174186 rs181694819 C T NON_SYNONYMOUS_CODING INF2 MODERATE|MISSENSE|Ccc/Tcc|P528S|1249|INF2|protein_coding|CODING|ENST00000392634|exon_14_105173590_105174339 . . 0/1:88:86,0,95 . 14 105174274 rs199748471 T G NON_SYNONYMOUS_CODING INF2 MODERATE|MISSENSE|gTg/gGg|V557G|1240|INF2|protein_coding|CODING|ENST00000330634|exon_14_105173590_105174339 . 0/1:26:67,0,23 . . 14 105174274 rs199748471 T G NON_SYNONYMOUS_CODING INF2 MODERATE|MISSENSE|gTg/gGg|V557G|1249|INF2|protein_coding|CODING|ENST00000392634|exon_14_105173590_105174339 . 0/1:26:67,0,23 . . 14 105182306 rs144319891 C A NON_SYNONYMOUS_CODING INF2 MODERATE|MISSENSE|Cgc/Agc|R57S|81|INF2|protein_coding|CODING|ENST00000481338|exon_14_105182062_105182354 . . 0/1:99:164,0,249 . 14 105267934 rs34284721 G A NON_SYNONYMOUS_CODING ZBTB42 MODERATE|MISSENSE|Gca/Aca|A134T|422|ZBTB42|protein_coding|CODING|ENST00000342537|exon_14_105267250_105271049 . . 0/1:99:236,0,213 . 14 105267934 rs34284721 G A NON_SYNONYMOUS_CODING ZBTB42 MODERATE|MISSENSE|Gca/Aca|A134T|422|ZBTB42|protein_coding|CODING|ENST00000555360|exon_14_105267518_105268823 . . 0/1:99:236,0,213 . 14 105408714 rs200559641 C G NON_SYNONYMOUS_CODING AHNAK2 MODERATE|MISSENSE|caG/caC|Q4358H|5795|AHNAK2|protein_coding|CODING|ENST00000333244|exon_14_105403654_105421136 . . . 0/1:99:235,0,124 14 105409300 . G C NON_SYNONYMOUS_CODING AHNAK2 MODERATE|MISSENSE|gCg/gGg|A4163G|5795|AHNAK2|protein_coding|CODING|ENST00000333244|exon_14_105403654_105421136 . . 0/1:99:201,0,206 . 14 105411971 rs28737397 T C NON_SYNONYMOUS_CODING AHNAK2 MODERATE|MISSENSE|Agc/Ggc|S3273G|5795|AHNAK2|protein_coding|CODING|ENST00000333244|exon_14_105403654_105421136 . . . 1/1:16:62,9,0 14 105412138 rs200384326 A G NON_SYNONYMOUS_CODING AHNAK2 MODERATE|MISSENSE|cTc/cCc|L3217P|5795|AHNAK2|protein_coding|CODING|ENST00000333244|exon_14_105403654_105421136 0/1:68:65,0,145 . . . 14 105414143 rs199966867 C G NON_SYNONYMOUS_CODING AHNAK2 MODERATE|MISSENSE|Gtg/Ctg|V2549L|5795|AHNAK2|protein_coding|CODING|ENST00000333244|exon_14_105403654_105421136 0/1:99:216,0,138 . . . 14 105416918 rs71421895 T C NON_SYNONYMOUS_CODING AHNAK2 MODERATE|MISSENSE|Atg/Gtg|M1624V|5795|AHNAK2|protein_coding|CODING|ENST00000333244|exon_14_105403654_105421136 . . 0/1:99:228,0,174 . 14 105417313 rs80275639 T C NON_SYNONYMOUS_CODING AHNAK2 MODERATE|MISSENSE|aAg/aGg|K1492R|5795|AHNAK2|protein_coding|CODING|ENST00000333244|exon_14_105403654_105421136 . 1/1:16:65,9,0 . . 14 105418166 rs78116894 T C NON_SYNONYMOUS_CODING AHNAK2 MODERATE|MISSENSE|Acc/Gcc|T1208A|5795|AHNAK2|protein_coding|CODING|ENST00000333244|exon_14_105403654_105421136 . 1/1:21:85,12,0 . 1/1:27:97,15,0 14 105418264 rs55650155 G A NON_SYNONYMOUS_CODING AHNAK2 MODERATE|MISSENSE|gCg/gTg|A1175V|5795|AHNAK2|protein_coding|CODING|ENST00000333244|exon_14_105403654_105421136 . 1/1:63:148,33,0 1/1:99:255,84,0 1/1:99:255,69,0 14 105716854 rs146426875 G A NON_SYNONYMOUS_CODING BTBD6 MODERATE|MISSENSE|Gtc/Atc|V360I|410|BTBD6|protein_coding|CODING|ENST00000327471|exon_14_105715977_105717421 0/1:99:196,0,224 . . . 14 105716854 rs146426875 G A NON_SYNONYMOUS_CODING BTBD6 MODERATE|MISSENSE|Gtc/Atc|V435I|485|BTBD6|protein_coding|CODING|ENST00000392554|exon_14_105715977_105717430 0/1:99:196,0,224 . . . 14 105716854 rs146426875 G A NON_SYNONYMOUS_CODING BTBD6 MODERATE|MISSENSE|Gtc/Atc|V435I|485|BTBD6|protein_coding|CODING|ENST00000536364|exon_14_105715977_105717421 0/1:99:196,0,224 . . . 14 105752675 rs144673138 C T NON_SYNONYMOUS_CODING BRF1 MODERATE|MISSENSE|Gtg/Atg|V75M|208|BRF1|protein_coding|CODING|ENST00000548421|exon_14_105752633_105752713 . 0/1:99:255,0,255 . . 14 105752675 rs144673138 C T NON_SYNONYMOUS_CODING BRF1 MODERATE|MISSENSE|Gtg/Atg|V75M|240|BRF1|protein_coding|CODING|ENST00000345053|exon_14_105752633_105752713 . 0/1:99:255,0,255 . . 14 105752675 rs144673138 C T NON_SYNONYMOUS_CODING BRF1 MODERATE|MISSENSE|Gtg/Atg|V75M|677|BRF1|protein_coding|CODING|ENST00000546474|exon_14_105752633_105752713 . 0/1:99:255,0,255 . . 14 105945539 . C T NON_SYNONYMOUS_CODING CRIP2 MODERATE|MISSENSE|Ccc/Tcc|P162S|208|CRIP2|protein_coding|CODING|ENST00000329146|exon_14_105945462_105945556 0/1:35:61,0,32 . . . 14 105945539 . C T NON_SYNONYMOUS_CODING CRIP2 MODERATE|MISSENSE|Ccc/Tcc|P236S|282|CRIP2|protein_coding|CODING|ENST00000483017|exon_14_105945462_105945556 0/1:35:61,0,32 . . . 14 105954705 rs55633823 C T NON_SYNONYMOUS_CODING CRIP1 MODERATE|MISSENSE|gCa/gTa|A58V|77|CRIP1|protein_coding|CODING|ENST00000330233|exon_14_105954668_105954725 0/1:66:66,0,66 . . . 14 105954705 rs55633823 C T NON_SYNONYMOUS_CODING CRIP1 MODERATE|MISSENSE|gCa/gTa|A58V|77|CRIP1|protein_coding|CODING|ENST00000392531|exon_14_105954668_105954725 0/1:66:66,0,66 . . . 14 105954705 rs55633823 C T NON_SYNONYMOUS_CODING CRIP1 MODERATE|MISSENSE|gCa/gTa|A58V|77|CRIP1|protein_coding|CODING|ENST00000409393|exon_14_105954668_105954725 0/1:66:66,0,66 . . . 14 105965102 rs34137879 G A NON_SYNONYMOUS_CODING C14orf80 MODERATE|MISSENSE|cGa/cAa|R189Q|248|C14orf80|protein_coding|CODING|ENST00000450383|exon_14_105964954_105965283 . 0/1:99:190,0,188 . . 14 105965102 rs34137879 G A NON_SYNONYMOUS_CODING C14orf80 MODERATE|MISSENSE|cGa/cAa|R293Q|352|C14orf80|protein_coding|CODING|ENST00000334656|exon_14_105964954_105965551 . 0/1:99:190,0,188 . . 14 105965102 rs34137879 G A NON_SYNONYMOUS_CODING C14orf80 MODERATE|MISSENSE|cGa/cAa|R293Q|352|C14orf80|protein_coding|CODING|ENST00000392527|exon_14_105964954_105965523 . 0/1:99:190,0,188 . . 14 105965102 rs34137879 G A NON_SYNONYMOUS_CODING C14orf80 MODERATE|MISSENSE|cGa/cAa|R295Q|354|C14orf80|protein_coding|CODING|ENST00000329886|exon_14_105964954_105965912 . 0/1:99:190,0,188 . . 14 105965102 rs34137879 G A NON_SYNONYMOUS_CODING C14orf80 MODERATE|MISSENSE|cGa/cAa|R296Q|355|C14orf80|protein_coding|CODING|ENST00000548920|exon_14_105964954_105965565 . 0/1:99:190,0,188 . . 14 105965102 rs34137879 G A NON_SYNONYMOUS_CODING C14orf80 MODERATE|MISSENSE|cGa/cAa|R334Q|393|C14orf80|protein_coding|CODING|ENST00000354560|exon_14_105964954_105965546 . 0/1:99:190,0,188 . . 14 105965102 rs34137879 G A NON_SYNONYMOUS_CODING C14orf80 MODERATE|MISSENSE|cGa/cAa|R367Q|426|C14orf80|protein_coding|CODING|ENST00000392522|exon_14_105964954_105965505 . 0/1:99:190,0,188 . . 14 105965102 rs34137879 G A NON_SYNONYMOUS_CODING C14orf80 MODERATE|MISSENSE|cGa/cAa|R436Q|495|C14orf80|protein_coding|CODING|ENST00000392523|exon_14_105964954_105965519 . 0/1:99:190,0,188 . . 15 20740129 rs199932545 G A NON_SYNONYMOUS_CODING GOLGA6L6 MODERATE|MISSENSE|Cgg/Tgg|R541W|750|GOLGA6L6|protein_coding|CODING|ENST00000427390|exon_15_20739497_20740969 . . 1/1:9:132,5,0 . 15 20743586 . C T NON_SYNONYMOUS_CODING GOLGA6L6 MODERATE|MISSENSE|Gga/Aga|G175R|750|GOLGA6L6|protein_coding|CODING|ENST00000427390|exon_15_20743530_20743636 . . . 0/1:21:54,0,18 15 23086364 . GGCCGCCGCCGCCGCCGCCGCCGCCGC GGCCGCCGCCGCCGCCGCCGCCGC CODON_DELETION NIPA1 MODERATE||gcg/-|A8-|329|NIPA1|protein_coding|CODING|ENST00000337435|exon_15_23086234_23086436 . 1/1:10:89,6,0 . . 15 23406513 . G A NON_SYNONYMOUS_CODING RP11-467N20.5.1 MODERATE|MISSENSE|Cgg/Tgg|R775W|854|RP11-467N20.5.1|protein_coding|CODING|ENST00000558241|exon_15_23406271_23408073 1/1:9:152,5,0 . . . 15 23406722 rs201436574 C T NON_SYNONYMOUS_CODING RP11-467N20.5.1 MODERATE|MISSENSE|gGg/gAg|G705E|854|RP11-467N20.5.1|protein_coding|CODING|ENST00000558241|exon_15_23406271_23408073 0/1:10:193,0,7 . . . 15 23407301 rs113459722 T A NON_SYNONYMOUS_CODING RP11-467N20.5.1 MODERATE|MISSENSE|aAa/aTa|K512I|854|RP11-467N20.5.1|protein_coding|CODING|ENST00000558241|exon_15_23406271_23408073 1/1:39:155,21,0 . . . 15 23609541 rs185499526 A G NON_SYNONYMOUS_CODING RP11-529J17.2.1 MODERATE|MISSENSE|Aag/Gag|K467E|625|RP11-529J17.2.1|protein_coding|CODING|ENST00000562295|exon_15_23609490_23609590 . 0/1:99:101,0,145 . . 15 23609678 rs3826016 T C NON_SYNONYMOUS_CODING RP11-529J17.2.1 MODERATE|MISSENSE|aTc/aCc|I485T|625|RP11-529J17.2.1|protein_coding|CODING|ENST00000562295|exon_15_23609673_23609770 . . 0/1:62:84,0,59 . 15 23685059 rs112383936 G C NON_SYNONYMOUS_CODING GOLGA6L2 MODERATE|MISSENSE|Cca/Gca|P855A|909|GOLGA6L2|protein_coding|CODING|ENST00000567107|exon_15_23684645_23686829 . 0/1:90:87,0,250 . 0/1:97:94,0,230 15 23685080 . G C NON_SYNONYMOUS_CODING GOLGA6L2 MODERATE|MISSENSE|Cca/Gca|P848A|909|GOLGA6L2|protein_coding|CODING|ENST00000567107|exon_15_23684645_23686829 0/1:81:78,0,192 0/1:60:57,0,214 . 0/1:99:103,0,196 15 23685232 . A G NON_SYNONYMOUS_CODING GOLGA6L2 MODERATE|MISSENSE|gTg/gCg|V797A|909|GOLGA6L2|protein_coding|CODING|ENST00000567107|exon_15_23684645_23686829 . 1/1:16:64,9,0 . . 15 23685322 . T C NON_SYNONYMOUS_CODING GOLGA6L2 MODERATE|MISSENSE|gAa/gGa|E767G|909|GOLGA6L2|protein_coding|CODING|ENST00000567107|exon_15_23684645_23686829 . . . 1/1:10:53,6,0 15 23685647 . C T NON_SYNONYMOUS_CODING GOLGA6L2 MODERATE|MISSENSE|Gaa/Aaa|E659K|909|GOLGA6L2|protein_coding|CODING|ENST00000567107|exon_15_23684645_23686829 . 0/1:70:67,0,255 . . 15 23685825 . ATCTTCTTCT ATCTTCT CODON_DELETION GOLGA6L2 MODERATE||gcagaa/gca|AE596A|909|GOLGA6L2|protein_coding|CODING|ENST00000567107|exon_15_23684645_23686829 0/1:83:80,0,255 . . . 15 23686010 . TCTCCT TCTCCTCCT CODON_INSERTION GOLGA6L2 MODERATE||-/AGG|-263R|314|GOLGA6L2|protein_coding|CODING|ENST00000345070|exon_15_23685992_23686829 . 0/1:99:97,0,230 . . 15 23686010 . TCTCCT TCTCCTCCT CODON_INSERTION GOLGA6L2 MODERATE||-/AGG|-536R|650|GOLGA6L2|protein_coding|CODING|ENST00000312015|exon_15_23685990_23686829 . 0/1:99:97,0,230 . . 15 23686010 . TCTCCT TCTCCTCCT CODON_INSERTION GOLGA6L2 MODERATE||-/AGG|-536R|909|GOLGA6L2|protein_coding|CODING|ENST00000567107|exon_15_23684645_23686829 . 0/1:99:97,0,230 . . 15 23686019 . G C NON_SYNONYMOUS_CODING GOLGA6L2 MODERATE|MISSENSE|Cgg/Ggg|R262G|314|GOLGA6L2|protein_coding|CODING|ENST00000345070|exon_15_23685992_23686829 . 0/1:93:90,0,255 . . 15 23686019 . G C NON_SYNONYMOUS_CODING GOLGA6L2 MODERATE|MISSENSE|Cgg/Ggg|R535G|650|GOLGA6L2|protein_coding|CODING|ENST00000312015|exon_15_23685990_23686829 . 0/1:93:90,0,255 . . 15 23686019 . G C NON_SYNONYMOUS_CODING GOLGA6L2 MODERATE|MISSENSE|Cgg/Ggg|R535G|909|GOLGA6L2|protein_coding|CODING|ENST00000567107|exon_15_23684645_23686829 . 0/1:93:90,0,255 . . 15 25213098 . C T NON_SYNONYMOUS_CODING SNURF MODERATE|MISSENSE|Cgt/Tgt|R44C|71|SNURF|protein_coding|CODING|ENST00000338094|exon_15_25213079_25213229 . . . 0/1:99:255,0,210 15 25213098 . C T NON_SYNONYMOUS_CODING SNURF MODERATE|MISSENSE|Cgt/Tgt|R44C|71|SNURF|protein_coding|CODING|ENST00000338327|exon_15_25213079_25213229 . . . 0/1:99:255,0,210 15 25933094 rs3743438 C T NON_SYNONYMOUS_CODING ATP10A MODERATE|MISSENSE|cGc/cAc|R45H|138|ATP10A|protein_coding|CODING|ENST00000555756|exon_15_25932850_25933143 0/1:99:255,0,237 0/1:99:222,0,251 . . 15 25953442 rs2066704 C T NON_SYNONYMOUS_CODING ATP10A MODERATE|MISSENSE|Gcc/Acc|A784T|1499|ATP10A|protein_coding|CODING|ENST00000356865|exon_15_25953344_25953447 . 0/1:99:255,0,255 . . 15 28473454 rs138177581 T C NON_SYNONYMOUS_CODING HERC2 MODERATE|MISSENSE|Atg/Gtg|M1792V|4834|HERC2|protein_coding|CODING|ENST00000261609|exon_15_28473364_28473555 . . . 0/1:99:225,0,255 15 28517492 rs77399744 C A NON_SYNONYMOUS_CODING HERC2 MODERATE|MISSENSE|Gac/Tac|D318Y|4834|HERC2|protein_coding|CODING|ENST00000261609|exon_15_28517361_28517532 . 0/1:99:230,0,255 . . 15 28948484 . G A NON_SYNONYMOUS_CODING RP11-578F21.5.1 MODERATE|MISSENSE|cCg/cTg|P450L|632|RP11-578F21.5.1|protein_coding|CODING|ENST00000563027|exon_15_28948465_28948556 . 1/1:5:59,2,0 1/1:21:57,12,0 1/1:9:67,5,0 15 29421054 rs2306933 C T NON_SYNONYMOUS_CODING FAM189A1 MODERATE|MISSENSE|gGt/gAt|G314D|539|FAM189A1|protein_coding|CODING|ENST00000261275|exon_15_29420992_29421067 0/1:99:255,0,147 . . . 15 30000796 . T C NON_SYNONYMOUS_CODING TJP1 MODERATE|MISSENSE|aAt/aGt|N1526S|1668|TJP1|protein_coding|CODING|ENST00000545208|exon_15_30000763_30001240 0/1:99:255,0,255 . . . 15 30000796 . T C NON_SYNONYMOUS_CODING TJP1 MODERATE|MISSENSE|aAt/aGt|N1526S|1675|TJP1|protein_coding|CODING|ENST00000400007|exon_15_30000763_30001240 0/1:99:255,0,255 . . . 15 30000796 . T C NON_SYNONYMOUS_CODING TJP1 MODERATE|MISSENSE|aAt/aGt|N1530S|1692|TJP1|protein_coding|CODING|ENST00000400011|exon_15_30000763_30001240 0/1:99:255,0,255 . . . 15 30000796 . T C NON_SYNONYMOUS_CODING TJP1 MODERATE|MISSENSE|aAt/aGt|N1606S|1748|TJP1|protein_coding|CODING|ENST00000346128|exon_15_30000763_30001240 0/1:99:255,0,255 . . . 15 30000796 . T C NON_SYNONYMOUS_CODING TJP1 MODERATE|MISSENSE|aAt/aGt|N1606S|1768|TJP1|protein_coding|CODING|ENST00000356107|exon_15_30000763_30001240 0/1:99:255,0,255 . . . 15 30700159 rs62016504 A G NON_SYNONYMOUS_CODING RP11-382B18.2.1 MODERATE|MISSENSE|Tgg/Cgg|W116R|294|RP11-382B18.2.1|protein_coding|CODING|ENST00000544495|exon_15_30700111_30700195 0/1:60:57,0,255 . . . 15 30700159 rs62016504 A G NON_SYNONYMOUS_CODING RP11-382B18.2.1 MODERATE|MISSENSE|Tgg/Cgg|W275R|631|RP11-382B18.2.1|protein_coding|CODING|ENST00000327271|exon_15_30700111_30700195 0/1:60:57,0,255 . . . 15 30900873 rs201314562 T C NON_SYNONYMOUS_CODING GOLGA8H MODERATE|MISSENSE|Tgc/Cgc|C169R|632|GOLGA8H|protein_coding|CODING|ENST00000566740|exon_15_30900850_30900959 . 1/1:63:79,33,0 0/1:72:69,0,162 1/1:57:102,30,0 15 31266552 . G A NON_SYNONYMOUS_CODING MTMR10 MODERATE|MISSENSE|Cgc/Tgc|R147C|218|MTMR10|protein_coding|CODING|ENST00000425768|exon_15_31266517_31266659 0/1:99:255,0,255 . . . 15 31266552 . G A NON_SYNONYMOUS_CODING MTMR10 MODERATE|MISSENSE|Cgc/Tgc|R147C|777|MTMR10|protein_coding|CODING|ENST00000435680|exon_15_31266517_31266659 0/1:99:255,0,255 . . . 15 31266552 . G A NON_SYNONYMOUS_CODING MTMR10 MODERATE|MISSENSE|Cgc/Tgc|R65C|451|MTMR10|protein_coding|CODING|ENST00000563714|exon_15_31266517_31266659 0/1:99:255,0,255 . . . 15 31266552 . G A NON_SYNONYMOUS_CODING MTMR10 MODERATE|MISSENSE|Cgc/Tgc|R65C|456|MTMR10|protein_coding|CODING|ENST00000340566|exon_15_31266517_31266659 0/1:99:255,0,255 . . . 15 31294343 rs12898290 A T NON_SYNONYMOUS_CODING TRPM1 MODERATE|MISSENSE|caT/caA|H1422Q|1527|TRPM1|protein_coding|CODING|ENST00000558768|exon_15_31294025_31295273 . . . 0/1:99:255,0,255 15 31294343 rs12898290 A T NON_SYNONYMOUS_CODING TRPM1 MODERATE|MISSENSE|caT/caA|H1498Q|1603|TRPM1|protein_coding|CODING|ENST00000397793|exon_15_31293553_31295273 . . . 0/1:99:255,0,255 15 31294343 rs12898290 A T NON_SYNONYMOUS_CODING TRPM1 MODERATE|MISSENSE|caT/caA|H1498Q|1603|TRPM1|protein_coding|CODING|ENST00000397795|exon_15_31293264_31295273 . . . 0/1:99:255,0,255 15 31294343 rs12898290 A T NON_SYNONYMOUS_CODING TRPM1 MODERATE|MISSENSE|caT/caA|H1520Q|1625|TRPM1|protein_coding|CODING|ENST00000256552|exon_15_31293537_31295273 . . . 0/1:99:255,0,255 15 31294343 rs12898290 A T NON_SYNONYMOUS_CODING TRPM1 MODERATE|MISSENSE|caT/caA|H1537Q|1642|TRPM1|protein_coding|CODING|ENST00000542188|exon_15_31293553_31295273 . . . 0/1:99:255,0,255 15 32743159 . G C NON_SYNONYMOUS_CODING RP11-632K20.1.1 MODERATE|MISSENSE|agC/agG|S182R|632|RP11-632K20.1.1|protein_coding|CODING|ENST00000509311|exon_15_32743114_32743223 . 0/1:57:54,0,105 . . 15 33261288 rs77531455 G A NON_SYNONYMOUS_CODING FMN1 MODERATE|MISSENSE|Ccc/Tcc|P649S|1196|FMN1|protein_coding|CODING|ENST00000334528|exon_15_33260915_33261678 0/1:97:94,0,112 . . . 15 33261288 rs77531455 G A NON_SYNONYMOUS_CODING FMN1 MODERATE|MISSENSE|Ccc/Tcc|P774S|1321|FMN1|protein_coding|CODING|ENST00000561249|exon_15_33260915_33261678 0/1:97:94,0,112 . . . 15 33261288 rs77531455 G A NON_SYNONYMOUS_CODING FMN1 MODERATE|MISSENSE|Ccc/Tcc|P872S|1419|FMN1|protein_coding|CODING|ENST00000559047|exon_15_33260915_33261678 0/1:97:94,0,112 . . . 15 33359950 rs141655944 C G NON_SYNONYMOUS_CODING FMN1 MODERATE|MISSENSE|Gaa/Caa|E46Q|1196|FMN1|protein_coding|CODING|ENST00000334528|exon_15_33358712_33360085 . 0/1:99:238,0,255 . . 15 33359950 rs141655944 C G NON_SYNONYMOUS_CODING FMN1 MODERATE|MISSENSE|Gaa/Caa|E46Q|503|FMN1|protein_coding|CODING|ENST00000558197|exon_15_33358712_33360363 . 0/1:99:238,0,255 . . 15 33381040 rs34718785 C G NON_SYNONYMOUS_CODING FMN1 MODERATE|MISSENSE|aGg/aCg|R668T|1419|FMN1|protein_coding|CODING|ENST00000559047|exon_15_33381000_33381175 0/1:99:235,0,248 . . . 15 33446311 rs28507600 G C NON_SYNONYMOUS_CODING FMN1 MODERATE|MISSENSE|Cct/Gct|P269A|1321|FMN1|protein_coding|CODING|ENST00000561249|exon_15_33445249_33447241 0/1:99:173,0,199 0/1:99:206,0,232 1/1:63:253,33,0 0/1:99:229,0,140 15 33446311 rs28507600 G C NON_SYNONYMOUS_CODING FMN1 MODERATE|MISSENSE|Cct/Gct|P269A|1419|FMN1|protein_coding|CODING|ENST00000559047|exon_15_33445249_33447115 0/1:99:173,0,199 0/1:99:206,0,232 1/1:63:253,33,0 0/1:99:229,0,140 15 33446311 rs28507600 G C NON_SYNONYMOUS_CODING FMN1 MODERATE|MISSENSE|Cct/Gct|P269A|662|FMN1|protein_coding|CODING|ENST00000320930|exon_15_33445249_33447246 0/1:99:173,0,199 0/1:99:206,0,232 1/1:63:253,33,0 0/1:99:229,0,140 15 34635863 rs73376010 G C NON_SYNONYMOUS_CODING C15orf55 MODERATE|MISSENSE|aaG/aaC|K10N|1150|C15orf55|protein_coding|CODING|ENST00000438749|exon_15_34635611_34635903 . 0/1:99:255,0,252 . . 15 34673973 rs200220982 C T NON_SYNONYMOUS_CODING GOLGA8A MODERATE|MISSENSE|cGg/cAg|R370Q|460|GOLGA8A|protein_coding|CODING|ENST00000543376|exon_15_34673902_34674057 . 1/1:6:52,3,0 . . 15 34673973 rs200220982 C T NON_SYNONYMOUS_CODING GOLGA8A MODERATE|MISSENSE|cGg/cAg|R513Q|603|GOLGA8A|protein_coding|CODING|ENST00000359187|exon_15_34673902_34674057 . 1/1:6:52,3,0 . . 15 34673973 rs200220982 C T NON_SYNONYMOUS_CODING GOLGA8A MODERATE|MISSENSE|cGg/cAg|R513Q|603|GOLGA8A|protein_coding|CODING|ENST00000360553|exon_15_34673902_34674057 . 1/1:6:52,3,0 . . 15 34673973 rs200220982 C T NON_SYNONYMOUS_CODING GOLGA8A MODERATE|MISSENSE|cGg/cAg|R543Q|633|GOLGA8A|protein_coding|CODING|ENST00000432566|exon_15_34673902_34674057 . 1/1:6:52,3,0 . . 15 34674006 rs201334463 C T NON_SYNONYMOUS_CODING GOLGA8A MODERATE|MISSENSE|aGc/aAc|S359N|460|GOLGA8A|protein_coding|CODING|ENST00000543376|exon_15_34673902_34674057 . 1/1:5:50,2,0 . . 15 34674006 rs201334463 C T NON_SYNONYMOUS_CODING GOLGA8A MODERATE|MISSENSE|aGc/aAc|S502N|603|GOLGA8A|protein_coding|CODING|ENST00000359187|exon_15_34673902_34674057 . 1/1:5:50,2,0 . . 15 34674006 rs201334463 C T NON_SYNONYMOUS_CODING GOLGA8A MODERATE|MISSENSE|aGc/aAc|S502N|603|GOLGA8A|protein_coding|CODING|ENST00000360553|exon_15_34673902_34674057 . 1/1:5:50,2,0 . . 15 34674006 rs201334463 C T NON_SYNONYMOUS_CODING GOLGA8A MODERATE|MISSENSE|aGc/aAc|S532N|633|GOLGA8A|protein_coding|CODING|ENST00000432566|exon_15_34673902_34674057 . 1/1:5:50,2,0 . . 15 34820269 rs142225671 G A NON_SYNONYMOUS_CODING GOLGA8B MODERATE|MISSENSE|gCt/gTt|A379V|494|GOLGA8B|protein_coding|CODING|ENST00000268079|exon_15_34820123_34820278 . 0/1:3:51,0,0 . 1/1:45:60,25,0 15 34820269 rs142225671 G A NON_SYNONYMOUS_CODING GOLGA8B MODERATE|MISSENSE|gCt/gTt|A488V|603|GOLGA8B|protein_coding|CODING|ENST00000267731|exon_15_34820123_34820278 . 0/1:3:51,0,0 . 1/1:45:60,25,0 15 34820269 rs142225671 G A NON_SYNONYMOUS_CODING GOLGA8B MODERATE|MISSENSE|gCt/gTt|A488V|603|GOLGA8B|protein_coding|CODING|ENST00000342314|exon_15_34820123_34820278 . 0/1:3:51,0,0 . 1/1:45:60,25,0 15 34820269 rs142225671 G A NON_SYNONYMOUS_CODING GOLGA8B MODERATE|MISSENSE|gCt/gTt|A518V|633|GOLGA8B|protein_coding|CODING|ENST00000438958|exon_15_34820123_34820278 . 0/1:3:51,0,0 . 1/1:45:60,25,0 15 38776806 . AGGTGGTGGTGGTGGTGGTGGTGGTGGTGG AGGTGGTGGTGGTGGTGGTGG CODON_CHANGE_PLUS_CODON_DELETION FAM98B MODERATE||ggtggtggtgga/gga|GGGG423G|433|FAM98B|protein_coding|CODING|ENST00000397609|exon_15_38776456_38779911 . . 0/1:41:61,0,38 . 15 38776806 . AGGTGGTGGTGGTGGTGGTGGTGGTGGTGG AGGTGGTGGTGGTGGTGGTGG CODON_CHANGE_PLUS_CODON_DELETION FAM98B MODERATE||gtggtggtggag/gag|VVVE98E|100|FAM98B|protein_coding|CODING|ENST00000559431|exon_15_38776793_38776839 . . 0/1:41:61,0,38 . 15 39880822 rs2292305 A G NON_SYNONYMOUS_CODING THBS1 MODERATE|MISSENSE|Aca/Gca|T523A|1170|THBS1|protein_coding|CODING|ENST00000260356|exon_15_39880727_39880900 . 0/1:99:152,0,232 0/1:99:255,0,101 0/1:99:146,0,254 15 39886339 . A G NON_SYNONYMOUS_CODING THBS1 MODERATE|MISSENSE|Aaa/Gaa|K1103E|1170|THBS1|protein_coding|CODING|ENST00000260356|exon_15_39886300_39886397 . . . 0/1:99:231,0,244 15 39910052 rs16969386 C G NON_SYNONYMOUS_CODING FSIP1 MODERATE|MISSENSE|gGc/gCc|G528A|581|FSIP1|protein_coding|CODING|ENST00000350221|exon_15_39909936_39910446 . 0/1:99:255,0,214 0/1:99:255,0,255 0/1:99:255,0,225 15 39910404 rs12908846 G A NON_SYNONYMOUS_CODING FSIP1 MODERATE|MISSENSE|Ctt/Ttt|L411F|581|FSIP1|protein_coding|CODING|ENST00000350221|exon_15_39909936_39910446 . 0/1:99:201,0,255 0/1:99:232,0,255 0/1:99:255,0,233 15 39910431 rs10152640 A G NON_SYNONYMOUS_CODING FSIP1 MODERATE|MISSENSE|Tgt/Cgt|C402R|581|FSIP1|protein_coding|CODING|ENST00000350221|exon_15_39909936_39910446 . 0/1:99:180,0,255 0/1:99:229,0,230 0/1:99:218,0,255 15 40494810 rs28989187 G A NON_SYNONYMOUS_CODING BUB1B MODERATE|MISSENSE|cGa/cAa|R501Q|933|BUB1B|protein_coding|CODING|ENST00000442874|exon_15_40494790_40494895 0/1:99:187,0,221 . . . 15 40494810 rs28989187 G A NON_SYNONYMOUS_CODING BUB1B MODERATE|MISSENSE|cGa/cAa|R550Q|1050|BUB1B|protein_coding|CODING|ENST00000287598|exon_15_40494790_40494895 0/1:99:187,0,221 . . . 15 40494810 rs28989187 G A NON_SYNONYMOUS_CODING BUB1B MODERATE|MISSENSE|cGa/cAa|R564Q|1064|BUB1B|protein_coding|CODING|ENST00000412359|exon_15_40494790_40494895 0/1:99:187,0,221 . . . 15 40659476 rs35043215 G A NON_SYNONYMOUS_CODING DISP2 MODERATE|MISSENSE|gGg/gAg|G388E|1401|DISP2|protein_coding|CODING|ENST00000267889|exon_15_40659259_40663257 0/1:99:187,0,215 . . 0/1:99:213,0,143 15 40914831 rs33931006 C G NON_SYNONYMOUS_CODING CASC5 MODERATE|MISSENSE|aCt/aGt|T790S|1747|CASC5|protein_coding|CODING|ENST00000260369|exon_15_40912838_40917664 . . . 0/1:99:255,0,255 15 40914831 rs33931006 C G NON_SYNONYMOUS_CODING CASC5 MODERATE|MISSENSE|aCt/aGt|T790S|2316|CASC5|protein_coding|CODING|ENST00000399668|exon_15_40912838_40917838 . . . 0/1:99:255,0,255 15 40914831 rs33931006 C G NON_SYNONYMOUS_CODING CASC5 MODERATE|MISSENSE|aCt/aGt|T816S|2342|CASC5|protein_coding|CODING|ENST00000346991|exon_15_40912838_40917838 . . . 0/1:99:255,0,255 15 40916801 rs16970911 A G NON_SYNONYMOUS_CODING CASC5 MODERATE|MISSENSE|Acc/Gcc|T1447A|1747|CASC5|protein_coding|CODING|ENST00000260369|exon_15_40912838_40917664 . . . 0/1:99:255,0,255 15 40916801 rs16970911 A G NON_SYNONYMOUS_CODING CASC5 MODERATE|MISSENSE|Acc/Gcc|T1447A|2316|CASC5|protein_coding|CODING|ENST00000399668|exon_15_40912838_40917838 . . . 0/1:99:255,0,255 15 40916801 rs16970911 A G NON_SYNONYMOUS_CODING CASC5 MODERATE|MISSENSE|Acc/Gcc|T1473A|2342|CASC5|protein_coding|CODING|ENST00000346991|exon_15_40912838_40917838 . . . 0/1:99:255,0,255 15 41148988 rs142240169 G A NON_SYNONYMOUS_CODING SPINT1 MODERATE|MISSENSE|Gca/Aca|A236T|293|SPINT1|protein_coding|CODING|ENST00000564375|exon_15_41148968_41149165 . 0/1:99:202,0,202 . . 15 41148988 rs142240169 G A NON_SYNONYMOUS_CODING SPINT1 MODERATE|MISSENSE|Gca/Aca|A420T|471|SPINT1|protein_coding|CODING|ENST00000568580|exon_15_41148968_41149147 . 0/1:99:202,0,202 . . 15 41148988 rs142240169 G A NON_SYNONYMOUS_CODING SPINT1 MODERATE|MISSENSE|Gca/Aca|A436T|496|SPINT1|protein_coding|CODING|ENST00000536281|exon_15_41148968_41149369 . 0/1:99:202,0,202 . . 15 41148988 rs142240169 G A NON_SYNONYMOUS_CODING SPINT1 MODERATE|MISSENSE|Gca/Aca|A453T|513|SPINT1|protein_coding|CODING|ENST00000431806|exon_15_41148968_41149852 . 0/1:99:202,0,202 . . 15 41148988 rs142240169 G A NON_SYNONYMOUS_CODING SPINT1 MODERATE|MISSENSE|Gca/Aca|A453T|513|SPINT1|protein_coding|CODING|ENST00000562057|exon_15_41148968_41149853 . 0/1:99:202,0,202 . . 15 41148988 rs142240169 G A NON_SYNONYMOUS_CODING SPINT1 MODERATE|MISSENSE|Gca/Aca|A469T|529|SPINT1|protein_coding|CODING|ENST00000344051|exon_15_41148968_41150405 . 0/1:99:202,0,202 . . 15 41689043 rs200472799 G C NON_SYNONYMOUS_CODING NDUFAF1 MODERATE|MISSENSE|aCt/aGt|T72S|190|NDUFAF1|protein_coding|CODING|ENST00000558719|exon_15_41688685_41689338 0/1:99:255,0,255 . . . 15 41689043 rs200472799 G C NON_SYNONYMOUS_CODING NDUFAF1 MODERATE|MISSENSE|aCt/aGt|T72S|208|NDUFAF1|protein_coding|CODING|ENST00000560978|exon_15_41688685_41689338 0/1:99:255,0,255 . . . 15 41689043 rs200472799 G C NON_SYNONYMOUS_CODING NDUFAF1 MODERATE|MISSENSE|aCt/aGt|T72S|327|NDUFAF1|protein_coding|CODING|ENST00000260361|exon_15_41688685_41689338 0/1:99:255,0,255 . . . 15 41803754 rs55739813 G A NON_SYNONYMOUS_CODING LTK MODERATE|MISSENSE|cCg/cTg|P227L|477|LTK|protein_coding|CODING|ENST00000360087|exon_15_41803620_41803776 . . . 0/1:95:92,0,141 15 41803754 rs55739813 G A NON_SYNONYMOUS_CODING LTK MODERATE|MISSENSE|cCg/cTg|P227L|734|LTK|protein_coding|CODING|ENST00000453182|exon_15_41803620_41803776 . . . 0/1:95:92,0,141 15 41803754 rs55739813 G A NON_SYNONYMOUS_CODING LTK MODERATE|MISSENSE|cCg/cTg|P227L|803|LTK|protein_coding|CODING|ENST00000355166|exon_15_41803620_41803776 . . . 0/1:95:92,0,141 15 41803754 rs55739813 G A NON_SYNONYMOUS_CODING LTK MODERATE|MISSENSE|cCg/cTg|P227L|864|LTK|protein_coding|CODING|ENST00000263800|exon_15_41803620_41803776 . . . 0/1:95:92,0,141 15 41822163 rs61753586 C T NON_SYNONYMOUS_CODING RPAP1 MODERATE|MISSENSE|Gtg/Atg|V320M|1128|RPAP1|protein_coding|CODING|ENST00000561603|exon_15_41822062_41822177 . . . 0/1:99:165,0,189 15 41822163 rs61753586 C T NON_SYNONYMOUS_CODING RPAP1 MODERATE|MISSENSE|Gtg/Atg|V320M|1393|RPAP1|protein_coding|CODING|ENST00000304330|exon_15_41822062_41822177 . . . 0/1:99:165,0,189 15 41827757 rs2297382 T A NON_SYNONYMOUS_CODING RPAP1 MODERATE|MISSENSE|aAg/aTg|K165M|1128|RPAP1|protein_coding|CODING|ENST00000561603|exon_15_41827710_41827830 . . . 0/1:99:255,0,227 15 41827757 rs2297382 T A NON_SYNONYMOUS_CODING RPAP1 MODERATE|MISSENSE|aAg/aTg|K165M|1393|RPAP1|protein_coding|CODING|ENST00000304330|exon_15_41827710_41827830 . . . 0/1:99:255,0,227 15 41827757 rs2297382 T A NON_SYNONYMOUS_CODING RPAP1 MODERATE|MISSENSE|aAg/aTg|K165M|179|RPAP1|protein_coding|CODING|ENST00000567866|exon_15_41827710_41827830 . . . 0/1:99:255,0,227 15 42103137 rs200453027 G A NON_SYNONYMOUS_CODING MAPKBP1 MODERATE|MISSENSE|aGt/aAt|S88N|1231|MAPKBP1|protein_coding|CODING|ENST00000514566|exon_15_42103081_42103143 . . . 0/1:99:250,0,146 15 42103137 rs200453027 G A NON_SYNONYMOUS_CODING MAPKBP1 MODERATE|MISSENSE|aGt/aAt|S88N|1391|MAPKBP1|protein_coding|CODING|ENST00000221214|exon_15_42103081_42103143 . . . 0/1:99:250,0,146 15 42103137 rs200453027 G A NON_SYNONYMOUS_CODING MAPKBP1 MODERATE|MISSENSE|aGt/aAt|S88N|1508|MAPKBP1|protein_coding|CODING|ENST00000457542|exon_15_42103081_42103143 . . . 0/1:99:250,0,146 15 42103137 rs200453027 G A NON_SYNONYMOUS_CODING MAPKBP1 MODERATE|MISSENSE|aGt/aAt|S88N|1514|MAPKBP1|protein_coding|CODING|ENST00000456763|exon_15_42103081_42103143 . . . 0/1:99:250,0,146 15 42103137 rs200453027 G A NON_SYNONYMOUS_CODING MAPKBP1 MODERATE|MISSENSE|aGt/aAt|S88N|155|MAPKBP1|protein_coding|CODING|ENST00000510535|exon_15_42103081_42103143 . . . 0/1:99:250,0,146 15 42111846 rs144329674 C T NON_SYNONYMOUS_CODING MAPKBP1 MODERATE|MISSENSE|Cgg/Tgg|R666W|1347|MAPKBP1|protein_coding|CODING|ENST00000260357|exon_15_42111793_42111848 . . 0/1:99:119,0,233 . 15 42111846 rs144329674 C T NON_SYNONYMOUS_CODING MAPKBP1 MODERATE|MISSENSE|Cgg/Tgg|R710W|1391|MAPKBP1|protein_coding|CODING|ENST00000221214|exon_15_42111793_42111848 . . 0/1:99:119,0,233 . 15 42111846 rs144329674 C T NON_SYNONYMOUS_CODING MAPKBP1 MODERATE|MISSENSE|Cgg/Tgg|R827W|1231|MAPKBP1|protein_coding|CODING|ENST00000514566|exon_15_42111793_42111848 . . 0/1:99:119,0,233 . 15 42111846 rs144329674 C T NON_SYNONYMOUS_CODING MAPKBP1 MODERATE|MISSENSE|Cgg/Tgg|R827W|1508|MAPKBP1|protein_coding|CODING|ENST00000457542|exon_15_42111793_42111848 . . 0/1:99:119,0,233 . 15 42111846 rs144329674 C T NON_SYNONYMOUS_CODING MAPKBP1 MODERATE|MISSENSE|Cgg/Tgg|R833W|1514|MAPKBP1|protein_coding|CODING|ENST00000456763|exon_15_42111793_42111848 . . 0/1:99:119,0,233 . 15 42127058 . C T NON_SYNONYMOUS_CODING JMJD7-PLA2G4B MODERATE|MISSENSE|cCg/cTg|P62L|1012|JMJD7-PLA2G4B|protein_coding|CODING|ENST00000382448|exon_15_42126938_42127091 . 0/1:99:233,0,209 . . 15 42127058 . C T NON_SYNONYMOUS_CODING JMJD7-PLA2G4B MODERATE|MISSENSE|cCg/cTg|P62L|316|JMJD7-PLA2G4B|protein_coding|CODING|ENST00000542534|exon_15_42126938_42127091 . 0/1:99:233,0,209 . . 15 42127058 . C T NON_SYNONYMOUS_CODING JMJD7 MODERATE|MISSENSE|cCg/cTg|P62L|316|JMJD7|protein_coding|CODING|ENST00000397299|exon_15_42126938_42127091 . 0/1:99:233,0,209 . . 15 42127058 . C T NON_SYNONYMOUS_CODING JMJD7-PLA2G4B MODERATE|MISSENSE|cCg/cTg|P62L|893|JMJD7-PLA2G4B|protein_coding|CODING|ENST00000342159|exon_15_42126938_42127091 . 0/1:99:233,0,209 . . 15 42129307 . T A NON_SYNONYMOUS_CODING JMJD7 MODERATE|MISSENSE|Tac/Aac|Y203N|217|JMJD7|protein_coding|CODING|ENST00000405106|exon_15_42129266_42129779 . . 0/1:99:255,0,206 . 15 42129307 . T A NON_SYNONYMOUS_CODING JMJD7 MODERATE|MISSENSE|Tac/Aac|Y203N|217|JMJD7|protein_coding|CODING|ENST00000408047|exon_15_42129266_42129650 . . 0/1:99:255,0,206 . 15 42129307 . T A NON_SYNONYMOUS_CODING JMJD7-PLA2G4B MODERATE|MISSENSE|Tac/Aac|Y222N|236|JMJD7-PLA2G4B|protein_coding|CODING|ENST00000335032|exon_15_42129266_42129354 . . 0/1:99:255,0,206 . 15 42129307 . T A NON_SYNONYMOUS_CODING JMJD7-PLA2G4B MODERATE|MISSENSE|Tac/Aac|Y302N|316|JMJD7-PLA2G4B|protein_coding|CODING|ENST00000542534|exon_15_42129266_42129784 . . 0/1:99:255,0,206 . 15 42129307 . T A NON_SYNONYMOUS_CODING JMJD7 MODERATE|MISSENSE|Tac/Aac|Y302N|316|JMJD7|protein_coding|CODING|ENST00000397299|exon_15_42129266_42129779 . . 0/1:99:255,0,206 . 15 42158373 rs56198158 G A NON_SYNONYMOUS_CODING SPTBN5 MODERATE|MISSENSE|Cgg/Tgg|R2229W|3674|SPTBN5|protein_coding|CODING|ENST00000320955|exon_15_42158236_42158427 . . 0/1:99:250,0,191 . 15 42302330 . GCCCCCCC GCCCCCCCCCC CODON_CHANGE_PLUS_CODON_INSERTION PLA2G4E MODERATE||ggt/ggGGGt|G36GG|839|PLA2G4E|protein_coding|CODING|ENST00000413860|exon_15_42302277_42302445 . . . 1/1:10:72,6,0 15 42302439 . C T NON_SYNONYMOUS_CODING PLA2G4E MODERATE|MISSENSE|Gcc/Acc|A3T|839|PLA2G4E|protein_coding|CODING|ENST00000413860|exon_15_42302277_42302445 0/1:99:203,0,159 . . . 15 42363022 . C G NON_SYNONYMOUS_CODING PLA2G4D MODERATE|MISSENSE|Gtg/Ctg|V646L|818|PLA2G4D|protein_coding|CODING|ENST00000290472|exon_15_42362915_42363081 . . . 0/1:99:213,0,165 15 42371752 rs4924618 A T NON_SYNONYMOUS_CODING PLA2G4D MODERATE|MISSENSE|Tcc/Acc|S434T|818|PLA2G4D|protein_coding|CODING|ENST00000290472|exon_15_42371735_42371957 0/1:99:212,0,243 . . . 15 42373810 rs11635685 G C NON_SYNONYMOUS_CODING PLA2G4D MODERATE|MISSENSE|cCt/cGt|P275R|818|PLA2G4D|protein_coding|CODING|ENST00000290472|exon_15_42373677_42373812 0/1:99:255,0,114 . . . 15 42442823 rs73403546 G C NON_SYNONYMOUS_CODING PLA2G4F MODERATE|MISSENSE|Ctg/Gtg|L252V|454|PLA2G4F|protein_coding|CODING|ENST00000357924|exon_15_42442806_42442975 . . . 0/1:99:164,0,196 15 42442823 rs73403546 G C NON_SYNONYMOUS_CODING PLA2G4F MODERATE|MISSENSE|Ctg/Gtg|L252V|849|PLA2G4F|protein_coding|CODING|ENST00000382396|exon_15_42442806_42442975 . . . 0/1:99:164,0,196 15 42442823 rs73403546 G C NON_SYNONYMOUS_CODING PLA2G4F MODERATE|MISSENSE|Ctg/Gtg|L252V|851|PLA2G4F|protein_coding|CODING|ENST00000397272|exon_15_42442806_42442975 . . . 0/1:99:164,0,196 15 42442823 rs73403546 G C NON_SYNONYMOUS_CODING PLA2G4F MODERATE|MISSENSE|Ctg/Gtg|L252V|865|PLA2G4F|protein_coding|CODING|ENST00000443825|exon_15_42442806_42442975 . . . 0/1:99:164,0,196 15 42579949 rs145853612 G A NON_SYNONYMOUS_CODING GANC MODERATE|MISSENSE|Gaa/Aaa|E88K|139|GANC|protein_coding|CODING|ENST00000562859|exon_15_42579889_42580016 0/1:99:239,0,209 . . . 15 42579949 rs145853612 G A NON_SYNONYMOUS_CODING GANC MODERATE|MISSENSE|Gaa/Aaa|E88K|357|GANC|protein_coding|CODING|ENST00000566442|exon_15_42579889_42580016 0/1:99:239,0,209 . . . 15 42579949 rs145853612 G A NON_SYNONYMOUS_CODING GANC MODERATE|MISSENSE|Gaa/Aaa|E88K|914|GANC|protein_coding|CODING|ENST00000318010|exon_15_42579889_42580016 0/1:99:239,0,209 . . . 15 42618531 rs2578652 T A NON_SYNONYMOUS_CODING GANC MODERATE|MISSENSE|gaT/gaA|D443E|914|GANC|protein_coding|CODING|ENST00000318010|exon_15_42618496_42618622 . . 1/1:99:255,78,0 . 15 42643538 rs7180279 A G NON_SYNONYMOUS_CODING GANC MODERATE|MISSENSE|cAg/cGg|Q57R|102|GANC|protein_coding|CODING|ENST00000566690|exon_15_42643527_42643630 . . . 0/1:99:225,0,255 15 42643538 rs7180279 A G NON_SYNONYMOUS_CODING GANC MODERATE|MISSENSE|cAg/cGg|Q57R|112|GANC|protein_coding|CODING|ENST00000567596|exon_15_42643527_42643630 . . . 0/1:99:225,0,255 15 42643538 rs7180279 A G NON_SYNONYMOUS_CODING GANC MODERATE|MISSENSE|cAg/cGg|Q848R|914|GANC|protein_coding|CODING|ENST00000318010|exon_15_42643527_42643630 . . . 0/1:99:225,0,255 15 42977576 . C T NON_SYNONYMOUS_CODING STARD9 MODERATE|MISSENSE|gCc/gTc|A1267V|4700|STARD9|protein_coding|CODING|ENST00000290607|exon_15_42976314_42986540 0/1:99:248,0,178 . . . 15 42981022 rs28744617 A G NON_SYNONYMOUS_CODING STARD9 MODERATE|MISSENSE|Atg/Gtg|M2416V|4700|STARD9|protein_coding|CODING|ENST00000290607|exon_15_42976314_42986540 0/1:99:202,0,255 . . 0/1:99:178,0,156 15 42982340 rs8031218 C T NON_SYNONYMOUS_CODING STARD9 MODERATE|MISSENSE|aCc/aTc|T2855I|4700|STARD9|protein_coding|CODING|ENST00000290607|exon_15_42976314_42986540 0/1:99:244,0,255 . . . 15 42982891 rs149176049 A C NON_SYNONYMOUS_CODING STARD9 MODERATE|MISSENSE|Agc/Cgc|S3039R|4700|STARD9|protein_coding|CODING|ENST00000290607|exon_15_42976314_42986540 0/1:99:246,0,224 . . . 15 42983923 rs3742993 A G NON_SYNONYMOUS_CODING STARD9 MODERATE|MISSENSE|Aat/Gat|N3383D|4700|STARD9|protein_coding|CODING|ENST00000290607|exon_15_42976314_42986540 0/1:99:255,0,203 . . . 15 43020983 rs8023524 G A NON_SYNONYMOUS_CODING CDAN1 MODERATE|MISSENSE|Cgc/Tgc|R889C|1225|CDAN1|protein_coding|CODING|ENST00000267892|exon_15_43020850_43021008 0/1:92:195,0,89 . . . 15 43020983 rs8023524 G A NON_SYNONYMOUS_CODING CDAN1 MODERATE|MISSENSE|Cgc/Tgc|R891C|1227|CDAN1|protein_coding|CODING|ENST00000356231|exon_15_43020850_43021008 0/1:92:195,0,89 . . . 15 43622265 rs3742970 C A NON_SYNONYMOUS_CODING LCMT2 MODERATE|MISSENSE|agG/agT|R141S|686|LCMT2|protein_coding|CODING|ENST00000305641|exon_15_43619974_43622803 . . . 0/1:99:191,0,224 15 43820423 rs28438815 C T NON_SYNONYMOUS_CODING MAP1A MODERATE|MISSENSE|gCc/gTc|A2251V|2803|MAP1A|protein_coding|CODING|ENST00000300231|exon_15_43813522_43821706 . . . 0/1:99:134,0,175 15 43820423 rs28438815 C T NON_SYNONYMOUS_CODING MAP1A MODERATE|MISSENSE|gCc/gTc|A2251V|2805|MAP1A|protein_coding|CODING|ENST00000399453|exon_15_43813522_43821706 . . . 0/1:99:134,0,175 15 43820423 rs28438815 C T NON_SYNONYMOUS_CODING MAP1A MODERATE|MISSENSE|gCc/gTc|A2489V|3041|MAP1A|protein_coding|CODING|ENST00000382031|exon_15_43813522_43821706 . . . 0/1:99:134,0,175 15 43831689 rs202101760 G A NON_SYNONYMOUS_CODING PPIP5K1 MODERATE|MISSENSE|Cgc/Tgc|R1093C|1406|PPIP5K1|protein_coding|CODING|ENST00000348806|exon_15_43831668_43831781 0/1:99:255,0,227 . . . 15 43831689 rs202101760 G A NON_SYNONYMOUS_CODING PPIP5K1 MODERATE|MISSENSE|Cgc/Tgc|R1093C|1406|PPIP5K1|protein_coding|CODING|ENST00000360135|exon_15_43831668_43831781 0/1:99:255,0,227 . . . 15 43831689 rs202101760 G A NON_SYNONYMOUS_CODING PPIP5K1 MODERATE|MISSENSE|Cgc/Tgc|R1135C|1408|PPIP5K1|protein_coding|CODING|ENST00000334933|exon_15_43831668_43831781 0/1:99:255,0,227 . . . 15 43831689 rs202101760 G A NON_SYNONYMOUS_CODING PPIP5K1 MODERATE|MISSENSE|Cgc/Tgc|R1135C|1408|PPIP5K1|protein_coding|CODING|ENST00000360301|exon_15_43831668_43831781 0/1:99:255,0,227 . . . 15 43831689 rs202101760 G A NON_SYNONYMOUS_CODING PPIP5K1 MODERATE|MISSENSE|Cgc/Tgc|R1135C|1408|PPIP5K1|protein_coding|CODING|ENST00000381878|exon_15_43831668_43831781 0/1:99:255,0,227 . . . 15 43831689 rs202101760 G A NON_SYNONYMOUS_CODING PPIP5K1 MODERATE|MISSENSE|Cgc/Tgc|R1136C|1409|PPIP5K1|protein_coding|CODING|ENST00000381879|exon_15_43831668_43831781 0/1:99:255,0,227 . . . 15 43831689 rs202101760 G A NON_SYNONYMOUS_CODING PPIP5K1 MODERATE|MISSENSE|Cgc/Tgc|R1156C|1429|PPIP5K1|protein_coding|CODING|ENST00000381885|exon_15_43831668_43831781 0/1:99:255,0,227 . . . 15 43831689 rs202101760 G A NON_SYNONYMOUS_CODING PPIP5K1 MODERATE|MISSENSE|Cgc/Tgc|R1160C|1433|PPIP5K1|protein_coding|CODING|ENST00000304953|exon_15_43831668_43831781 0/1:99:255,0,227 . . . 15 43831689 rs202101760 G A NON_SYNONYMOUS_CODING PPIP5K1 MODERATE|MISSENSE|Cgc/Tgc|R1160C|1433|PPIP5K1|protein_coding|CODING|ENST00000396923|exon_15_43831668_43831781 0/1:99:255,0,227 . . . 15 43831689 rs202101760 G A NON_SYNONYMOUS_CODING PPIP5K1 MODERATE|MISSENSE|Cgc/Tgc|R1160C|1433|PPIP5K1|protein_coding|CODING|ENST00000420765|exon_15_43831668_43831781 0/1:99:255,0,227 . . . 15 43891413 rs149544188 G A NON_SYNONYMOUS_CODING CKMT1B MODERATE|MISSENSE|cGt/cAt|R399H|417|CKMT1B|protein_coding|CODING|ENST00000300283|exon_15_43891355_43891604 0/1:99:158,0,127 . . . 15 43891413 rs149544188 G A NON_SYNONYMOUS_CODING CKMT1B MODERATE|MISSENSE|cGt/cAt|R399H|417|CKMT1B|protein_coding|CODING|ENST00000441322|exon_15_43891355_43891604 0/1:99:158,0,127 . . . 15 43897499 rs2920780 T C NON_SYNONYMOUS_CODING STRC MODERATE|MISSENSE|cAc/cGc|H1298R|1775|STRC|protein_coding|CODING|ENST00000299992|exon_15_43897462_43897597 0/1:99:167,0,193 . . 1/1:23:164,13,0 15 43897499 rs2920780 T C NON_SYNONYMOUS_CODING STRC MODERATE|MISSENSE|cAc/cGc|H1298R|1775|STRC|protein_coding|CODING|ENST00000450892|exon_15_43897462_43897597 0/1:99:167,0,193 . . 1/1:23:164,13,0 15 43897499 rs2920780 T C NON_SYNONYMOUS_CODING STRC MODERATE|MISSENSE|cAc/cGc|H525R|1002|STRC|protein_coding|CODING|ENST00000541030|exon_15_43897462_43897597 0/1:99:167,0,193 . . 1/1:23:164,13,0 15 43910440 rs143613180 A G NON_SYNONYMOUS_CODING STRC MODERATE|MISSENSE|tTt/tCt|F60S|1775|STRC|protein_coding|CODING|ENST00000299992|exon_15_43909769_43910554 . 1/1:98:71,63,0 . . 15 43910440 rs143613180 A G NON_SYNONYMOUS_CODING STRC MODERATE|MISSENSE|tTt/tCt|F60S|1775|STRC|protein_coding|CODING|ENST00000450892|exon_15_43909769_43910554 . 1/1:98:71,63,0 . . 15 43910440 rs143613180 A G NON_SYNONYMOUS_CODING STRC MODERATE|MISSENSE|tTt/tCt|F60S|351|STRC|protein_coding|CODING|ENST00000456110|exon_15_43909769_43910554 . 1/1:98:71,63,0 . . 15 43924437 . C A NON_SYNONYMOUS_CODING CATSPER2 MODERATE|MISSENSE|caG/caT|Q505H|528|CATSPER2|protein_coding|CODING|ENST00000354127|exon_15_43924397_43924561 . . 0/1:99:231,0,255 . 15 43924437 . C A NON_SYNONYMOUS_CODING CATSPER2 MODERATE|MISSENSE|caG/caT|Q505H|528|CATSPER2|protein_coding|CODING|ENST00000396879|exon_15_43924397_43924561 . . 0/1:99:231,0,255 . 15 43924437 . C A NON_SYNONYMOUS_CODING CATSPER2 MODERATE|MISSENSE|caG/caT|Q507H|530|CATSPER2|protein_coding|CODING|ENST00000299989|exon_15_43924397_43924561 . . 0/1:99:231,0,255 . 15 43924437 . C A NON_SYNONYMOUS_CODING CATSPER2 MODERATE|MISSENSE|caG/caT|Q507H|530|CATSPER2|protein_coding|CODING|ENST00000321596|exon_15_43924397_43924561 . . 0/1:99:231,0,255 . 15 43924437 . C A NON_SYNONYMOUS_CODING CATSPER2 MODERATE|MISSENSE|caG/caT|Q511H|534|CATSPER2|protein_coding|CODING|ENST00000381761|exon_15_43924397_43924561 . . 0/1:99:231,0,255 . 15 43939642 rs8042868 C T NON_SYNONYMOUS_CODING CATSPER2 MODERATE|MISSENSE|Gta/Ata|V57I|414|CATSPER2|protein_coding|CODING|ENST00000355438|exon_15_43939492_43939665 0/1:99:255,0,255 . . 1/1:99:255,72,0 15 43939642 rs8042868 C T NON_SYNONYMOUS_CODING CATSPER2 MODERATE|MISSENSE|Gta/Ata|V57I|528|CATSPER2|protein_coding|CODING|ENST00000354127|exon_15_43939492_43939665 0/1:99:255,0,255 . . 1/1:99:255,72,0 15 43939642 rs8042868 C T NON_SYNONYMOUS_CODING CATSPER2 MODERATE|MISSENSE|Gta/Ata|V57I|528|CATSPER2|protein_coding|CODING|ENST00000396879|exon_15_43939492_43939665 0/1:99:255,0,255 . . 1/1:99:255,72,0 15 43939642 rs8042868 C T NON_SYNONYMOUS_CODING CATSPER2 MODERATE|MISSENSE|Gta/Ata|V57I|530|CATSPER2|protein_coding|CODING|ENST00000299989|exon_15_43939492_43939665 0/1:99:255,0,255 . . 1/1:99:255,72,0 15 43939642 rs8042868 C T NON_SYNONYMOUS_CODING CATSPER2 MODERATE|MISSENSE|Gta/Ata|V57I|530|CATSPER2|protein_coding|CODING|ENST00000321596|exon_15_43939492_43939665 0/1:99:255,0,255 . . 1/1:99:255,72,0 15 43939642 rs8042868 C T NON_SYNONYMOUS_CODING CATSPER2 MODERATE|MISSENSE|Gta/Ata|V57I|63|CATSPER2|protein_coding|CODING|ENST00000409481|exon_15_43939618_43939665 0/1:99:255,0,255 . . 1/1:99:255,72,0 15 43939642 rs8042868 C T NON_SYNONYMOUS_CODING CATSPER2 MODERATE|MISSENSE|Gta/Ata|V57I|78|CATSPER2|protein_coding|CODING|ENST00000432420|exon_15_43939572_43939665 0/1:99:255,0,255 . . 1/1:99:255,72,0 15 43939642 rs8042868 C T NON_SYNONYMOUS_CODING CATSPER2 MODERATE|MISSENSE|Gta/Ata|V63I|534|CATSPER2|protein_coding|CODING|ENST00000381761|exon_15_43939492_43939665 0/1:99:255,0,255 . . 1/1:99:255,72,0 15 44069069 rs2277531 G C NON_SYNONYMOUS_CODING ELL3 MODERATE|MISSENSE|Cag/Gag|Q11E|397|ELL3|protein_coding|CODING|ENST00000319359|exon_15_44068968_44069741 0/1:99:125,0,165 . . 1/1:99:255,51,0 15 44069069 rs2277531 G C NON_SYNONYMOUS_CODING ELL3 MODERATE|MISSENSE|Cag/Gag|Q41E|205|ELL3|protein_coding|CODING|ENST00000433927|exon_15_44068968_44069162 0/1:99:125,0,165 . . 1/1:99:255,51,0 15 44093927 rs12702 T C NON_SYNONYMOUS_CODING C15orf63 MODERATE|MISSENSE|Tct/Cct|S105P|129|C15orf63|protein_coding|CODING|ENST00000406925|exon_15_44093909_44094280 0/1:99:222,0,204 . . 1/1:99:255,105,0 15 44093927 rs12702 T C NON_SYNONYMOUS_CODING C15orf63 MODERATE|MISSENSE|Tct/Cct|S105P|129|C15orf63|protein_coding|CODING|ENST00000442995|exon_15_44093909_44094489 0/1:99:222,0,204 . . 1/1:99:255,105,0 15 44107202 rs116682844 C A NON_SYNONYMOUS_CODING MFAP1 MODERATE|MISSENSE|Gct/Tct|A124S|439|MFAP1|protein_coding|CODING|ENST00000267812|exon_15_44107143_44107272 0/1:99:255,0,255 . . . 15 45393014 rs61730030 G C NON_SYNONYMOUS_CODING DUOX2 MODERATE|MISSENSE|Ccc/Gcc|P982A|1548|DUOX2|protein_coding|CODING|ENST00000389039|exon_15_45392953_45393036 . . . 0/1:99:210,0,255 15 45398369 rs113400262 C T NON_SYNONYMOUS_CODING DUOX2 MODERATE|MISSENSE|cGa/cAa|R701Q|1548|DUOX2|protein_coding|CODING|ENST00000389039|exon_15_45398323_45398525 . . . 0/1:99:255,0,174 15 45398438 rs57659670 T C NON_SYNONYMOUS_CODING DUOX2 MODERATE|MISSENSE|cAt/cGt|H678R|1548|DUOX2|protein_coding|CODING|ENST00000389039|exon_15_45398323_45398525 . . . 0/1:99:213,0,244 15 45401120 rs201135069 C T NON_SYNONYMOUS_CODING DUOX2 MODERATE|MISSENSE|cGt/cAt|R422H|1548|DUOX2|protein_coding|CODING|ENST00000389039|exon_15_45400987_45401150 0/1:99:255,0,252 . . . 15 45409732 rs61751061 C G NON_SYNONYMOUS_CODING DUOXA1 MODERATE|MISSENSE|cGc/cCc|R433P|438|DUOXA1|protein_coding|CODING|ENST00000430224|exon_15_45409713_45410007 . . . 0/1:18:236,0,15 15 45409732 rs61751061 C G NON_SYNONYMOUS_CODING DUOXA1 MODERATE|MISSENSE|cGc/cCc|R478P|483|DUOXA1|protein_coding|CODING|ENST00000267803|exon_15_45409569_45410007 . . . 0/1:18:236,0,15 15 45409732 rs61751061 C G NON_SYNONYMOUS_CODING DUOXA1 MODERATE|MISSENSE|cGc/cCc|R478P|483|DUOXA1|protein_coding|CODING|ENST00000559014|exon_15_45409572_45410007 . . . 0/1:18:236,0,15 15 45440600 rs145668427 C T NON_SYNONYMOUS_CODING DUOX1 MODERATE|MISSENSE|Cgg/Tgg|R571W|1197|DUOX1|protein_coding|CODING|ENST00000561166|exon_15_45440470_45440645 . 0/1:99:239,0,158 . . 15 45440600 rs145668427 C T NON_SYNONYMOUS_CODING DUOX1 MODERATE|MISSENSE|Cgg/Tgg|R925W|1551|DUOX1|protein_coding|CODING|ENST00000321429|exon_15_45440470_45440645 . 0/1:99:239,0,158 . . 15 45440600 rs145668427 C T NON_SYNONYMOUS_CODING DUOX1 MODERATE|MISSENSE|Cgg/Tgg|R925W|1551|DUOX1|protein_coding|CODING|ENST00000389037|exon_15_45440470_45440645 . 0/1:99:239,0,158 . . 15 45440600 rs145668427 C T NON_SYNONYMOUS_CODING DUOX1 MODERATE|MISSENSE|Cgg/Tgg|R925W|1551|DUOX1|protein_coding|CODING|ENST00000431588|exon_15_45440470_45440645 . 0/1:99:239,0,158 . . 15 45442896 rs16939743 T C NON_SYNONYMOUS_CODING DUOX1 MODERATE|MISSENSE|aTc/aCc|I608T|1197|DUOX1|protein_coding|CODING|ENST00000561166|exon_15_45442830_45442899 0/1:99:137,0,238 . . . 15 45442896 rs16939743 T C NON_SYNONYMOUS_CODING DUOX1 MODERATE|MISSENSE|aTc/aCc|I962T|1551|DUOX1|protein_coding|CODING|ENST00000321429|exon_15_45442830_45442899 0/1:99:137,0,238 . . . 15 45442896 rs16939743 T C NON_SYNONYMOUS_CODING DUOX1 MODERATE|MISSENSE|aTc/aCc|I962T|1551|DUOX1|protein_coding|CODING|ENST00000389037|exon_15_45442830_45442899 0/1:99:137,0,238 . . . 15 45442896 rs16939743 T C NON_SYNONYMOUS_CODING DUOX1 MODERATE|MISSENSE|aTc/aCc|I962T|1551|DUOX1|protein_coding|CODING|ENST00000431588|exon_15_45442830_45442899 0/1:99:137,0,238 . . . 15 45968435 rs1044032 T C NON_SYNONYMOUS_CODING RP11-96O20.4.1 MODERATE|MISSENSE|aTt/aCt|I264T|288|RP11-96O20.4.1|protein_coding|CODING|ENST00000564080|exon_15_45968299_45968512 . . 0/1:99:178,0,255 0/1:99:157,0,183 15 45968435 rs1044032 T C NON_SYNONYMOUS_CODING SQRDL MODERATE|MISSENSE|aTt/aCt|I264T|450|SQRDL|protein_coding|CODING|ENST00000260324|exon_15_45968299_45968508 . . 0/1:99:178,0,255 0/1:99:157,0,183 15 45968435 rs1044032 T C NON_SYNONYMOUS_CODING SQRDL MODERATE|MISSENSE|aTt/aCt|I264T|450|SQRDL|protein_coding|CODING|ENST00000568606|exon_15_45968299_45968508 . . 0/1:99:178,0,255 0/1:99:157,0,183 15 48818452 . T C NON_SYNONYMOUS_CODING FBN1 MODERATE|MISSENSE|gAt/gGt|D288G|2871|FBN1|protein_coding|CODING|ENST00000316623|exon_15_48818327_48818452 0/1:99:255,0,255 . . . 15 49090175 rs2289181 G A NON_SYNONYMOUS_CODING CEP152 MODERATE|MISSENSE|tCg/tTg|S54L|1275|CEP152|protein_coding|CODING|ENST00000325747|exon_15_49090145_49090248 0/1:99:255,0,255 . . . 15 49090175 rs2289181 G A NON_SYNONYMOUS_CODING CEP152 MODERATE|MISSENSE|tCg/tTg|S54L|1654|CEP152|protein_coding|CODING|ENST00000399334|exon_15_49090145_49090248 0/1:99:255,0,255 . . . 15 49090175 rs2289181 G A NON_SYNONYMOUS_CODING CEP152 MODERATE|MISSENSE|tCg/tTg|S54L|1710|CEP152|protein_coding|CODING|ENST00000380950|exon_15_49090145_49090248 0/1:99:255,0,255 . . . 15 49090175 rs2289181 G A NON_SYNONYMOUS_CODING CEP152 MODERATE|MISSENSE|tCg/tTg|S54L|591|CEP152|protein_coding|CODING|ENST00000541880|exon_15_49090145_49090248 0/1:99:255,0,255 . . . 15 49090175 rs2289181 G A NON_SYNONYMOUS_CODING CEP152 MODERATE|MISSENSE|tCg/tTg|S54L|67|CEP152|protein_coding|CODING|ENST00000558591|exon_15_49090145_49090248 0/1:99:255,0,255 . . . 15 50271905 rs140655722 C T NON_SYNONYMOUS_CODING ATP8B4 MODERATE|MISSENSE|Gga/Aga|G315R|1192|ATP8B4|protein_coding|CODING|ENST00000284509|exon_15_50271814_50272010 . . . 0/1:99:255,0,255 15 50271905 rs140655722 C T NON_SYNONYMOUS_CODING ATP8B4 MODERATE|MISSENSE|Gga/Aga|G315R|1192|ATP8B4|protein_coding|CODING|ENST00000559829|exon_15_50271814_50272010 . . . 0/1:99:255,0,255 15 50782703 rs11638390 A G NON_SYNONYMOUS_CODING USP8 MODERATE|MISSENSE|Aca/Gca|T633A|1012|USP8|protein_coding|CODING|ENST00000425032|exon_15_50782460_50782722 . . . 0/1:99:255,0,255 15 50782703 rs11638390 A G NON_SYNONYMOUS_CODING USP8 MODERATE|MISSENSE|Aca/Gca|T739A|1118|USP8|protein_coding|CODING|ENST00000307179|exon_15_50782460_50782722 . . . 0/1:99:255,0,255 15 50782703 rs11638390 A G NON_SYNONYMOUS_CODING USP8 MODERATE|MISSENSE|Aca/Gca|T739A|1118|USP8|protein_coding|CODING|ENST00000396444|exon_15_50782460_50782722 . . . 0/1:99:255,0,255 15 50782703 rs11638390 A G NON_SYNONYMOUS_CODING USP8 MODERATE|MISSENSE|Aca/Gca|T739A|1118|USP8|protein_coding|CODING|ENST00000433963|exon_15_50782460_50782722 . . . 0/1:99:255,0,255 15 50878630 rs8042919 G A NON_SYNONYMOUS_CODING TRPM7 MODERATE|MISSENSE|aCt/aTt|T1482I|1864|TRPM7|protein_coding|CODING|ENST00000560955|exon_15_50878589_50878685 . . 0/1:99:255,0,255 . 15 50878630 rs8042919 G A NON_SYNONYMOUS_CODING TRPM7 MODERATE|MISSENSE|aCt/aTt|T1482I|1865|TRPM7|protein_coding|CODING|ENST00000313478|exon_15_50878589_50878685 . . 0/1:99:255,0,255 . 15 51012201 rs145209254 G C NON_SYNONYMOUS_CODING SPPL2A.1 MODERATE|MISSENSE|aCt/aGt|T475S|520|SPPL2A.1|protein_coding|CODING|ENST00000261854|exon_15_51012137_51012297 . 0/1:99:255,0,255 . . 15 51766637 . C A NON_SYNONYMOUS_CODING DMXL2 MODERATE|MISSENSE|Gca/Tca|A1736S|2400|DMXL2|protein_coding|CODING|ENST00000449909|exon_15_51766541_51766789 . 0/1:99:100,0,228 . . 15 51766637 . C A NON_SYNONYMOUS_CODING DMXL2 MODERATE|MISSENSE|Gca/Tca|A2372S|3036|DMXL2|protein_coding|CODING|ENST00000251076|exon_15_51766541_51766789 . 0/1:99:100,0,228 . . 15 51766637 . C A NON_SYNONYMOUS_CODING DMXL2 MODERATE|MISSENSE|Gca/Tca|A2373S|3037|DMXL2|protein_coding|CODING|ENST00000543779|exon_15_51766541_51766789 . 0/1:99:100,0,228 . . 15 52635394 rs61731219 T A NON_SYNONYMOUS_CODING MYO5A MODERATE|MISSENSE|agA/agT|R110S|227|MYO5A|protein_coding|CODING|ENST00000399228|exon_15_52635314_52635394 . 0/1:99:255,0,255 0/1:99:235,0,255 . 15 52635394 rs61731219 T A NON_SYNONYMOUS_CODING MYO5A MODERATE|MISSENSE|agA/agT|R113S|230|MYO5A|protein_coding|CODING|ENST00000568914|exon_15_52635314_52635394 . 0/1:99:255,0,255 0/1:99:235,0,255 . 15 52635394 rs61731219 T A NON_SYNONYMOUS_CODING MYO5A MODERATE|MISSENSE|agA/agT|R1317S|1852|MYO5A|protein_coding|CODING|ENST00000399233|exon_15_52635314_52635394 . 0/1:99:255,0,255 0/1:99:235,0,255 . 15 52635394 rs61731219 T A NON_SYNONYMOUS_CODING MYO5A MODERATE|MISSENSE|agA/agT|R1320S|1855|MYO5A|protein_coding|CODING|ENST00000399231|exon_15_52635314_52635394 . 0/1:99:255,0,255 0/1:99:235,0,255 . 15 52635394 rs61731219 T A NON_SYNONYMOUS_CODING MYO5A MODERATE|MISSENSE|agA/agT|R1320S|1880|MYO5A|protein_coding|CODING|ENST00000358212|exon_15_52635314_52635394 . 0/1:99:255,0,255 0/1:99:235,0,255 . 15 52903772 rs8036680 T C NON_SYNONYMOUS_CODING FAM214A MODERATE|MISSENSE|cAg/cGg|Q135R|1076|FAM214A|protein_coding|CODING|ENST00000261844|exon_15_52903772_52903974 0/1:99:255,0,255 . . . 15 52903772 rs8036680 T C NON_SYNONYMOUS_CODING FAM214A MODERATE|MISSENSE|cAg/cGg|Q135R|141|FAM214A|protein_coding|CODING|ENST00000562135|exon_15_52903772_52903974 0/1:99:255,0,255 . . . 15 52903772 rs8036680 T C NON_SYNONYMOUS_CODING FAM214A MODERATE|MISSENSE|cAg/cGg|Q142R|1083|FAM214A|protein_coding|CODING|ENST00000546305|exon_15_52903772_52903974 0/1:99:255,0,255 . . . 15 52903772 rs8036680 T C NON_SYNONYMOUS_CODING FAM214A MODERATE|MISSENSE|cAg/cGg|Q47R|937|FAM214A|protein_coding|CODING|ENST00000399202|exon_15_52903772_52903974 0/1:99:255,0,255 . . . 15 54003091 rs551225 G A NON_SYNONYMOUS_CODING WDR72 MODERATE|MISSENSE|cCt/cTt|P305L|1099|WDR72|protein_coding|CODING|ENST00000557913|exon_15_54003054_54003150 0/1:99:255,0,255 . 1/1:99:255,111,0 0/1:99:255,0,255 15 54003091 rs551225 G A NON_SYNONYMOUS_CODING WDR72 MODERATE|MISSENSE|cCt/cTt|P306L|1102|WDR72|protein_coding|CODING|ENST00000360509|exon_15_54003054_54003150 0/1:99:255,0,255 . 1/1:99:255,111,0 0/1:99:255,0,255 15 54003091 rs551225 G A NON_SYNONYMOUS_CODING WDR72 MODERATE|MISSENSE|cCt/cTt|P306L|1102|WDR72|protein_coding|CODING|ENST00000396328|exon_15_54003054_54003150 0/1:99:255,0,255 . 1/1:99:255,111,0 0/1:99:255,0,255 15 54003091 rs551225 G A NON_SYNONYMOUS_CODING WDR72 MODERATE|MISSENSE|cCt/cTt|P306L|774|WDR72|protein_coding|CODING|ENST00000560036|exon_15_54003054_54003150 0/1:99:255,0,255 . 1/1:99:255,111,0 0/1:99:255,0,255 15 54003091 rs551225 G A NON_SYNONYMOUS_CODING WDR72 MODERATE|MISSENSE|cCt/cTt|P318L|1112|WDR72|protein_coding|CODING|ENST00000559418|exon_15_54003054_54003150 0/1:99:255,0,255 . 1/1:99:255,111,0 0/1:99:255,0,255 15 55648575 rs116037872 A G NON_SYNONYMOUS_CODING CCPG1 MODERATE|MISSENSE|aTt/aCt|I373T|424|CCPG1|protein_coding|CODING|ENST00000425574|exon_15_55647843_55648607 0/1:99:255,0,255 . . . 15 55648575 rs116037872 A G NON_SYNONYMOUS_CODING CCPG1 MODERATE|MISSENSE|aTt/aCt|I756T|807|CCPG1|protein_coding|CODING|ENST00000442196|exon_15_55647437_55648607 0/1:99:255,0,255 . . . 15 55838585 rs11858624 G T NON_SYNONYMOUS_CODING PYGO1 MODERATE|MISSENSE|cCt/cAt|P299H|419|PYGO1|protein_coding|CODING|ENST00000302000|exon_15_55831088_55839345 . . 0/1:99:255,0,255 0/1:99:255,0,255 15 55838585 rs11858624 G T NON_SYNONYMOUS_CODING PYGO1 MODERATE|MISSENSE|cCt/cAt|P299H|419|PYGO1|protein_coding|CODING|ENST00000401688|exon_15_55836892_55839345 . . 0/1:99:255,0,255 0/1:99:255,0,255 15 55838585 rs11858624 G T NON_SYNONYMOUS_CODING PYGO1 MODERATE|MISSENSE|cCt/cAt|P299H|419|PYGO1|protein_coding|CODING|ENST00000563719|exon_15_55836885_55839345 . . 0/1:99:255,0,255 0/1:99:255,0,255 15 56161779 rs200302839 C G NON_SYNONYMOUS_CODING NEDD4 MODERATE|MISSENSE|Gag/Cag|E169Q|900|NEDD4|protein_coding|CODING|ENST00000435532|exon_15_56161777_56161879 . . 0/1:99:255,0,255 . 15 56161779 rs200302839 C G NON_SYNONYMOUS_CODING NEDD4 MODERATE|MISSENSE|Gag/Cag|E588Q|1303|NEDD4|protein_coding|CODING|ENST00000506154|exon_15_56161777_56161879 . . 0/1:99:255,0,255 . 15 56161779 rs200302839 C G NON_SYNONYMOUS_CODING NEDD4 MODERATE|MISSENSE|Gag/Cag|E588Q|1319|NEDD4|protein_coding|CODING|ENST00000508342|exon_15_56161777_56161879 . . 0/1:99:255,0,255 . 15 56208933 rs1912403 T C NON_SYNONYMOUS_CODING NEDD4 MODERATE|MISSENSE|Atg/Gtg|M33V|1247|NEDD4|protein_coding|CODING|ENST00000338963|exon_15_56207482_56209329 . 1/1:99:255,90,0 . 0/1:99:255,0,255 15 56208933 rs1912403 T C NON_SYNONYMOUS_CODING NEDD4 MODERATE|MISSENSE|Atg/Gtg|M33V|1303|NEDD4|protein_coding|CODING|ENST00000506154|exon_15_56207482_56209306 . 1/1:99:255,90,0 . 0/1:99:255,0,255 15 56208933 rs1912403 T C NON_SYNONYMOUS_CODING NEDD4 MODERATE|MISSENSE|Atg/Gtg|M33V|1319|NEDD4|protein_coding|CODING|ENST00000508342|exon_15_56207482_56209329 . 1/1:99:255,90,0 . 0/1:99:255,0,255 15 56923895 rs61741526 C A NON_SYNONYMOUS_CODING ZNF280D MODERATE|MISSENSE|gGc/gTc|G1078V|1143|ZNF280D|protein_coding|CODING|ENST00000559237|exon_15_56922379_56924320 . . . 0/1:99:255,0,255 15 56923895 rs61741526 C A NON_SYNONYMOUS_CODING ZNF280D MODERATE|MISSENSE|gGc/gTc|G901V|966|ZNF280D|protein_coding|CODING|ENST00000455329|exon_15_56922379_56924320 . . . 0/1:99:255,0,255 15 56923895 rs61741526 C A NON_SYNONYMOUS_CODING ZNF280D MODERATE|MISSENSE|gGc/gTc|G914V|979|ZNF280D|protein_coding|CODING|ENST00000267807|exon_15_56922525_56924320 . . . 0/1:99:255,0,255 15 61521374 . G A NON_SYNONYMOUS_CODING RORA MODERATE|MISSENSE|cCa/cTa|P15L|523|RORA|protein_coding|CODING|ENST00000335670|exon_15_61521252_61521518 0/1:65:62,0,180 . . . 15 62214607 rs12907567 C T NON_SYNONYMOUS_CODING VPS13C MODERATE|MISSENSE|Gtg/Atg|V2279M|3585|VPS13C|protein_coding|CODING|ENST00000395898|exon_15_62214596_62214961 . 0/1:99:255,0,255 . . 15 62214607 rs12907567 C T NON_SYNONYMOUS_CODING VPS13C MODERATE|MISSENSE|Gtg/Atg|V2279M|3710|VPS13C|protein_coding|CODING|ENST00000249837|exon_15_62214596_62214961 . 0/1:99:255,0,255 . . 15 62214607 rs12907567 C T NON_SYNONYMOUS_CODING VPS13C MODERATE|MISSENSE|Gtg/Atg|V2322M|3628|VPS13C|protein_coding|CODING|ENST00000395896|exon_15_62214596_62214961 . 0/1:99:255,0,255 . . 15 62214607 rs12907567 C T NON_SYNONYMOUS_CODING VPS13C MODERATE|MISSENSE|Gtg/Atg|V2322M|3753|VPS13C|protein_coding|CODING|ENST00000261517|exon_15_62214596_62214961 . 0/1:99:255,0,255 . . 15 62243197 rs11629598 T C NON_SYNONYMOUS_CODING VPS13C MODERATE|MISSENSE|Att/Gtt|I1452V|3585|VPS13C|protein_coding|CODING|ENST00000395898|exon_15_62243144_62243223 . 0/1:99:255,0,255 . . 15 62243197 rs11629598 T C NON_SYNONYMOUS_CODING VPS13C MODERATE|MISSENSE|Att/Gtt|I1452V|3710|VPS13C|protein_coding|CODING|ENST00000249837|exon_15_62243144_62243223 . 0/1:99:255,0,255 . . 15 62243197 rs11629598 T C NON_SYNONYMOUS_CODING VPS13C MODERATE|MISSENSE|Att/Gtt|I1495V|3628|VPS13C|protein_coding|CODING|ENST00000395896|exon_15_62243144_62243223 . 0/1:99:255,0,255 . . 15 62243197 rs11629598 T C NON_SYNONYMOUS_CODING VPS13C MODERATE|MISSENSE|Att/Gtt|I1495V|3753|VPS13C|protein_coding|CODING|ENST00000261517|exon_15_62243144_62243223 . 0/1:99:255,0,255 . . 15 62253791 rs2303405 T C NON_SYNONYMOUS_CODING VPS13C MODERATE|MISSENSE|tAt/tGt|Y1259C|3585|VPS13C|protein_coding|CODING|ENST00000395898|exon_15_62253788_62254092 . 0/1:99:255,0,255 . . 15 62253791 rs2303405 T C NON_SYNONYMOUS_CODING VPS13C MODERATE|MISSENSE|tAt/tGt|Y1259C|3710|VPS13C|protein_coding|CODING|ENST00000249837|exon_15_62253788_62254092 . 0/1:99:255,0,255 . . 15 62253791 rs2303405 T C NON_SYNONYMOUS_CODING VPS13C MODERATE|MISSENSE|tAt/tGt|Y1302C|3628|VPS13C|protein_coding|CODING|ENST00000395896|exon_15_62253788_62254092 . 0/1:99:255,0,255 . . 15 62253791 rs2303405 T C NON_SYNONYMOUS_CODING VPS13C MODERATE|MISSENSE|tAt/tGt|Y1302C|3753|VPS13C|protein_coding|CODING|ENST00000261517|exon_15_62253788_62254092 . 0/1:99:255,0,255 . . 15 62360485 rs146097394 C G NON_SYNONYMOUS_CODING C2CD4A MODERATE|MISSENSE|Cgg/Ggg|R225G|369|C2CD4A|protein_coding|CODING|ENST00000355522|exon_15_62359784_62361103 . 0/1:17:116,0,14 . . 15 62456852 . C A NON_SYNONYMOUS_CODING C2CD4B MODERATE|MISSENSE|cGc/cTc|R111L|364|C2CD4B|protein_coding|CODING|ENST00000380392|exon_15_62455734_62457223 0/1:90:127,0,87 . . . 15 62456945 rs8025811 G A NON_SYNONYMOUS_CODING C2CD4B MODERATE|MISSENSE|cCg/cTg|P80L|364|C2CD4B|protein_coding|CODING|ENST00000380392|exon_15_62455734_62457223 . 0/1:99:103,0,125 . . 15 63569902 rs117618017 C T NON_SYNONYMOUS_CODING APH1B MODERATE|MISSENSE|aCc/aTc|T27I|216|APH1B|protein_coding|CODING|ENST00000380343|exon_15_63569809_63569935 . 0/1:96:93,0,159 . 0/1:99:141,0,127 15 63569902 rs117618017 C T NON_SYNONYMOUS_CODING APH1B MODERATE|MISSENSE|aCc/aTc|T27I|221|APH1B|protein_coding|CODING|ENST00000560353|exon_15_63569817_63569935 . 0/1:96:93,0,159 . 0/1:99:141,0,127 15 63569902 rs117618017 C T NON_SYNONYMOUS_CODING APH1B MODERATE|MISSENSE|aCc/aTc|T27I|257|APH1B|protein_coding|CODING|ENST00000261879|exon_15_63569753_63569935 . 0/1:96:93,0,159 . 0/1:99:141,0,127 15 63916481 . C T NON_SYNONYMOUS_CODING HERC1 MODERATE|MISSENSE|Gga/Aga|G4441R|4861|HERC1|protein_coding|CODING|ENST00000443617|exon_15_63916357_63916526 . . . 0/1:99:255,0,255 15 64428559 rs1802376 G A NON_SYNONYMOUS_CODING SNX1 MODERATE|MISSENSE|Gac/Aac|D11N|70|SNX1|protein_coding|CODING|ENST00000560861|exon_15_64428529_64428609 . . 0/1:99:239,0,197 . 15 64428559 rs1802376 G A NON_SYNONYMOUS_CODING SNX1 MODERATE|MISSENSE|Gac/Aac|D248N|304|SNX1|protein_coding|CODING|ENST00000560829|exon_15_64428529_64428609 . . 0/1:99:239,0,197 . 15 64428559 rs1802376 G A NON_SYNONYMOUS_CODING SNX1 MODERATE|MISSENSE|Gac/Aac|D401N|457|SNX1|protein_coding|CODING|ENST00000561026|exon_15_64428529_64428609 . . 0/1:99:239,0,197 . 15 64428559 rs1802376 G A NON_SYNONYMOUS_CODING SNX1 MODERATE|MISSENSE|Gac/Aac|D418N|474|SNX1|protein_coding|CODING|ENST00000353874|exon_15_64428529_64428609 . . 0/1:99:239,0,197 . 15 64428559 rs1802376 G A NON_SYNONYMOUS_CODING SNX1 MODERATE|MISSENSE|Gac/Aac|D466N|522|SNX1|protein_coding|CODING|ENST00000559844|exon_15_64428529_64428609 . . 0/1:99:239,0,197 . 15 64428559 rs1802376 G A NON_SYNONYMOUS_CODING SNX1 MODERATE|MISSENSE|Gac/Aac|D466N|557|SNX1|protein_coding|CODING|ENST00000261889|exon_15_64428529_64428609 . . 0/1:99:239,0,197 . 15 64446283 rs115888778 T A NON_SYNONYMOUS_CODING SNX22 MODERATE|MISSENSE|aTc/aAc|I153N|174|SNX22|protein_coding|CODING|ENST00000380278|exon_15_64446134_64447090 . 0/1:99:148,0,189 . . 15 65321938 rs2946655 A G NON_SYNONYMOUS_CODING MTFMT MODERATE|MISSENSE|gTg/gCg|V5A|389|MTFMT|protein_coding|CODING|ENST00000220058|exon_15_65321743_65321965 . 1/1:99:255,66,0 . . 15 65489880 rs34908405 T G NON_SYNONYMOUS_CODING CILP MODERATE|MISSENSE|tAc/tCc|Y915S|1184|CILP|protein_coding|CODING|ENST00000261883|exon_15_65488337_65491437 . 0/1:99:255,0,164 . . 15 65621837 . C T NON_SYNONYMOUS_CODING IGDCC3 MODERATE|MISSENSE|cGg/cAg|R699Q|814|IGDCC3|protein_coding|CODING|ENST00000327987|exon_15_65621728_65621935 . . . 0/1:99:134,0,196 15 65863917 rs2279854 A C NON_SYNONYMOUS_CODING PTPLAD1 MODERATE|MISSENSE|Atg/Ctg|M152L|245|PTPLAD1|protein_coding|CODING|ENST00000562901|exon_15_65863886_65863992 . . . 0/1:99:255,0,215 15 65863917 rs2279854 A C NON_SYNONYMOUS_CODING PTPLAD1 MODERATE|MISSENSE|Atg/Ctg|M152L|245|PTPLAD1|protein_coding|CODING|ENST00000566074|exon_15_65863886_65863992 . . . 0/1:99:255,0,215 15 65863917 rs2279854 A C NON_SYNONYMOUS_CODING PTPLAD1 MODERATE|MISSENSE|Atg/Ctg|M152L|245|PTPLAD1|protein_coding|CODING|ENST00000566511|exon_15_65863886_65863992 . . . 0/1:99:255,0,215 15 65863917 rs2279854 A C NON_SYNONYMOUS_CODING PTPLAD1 MODERATE|MISSENSE|Atg/Ctg|M152L|245|PTPLAD1|protein_coding|CODING|ENST00000569894|exon_15_65863886_65863992 . . . 0/1:99:255,0,215 15 65863917 rs2279854 A C NON_SYNONYMOUS_CODING PTPLAD1 MODERATE|MISSENSE|Atg/Ctg|M214L|307|PTPLAD1|protein_coding|CODING|ENST00000442729|exon_15_65863886_65863992 . . . 0/1:99:255,0,215 15 65863917 rs2279854 A C NON_SYNONYMOUS_CODING PTPLAD1 MODERATE|MISSENSE|Atg/Ctg|M244L|337|PTPLAD1|protein_coding|CODING|ENST00000568793|exon_15_65863886_65863992 . . . 0/1:99:255,0,215 15 65863917 rs2279854 A C NON_SYNONYMOUS_CODING PTPLAD1 MODERATE|MISSENSE|Atg/Ctg|M269L|362|PTPLAD1|protein_coding|CODING|ENST00000261875|exon_15_65863886_65863992 . . . 0/1:99:255,0,215 15 65863917 rs2279854 A C NON_SYNONYMOUS_CODING PTPLAD1 MODERATE|MISSENSE|Atg/Ctg|M307L|400|PTPLAD1|protein_coding|CODING|ENST00000565299|exon_15_65863886_65863992 . . . 0/1:99:255,0,215 15 65917355 rs35571449 T G NON_SYNONYMOUS_CODING SLC24A1 MODERATE|MISSENSE|Ttg/Gtg|L313V|1012|SLC24A1|protein_coding|CODING|ENST00000537259|exon_15_65916293_65918308 . . . 0/1:99:228,0,202 15 65917355 rs35571449 T G NON_SYNONYMOUS_CODING SLC24A1 MODERATE|MISSENSE|Ttg/Gtg|L313V|1069|SLC24A1|protein_coding|CODING|ENST00000399033|exon_15_65916337_65918308 . . . 0/1:99:228,0,202 15 65917355 rs35571449 T G NON_SYNONYMOUS_CODING SLC24A1 MODERATE|MISSENSE|Ttg/Gtg|L313V|1081|SLC24A1|protein_coding|CODING|ENST00000339868|exon_15_65916293_65918308 . . . 0/1:99:228,0,202 15 65917355 rs35571449 T G NON_SYNONYMOUS_CODING SLC24A1 MODERATE|MISSENSE|Ttg/Gtg|L313V|1081|SLC24A1|protein_coding|CODING|ENST00000546330|exon_15_65916419_65918308 . . . 0/1:99:228,0,202 15 65917355 rs35571449 T G NON_SYNONYMOUS_CODING SLC24A1 MODERATE|MISSENSE|Ttg/Gtg|L313V|1099|SLC24A1|protein_coding|CODING|ENST00000261892|exon_15_65916293_65918308 . . . 0/1:99:228,0,202 15 65917355 rs35571449 T G NON_SYNONYMOUS_CODING SLC24A1 MODERATE|MISSENSE|Ttg/Gtg|L313V|985|SLC24A1|protein_coding|CODING|ENST00000544319|exon_15_65916293_65918308 . . . 0/1:99:228,0,202 15 66621346 rs17258507 A G NON_SYNONYMOUS_CODING DIS3L MODERATE|MISSENSE|aAc/aGc|N664S|971|DIS3L|protein_coding|CODING|ENST00000319194|exon_15_66621308_66621462 0/1:99:216,0,255 . . . 15 66621346 rs17258507 A G NON_SYNONYMOUS_CODING DIS3L MODERATE|MISSENSE|aAc/aGc|N747S|1054|DIS3L|protein_coding|CODING|ENST00000319212|exon_15_66621308_66621462 0/1:99:216,0,255 . . . 15 66629394 rs34848112 T C NON_SYNONYMOUS_CODING TIPIN MODERATE|MISSENSE|Aat/Gat|N169D|200|TIPIN|protein_coding|CODING|ENST00000367709|exon_15_66628722_66629519 0/1:99:173,0,255 . . . 15 66629394 rs34848112 T C NON_SYNONYMOUS_CODING TIPIN MODERATE|MISSENSE|Aat/Gat|N270D|293|TIPIN|protein_coding|CODING|ENST00000562124|exon_15_66629319_66629519 0/1:99:173,0,255 . . . 15 66629394 rs34848112 T C NON_SYNONYMOUS_CODING TIPIN MODERATE|MISSENSE|Aat/Gat|N270D|301|TIPIN|protein_coding|CODING|ENST00000261881|exon_15_66628544_66629519 0/1:99:173,0,255 . . . 15 66832466 rs75532475 A G NON_SYNONYMOUS_CODING ZWILCH MODERATE|MISSENSE|atA/atG|I421M|477|ZWILCH|protein_coding|CODING|ENST00000446801|exon_15_66832436_66832548 . . . 0/1:99:243,0,255 15 66832466 rs75532475 A G NON_SYNONYMOUS_CODING ZWILCH MODERATE|MISSENSE|atA/atG|I421M|477|ZWILCH|protein_coding|CODING|ENST00000535141|exon_15_66832436_66832548 . . . 0/1:99:243,0,255 15 66832466 rs75532475 A G NON_SYNONYMOUS_CODING ZWILCH MODERATE|MISSENSE|atA/atG|I421M|477|ZWILCH|protein_coding|CODING|ENST00000565627|exon_15_66832436_66832548 . . . 0/1:99:243,0,255 15 66832466 rs75532475 A G NON_SYNONYMOUS_CODING ZWILCH MODERATE|MISSENSE|atA/atG|I42M|98|ZWILCH|protein_coding|CODING|ENST00000567816|exon_15_66832436_66832548 . . . 0/1:99:243,0,255 15 66832466 rs75532475 A G NON_SYNONYMOUS_CODING ZWILCH MODERATE|MISSENSE|atA/atG|I535M|591|ZWILCH|protein_coding|CODING|ENST00000307897|exon_15_66832436_66832548 . . . 0/1:99:243,0,255 15 67814542 rs62015089 G A NON_SYNONYMOUS_CODING C15orf61 MODERATE|MISSENSE|aGg/aAg|R6K|60|C15orf61|protein_coding|CODING|ENST00000557807|exon_15_67814033_67814580 . . . 0/1:99:255,0,244 15 68119011 rs199971924 T G NON_SYNONYMOUS_CODING SKOR1 MODERATE|MISSENSE|cTa/cGa|L243R|926|SKOR1|protein_coding|CODING|ENST00000554240|exon_15_68118274_68120482 . 0/1:99:113,0,190 . . 15 68119011 rs199971924 T G NON_SYNONYMOUS_CODING SKOR1 MODERATE|MISSENSE|cTa/cGa|L254R|937|SKOR1|protein_coding|CODING|ENST00000554054|exon_15_68118274_68120482 . 0/1:99:113,0,190 . . 15 68119011 rs199971924 T G NON_SYNONYMOUS_CODING SKOR1 MODERATE|MISSENSE|cTa/cGa|L282R|965|SKOR1|protein_coding|CODING|ENST00000380035|exon_15_68118274_68120482 . 0/1:99:113,0,190 . . 15 68628163 rs2306022 C T NON_SYNONYMOUS_CODING ITGA11 MODERATE|MISSENSE|Gtg/Atg|V433M|1188|ITGA11|protein_coding|CODING|ENST00000315757|exon_15_68628035_68628183 . . 0/1:99:164,0,230 . 15 68628163 rs2306022 C T NON_SYNONYMOUS_CODING ITGA11 MODERATE|MISSENSE|Gtg/Atg|V433M|1189|ITGA11|protein_coding|CODING|ENST00000423218|exon_15_68628035_68628183 . . 0/1:99:164,0,230 . 15 68628163 rs2306022 C T NON_SYNONYMOUS_CODING ITGA11 MODERATE|MISSENSE|Gtg/Atg|V433M|650|ITGA11|protein_coding|CODING|ENST00000537153|exon_15_68628035_68628183 . . 0/1:99:164,0,230 . 15 68628163 rs2306022 C T NON_SYNONYMOUS_CODING ITGA11 MODERATE|MISSENSE|Gtg/Atg|V68M|823|ITGA11|protein_coding|CODING|ENST00000535491|exon_15_68628035_68628183 . . 0/1:99:164,0,230 . 15 68649574 rs200247746 C T NON_SYNONYMOUS_CODING ITGA11 MODERATE|MISSENSE|Gta/Ata|V222I|1188|ITGA11|protein_coding|CODING|ENST00000315757|exon_15_68649489_68649637 . . 0/1:99:255,0,255 . 15 68649574 rs200247746 C T NON_SYNONYMOUS_CODING ITGA11 MODERATE|MISSENSE|Gta/Ata|V222I|1189|ITGA11|protein_coding|CODING|ENST00000423218|exon_15_68649489_68649637 . . 0/1:99:255,0,255 . 15 68649574 rs200247746 C T NON_SYNONYMOUS_CODING ITGA11 MODERATE|MISSENSE|Gta/Ata|V222I|650|ITGA11|protein_coding|CODING|ENST00000537153|exon_15_68649489_68649637 . . 0/1:99:255,0,255 . 15 69238272 rs3743091 G T NON_SYNONYMOUS_CODING RP11-696L21.1.1 MODERATE|MISSENSE|ttG/ttT|L126F|188|RP11-696L21.1.1|protein_coding|CODING|ENST00000560188|exon_15_69237938_69238461 . . 0/1:99:255,0,255 . 15 69238272 rs3743091 G T NON_SYNONYMOUS_CODING SPESP1 MODERATE|MISSENSE|ttG/ttT|L133F|350|SPESP1|protein_coding|CODING|ENST00000310673|exon_15_69237938_69239150 . . 0/1:99:255,0,255 . 15 69729049 rs17310879 T C NON_SYNONYMOUS_CODING KIF23 MODERATE|MISSENSE|Ttt/Ctt|F332L|673|KIF23|protein_coding|CODING|ENST00000537891|exon_15_69728903_69729061 0/1:99:255,0,241 . . . 15 69729049 rs17310879 T C NON_SYNONYMOUS_CODING KIF23 MODERATE|MISSENSE|Ttt/Ctt|F332L|673|KIF23|protein_coding|CODING|ENST00000558585|exon_15_69728903_69729061 0/1:99:255,0,241 . . . 15 69729049 rs17310879 T C NON_SYNONYMOUS_CODING KIF23 MODERATE|MISSENSE|Ttt/Ctt|F515L|856|KIF23|protein_coding|CODING|ENST00000352331|exon_15_69728903_69729061 0/1:99:255,0,241 . . . 15 69729049 rs17310879 T C NON_SYNONYMOUS_CODING KIF23 MODERATE|MISSENSE|Ttt/Ctt|F515L|856|KIF23|protein_coding|CODING|ENST00000559279|exon_15_69728903_69729061 0/1:99:255,0,241 . . . 15 69729049 rs17310879 T C NON_SYNONYMOUS_CODING KIF23 MODERATE|MISSENSE|Ttt/Ctt|F515L|952|KIF23|protein_coding|CODING|ENST00000395392|exon_15_69728903_69729061 0/1:99:255,0,241 . . . 15 69729049 rs17310879 T C NON_SYNONYMOUS_CODING KIF23 MODERATE|MISSENSE|Ttt/Ctt|F515L|960|KIF23|protein_coding|CODING|ENST00000260363|exon_15_69728903_69729061 0/1:99:255,0,241 . . . 15 71305225 rs150157186 G A NON_SYNONYMOUS_CODING LRRC49 MODERATE|MISSENSE|cGt/cAt|R247H|374|LRRC49|protein_coding|CODING|ENST00000560158|exon_15_71305143_71305252 . . 0/1:99:255,0,255 . 15 71305225 rs150157186 G A NON_SYNONYMOUS_CODING LRRC49 MODERATE|MISSENSE|cGt/cAt|R265H|392|LRRC49|protein_coding|CODING|ENST00000560691|exon_15_71305143_71305252 . . 0/1:99:255,0,255 . 15 71305225 rs150157186 G A NON_SYNONYMOUS_CODING LRRC49 MODERATE|MISSENSE|cGt/cAt|R515H|642|LRRC49|protein_coding|CODING|ENST00000443425|exon_15_71305143_71305252 . . 0/1:99:255,0,255 . 15 71305225 rs150157186 G A NON_SYNONYMOUS_CODING LRRC49 MODERATE|MISSENSE|cGt/cAt|R549H|676|LRRC49|protein_coding|CODING|ENST00000544974|exon_15_71305143_71305252 . . 0/1:99:255,0,255 . 15 71305225 rs150157186 G A NON_SYNONYMOUS_CODING LRRC49 MODERATE|MISSENSE|cGt/cAt|R559H|686|LRRC49|protein_coding|CODING|ENST00000260382|exon_15_71305143_71305252 . . 0/1:99:255,0,255 . 15 71305225 rs150157186 G A NON_SYNONYMOUS_CODING LRRC49 MODERATE|MISSENSE|cGt/cAt|R564H|691|LRRC49|protein_coding|CODING|ENST00000560369|exon_15_71305143_71305252 . . 0/1:99:255,0,255 . 15 72063462 . CATGACT C CODON_DELETION THSD4 MODERATE||atgact/-|MT584-|658|THSD4|protein_coding|CODING|ENST00000357769|exon_15_72063403_72063547 . 0/1:99:126,0,255 . . 15 72063462 . CATGACT C CODON_DELETION THSD4 MODERATE||atgact/-|MT944-|1018|THSD4|protein_coding|CODING|ENST00000261862|exon_15_72063403_72063547 . 0/1:99:126,0,255 . . 15 72063462 . CATGACT C CODON_DELETION THSD4 MODERATE||atgact/-|MT944-|1018|THSD4|protein_coding|CODING|ENST00000355327|exon_15_72063403_72063547 . 0/1:99:126,0,255 . . 15 72170400 rs148435644 G A NON_SYNONYMOUS_CODING MYO9A MODERATE|MISSENSE|tCa/tTa|S1952L|2529|MYO9A|protein_coding|CODING|ENST00000444904|exon_15_72170381_72170572 . . . 0/1:99:255,0,255 15 72170400 rs148435644 G A NON_SYNONYMOUS_CODING MYO9A MODERATE|MISSENSE|tCa/tTa|S1971L|2396|MYO9A|protein_coding|CODING|ENST00000564571|exon_15_72170381_72170572 . . . 0/1:99:255,0,255 15 72170400 rs148435644 G A NON_SYNONYMOUS_CODING MYO9A MODERATE|MISSENSE|tCa/tTa|S1971L|2548|MYO9A|protein_coding|CODING|ENST00000356056|exon_15_72170381_72170572 . . . 0/1:99:255,0,255 15 72170400 rs148435644 G A NON_SYNONYMOUS_CODING MYO9A MODERATE|MISSENSE|tCa/tTa|S2042L|2619|MYO9A|protein_coding|CODING|ENST00000424560|exon_15_72170381_72170572 . . . 0/1:99:255,0,255 15 72172883 rs2306575 G C NON_SYNONYMOUS_CODING MYO9A MODERATE|MISSENSE|caC/caG|H1786Q|2529|MYO9A|protein_coding|CODING|ENST00000444904|exon_15_72172676_72172899 0/1:99:255,0,255 . . . 15 72172883 rs2306575 G C NON_SYNONYMOUS_CODING MYO9A MODERATE|MISSENSE|caC/caG|H1805Q|2396|MYO9A|protein_coding|CODING|ENST00000564571|exon_15_72172676_72172899 0/1:99:255,0,255 . . . 15 72172883 rs2306575 G C NON_SYNONYMOUS_CODING MYO9A MODERATE|MISSENSE|caC/caG|H1805Q|2548|MYO9A|protein_coding|CODING|ENST00000356056|exon_15_72172676_72172899 0/1:99:255,0,255 . . . 15 72172883 rs2306575 G C NON_SYNONYMOUS_CODING MYO9A MODERATE|MISSENSE|caC/caG|H1876Q|2619|MYO9A|protein_coding|CODING|ENST00000424560|exon_15_72172676_72172899 0/1:99:255,0,255 . . . 15 72190760 rs55738821 A G NON_SYNONYMOUS_CODING MYO9A MODERATE|MISSENSE|Tcc/Ccc|S1343P|2529|MYO9A|protein_coding|CODING|ENST00000444904|exon_15_72189802_72191373 . . . 0/1:99:255,0,211 15 72190760 rs55738821 A G NON_SYNONYMOUS_CODING MYO9A MODERATE|MISSENSE|Tcc/Ccc|S1362P|2396|MYO9A|protein_coding|CODING|ENST00000564571|exon_15_72189802_72191373 . . . 0/1:99:255,0,211 15 72190760 rs55738821 A G NON_SYNONYMOUS_CODING MYO9A MODERATE|MISSENSE|Tcc/Ccc|S1362P|2548|MYO9A|protein_coding|CODING|ENST00000356056|exon_15_72189802_72191373 . . . 0/1:99:255,0,211 15 72190760 rs55738821 A G NON_SYNONYMOUS_CODING MYO9A MODERATE|MISSENSE|Tcc/Ccc|S1362P|2619|MYO9A|protein_coding|CODING|ENST00000424560|exon_15_72189802_72191373 . . . 0/1:99:255,0,211 15 72190760 rs55738821 A G NON_SYNONYMOUS_CODING MYO9A MODERATE|MISSENSE|Tcc/Ccc|S982P|1301|MYO9A|protein_coding|CODING|ENST00000566885|exon_15_72189231_72191373 . . . 0/1:99:255,0,211 15 72461287 . C T NON_SYNONYMOUS_CODING GRAMD2 MODERATE|MISSENSE|cGa/cAa|R50Q|144|GRAMD2|protein_coding|CODING|ENST00000570275|exon_15_72461280_72461337 0/1:99:194,0,255 . . . 15 72461287 . C T NON_SYNONYMOUS_CODING GRAMD2 MODERATE|MISSENSE|cGa/cAa|R52Q|210|GRAMD2|protein_coding|CODING|ENST00000564129|exon_15_72461280_72461337 0/1:99:194,0,255 . . . 15 72461287 . C T NON_SYNONYMOUS_CODING GRAMD2 MODERATE|MISSENSE|cGa/cAa|R55Q|168|GRAMD2|protein_coding|CODING|ENST00000568594|exon_15_72461280_72461337 0/1:99:194,0,255 . . . 15 72461287 . C T NON_SYNONYMOUS_CODING GRAMD2 MODERATE|MISSENSE|cGa/cAa|R62Q|354|GRAMD2|protein_coding|CODING|ENST00000309731|exon_15_72461280_72461337 0/1:99:194,0,255 . . . 15 72873307 . A G NON_SYNONYMOUS_CODING ARIH1 MODERATE|MISSENSE|aAg/aGg|K454R|527|ARIH1|protein_coding|CODING|ENST00000299305|exon_15_72873072_72873332 . . . 0/1:99:255,0,255 15 72873307 . A G NON_SYNONYMOUS_CODING ARIH1 MODERATE|MISSENSE|aAg/aGg|K484R|557|ARIH1|protein_coding|CODING|ENST00000379887|exon_15_72873072_72873332 . . . 0/1:99:255,0,255 15 72954838 rs201770146 G A NON_SYNONYMOUS_CODING GOLGA6B MODERATE|MISSENSE|Gag/Aag|E365K|693|GOLGA6B|protein_coding|CODING|ENST00000421285|exon_15_72954593_72955101 0/1:90:119,0,87 . . . 15 72968522 rs61528429 T C NON_SYNONYMOUS_CODING HIGD2B MODERATE|MISSENSE|tAc/tGc|Y65C|106|HIGD2B|protein_coding|CODING|ENST00000311755|exon_15_72968124_72968728 0/1:99:208,0,255 . . . 15 73575430 rs118087147 C T NON_SYNONYMOUS_CODING NEO1 MODERATE|MISSENSE|Cgt/Tgt|R1119C|1450|NEO1|protein_coding|CODING|ENST00000558964|exon_15_73575305_73575452 0/1:99:251,0,255 . . . 15 73575430 rs118087147 C T NON_SYNONYMOUS_CODING NEO1 MODERATE|MISSENSE|Cgt/Tgt|R1130C|1408|NEO1|protein_coding|CODING|ENST00000560262|exon_15_73575305_73575452 0/1:99:251,0,255 . . . 15 73575430 rs118087147 C T NON_SYNONYMOUS_CODING NEO1 MODERATE|MISSENSE|Cgt/Tgt|R1130C|1461|NEO1|protein_coding|CODING|ENST00000261908|exon_15_73575305_73575452 0/1:99:251,0,255 . . . 15 73575430 rs118087147 C T NON_SYNONYMOUS_CODING NEO1 MODERATE|MISSENSE|Cgt/Tgt|R1130C|1461|NEO1|protein_coding|CODING|ENST00000339362|exon_15_73575305_73575452 0/1:99:251,0,255 . . . 15 73575430 rs118087147 C T NON_SYNONYMOUS_CODING NEO1 MODERATE|MISSENSE|Cgt/Tgt|R799C|1130|NEO1|protein_coding|CODING|ENST00000560328|exon_15_73575305_73575452 0/1:99:251,0,255 . . . 15 73575430 rs118087147 C T NON_SYNONYMOUS_CODING NEO1 MODERATE|MISSENSE|Cgt/Tgt|R841C|1172|NEO1|protein_coding|CODING|ENST00000379842|exon_15_73575305_73575452 0/1:99:251,0,255 . . . 15 74487969 rs971756 A T NON_SYNONYMOUS_CODING STRA6 MODERATE|MISSENSE|Ttg/Atg|L152M|159|STRA6|protein_coding|CODING|ENST00000432245|exon_15_74486728_74488016 . 0/1:99:158,0,255 0/1:99:255,0,255 . 15 74560776 rs56107695 G T NON_SYNONYMOUS_CODING CCDC33 MODERATE|MISSENSE|Ggc/Tgc|G175C|755|CCDC33|protein_coding|CODING|ENST00000398814|exon_15_74560683_74560799 . . 0/1:99:255,0,255 . 15 74560776 rs56107695 G T NON_SYNONYMOUS_CODING CCDC33 MODERATE|MISSENSE|Ggc/Tgc|G378C|1023|CCDC33|protein_coding|CODING|ENST00000321288|exon_15_74560683_74560799 . . 0/1:99:255,0,255 . 15 74622549 rs2277604 G T NON_SYNONYMOUS_CODING CCDC33 MODERATE|MISSENSE|cGg/cTg|R30L|333|CCDC33|protein_coding|CODING|ENST00000558821|exon_15_74622530_74622695 . . 0/1:99:204,0,228 . 15 74622549 rs2277604 G T NON_SYNONYMOUS_CODING CCDC33 MODERATE|MISSENSE|cGg/cTg|R30L|367|CCDC33|protein_coding|CODING|ENST00000268082|exon_15_74622530_74622695 . . 0/1:99:204,0,228 . 15 74622549 rs2277604 G T NON_SYNONYMOUS_CODING CCDC33 MODERATE|MISSENSE|cGg/cTg|R437L|755|CCDC33|protein_coding|CODING|ENST00000398814|exon_15_74622530_74622695 . . 0/1:99:204,0,228 . 15 74622549 rs2277604 G T NON_SYNONYMOUS_CODING CCDC33 MODERATE|MISSENSE|cGg/cTg|R640L|1023|CCDC33|protein_coding|CODING|ENST00000321288|exon_15_74622530_74622695 . . 0/1:99:204,0,228 . 15 75012987 rs1799814 G T NON_SYNONYMOUS_CODING CYP1A1 MODERATE|MISSENSE|aCc/aAc|T432N|483|CYP1A1|protein_coding|CODING|ENST00000395049|exon_15_75012771_75013115 . . 0/1:99:255,0,255 . 15 75012987 rs1799814 G T NON_SYNONYMOUS_CODING CYP1A1 MODERATE|MISSENSE|aCc/aAc|T433N|484|CYP1A1|protein_coding|CODING|ENST00000268062|exon_15_75012830_75013115 . . 0/1:99:255,0,255 . 15 75012987 rs1799814 G T NON_SYNONYMOUS_CODING CYP1A1 MODERATE|MISSENSE|aCc/aAc|T461N|512|CYP1A1|protein_coding|CODING|ENST00000379727|exon_15_75011883_75013115 . . 0/1:99:255,0,255 . 15 75012987 rs1799814 G T NON_SYNONYMOUS_CODING CYP1A1 MODERATE|MISSENSE|aCc/aAc|T461N|512|CYP1A1|protein_coding|CODING|ENST00000395048|exon_15_75011883_75013115 . . 0/1:99:255,0,255 . 15 75012987 rs1799814 G T NON_SYNONYMOUS_CODING CYP1A1 MODERATE|MISSENSE|aCc/aAc|T461N|512|CYP1A1|protein_coding|CODING|ENST00000567032|exon_15_75012497_75013115 . . 0/1:99:255,0,255 . 15 75015305 rs4646422 C T NON_SYNONYMOUS_CODING CYP1A1 MODERATE|MISSENSE|gGc/gAc|G45D|483|CYP1A1|protein_coding|CODING|ENST00000395049|exon_15_75014614_75015467 0/1:99:198,0,255 . . . 15 75015305 rs4646422 C T NON_SYNONYMOUS_CODING CYP1A1 MODERATE|MISSENSE|gGc/gAc|G45D|484|CYP1A1|protein_coding|CODING|ENST00000268062|exon_15_75014779_75015438 0/1:99:198,0,255 . . . 15 75015305 rs4646422 C T NON_SYNONYMOUS_CODING CYP1A1 MODERATE|MISSENSE|gGc/gAc|G45D|512|CYP1A1|protein_coding|CODING|ENST00000379727|exon_15_75014614_75015467 0/1:99:198,0,255 . . . 15 75015305 rs4646422 C T NON_SYNONYMOUS_CODING CYP1A1 MODERATE|MISSENSE|gGc/gAc|G45D|512|CYP1A1|protein_coding|CODING|ENST00000395048|exon_15_75014614_75015464 0/1:99:198,0,255 . . . 15 75015305 rs4646422 C T NON_SYNONYMOUS_CODING CYP1A1 MODERATE|MISSENSE|gGc/gAc|G45D|512|CYP1A1|protein_coding|CODING|ENST00000567032|exon_15_75014614_75015467 0/1:99:198,0,255 . . . 15 75182428 . G T NON_SYNONYMOUS_CODING MPI MODERATE|MISSENSE|cGa/cTa|R5L|124|MPI|protein_coding|CODING|ENST00000562800|exon_15_75182383_75182430 . 0/1:99:251,0,182 . . 15 75182428 . G T NON_SYNONYMOUS_CODING MPI MODERATE|MISSENSE|cGa/cTa|R5L|167|MPI|protein_coding|CODING|ENST00000568907|exon_15_75182383_75182430 . 0/1:99:251,0,182 . . 15 75182428 . G T NON_SYNONYMOUS_CODING MPI MODERATE|MISSENSE|cGa/cTa|R5L|173|MPI|protein_coding|CODING|ENST00000569233|exon_15_75182383_75182430 . 0/1:99:251,0,182 . . 15 75182428 . G T NON_SYNONYMOUS_CODING MPI MODERATE|MISSENSE|cGa/cTa|R5L|174|MPI|protein_coding|CODING|ENST00000567132|exon_15_75182383_75182430 . 0/1:99:251,0,182 . . 15 75182428 . G T NON_SYNONYMOUS_CODING MPI MODERATE|MISSENSE|cGa/cTa|R5L|184|MPI|protein_coding|CODING|ENST00000568828|exon_15_75182393_75182430 . 0/1:99:251,0,182 . . 15 75182428 . G T NON_SYNONYMOUS_CODING MPI MODERATE|MISSENSE|cGa/cTa|R5L|264|MPI|protein_coding|CODING|ENST00000565576|exon_15_75182403_75182430 . 0/1:99:251,0,182 . . 15 75182428 . G T NON_SYNONYMOUS_CODING MPI MODERATE|MISSENSE|cGa/cTa|R5L|287|MPI|protein_coding|CODING|ENST00000566377|exon_15_75182380_75182430 . 0/1:99:251,0,182 . . 15 75182428 . G T NON_SYNONYMOUS_CODING MPI MODERATE|MISSENSE|cGa/cTa|R5L|339|MPI|protein_coding|CODING|ENST00000563422|exon_15_75182383_75182430 . 0/1:99:251,0,182 . . 15 75182428 . G T NON_SYNONYMOUS_CODING MPI MODERATE|MISSENSE|cGa/cTa|R5L|362|MPI|protein_coding|CODING|ENST00000323744|exon_15_75182383_75182430 . 0/1:99:251,0,182 . . 15 75182428 . G T NON_SYNONYMOUS_CODING MPI MODERATE|MISSENSE|cGa/cTa|R5L|423|MPI|protein_coding|CODING|ENST00000352410|exon_15_75182348_75182430 . 0/1:99:251,0,182 . . 15 75185670 rs7495739 A G NON_SYNONYMOUS_CODING MPI MODERATE|MISSENSE|Agt/Ggt|S227G|264|MPI|protein_coding|CODING|ENST00000565576|exon_15_75185479_75186127 0/1:99:159,0,255 0/1:99:233,0,255 1/1:99:255,84,0 0/1:99:240,0,251 15 75499543 . T C NON_SYNONYMOUS_CODING C15orf39 MODERATE|MISSENSE|cTc/cCc|L385P|1047|C15orf39|protein_coding|CODING|ENST00000360639|exon_15_75498340_75501165 . . . 0/1:99:155,0,104 15 75499543 . T C NON_SYNONYMOUS_CODING C15orf39 MODERATE|MISSENSE|cTc/cCc|L385P|1047|C15orf39|protein_coding|CODING|ENST00000394987|exon_15_75498340_75501165 . . . 0/1:99:155,0,104 15 75499543 . T C NON_SYNONYMOUS_CODING C15orf39 MODERATE|MISSENSE|cTc/cCc|L385P|938|C15orf39|protein_coding|CODING|ENST00000567617|exon_15_75498390_75501217 . . . 0/1:99:155,0,104 15 75499552 . A G NON_SYNONYMOUS_CODING C15orf39 MODERATE|MISSENSE|tAt/tGt|Y388C|1047|C15orf39|protein_coding|CODING|ENST00000360639|exon_15_75498340_75501165 . . . 0/1:99:163,0,146 15 75499552 . A G NON_SYNONYMOUS_CODING C15orf39 MODERATE|MISSENSE|tAt/tGt|Y388C|1047|C15orf39|protein_coding|CODING|ENST00000394987|exon_15_75498340_75501165 . . . 0/1:99:163,0,146 15 75499552 . A G NON_SYNONYMOUS_CODING C15orf39 MODERATE|MISSENSE|tAt/tGt|Y388C|938|C15orf39|protein_coding|CODING|ENST00000567617|exon_15_75498390_75501217 . . . 0/1:99:163,0,146 15 75648344 . G C NON_SYNONYMOUS_CODING MAN2C1 MODERATE|MISSENSE|gCt/gGt|A1009G|1040|MAN2C1|protein_coding|CODING|ENST00000267978|exon_15_75648133_75648373 . 0/1:99:173,0,219 . . 15 75648344 . G C NON_SYNONYMOUS_CODING MAN2C1 MODERATE|MISSENSE|gCt/gGt|A1026G|1057|MAN2C1|protein_coding|CODING|ENST00000565683|exon_15_75648133_75648373 . 0/1:99:173,0,219 . . 15 75648344 . G C NON_SYNONYMOUS_CODING MAN2C1 MODERATE|MISSENSE|gCt/gGt|A910G|941|MAN2C1|protein_coding|CODING|ENST00000563622|exon_15_75648133_75648373 . 0/1:99:173,0,219 . . 15 75648344 . G C NON_SYNONYMOUS_CODING MAN2C1 MODERATE|MISSENSE|gCt/gGt|A986G|1017|MAN2C1|protein_coding|CODING|ENST00000569482|exon_15_75648133_75648373 . 0/1:99:173,0,219 . . 15 75969335 rs77237106 C T NON_SYNONYMOUS_CODING CSPG4 MODERATE|MISSENSE|cGg/cAg|R1842Q|2322|CSPG4|protein_coding|CODING|ENST00000308508|exon_15_75966663_75969725 . . 1/1:99:255,93,0 . 15 75982577 . C T NON_SYNONYMOUS_CODING CSPG4 MODERATE|MISSENSE|Gtg/Atg|V277M|2322|CSPG4|protein_coding|CODING|ENST00000308508|exon_15_75979617_75983153 . 0/1:99:255,0,164 . . 15 76578762 rs1801591 G A NON_SYNONYMOUS_CODING ETFA MODERATE|MISSENSE|aCa/aTa|T122I|284|ETFA|protein_coding|CODING|ENST00000433983|exon_15_76578712_76578822 0/1:99:255,0,230 . . . 15 76578762 rs1801591 G A NON_SYNONYMOUS_CODING ETFA MODERATE|MISSENSE|aCa/aTa|T171I|288|ETFA|protein_coding|CODING|ENST00000559386|exon_15_76578712_76578822 0/1:99:255,0,230 . . . 15 76578762 rs1801591 G A NON_SYNONYMOUS_CODING ETFA MODERATE|MISSENSE|aCa/aTa|T171I|302|ETFA|protein_coding|CODING|ENST00000560595|exon_15_76578712_76578822 0/1:99:255,0,230 . . . 15 76578762 rs1801591 G A NON_SYNONYMOUS_CODING ETFA MODERATE|MISSENSE|aCa/aTa|T171I|333|ETFA|protein_coding|CODING|ENST00000557943|exon_15_76578712_76578822 0/1:99:255,0,230 . . . 15 76578762 rs1801591 G A NON_SYNONYMOUS_CODING ETFA MODERATE|MISSENSE|aCa/aTa|T67I|229|ETFA|protein_coding|CODING|ENST00000559602|exon_15_76578712_76578822 0/1:99:255,0,230 . . . 15 78317837 rs78162825 C G NON_SYNONYMOUS_CODING TBC1D2B MODERATE|MISSENSE|Gta/Cta|V172L|290|TBC1D2B|protein_coding|CODING|ENST00000435468|exon_15_78317601_78317839 0/1:99:255,0,255 . . . 15 78317837 rs78162825 C G NON_SYNONYMOUS_CODING TBC1D2B MODERATE|MISSENSE|Gta/Cta|V284L|914|TBC1D2B|protein_coding|CODING|ENST00000409931|exon_15_78317601_78317839 0/1:99:255,0,255 . . . 15 78317837 rs78162825 C G NON_SYNONYMOUS_CODING TBC1D2B MODERATE|MISSENSE|Gta/Cta|V284L|963|TBC1D2B|protein_coding|CODING|ENST00000300584|exon_15_78317601_78317839 0/1:99:255,0,255 . . . 15 78337303 rs61732053 C T NON_SYNONYMOUS_CODING TBC1D2B MODERATE|MISSENSE|Gcc/Acc|A208T|914|TBC1D2B|protein_coding|CODING|ENST00000409931|exon_15_78337242_78337410 . . 0/1:99:255,0,240 . 15 78337303 rs61732053 C T NON_SYNONYMOUS_CODING TBC1D2B MODERATE|MISSENSE|Gcc/Acc|A208T|963|TBC1D2B|protein_coding|CODING|ENST00000300584|exon_15_78337242_78337410 . . 0/1:99:255,0,240 . 15 78337303 rs61732053 C T NON_SYNONYMOUS_CODING TBC1D2B MODERATE|MISSENSE|Gcc/Acc|A96T|290|TBC1D2B|protein_coding|CODING|ENST00000435468|exon_15_78337242_78337410 . . 0/1:99:255,0,240 . 15 78880752 rs2229961 G A NON_SYNONYMOUS_CODING CHRNA5 MODERATE|MISSENSE|Gtt/Att|V134I|160|CHRNA5|protein_coding|CODING|ENST00000559554|exon_15_78880656_78880765 . 0/1:99:255,0,255 . . 15 78880752 rs2229961 G A NON_SYNONYMOUS_CODING CHRNA5 MODERATE|MISSENSE|Gtt/Att|V134I|468|CHRNA5|protein_coding|CODING|ENST00000299565|exon_15_78880656_78880765 . 0/1:99:255,0,255 . . 15 79089074 rs61752773 C T NON_SYNONYMOUS_CODING ADAMTS7 MODERATE|MISSENSE|cGg/cAg|R226Q|1686|ADAMTS7|protein_coding|CODING|ENST00000388820|exon_15_79088932_79089128 . . . 0/1:99:199,0,184 15 79089074 rs61752773 C T NON_SYNONYMOUS_CODING ADAMTS7 MODERATE|MISSENSE|cGg/cAg|R226Q|460|ADAMTS7|protein_coding|CODING|ENST00000456326|exon_15_79088932_79089128 . . . 0/1:99:199,0,184 15 79748659 . A T NON_SYNONYMOUS_CODING KIAA1024 MODERATE|MISSENSE|gAt/gTt|D57V|916|KIAA1024|protein_coding|CODING|ENST00000305428|exon_15_79748440_79750787 0/1:99:128,0,237 . . . 15 80215495 rs183370362 C A NON_SYNONYMOUS_CODING C15orf37 MODERATE|MISSENSE|tCc/tAc|S127Y|130|C15orf37|protein_coding|CODING|ENST00000560255|exon_15_80215113_80217194 . 0/1:99:98,0,135 . . 15 80405143 rs116896356 G A NON_SYNONYMOUS_CODING ZFAND6 MODERATE|MISSENSE|cGg/cAg|R29Q|71|ZFAND6|protein_coding|CODING|ENST00000561012|exon_15_80405118_80405196 . . . 0/1:99:255,0,255 15 81625028 rs8031046 C T NON_SYNONYMOUS_CODING TMC3 MODERATE|MISSENSE|aGa/aAa|R1012K|1100|TMC3|protein_coding|CODING|ENST00000359440|exon_15_81624553_81625603 . . 0/1:99:211,0,152 . 15 81625028 rs8031046 C T NON_SYNONYMOUS_CODING TMC3 MODERATE|MISSENSE|aGa/aAa|R1013K|1101|TMC3|protein_coding|CODING|ENST00000558726|exon_15_81623558_81625603 . . 0/1:99:211,0,152 . 15 82337986 . TGCCGCCGCCGCCGCCGCCGC TGCCGCCGCCGCCGCCGCCGCCGC CODON_INSERTION MEX3B MODERATE||-/GCG|-14A|158|MEX3B|protein_coding|CODING|ENST00000558133|exon_15_82334128_82338460 . . 0/1:99:217,0,123 . 15 82337986 . TGCCGCCGCCGCCGCCGCCGC TGCCGCCGCCGCCGCCGCCGCCGC CODON_INSERTION MEX3B MODERATE||-/GCG|-14A|569|MEX3B|protein_coding|CODING|ENST00000329713|exon_15_82337791_82338482 . . 0/1:99:217,0,123 . 15 82512118 rs116871238 G A NON_SYNONYMOUS_CODING EFTUD1 MODERATE|MISSENSE|Ctc/Ttc|L445F|1069|EFTUD1|protein_coding|CODING|ENST00000359445|exon_15_82511993_82512159 0/1:99:249,0,255 . . . 15 82512118 rs116871238 G A NON_SYNONYMOUS_CODING EFTUD1 MODERATE|MISSENSE|Ctc/Ttc|L496F|1120|EFTUD1|protein_coding|CODING|ENST00000268206|exon_15_82511993_82512159 0/1:99:249,0,255 . . . 15 82934936 rs4076899 A C NON_SYNONYMOUS_CODING RP13-996F3.5.1 MODERATE|MISSENSE|cTa/cGa|L215R|522|RP13-996F3.5.1|protein_coding|CODING|ENST00000426571|exon_15_82934902_82935146 . . . 1/1:25:56,14,0 15 82934936 rs4076899 A C NON_SYNONYMOUS_CODING RP13-996F3.5.1 MODERATE|MISSENSE|cTa/cGa|L215R|536|RP13-996F3.5.1|protein_coding|CODING|ENST00000559949|exon_15_82934266_82935146 . . . 1/1:25:56,14,0 15 83296073 rs61733713 C T NON_SYNONYMOUS_CODING CPEB1 MODERATE|MISSENSE|Gca/Aca|A21T|561|CPEB1|protein_coding|CODING|ENST00000398593|exon_15_83295944_83296118 0/1:99:255,0,255 . . 0/1:99:255,0,255 15 83296073 rs61733713 C T NON_SYNONYMOUS_CODING CPEB1 MODERATE|MISSENSE|Gca/Aca|A21T|561|CPEB1|protein_coding|CODING|ENST00000568128|exon_15_83295944_83296118 0/1:99:255,0,255 . . 0/1:99:255,0,255 15 83296073 rs61733713 C T NON_SYNONYMOUS_CODING CPEB1 MODERATE|MISSENSE|Gca/Aca|A21T|566|CPEB1|protein_coding|CODING|ENST00000562019|exon_15_83295944_83296118 0/1:99:255,0,255 . . 0/1:99:255,0,255 15 83296073 rs61733713 C T NON_SYNONYMOUS_CODING CPEB1 MODERATE|MISSENSE|Gca/Aca|A48T|588|CPEB1|protein_coding|CODING|ENST00000563800|exon_15_83295944_83296118 0/1:99:255,0,255 . . 0/1:99:255,0,255 15 83735839 rs113504890 G A NON_SYNONYMOUS_CODING BTBD1 MODERATE|MISSENSE|cCc/cTc|P22L|385|BTBD1|protein_coding|CODING|ENST00000379403|exon_15_83735503_83735903 . . 0/1:99:111,0,200 . 15 83735839 rs113504890 G A NON_SYNONYMOUS_CODING BTBD1 MODERATE|MISSENSE|cCc/cTc|P22L|482|BTBD1|protein_coding|CODING|ENST00000261721|exon_15_83735503_83736106 . . 0/1:99:111,0,200 . 15 84506964 rs112527144 A G NON_SYNONYMOUS_CODING ADAMTSL3 MODERATE|MISSENSE|Aaa/Gaa|K242E|1682|ADAMTSL3|protein_coding|CODING|ENST00000567476|exon_15_84506841_84506967 . . 0/1:99:255,0,193 . 15 84506964 rs112527144 A G NON_SYNONYMOUS_CODING ADAMTSL3 MODERATE|MISSENSE|Aaa/Gaa|K242E|1691|ADAMTSL3|protein_coding|CODING|ENST00000286744|exon_15_84506841_84506967 . . 0/1:99:255,0,193 . 15 84611367 rs34047645 G C NON_SYNONYMOUS_CODING ADAMTSL3 MODERATE|MISSENSE|Ggg/Cgg|G713R|1682|ADAMTSL3|protein_coding|CODING|ENST00000567476|exon_15_84611348_84611540 . 0/1:99:255,0,255 . . 15 84611367 rs34047645 G C NON_SYNONYMOUS_CODING ADAMTSL3 MODERATE|MISSENSE|Ggg/Cgg|G713R|1691|ADAMTSL3|protein_coding|CODING|ENST00000286744|exon_15_84611348_84611540 . 0/1:99:255,0,255 . . 15 84611805 rs61752778 C T NON_SYNONYMOUS_CODING ADAMTSL3 MODERATE|MISSENSE|Cca/Tca|P821S|1682|ADAMTSL3|protein_coding|CODING|ENST00000567476|exon_15_84611655_84611834 . . . 0/1:99:255,0,255 15 84611805 rs61752778 C T NON_SYNONYMOUS_CODING ADAMTSL3 MODERATE|MISSENSE|Cca/Tca|P821S|1691|ADAMTSL3|protein_coding|CODING|ENST00000286744|exon_15_84611655_84611834 . . . 0/1:99:255,0,255 15 84639350 rs2277849 C T NON_SYNONYMOUS_CODING ADAMTSL3 MODERATE|MISSENSE|Ctc/Ttc|L869F|1682|ADAMTSL3|protein_coding|CODING|ENST00000567476|exon_15_84639236_84639389 0/1:99:185,0,255 0/1:99:232,0,211 0/1:99:255,0,213 . 15 84639350 rs2277849 C T NON_SYNONYMOUS_CODING ADAMTSL3 MODERATE|MISSENSE|Ctc/Ttc|L869F|1691|ADAMTSL3|protein_coding|CODING|ENST00000286744|exon_15_84639236_84639389 0/1:99:185,0,255 0/1:99:232,0,211 0/1:99:255,0,213 . 15 84651057 rs140206840 G A NON_SYNONYMOUS_CODING ADAMTSL3 MODERATE|MISSENSE|Gag/Aag|E893K|1682|ADAMTSL3|protein_coding|CODING|ENST00000567476|exon_15_84651025_84652096 . 0/1:99:255,0,232 . . 15 84651057 rs140206840 G A NON_SYNONYMOUS_CODING ADAMTSL3 MODERATE|MISSENSE|Gag/Aag|E893K|1691|ADAMTSL3|protein_coding|CODING|ENST00000286744|exon_15_84651025_84652096 . 0/1:99:255,0,232 . . 15 84651394 . G A NON_SYNONYMOUS_CODING ADAMTSL3 MODERATE|MISSENSE|cGc/cAc|R1005H|1682|ADAMTSL3|protein_coding|CODING|ENST00000567476|exon_15_84651025_84652096 0/1:99:200,0,255 . . . 15 84651394 . G A NON_SYNONYMOUS_CODING ADAMTSL3 MODERATE|MISSENSE|cGc/cAc|R1005H|1691|ADAMTSL3|protein_coding|CODING|ENST00000286744|exon_15_84651025_84652096 0/1:99:200,0,255 . . . 15 84700108 rs35633782 C T NON_SYNONYMOUS_CODING ADAMTSL3 MODERATE|MISSENSE|Cgt/Tgt|R1560C|1682|ADAMTSL3|protein_coding|CODING|ENST00000567476|exon_15_84700087_84700184 . . . 0/1:99:187,0,241 15 84700108 rs35633782 C T NON_SYNONYMOUS_CODING ADAMTSL3 MODERATE|MISSENSE|Cgt/Tgt|R1560C|1691|ADAMTSL3|protein_coding|CODING|ENST00000286744|exon_15_84700087_84700184 . . . 0/1:99:187,0,241 15 85188839 rs11073619 C T NON_SYNONYMOUS_CODING WDR73 MODERATE|MISSENSE|cGt/cAt|R249H|378|WDR73|protein_coding|CODING|ENST00000434634|exon_15_85188702_85189067 . . . 0/1:99:125,0,215 15 85383709 rs55702300 A G NON_SYNONYMOUS_CODING ALPK3 MODERATE|MISSENSE|cAg/cGg|Q602R|1907|ALPK3|protein_coding|CODING|ENST00000258888|exon_15_85382933_85384163 . 0/1:99:228,0,255 . . 15 85384032 rs114207635 T G NON_SYNONYMOUS_CODING ALPK3 MODERATE|MISSENSE|Tgc/Ggc|C710G|1907|ALPK3|protein_coding|CODING|ENST00000258888|exon_15_85382933_85384163 . . 0/1:99:254,0,232 . 15 85448875 rs8187758 C A NON_SYNONYMOUS_CODING SLC28A1 MODERATE|MISSENSE|Cag/Aag|Q159K|287|SLC28A1|protein_coding|CODING|ENST00000537703|exon_15_85448770_85448883 . 0/1:99:203,0,189 . 0/1:92:195,0,89 15 85448875 rs8187758 C A NON_SYNONYMOUS_CODING SLC28A1 MODERATE|MISSENSE|Cag/Aag|Q237K|483|SLC28A1|protein_coding|CODING|ENST00000538177|exon_15_85448770_85448883 . 0/1:99:203,0,189 . 0/1:92:195,0,89 15 85448875 rs8187758 C A NON_SYNONYMOUS_CODING SLC28A1 MODERATE|MISSENSE|Cag/Aag|Q237K|543|SLC28A1|protein_coding|CODING|ENST00000537216|exon_15_85448770_85448883 . 0/1:99:203,0,189 . 0/1:92:195,0,89 15 85448875 rs8187758 C A NON_SYNONYMOUS_CODING SLC28A1 MODERATE|MISSENSE|Cag/Aag|Q237K|636|SLC28A1|protein_coding|CODING|ENST00000537624|exon_15_85448770_85448883 . 0/1:99:203,0,189 . 0/1:92:195,0,89 15 85448875 rs8187758 C A NON_SYNONYMOUS_CODING SLC28A1 MODERATE|MISSENSE|Cag/Aag|Q237K|649|SLC28A1|protein_coding|CODING|ENST00000286749|exon_15_85448770_85448883 . 0/1:99:203,0,189 . 0/1:92:195,0,89 15 85448875 rs8187758 C A NON_SYNONYMOUS_CODING SLC28A1 MODERATE|MISSENSE|Cag/Aag|Q237K|649|SLC28A1|protein_coding|CODING|ENST00000394573|exon_15_85448770_85448883 . 0/1:99:203,0,189 . 0/1:92:195,0,89 15 86807843 rs11857527 T C NON_SYNONYMOUS_CODING AGBL1 MODERATE|MISSENSE|Tcc/Ccc|S166P|793|AGBL1|protein_coding|CODING|ENST00000389298|exon_15_86807489_86808069 . . . 0/1:99:255,0,255 15 86807843 rs11857527 T C NON_SYNONYMOUS_CODING AGBL1 MODERATE|MISSENSE|Tcc/Ccc|S435P|1062|AGBL1|protein_coding|CODING|ENST00000421325|exon_15_86807489_86808069 . . . 0/1:99:255,0,255 15 86807843 rs11857527 T C NON_SYNONYMOUS_CODING AGBL1 MODERATE|MISSENSE|Tcc/Ccc|S435P|1066|AGBL1|protein_coding|CODING|ENST00000441037|exon_15_86807489_86808069 . . . 0/1:99:255,0,255 15 87531283 rs114992033 A G NON_SYNONYMOUS_CODING AGBL1 MODERATE|MISSENSE|aAc/aGc|N1050S|1062|AGBL1|protein_coding|CODING|ENST00000421325|exon_15_87531218_87531323 . . 0/1:99:255,0,213 . 15 87531283 rs114992033 A G NON_SYNONYMOUS_CODING AGBL1 MODERATE|MISSENSE|aAc/aGc|N1050S|1066|AGBL1|protein_coding|CODING|ENST00000441037|exon_15_87531218_87531319 . . 0/1:99:255,0,213 . 15 87531283 rs114992033 A G NON_SYNONYMOUS_CODING AGBL1 MODERATE|MISSENSE|aAc/aGc|N781S|793|AGBL1|protein_coding|CODING|ENST00000389298|exon_15_87531218_87531323 . . 0/1:99:255,0,213 . 15 89002870 rs77140264 C T NON_SYNONYMOUS_CODING MRPL46.1 MODERATE|MISSENSE|Gtt/Att|V272I|279|MRPL46.1|protein_coding|CODING|ENST00000312475|exon_15_89002707_89003094 0/1:99:169,0,255 . . . 15 89169703 rs8026929 C G NON_SYNONYMOUS_CODING AEN MODERATE|MISSENSE|tCt/tGt|S88C|178|AEN|protein_coding|CODING|ENST00000559528|exon_15_89169377_89169977 . 0/1:99:145,0,236 . . 15 89169703 rs8026929 C G NON_SYNONYMOUS_CODING AEN MODERATE|MISSENSE|tCt/tGt|S88C|325|AEN|protein_coding|CODING|ENST00000332810|exon_15_89169377_89169980 . 0/1:99:145,0,236 . . 15 89169703 rs8026929 C G NON_SYNONYMOUS_CODING AEN MODERATE|MISSENSE|tCt/tGt|S88C|327|AEN|protein_coding|CODING|ENST00000379231|exon_15_89169377_89169980 . 0/1:99:145,0,236 . . 15 89169703 rs8026929 C G NON_SYNONYMOUS_CODING AEN MODERATE|MISSENSE|tCt/tGt|S88C|327|AEN|protein_coding|CODING|ENST00000562177|exon_15_89169381_89169980 . 0/1:99:145,0,236 . . 15 89398407 rs3743398 C T NON_SYNONYMOUS_CODING ACAN MODERATE|MISSENSE|cCt/cTt|P864L|2416|ACAN|protein_coding|CODING|ENST00000268134|exon_15_89398083_89399037 0/1:99:255,0,230 0/1:99:255,0,241 0/1:99:225,0,255 . 15 89398407 rs3743398 C T NON_SYNONYMOUS_CODING ACAN MODERATE|MISSENSE|cCt/cTt|P864L|2431|ACAN|protein_coding|CODING|ENST00000352105|exon_15_89398083_89402648 0/1:99:255,0,230 0/1:99:255,0,241 0/1:99:225,0,255 . 15 89398407 rs3743398 C T NON_SYNONYMOUS_CODING ACAN MODERATE|MISSENSE|cCt/cTt|P864L|2492|ACAN|protein_coding|CODING|ENST00000559004|exon_15_89398083_89402648 0/1:99:255,0,230 0/1:99:255,0,241 0/1:99:225,0,255 . 15 89398407 rs3743398 C T NON_SYNONYMOUS_CODING ACAN MODERATE|MISSENSE|cCt/cTt|P864L|2530|ACAN|protein_coding|CODING|ENST00000439576|exon_15_89398083_89402648 0/1:99:255,0,230 0/1:99:255,0,241 0/1:99:225,0,255 . 15 89398407 rs3743398 C T NON_SYNONYMOUS_CODING ACAN MODERATE|MISSENSE|cCt/cTt|P864L|2530|ACAN|protein_coding|CODING|ENST00000561243|exon_15_89398083_89402648 0/1:99:255,0,230 0/1:99:255,0,241 0/1:99:225,0,255 . 15 89415247 rs3817428 C G NON_SYNONYMOUS_CODING ACAN MODERATE|MISSENSE|gaC/gaG|D2259E|2416|ACAN|protein_coding|CODING|ENST00000268134|exon_15_89415234_89415316 . 0/1:99:255,0,198 0/1:99:223,0,217 . 15 89415247 rs3817428 C G NON_SYNONYMOUS_CODING ACAN MODERATE|MISSENSE|gaC/gaG|D2335E|2431|ACAN|protein_coding|CODING|ENST00000352105|exon_15_89415234_89415316 . 0/1:99:255,0,198 0/1:99:223,0,217 . 15 89415247 rs3817428 C G NON_SYNONYMOUS_CODING ACAN MODERATE|MISSENSE|gaC/gaG|D2335E|2492|ACAN|protein_coding|CODING|ENST00000559004|exon_15_89415234_89415316 . 0/1:99:255,0,198 0/1:99:223,0,217 . 15 89415247 rs3817428 C G NON_SYNONYMOUS_CODING ACAN MODERATE|MISSENSE|gaC/gaG|D2373E|2530|ACAN|protein_coding|CODING|ENST00000439576|exon_15_89415234_89415316 . 0/1:99:255,0,198 0/1:99:223,0,217 . 15 89415247 rs3817428 C G NON_SYNONYMOUS_CODING ACAN MODERATE|MISSENSE|gaC/gaG|D2373E|2530|ACAN|protein_coding|CODING|ENST00000561243|exon_15_89415234_89415316 . 0/1:99:255,0,198 0/1:99:223,0,217 . 15 89430544 rs62620238 G A NON_SYNONYMOUS_CODING HAPLN3 MODERATE|MISSENSE|Ccc/Tcc|P58S|422|HAPLN3|protein_coding|CODING|ENST00000562889|exon_15_89430406_89430576 0/1:99:255,0,98 . . . 15 89859994 rs3087374 C A NON_SYNONYMOUS_CODING POLG MODERATE|MISSENSE|caG/caT|Q1236H|1239|POLG|protein_coding|CODING|ENST00000268124|exon_15_89859534_89860058 . 0/1:99:255,0,247 . 0/1:99:209,0,167 15 89859994 rs3087374 C A NON_SYNONYMOUS_CODING POLG MODERATE|MISSENSE|caG/caT|Q1236H|1239|POLG|protein_coding|CODING|ENST00000442287|exon_15_89859551_89860058 . 0/1:99:255,0,247 . 0/1:99:209,0,167 15 90294315 . T TCGGCACGGGGCC CODON_CHANGE_PLUS_CODON_INSERTION MESP1 MODERATE||gac/gaGGCCCCGTGCCGc|D49EAPCR|268|MESP1|protein_coding|CODING|ENST00000300057|exon_15_90293740_90294541 . 0/1:81:83,0,79 . . 15 90764292 . G A NON_SYNONYMOUS_CODING SEMA4B MODERATE|MISSENSE|Gac/Aac|D183N|737|SEMA4B|protein_coding|CODING|ENST00000379122|exon_15_90764214_90764325 . . . 0/1:99:237,0,142 15 90764292 . G A NON_SYNONYMOUS_CODING SEMA4B MODERATE|MISSENSE|Gac/Aac|D188N|837|SEMA4B|protein_coding|CODING|ENST00000332496|exon_15_90764214_90764325 . . . 0/1:99:237,0,142 15 90764292 . G A NON_SYNONYMOUS_CODING SEMA4B MODERATE|MISSENSE|Gac/Aac|D188N|837|SEMA4B|protein_coding|CODING|ENST00000411539|exon_15_90764214_90764325 . . . 0/1:99:237,0,142 15 90818641 rs56294733 G C NON_SYNONYMOUS_CODING AC091167.2 MODERATE|MISSENSE|tGt/tCt|C94S|196|AC091167.2|protein_coding|CODING|ENST00000411845|exon_15_90818266_90820841 . . . 0/1:99:240,0,191 15 90903502 rs11854320 G A NON_SYNONYMOUS_CODING ZNF774 MODERATE|MISSENSE|Gta/Ata|V147I|483|ZNF774|protein_coding|CODING|ENST00000354377|exon_15_90903275_90906079 . . 0/1:99:248,0,255 0/1:71:68,0,255 15 91030797 rs138399745 C T NON_SYNONYMOUS_CODING IQGAP1 MODERATE|MISSENSE|Cca/Tca|P1411S|1657|IQGAP1|protein_coding|CODING|ENST00000268182|exon_15_91030727_91030814 . . 0/1:99:255,0,246 . 15 91030797 rs138399745 C T NON_SYNONYMOUS_CODING IQGAP1 MODERATE|MISSENSE|Cca/Tca|P839S|1085|IQGAP1|protein_coding|CODING|ENST00000560738|exon_15_91030727_91030814 . . 0/1:99:255,0,246 . 15 93015721 rs77687316 A G NON_SYNONYMOUS_CODING C15orf32 MODERATE|MISSENSE|Att/Gtt|I115V|165|C15orf32|protein_coding|CODING|ENST00000556865|exon_15_93015151_93015752 0/1:99:255,0,243 . . . 15 93015721 rs77687316 A G NON_SYNONYMOUS_CODING C15orf32 MODERATE|MISSENSE|Att/Gtt|I115V|178|C15orf32|protein_coding|CODING|ENST00000333334|exon_15_93014884_93015752 0/1:99:255,0,243 . . . 15 93485185 . G A NON_SYNONYMOUS_CODING CHD2 MODERATE|MISSENSE|Gcc/Acc|A276T|1739|CHD2|protein_coding|CODING|ENST00000557381|exon_15_93485052_93485185 . . . 0/1:99:255,0,255 15 93485185 . G A NON_SYNONYMOUS_CODING CHD2 MODERATE|MISSENSE|Gcc/Acc|A276T|1828|CHD2|protein_coding|CODING|ENST00000394196|exon_15_93485052_93485185 . . . 0/1:99:255,0,255 15 93485185 . G A NON_SYNONYMOUS_CODING CHD2 MODERATE|MISSENSE|Gcc/Acc|A276T|501|CHD2|protein_coding|CODING|ENST00000420239|exon_15_93485052_93485185 . . . 0/1:99:255,0,255 15 93485185 . G A NON_SYNONYMOUS_CODING CHD2 MODERATE|MISSENSE|Gcc/Acc|A289T|514|CHD2|protein_coding|CODING|ENST00000536619|exon_15_93485052_93485185 . . . 0/1:99:255,0,255 15 93588284 rs2272452 G A NON_SYNONYMOUS_CODING RGMA MODERATE|MISSENSE|Cgg/Tgg|R324W|341|RGMA|protein_coding|CODING|ENST00000538818|exon_15_93586647_93588935 0/1:99:173,0,137 . . . 15 93588284 rs2272452 G A NON_SYNONYMOUS_CODING RGMA MODERATE|MISSENSE|Cgg/Tgg|R324W|341|RGMA|protein_coding|CODING|ENST00000556658|exon_15_93588186_93588935 0/1:99:173,0,137 . . . 15 93588284 rs2272452 G A NON_SYNONYMOUS_CODING RGMA MODERATE|MISSENSE|Cgg/Tgg|R417W|434|RGMA|protein_coding|CODING|ENST00000425933|exon_15_93586636_93588935 0/1:99:173,0,137 . . . 15 93588284 rs2272452 G A NON_SYNONYMOUS_CODING RGMA MODERATE|MISSENSE|Cgg/Tgg|R417W|434|RGMA|protein_coding|CODING|ENST00000542321|exon_15_93586646_93588935 0/1:99:173,0,137 . . . 15 93588284 rs2272452 G A NON_SYNONYMOUS_CODING RGMA MODERATE|MISSENSE|Cgg/Tgg|R417W|434|RGMA|protein_coding|CODING|ENST00000543599|exon_15_93586636_93588935 0/1:99:173,0,137 . . . 15 93588284 rs2272452 G A NON_SYNONYMOUS_CODING RGMA MODERATE|MISSENSE|Cgg/Tgg|R433W|450|RGMA|protein_coding|CODING|ENST00000329082|exon_15_93586637_93588935 0/1:99:173,0,137 . . . 15 93588284 rs2272452 G A NON_SYNONYMOUS_CODING RGMA MODERATE|MISSENSE|Cgg/Tgg|R441W|458|RGMA|protein_coding|CODING|ENST00000557301|exon_15_93588048_93588935 0/1:99:173,0,137 . . . 15 99544418 rs149174294 C T NON_SYNONYMOUS_CODING PGPEP1L MODERATE|MISSENSE|Gtg/Atg|V7M|196|PGPEP1L|protein_coding|CODING|ENST00000378919|exon_15_99544416_99544508 0/1:99:255,0,255 . . . 15 99646201 rs140039713 C T NON_SYNONYMOUS_CODING SYNM MODERATE|MISSENSE|gCc/gTc|A265V|1252|SYNM|protein_coding|CODING|ENST00000328642|exon_15_99646110_99646214 . . . 0/1:99:129,0,164 15 99646201 rs140039713 C T NON_SYNONYMOUS_CODING SYNM MODERATE|MISSENSE|gCc/gTc|A265V|1564|SYNM|protein_coding|CODING|ENST00000336292|exon_15_99646110_99646214 . . . 0/1:99:129,0,164 15 100269635 rs72760587 G C NON_SYNONYMOUS_CODING LYSMD4 MODERATE|MISSENSE|aCc/aGc|T195S|296|LYSMD4|protein_coding|CODING|ENST00000332728|exon_15_100267614_100269936 0/1:99:249,0,252 . . 0/1:99:219,0,185 15 100269635 rs72760587 G C NON_SYNONYMOUS_CODING LYSMD4 MODERATE|MISSENSE|aCc/aGc|T195S|296|LYSMD4|protein_coding|CODING|ENST00000409796|exon_15_100267610_100269936 0/1:99:249,0,252 . . 0/1:99:219,0,185 15 100269635 rs72760587 G C NON_SYNONYMOUS_CODING LYSMD4 MODERATE|MISSENSE|aCc/aGc|T196S|297|LYSMD4|protein_coding|CODING|ENST00000344791|exon_15_100267610_100269936 0/1:99:249,0,252 . . 0/1:99:219,0,185 15 100269635 rs72760587 G C NON_SYNONYMOUS_CODING LYSMD4 MODERATE|MISSENSE|aCc/aGc|T69S|170|LYSMD4|protein_coding|CODING|ENST00000545021|exon_15_100267614_100269936 0/1:99:249,0,252 . . 0/1:99:219,0,185 15 100269737 rs8041078 G A NON_SYNONYMOUS_CODING LYSMD4 MODERATE|MISSENSE|gCc/gTc|A161V|296|LYSMD4|protein_coding|CODING|ENST00000332728|exon_15_100267614_100269936 0/1:99:148,0,213 . . 0/1:99:204,0,219 15 100269737 rs8041078 G A NON_SYNONYMOUS_CODING LYSMD4 MODERATE|MISSENSE|gCc/gTc|A161V|296|LYSMD4|protein_coding|CODING|ENST00000409796|exon_15_100267610_100269936 0/1:99:148,0,213 . . 0/1:99:204,0,219 15 100269737 rs8041078 G A NON_SYNONYMOUS_CODING LYSMD4 MODERATE|MISSENSE|gCc/gTc|A162V|297|LYSMD4|protein_coding|CODING|ENST00000344791|exon_15_100267610_100269936 0/1:99:148,0,213 . . 0/1:99:204,0,219 15 100269737 rs8041078 G A NON_SYNONYMOUS_CODING LYSMD4 MODERATE|MISSENSE|gCc/gTc|A35V|170|LYSMD4|protein_coding|CODING|ENST00000545021|exon_15_100267614_100269936 0/1:99:148,0,213 . . 0/1:99:204,0,219 15 100269749 rs8041089 G A NON_SYNONYMOUS_CODING LYSMD4 MODERATE|MISSENSE|gCg/gTg|A157V|296|LYSMD4|protein_coding|CODING|ENST00000332728|exon_15_100267614_100269936 0/1:99:168,0,218 . . 0/1:99:204,0,198 15 100269749 rs8041089 G A NON_SYNONYMOUS_CODING LYSMD4 MODERATE|MISSENSE|gCg/gTg|A157V|296|LYSMD4|protein_coding|CODING|ENST00000409796|exon_15_100267610_100269936 0/1:99:168,0,218 . . 0/1:99:204,0,198 15 100269749 rs8041089 G A NON_SYNONYMOUS_CODING LYSMD4 MODERATE|MISSENSE|gCg/gTg|A158V|297|LYSMD4|protein_coding|CODING|ENST00000344791|exon_15_100267610_100269936 0/1:99:168,0,218 . . 0/1:99:204,0,198 15 100269749 rs8041089 G A NON_SYNONYMOUS_CODING LYSMD4 MODERATE|MISSENSE|gCg/gTg|A31V|170|LYSMD4|protein_coding|CODING|ENST00000545021|exon_15_100267614_100269936 0/1:99:168,0,218 . . 0/1:99:204,0,198 15 100692953 rs72755233 G A NON_SYNONYMOUS_CODING ADAMTS17 MODERATE|MISSENSE|aCc/aTc|T446I|1095|ADAMTS17|protein_coding|CODING|ENST00000268070|exon_15_100692817_100692967 . . 0/1:99:241,0,255 . 15 101041921 rs60405735 T C NON_SYNONYMOUS_CODING CERS3 MODERATE|MISSENSE|tAt/tGt|Y45C|110|CERS3|protein_coding|CODING|ENST00000560233|exon_15_101041882_101042055 0/1:99:194,0,255 . . 0/1:99:255,0,209 15 101041921 rs60405735 T C NON_SYNONYMOUS_CODING CERS3 MODERATE|MISSENSE|tAt/tGt|Y45C|161|CERS3|protein_coding|CODING|ENST00000558884|exon_15_101041882_101042055 0/1:99:194,0,255 . . 0/1:99:255,0,209 15 101041921 rs60405735 T C NON_SYNONYMOUS_CODING CERS3 MODERATE|MISSENSE|tAt/tGt|Y45C|383|CERS3|protein_coding|CODING|ENST00000284382|exon_15_101041882_101042055 0/1:99:194,0,255 . . 0/1:99:255,0,209 15 101041921 rs60405735 T C NON_SYNONYMOUS_CODING CERS3 MODERATE|MISSENSE|tAt/tGt|Y45C|383|CERS3|protein_coding|CODING|ENST00000394113|exon_15_101041882_101042055 0/1:99:194,0,255 . . 0/1:99:255,0,209 15 101041921 rs60405735 T C NON_SYNONYMOUS_CODING CERS3 MODERATE|MISSENSE|tAt/tGt|Y45C|383|CERS3|protein_coding|CODING|ENST00000538112|exon_15_101041882_101042055 0/1:99:194,0,255 . . 0/1:99:255,0,209 15 101717888 rs62621399 C T NON_SYNONYMOUS_CODING CHSY1 MODERATE|MISSENSE|cGa/cAa|R705Q|802|CHSY1|protein_coding|CODING|ENST00000254190|exon_15_101715928_101719185 . . . 0/1:99:255,0,248 15 102359203 rs79724132 G A NON_SYNONYMOUS_CODING OR4F15 MODERATE|MISSENSE|Gct/Act|A272T|312|OR4F15|protein_coding|CODING|ENST00000332238|exon_15_102358366_102359350 . . 0/1:99:255,0,255 . 16 67415 rs140898393 C A NON_SYNONYMOUS_CODING WASH4P MODERATE|MISSENSE|Gac/Tac|D154Y|477|WASH4P|protein_coding|CODING|ENST00000326592|exon_16_67291_67427 . 0/1:21:64,0,18 . . 16 318822 rs114887633 G T NON_SYNONYMOUS_CODING ITFG3 MODERATE|MISSENSE|Gcg/Tcg|A499S|531|ITFG3|protein_coding|CODING|ENST00000442458|exon_16_318775_319004 . 0/1:99:241,0,180 . . 16 319511 rs739999 A G NON_SYNONYMOUS_CODING RGS11 MODERATE|MISSENSE|aTg/aCg|M406T|446|RGS11|protein_coding|CODING|ENST00000316163|exon_16_319502_319584 1/1:99:255,63,0 . . . 16 319511 rs739999 A G NON_SYNONYMOUS_CODING RGS11 MODERATE|MISSENSE|aTg/aCg|M416T|456|RGS11|protein_coding|CODING|ENST00000359740|exon_16_319502_319584 1/1:99:255,63,0 . . . 16 319511 rs739999 A G NON_SYNONYMOUS_CODING RGS11 MODERATE|MISSENSE|aTg/aCg|M427T|467|RGS11|protein_coding|CODING|ENST00000397770|exon_16_319502_319584 1/1:99:255,63,0 . . . 16 320759 rs9806942 C T NON_SYNONYMOUS_CODING RGS11 MODERATE|MISSENSE|Gtg/Atg|V330M|446|RGS11|protein_coding|CODING|ENST00000316163|exon_16_320743_320830 1/1:99:255,51,0 . . . 16 320759 rs9806942 C T NON_SYNONYMOUS_CODING RGS11 MODERATE|MISSENSE|Gtg/Atg|V340M|456|RGS11|protein_coding|CODING|ENST00000359740|exon_16_320743_320830 1/1:99:255,51,0 . . . 16 320759 rs9806942 C T NON_SYNONYMOUS_CODING RGS11 MODERATE|MISSENSE|Gtg/Atg|V351M|467|RGS11|protein_coding|CODING|ENST00000397770|exon_16_320743_320830 1/1:99:255,51,0 . . . 16 336377 rs45529833 C G NON_SYNONYMOUS_CODING PDIA2 MODERATE|MISSENSE|Ccc/Gcc|P11A|154|PDIA2|protein_coding|CODING|ENST00000435833|exon_16_336371_336473 0/1:99:119,0,146 . . . 16 336377 rs45529833 C G NON_SYNONYMOUS_CODING PDIA2 MODERATE|MISSENSE|Ccc/Gcc|P351A|494|PDIA2|protein_coding|CODING|ENST00000455994|exon_16_336353_336473 0/1:99:119,0,146 . . . 16 336377 rs45529833 C G NON_SYNONYMOUS_CODING PDIA2 MODERATE|MISSENSE|Ccc/Gcc|P379A|522|PDIA2|protein_coding|CODING|ENST00000404312|exon_16_336353_336473 0/1:99:119,0,146 . . . 16 336377 rs45529833 C G NON_SYNONYMOUS_CODING PDIA2 MODERATE|MISSENSE|Ccc/Gcc|P382A|525|PDIA2|protein_coding|CODING|ENST00000219406|exon_16_336353_336473 0/1:99:119,0,146 . . . 16 417757 rs13226 T C NON_SYNONYMOUS_CODING MRPL28 MODERATE|MISSENSE|tAt/tGt|Y230C|239|MRPL28|protein_coding|CODING|ENST00000441883|exon_16_417724_417782 0/1:99:205,0,198 . . . 16 417757 rs13226 T C NON_SYNONYMOUS_CODING MRPL28 MODERATE|MISSENSE|tAt/tGt|Y230C|256|MRPL28|protein_coding|CODING|ENST00000199706|exon_16_417396_417782 0/1:99:205,0,198 . . . 16 417757 rs13226 T C NON_SYNONYMOUS_CODING MRPL28 MODERATE|MISSENSE|tAt/tGt|Y230C|256|MRPL28|protein_coding|CODING|ENST00000389675|exon_16_417613_417782 0/1:99:205,0,198 . . . 16 417757 rs13226 T C NON_SYNONYMOUS_CODING MRPL28 MODERATE|MISSENSE|tAt/tGt|Y230C|256|MRPL28|protein_coding|CODING|ENST00000397734|exon_16_417409_417782 0/1:99:205,0,198 . . . 16 417757 rs13226 T C NON_SYNONYMOUS_CODING MRPL28 MODERATE|MISSENSE|tAt/tGt|Y230C|256|MRPL28|protein_coding|CODING|ENST00000397735|exon_16_416927_417782 0/1:99:205,0,198 . . . 16 814942 rs34695957 G A NON_SYNONYMOUS_CODING MSLN MODERATE|MISSENSE|cGt/cAt|R139H|170|MSLN|protein_coding|CODING|ENST00000569566|exon_16_814907_815036 . . 0/1:76:225,0,73 . 16 814942 rs34695957 G A NON_SYNONYMOUS_CODING MSLN MODERATE|MISSENSE|cGt/cAt|R139H|331|MSLN|protein_coding|CODING|ENST00000563651|exon_16_814907_815036 . . 0/1:76:225,0,73 . 16 814942 rs34695957 G A NON_SYNONYMOUS_CODING MSLN MODERATE|MISSENSE|cGt/cAt|R139H|612|MSLN|protein_coding|CODING|ENST00000566269|exon_16_814907_815036 . . 0/1:76:225,0,73 . 16 814942 rs34695957 G A NON_SYNONYMOUS_CODING MSLN MODERATE|MISSENSE|cGt/cAt|R139H|622|MSLN|protein_coding|CODING|ENST00000445361|exon_16_814907_815036 . . 0/1:76:225,0,73 . 16 814942 rs34695957 G A NON_SYNONYMOUS_CODING MSLN MODERATE|MISSENSE|cGt/cAt|R139H|622|MSLN|protein_coding|CODING|ENST00000545450|exon_16_814907_815036 . . 0/1:76:225,0,73 . 16 814942 rs34695957 G A NON_SYNONYMOUS_CODING MSLN MODERATE|MISSENSE|cGt/cAt|R139H|622|MSLN|protein_coding|CODING|ENST00000563941|exon_16_814907_815036 . . 0/1:76:225,0,73 . 16 814942 rs34695957 G A NON_SYNONYMOUS_CODING MSLN MODERATE|MISSENSE|cGt/cAt|R139H|622|MSLN|protein_coding|CODING|ENST00000566549|exon_16_814907_815036 . . 0/1:76:225,0,73 . 16 814942 rs34695957 G A NON_SYNONYMOUS_CODING MSLN MODERATE|MISSENSE|cGt/cAt|R139H|630|MSLN|protein_coding|CODING|ENST00000382862|exon_16_814907_815036 . . 0/1:76:225,0,73 . 16 814942 rs34695957 G A NON_SYNONYMOUS_CODING MSLN MODERATE|MISSENSE|cGt/cAt|R139H|630|MSLN|protein_coding|CODING|ENST00000446427|exon_16_814907_815036 . . 0/1:76:225,0,73 . 16 818643 rs58800379 T C NON_SYNONYMOUS_CODING MSLN MODERATE|MISSENSE|Tgt/Cgt|C325R|397|MSLN|protein_coding|CODING|ENST00000561896|exon_16_818379_818865 . . 0/1:99:255,0,210 . 16 819441 rs74001006 G C NON_SYNONYMOUS_CODING MSLNL MODERATE|MISSENSE|aCg/aGg|T1050R|1053|MSLNL|protein_coding|CODING|ENST00000293892|exon_16_819428_819633 . . 0/1:64:119,0,61 . 16 819441 rs74001006 G C NON_SYNONYMOUS_CODING MSLNL MODERATE|MISSENSE|aCg/aGg|T699R|702|MSLNL|protein_coding|CODING|ENST00000442466|exon_16_819428_819633 . . 0/1:64:119,0,61 . 16 819441 rs74001006 G C NON_SYNONYMOUS_CODING MSLNL MODERATE|MISSENSE|aCg/aGg|T749R|752|MSLNL|protein_coding|CODING|ENST00000543963|exon_16_819428_819633 . . 0/1:64:119,0,61 . 16 820215 rs74656628 T A NON_SYNONYMOUS_CODING MSLNL MODERATE|MISSENSE|Acc/Tcc|T573S|702|MSLNL|protein_coding|CODING|ENST00000442466|exon_16_820029_820290 . . 0/1:99:163,0,96 . 16 820215 rs74656628 T A NON_SYNONYMOUS_CODING MSLNL MODERATE|MISSENSE|Acc/Tcc|T623S|752|MSLNL|protein_coding|CODING|ENST00000543963|exon_16_820029_820290 . . 0/1:99:163,0,96 . 16 820215 rs74656628 T A NON_SYNONYMOUS_CODING MSLNL MODERATE|MISSENSE|Acc/Tcc|T924S|1053|MSLNL|protein_coding|CODING|ENST00000293892|exon_16_820029_820290 . . 0/1:99:163,0,96 . 16 825255 rs73491269 G A NON_SYNONYMOUS_CODING MSLNL MODERATE|MISSENSE|Cgg/Tgg|R132W|702|MSLNL|protein_coding|CODING|ENST00000442466|exon_16_825146_825283 . . 0/1:99:189,0,132 . 16 825255 rs73491269 G A NON_SYNONYMOUS_CODING MSLNL MODERATE|MISSENSE|Cgg/Tgg|R157W|752|MSLNL|protein_coding|CODING|ENST00000543963|exon_16_825141_825283 . . 0/1:99:189,0,132 . 16 825255 rs73491269 G A NON_SYNONYMOUS_CODING MSLNL MODERATE|MISSENSE|Cgg/Tgg|R458W|1053|MSLNL|protein_coding|CODING|ENST00000293892|exon_16_825141_825283 . . 0/1:99:189,0,132 . 16 830207 rs146766444 G A NON_SYNONYMOUS_CODING MSLNL MODERATE|MISSENSE|cCg/cTg|P265L|1053|MSLNL|protein_coding|CODING|ENST00000293892|exon_16_830042_830831 0/1:99:190,0,135 . . . 16 842518 rs35387463 C T NON_SYNONYMOUS_CODING CHTF18 MODERATE|MISSENSE|tCg/tTg|S469L|975|CHTF18|protein_coding|CODING|ENST00000262315|exon_16_842439_842590 0/1:99:181,0,186 . . . 16 842518 rs35387463 C T NON_SYNONYMOUS_CODING CHTF18 MODERATE|MISSENSE|tCg/tTg|S497L|1003|CHTF18|protein_coding|CODING|ENST00000455171|exon_16_842439_842590 0/1:99:181,0,186 . . . 16 842518 rs35387463 C T NON_SYNONYMOUS_CODING CHTF18 MODERATE|MISSENSE|tCg/tTg|S664L|1184|CHTF18|protein_coding|CODING|ENST00000317063|exon_16_842439_842590 0/1:99:181,0,186 . . . 16 855517 . GGCAGCTGCA GGCA CODON_DELETION PRR25 MODERATE||gctgca/-|AA27-|402|PRR25|protein_coding|CODING|ENST00000301698|exon_16_855443_855910 0/1:99:117,0,255 0/1:99:169,0,255 . . 16 855885 rs147922685 A G NON_SYNONYMOUS_CODING PRR25 MODERATE|MISSENSE|aAg/aGg|K148R|402|PRR25|protein_coding|CODING|ENST00000301698|exon_16_855443_855910 0/1:99:221,0,215 . . . 16 863398 rs13337837 C T NON_SYNONYMOUS_CODING PRR25 MODERATE|MISSENSE|cCg/cTg|P249L|402|PRR25|protein_coding|CODING|ENST00000301698|exon_16_863296_863861 0/1:99:118,0,235 . . . 16 863498 rs13333991 G C NON_SYNONYMOUS_CODING PRR25 MODERATE|MISSENSE|ttG/ttC|L282F|402|PRR25|protein_coding|CODING|ENST00000301698|exon_16_863296_863861 0/1:99:101,0,251 . . . 16 1129023 rs4988484 C T NON_SYNONYMOUS_CODING SSTR5 MODERATE|MISSENSE|gCg/gTg|A52V|221|SSTR5|protein_coding|CODING|ENST00000562758|exon_16_1128869_1129513 0/1:99:213,0,180 . . . 16 1129023 rs4988484 C T NON_SYNONYMOUS_CODING SSTR5 MODERATE|MISSENSE|gCg/gTg|A52V|273|SSTR5|protein_coding|CODING|ENST00000539762|exon_16_1128869_1129513 0/1:99:213,0,180 . . . 16 1129023 rs4988484 C T NON_SYNONYMOUS_CODING SSTR5 MODERATE|MISSENSE|gCg/gTg|A52V|364|SSTR5|protein_coding|CODING|ENST00000293897|exon_16_1128781_1131454 0/1:99:213,0,180 . . . 16 1129023 rs4988484 C T NON_SYNONYMOUS_CODING SSTR5 MODERATE|MISSENSE|gCg/gTg|A52V|364|SSTR5|protein_coding|CODING|ENST00000397547|exon_16_1128842_1131454 0/1:99:213,0,180 . . . 16 1129193 rs4988487 C T NON_SYNONYMOUS_CODING SSTR5 MODERATE|MISSENSE|Ccc/Tcc|P109S|221|SSTR5|protein_coding|CODING|ENST00000562758|exon_16_1128869_1129513 0/1:99:198,0,172 . . . 16 1129193 rs4988487 C T NON_SYNONYMOUS_CODING SSTR5 MODERATE|MISSENSE|Ccc/Tcc|P109S|273|SSTR5|protein_coding|CODING|ENST00000539762|exon_16_1128869_1129513 0/1:99:198,0,172 . . . 16 1129193 rs4988487 C T NON_SYNONYMOUS_CODING SSTR5 MODERATE|MISSENSE|Ccc/Tcc|P109S|364|SSTR5|protein_coding|CODING|ENST00000293897|exon_16_1128781_1131454 0/1:99:198,0,172 . . . 16 1129193 rs4988487 C T NON_SYNONYMOUS_CODING SSTR5 MODERATE|MISSENSE|Ccc/Tcc|P109S|364|SSTR5|protein_coding|CODING|ENST00000397547|exon_16_1128842_1131454 0/1:99:198,0,172 . . . 16 1263845 . A C NON_SYNONYMOUS_CODING CACNA1H MODERATE|MISSENSE|Acc/Ccc|T1609P|2347|CACNA1H|protein_coding|CODING|ENST00000358590|exon_16_1263780_1263931 . . 0/1:66:63,0,204 . 16 1263845 . A C NON_SYNONYMOUS_CODING CACNA1H MODERATE|MISSENSE|Acc/Ccc|T1609P|2347|CACNA1H|protein_coding|CODING|ENST00000565831|exon_16_1263780_1263931 . . 0/1:66:63,0,204 . 16 1263845 . A C NON_SYNONYMOUS_CODING CACNA1H MODERATE|MISSENSE|Acc/Ccc|T1615P|2353|CACNA1H|protein_coding|CODING|ENST00000348261|exon_16_1263780_1263931 . . 0/1:66:63,0,204 . 16 1265315 rs148651456 G A NON_SYNONYMOUS_CODING CACNA1H MODERATE|MISSENSE|Gcc/Acc|A1699T|2347|CACNA1H|protein_coding|CODING|ENST00000358590|exon_16_1265242_1265375 . . . 0/1:99:126,0,171 16 1265315 rs148651456 G A NON_SYNONYMOUS_CODING CACNA1H MODERATE|MISSENSE|Gcc/Acc|A1699T|2347|CACNA1H|protein_coding|CODING|ENST00000565831|exon_16_1265242_1265375 . . . 0/1:99:126,0,171 16 1265315 rs148651456 G A NON_SYNONYMOUS_CODING CACNA1H MODERATE|MISSENSE|Gcc/Acc|A1705T|2353|CACNA1H|protein_coding|CODING|ENST00000348261|exon_16_1265242_1265375 . . . 0/1:99:126,0,171 16 1312872 rs79140772 G T NON_SYNONYMOUS_CODING RP11-616M22.6.1 MODERATE|MISSENSE|gCg/gAg|A30E|247|RP11-616M22.6.1|protein_coding|CODING|ENST00000440800|exon_16_1312806_1312960 0/1:10:163,0,7 . . . 16 1417791 rs113951440 T C NON_SYNONYMOUS_CODING UNKL MODERATE|MISSENSE|Atc/Gtc|I48V|229|UNKL|protein_coding|CODING|ENST00000248104|exon_16_1417657_1417859 . 0/1:94:91,0,111 . . 16 1417791 rs113951440 T C NON_SYNONYMOUS_CODING UNKL MODERATE|MISSENSE|Atc/Gtc|I48V|229|UNKL|protein_coding|CODING|ENST00000391893|exon_16_1417657_1417859 . 0/1:94:91,0,111 . . 16 1417791 rs113951440 T C NON_SYNONYMOUS_CODING UNKL MODERATE|MISSENSE|Atc/Gtc|I51V|182|UNKL|protein_coding|CODING|ENST00000397464|exon_16_1417657_1417859 . 0/1:94:91,0,111 . . 16 1417791 rs113951440 T C NON_SYNONYMOUS_CODING UNKL MODERATE|MISSENSE|Atc/Gtc|I51V|232|UNKL|protein_coding|CODING|ENST00000402641|exon_16_1417657_1417859 . 0/1:94:91,0,111 . . 16 1417791 rs113951440 T C NON_SYNONYMOUS_CODING UNKL MODERATE|MISSENSE|Atc/Gtc|I51V|232|UNKL|protein_coding|CODING|ENST00000403703|exon_16_1417657_1417859 . 0/1:94:91,0,111 . . 16 1417791 rs113951440 T C NON_SYNONYMOUS_CODING UNKL MODERATE|MISSENSE|Atc/Gtc|I51V|75|UNKL|protein_coding|CODING|ENST00000513783|exon_16_1417714_1417859 . 0/1:94:91,0,111 . . 16 1417791 rs113951440 T C NON_SYNONYMOUS_CODING UNKL MODERATE|MISSENSE|Atc/Gtc|I549V|680|UNKL|protein_coding|CODING|ENST00000389221|exon_16_1417657_1417859 . 0/1:94:91,0,111 . . 16 1417791 rs113951440 T C NON_SYNONYMOUS_CODING UNKL MODERATE|MISSENSE|Atc/Gtc|I552V|733|UNKL|protein_coding|CODING|ENST00000508903|exon_16_1417657_1417859 . 0/1:94:91,0,111 . . 16 1420341 rs138288642 C T NON_SYNONYMOUS_CODING UNKL MODERATE|MISSENSE|Ggc/Agc|G456S|680|UNKL|protein_coding|CODING|ENST00000389221|exon_16_1420131_1420358 0/1:99:162,0,165 . . . 16 1420341 rs138288642 C T NON_SYNONYMOUS_CODING UNKL MODERATE|MISSENSE|Ggc/Agc|G459S|733|UNKL|protein_coding|CODING|ENST00000508903|exon_16_1420131_1420358 0/1:99:162,0,165 . . . 16 1456058 rs190575556 A G NON_SYNONYMOUS_CODING UNKL MODERATE|MISSENSE|Tgg/Cgg|W133R|756|UNKL|protein_coding|CODING|ENST00000397462|exon_16_1455907_1456081 . . 0/1:99:255,0,194 . 16 1486462 rs35583599 C T NON_SYNONYMOUS_CODING CCDC154 MODERATE|MISSENSE|Gcc/Acc|A346T|522|CCDC154|protein_coding|CODING|ENST00000409671|exon_16_1486446_1486522 . . . 0/1:99:127,0,203 16 1486462 rs35583599 C T NON_SYNONYMOUS_CODING CCDC154 MODERATE|MISSENSE|Gcc/Acc|A500T|674|CCDC154|protein_coding|CODING|ENST00000389176|exon_16_1486446_1486522 . . . 0/1:99:127,0,203 16 1488149 . G A NON_SYNONYMOUS_CODING CCDC154 MODERATE|MISSENSE|Cgg/Tgg|R207W|522|CCDC154|protein_coding|CODING|ENST00000409671|exon_16_1488051_1488177 0/1:61:58,0,181 . . . 16 1488149 . G A NON_SYNONYMOUS_CODING CCDC154 MODERATE|MISSENSE|Cgg/Tgg|R361W|674|CCDC154|protein_coding|CODING|ENST00000389176|exon_16_1488051_1488177 0/1:61:58,0,181 . . . 16 1493909 rs34470360 C T NON_SYNONYMOUS_CODING CCDC154 MODERATE|MISSENSE|Gag/Aag|E38K|674|CCDC154|protein_coding|CODING|ENST00000389176|exon_16_1493797_1494013 . . 0/1:90:255,0,87 0/1:99:211,0,219 16 1496613 rs11860968 T C NON_SYNONYMOUS_CODING CLCN7 MODERATE|MISSENSE|aAt/aGt|N789S|901|CLCN7|protein_coding|CODING|ENST00000262318|exon_16_1495345_1496718 . . 0/1:99:237,0,169 0/1:99:150,0,241 16 1502857 rs12926089 C T NON_SYNONYMOUS_CODING CLCN7 MODERATE|MISSENSE|Gtg/Atg|V360M|747|CLCN7|protein_coding|CODING|ENST00000428756|exon_16_1502756_1502894 . . 0/1:99:210,0,130 0/1:99:169,0,255 16 1502857 rs12926089 C T NON_SYNONYMOUS_CODING CLCN7 MODERATE|MISSENSE|Gtg/Atg|V394M|781|CLCN7|protein_coding|CODING|ENST00000448525|exon_16_1502756_1502894 . . 0/1:99:210,0,130 0/1:99:169,0,255 16 1502857 rs12926089 C T NON_SYNONYMOUS_CODING CLCN7 MODERATE|MISSENSE|Gtg/Atg|V394M|901|CLCN7|protein_coding|CODING|ENST00000262318|exon_16_1502756_1502894 . . 0/1:99:210,0,130 0/1:99:169,0,255 16 1502857 rs12926089 C T NON_SYNONYMOUS_CODING CLCN7 MODERATE|MISSENSE|Gtg/Atg|V418M|805|CLCN7|protein_coding|CODING|ENST00000382745|exon_16_1502756_1502894 . . 0/1:99:210,0,130 0/1:99:169,0,255 16 1536466 rs61751878 C T NON_SYNONYMOUS_CODING PTX4 MODERATE|MISSENSE|Gca/Aca|A156T|192|PTX4|protein_coding|CODING|ENST00000440447|exon_16_1535887_1536580 . . . 1/1:99:255,66,0 16 1536466 rs61751878 C T NON_SYNONYMOUS_CODING PTX4 MODERATE|MISSENSE|cGc/cAc|R299H|473|PTX4|protein_coding|CODING|ENST00000293922|exon_16_1535940_1536580 . . . 1/1:99:255,66,0 16 1536466 rs61751878 C T NON_SYNONYMOUS_CODING PTX4 MODERATE|MISSENSE|cGc/cAc|R304H|478|PTX4|protein_coding|CODING|ENST00000447419|exon_16_1535887_1536580 . . . 1/1:99:255,66,0 16 1537745 . C T NON_SYNONYMOUS_CODING PTX4 MODERATE|MISSENSE|cGg/cAg|R118Q|473|PTX4|protein_coding|CODING|ENST00000293922|exon_16_1537317_1537971 . 0/1:99:192,0,200 . . 16 1537745 . C T NON_SYNONYMOUS_CODING PTX4 MODERATE|MISSENSE|cGg/cAg|R123Q|478|PTX4|protein_coding|CODING|ENST00000447419|exon_16_1537317_1537971 . 0/1:99:192,0,200 . . 16 1537874 rs7202502 G A NON_SYNONYMOUS_CODING PTX4 MODERATE|MISSENSE|gCg/gTg|A75V|473|PTX4|protein_coding|CODING|ENST00000293922|exon_16_1537317_1537971 . 0/1:99:151,0,215 . . 16 1537874 rs7202502 G A NON_SYNONYMOUS_CODING PTX4 MODERATE|MISSENSE|gCg/gTg|A80V|192|PTX4|protein_coding|CODING|ENST00000440447|exon_16_1537762_1537971 . 0/1:99:151,0,215 . . 16 1537874 rs7202502 G A NON_SYNONYMOUS_CODING PTX4 MODERATE|MISSENSE|gCg/gTg|A80V|478|PTX4|protein_coding|CODING|ENST00000447419|exon_16_1537317_1537971 . 0/1:99:151,0,215 . . 16 1877558 rs3743853 G A NON_SYNONYMOUS_CODING FAHD1 MODERATE|MISSENSE|Gac/Aac|D110N|224|FAHD1|protein_coding|CODING|ENST00000427358|exon_16_1877225_1878908 0/1:99:186,0,235 . . . 16 1877558 rs3743853 G A NON_SYNONYMOUS_CODING FAHD1 MODERATE|MISSENSE|Gac/Aac|D110N|226|FAHD1|protein_coding|CODING|ENST00000382668|exon_16_1876968_1877866 0/1:99:186,0,235 . . . 16 1877558 rs3743853 G A NON_SYNONYMOUS_CODING FAHD1 MODERATE|MISSENSE|Gac/Aac|D110N|248|FAHD1|protein_coding|CODING|ENST00000382666|exon_16_1876968_1877866 0/1:99:186,0,235 . . . 16 1894961 rs9806945 A G NON_SYNONYMOUS_CODING C16orf73 MODERATE|MISSENSE|aTa/aCa|I261T|442|C16orf73|protein_coding|CODING|ENST00000397344|exon_16_1894863_1894964 0/1:99:239,0,255 . . . 16 1894961 rs9806945 A G NON_SYNONYMOUS_CODING C16orf73 MODERATE|MISSENSE|aTa/aCa|I261T|442|C16orf73|protein_coding|CODING|ENST00000452149|exon_16_1894863_1894964 0/1:99:239,0,255 . . . 16 1894961 rs9806945 A G NON_SYNONYMOUS_CODING C16orf73 MODERATE|MISSENSE|aTa/aCa|I261T|471|C16orf73|protein_coding|CODING|ENST00000325962|exon_16_1894863_1894964 0/1:99:239,0,255 . . . 16 1894961 rs9806945 A G NON_SYNONYMOUS_CODING C16orf73 MODERATE|MISSENSE|aTa/aCa|I261T|471|C16orf73|protein_coding|CODING|ENST00000412554|exon_16_1894863_1894964 0/1:99:239,0,255 . . . 16 1894961 rs9806945 A G NON_SYNONYMOUS_CODING C16orf73 MODERATE|MISSENSE|aTa/aCa|I54T|264|C16orf73|protein_coding|CODING|ENST00000470044|exon_16_1894863_1894964 0/1:99:239,0,255 . . . 16 1903268 rs62617828 C T NON_SYNONYMOUS_CODING C16orf73 MODERATE|MISSENSE|Gat/Aat|D212N|442|C16orf73|protein_coding|CODING|ENST00000397344|exon_16_1903220_1903272 . 0/1:99:255,0,255 . . 16 1903268 rs62617828 C T NON_SYNONYMOUS_CODING C16orf73 MODERATE|MISSENSE|Gat/Aat|D212N|442|C16orf73|protein_coding|CODING|ENST00000452149|exon_16_1903220_1903272 . 0/1:99:255,0,255 . . 16 1903268 rs62617828 C T NON_SYNONYMOUS_CODING C16orf73 MODERATE|MISSENSE|Gat/Aat|D212N|471|C16orf73|protein_coding|CODING|ENST00000325962|exon_16_1903220_1903272 . 0/1:99:255,0,255 . . 16 1903268 rs62617828 C T NON_SYNONYMOUS_CODING C16orf73 MODERATE|MISSENSE|Gat/Aat|D212N|471|C16orf73|protein_coding|CODING|ENST00000412554|exon_16_1903220_1903272 . 0/1:99:255,0,255 . . 16 1903268 rs62617828 C T NON_SYNONYMOUS_CODING C16orf73 MODERATE|MISSENSE|Gat/Aat|D5N|264|C16orf73|protein_coding|CODING|ENST00000470044|exon_16_1903220_1903272 . 0/1:99:255,0,255 . . 16 1903268 rs62617828 C T NON_SYNONYMOUS_CODING C16orf73 MODERATE|MISSENSE|Gat/Aat|D5N|52|C16orf73|protein_coding|CODING|ENST00000496541|exon_16_1903220_1903272 . 0/1:99:255,0,255 . . 16 1961836 rs142644766 G A NON_SYNONYMOUS_CODING HS3ST6 MODERATE|MISSENSE|Cgc/Tgc|R231C|311|HS3ST6|protein_coding|CODING|ENST00000443547|exon_16_1961464_1962206 . 0/1:99:148,0,228 . . 16 1961836 rs142644766 G A NON_SYNONYMOUS_CODING HS3ST6 MODERATE|MISSENSE|Cgc/Tgc|R262C|342|HS3ST6|protein_coding|CODING|ENST00000293937|exon_16_1961464_1962206 . 0/1:99:148,0,228 . . 16 1961836 rs142644766 G A NON_SYNONYMOUS_CODING HS3ST6 MODERATE|MISSENSE|Cgc/Tgc|R279C|359|HS3ST6|protein_coding|CODING|ENST00000454677|exon_16_1961464_1962206 . 0/1:99:148,0,228 . . 16 1997019 . A T NON_SYNONYMOUS_CODING RPL3L MODERATE|MISSENSE|Tgg/Agg|W257R|407|RPL3L|protein_coding|CODING|ENST00000268661|exon_16_1996939_1997099 . . 0/1:99:181,0,115 . 16 2002960 rs118144581 C T NON_SYNONYMOUS_CODING RPL3L MODERATE|MISSENSE|Gcc/Acc|A42T|42|RPL3L|protein_coding|CODING|ENST00000565426|exon_16_2002955_2003043 . . 0/1:99:208,0,146 . 16 2002960 rs118144581 C T NON_SYNONYMOUS_CODING RPL3L MODERATE|MISSENSE|Gcc/Acc|A94T|407|RPL3L|protein_coding|CODING|ENST00000268661|exon_16_2002875_2003043 . . 0/1:99:208,0,146 . 16 2040633 . T C NON_SYNONYMOUS_CODING SYNGR3 MODERATE|MISSENSE|cTc/cCc|L60P|176|SYNGR3|protein_coding|CODING|ENST00000568896|exon_16_2040500_2040673 . 0/1:99:218,0,98 . . 16 2049003 rs2286468 A T NON_SYNONYMOUS_CODING ZNF598 MODERATE|MISSENSE|Tgt/Agt|C670S|849|ZNF598|protein_coding|CODING|ENST00000562103|exon_16_2048966_2049122 0/1:63:111,0,60 . . . 16 2049003 rs2286468 A T NON_SYNONYMOUS_CODING ZNF598 MODERATE|MISSENSE|Tgt/Agt|C670S|849|ZNF598|protein_coding|CODING|ENST00000563630|exon_16_2048966_2049122 0/1:63:111,0,60 . . . 16 2049003 rs2286468 A T NON_SYNONYMOUS_CODING ZNF598 MODERATE|MISSENSE|Tgt/Agt|C725S|904|ZNF598|protein_coding|CODING|ENST00000431526|exon_16_2048966_2049122 0/1:63:111,0,60 . . . 16 2110795 rs1800725 G A NON_SYNONYMOUS_CODING TSC2 MODERATE|MISSENSE|cGg/cAg|R318Q|1692|TSC2|protein_coding|CODING|ENST00000382538|exon_16_2110671_2110814 . . . 0/1:99:133,0,163 16 2110795 rs1800725 G A NON_SYNONYMOUS_CODING TSC2 MODERATE|MISSENSE|cGg/cAg|R330Q|1704|TSC2|protein_coding|CODING|ENST00000439673|exon_16_2110671_2110814 . . . 0/1:99:133,0,163 16 2110795 rs1800725 G A NON_SYNONYMOUS_CODING TSC2 MODERATE|MISSENSE|cGg/cAg|R367Q|1740|TSC2|protein_coding|CODING|ENST00000401874|exon_16_2110671_2110814 . . . 0/1:99:133,0,163 16 2110795 rs1800725 G A NON_SYNONYMOUS_CODING TSC2 MODERATE|MISSENSE|cGg/cAg|R367Q|1764|TSC2|protein_coding|CODING|ENST00000353929|exon_16_2110671_2110814 . . . 0/1:99:133,0,163 16 2110795 rs1800725 G A NON_SYNONYMOUS_CODING TSC2 MODERATE|MISSENSE|cGg/cAg|R367Q|1784|TSC2|protein_coding|CODING|ENST00000350773|exon_16_2110671_2110814 . . . 0/1:99:133,0,163 16 2110795 rs1800725 G A NON_SYNONYMOUS_CODING TSC2 MODERATE|MISSENSE|cGg/cAg|R367Q|1807|TSC2|protein_coding|CODING|ENST00000219476|exon_16_2110671_2110814 . . . 0/1:99:133,0,163 16 2110795 rs1800725 G A NON_SYNONYMOUS_CODING TSC2 MODERATE|MISSENSE|cGg/cAg|R378Q|1751|TSC2|protein_coding|CODING|ENST00000568454|exon_16_2110671_2110814 . . . 0/1:99:133,0,163 16 2153308 . G A NON_SYNONYMOUS_CODING PKD1 MODERATE|MISSENSE|Cgg/Tgg|R1155W|1230|PKD1|protein_coding|CODING|ENST00000382481|exon_16_2153267_2153392 0/1:99:247,0,161 . . . 16 2153308 . G A NON_SYNONYMOUS_CODING PKD1 MODERATE|MISSENSE|gCg/gTg|A2252V|3637|PKD1|protein_coding|CODING|ENST00000306101|exon_16_2153267_2153896 0/1:99:247,0,161 . . . 16 2153308 . G A NON_SYNONYMOUS_CODING PKD1 MODERATE|MISSENSE|gCg/gTg|A2917V|4302|PKD1|protein_coding|CODING|ENST00000423118|exon_16_2153267_2153896 0/1:99:247,0,161 . . . 16 2153308 . G A NON_SYNONYMOUS_CODING PKD1 MODERATE|MISSENSE|gCg/gTg|A2917V|4303|PKD1|protein_coding|CODING|ENST00000262304|exon_16_2153267_2153896 0/1:99:247,0,161 . . . 16 2153342 . C T NON_SYNONYMOUS_CODING PKD1 MODERATE|MISSENSE|Ggt/Agt|G2241S|3637|PKD1|protein_coding|CODING|ENST00000306101|exon_16_2153267_2153896 0/1:99:255,0,134 . . . 16 2153342 . C T NON_SYNONYMOUS_CODING PKD1 MODERATE|MISSENSE|Ggt/Agt|G2906S|4302|PKD1|protein_coding|CODING|ENST00000423118|exon_16_2153267_2153896 0/1:99:255,0,134 . . . 16 2153342 . C T NON_SYNONYMOUS_CODING PKD1 MODERATE|MISSENSE|Ggt/Agt|G2906S|4303|PKD1|protein_coding|CODING|ENST00000262304|exon_16_2153267_2153896 0/1:99:255,0,134 . . . 16 2155426 rs9936785 T C NON_SYNONYMOUS_CODING PKD1 MODERATE|MISSENSE|cAc/cGc|H1973R|3637|PKD1|protein_coding|CODING|ENST00000306101|exon_16_2155323_2155427 . . . 0/1:88:133,0,85 16 2155426 rs9936785 T C NON_SYNONYMOUS_CODING PKD1 MODERATE|MISSENSE|cAc/cGc|H2638R|4302|PKD1|protein_coding|CODING|ENST00000423118|exon_16_2155323_2155475 . . . 0/1:88:133,0,85 16 2155426 rs9936785 T C NON_SYNONYMOUS_CODING PKD1 MODERATE|MISSENSE|cAc/cGc|H2638R|4303|PKD1|protein_coding|CODING|ENST00000262304|exon_16_2155323_2155475 . . . 0/1:88:133,0,85 16 2155426 rs9936785 T C NON_SYNONYMOUS_CODING PKD1 MODERATE|MISSENSE|cAc/cGc|H917R|1230|PKD1|protein_coding|CODING|ENST00000382481|exon_16_2155323_2155475 . . . 0/1:88:133,0,85 16 2159039 . G T NON_SYNONYMOUS_CODING PKD1 MODERATE|MISSENSE|ttC/ttA|F2043L|4302|PKD1|protein_coding|CODING|ENST00000423118|exon_16_2158253_2161872 0/1:99:186,0,190 . . . 16 2159039 . G T NON_SYNONYMOUS_CODING PKD1 MODERATE|MISSENSE|ttC/ttA|F2043L|4303|PKD1|protein_coding|CODING|ENST00000262304|exon_16_2158253_2161872 0/1:99:186,0,190 . . . 16 2159039 . G T NON_SYNONYMOUS_CODING PKD1 MODERATE|MISSENSE|ttC/ttA|F322L|1230|PKD1|protein_coding|CODING|ENST00000382481|exon_16_2158253_2161872 0/1:99:186,0,190 . . . 16 2160973 rs116092985 A G NON_SYNONYMOUS_CODING PKD1 MODERATE|MISSENSE|Tgg/Cgg|W1080R|3637|PKD1|protein_coding|CODING|ENST00000306101|exon_16_2160596_2161651 . . . 0/1:99:152,0,169 16 2160973 rs116092985 A G NON_SYNONYMOUS_CODING PKD1 MODERATE|MISSENSE|Tgg/Cgg|W1399R|4302|PKD1|protein_coding|CODING|ENST00000423118|exon_16_2158253_2161872 . . . 0/1:99:152,0,169 16 2160973 rs116092985 A G NON_SYNONYMOUS_CODING PKD1 MODERATE|MISSENSE|Tgg/Cgg|W1399R|4303|PKD1|protein_coding|CODING|ENST00000262304|exon_16_2158253_2161872 . . . 0/1:99:152,0,169 16 2161300 . G C NON_SYNONYMOUS_CODING PKD1 MODERATE|MISSENSE|Ctg/Gtg|L1290V|4302|PKD1|protein_coding|CODING|ENST00000423118|exon_16_2158253_2161872 0/1:99:255,0,132 . . . 16 2161300 . G C NON_SYNONYMOUS_CODING PKD1 MODERATE|MISSENSE|Ctg/Gtg|L1290V|4303|PKD1|protein_coding|CODING|ENST00000262304|exon_16_2158253_2161872 0/1:99:255,0,132 . . . 16 2161300 . G C NON_SYNONYMOUS_CODING PKD1 MODERATE|MISSENSE|Ctg/Gtg|L971V|3637|PKD1|protein_coding|CODING|ENST00000306101|exon_16_2160596_2161651 0/1:99:255,0,132 . . . 16 2161620 . G C NON_SYNONYMOUS_CODING PKD1 MODERATE|MISSENSE|tCg/tGg|S1183W|4302|PKD1|protein_coding|CODING|ENST00000423118|exon_16_2158253_2161872 0/1:99:152,0,244 . . . 16 2161620 . G C NON_SYNONYMOUS_CODING PKD1 MODERATE|MISSENSE|tCg/tGg|S1183W|4303|PKD1|protein_coding|CODING|ENST00000262304|exon_16_2158253_2161872 0/1:99:152,0,244 . . . 16 2161620 . G C NON_SYNONYMOUS_CODING PKD1 MODERATE|MISSENSE|tCg/tGg|S864W|3637|PKD1|protein_coding|CODING|ENST00000306101|exon_16_2160596_2161651 0/1:99:152,0,244 . . . 16 2162361 rs2549677 A G NON_SYNONYMOUS_CODING PKD1 MODERATE|MISSENSE|aTg/aCg|M1092T|4302|PKD1|protein_coding|CODING|ENST00000423118|exon_16_2162341_2162474 . . . 0/1:99:100,0,139 16 2162361 rs2549677 A G NON_SYNONYMOUS_CODING PKD1 MODERATE|MISSENSE|aTg/aCg|M1092T|4303|PKD1|protein_coding|CODING|ENST00000262304|exon_16_2162341_2162474 . . . 0/1:99:100,0,139 16 2162361 rs2549677 A G NON_SYNONYMOUS_CODING PKD1 MODERATE|MISSENSE|aTg/aCg|M807T|3637|PKD1|protein_coding|CODING|ENST00000306101|exon_16_2162341_2162474 . . . 0/1:99:100,0,139 16 2239544 . G A NON_SYNONYMOUS_CODING CASKIN1 MODERATE|MISSENSE|gCg/gTg|A89V|1431|CASKIN1|protein_coding|CODING|ENST00000343516|exon_16_2239420_2239565 0/1:99:241,0,158 . . . 16 2259663 . C G NON_SYNONYMOUS_CODING C16orf79 MODERATE|MISSENSE|caG/caC|Q161H|228|C16orf79|protein_coding|CODING|ENST00000328540|exon_16_2259554_2259707 . 0/1:99:194,0,216 . . 16 2259663 . C G NON_SYNONYMOUS_CODING C16orf79 MODERATE|MISSENSE|caG/caC|Q161H|260|C16orf79|protein_coding|CODING|ENST00000562360|exon_16_2259363_2259707 . 0/1:99:194,0,216 . . 16 2514286 rs149139826 G A NON_SYNONYMOUS_CODING C16orf59 MODERATE|MISSENSE|cGa/cAa|R404Q|405|C16orf59|protein_coding|CODING|ENST00000569496|exon_16_2514040_2514927 0/1:99:255,0,145 . . . 16 2821525 rs4036 G A NON_SYNONYMOUS_CODING TCEB2 MODERATE|MISSENSE|aCg/aTg|T145M|161|TCEB2|protein_coding|CODING|ENST00000262306|exon_16_2821415_2821605 . 0/1:99:141,0,242 . . 16 2880745 rs34779825 G A NON_SYNONYMOUS_CODING ZG16B MODERATE|MISSENSE|Gac/Aac|D71N|208|ZG16B|protein_coding|CODING|ENST00000382280|exon_16_2880695_2880797 . 0/1:99:244,0,222 . . 16 3065550 . C T NON_SYNONYMOUS_CODING CLDN6 MODERATE|MISSENSE|cGg/cAg|R158Q|220|CLDN6|protein_coding|CODING|ENST00000328796|exon_16_3064714_3066043 . . . 0/1:99:206,0,183 16 3065550 . C T NON_SYNONYMOUS_CODING CLDN6 MODERATE|MISSENSE|cGg/cAg|R158Q|220|CLDN6|protein_coding|CODING|ENST00000396925|exon_16_3064713_3066043 . . . 0/1:99:206,0,183 16 3139310 rs61732498 G C NON_SYNONYMOUS_CODING ZSCAN10 MODERATE|MISSENSE|Ctg/Gtg|L587V|658|ZSCAN10|protein_coding|CODING|ENST00000538082|exon_16_3138895_3140647 0/1:99:223,0,253 . . . 16 3139310 rs61732498 G C NON_SYNONYMOUS_CODING ZSCAN10 MODERATE|MISSENSE|Ctg/Gtg|L654V|725|ZSCAN10|protein_coding|CODING|ENST00000252463|exon_16_3138895_3140647 0/1:99:223,0,253 . . . 16 3304626 rs3743930 C G NON_SYNONYMOUS_CODING MEFV MODERATE|MISSENSE|Gag/Cag|E148Q|688|MEFV|protein_coding|CODING|ENST00000545159|exon_16_3304158_3304790 0/1:99:187,0,246 . . . 16 3304626 rs3743930 C G NON_SYNONYMOUS_CODING MEFV MODERATE|MISSENSE|Gag/Cag|E148Q|781|MEFV|protein_coding|CODING|ENST00000219596|exon_16_3304158_3304790 0/1:99:187,0,246 . . . 16 3366981 . T C NON_SYNONYMOUS_CODING ZNF75A MODERATE|MISSENSE|gTa/gCa|V57A|296|ZNF75A|protein_coding|CODING|ENST00000293995|exon_16_3366912_3367022 0/1:99:200,0,246 . . . 16 3543981 . C A NON_SYNONYMOUS_CODING C16orf90 MODERATE|MISSENSE|aGt/aTt|S136I|182|C16orf90|protein_coding|CODING|ENST00000437192|exon_16_3543839_3543987 0/1:99:221,0,239 . . . 16 3594316 rs74760019 C T NON_SYNONYMOUS_CODING NLRC3 MODERATE|MISSENSE|Gcc/Acc|A900T|1036|NLRC3|protein_coding|CODING|ENST00000359128|exon_16_3594246_3594329 . . 0/1:99:208,0,151 . 16 3594316 rs74760019 C T NON_SYNONYMOUS_CODING NLRC3 MODERATE|MISSENSE|Gcc/Acc|A929T|1065|NLRC3|protein_coding|CODING|ENST00000301749|exon_16_3594246_3594329 . . 0/1:99:208,0,151 . 16 3594316 rs74760019 C T NON_SYNONYMOUS_CODING NLRC3 MODERATE|MISSENSE|Gcc/Acc|A975T|1111|NLRC3|protein_coding|CODING|ENST00000448023|exon_16_3594246_3594329 . . 0/1:99:208,0,151 . 16 3613263 rs142571279 C T NON_SYNONYMOUS_CODING NLRC3 MODERATE|MISSENSE|Gca/Aca|A541T|660|NLRC3|protein_coding|CODING|ENST00000324659|exon_16_3612901_3614613 . . 0/1:99:255,0,239 . 16 3613263 rs142571279 C T NON_SYNONYMOUS_CODING NLRC3 MODERATE|MISSENSE|Gca/Aca|A559T|1036|NLRC3|protein_coding|CODING|ENST00000359128|exon_16_3613010_3614759 . . 0/1:99:255,0,239 . 16 3613263 rs142571279 C T NON_SYNONYMOUS_CODING NLRC3 MODERATE|MISSENSE|Gca/Aca|A559T|1065|NLRC3|protein_coding|CODING|ENST00000301749|exon_16_3613010_3614759 . . 0/1:99:255,0,239 . 16 3613263 rs142571279 C T NON_SYNONYMOUS_CODING NLRC3 MODERATE|MISSENSE|Gca/Aca|A559T|761|NLRC3|protein_coding|CODING|ENST00000419350|exon_16_3613010_3614759 . . 0/1:99:255,0,239 . 16 3613263 rs142571279 C T NON_SYNONYMOUS_CODING NLRC3 MODERATE|MISSENSE|Gca/Aca|A606T|1111|NLRC3|protein_coding|CODING|ENST00000448023|exon_16_3613010_3614759 . . 0/1:99:255,0,239 . 16 3639782 rs149011965 G A NON_SYNONYMOUS_CODING SLX4 MODERATE|MISSENSE|gCg/gTg|A1286V|1834|SLX4|protein_coding|CODING|ENST00000294008|exon_16_3639003_3641311 . . . 0/1:92:220,0,89 16 3778363 rs139688311 C T NON_SYNONYMOUS_CODING CREBBP MODERATE|MISSENSE|Ggc/Agc|G2191S|2404|CREBBP|protein_coding|CODING|ENST00000382070|exon_16_3775055_3779875 . . 0/1:99:148,0,98 . 16 3778363 rs139688311 C T NON_SYNONYMOUS_CODING CREBBP MODERATE|MISSENSE|Ggc/Agc|G2229S|2442|CREBBP|protein_coding|CODING|ENST00000262367|exon_16_3775055_3779875 . . 0/1:99:148,0,98 . 16 3778363 rs139688311 C T NON_SYNONYMOUS_CODING CREBBP MODERATE|MISSENSE|Ggc/Agc|G2259S|2472|CREBBP|protein_coding|CODING|ENST00000543883|exon_16_3775055_3779875 . . 0/1:99:148,0,98 . 16 3778363 rs139688311 C T NON_SYNONYMOUS_CODING CREBBP MODERATE|MISSENSE|Ggc/Agc|G764S|977|CREBBP|protein_coding|CODING|ENST00000323508|exon_16_3775055_3779875 . . 0/1:99:148,0,98 . 16 4057515 rs144065949 G A NON_SYNONYMOUS_CODING ADCY9 MODERATE|MISSENSE|Cgc/Tgc|R580C|1353|ADCY9|protein_coding|CODING|ENST00000294016|exon_16_4057369_4057559 . . 0/1:99:255,0,255 . 16 4390358 rs11989 G T NON_SYNONYMOUS_CODING PAM16 MODERATE|MISSENSE|Cag/Aag|Q114K|125|PAM16|protein_coding|CODING|ENST00000318059|exon_16_4390252_4390406 0/1:99:188,0,157 . . . 16 4625931 rs185475621 C T NON_SYNONYMOUS_CODING C16orf96 MODERATE|MISSENSE|Cgc/Tgc|R484C|1141|C16orf96|protein_coding|CODING|ENST00000444310|exon_16_4625175_4626636 . . 0/1:99:255,0,255 . 16 4796399 rs61746912 C T NON_SYNONYMOUS_CODING C16orf71 MODERATE|MISSENSE|tCc/tTc|S111F|275|C16orf71|protein_coding|CODING|ENST00000411541|exon_16_4796376_4796513 . 0/1:99:255,0,255 . . 16 4796399 rs61746912 C T NON_SYNONYMOUS_CODING C16orf71 MODERATE|MISSENSE|tCc/tTc|S356F|520|C16orf71|protein_coding|CODING|ENST00000299320|exon_16_4796376_4796513 . 0/1:99:255,0,255 . . 16 4847824 rs138409264 C T NON_SYNONYMOUS_CODING ROGDI MODERATE|MISSENSE|cGc/cAc|R238H|287|ROGDI|protein_coding|CODING|ENST00000322048|exon_16_4847715_4847841 . . 0/1:99:242,0,125 . 16 4920335 rs35103368 A G NON_SYNONYMOUS_CODING UBN1 MODERATE|MISSENSE|tAt/tGt|Y435C|1104|UBN1|protein_coding|CODING|ENST00000545171|exon_16_4920213_4920342 . 0/1:99:193,0,254 . . 16 4920335 rs35103368 A G NON_SYNONYMOUS_CODING UBN1 MODERATE|MISSENSE|tAt/tGt|Y435C|1104|UBN1|protein_coding|CODING|ENST00000569442|exon_16_4920213_4920342 . 0/1:99:193,0,254 . . 16 4920335 rs35103368 A G NON_SYNONYMOUS_CODING UBN1 MODERATE|MISSENSE|tAt/tGt|Y435C|1134|UBN1|protein_coding|CODING|ENST00000262376|exon_16_4920213_4920342 . 0/1:99:193,0,254 . . 16 4920335 rs35103368 A G NON_SYNONYMOUS_CODING UBN1 MODERATE|MISSENSE|tAt/tGt|Y435C|1134|UBN1|protein_coding|CODING|ENST00000396658|exon_16_4920213_4920342 . 0/1:99:193,0,254 . . 16 4935636 rs2075639 G A NON_SYNONYMOUS_CODING PPL MODERATE|MISSENSE|gCg/gTg|A1005V|1754|PPL|protein_coding|CODING|ENST00000564995|exon_16_4933117_4936048 0/1:99:206,0,143 . . 0/1:99:188,0,192 16 4935636 rs2075639 G A NON_SYNONYMOUS_CODING PPL MODERATE|MISSENSE|gCg/gTg|A1007V|1756|PPL|protein_coding|CODING|ENST00000345988|exon_16_4932508_4936048 0/1:99:206,0,143 . . 0/1:99:188,0,192 16 4936047 . T A NON_SYNONYMOUS_CODING PPL MODERATE|MISSENSE|cAg/cTg|Q868L|1754|PPL|protein_coding|CODING|ENST00000564995|exon_16_4933117_4936048 0/1:99:243,0,191 . . . 16 4936047 . T A NON_SYNONYMOUS_CODING PPL MODERATE|MISSENSE|cAg/cTg|Q870L|1756|PPL|protein_coding|CODING|ENST00000345988|exon_16_4932508_4936048 0/1:99:243,0,191 . . . 16 4945687 rs35340520 G T NON_SYNONYMOUS_CODING PPL MODERATE|MISSENSE|Ctg/Atg|L333M|1754|PPL|protein_coding|CODING|ENST00000564995|exon_16_4945595_4945717 . 0/1:99:148,0,255 . . 16 4945687 rs35340520 G T NON_SYNONYMOUS_CODING PPL MODERATE|MISSENSE|Ctg/Atg|L335M|1756|PPL|protein_coding|CODING|ENST00000345988|exon_16_4945595_4945717 . 0/1:99:148,0,255 . . 16 5097947 rs1127920 A G NON_SYNONYMOUS_CODING C16orf89 MODERATE|MISSENSE|tTa/tCa|L296S|361|C16orf89|protein_coding|CODING|ENST00000472572|exon_16_5097879_5097965 1/1:99:255,129,0 0/1:99:255,0,229 . . 16 5097947 rs1127920 A G NON_SYNONYMOUS_CODING C16orf89 MODERATE|MISSENSE|tTa/tCa|L296S|402|C16orf89|protein_coding|CODING|ENST00000477550|exon_16_5097879_5097965 1/1:99:255,129,0 0/1:99:255,0,229 . . 16 5097947 rs1127920 A G NON_SYNONYMOUS_CODING C16orf89 MODERATE|MISSENSE|tTa/tCa|L328S|434|C16orf89|protein_coding|CODING|ENST00000315997|exon_16_5097879_5097965 1/1:99:255,129,0 0/1:99:255,0,229 . . 16 5097947 rs1127920 A G NON_SYNONYMOUS_CODING C16orf89 MODERATE|MISSENSE|tTa/tCa|L328S|434|C16orf89|protein_coding|CODING|ENST00000474471|exon_16_5097879_5097965 1/1:99:255,129,0 0/1:99:255,0,229 . . 16 5097947 rs1127920 A G NON_SYNONYMOUS_CODING C16orf89 MODERATE|MISSENSE|tTa/tCa|L334S|399|C16orf89|protein_coding|CODING|ENST00000422873|exon_16_5097879_5097965 1/1:99:255,129,0 0/1:99:255,0,229 . . 16 5097947 rs1127920 A G NON_SYNONYMOUS_CODING C16orf89 MODERATE|MISSENSE|tTa/tCa|L334S|440|C16orf89|protein_coding|CODING|ENST00000350219|exon_16_5097879_5097965 1/1:99:255,129,0 0/1:99:255,0,229 . . 16 5115751 rs142191897 C A NON_SYNONYMOUS_CODING C16orf89 MODERATE|MISSENSE|agG/agT|R53S|361|C16orf89|protein_coding|CODING|ENST00000472572|exon_16_5115702_5116041 . . 0/1:99:129,0,243 . 16 5115751 rs142191897 C A NON_SYNONYMOUS_CODING C16orf89 MODERATE|MISSENSE|agG/agT|R53S|402|C16orf89|protein_coding|CODING|ENST00000477550|exon_16_5115702_5116111 . . 0/1:99:129,0,243 . 16 5115751 rs142191897 C A NON_SYNONYMOUS_CODING C16orf89 MODERATE|MISSENSE|agG/agT|R53S|434|C16orf89|protein_coding|CODING|ENST00000315997|exon_16_5115702_5116111 . . 0/1:99:129,0,243 . 16 5115751 rs142191897 C A NON_SYNONYMOUS_CODING C16orf89 MODERATE|MISSENSE|agG/agT|R53S|434|C16orf89|protein_coding|CODING|ENST00000474471|exon_16_5115702_5115972 . . 0/1:99:129,0,243 . 16 5115751 rs142191897 C A NON_SYNONYMOUS_CODING C16orf89 MODERATE|MISSENSE|agG/agT|R91S|399|C16orf89|protein_coding|CODING|ENST00000422873|exon_16_5115702_5116111 . . 0/1:99:129,0,243 . 16 5115751 rs142191897 C A NON_SYNONYMOUS_CODING C16orf89 MODERATE|MISSENSE|agG/agT|R91S|440|C16orf89|protein_coding|CODING|ENST00000350219|exon_16_5115702_5116111 . . 0/1:99:129,0,243 . 16 5140539 rs138595696 C T NON_SYNONYMOUS_CODING FAM86A MODERATE|MISSENSE|Gag/Aag|E124K|330|FAM86A|protein_coding|CODING|ENST00000427587|exon_16_5140433_5140566 0/1:99:255,0,162 . . . 16 5140539 rs138595696 C T NON_SYNONYMOUS_CODING FAM86A MODERATE|MISSENSE|Gag/Aag|E144K|350|FAM86A|protein_coding|CODING|ENST00000567867|exon_16_5140433_5140566 0/1:99:255,0,162 . . . 16 5140539 rs138595696 C T NON_SYNONYMOUS_CODING FAM86A MODERATE|MISSENSE|Gag/Aag|E63K|269|FAM86A|protein_coding|CODING|ENST00000564516|exon_16_5140433_5140566 0/1:99:255,0,162 . . . 16 5140539 rs138595696 C T NON_SYNONYMOUS_CODING FAM86A MODERATE|MISSENSE|Gag/Aag|E90K|153|FAM86A|protein_coding|CODING|ENST00000568761|exon_16_5140433_5140566 0/1:99:255,0,162 . . . 16 5140539 rs138595696 C T NON_SYNONYMOUS_CODING FAM86A MODERATE|MISSENSE|Gag/Aag|E90K|296|FAM86A|protein_coding|CODING|ENST00000458008|exon_16_5140433_5140566 0/1:99:255,0,162 . . . 16 10576102 rs117687498 C T NON_SYNONYMOUS_CODING ATF7IP2 MODERATE|MISSENSE|aCg/aTg|T226M|226|ATF7IP2|protein_coding|CODING|ENST00000543967|exon_16_10575693_10576343 0/1:99:197,0,255 . . . 16 10576102 rs117687498 C T NON_SYNONYMOUS_CODING ATF7IP2 MODERATE|MISSENSE|aCg/aTg|T682M|682|ATF7IP2|protein_coding|CODING|ENST00000356427|exon_16_10575693_10577494 0/1:99:197,0,255 . . . 16 10576102 rs117687498 C T NON_SYNONYMOUS_CODING ATF7IP2 MODERATE|MISSENSE|aCg/aTg|T682M|682|ATF7IP2|protein_coding|CODING|ENST00000396560|exon_16_10575693_10577495 0/1:99:197,0,255 . . . 16 10989219 rs2229317 C G NON_SYNONYMOUS_CODING CIITA MODERATE|MISSENSE|Ctg/Gtg|L45V|1130|CIITA|protein_coding|CODING|ENST00000324288|exon_16_10989139_10989285 0/1:99:238,0,255 . . . 16 10989219 rs2229317 C G NON_SYNONYMOUS_CODING CIITA MODERATE|MISSENSE|Ctg/Gtg|L45V|353|CIITA|protein_coding|CODING|ENST00000537380|exon_16_10989139_10989285 0/1:99:238,0,255 . . . 16 10989219 rs2229317 C G NON_SYNONYMOUS_CODING CIITA MODERATE|MISSENSE|Ctg/Gtg|L45V|546|CIITA|protein_coding|CODING|ENST00000381835|exon_16_10989139_10989285 0/1:99:238,0,255 . . . 16 10989219 rs2229317 C G NON_SYNONYMOUS_CODING CIITA MODERATE|MISSENSE|Ctg/Gtg|L45V|884|CIITA|protein_coding|CODING|ENST00000388910|exon_16_10989139_10989285 0/1:99:238,0,255 . . . 16 11348706 rs11549428 C G NON_SYNONYMOUS_CODING SOCS1 MODERATE|MISSENSE|caG/caC|Q210H|211|SOCS1|protein_coding|CODING|ENST00000332029|exon_16_11348262_11349385 . . 0/1:99:225,0,208 . 16 11367446 rs200849593 A G NON_SYNONYMOUS_CODING PRM3 MODERATE|MISSENSE|Tcc/Ccc|S3P|102|PRM3|protein_coding|CODING|ENST00000327157|exon_16_11367144_11367452 . . 0/1:99:108,0,191 . 16 11785747 rs113940175 G C NON_SYNONYMOUS_CODING TXNDC11 MODERATE|MISSENSE|caC/caG|H433Q|958|TXNDC11|protein_coding|CODING|ENST00000283033|exon_16_11785146_11785938 . . . 0/1:99:255,0,158 16 11785747 rs113940175 G C NON_SYNONYMOUS_CODING TXNDC11 MODERATE|MISSENSE|caC/caG|H460Q|985|TXNDC11|protein_coding|CODING|ENST00000356957|exon_16_11785146_11785938 . . . 0/1:99:255,0,158 16 12009457 rs3021065 G A NON_SYNONYMOUS_CODING GSPT1 MODERATE|MISSENSE|Ccg/Tcg|P41S|636|GSPT1|protein_coding|CODING|ENST00000439887|exon_16_12009226_12009735 0/1:70:156,0,67 . 0/1:99:187,0,101 . 16 12009457 rs3021065 G A NON_SYNONYMOUS_CODING GSPT1 MODERATE|MISSENSE|Ccg/Tcg|P41S|637|GSPT1|protein_coding|CODING|ENST00000434724|exon_16_12009226_12009777 0/1:70:156,0,67 . 0/1:99:187,0,101 . 16 12021486 rs145980981 G A NON_SYNONYMOUS_CODING RP11-166B2.1.1 MODERATE|MISSENSE|cCa/cTa|P296L|306|RP11-166B2.1.1|protein_coding|CODING|ENST00000547494|exon_16_12021452_12021736 0/1:87:84,0,211 . . . 16 12021486 rs145980981 G A NON_SYNONYMOUS_CODING RP11-166B2.1.1 MODERATE|MISSENSE|cCa/cTa|P313L|397|RP11-166B2.1.1|protein_coding|CODING|ENST00000399147|exon_16_12021230_12021736 0/1:87:84,0,211 . . . 16 12662395 rs192670414 G A NON_SYNONYMOUS_CODING SNX29 MODERATE|MISSENSE|aGc/aAc|S399N|428|SNX29|protein_coding|CODING|ENST00000306030|exon_16_12662363_12668145 . . . 0/1:72:69,0,214 16 12662395 rs192670414 G A NON_SYNONYMOUS_CODING SNX29 MODERATE|MISSENSE|aGc/aAc|S784N|813|SNX29|protein_coding|CODING|ENST00000566228|exon_16_12662363_12668146 . . . 0/1:72:69,0,214 16 12662448 rs143372184 G A NON_SYNONYMOUS_CODING SNX29 MODERATE|MISSENSE|Gag/Aag|E417K|428|SNX29|protein_coding|CODING|ENST00000306030|exon_16_12662363_12668145 . . 0/1:91:88,0,247 . 16 12662448 rs143372184 G A NON_SYNONYMOUS_CODING SNX29 MODERATE|MISSENSE|Gag/Aag|E802K|813|SNX29|protein_coding|CODING|ENST00000566228|exon_16_12662363_12668146 . . 0/1:91:88,0,247 . 16 14958479 rs149399039 C T NON_SYNONYMOUS_CODING NOMO1 MODERATE|MISSENSE|aCg/aTg|T311M|1100|NOMO1|protein_coding|CODING|ENST00000536948|exon_16_14958442_14958583 0/1:99:255,0,255 . . . 16 14958479 rs149399039 C T NON_SYNONYMOUS_CODING NOMO1 MODERATE|MISSENSE|aCg/aTg|T478M|1222|NOMO1|protein_coding|CODING|ENST00000287667|exon_16_14958442_14958583 0/1:99:255,0,255 . . . 16 14958479 rs149399039 C T NON_SYNONYMOUS_CODING NOMO1 MODERATE|MISSENSE|aCg/aTg|T478M|1267|NOMO1|protein_coding|CODING|ENST00000456867|exon_16_14958442_14958583 0/1:99:255,0,255 . . . 16 14960480 rs141510032 A G NON_SYNONYMOUS_CODING NOMO1 MODERATE|MISSENSE|Atg/Gtg|M413V|1100|NOMO1|protein_coding|CODING|ENST00000536948|exon_16_14960412_14960548 . 0/1:65:62,0,255 . . 16 14960480 rs141510032 A G NON_SYNONYMOUS_CODING NOMO1 MODERATE|MISSENSE|Atg/Gtg|M580V|1222|NOMO1|protein_coding|CODING|ENST00000287667|exon_16_14960412_14960548 . 0/1:65:62,0,255 . . 16 14960480 rs141510032 A G NON_SYNONYMOUS_CODING NOMO1 MODERATE|MISSENSE|Atg/Gtg|M580V|1267|NOMO1|protein_coding|CODING|ENST00000456867|exon_16_14960412_14960548 . 0/1:65:62,0,255 . . 16 15098047 rs11549900 C G NON_SYNONYMOUS_CODING PDXDC1 MODERATE|MISSENSE|atC/atG|I100M|806|PDXDC1|protein_coding|CODING|ENST00000563679|exon_16_15098044_15098190 . . 0/1:99:255,0,255 0/1:99:255,0,255 16 15098047 rs11549900 C G NON_SYNONYMOUS_CODING PDXDC1 MODERATE|MISSENSE|atC/atG|I54M|760|PDXDC1|protein_coding|CODING|ENST00000450288|exon_16_15098044_15098190 . . 0/1:99:255,0,255 0/1:99:255,0,255 16 15098047 rs11549900 C G NON_SYNONYMOUS_CODING PDXDC1 MODERATE|MISSENSE|atC/atG|I55M|761|PDXDC1|protein_coding|CODING|ENST00000569715|exon_16_15098044_15098190 . . 0/1:99:255,0,255 0/1:99:255,0,255 16 15098047 rs11549900 C G NON_SYNONYMOUS_CODING PDXDC1 MODERATE|MISSENSE|atC/atG|I67M|119|PDXDC1|protein_coding|CODING|ENST00000563522|exon_16_15098044_15098190 . . 0/1:99:255,0,255 0/1:99:255,0,255 16 15098047 rs11549900 C G NON_SYNONYMOUS_CODING PDXDC1 MODERATE|MISSENSE|atC/atG|I67M|270|PDXDC1|protein_coding|CODING|ENST00000567306|exon_16_15098044_15098190 . . 0/1:99:255,0,255 0/1:99:255,0,255 16 15098047 rs11549900 C G NON_SYNONYMOUS_CODING PDXDC1 MODERATE|MISSENSE|atC/atG|I67M|773|PDXDC1|protein_coding|CODING|ENST00000325823|exon_16_15098044_15098190 . . 0/1:99:255,0,255 0/1:99:255,0,255 16 15098047 rs11549900 C G NON_SYNONYMOUS_CODING PDXDC1 MODERATE|MISSENSE|atC/atG|I82M|429|PDXDC1|protein_coding|CODING|ENST00000455313|exon_16_15098044_15098190 . . 0/1:99:255,0,255 0/1:99:255,0,255 16 15098047 rs11549900 C G NON_SYNONYMOUS_CODING PDXDC1 MODERATE|MISSENSE|atC/atG|I82M|498|PDXDC1|protein_coding|CODING|ENST00000535621|exon_16_15098044_15098190 . . 0/1:99:255,0,255 0/1:99:255,0,255 16 15098047 rs11549900 C G NON_SYNONYMOUS_CODING PDXDC1 MODERATE|MISSENSE|atC/atG|I82M|788|PDXDC1|protein_coding|CODING|ENST00000396410|exon_16_15098044_15098190 . . 0/1:99:255,0,255 0/1:99:255,0,255 16 15111218 rs4985162 C T NON_SYNONYMOUS_CODING PDXDC1 MODERATE|MISSENSE|cCg/cTg|P210L|697|PDXDC1|protein_coding|CODING|ENST00000447912|exon_16_15111178_15111279 . . 0/1:99:178,0,255 0/1:99:98,0,255 16 15111218 rs4985162 C T NON_SYNONYMOUS_CODING PDXDC1 MODERATE|MISSENSE|cCg/cTg|P263L|270|PDXDC1|protein_coding|CODING|ENST00000567306|exon_16_15111178_15111244 . . 0/1:99:178,0,255 0/1:99:98,0,255 16 15111218 rs4985162 C T NON_SYNONYMOUS_CODING PDXDC1 MODERATE|MISSENSE|cCg/cTg|P273L|760|PDXDC1|protein_coding|CODING|ENST00000450288|exon_16_15111178_15111279 . . 0/1:99:178,0,255 0/1:99:98,0,255 16 15111218 rs4985162 C T NON_SYNONYMOUS_CODING PDXDC1 MODERATE|MISSENSE|cCg/cTg|P274L|761|PDXDC1|protein_coding|CODING|ENST00000569715|exon_16_15111178_15111279 . . 0/1:99:178,0,255 0/1:99:98,0,255 16 15111218 rs4985162 C T NON_SYNONYMOUS_CODING PDXDC1 MODERATE|MISSENSE|cCg/cTg|P278L|429|PDXDC1|protein_coding|CODING|ENST00000455313|exon_16_15111178_15111279 . . 0/1:99:178,0,255 0/1:99:98,0,255 16 15111218 rs4985162 C T NON_SYNONYMOUS_CODING PDXDC1 MODERATE|MISSENSE|cCg/cTg|P286L|773|PDXDC1|protein_coding|CODING|ENST00000325823|exon_16_15111178_15111279 . . 0/1:99:178,0,255 0/1:99:98,0,255 16 15111218 rs4985162 C T NON_SYNONYMOUS_CODING PDXDC1 MODERATE|MISSENSE|cCg/cTg|P301L|498|PDXDC1|protein_coding|CODING|ENST00000535621|exon_16_15111178_15111279 . . 0/1:99:178,0,255 0/1:99:98,0,255 16 15111218 rs4985162 C T NON_SYNONYMOUS_CODING PDXDC1 MODERATE|MISSENSE|cCg/cTg|P301L|788|PDXDC1|protein_coding|CODING|ENST00000396410|exon_16_15111178_15111279 . . 0/1:99:178,0,255 0/1:99:98,0,255 16 15111218 rs4985162 C T NON_SYNONYMOUS_CODING PDXDC1 MODERATE|MISSENSE|cCg/cTg|P319L|806|PDXDC1|protein_coding|CODING|ENST00000563679|exon_16_15111178_15111279 . . 0/1:99:178,0,255 0/1:99:98,0,255 16 15111218 rs4985162 C T NON_SYNONYMOUS_CODING PDXDC1 MODERATE|MISSENSE|cCg/cTg|P7L|204|PDXDC1|protein_coding|CODING|ENST00000537781|exon_16_15111178_15111279 . . 0/1:99:178,0,255 0/1:99:98,0,255 16 15131962 rs1135999 A G NON_SYNONYMOUS_CODING NTAN1 MODERATE|MISSENSE|Tct/Cct|S287P|310|NTAN1|protein_coding|CODING|ENST00000287706|exon_16_15131710_15132067 . . 0/1:99:255,0,229 0/1:99:195,0,255 16 15131974 rs1136001 G T NON_SYNONYMOUS_CODING NTAN1 MODERATE|MISSENSE|Cac/Aac|H283N|310|NTAN1|protein_coding|CODING|ENST00000287706|exon_16_15131710_15132067 . . 0/1:99:255,0,225 0/1:99:185,0,255 16 15185186 rs151006368 C T NON_SYNONYMOUS_CODING RRN3 MODERATE|MISSENSE|Gat/Aat|D47N|618|RRN3|protein_coding|CODING|ENST00000327307|exon_16_15185172_15185228 . . . 0/1:99:216,0,164 16 15185186 rs151006368 C T NON_SYNONYMOUS_CODING RRN3 MODERATE|MISSENSE|Gat/Aat|D80N|305|RRN3|protein_coding|CODING|ENST00000564131|exon_16_15185172_15185228 . . . 0/1:99:216,0,164 16 15185186 rs151006368 C T NON_SYNONYMOUS_CODING RRN3 MODERATE|MISSENSE|Gat/Aat|D80N|621|RRN3|protein_coding|CODING|ENST00000429751|exon_16_15185172_15185228 . . . 0/1:99:216,0,164 16 15185186 rs151006368 C T NON_SYNONYMOUS_CODING RRN3 MODERATE|MISSENSE|Gat/Aat|D80N|638|RRN3|protein_coding|CODING|ENST00000563559|exon_16_15185172_15185228 . . . 0/1:99:216,0,164 16 15185186 rs151006368 C T NON_SYNONYMOUS_CODING RRN3 MODERATE|MISSENSE|Gat/Aat|D80N|651|RRN3|protein_coding|CODING|ENST00000198767|exon_16_15185172_15185228 . . . 0/1:99:216,0,164 16 15222129 rs201434078 G A NON_SYNONYMOUS_CODING NPIPP1 MODERATE|MISSENSE|Ccc/Tcc|P319S|460|NPIPP1|protein_coding|CODING|ENST00000358815|exon_16_15222079_15222246 0/1:99:214,0,157 . . . 16 15224576 rs189177513 T A NON_SYNONYMOUS_CODING NPIPP1 MODERATE|MISSENSE|cAc/cTc|H102L|460|NPIPP1|protein_coding|CODING|ENST00000358815|exon_16_15224492_15224648 . . 0/1:98:95,0,161 . 16 15785049 rs113493697 C T NON_SYNONYMOUS_CODING NDE1 MODERATE|MISSENSE|aCc/aTc|T191I|335|NDE1|protein_coding|CODING|ENST00000342673|exon_16_15785001_15785180 . . . 0/1:99:253,0,127 16 15785049 rs113493697 C T NON_SYNONYMOUS_CODING NDE1 MODERATE|MISSENSE|aCc/aTc|T191I|335|NDE1|protein_coding|CODING|ENST00000396354|exon_16_15785001_15785180 . . . 0/1:99:253,0,127 16 15785049 rs113493697 C T NON_SYNONYMOUS_CODING NDE1 MODERATE|MISSENSE|aCc/aTc|T191I|335|NDE1|protein_coding|CODING|ENST00000396355|exon_16_15785001_15785180 . . . 0/1:99:253,0,127 16 15785049 rs113493697 C T NON_SYNONYMOUS_CODING NDE1 MODERATE|MISSENSE|aCc/aTc|T191I|346|NDE1|protein_coding|CODING|ENST00000396353|exon_16_15785001_15785180 . . . 0/1:99:253,0,127 16 15797967 rs113667224 T A NON_SYNONYMOUS_CODING MYH11 MODERATE|MISSENSE|Acc/Tcc|T1934S|1972|MYH11|protein_coding|CODING|ENST00000300036|exon_16_15796992_15797980 . . . 0/1:99:213,0,255 16 15797967 rs113667224 T A NON_SYNONYMOUS_CODING MYH11 MODERATE|MISSENSE|Acc/Tcc|T1941S|1979|MYH11|protein_coding|CODING|ENST00000396324|exon_16_15796992_15797980 . . . 0/1:99:213,0,255 16 15797967 rs113667224 T A NON_SYNONYMOUS_CODING MYH11 MODERATE|MISSENSE|agA/agT|R1953S|2029|MYH11|protein_coding|CODING|ENST00000396320|exon_16_15796992_15797980 . . . 0/1:99:213,0,255 16 15820863 rs16967494 C T NON_SYNONYMOUS_CODING MYH11 MODERATE|MISSENSE|Gca/Aca|A1234T|1938|MYH11|protein_coding|CODING|ENST00000338282|exon_16_15820705_15820911 0/1:99:239,0,232 0/1:99:242,0,197 0/1:99:239,0,177 . 16 15820863 rs16967494 C T NON_SYNONYMOUS_CODING MYH11 MODERATE|MISSENSE|Gca/Aca|A1234T|1972|MYH11|protein_coding|CODING|ENST00000300036|exon_16_15820705_15820911 0/1:99:239,0,232 0/1:99:242,0,197 0/1:99:239,0,177 . 16 15820863 rs16967494 C T NON_SYNONYMOUS_CODING MYH11 MODERATE|MISSENSE|Gca/Aca|A1241T|1945|MYH11|protein_coding|CODING|ENST00000452625|exon_16_15820705_15820911 0/1:99:239,0,232 0/1:99:242,0,197 0/1:99:239,0,177 . 16 15820863 rs16967494 C T NON_SYNONYMOUS_CODING MYH11 MODERATE|MISSENSE|Gca/Aca|A1241T|1979|MYH11|protein_coding|CODING|ENST00000396324|exon_16_15820705_15820911 0/1:99:239,0,232 0/1:99:242,0,197 0/1:99:239,0,177 . 16 15820863 rs16967494 C T NON_SYNONYMOUS_CODING MYH11 MODERATE|MISSENSE|Gca/Aca|A1241T|2029|MYH11|protein_coding|CODING|ENST00000396320|exon_16_15820705_15820911 0/1:99:239,0,232 0/1:99:242,0,197 0/1:99:239,0,177 . 16 16272818 rs72653786 A T NON_SYNONYMOUS_CODING ABCC6 MODERATE|MISSENSE|aTg/aAg|M751K|1503|ABCC6|protein_coding|CODING|ENST00000205557|exon_16_16272655_16272822 . . . 0/1:99:251,0,255 16 16272818 rs72653786 A T NON_SYNONYMOUS_CODING ABCC6 MODERATE|MISSENSE|aTg/aAg|M751K|871|ABCC6|protein_coding|CODING|ENST00000456970|exon_16_16272655_16272822 . . . 0/1:99:251,0,255 16 19548900 . A G NON_SYNONYMOUS_CODING CCP110 MODERATE|MISSENSE|Agt/Ggt|S637G|1012|CCP110|protein_coding|CODING|ENST00000381396|exon_16_19547262_19548909 . . . 0/1:99:255,0,255 16 19548900 . A G NON_SYNONYMOUS_CODING CCP110 MODERATE|MISSENSE|Agt/Ggt|S637G|991|CCP110|protein_coding|CODING|ENST00000396208|exon_16_19547262_19548909 . . . 0/1:99:255,0,255 16 19548900 . A G NON_SYNONYMOUS_CODING CCP110 MODERATE|MISSENSE|Agt/Ggt|S637G|991|CCP110|protein_coding|CODING|ENST00000396212|exon_16_19547262_19548909 . . . 0/1:99:255,0,255 16 20429546 rs144548629 C T NON_SYNONYMOUS_CODING ACSM5 MODERATE|MISSENSE|Cgg/Tgg|R124W|579|ACSM5|protein_coding|CODING|ENST00000331849|exon_16_20429381_20429591 . . . 0/1:99:182,0,246 16 20471450 rs59292608 G A NON_SYNONYMOUS_CODING ACSM2A MODERATE|MISSENSE|cGa/cAa|R5Q|208|ACSM2A|protein_coding|CODING|ENST00000424070|exon_16_20471429_20471613 . 0/1:99:229,0,255 . . 16 20471450 rs59292608 G A NON_SYNONYMOUS_CODING ACSM2A MODERATE|MISSENSE|cGa/cAa|R5Q|577|ACSM2A|protein_coding|CODING|ENST00000219054|exon_16_20471429_20471613 . 0/1:99:229,0,255 . . 16 20471450 rs59292608 G A NON_SYNONYMOUS_CODING ACSM2A MODERATE|MISSENSE|cGa/cAa|R5Q|577|ACSM2A|protein_coding|CODING|ENST00000396104|exon_16_20471426_20471613 . 0/1:99:229,0,255 . . 16 20959918 rs2301620 G A NON_SYNONYMOUS_CODING DNAH3 MODERATE|MISSENSE|Cgg/Tgg|R3744W|4116|DNAH3|protein_coding|CODING|ENST00000261383|exon_16_20959805_20959959 0/1:99:255,0,255 . . . 16 20966273 rs12924551 G A NON_SYNONYMOUS_CODING DNAH3 MODERATE|MISSENSE|Cgc/Tgc|R3645C|4116|DNAH3|protein_coding|CODING|ENST00000261383|exon_16_20966135_20966379 0/1:99:255,0,222 . . . 16 20966362 rs34051490 T C NON_SYNONYMOUS_CODING DNAH3 MODERATE|MISSENSE|tAt/tGt|Y3615C|4116|DNAH3|protein_coding|CODING|ENST00000261383|exon_16_20966135_20966379 0/1:99:232,0,205 . . . 16 20976360 rs33928718 T G NON_SYNONYMOUS_CODING DNAH3 MODERATE|MISSENSE|aAg/aCg|K2949T|4116|DNAH3|protein_coding|CODING|ENST00000261383|exon_16_20974606_20976747 0/1:99:255,0,255 . . . 16 21132298 rs13330317 T C NON_SYNONYMOUS_CODING DNAH3 MODERATE|MISSENSE|Act/Gct|T39A|153|DNAH3|protein_coding|CODING|ENST00000544558|exon_16_21131081_21132910 . . 0/1:99:237,0,202 . 16 21151913 rs72780891 G T NON_SYNONYMOUS_CODING DNAH3 MODERATE|MISSENSE|Cag/Aag|Q185K|753|DNAH3|protein_coding|CODING|ENST00000396036|exon_16_21151857_21152031 . . 0/1:99:243,0,255 . 16 21151913 rs72780891 G T NON_SYNONYMOUS_CODING DNAH3 MODERATE|MISSENSE|Cag/Aag|Q214K|1887|DNAH3|protein_coding|CODING|ENST00000415178|exon_16_21151857_21152031 . . 0/1:99:243,0,255 . 16 21151913 rs72780891 G T NON_SYNONYMOUS_CODING DNAH3 MODERATE|MISSENSE|Cag/Aag|Q214K|4116|DNAH3|protein_coding|CODING|ENST00000261383|exon_16_21151857_21152031 . . 0/1:99:243,0,255 . 16 21213290 rs149014575 A T NON_SYNONYMOUS_CODING ZP2 MODERATE|MISSENSE|Ttt/Att|F448I|745|ZP2|protein_coding|CODING|ENST00000219593|exon_16_21213253_21213344 0/1:99:255,0,255 . . . 16 21214536 . C T NON_SYNONYMOUS_CODING ZP2 MODERATE|MISSENSE|Gct/Act|A337T|745|ZP2|protein_coding|CODING|ENST00000219593|exon_16_21214446_21214572 0/1:99:243,0,255 . . . 16 22319517 rs2347 T G NON_SYNONYMOUS_CODING POLR3E MODERATE|MISSENSE|Tca/Gca|S10A|98|POLR3E|protein_coding|CODING|ENST00000563024|exon_16_22319469_22319546 . 0/1:99:213,0,176 . . 16 22319517 rs2347 T G NON_SYNONYMOUS_CODING POLR3E MODERATE|MISSENSE|Tca/Gca|S46A|109|POLR3E|protein_coding|CODING|ENST00000564883|exon_16_22319469_22319546 . 0/1:99:213,0,176 . . 16 22319517 rs2347 T G NON_SYNONYMOUS_CODING POLR3E MODERATE|MISSENSE|Tca/Gca|S46A|666|POLR3E|protein_coding|CODING|ENST00000359210|exon_16_22319469_22319546 . 0/1:99:213,0,176 . . 16 22319517 rs2347 T G NON_SYNONYMOUS_CODING POLR3E MODERATE|MISSENSE|Tca/Gca|S46A|687|POLR3E|protein_coding|CODING|ENST00000564209|exon_16_22319469_22319546 . 0/1:99:213,0,176 . . 16 22319517 rs2347 T G NON_SYNONYMOUS_CODING POLR3E MODERATE|MISSENSE|Tca/Gca|S46A|708|POLR3E|protein_coding|CODING|ENST00000299853|exon_16_22319469_22319546 . 0/1:99:213,0,176 . . 16 22319517 rs2347 T G NON_SYNONYMOUS_CODING POLR3E MODERATE|MISSENSE|Tca/Gca|S52A|138|POLR3E|protein_coding|CODING|ENST00000565358|exon_16_22319469_22319546 . 0/1:99:213,0,176 . . 16 23409440 rs16940094 G A NON_SYNONYMOUS_CODING COG7 MODERATE|MISSENSE|aCg/aTg|T605M|770|COG7|protein_coding|CODING|ENST00000307149|exon_16_23409367_23409450 0/1:99:218,0,200 . . . 16 23724514 . C T NON_SYNONYMOUS_CODING ERN2 MODERATE|MISSENSE|Ggc/Agc|G47S|974|ERN2|protein_coding|CODING|ENST00000256797|exon_16_23724416_23724821 . 0/1:99:255,0,138 . . 16 24583712 . TAAAGAGAA TAA CODON_CHANGE_PLUS_CODON_DELETION RBBP6 MODERATE||aaagagaag/aag|KEK1609K|1625|RBBP6|protein_coding|CODING|ENST00000562430|exon_16_24582197_24584181 . 0/1:99:184,0,255 . . 16 24583712 . TAAAGAGAA TAA CODON_CHANGE_PLUS_CODON_DELETION RBBP6 MODERATE||aaagagaag/aag|KEK1742K|1758|RBBP6|protein_coding|CODING|ENST00000348022|exon_16_24582197_24584184 . 0/1:99:184,0,255 . . 16 24583712 . TAAAGAGAA TAA CODON_CHANGE_PLUS_CODON_DELETION RBBP6 MODERATE||aaagagaag/aag|KEK1776K|1792|RBBP6|protein_coding|CODING|ENST00000319715|exon_16_24582197_24584184 . 0/1:99:184,0,255 . . 16 24583712 . TAAAGAGAA TAA CODON_CHANGE_PLUS_CODON_DELETION RBBP6 MODERATE||aaagagaag/aag|KEK936K|952|RBBP6|protein_coding|CODING|ENST00000381039|exon_16_24582197_24584184 . 0/1:99:184,0,255 . . 16 24802347 rs35474263 C A NON_SYNONYMOUS_CODING TNRC6A MODERATE|MISSENSE|tCc/tAc|S795Y|1913|TNRC6A|protein_coding|CODING|ENST00000315183|exon_16_24800553_24803138 . . 0/1:99:248,0,242 . 16 24802347 rs35474263 C A NON_SYNONYMOUS_CODING TNRC6A MODERATE|MISSENSE|tCc/tAc|S795Y|1962|TNRC6A|protein_coding|CODING|ENST00000395799|exon_16_24800553_24803138 . . 0/1:99:248,0,242 . 16 24902299 rs35993597 C G NON_SYNONYMOUS_CODING SLC5A11 MODERATE|MISSENSE|ttC/ttG|F188L|605|SLC5A11|protein_coding|CODING|ENST00000545376|exon_16_24902190_24902395 . . 0/1:99:255,0,249 . 16 24902299 rs35993597 C G NON_SYNONYMOUS_CODING SLC5A11 MODERATE|MISSENSE|ttC/ttG|F188L|605|SLC5A11|protein_coding|CODING|ENST00000568579|exon_16_24902190_24902395 . . 0/1:99:255,0,249 . 16 24902299 rs35993597 C G NON_SYNONYMOUS_CODING SLC5A11 MODERATE|MISSENSE|ttC/ttG|F194L|611|SLC5A11|protein_coding|CODING|ENST00000539472|exon_16_24902190_24902395 . . 0/1:99:255,0,249 . 16 24902299 rs35993597 C G NON_SYNONYMOUS_CODING SLC5A11 MODERATE|MISSENSE|ttC/ttG|F194L|611|SLC5A11|protein_coding|CODING|ENST00000565769|exon_16_24902190_24902395 . . 0/1:99:255,0,249 . 16 24902299 rs35993597 C G NON_SYNONYMOUS_CODING SLC5A11 MODERATE|MISSENSE|ttC/ttG|F223L|640|SLC5A11|protein_coding|CODING|ENST00000424767|exon_16_24902190_24902395 . . 0/1:99:255,0,249 . 16 24902299 rs35993597 C G NON_SYNONYMOUS_CODING SLC5A11 MODERATE|MISSENSE|ttC/ttG|F223L|640|SLC5A11|protein_coding|CODING|ENST00000567758|exon_16_24902190_24902395 . . 0/1:99:255,0,249 . 16 24902299 rs35993597 C G NON_SYNONYMOUS_CODING SLC5A11 MODERATE|MISSENSE|ttC/ttG|F258L|675|SLC5A11|protein_coding|CODING|ENST00000347898|exon_16_24902190_24902395 . . 0/1:99:255,0,249 . 16 25258225 rs143300766 C T NON_SYNONYMOUS_CODING ZKSCAN2 MODERATE|MISSENSE|cGt/cAt|R431H|836|ZKSCAN2|protein_coding|CODING|ENST00000536768|exon_16_25258028_25258711 . 0/1:99:220,0,230 . . 16 25258225 rs143300766 C T NON_SYNONYMOUS_CODING ZKSCAN2 MODERATE|MISSENSE|cGt/cAt|R431H|967|ZKSCAN2|protein_coding|CODING|ENST00000328086|exon_16_25258028_25258711 . 0/1:99:220,0,230 . . 16 27445755 rs137946070 C T NON_SYNONYMOUS_CODING IL21R MODERATE|MISSENSE|aCg/aTg|T46M|538|IL21R|protein_coding|CODING|ENST00000337929|exon_16_27445668_27445770 . . . 0/1:99:215,0,137 16 27445755 rs137946070 C T NON_SYNONYMOUS_CODING IL21R MODERATE|MISSENSE|aCg/aTg|T46M|538|IL21R|protein_coding|CODING|ENST00000395754|exon_16_27445668_27445770 . . . 0/1:99:215,0,137 16 27445755 rs137946070 C T NON_SYNONYMOUS_CODING IL21R MODERATE|MISSENSE|aCg/aTg|T46M|538|IL21R|protein_coding|CODING|ENST00000395755|exon_16_27445668_27445770 . . . 0/1:99:215,0,137 16 27445755 rs137946070 C T NON_SYNONYMOUS_CODING IL21R MODERATE|MISSENSE|aCg/aTg|T46M|538|IL21R|protein_coding|CODING|ENST00000564089|exon_16_27445668_27445770 . . . 0/1:99:215,0,137 16 27761040 rs61734902 C T NON_SYNONYMOUS_CODING KIAA0556 MODERATE|MISSENSE|cCg/cTg|P920L|1618|KIAA0556|protein_coding|CODING|ENST00000261588|exon_16_27760905_27761627 0/1:99:248,0,254 . . 0/1:97:94,0,170 16 27772821 rs55953014 C T NON_SYNONYMOUS_CODING KIAA0556 MODERATE|MISSENSE|gCg/gTg|A1240V|1618|KIAA0556|protein_coding|CODING|ENST00000261588|exon_16_27772734_27772911 . . . 0/1:99:153,0,236 16 28354353 rs1794256 T G NON_SYNONYMOUS_CODING RP11-57A19.3.1 MODERATE|MISSENSE|Act/Cct|T267P|407|RP11-57A19.3.1|protein_coding|CODING|ENST00000533640|exon_16_28353876_28354509 1/1:93:100,48,0 . 1/1:99:160,63,0 . 16 28354353 rs1794256 T G NON_SYNONYMOUS_CODING RP11-57A19.3.1 MODERATE|MISSENSE|Act/Cct|T285P|425|RP11-57A19.3.1|protein_coding|CODING|ENST00000532254|exon_16_28353876_28354509 1/1:93:100,48,0 . 1/1:99:160,63,0 . 16 28354457 rs201118010 G A NON_SYNONYMOUS_CODING RP11-57A19.3.1 MODERATE|MISSENSE|cCc/cTc|P232L|407|RP11-57A19.3.1|protein_coding|CODING|ENST00000533640|exon_16_28353876_28354509 1/1:61:88,32,0 . 1/1:68:70,37,0 . 16 28354457 rs201118010 G A NON_SYNONYMOUS_CODING RP11-57A19.3.1 MODERATE|MISSENSE|cCc/cTc|P250L|425|RP11-57A19.3.1|protein_coding|CODING|ENST00000532254|exon_16_28353876_28354509 1/1:61:88,32,0 . 1/1:68:70,37,0 . 16 28488943 rs77595156 T C NON_SYNONYMOUS_CODING CLN3 MODERATE|MISSENSE|cAc/cGc|H304R|338|CLN3|protein_coding|CODING|ENST00000395653|exon_16_28488682_28488956 . . . 0/1:99:120,0,255 16 28488943 rs77595156 T C NON_SYNONYMOUS_CODING CLN3 MODERATE|MISSENSE|cAc/cGc|H305R|339|CLN3|protein_coding|CODING|ENST00000357806|exon_16_28488612_28488956 . . . 0/1:99:120,0,255 16 28488943 rs77595156 T C NON_SYNONYMOUS_CODING CLN3 MODERATE|MISSENSE|cAc/cGc|H307R|341|CLN3|protein_coding|CODING|ENST00000567963|exon_16_28488650_28488956 . . . 0/1:99:120,0,255 16 28488943 rs77595156 T C NON_SYNONYMOUS_CODING CLN3 MODERATE|MISSENSE|cAc/cGc|H326R|360|CLN3|protein_coding|CODING|ENST00000535392|exon_16_28488785_28488956 . . . 0/1:99:120,0,255 16 28488943 rs77595156 T C NON_SYNONYMOUS_CODING CLN3 MODERATE|MISSENSE|cAc/cGc|H350R|384|CLN3|protein_coding|CODING|ENST00000357857|exon_16_28488650_28488956 . . . 0/1:99:120,0,255 16 28488943 rs77595156 T C NON_SYNONYMOUS_CODING CLN3 MODERATE|MISSENSE|cAc/cGc|H356R|390|CLN3|protein_coding|CODING|ENST00000355477|exon_16_28488601_28488956 . . . 0/1:99:120,0,255 16 28488943 rs77595156 T C NON_SYNONYMOUS_CODING CLN3 MODERATE|MISSENSE|cAc/cGc|H380R|414|CLN3|protein_coding|CODING|ENST00000333496|exon_16_28488601_28488956 . . . 0/1:99:120,0,255 16 28488943 rs77595156 T C NON_SYNONYMOUS_CODING CLN3 MODERATE|MISSENSE|cAc/cGc|H387R|421|CLN3|protein_coding|CODING|ENST00000354630|exon_16_28488601_28488956 . . . 0/1:99:120,0,255 16 28488943 rs77595156 T C NON_SYNONYMOUS_CODING CLN3 MODERATE|MISSENSE|cAc/cGc|H387R|421|CLN3|protein_coding|CODING|ENST00000565316|exon_16_28488837_28488956 . . . 0/1:99:120,0,255 16 28488943 rs77595156 T C NON_SYNONYMOUS_CODING CLN3 MODERATE|MISSENSE|cAc/cGc|H404R|438|CLN3|protein_coding|CODING|ENST00000359984|exon_16_28488600_28488956 . . . 0/1:99:120,0,255 16 28488943 rs77595156 T C NON_SYNONYMOUS_CODING CLN3 MODERATE|MISSENSE|cAc/cGc|H404R|438|CLN3|protein_coding|CODING|ENST00000360019|exon_16_28488600_28488956 . . . 0/1:99:120,0,255 16 28488943 rs77595156 T C NON_SYNONYMOUS_CODING CLN3 MODERATE|MISSENSE|cAc/cGc|H404R|438|CLN3|protein_coding|CODING|ENST00000569430|exon_16_28488600_28488956 . . . 0/1:99:120,0,255 16 28606960 rs4987024 T A NON_SYNONYMOUS_CODING SULT1A2 MODERATE|MISSENSE|tAc/tTc|Y62F|191|SULT1A2|protein_coding|CODING|ENST00000526384|exon_16_28606871_28606996 . . 0/1:99:238,0,237 . 16 28606960 rs4987024 T A NON_SYNONYMOUS_CODING SULT1A2 MODERATE|MISSENSE|tAc/tTc|Y62F|262|SULT1A2|protein_coding|CODING|ENST00000533150|exon_16_28606688_28606996 . . 0/1:99:238,0,237 . 16 28606960 rs4987024 T A NON_SYNONYMOUS_CODING SULT1A2 MODERATE|MISSENSE|tAc/tTc|Y62F|295|SULT1A2|protein_coding|CODING|ENST00000335715|exon_16_28606871_28606996 . . 0/1:99:238,0,237 . 16 28606960 rs4987024 T A NON_SYNONYMOUS_CODING SULT1A2 MODERATE|MISSENSE|tAc/tTc|Y62F|295|SULT1A2|protein_coding|CODING|ENST00000395630|exon_16_28606871_28606996 . . 0/1:99:238,0,237 . 16 28607196 rs10797300 G A NON_SYNONYMOUS_CODING SULT1A2 MODERATE|MISSENSE|cCg/cTg|P19L|191|SULT1A2|protein_coding|CODING|ENST00000526384|exon_16_28607104_28607286 . . . 0/1:99:197,0,118 16 28607196 rs10797300 G A NON_SYNONYMOUS_CODING SULT1A2 MODERATE|MISSENSE|cCg/cTg|P19L|262|SULT1A2|protein_coding|CODING|ENST00000533150|exon_16_28607104_28608368 . . . 0/1:99:197,0,118 16 28607196 rs10797300 G A NON_SYNONYMOUS_CODING SULT1A2 MODERATE|MISSENSE|cCg/cTg|P19L|295|SULT1A2|protein_coding|CODING|ENST00000335715|exon_16_28607104_28607255 . . . 0/1:99:197,0,118 16 28607196 rs10797300 G A NON_SYNONYMOUS_CODING SULT1A2 MODERATE|MISSENSE|cCg/cTg|P19L|295|SULT1A2|protein_coding|CODING|ENST00000395630|exon_16_28607104_28607255 . . . 0/1:99:197,0,118 16 28617514 rs9282861 C T NON_SYNONYMOUS_CODING SULT1A1 MODERATE|MISSENSE|cGc/cAc|R135H|217|SULT1A1|protein_coding|CODING|ENST00000350842|exon_16_28617377_28617557 1/1:45:106,24,0 . . . 16 28617514 rs9282861 C T NON_SYNONYMOUS_CODING SULT1A1 MODERATE|MISSENSE|cGc/cAc|R213H|280|SULT1A1|protein_coding|CODING|ENST00000566189|exon_16_28617377_28617557 1/1:45:106,24,0 . . . 16 28617514 rs9282861 C T NON_SYNONYMOUS_CODING SULT1A1 MODERATE|MISSENSE|cGc/cAc|R213H|295|SULT1A1|protein_coding|CODING|ENST00000314752|exon_16_28617377_28617557 1/1:45:106,24,0 . . . 16 28617514 rs9282861 C T NON_SYNONYMOUS_CODING SULT1A1 MODERATE|MISSENSE|cGc/cAc|R213H|295|SULT1A1|protein_coding|CODING|ENST00000395607|exon_16_28617377_28617557 1/1:45:106,24,0 . . . 16 28617514 rs9282861 C T NON_SYNONYMOUS_CODING SULT1A1 MODERATE|MISSENSE|cGc/cAc|R213H|295|SULT1A1|protein_coding|CODING|ENST00000395609|exon_16_28617377_28617557 1/1:45:106,24,0 . . . 16 28617514 rs9282861 C T NON_SYNONYMOUS_CODING SULT1A1 MODERATE|MISSENSE|cGc/cAc|R213H|295|SULT1A1|protein_coding|CODING|ENST00000569554|exon_16_28617377_28617557 1/1:45:106,24,0 . . . 16 29063558 rs201816426 C G NON_SYNONYMOUS_CODING CTB-134H23.2.1 MODERATE|MISSENSE|Ctg/Gtg|L270V|431|CTB-134H23.2.1|protein_coding|CODING|ENST00000424293|exon_16_29063393_29064047 0/1:86:86,0,86 . . . 16 29393609 . C G NON_SYNONYMOUS_CODING RP11-231C14.2.1 MODERATE|MISSENSE|Ggg/Cgg|G882R|1161|RP11-231C14.2.1|protein_coding|CODING|ENST00000524087|exon_16_29392675_29395610 0/1:99:131,0,223 . . . 16 29825022 rs76335820 C T NON_SYNONYMOUS_CODING PRRT2 MODERATE|MISSENSE|cCc/cTc|P216L|299|PRRT2|protein_coding|CODING|ENST00000300797|exon_16_29824311_29827201 . . . 0/1:73:149,0,70 16 29825022 rs76335820 C T NON_SYNONYMOUS_CODING PRRT2 MODERATE|MISSENSE|cCc/cTc|P216L|340|PRRT2|protein_coding|CODING|ENST00000358758|exon_16_29824311_29825254 . . . 0/1:73:149,0,70 16 29825022 rs76335820 C T NON_SYNONYMOUS_CODING PRRT2 MODERATE|MISSENSE|cCc/cTc|P216L|394|PRRT2|protein_coding|CODING|ENST00000567659|exon_16_29824311_29825254 . . . 0/1:73:149,0,70 16 30036943 . G C NON_SYNONYMOUS_CODING FAM57B MODERATE|MISSENSE|cCc/cGc|P165R|170|FAM57B|protein_coding|CODING|ENST00000564806|exon_16_30035773_30037142 . . . 0/1:75:72,0,127 16 30106716 rs184524218 C A NON_SYNONYMOUS_CODING YPEL3 MODERATE|MISSENSE|Gtg/Ttg|V30L|137|YPEL3|protein_coding|CODING|ENST00000562641|exon_16_30106573_30107333 . 0/1:99:167,0,177 . . 16 30106716 rs184524218 C A NON_SYNONYMOUS_CODING YPEL3 MODERATE|MISSENSE|Gtg/Ttg|V30L|157|YPEL3|protein_coding|CODING|ENST00000398841|exon_16_30106573_30107521 . 0/1:99:167,0,177 . . 16 30364805 rs13330462 C T NON_SYNONYMOUS_CODING CD2BP2 MODERATE|MISSENSE|gGt/gAt|G231D|341|CD2BP2|protein_coding|CODING|ENST00000305596|exon_16_30364689_30365121 0/1:99:164,0,238 . . . 16 30364805 rs13330462 C T NON_SYNONYMOUS_CODING CD2BP2 MODERATE|MISSENSE|gGt/gAt|G231D|341|CD2BP2|protein_coding|CODING|ENST00000569466|exon_16_30364689_30365121 0/1:99:164,0,238 . . . 16 30365335 rs139111996 T A NON_SYNONYMOUS_CODING CD2BP2 MODERATE|MISSENSE|Aca/Tca|T88S|341|CD2BP2|protein_coding|CODING|ENST00000305596|exon_16_30365222_30365379 . 0/1:99:255,0,128 . . 16 30365335 rs139111996 T A NON_SYNONYMOUS_CODING CD2BP2 MODERATE|MISSENSE|Aca/Tca|T88S|341|CD2BP2|protein_coding|CODING|ENST00000569466|exon_16_30365222_30365379 . 0/1:99:255,0,128 . . 16 30409241 rs34843513 A G NON_SYNONYMOUS_CODING ZNF48 MODERATE|MISSENSE|Ata/Gta|I224V|618|ZNF48|protein_coding|CODING|ENST00000320159|exon_16_30408651_30411429 0/1:99:249,0,255 . . . 16 30409241 rs34843513 A G NON_SYNONYMOUS_CODING ZNF48 MODERATE|MISSENSE|Ata/Gta|I349V|743|ZNF48|protein_coding|CODING|ENST00000495929|exon_16_30408651_30410681 0/1:99:249,0,255 . . . 16 30536916 rs61735343 T C NON_SYNONYMOUS_CODING ZNF768 MODERATE|MISSENSE|gAa/gGa|E151G|453|ZNF768|protein_coding|CODING|ENST00000538507|exon_16_30536621_30537372 0/1:99:255,0,226 . . . 16 30536916 rs61735343 T C NON_SYNONYMOUS_CODING ZNF768 MODERATE|MISSENSE|gAa/gGa|E182G|540|ZNF768|protein_coding|CODING|ENST00000380412|exon_16_30535325_30537372 0/1:99:255,0,226 . . . 16 30566747 rs17850402 G A NON_SYNONYMOUS_CODING ZNF764 MODERATE|MISSENSE|gCc/gTc|A331V|407|ZNF764|protein_coding|CODING|ENST00000395091|exon_16_30565085_30567428 0/1:99:207,0,147 . . 0/1:99:153,0,205 16 30566747 rs17850402 G A NON_SYNONYMOUS_CODING ZNF764 MODERATE|MISSENSE|gCc/gTc|A332V|408|ZNF764|protein_coding|CODING|ENST00000252797|exon_16_30565085_30567431 0/1:99:207,0,147 . . 0/1:99:153,0,205 16 30567326 rs115131694 G A NON_SYNONYMOUS_CODING ZNF764 MODERATE|MISSENSE|gCc/gTc|A138V|407|ZNF764|protein_coding|CODING|ENST00000395091|exon_16_30565085_30567428 0/1:99:246,0,255 . . . 16 30567326 rs115131694 G A NON_SYNONYMOUS_CODING ZNF764 MODERATE|MISSENSE|gCc/gTc|A139V|408|ZNF764|protein_coding|CODING|ENST00000252797|exon_16_30565085_30567431 0/1:99:246,0,255 . . . 16 30569349 rs61744716 C T NON_SYNONYMOUS_CODING ZNF764 MODERATE|MISSENSE|cGg/cAg|R52Q|407|ZNF764|protein_coding|CODING|ENST00000395091|exon_16_30569308_30569819 . . . 0/1:99:162,0,226 16 30569349 rs61744716 C T NON_SYNONYMOUS_CODING ZNF764 MODERATE|MISSENSE|cGg/cAg|R52Q|408|ZNF764|protein_coding|CODING|ENST00000252797|exon_16_30569308_30569584 . . . 0/1:99:162,0,226 16 30569349 rs61744716 C T NON_SYNONYMOUS_CODING AC002310.13.1 MODERATE|MISSENSE|cGg/cAg|R52Q|92|AC002310.13.1|protein_coding|CODING|ENST00000568114|exon_16_30569308_30569600 . . . 0/1:99:162,0,226 16 30666396 . A C NON_SYNONYMOUS_CODING PRR14 MODERATE|MISSENSE|Atg/Ctg|M369L|585|PRR14|protein_coding|CODING|ENST00000300835|exon_16_30665950_30666535 0/1:64:61,0,255 . . . 16 30666396 . A C NON_SYNONYMOUS_CODING PRR14 MODERATE|MISSENSE|Atg/Ctg|M369L|585|PRR14|protein_coding|CODING|ENST00000542965|exon_16_30665950_30666535 0/1:64:61,0,255 . . . 16 30673889 rs61997235 C A NON_SYNONYMOUS_CODING FBRS MODERATE|MISSENSE|cCc/cAc|P255H|980|FBRS|protein_coding|CODING|ENST00000356166|exon_16_30673880_30674180 . . . 0/1:99:140,0,240 16 30680655 rs61738568 G A NON_SYNONYMOUS_CODING FBRS MODERATE|MISSENSE|Ggc/Agc|G270S|372|FBRS|protein_coding|CODING|ENST00000568722|exon_16_30680390_30682130 . . . 0/1:99:148,0,144 16 30680655 rs61738568 G A NON_SYNONYMOUS_CODING FBRS MODERATE|MISSENSE|Ggc/Agc|G270S|399|FBRS|protein_coding|CODING|ENST00000395073|exon_16_30680390_30680864 . . . 0/1:99:148,0,144 16 30680655 rs61738568 G A NON_SYNONYMOUS_CODING FBRS MODERATE|MISSENSE|Ggc/Agc|G358S|460|FBRS|protein_coding|CODING|ENST00000287468|exon_16_30680390_30682131 . . . 0/1:99:148,0,144 16 30680655 rs61738568 G A NON_SYNONYMOUS_CODING FBRS MODERATE|MISSENSE|Ggc/Agc|G878S|980|FBRS|protein_coding|CODING|ENST00000356166|exon_16_30680390_30681934 . . . 0/1:99:148,0,144 16 30732558 rs149248373 C A NON_SYNONYMOUS_CODING SRCAP MODERATE|MISSENSE|aCg/aAg|T1101K|3168|SRCAP|protein_coding|CODING|ENST00000395059|exon_16_30732510_30732797 . 0/1:99:205,0,250 . . 16 30732558 rs149248373 C A NON_SYNONYMOUS_CODING SRCAP MODERATE|MISSENSE|aCg/aAg|T1101K|3230|SRCAP|protein_coding|CODING|ENST00000262518|exon_16_30732510_30732797 . 0/1:99:205,0,250 . . 16 30770950 rs62622830 T C NON_SYNONYMOUS_CODING C16orf93 MODERATE|MISSENSE|Aaa/Gaa|K189E|396|C16orf93|protein_coding|CODING|ENST00000541260|exon_16_30770663_30771045 0/1:99:250,0,249 . . 0/1:99:196,0,249 16 30772988 rs201918052 C T NON_SYNONYMOUS_CODING C16orf93 MODERATE|MISSENSE|Gcg/Acg|A28T|177|C16orf93|protein_coding|CODING|ENST00000545825|exon_16_30772866_30773399 . . . 0/1:99:209,0,184 16 30772988 rs201918052 C T NON_SYNONYMOUS_CODING C16orf93 MODERATE|MISSENSE|Gcg/Acg|A28T|331|C16orf93|protein_coding|CODING|ENST00000543610|exon_16_30772866_30774031 . . . 0/1:99:209,0,184 16 30772988 rs201918052 C T NON_SYNONYMOUS_CODING C16orf93 MODERATE|MISSENSE|Gcg/Acg|A28T|396|C16orf93|protein_coding|CODING|ENST00000541260|exon_16_30772866_30773400 . . . 0/1:99:209,0,184 16 31072909 rs8046978 G A NON_SYNONYMOUS_CODING AC135050.1 MODERATE|MISSENSE|Gcc/Acc|A33T|212|AC135050.1|protein_coding|CODING|ENST00000417110|exon_16_31072813_31073451 0/1:99:142,0,166 0/1:99:164,0,236 0/1:99:176,0,209 0/1:99:208,0,154 16 31072909 rs8046978 G A NON_SYNONYMOUS_CODING ZNF668 MODERATE|MISSENSE|gCa/gTa|A447V|619|ZNF668|protein_coding|CODING|ENST00000300849|exon_16_31072171_31073601 0/1:99:142,0,166 0/1:99:164,0,236 0/1:99:176,0,209 0/1:99:208,0,154 16 31072909 rs8046978 G A NON_SYNONYMOUS_CODING ZNF668 MODERATE|MISSENSE|gCa/gTa|A447V|619|ZNF668|protein_coding|CODING|ENST00000394983|exon_16_31072171_31073601 0/1:99:142,0,166 0/1:99:164,0,236 0/1:99:176,0,209 0/1:99:208,0,154 16 31072909 rs8046978 G A NON_SYNONYMOUS_CODING ZNF668 MODERATE|MISSENSE|gCa/gTa|A447V|619|ZNF668|protein_coding|CODING|ENST00000535577|exon_16_31072164_31073601 0/1:99:142,0,166 0/1:99:164,0,236 0/1:99:176,0,209 0/1:99:208,0,154 16 31072909 rs8046978 G A NON_SYNONYMOUS_CODING ZNF668 MODERATE|MISSENSE|gCa/gTa|A447V|619|ZNF668|protein_coding|CODING|ENST00000538906|exon_16_31072169_31073601 0/1:99:142,0,166 0/1:99:164,0,236 0/1:99:176,0,209 0/1:99:208,0,154 16 31072909 rs8046978 G A NON_SYNONYMOUS_CODING ZNF668 MODERATE|MISSENSE|gCa/gTa|A470V|642|ZNF668|protein_coding|CODING|ENST00000426488|exon_16_31072169_31073601 0/1:99:142,0,166 0/1:99:164,0,236 0/1:99:176,0,209 0/1:99:208,0,154 16 31072909 rs8046978 G A NON_SYNONYMOUS_CODING ZNF668 MODERATE|MISSENSE|gCa/gTa|A470V|642|ZNF668|protein_coding|CODING|ENST00000539836|exon_16_31072172_31073601 0/1:99:142,0,166 0/1:99:164,0,236 0/1:99:176,0,209 0/1:99:208,0,154 16 31142271 rs17855606 A G NON_SYNONYMOUS_CODING KAT8 MODERATE|MISSENSE|atA/atG|I454M|467|KAT8|protein_coding|CODING|ENST00000448516|exon_16_31142067_31142680 0/1:99:190,0,225 0/1:99:126,0,255 0/1:99:228,0,191 1/1:99:255,57,0 16 31289396 rs1143680 T C NON_SYNONYMOUS_CODING ITGAM MODERATE|MISSENSE|aTg/aCg|M441T|1152|ITGAM|protein_coding|CODING|ENST00000287497|exon_16_31289288_31289430 . . 0/1:99:208,0,155 . 16 31289396 rs1143680 T C NON_SYNONYMOUS_CODING ITGAM MODERATE|MISSENSE|aTg/aCg|M441T|1153|ITGAM|protein_coding|CODING|ENST00000544665|exon_16_31289288_31289430 . . 0/1:99:208,0,155 . 16 31367318 rs2230424 T C NON_SYNONYMOUS_CODING ITGAX MODERATE|MISSENSE|Tgg/Cgg|W48R|1163|ITGAX|protein_coding|CODING|ENST00000268296|exon_16_31367214_31367319 . . 0/1:99:232,0,198 . 16 31367318 rs2230424 T C NON_SYNONYMOUS_CODING ITGAX MODERATE|MISSENSE|Tgg/Cgg|W48R|1169|ITGAX|protein_coding|CODING|ENST00000562522|exon_16_31367214_31367319 . . 0/1:99:232,0,198 . 16 31371674 rs2230428 G A NON_SYNONYMOUS_CODING ITGAX MODERATE|MISSENSE|Gcc/Acc|A251T|1163|ITGAX|protein_coding|CODING|ENST00000268296|exon_16_31371631_31371784 . . 0/1:99:255,0,254 . 16 31371674 rs2230428 G A NON_SYNONYMOUS_CODING ITGAX MODERATE|MISSENSE|Gcc/Acc|A251T|1169|ITGAX|protein_coding|CODING|ENST00000562522|exon_16_31371631_31371784 . . 0/1:99:255,0,254 . 16 31446296 . C T NON_SYNONYMOUS_CODING ZNF843 MODERATE|MISSENSE|Gcc/Acc|A237T|293|ZNF843|protein_coding|CODING|ENST00000564218|exon_16_31445569_31446322 . . 0/1:99:226,0,206 . 16 31476200 . G A NON_SYNONYMOUS_CODING ARMC5 MODERATE|MISSENSE|cGa/cAa|R263Q|579|ARMC5|protein_coding|CODING|ENST00000412665|exon_16_31475715_31476208 . 0/1:99:163,0,129 . . 16 31476200 . G A NON_SYNONYMOUS_CODING ARMC5 MODERATE|MISSENSE|cGa/cAa|R619Q|725|ARMC5|protein_coding|CODING|ENST00000457010|exon_16_31475715_31478487 . 0/1:99:163,0,129 . . 16 31476200 . G A NON_SYNONYMOUS_CODING ARMC5 MODERATE|MISSENSE|cGa/cAa|R619Q|935|ARMC5|protein_coding|CODING|ENST00000268314|exon_16_31475715_31476208 . 0/1:99:163,0,129 . . 16 31476200 . G A NON_SYNONYMOUS_CODING ARMC5 MODERATE|MISSENSE|cGa/cAa|R619Q|935|ARMC5|protein_coding|CODING|ENST00000563544|exon_16_31475715_31476208 . 0/1:99:163,0,129 . . 16 31476200 . G A NON_SYNONYMOUS_CODING ARMC5 MODERATE|MISSENSE|cGa/cAa|R651Q|967|ARMC5|protein_coding|CODING|ENST00000538189|exon_16_31475715_31476208 . 0/1:99:163,0,129 . . 16 31476200 . G A NON_SYNONYMOUS_CODING ARMC5 MODERATE|MISSENSE|cGa/cAa|R714Q|1030|ARMC5|protein_coding|CODING|ENST00000408912|exon_16_31475715_31476208 . 0/1:99:163,0,129 . . 16 33961323 . G A NON_SYNONYMOUS_CODING LINC00273 MODERATE|MISSENSE|cCc/cTc|P373L|462|LINC00273|protein_coding|CODING|ENST00000539813|exon_16_33961052_33962503 . 0/1:56:53,0,255 . . 16 33961975 . C A NON_SYNONYMOUS_CODING LINC00273 MODERATE|MISSENSE|Ggg/Tgg|G156W|462|LINC00273|protein_coding|CODING|ENST00000539813|exon_16_33961052_33962503 . . . 0/1:99:176,0,169 16 47697618 rs16945474 A G NON_SYNONYMOUS_CODING PHKB MODERATE|MISSENSE|tAt/tGt|Y763C|1086|PHKB|protein_coding|CODING|ENST00000455779|exon_16_47697588_47697645 . . 0/1:99:228,0,255 . 16 47697618 rs16945474 A G NON_SYNONYMOUS_CODING PHKB MODERATE|MISSENSE|tAt/tGt|Y763C|1086|PHKB|protein_coding|CODING|ENST00000566044|exon_16_47697588_47697645 . . 0/1:99:228,0,255 . 16 47697618 rs16945474 A G NON_SYNONYMOUS_CODING PHKB MODERATE|MISSENSE|tAt/tGt|Y770C|1093|PHKB|protein_coding|CODING|ENST00000299167|exon_16_47697588_47697645 . . 0/1:99:228,0,255 . 16 47697618 rs16945474 A G NON_SYNONYMOUS_CODING PHKB MODERATE|MISSENSE|tAt/tGt|Y770C|1093|PHKB|protein_coding|CODING|ENST00000323584|exon_16_47697588_47697645 . . 0/1:99:228,0,255 . 16 48234327 rs16945930 C T NON_SYNONYMOUS_CODING ABCC11 MODERATE|MISSENSE|Gtc/Atc|V648I|1344|ABCC11|protein_coding|CODING|ENST00000353782|exon_16_48234187_48234390 0/1:99:225,0,248 . . . 16 48234327 rs16945930 C T NON_SYNONYMOUS_CODING ABCC11 MODERATE|MISSENSE|Gtc/Atc|V648I|1382|ABCC11|protein_coding|CODING|ENST00000356608|exon_16_48234187_48234390 0/1:99:225,0,248 . . . 16 48234327 rs16945930 C T NON_SYNONYMOUS_CODING ABCC11 MODERATE|MISSENSE|Gtc/Atc|V648I|1382|ABCC11|protein_coding|CODING|ENST00000394747|exon_16_48234187_48234390 0/1:99:225,0,248 . . . 16 48234327 rs16945930 C T NON_SYNONYMOUS_CODING ABCC11 MODERATE|MISSENSE|Gtc/Atc|V648I|1382|ABCC11|protein_coding|CODING|ENST00000394748|exon_16_48234187_48234390 0/1:99:225,0,248 . . . 16 48234327 rs16945930 C T NON_SYNONYMOUS_CODING ABCC11 MODERATE|MISSENSE|Gtc/Atc|V648I|755|ABCC11|protein_coding|CODING|ENST00000537808|exon_16_48234187_48234390 0/1:99:225,0,248 . . . 16 49430534 rs72776789 G A NON_SYNONYMOUS_CODING C16orf78 MODERATE|MISSENSE|Gaa/Aaa|E199K|265|C16orf78|protein_coding|CODING|ENST00000299191|exon_16_49430334_49430589 0/1:99:208,0,255 . . . 16 50187896 rs111797270 G A NON_SYNONYMOUS_CODING PAPD5 MODERATE|MISSENSE|Gcc/Acc|A107T|698|PAPD5|protein_coding|CODING|ENST00000436909|exon_16_50187658_50188170 . 0/1:73:70,0,132 . . 16 50187896 rs111797270 G A NON_SYNONYMOUS_CODING PAPD5 MODERATE|MISSENSE|Gcc/Acc|A40T|588|PAPD5|protein_coding|CODING|ENST00000561678|exon_16_50187705_50188170 . 0/1:73:70,0,132 . . 16 50187896 rs111797270 G A NON_SYNONYMOUS_CODING PAPD5 MODERATE|MISSENSE|Gcc/Acc|A40T|619|PAPD5|protein_coding|CODING|ENST00000357464|exon_16_50187779_50188030 . 0/1:73:70,0,132 . . 16 50402112 rs145220538 G C NON_SYNONYMOUS_CODING BRD7 MODERATE|MISSENSE|ttC/ttG|F49L|205|BRD7|protein_coding|CODING|ENST00000401491|exon_16_50402001_50402209 . . . 0/1:99:255,0,197 16 50402112 rs145220538 G C NON_SYNONYMOUS_CODING BRD7 MODERATE|MISSENSE|ttC/ttG|F49L|651|BRD7|protein_coding|CODING|ENST00000394688|exon_16_50402001_50402209 . . . 0/1:99:255,0,197 16 50402112 rs145220538 G C NON_SYNONYMOUS_CODING BRD7 MODERATE|MISSENSE|ttC/ttG|F49L|652|BRD7|protein_coding|CODING|ENST00000394689|exon_16_50402001_50402209 . . . 0/1:99:255,0,197 16 50744624 rs2066842 C T NON_SYNONYMOUS_CODING NOD2 MODERATE|MISSENSE|Ccc/Tcc|P241S|265|NOD2|protein_coding|CODING|ENST00000527070|exon_16_50744469_50744702 . 0/1:99:255,0,241 0/1:99:208,0,167 . 16 50744624 rs2066842 C T NON_SYNONYMOUS_CODING NOD2 MODERATE|MISSENSE|Ccc/Tcc|P268S|1040|NOD2|protein_coding|CODING|ENST00000300589|exon_16_50744469_50746284 . 0/1:99:255,0,241 0/1:99:208,0,167 . 16 50745926 rs2066844 C T NON_SYNONYMOUS_CODING NOD2 MODERATE|MISSENSE|Cgg/Tgg|R702W|1040|NOD2|protein_coding|CODING|ENST00000300589|exon_16_50744469_50746284 . 0/1:99:233,0,182 . . 16 53504536 rs61747629 A T NON_SYNONYMOUS_CODING RBL2 MODERATE|MISSENSE|agA/agT|R539S|849|RBL2|protein_coding|CODING|ENST00000379935|exon_16_53504295_53504575 . . . 0/1:99:255,0,242 16 53504536 rs61747629 A T NON_SYNONYMOUS_CODING RBL2 MODERATE|MISSENSE|agA/agT|R829S|1139|RBL2|protein_coding|CODING|ENST00000262133|exon_16_53504295_53504575 . . . 0/1:99:255,0,242 16 53653005 rs139974543 G C NON_SYNONYMOUS_CODING RPGRIP1L MODERATE|MISSENSE|gCt/gGt|A1103G|1235|RPGRIP1L|protein_coding|CODING|ENST00000262135|exon_16_53652937_53653120 . . . 0/1:99:255,0,255 16 53653005 rs139974543 G C NON_SYNONYMOUS_CODING RPGRIP1L MODERATE|MISSENSE|gCt/gGt|A1137G|1253|RPGRIP1L|protein_coding|CODING|ENST00000564374|exon_16_53652937_53653120 . . . 0/1:99:255,0,255 16 53653005 rs139974543 G C NON_SYNONYMOUS_CODING RPGRIP1L MODERATE|MISSENSE|gCt/gGt|A1149G|1281|RPGRIP1L|protein_coding|CODING|ENST00000563746|exon_16_53652937_53653120 . . . 0/1:99:255,0,255 16 53653005 rs139974543 G C NON_SYNONYMOUS_CODING RPGRIP1L MODERATE|MISSENSE|gCt/gGt|A1183G|1315|RPGRIP1L|protein_coding|CODING|ENST00000379925|exon_16_53652937_53653120 . . . 0/1:99:255,0,255 16 53682949 rs2302677 C T NON_SYNONYMOUS_CODING RPGRIP1L MODERATE|MISSENSE|cGa/cAa|R744Q|1235|RPGRIP1L|protein_coding|CODING|ENST00000262135|exon_16_53682876_53683027 . 0/1:99:240,0,248 . . 16 53682949 rs2302677 C T NON_SYNONYMOUS_CODING RPGRIP1L MODERATE|MISSENSE|cGa/cAa|R744Q|1253|RPGRIP1L|protein_coding|CODING|ENST00000564374|exon_16_53682876_53683027 . 0/1:99:240,0,248 . . 16 53682949 rs2302677 C T NON_SYNONYMOUS_CODING RPGRIP1L MODERATE|MISSENSE|cGa/cAa|R744Q|1281|RPGRIP1L|protein_coding|CODING|ENST00000563746|exon_16_53682876_53683027 . 0/1:99:240,0,248 . . 16 53682949 rs2302677 C T NON_SYNONYMOUS_CODING RPGRIP1L MODERATE|MISSENSE|cGa/cAa|R744Q|1315|RPGRIP1L|protein_coding|CODING|ENST00000379925|exon_16_53682876_53683027 . 0/1:99:240,0,248 . . 16 54279640 rs72811791 G T NON_SYNONYMOUS_CODING RP11-324D17.1.1 MODERATE|MISSENSE|agC/agA|S71R|84|RP11-324D17.1.1|protein_coding|CODING|ENST00000561084|exon_16_54279456_54279713 . 0/1:99:226,0,194 0/1:99:224,0,194 0/1:99:145,0,206 16 54279640 rs72811791 G T NON_SYNONYMOUS_CODING RP11-324D17.1.1 MODERATE|MISSENSE|gCg/gAg|A66E|79|RP11-324D17.1.1|protein_coding|CODING|ENST00000561336|exon_16_54279532_54279713 . 0/1:99:226,0,194 0/1:99:224,0,194 0/1:99:145,0,206 16 54279687 rs16953255 G C NON_SYNONYMOUS_CODING RP11-324D17.1.1 MODERATE|MISSENSE|Ctt/Gtt|L56V|84|RP11-324D17.1.1|protein_coding|CODING|ENST00000561084|exon_16_54279456_54279713 . 0/1:99:161,0,235 0/1:99:221,0,225 0/1:99:176,0,222 16 54279693 rs72811792 A G NON_SYNONYMOUS_CODING RP11-324D17.1.1 MODERATE|MISSENSE|Tgg/Cgg|W54R|84|RP11-324D17.1.1|protein_coding|CODING|ENST00000561084|exon_16_54279456_54279713 . 0/1:99:181,0,226 0/1:99:210,0,255 0/1:99:186,0,238 16 54318172 rs1126960 C A NON_SYNONYMOUS_CODING IRX3 MODERATE|MISSENSE|caG/caT|Q479H|501|IRX3|protein_coding|CODING|ENST00000329734|exon_16_54318158_54318224 . 0/1:99:187,0,239 0/1:99:161,0,255 . 16 55362645 rs3811363 G A NON_SYNONYMOUS_CODING IRX6 MODERATE|MISSENSE|cGg/cAg|R252Q|446|IRX6|protein_coding|CODING|ENST00000290552|exon_16_55362612_55363223 0/1:99:233,0,181 . . . 16 55853545 rs115629050 C A NON_SYNONYMOUS_CODING CES1 MODERATE|MISSENSE|Gct/Tct|A134S|432|CES1|protein_coding|CODING|ENST00000426667|exon_16_55853447_55853551 . 0/1:99:255,0,255 . . 16 55853545 rs115629050 C A NON_SYNONYMOUS_CODING CES1 MODERATE|MISSENSE|Gct/Tct|A269S|566|CES1|protein_coding|CODING|ENST00000422046|exon_16_55853447_55853551 . 0/1:99:255,0,255 . . 16 55853545 rs115629050 C A NON_SYNONYMOUS_CODING CES1 MODERATE|MISSENSE|Gct/Tct|A269S|567|CES1|protein_coding|CODING|ENST00000361503|exon_16_55853447_55853551 . 0/1:99:255,0,255 . . 16 55853545 rs115629050 C A NON_SYNONYMOUS_CODING CES1 MODERATE|MISSENSE|Gct/Tct|A270S|568|CES1|protein_coding|CODING|ENST00000360526|exon_16_55853447_55853551 . 0/1:99:255,0,255 . . 16 55855361 rs2307227 G T NON_SYNONYMOUS_CODING CES1 MODERATE|MISSENSE|gaC/gaA|D203E|566|CES1|protein_coding|CODING|ENST00000422046|exon_16_55855280_55855433 . 0/1:99:112,0,255 . . 16 55855361 rs2307227 G T NON_SYNONYMOUS_CODING CES1 MODERATE|MISSENSE|gaC/gaA|D203E|567|CES1|protein_coding|CODING|ENST00000361503|exon_16_55855280_55855433 . 0/1:99:112,0,255 . . 16 55855361 rs2307227 G T NON_SYNONYMOUS_CODING CES1 MODERATE|MISSENSE|gaC/gaA|D204E|568|CES1|protein_coding|CODING|ENST00000360526|exon_16_55855280_55855433 . 0/1:99:112,0,255 . . 16 55855361 rs2307227 G T NON_SYNONYMOUS_CODING CES1 MODERATE|MISSENSE|gaC/gaA|D68E|432|CES1|protein_coding|CODING|ENST00000426667|exon_16_55855280_55855433 . 0/1:99:112,0,255 . . 16 55862712 rs2307240 C T NON_SYNONYMOUS_CODING CES1 MODERATE|MISSENSE|aGc/aAc|S75N|566|CES1|protein_coding|CODING|ENST00000422046|exon_16_55862679_55862883 . 0/1:99:255,0,255 . . 16 55862712 rs2307240 C T NON_SYNONYMOUS_CODING CES1 MODERATE|MISSENSE|aGc/aAc|S75N|567|CES1|protein_coding|CODING|ENST00000361503|exon_16_55862679_55862883 . 0/1:99:255,0,255 . . 16 55862712 rs2307240 C T NON_SYNONYMOUS_CODING CES1 MODERATE|MISSENSE|aGc/aAc|S76N|568|CES1|protein_coding|CODING|ENST00000360526|exon_16_55862679_55862886 . 0/1:99:255,0,255 . . 16 55862883 rs3826190 C A NON_SYNONYMOUS_CODING CES1 MODERATE|MISSENSE|gGg/gTg|G18V|566|CES1|protein_coding|CODING|ENST00000422046|exon_16_55862679_55862883 . . . 0/1:67:64,0,255 16 55862883 rs3826190 C A NON_SYNONYMOUS_CODING CES1 MODERATE|MISSENSE|gGg/gTg|G18V|567|CES1|protein_coding|CODING|ENST00000361503|exon_16_55862679_55862883 . . . 0/1:67:64,0,255 16 55862883 rs3826190 C A NON_SYNONYMOUS_CODING CES1 MODERATE|MISSENSE|gGg/gTg|G19V|568|CES1|protein_coding|CODING|ENST00000360526|exon_16_55862679_55862886 . . . 0/1:67:64,0,255 16 55897289 rs11076126 C T NON_SYNONYMOUS_CODING CES5A MODERATE|MISSENSE|Gag/Aag|E155K|469|CES5A|protein_coding|CODING|ENST00000518005|exon_16_55897260_55897364 0/1:99:255,0,255 . . . 16 55897289 rs11076126 C T NON_SYNONYMOUS_CODING CES5A MODERATE|MISSENSE|Gag/Aag|E231K|545|CES5A|protein_coding|CODING|ENST00000520435|exon_16_55897260_55897364 0/1:99:255,0,255 . . . 16 55897289 rs11076126 C T NON_SYNONYMOUS_CODING CES5A MODERATE|MISSENSE|Gag/Aag|E261K|525|CES5A|protein_coding|CODING|ENST00000319165|exon_16_55897260_55897364 0/1:99:255,0,255 . . . 16 55897289 rs11076126 C T NON_SYNONYMOUS_CODING CES5A MODERATE|MISSENSE|Gag/Aag|E261K|575|CES5A|protein_coding|CODING|ENST00000290567|exon_16_55897260_55897364 0/1:99:255,0,255 . . . 16 55897289 rs11076126 C T NON_SYNONYMOUS_CODING CES5A MODERATE|MISSENSE|Gag/Aag|E290K|604|CES5A|protein_coding|CODING|ENST00000521992|exon_16_55897260_55897364 0/1:99:255,0,255 . . . 16 55897289 rs11076126 C T NON_SYNONYMOUS_CODING CES5A MODERATE|MISSENSE|Gag/Aag|E42K|355|CES5A|protein_coding|CODING|ENST00000541580|exon_16_55897260_55897364 0/1:99:255,0,255 . . . 16 55905560 rs143198507 C T NON_SYNONYMOUS_CODING CES5A MODERATE|MISSENSE|Gcc/Acc|A132T|525|CES5A|protein_coding|CODING|ENST00000319165|exon_16_55905537_55905675 0/1:99:164,0,255 . . . 16 55905560 rs143198507 C T NON_SYNONYMOUS_CODING CES5A MODERATE|MISSENSE|Gcc/Acc|A132T|575|CES5A|protein_coding|CODING|ENST00000290567|exon_16_55905537_55905675 0/1:99:164,0,255 . . . 16 55905560 rs143198507 C T NON_SYNONYMOUS_CODING CES5A MODERATE|MISSENSE|Gcc/Acc|A161T|604|CES5A|protein_coding|CODING|ENST00000521992|exon_16_55905537_55905675 0/1:99:164,0,255 . . . 16 55905560 rs143198507 C T NON_SYNONYMOUS_CODING CES5A MODERATE|MISSENSE|Gcc/Acc|A26T|469|CES5A|protein_coding|CODING|ENST00000518005|exon_16_55905537_55905675 0/1:99:164,0,255 . . . 16 55905560 rs143198507 C T NON_SYNONYMOUS_CODING CES5A MODERATE|MISSENSE|Gcc/Acc|A26T|74|CES5A|protein_coding|CODING|ENST00000536025|exon_16_55905537_55905675 0/1:99:164,0,255 . . . 16 55905571 rs148234688 G T NON_SYNONYMOUS_CODING CES5A MODERATE|MISSENSE|gCg/gAg|A128E|525|CES5A|protein_coding|CODING|ENST00000319165|exon_16_55905537_55905675 0/1:99:176,0,255 . . . 16 55905571 rs148234688 G T NON_SYNONYMOUS_CODING CES5A MODERATE|MISSENSE|gCg/gAg|A128E|575|CES5A|protein_coding|CODING|ENST00000290567|exon_16_55905537_55905675 0/1:99:176,0,255 . . . 16 55905571 rs148234688 G T NON_SYNONYMOUS_CODING CES5A MODERATE|MISSENSE|gCg/gAg|A157E|604|CES5A|protein_coding|CODING|ENST00000521992|exon_16_55905537_55905675 0/1:99:176,0,255 . . . 16 55905571 rs148234688 G T NON_SYNONYMOUS_CODING CES5A MODERATE|MISSENSE|gCg/gAg|A22E|469|CES5A|protein_coding|CODING|ENST00000518005|exon_16_55905537_55905675 0/1:99:176,0,255 . . . 16 55905571 rs148234688 G T NON_SYNONYMOUS_CODING CES5A MODERATE|MISSENSE|gCg/gAg|A22E|74|CES5A|protein_coding|CODING|ENST00000536025|exon_16_55905537_55905675 0/1:99:176,0,255 . . . 16 56602798 rs11643815 G A NON_SYNONYMOUS_CODING MT4 MODERATE|MISSENSE|gGc/gAc|G48D|62|MT4|protein_coding|CODING|ENST00000219162|exon_16_56602753_56602869 . . 0/1:99:214,0,211 . 16 56660816 rs72818417 G A NON_SYNONYMOUS_CODING MT1E MODERATE|MISSENSE|gGc/gAc|G18D|39|MT1E|protein_coding|CODING|ENST00000568293|exon_16_56660792_56661024 . . 0/1:99:121,0,197 . 16 56660816 rs72818417 G A NON_SYNONYMOUS_CODING MT1E MODERATE|MISSENSE|gGc/gAc|G40D|61|MT1E|protein_coding|CODING|ENST00000306061|exon_16_56660792_56661024 . . 0/1:99:121,0,197 . 16 56918086 rs199883951 C T NON_SYNONYMOUS_CODING SLC12A3 MODERATE|MISSENSE|Ctc/Ttc|L598F|1020|SLC12A3|protein_coding|CODING|ENST00000262502|exon_16_56917961_56918116 . . . 0/1:99:223,0,255 16 56918086 rs199883951 C T NON_SYNONYMOUS_CODING SLC12A3 MODERATE|MISSENSE|Ctc/Ttc|L598F|1029|SLC12A3|protein_coding|CODING|ENST00000566786|exon_16_56917961_56918116 . . . 0/1:99:223,0,255 16 56918086 rs199883951 C T NON_SYNONYMOUS_CODING SLC12A3 MODERATE|MISSENSE|Ctc/Ttc|L599F|1021|SLC12A3|protein_coding|CODING|ENST00000563236|exon_16_56917961_56918116 . . . 0/1:99:223,0,255 16 56918086 rs199883951 C T NON_SYNONYMOUS_CODING SLC12A3 MODERATE|MISSENSE|Ctc/Ttc|L599F|1030|SLC12A3|protein_coding|CODING|ENST00000438926|exon_16_56917961_56918116 . . . 0/1:99:223,0,255 16 57015091 rs5880 G C NON_SYNONYMOUS_CODING CETP MODERATE|MISSENSE|Gcc/Ccc|A325P|428|CETP|protein_coding|CODING|ENST00000566128|exon_16_57015070_57015137 . 0/1:99:255,0,192 . . 16 57015091 rs5880 G C NON_SYNONYMOUS_CODING CETP MODERATE|MISSENSE|Gcc/Ccc|A330P|433|CETP|protein_coding|CODING|ENST00000379780|exon_16_57015070_57015137 . 0/1:99:255,0,192 . . 16 57015091 rs5880 G C NON_SYNONYMOUS_CODING CETP MODERATE|MISSENSE|Gcc/Ccc|A390P|493|CETP|protein_coding|CODING|ENST00000200676|exon_16_57015070_57015137 . 0/1:99:255,0,192 . . 16 57017319 rs1800777 G A NON_SYNONYMOUS_CODING CETP MODERATE|MISSENSE|cGa/cAa|R403Q|428|CETP|protein_coding|CODING|ENST00000566128|exon_16_57017238_57017323 . 0/1:99:188,0,255 . . 16 57017319 rs1800777 G A NON_SYNONYMOUS_CODING CETP MODERATE|MISSENSE|cGa/cAa|R408Q|433|CETP|protein_coding|CODING|ENST00000379780|exon_16_57017238_57017323 . 0/1:99:188,0,255 . . 16 57017319 rs1800777 G A NON_SYNONYMOUS_CODING CETP MODERATE|MISSENSE|cGa/cAa|R468Q|493|CETP|protein_coding|CODING|ENST00000200676|exon_16_57017238_57017323 . 0/1:99:188,0,255 . . 16 57093436 rs117950337 G T NON_SYNONYMOUS_CODING NLRC5 MODERATE|MISSENSE|aaG/aaT|K1297N|1837|NLRC5|protein_coding|CODING|ENST00000308149|exon_16_57093379_57093444 0/1:99:214,0,212 . . . 16 57093436 rs117950337 G T NON_SYNONYMOUS_CODING NLRC5 MODERATE|MISSENSE|aaG/aaT|K1297N|1837|NLRC5|protein_coding|CODING|ENST00000539144|exon_16_57093379_57093444 0/1:99:214,0,212 . . . 16 57093436 rs117950337 G T NON_SYNONYMOUS_CODING NLRC5 MODERATE|MISSENSE|aaG/aaT|K1326N|1551|NLRC5|protein_coding|CODING|ENST00000436936|exon_16_57093379_57093444 0/1:99:214,0,212 . . . 16 57093436 rs117950337 G T NON_SYNONYMOUS_CODING NLRC5 MODERATE|MISSENSE|aaG/aaT|K1326N|1866|NLRC5|protein_coding|CODING|ENST00000262510|exon_16_57093379_57093444 0/1:99:214,0,212 . . . 16 57093436 rs117950337 G T NON_SYNONYMOUS_CODING NLRC5 MODERATE|MISSENSE|aaG/aaT|K537N|630|NLRC5|protein_coding|CODING|ENST00000543030|exon_16_57093379_57093444 0/1:99:214,0,212 . . . 16 57093436 rs117950337 G T NON_SYNONYMOUS_CODING NLRC5 MODERATE|MISSENSE|aaG/aaT|K769N|849|NLRC5|protein_coding|CODING|ENST00000327982|exon_16_57093379_57093444 0/1:99:214,0,212 . . . 16 57093436 rs117950337 G T NON_SYNONYMOUS_CODING NLRC5 MODERATE|MISSENSE|aaG/aaT|K802N|884|NLRC5|protein_coding|CODING|ENST00000538110|exon_16_57093379_57093444 0/1:99:214,0,212 . . . 16 57283730 rs7198865 G A NON_SYNONYMOUS_CODING ARL2BP MODERATE|MISSENSE|Gag/Aag|E47K|123|ARL2BP|protein_coding|CODING|ENST00000562023|exon_16_57283692_57283764 . . . 0/1:99:255,0,255 16 57283730 rs7198865 G A NON_SYNONYMOUS_CODING ARL2BP MODERATE|MISSENSE|Gag/Aag|E87K|163|ARL2BP|protein_coding|CODING|ENST00000219204|exon_16_57283679_57283764 . . . 0/1:99:255,0,255 16 57685369 rs145881545 C T NON_SYNONYMOUS_CODING GPR56 MODERATE|MISSENSE|Cgt/Tgt|R108C|109|GPR56|protein_coding|CODING|ENST00000569372|exon_16_57685112_57685379 . 0/1:99:200,0,253 . . 16 57685369 rs145881545 C T NON_SYNONYMOUS_CODING GPR56 MODERATE|MISSENSE|Cgt/Tgt|R108C|110|GPR56|protein_coding|CODING|ENST00000563414|exon_16_57685112_57685380 . 0/1:99:200,0,253 . . 16 57685369 rs145881545 C T NON_SYNONYMOUS_CODING GPR56 MODERATE|MISSENSE|Cgt/Tgt|R108C|112|GPR56|protein_coding|CODING|ENST00000563445|exon_16_57685112_57685386 . 0/1:99:200,0,253 . . 16 57685369 rs145881545 C T NON_SYNONYMOUS_CODING GPR56 MODERATE|MISSENSE|Cgt/Tgt|R108C|115|GPR56|protein_coding|CODING|ENST00000566164|exon_16_57685112_57685396 . 0/1:99:200,0,253 . . 16 57685369 rs145881545 C T NON_SYNONYMOUS_CODING GPR56 MODERATE|MISSENSE|Cgt/Tgt|R108C|115|GPR56|protein_coding|CODING|ENST00000567154|exon_16_57685112_57685395 . 0/1:99:200,0,253 . . 16 57685369 rs145881545 C T NON_SYNONYMOUS_CODING GPR56 MODERATE|MISSENSE|Cgt/Tgt|R108C|117|GPR56|protein_coding|CODING|ENST00000569531|exon_16_57685112_57685403 . 0/1:99:200,0,253 . . 16 57685369 rs145881545 C T NON_SYNONYMOUS_CODING GPR56 MODERATE|MISSENSE|Cgt/Tgt|R108C|118|GPR56|protein_coding|CODING|ENST00000565013|exon_16_57685112_57685404 . 0/1:99:200,0,253 . . 16 57685369 rs145881545 C T NON_SYNONYMOUS_CODING GPR56 MODERATE|MISSENSE|Cgt/Tgt|R108C|121|GPR56|protein_coding|CODING|ENST00000569158|exon_16_57685112_57685414 . 0/1:99:200,0,253 . . 16 57685369 rs145881545 C T NON_SYNONYMOUS_CODING GPR56 MODERATE|MISSENSE|Cgt/Tgt|R108C|130|GPR56|protein_coding|CODING|ENST00000564722|exon_16_57685112_57685440 . 0/1:99:200,0,253 . . 16 57685369 rs145881545 C T NON_SYNONYMOUS_CODING GPR56 MODERATE|MISSENSE|Cgt/Tgt|R108C|130|GPR56|protein_coding|CODING|ENST00000568157|exon_16_57685112_57685441 . 0/1:99:200,0,253 . . 16 57685369 rs145881545 C T NON_SYNONYMOUS_CODING GPR56 MODERATE|MISSENSE|Cgt/Tgt|R108C|139|GPR56|protein_coding|CODING|ENST00000565314|exon_16_57685112_57685469 . 0/1:99:200,0,253 . . 16 57685369 rs145881545 C T NON_SYNONYMOUS_CODING GPR56 MODERATE|MISSENSE|Cgt/Tgt|R108C|152|GPR56|protein_coding|CODING|ENST00000566187|exon_16_57685112_57685506 . 0/1:99:200,0,253 . . 16 57685369 rs145881545 C T NON_SYNONYMOUS_CODING GPR56 MODERATE|MISSENSE|Cgt/Tgt|R108C|153|GPR56|protein_coding|CODING|ENST00000566169|exon_16_57685112_57685509 . 0/1:99:200,0,253 . . 16 57685369 rs145881545 C T NON_SYNONYMOUS_CODING GPR56 MODERATE|MISSENSE|Cgt/Tgt|R108C|158|GPR56|protein_coding|CODING|ENST00000561969|exon_16_57685112_57685526 . 0/1:99:200,0,253 . . 16 57685369 rs145881545 C T NON_SYNONYMOUS_CODING GPR56 MODERATE|MISSENSE|Cgt/Tgt|R108C|161|GPR56|protein_coding|CODING|ENST00000561833|exon_16_57685112_57685534 . 0/1:99:200,0,253 . . 16 57685369 rs145881545 C T NON_SYNONYMOUS_CODING GPR56 MODERATE|MISSENSE|Cgt/Tgt|R108C|166|GPR56|protein_coding|CODING|ENST00000561696|exon_16_57685112_57685534 . 0/1:99:200,0,253 . . 16 57685369 rs145881545 C T NON_SYNONYMOUS_CODING GPR56 MODERATE|MISSENSE|Cgt/Tgt|R108C|166|GPR56|protein_coding|CODING|ENST00000569494|exon_16_57685112_57685534 . 0/1:99:200,0,253 . . 16 57685369 rs145881545 C T NON_SYNONYMOUS_CODING GPR56 MODERATE|MISSENSE|Cgt/Tgt|R108C|198|GPR56|protein_coding|CODING|ENST00000569101|exon_16_57685112_57685534 . 0/1:99:200,0,253 . . 16 57685369 rs145881545 C T NON_SYNONYMOUS_CODING GPR56 MODERATE|MISSENSE|Cgt/Tgt|R108C|255|GPR56|protein_coding|CODING|ENST00000561988|exon_16_57685112_57685534 . 0/1:99:200,0,253 . . 16 57685369 rs145881545 C T NON_SYNONYMOUS_CODING GPR56 MODERATE|MISSENSE|Cgt/Tgt|R108C|687|GPR56|protein_coding|CODING|ENST00000388813|exon_16_57685112_57685534 . 0/1:99:200,0,253 . . 16 57685369 rs145881545 C T NON_SYNONYMOUS_CODING GPR56 MODERATE|MISSENSE|Cgt/Tgt|R108C|687|GPR56|protein_coding|CODING|ENST00000538815|exon_16_57685112_57685534 . 0/1:99:200,0,253 . . 16 57685369 rs145881545 C T NON_SYNONYMOUS_CODING GPR56 MODERATE|MISSENSE|Cgt/Tgt|R108C|687|GPR56|protein_coding|CODING|ENST00000540164|exon_16_57685112_57685534 . 0/1:99:200,0,253 . . 16 57685369 rs145881545 C T NON_SYNONYMOUS_CODING GPR56 MODERATE|MISSENSE|Cgt/Tgt|R108C|687|GPR56|protein_coding|CODING|ENST00000562558|exon_16_57685112_57685534 . 0/1:99:200,0,253 . . 16 57685369 rs145881545 C T NON_SYNONYMOUS_CODING GPR56 MODERATE|MISSENSE|Cgt/Tgt|R108C|687|GPR56|protein_coding|CODING|ENST00000562631|exon_16_57685112_57685534 . 0/1:99:200,0,253 . . 16 57685369 rs145881545 C T NON_SYNONYMOUS_CODING GPR56 MODERATE|MISSENSE|Cgt/Tgt|R108C|687|GPR56|protein_coding|CODING|ENST00000568908|exon_16_57685112_57685534 . 0/1:99:200,0,253 . . 16 57685369 rs145881545 C T NON_SYNONYMOUS_CODING GPR56 MODERATE|MISSENSE|Cgt/Tgt|R108C|693|GPR56|protein_coding|CODING|ENST00000379696|exon_16_57685112_57685534 . 0/1:99:200,0,253 . . 16 57685369 rs145881545 C T NON_SYNONYMOUS_CODING GPR56 MODERATE|MISSENSE|Cgt/Tgt|R108C|693|GPR56|protein_coding|CODING|ENST00000388812|exon_16_57685112_57685534 . 0/1:99:200,0,253 . . 16 57685369 rs145881545 C T NON_SYNONYMOUS_CODING GPR56 MODERATE|MISSENSE|Cgt/Tgt|R108C|693|GPR56|protein_coding|CODING|ENST00000456916|exon_16_57685112_57685534 . 0/1:99:200,0,253 . . 16 57685369 rs145881545 C T NON_SYNONYMOUS_CODING GPR56 MODERATE|MISSENSE|Cgt/Tgt|R108C|693|GPR56|protein_coding|CODING|ENST00000567835|exon_16_57685112_57685534 . 0/1:99:200,0,253 . . 16 57685369 rs145881545 C T NON_SYNONYMOUS_CODING GPR56 MODERATE|MISSENSE|Cgt/Tgt|R108C|693|GPR56|protein_coding|CODING|ENST00000568909|exon_16_57685112_57685534 . 0/1:99:200,0,253 . . 16 57685369 rs145881545 C T NON_SYNONYMOUS_CODING GPR56 MODERATE|MISSENSE|Cgt/Tgt|R113C|113|GPR56|protein_coding|CODING|ENST00000564338|exon_16_57685097_57685376 . 0/1:99:200,0,253 . . 16 57685369 rs145881545 C T NON_SYNONYMOUS_CODING GPR56 MODERATE|MISSENSE|Cgt/Tgt|R113C|117|GPR56|protein_coding|CODING|ENST00000562467|exon_16_57685097_57685386 . 0/1:99:200,0,253 . . 16 57685369 rs145881545 C T NON_SYNONYMOUS_CODING GPR56 MODERATE|MISSENSE|Cgt/Tgt|R113C|117|GPR56|protein_coding|CODING|ENST00000567915|exon_16_57685097_57685386 . 0/1:99:200,0,253 . . 16 57685369 rs145881545 C T NON_SYNONYMOUS_CODING GPR56 MODERATE|MISSENSE|Cgt/Tgt|R113C|124|GPR56|protein_coding|CODING|ENST00000563548|exon_16_57685097_57685409 . 0/1:99:200,0,253 . . 16 57685369 rs145881545 C T NON_SYNONYMOUS_CODING GPR56 MODERATE|MISSENSE|Cgt/Tgt|R113C|143|GPR56|protein_coding|CODING|ENST00000568234|exon_16_57685097_57685466 . 0/1:99:200,0,253 . . 16 57685369 rs145881545 C T NON_SYNONYMOUS_CODING GPR56 MODERATE|MISSENSE|Cgt/Tgt|R113C|145|GPR56|protein_coding|CODING|ENST00000562003|exon_16_57685097_57685471 . 0/1:99:200,0,253 . . 16 57685369 rs145881545 C T NON_SYNONYMOUS_CODING GPR56 MODERATE|MISSENSE|Cgt/Tgt|R113C|163|GPR56|protein_coding|CODING|ENST00000563862|exon_16_57685097_57685525 . 0/1:99:200,0,253 . . 16 57685369 rs145881545 C T NON_SYNONYMOUS_CODING GPR56 MODERATE|MISSENSE|Cgt/Tgt|R113C|166|GPR56|protein_coding|CODING|ENST00000566271|exon_16_57685097_57685534 . 0/1:99:200,0,253 . . 16 57685369 rs145881545 C T NON_SYNONYMOUS_CODING GPR56 MODERATE|MISSENSE|Cgt/Tgt|R113C|167|GPR56|protein_coding|CODING|ENST00000561782|exon_16_57685097_57685536 . 0/1:99:200,0,253 . . 16 57685369 rs145881545 C T NON_SYNONYMOUS_CODING GPR56 MODERATE|MISSENSE|Cgt/Tgt|R56C|124|GPR56|protein_coding|CODING|ENST00000568531|exon_16_57685268_57685534 . 0/1:99:200,0,253 . . 16 57685369 rs145881545 C T NON_SYNONYMOUS_CODING GPR56 MODERATE|MISSENSE|Cgt/Tgt|R56C|94|GPR56|protein_coding|CODING|ENST00000568979|exon_16_57685268_57685488 . 0/1:99:200,0,253 . . 16 57738810 rs58373934 T A NON_SYNONYMOUS_CODING CCDC135 MODERATE|MISSENSE|gTg/gAg|V176E|809|CCDC135|protein_coding|CODING|ENST00000336825|exon_16_57738788_57738946 . . 0/1:99:212,0,255 . 16 57738810 rs58373934 T A NON_SYNONYMOUS_CODING CCDC135 MODERATE|MISSENSE|gTg/gAg|V241E|874|CCDC135|protein_coding|CODING|ENST00000360716|exon_16_57738788_57738946 . . 0/1:99:212,0,255 . 16 57738810 rs58373934 T A NON_SYNONYMOUS_CODING CCDC135 MODERATE|MISSENSE|gTg/gAg|V241E|874|CCDC135|protein_coding|CODING|ENST00000394337|exon_16_57738788_57738946 . . 0/1:99:212,0,255 . 16 57789053 rs150516698 C G NON_SYNONYMOUS_CODING KATNB1 MODERATE|MISSENSE|cCa/cGa|P440R|655|KATNB1|protein_coding|CODING|ENST00000379661|exon_16_57789031_57789150 . . . 0/1:48:170,0,45 16 58557342 rs11644694 G A NON_SYNONYMOUS_CODING CNOT1 MODERATE|MISSENSE|aCt/aTt|T288I|316|CNOT1|protein_coding|CODING|ENST00000546037|exon_16_58557274_58557370 . . . 1/1:99:255,111,0 16 66432381 rs16956504 T C NON_SYNONYMOUS_CODING CDH5 MODERATE|MISSENSE|aTa/aCa|I244T|525|CDH5|protein_coding|CODING|ENST00000539262|exon_16_66432359_66432464 . 0/1:99:189,0,212 0/1:99:182,0,174 . 16 66432381 rs16956504 T C NON_SYNONYMOUS_CODING CDH5 MODERATE|MISSENSE|aTa/aCa|I388T|669|CDH5|protein_coding|CODING|ENST00000379531|exon_16_66432359_66432464 . 0/1:99:189,0,212 0/1:99:182,0,174 . 16 66432381 rs16956504 T C NON_SYNONYMOUS_CODING CDH5 MODERATE|MISSENSE|aTa/aCa|I503T|784|CDH5|protein_coding|CODING|ENST00000341529|exon_16_66432359_66432464 . 0/1:99:189,0,212 0/1:99:182,0,174 . 16 66583994 rs3743715 G C NON_SYNONYMOUS_CODING TK2 MODERATE|MISSENSE|Ccc/Gcc|P33A|307|TK2|protein_coding|CODING|ENST00000299697|exon_16_66583841_66584315 0/1:99:175,0,184 . . . 16 66944260 rs142042494 G C NON_SYNONYMOUS_CODING CDH16 MODERATE|MISSENSE|agC/agG|S593R|732|CDH16|protein_coding|CODING|ENST00000568632|exon_16_66944163_66944405 . . 0/1:99:255,0,208 . 16 66944260 rs142042494 G C NON_SYNONYMOUS_CODING CDH16 MODERATE|MISSENSE|agC/agG|S610R|749|CDH16|protein_coding|CODING|ENST00000570262|exon_16_66944163_66944405 . . 0/1:99:255,0,208 . 16 66944260 rs142042494 G C NON_SYNONYMOUS_CODING CDH16 MODERATE|MISSENSE|agC/agG|S651R|790|CDH16|protein_coding|CODING|ENST00000565796|exon_16_66944163_66944288 . . 0/1:99:255,0,208 . 16 66944260 rs142042494 G C NON_SYNONYMOUS_CODING CDH16 MODERATE|MISSENSE|agC/agG|S654R|793|CDH16|protein_coding|CODING|ENST00000544875|exon_16_66944163_66944405 . . 0/1:99:255,0,208 . 16 66944260 rs142042494 G C NON_SYNONYMOUS_CODING CDH16 MODERATE|MISSENSE|agC/agG|S668R|807|CDH16|protein_coding|CODING|ENST00000394055|exon_16_66944163_66944339 . . 0/1:99:255,0,208 . 16 66944260 rs142042494 G C NON_SYNONYMOUS_CODING CDH16 MODERATE|MISSENSE|agC/agG|S690R|829|CDH16|protein_coding|CODING|ENST00000299752|exon_16_66944163_66944405 . . 0/1:99:255,0,208 . 16 66945947 rs61735427 C T NON_SYNONYMOUS_CODING CDH16 MODERATE|MISSENSE|Gcc/Acc|A452T|732|CDH16|protein_coding|CODING|ENST00000568632|exon_16_66945802_66946043 0/1:99:142,0,220 0/1:99:196,0,201 . . 16 66945947 rs61735427 C T NON_SYNONYMOUS_CODING CDH16 MODERATE|MISSENSE|Gcc/Acc|A469T|749|CDH16|protein_coding|CODING|ENST00000570262|exon_16_66945802_66946043 0/1:99:142,0,220 0/1:99:196,0,201 . . 16 66945947 rs61735427 C T NON_SYNONYMOUS_CODING CDH16 MODERATE|MISSENSE|Gcc/Acc|A513T|793|CDH16|protein_coding|CODING|ENST00000544875|exon_16_66945802_66946043 0/1:99:142,0,220 0/1:99:196,0,201 . . 16 66945947 rs61735427 C T NON_SYNONYMOUS_CODING CDH16 MODERATE|MISSENSE|Gcc/Acc|A549T|790|CDH16|protein_coding|CODING|ENST00000565796|exon_16_66945802_66946043 0/1:99:142,0,220 0/1:99:196,0,201 . . 16 66945947 rs61735427 C T NON_SYNONYMOUS_CODING CDH16 MODERATE|MISSENSE|Gcc/Acc|A549T|807|CDH16|protein_coding|CODING|ENST00000394055|exon_16_66945802_66946043 0/1:99:142,0,220 0/1:99:196,0,201 . . 16 66945947 rs61735427 C T NON_SYNONYMOUS_CODING CDH16 MODERATE|MISSENSE|Gcc/Acc|A549T|829|CDH16|protein_coding|CODING|ENST00000299752|exon_16_66945802_66946043 0/1:99:142,0,220 0/1:99:196,0,201 . . 16 66997491 rs61745806 G A NON_SYNONYMOUS_CODING CES3 MODERATE|MISSENSE|Gtc/Atc|V129I|180|CES3|protein_coding|CODING|ENST00000566746|exon_16_66997394_66997651 0/1:99:184,0,245 . . . 16 66997491 rs61745806 G A NON_SYNONYMOUS_CODING CES3 MODERATE|MISSENSE|Gtc/Atc|V129I|568|CES3|protein_coding|CODING|ENST00000394037|exon_16_66997394_66997532 0/1:99:184,0,245 . . . 16 66997491 rs61745806 G A NON_SYNONYMOUS_CODING CES3 MODERATE|MISSENSE|Gtc/Atc|V129I|571|CES3|protein_coding|CODING|ENST00000303334|exon_16_66997394_66997532 0/1:99:184,0,245 . . . 16 67132655 . G A NON_SYNONYMOUS_CODING CBFB MODERATE|MISSENSE|Ggt/Agt|G180S|187|CBFB|protein_coding|CODING|ENST00000412916|exon_16_67132613_67134925 0/1:99:255,0,255 . . . 16 67201693 rs201430635 C G NON_SYNONYMOUS_CODING HSF4 MODERATE|MISSENSE|Ctg/Gtg|L309V|492|HSF4|protein_coding|CODING|ENST00000264009|exon_16_67201623_67201850 . . 0/1:99:172,0,226 . 16 67201693 rs201430635 C G NON_SYNONYMOUS_CODING HSF4 MODERATE|MISSENSE|Ctg/Gtg|L309V|492|HSF4|protein_coding|CODING|ENST00000521374|exon_16_67201623_67201850 . . 0/1:99:172,0,226 . 16 67218391 rs201102355 C T NON_SYNONYMOUS_CODING EXOC3L1 MODERATE|MISSENSE|cGc/cAc|R716H|746|EXOC3L1|protein_coding|CODING|ENST00000314586|exon_16_67218269_67218507 . 0/1:99:216,0,223 . . 16 67221444 rs34746889 G C NON_SYNONYMOUS_CODING EXOC3L1 MODERATE|MISSENSE|Cgg/Ggg|R181G|678|EXOC3L1|protein_coding|CODING|ENST00000545725|exon_16_67221128_67221740 . . 0/1:99:235,0,211 . 16 67221444 rs34746889 G C NON_SYNONYMOUS_CODING EXOC3L1 MODERATE|MISSENSE|Cgg/Ggg|R186G|677|EXOC3L1|protein_coding|CODING|ENST00000314553|exon_16_67221128_67221740 . . 0/1:99:235,0,211 . 16 67221444 rs34746889 G C NON_SYNONYMOUS_CODING EXOC3L1 MODERATE|MISSENSE|Cgg/Ggg|R186G|683|EXOC3L1|protein_coding|CODING|ENST00000563889|exon_16_67221128_67221740 . . 0/1:99:235,0,211 . 16 67221444 rs34746889 G C NON_SYNONYMOUS_CODING EXOC3L1 MODERATE|MISSENSE|Cgg/Ggg|R242G|746|EXOC3L1|protein_coding|CODING|ENST00000314586|exon_16_67221128_67221740 . . 0/1:99:235,0,211 . 16 67229793 . ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA CODON_CHANGE_PLUS_CODON_INSERTION E2F4 MODERATE||aac/aGCAac|N320SN|413|E2F4|protein_coding|CODING|ENST00000379378|exon_16_67229685_67229909 0/1:99:174,0,255 . . . 16 67265541 rs117880323 C T NON_SYNONYMOUS_CODING FHOD1 MODERATE|MISSENSE|cGg/cAg|R374Q|743|FHOD1|protein_coding|CODING|ENST00000567687|exon_16_67265540_67265722 0/1:99:213,0,255 . . . 16 67265541 rs117880323 C T NON_SYNONYMOUS_CODING FHOD1 MODERATE|MISSENSE|cGg/cAg|R795Q|1164|FHOD1|protein_coding|CODING|ENST00000258201|exon_16_67265540_67265722 0/1:99:213,0,255 . . . 16 67320811 rs80024062 C T NON_SYNONYMOUS_CODING PLEKHG4 MODERATE|MISSENSE|Cgc/Tgc|R779C|998|PLEKHG4|protein_coding|CODING|ENST00000563529|exon_16_67320652_67320822 . . 0/1:99:227,0,250 . 16 67320811 rs80024062 C T NON_SYNONYMOUS_CODING PLEKHG4 MODERATE|MISSENSE|Cgc/Tgc|R779C|998|PLEKHG4|protein_coding|CODING|ENST00000563969|exon_16_67320652_67320822 . . 0/1:99:227,0,250 . 16 67320811 rs80024062 C T NON_SYNONYMOUS_CODING PLEKHG4 MODERATE|MISSENSE|Cgc/Tgc|R891C|1110|PLEKHG4|protein_coding|CODING|ENST00000450733|exon_16_67320652_67320822 . . 0/1:99:227,0,250 . 16 67320811 rs80024062 C T NON_SYNONYMOUS_CODING PLEKHG4 MODERATE|MISSENSE|Cgc/Tgc|R972C|1191|PLEKHG4|protein_coding|CODING|ENST00000360461|exon_16_67320652_67320822 . . 0/1:99:227,0,250 . 16 67320811 rs80024062 C T NON_SYNONYMOUS_CODING PLEKHG4 MODERATE|MISSENSE|Cgc/Tgc|R972C|1191|PLEKHG4|protein_coding|CODING|ENST00000379344|exon_16_67320652_67320822 . . 0/1:99:227,0,250 . 16 67320811 rs80024062 C T NON_SYNONYMOUS_CODING PLEKHG4 MODERATE|MISSENSE|Cgc/Tgc|R972C|1191|PLEKHG4|protein_coding|CODING|ENST00000427155|exon_16_67320652_67320822 . . 0/1:99:227,0,250 . 16 67686231 . GAGAAG GAG CODON_DELETION RLTPR MODERATE||aag/-|K34-|444|RLTPR|protein_coding|CODING|ENST00000398282|exon_16_67686102_67686242 0/1:99:255,0,208 . . . 16 67686231 . GAGAAG GAG CODON_DELETION RLTPR MODERATE||aag/-|K901-|1372|RLTPR|protein_coding|CODING|ENST00000545661|exon_16_67686102_67686242 0/1:99:255,0,208 . . . 16 67686231 . GAGAAG GAG CODON_DELETION RLTPR MODERATE||aag/-|K937-|1435|RLTPR|protein_coding|CODING|ENST00000334583|exon_16_67686102_67686242 0/1:99:255,0,208 . . . 16 67970188 . G C NON_SYNONYMOUS_CODING PSMB10 MODERATE|MISSENSE|Cga/Gga|R58G|273|PSMB10|protein_coding|CODING|ENST00000358514|exon_16_67970118_67970215 0/1:61:58,0,100 . . . 16 68265775 . C T NON_SYNONYMOUS_CODING ESRP2 MODERATE|MISSENSE|cGc/cAc|R410H|717|ESRP2|protein_coding|CODING|ENST00000473183|exon_16_68265705_68266006 0/1:99:175,0,255 . . . 16 68265775 . C T NON_SYNONYMOUS_CODING ESRP2 MODERATE|MISSENSE|cGc/cAc|R420H|727|ESRP2|protein_coding|CODING|ENST00000565858|exon_16_68265705_68266006 0/1:99:175,0,255 . . . 16 68269622 . G A NON_SYNONYMOUS_CODING ESRP2 MODERATE|MISSENSE|gCa/gTa|A81V|717|ESRP2|protein_coding|CODING|ENST00000473183|exon_16_68269537_68269665 . 0/1:99:211,0,195 . . 16 68269622 . G A NON_SYNONYMOUS_CODING ESRP2 MODERATE|MISSENSE|gCa/gTa|A81V|727|ESRP2|protein_coding|CODING|ENST00000565858|exon_16_68269537_68269665 . 0/1:99:211,0,195 . . 16 68344329 rs142496712 T C NON_SYNONYMOUS_CODING SLC7A6OS MODERATE|MISSENSE|aAc/aGc|N127S|309|SLC7A6OS|protein_coding|CODING|ENST00000263997|exon_16_68344238_68344516 . . 0/1:99:118,0,146 . 16 68719113 rs34494880 G A NON_SYNONYMOUS_CODING CDH3 MODERATE|MISSENSE|cGc/cAc|R422H|774|CDH3|protein_coding|CODING|ENST00000542274|exon_16_68719108_68719253 . . 0/1:99:255,0,255 . 16 68719113 rs34494880 G A NON_SYNONYMOUS_CODING CDH3 MODERATE|MISSENSE|cGc/cAc|R477H|784|CDH3|protein_coding|CODING|ENST00000429102|exon_16_68719108_68719253 . . 0/1:99:255,0,255 . 16 68719113 rs34494880 G A NON_SYNONYMOUS_CODING CDH3 MODERATE|MISSENSE|cGc/cAc|R477H|829|CDH3|protein_coding|CODING|ENST00000264012|exon_16_68719108_68719253 . . 0/1:99:255,0,255 . 16 68842668 . G A NON_SYNONYMOUS_CODING CDH1 MODERATE|MISSENSE|Gtt/Att|V202I|647|CDH1|protein_coding|CODING|ENST00000268794|exon_16_68842596_68842751 0/1:99:209,0,255 . . . 16 68842668 . G A NON_SYNONYMOUS_CODING CDH1 MODERATE|MISSENSE|Gtt/Att|V202I|821|CDH1|protein_coding|CODING|ENST00000422392|exon_16_68842596_68842751 0/1:99:209,0,255 . . . 16 68842668 . G A NON_SYNONYMOUS_CODING CDH1 MODERATE|MISSENSE|Gtt/Att|V202I|882|CDH1|protein_coding|CODING|ENST00000261769|exon_16_68842596_68842751 0/1:99:209,0,255 . . . 16 68842668 . G A NON_SYNONYMOUS_CODING CDH1 MODERATE|MISSENSE|Gtt/Att|V202I|882|CDH1|protein_coding|CODING|ENST00000565435|exon_16_68842596_68842751 0/1:99:209,0,255 . . . 16 68842668 . G A NON_SYNONYMOUS_CODING CDH1 MODERATE|MISSENSE|Gtt/Att|V202I|900|CDH1|protein_coding|CODING|ENST00000379120|exon_16_68842596_68842751 0/1:99:209,0,255 . . . 16 69143816 rs2232229 G A NON_SYNONYMOUS_CODING HAS3 MODERATE|MISSENSE|cGt/cAt|R173H|263|HAS3|protein_coding|CODING|ENST00000566118|exon_16_69143299_69143934 . . 0/1:99:209,0,255 . 16 69143816 rs2232229 G A NON_SYNONYMOUS_CODING HAS3 MODERATE|MISSENSE|cGt/cAt|R173H|281|HAS3|protein_coding|CODING|ENST00000219322|exon_16_69143299_69143934 . . 0/1:99:209,0,255 . 16 69143816 rs2232229 G A NON_SYNONYMOUS_CODING HAS3 MODERATE|MISSENSE|cGt/cAt|R173H|553|HAS3|protein_coding|CODING|ENST00000306560|exon_16_69143299_69143934 . . 0/1:99:209,0,255 . 16 69143816 rs2232229 G A NON_SYNONYMOUS_CODING HAS3 MODERATE|MISSENSE|cGt/cAt|R173H|553|HAS3|protein_coding|CODING|ENST00000569188|exon_16_69143299_69143934 . . 0/1:99:209,0,255 . 16 69201050 rs61185783 C T NON_SYNONYMOUS_CODING CIRH1A MODERATE|MISSENSE|Cgc/Tgc|R521C|571|CIRH1A|protein_coding|CODING|ENST00000352319|exon_16_69200978_69201088 . . . 0/1:99:200,0,255 16 69201050 rs61185783 C T NON_SYNONYMOUS_CODING CIRH1A MODERATE|MISSENSE|Cgc/Tgc|R636C|686|CIRH1A|protein_coding|CODING|ENST00000314423|exon_16_69200978_69201088 . . . 0/1:99:200,0,255 16 69201050 rs61185783 C T NON_SYNONYMOUS_CODING CIRH1A MODERATE|MISSENSE|Cgc/Tgc|R650C|700|CIRH1A|protein_coding|CODING|ENST00000562237|exon_16_69200978_69201088 . . . 0/1:99:200,0,255 16 69745145 rs1800566 G A NON_SYNONYMOUS_CODING NQO1 MODERATE|MISSENSE|Cct/Tct|P115S|202|NQO1|protein_coding|CODING|ENST00000439109|exon_16_69744685_69745184 . 0/1:99:255,0,255 0/1:99:253,0,255 0/1:99:255,0,208 16 69745145 rs1800566 G A NON_SYNONYMOUS_CODING NQO1 MODERATE|MISSENSE|Cct/Tct|P149S|236|NQO1|protein_coding|CODING|ENST00000379046|exon_16_69744630_69745184 . 0/1:99:255,0,255 0/1:99:253,0,255 0/1:99:255,0,208 16 69745145 rs1800566 G A NON_SYNONYMOUS_CODING NQO1 MODERATE|MISSENSE|Cct/Tct|P149S|269|NQO1|protein_coding|CODING|ENST00000561500|exon_16_69744978_69745184 . 0/1:99:255,0,255 0/1:99:253,0,255 0/1:99:255,0,208 16 69745145 rs1800566 G A NON_SYNONYMOUS_CODING NQO1 MODERATE|MISSENSE|Cct/Tct|P153S|240|NQO1|protein_coding|CODING|ENST00000379047|exon_16_69743304_69745184 . 0/1:99:255,0,255 0/1:99:253,0,255 0/1:99:255,0,208 16 69745145 rs1800566 G A NON_SYNONYMOUS_CODING NQO1 MODERATE|MISSENSE|Cct/Tct|P166S|253|NQO1|protein_coding|CODING|ENST00000564043|exon_16_69744865_69745184 . 0/1:99:255,0,255 0/1:99:253,0,255 0/1:99:255,0,208 16 69745145 rs1800566 G A NON_SYNONYMOUS_CODING NQO1 MODERATE|MISSENSE|Cct/Tct|P187S|274|NQO1|protein_coding|CODING|ENST00000320623|exon_16_69743304_69745184 . 0/1:99:255,0,255 0/1:99:253,0,255 0/1:99:255,0,208 16 70154480 rs200469748 A G NON_SYNONYMOUS_CODING PDPR MODERATE|MISSENSE|Acg/Gcg|T29A|879|PDPR|protein_coding|CODING|ENST00000288050|exon_16_70154364_70154622 . . . 0/1:66:63,0,255 16 70154480 rs200469748 A G NON_SYNONYMOUS_CODING PDPR MODERATE|MISSENSE|Acg/Gcg|T29A|879|PDPR|protein_coding|CODING|ENST00000568530|exon_16_70154364_70154622 . . . 0/1:66:63,0,255 16 70211226 rs150357848 T C NON_SYNONYMOUS_CODING CLEC18C MODERATE|MISSENSE|cTg/cCg|L100P|118|CLEC18C|protein_coding|CODING|ENST00000565806|exon_16_70211144_70211285 1/1:15:52,9,0 . . . 16 70211226 rs150357848 T C NON_SYNONYMOUS_CODING CLEC18C MODERATE|MISSENSE|cTg/cCg|L100P|303|CLEC18C|protein_coding|CODING|ENST00000433156|exon_16_70211144_70211383 1/1:15:52,9,0 . . . 16 70211226 rs150357848 T C NON_SYNONYMOUS_CODING CLEC18C MODERATE|MISSENSE|cTg/cCg|L100P|446|CLEC18C|protein_coding|CODING|ENST00000314151|exon_16_70211144_70211383 1/1:15:52,9,0 . . . 16 70211226 rs150357848 T C NON_SYNONYMOUS_CODING CLEC18C MODERATE|MISSENSE|cTg/cCg|L100P|446|CLEC18C|protein_coding|CODING|ENST00000541793|exon_16_70211144_70211383 1/1:15:52,9,0 . . . 16 70211226 rs150357848 T C NON_SYNONYMOUS_CODING CLEC18C MODERATE|MISSENSE|cTg/cCg|L100P|446|CLEC18C|protein_coding|CODING|ENST00000569347|exon_16_70211144_70211383 1/1:15:52,9,0 . . . 16 70211226 rs150357848 T C NON_SYNONYMOUS_CODING CLEC18C MODERATE|MISSENSE|cTg/cCg|L100P|455|CLEC18C|protein_coding|CODING|ENST00000536907|exon_16_70211144_70211383 1/1:15:52,9,0 . . . 16 70285400 rs200071202 C G NON_SYNONYMOUS_CODING EXOSC6 MODERATE|MISSENSE|cGc/cCc|R135P|272|EXOSC6|protein_coding|CODING|ENST00000435634|exon_16_70284134_70285833 . . 0/1:68:65,0,89 . 16 70503095 rs113497209 A G NON_SYNONYMOUS_CODING FUK MODERATE|MISSENSE|aAc/aGc|N275S|1084|FUK|protein_coding|CODING|ENST00000288078|exon_16_70503055_70503226 . . 0/1:99:247,0,255 . 16 70503095 rs113497209 A G NON_SYNONYMOUS_CODING FUK MODERATE|MISSENSE|aAc/aGc|N307S|1090|FUK|protein_coding|CODING|ENST00000378912|exon_16_70503055_70503226 . . 0/1:99:247,0,255 . 16 70507115 . C T NON_SYNONYMOUS_CODING FUK MODERATE|MISSENSE|Cgc/Tgc|R546C|1084|FUK|protein_coding|CODING|ENST00000288078|exon_16_70506886_70507256 0/1:99:181,0,246 . . . 16 70507115 . C T NON_SYNONYMOUS_CODING FUK MODERATE|MISSENSE|Cgc/Tgc|R578C|1090|FUK|protein_coding|CODING|ENST00000378912|exon_16_70506886_70507256 0/1:99:181,0,246 . . . 16 70993639 rs200979879 C T NON_SYNONYMOUS_CODING HYDIN MODERATE|MISSENSE|cGc/cAc|R2017H|5120|HYDIN|protein_coding|CODING|ENST00000316490|exon_16_70993550_70993723 0/1:54:51,0,78 . . . 16 70993639 rs200979879 C T NON_SYNONYMOUS_CODING HYDIN MODERATE|MISSENSE|cGc/cAc|R2018H|5121|HYDIN|protein_coding|CODING|ENST00000393567|exon_16_70993550_70993723 0/1:54:51,0,78 . . . 16 71318577 rs3803704 T C NON_SYNONYMOUS_CODING FTSJD1 MODERATE|MISSENSE|aAt/aGt|N416S|770|FTSJD1|protein_coding|CODING|ENST00000338099|exon_16_71315292_71319842 . 1/1:99:255,129,0 0/1:99:255,0,255 . 16 71318577 rs3803704 T C NON_SYNONYMOUS_CODING FTSJD1 MODERATE|MISSENSE|aAt/aGt|N416S|770|FTSJD1|protein_coding|CODING|ENST00000434935|exon_16_71316203_71319842 . 1/1:99:255,129,0 0/1:99:255,0,255 . 16 71487952 rs11641967 G T NON_SYNONYMOUS_CODING ZNF23 MODERATE|MISSENSE|Ctc/Atc|L25I|41|ZNF23|protein_coding|CODING|ENST00000567340|exon_16_71487945_71488121 . 1/1:99:255,93,0 . . 16 71509779 rs10500557 C T NON_SYNONYMOUS_CODING ZNF19 MODERATE|MISSENSE|cGa/cAa|R154Q|388|ZNF19|protein_coding|CODING|ENST00000565100|exon_16_71508287_71510175 . . 0/1:99:255,0,255 . 16 71509779 rs10500557 C T NON_SYNONYMOUS_CODING ZNF19 MODERATE|MISSENSE|cGa/cAa|R182Q|416|ZNF19|protein_coding|CODING|ENST00000565637|exon_16_71508282_71510175 . . 0/1:99:255,0,255 . 16 71509779 rs10500557 C T NON_SYNONYMOUS_CODING ZNF19 MODERATE|MISSENSE|cGa/cAa|R212Q|446|ZNF19|protein_coding|CODING|ENST00000563817|exon_16_71507493_71510175 . . 0/1:99:255,0,255 . 16 71509779 rs10500557 C T NON_SYNONYMOUS_CODING ZNF19 MODERATE|MISSENSE|cGa/cAa|R224Q|458|ZNF19|protein_coding|CODING|ENST00000288177|exon_16_71507493_71510175 . . 0/1:99:255,0,255 . 16 71509779 rs10500557 C T NON_SYNONYMOUS_CODING ZNF19 MODERATE|MISSENSE|cGa/cAa|R224Q|458|ZNF19|protein_coding|CODING|ENST00000564230|exon_16_71508713_71510175 . . 0/1:99:255,0,255 . 16 71610276 rs74344827 G A NON_SYNONYMOUS_CODING TAT MODERATE|MISSENSE|Ccc/Tcc|P15S|454|TAT|protein_coding|CODING|ENST00000355962|exon_16_71610084_71610330 . 1/1:99:255,108,0 . . 16 71660404 rs61753635 G A NON_SYNONYMOUS_CODING MARVELD3 MODERATE|MISSENSE|cGg/cAg|R91Q|148|MARVELD3|protein_coding|CODING|ENST00000565261|exon_16_71660087_71660436 . 0/1:99:215,0,255 . . 16 71660404 rs61753635 G A NON_SYNONYMOUS_CODING MARVELD3 MODERATE|MISSENSE|cGg/cAg|R91Q|401|MARVELD3|protein_coding|CODING|ENST00000268485|exon_16_71660089_71660599 . 0/1:99:215,0,255 . . 16 71660404 rs61753635 G A NON_SYNONYMOUS_CODING MARVELD3 MODERATE|MISSENSE|cGg/cAg|R91Q|410|MARVELD3|protein_coding|CODING|ENST00000299952|exon_16_71660090_71660599 . 0/1:99:215,0,255 . . 16 71682830 rs61733124 C T NON_SYNONYMOUS_CODING PHLPP2 MODERATE|MISSENSE|cGg/cAg|R1245Q|1256|PHLPP2|protein_coding|CODING|ENST00000393524|exon_16_71678831_71683947 . 0/1:99:136,0,179 . 0/1:99:169,0,154 16 71682830 rs61733124 C T NON_SYNONYMOUS_CODING PHLPP2 MODERATE|MISSENSE|cGg/cAg|R1312Q|1323|PHLPP2|protein_coding|CODING|ENST00000356272|exon_16_71678852_71683947 . 0/1:99:136,0,179 . 0/1:99:169,0,154 16 71682830 rs61733124 C T NON_SYNONYMOUS_CODING PHLPP2 MODERATE|MISSENSE|cGg/cAg|R1312Q|1323|PHLPP2|protein_coding|CODING|ENST00000568954|exon_16_71678827_71683947 . 0/1:99:136,0,179 . 0/1:99:169,0,154 16 71682830 rs61733124 C T NON_SYNONYMOUS_CODING PHLPP2 MODERATE|MISSENSE|cGg/cAg|R1347Q|1358|PHLPP2|protein_coding|CODING|ENST00000567016|exon_16_71682073_71683947 . 0/1:99:136,0,179 . 0/1:99:169,0,154 16 71683718 rs61733127 A G NON_SYNONYMOUS_CODING PHLPP2 MODERATE|MISSENSE|tTa/tCa|L1016S|1323|PHLPP2|protein_coding|CODING|ENST00000356272|exon_16_71678852_71683947 . 0/1:99:255,0,213 . . 16 71683718 rs61733127 A G NON_SYNONYMOUS_CODING PHLPP2 MODERATE|MISSENSE|tTa/tCa|L1016S|1323|PHLPP2|protein_coding|CODING|ENST00000568954|exon_16_71678827_71683947 . 0/1:99:255,0,213 . . 16 71683718 rs61733127 A G NON_SYNONYMOUS_CODING PHLPP2 MODERATE|MISSENSE|tTa/tCa|L1051S|1358|PHLPP2|protein_coding|CODING|ENST00000567016|exon_16_71682073_71683947 . 0/1:99:255,0,213 . . 16 71683718 rs61733127 A G NON_SYNONYMOUS_CODING PHLPP2 MODERATE|MISSENSE|tTa/tCa|L949S|1256|PHLPP2|protein_coding|CODING|ENST00000393524|exon_16_71678831_71683947 . 0/1:99:255,0,213 . . 16 71961624 . A G NON_SYNONYMOUS_CODING IST1 MODERATE|MISSENSE|Act/Gct|T189A|218|IST1|protein_coding|CODING|ENST00000538565|exon_16_71961517_71962242 0/1:99:255,0,255 . . . 16 71961624 . A G NON_SYNONYMOUS_CODING IST1 MODERATE|MISSENSE|Act/Gct|T189A|218|IST1|protein_coding|CODING|ENST00000538850|exon_16_71961517_71962055 0/1:99:255,0,255 . . . 16 71961624 . A G NON_SYNONYMOUS_CODING IST1 MODERATE|MISSENSE|Act/Gct|T260A|289|IST1|protein_coding|CODING|ENST00000456820|exon_16_71961517_71962877 0/1:99:255,0,255 . . . 16 71961624 . A G NON_SYNONYMOUS_CODING IST1 MODERATE|MISSENSE|Act/Gct|T306A|335|IST1|protein_coding|CODING|ENST00000378798|exon_16_71961517_71962911 0/1:99:255,0,255 . . . 16 71961624 . A G NON_SYNONYMOUS_CODING IST1 MODERATE|MISSENSE|Act/Gct|T326A|355|IST1|protein_coding|CODING|ENST00000538963|exon_16_71961517_71961896 0/1:99:255,0,255 . . . 16 71961624 . A G NON_SYNONYMOUS_CODING IST1 MODERATE|MISSENSE|Act/Gct|T337A|366|IST1|protein_coding|CODING|ENST00000378799|exon_16_71961517_71962913 0/1:99:255,0,255 . . . 16 71961624 . A G NON_SYNONYMOUS_CODING IST1 MODERATE|MISSENSE|Act/Gct|T337A|366|IST1|protein_coding|CODING|ENST00000541571|exon_16_71961517_71961876 0/1:99:255,0,255 . . . 16 71961624 . A G NON_SYNONYMOUS_CODING IST1 MODERATE|MISSENSE|Act/Gct|T337A|366|IST1|protein_coding|CODING|ENST00000544564|exon_16_71961517_71961793 0/1:99:255,0,255 . . . 16 71961624 . A G NON_SYNONYMOUS_CODING IST1 MODERATE|MISSENSE|Act/Gct|T350A|379|IST1|protein_coding|CODING|ENST00000535424|exon_16_71961517_71961876 0/1:99:255,0,255 . . . 16 72107865 rs11642506 C T NON_SYNONYMOUS_CODING HPR MODERATE|MISSENSE|aCg/aTg|T27M|348|HPR|protein_coding|CODING|ENST00000356967|exon_16_72107791_72107876 . 0/1:99:255,0,255 . . 16 72107865 rs11642506 C T NON_SYNONYMOUS_CODING HPR MODERATE|MISSENSE|aCg/aTg|T27M|348|HPR|protein_coding|CODING|ENST00000540303|exon_16_72107791_72107876 . 0/1:99:255,0,255 . . 16 72107865 rs11642506 C T NON_SYNONYMOUS_CODING HPR MODERATE|MISSENSE|aCg/aTg|T64M|385|HPR|protein_coding|CODING|ENST00000228226|exon_16_72107675_72107876 . 0/1:99:255,0,255 . . 16 72154010 rs72787072 C T NON_SYNONYMOUS_CODING PMFBP1 MODERATE|MISSENSE|cGt/cAt|R791H|882|PMFBP1|protein_coding|CODING|ENST00000355636|exon_16_72153750_72154048 . . 0/1:99:255,0,255 . 16 72162966 rs34832584 G T NON_SYNONYMOUS_CODING PMFBP1 MODERATE|MISSENSE|aCg/aAg|T505K|882|PMFBP1|protein_coding|CODING|ENST00000355636|exon_16_72162965_72163132 0/1:99:255,0,255 0/1:99:237,0,255 0/1:99:255,0,234 . 16 72162966 rs34832584 G T NON_SYNONYMOUS_CODING PMFBP1 MODERATE|MISSENSE|aCg/aAg|T650K|1007|PMFBP1|protein_coding|CODING|ENST00000237353|exon_16_72162965_72163132 0/1:99:255,0,255 0/1:99:237,0,255 0/1:99:255,0,234 . 16 72162966 rs34832584 G T NON_SYNONYMOUS_CODING PMFBP1 MODERATE|MISSENSE|aCg/aAg|T655K|1022|PMFBP1|protein_coding|CODING|ENST00000537465|exon_16_72162965_72163132 0/1:99:255,0,255 0/1:99:237,0,255 0/1:99:255,0,234 . 16 72164487 . G C NON_SYNONYMOUS_CODING PMFBP1 MODERATE|MISSENSE|Ctt/Gtt|L383V|882|PMFBP1|protein_coding|CODING|ENST00000355636|exon_16_72164432_72164621 . . . 0/1:99:253,0,157 16 72164487 . G C NON_SYNONYMOUS_CODING PMFBP1 MODERATE|MISSENSE|Ctt/Gtt|L528V|1007|PMFBP1|protein_coding|CODING|ENST00000237353|exon_16_72164432_72164621 . . . 0/1:99:253,0,157 16 72164487 . G C NON_SYNONYMOUS_CODING PMFBP1 MODERATE|MISSENSE|Ctt/Gtt|L533V|1022|PMFBP1|protein_coding|CODING|ENST00000537465|exon_16_72164432_72164621 . . . 0/1:99:253,0,157 16 72184566 rs35370634 C T NON_SYNONYMOUS_CODING PMFBP1 MODERATE|MISSENSE|Gag/Aag|E193K|1007|PMFBP1|protein_coding|CODING|ENST00000237353|exon_16_72184507_72184728 0/1:99:255,0,255 0/1:99:255,0,255 0/1:99:255,0,255 . 16 72184566 rs35370634 C T NON_SYNONYMOUS_CODING PMFBP1 MODERATE|MISSENSE|Gag/Aag|E193K|1022|PMFBP1|protein_coding|CODING|ENST00000537465|exon_16_72184507_72184728 0/1:99:255,0,255 0/1:99:255,0,255 0/1:99:255,0,255 . 16 72184566 rs35370634 C T NON_SYNONYMOUS_CODING PMFBP1 MODERATE|MISSENSE|Gag/Aag|E48K|882|PMFBP1|protein_coding|CODING|ENST00000355636|exon_16_72184507_72184728 0/1:99:255,0,255 0/1:99:255,0,255 0/1:99:255,0,255 . 16 72821638 rs200561133 T C NON_SYNONYMOUS_CODING ZFHX3 MODERATE|MISSENSE|Agt/Ggt|S2599G|2789|ZFHX3|protein_coding|CODING|ENST00000397992|exon_16_72820954_72822747 0/1:6:104,0,3 . . . 16 72821638 rs200561133 T C NON_SYNONYMOUS_CODING ZFHX3 MODERATE|MISSENSE|Agt/Ggt|S3513G|3703|ZFHX3|protein_coding|CODING|ENST00000268489|exon_16_72816784_72822747 0/1:6:104,0,3 . . . 16 72831111 rs79037957 G C NON_SYNONYMOUS_CODING ZFHX3 MODERATE|MISSENSE|Ctg/Gtg|L1824V|3703|ZFHX3|protein_coding|CODING|ENST00000268489|exon_16_72827154_72832613 . 0/1:99:255,0,219 . . 16 72831111 rs79037957 G C NON_SYNONYMOUS_CODING ZFHX3 MODERATE|MISSENSE|Ctg/Gtg|L910V|2789|ZFHX3|protein_coding|CODING|ENST00000397992|exon_16_72827154_72832613 . 0/1:99:255,0,219 . . 16 74425299 rs10468354 C T NON_SYNONYMOUS_CODING NPIPL2 MODERATE|MISSENSE|gCg/gTg|A218V|443|NPIPL2|protein_coding|CODING|ENST00000429990|exon_16_74425289_74425978 . . 0/1:99:140,0,111 . 16 74425299 rs10468354 C T NON_SYNONYMOUS_CODING NPIPL2 MODERATE|MISSENSE|gCg/gTg|A96V|304|NPIPL2|protein_coding|CODING|ENST00000504746|exon_16_74425289_74425741 . . 0/1:99:140,0,111 . 16 75590034 . A G NON_SYNONYMOUS_CODING TMEM231 MODERATE|MISSENSE|Tgt/Cgt|C22R|345|TMEM231|protein_coding|CODING|ENST00000398114|exon_16_75589702_75590136 0/1:99:242,0,171 . . . 16 75590034 . A G NON_SYNONYMOUS_CODING TMEM231 MODERATE|MISSENSE|cTg/cCg|L25P|268|TMEM231|protein_coding|CODING|ENST00000565067|exon_16_75589969_75590138 0/1:99:242,0,171 . . . 16 75590034 . A G NON_SYNONYMOUS_CODING TMEM231 MODERATE|MISSENSE|cTg/cCg|L25P|316|TMEM231|protein_coding|CODING|ENST00000258173|exon_16_75589969_75590176 0/1:99:242,0,171 . . . 16 75690279 rs4888444 A G NON_SYNONYMOUS_CODING TERF2IP MODERATE|MISSENSE|Aag/Gag|K324E|399|TERF2IP|protein_coding|CODING|ENST00000300086|exon_16_75690105_75691330 . 0/1:99:255,0,255 . . 16 77246517 rs62049594 C A NON_SYNONYMOUS_CODING SYCE1L MODERATE|MISSENSE|Ccc/Acc|P10T|24|SYCE1L|protein_coding|CODING|ENST00000563157|exon_16_77246490_77246543 1/1:99:255,90,0 0/1:99:231,0,235 0/1:99:228,0,161 . 16 77246517 rs62049594 C A NON_SYNONYMOUS_CODING SYCE1L MODERATE|MISSENSE|Ccc/Acc|P210T|242|SYCE1L|protein_coding|CODING|ENST00000378644|exon_16_77246471_77246543 1/1:99:255,90,0 0/1:99:231,0,235 0/1:99:228,0,161 . 16 78312527 rs77067228 A G NON_SYNONYMOUS_CODING WWOX MODERATE|MISSENSE|Aag/Gag|K182E|189|WWOX|protein_coding|CODING|ENST00000355860|exon_16_78312500_78312593 . . 0/1:99:169,0,255 0/1:99:163,0,255 16 79245686 rs117065412 C A NON_SYNONYMOUS_CODING WWOX MODERATE|MISSENSE|Ccg/Acg|P252T|364|WWOX|protein_coding|CODING|ENST00000299644|exon_16_79245680_79245757 . . . 0/1:99:131,0,200 16 79245686 rs117065412 C A NON_SYNONYMOUS_CODING WWOX MODERATE|MISSENSE|tCc/tAc|S233Y|234|WWOX|protein_coding|CODING|ENST00000406884|exon_16_79245505_79246564 . . . 0/1:99:131,0,200 16 79245686 rs117065412 C A NON_SYNONYMOUS_CODING WWOX MODERATE|MISSENSE|tCc/tAc|S413Y|414|WWOX|protein_coding|CODING|ENST00000566780|exon_16_79245505_79246564 . . . 0/1:99:131,0,200 16 80577218 . G T NON_SYNONYMOUS_CODING DYNLRB2 MODERATE|MISSENSE|Gtt/Ttt|V17F|40|DYNLRB2|protein_coding|CODING|ENST00000568035|exon_16_80577173_80577248 0/1:99:255,0,255 . . . 16 80577218 . G T NON_SYNONYMOUS_CODING DYNLRB2 MODERATE|MISSENSE|Gtt/Ttt|V17F|96|DYNLRB2|protein_coding|CODING|ENST00000305904|exon_16_80577173_80577248 0/1:99:255,0,255 . . . 16 80577218 . G T NON_SYNONYMOUS_CODING DYNLRB2 MODERATE|MISSENSE|Gtt/Ttt|V46F|125|DYNLRB2|protein_coding|CODING|ENST00000562982|exon_16_80577173_80577248 0/1:99:255,0,255 . . . 16 81094885 rs9930623 T C NON_SYNONYMOUS_CODING C16orf46 MODERATE|MISSENSE|Aag/Gag|K357E|388|C16orf46|protein_coding|CODING|ENST00000378611|exon_16_81094811_81095743 . . 0/1:99:255,0,149 . 16 81094885 rs9930623 T C NON_SYNONYMOUS_CODING C16orf46 MODERATE|MISSENSE|Aag/Gag|K357E|395|C16orf46|protein_coding|CODING|ENST00000299578|exon_16_81094592_81095743 . . 0/1:99:255,0,149 . 16 81124216 rs8177877 T C NON_SYNONYMOUS_CODING GCSH MODERATE|MISSENSE|aAt/aGt|N73S|162|GCSH|protein_coding|CODING|ENST00000566566|exon_16_81124206_81124285 . . 0/1:99:255,0,255 . 16 81124216 rs8177877 T C NON_SYNONYMOUS_CODING GCSH MODERATE|MISSENSE|aAt/aGt|N73S|173|GCSH|protein_coding|CODING|ENST00000315467|exon_16_81124206_81124285 . . 0/1:99:255,0,255 . 16 81249927 rs7185774 C T NON_SYNONYMOUS_CODING PKD1L2 MODERATE|MISSENSE|gGc/gAc|G129D|991|PKD1L2|protein_coding|CODING|ENST00000337114|exon_16_81249850_81250011 0/1:99:198,0,231 1/1:99:255,84,0 0/1:99:210,0,230 0/1:99:215,0,245 16 81323953 rs143238312 G C NON_SYNONYMOUS_CODING BCMO1 MODERATE|MISSENSE|gGa/gCa|G403A|478|BCMO1|protein_coding|CODING|ENST00000425577|exon_16_81323953_81324305 . 0/1:99:255,0,197 . . 16 81323953 rs143238312 G C NON_SYNONYMOUS_CODING BCMO1 MODERATE|MISSENSE|gGa/gCa|G472A|547|BCMO1|protein_coding|CODING|ENST00000258168|exon_16_81323953_81324747 . 0/1:99:255,0,197 . . 16 81916912 rs11548656 A G NON_SYNONYMOUS_CODING PLCG2 MODERATE|MISSENSE|cAt/cGt|H244R|1265|PLCG2|protein_coding|CODING|ENST00000359376|exon_16_81916874_81916946 . . . 0/1:99:178,0,247 16 83940604 rs147617160 G A NON_SYNONYMOUS_CODING MLYCD MODERATE|MISSENSE|Gtg/Atg|V181M|493|MLYCD|protein_coding|CODING|ENST00000262430|exon_16_83940592_83940704 0/1:99:255,0,226 . . . 16 83982670 rs2432561 G A NON_SYNONYMOUS_CODING OSGIN1 MODERATE|MISSENSE|Gag/Aag|E17K|104|OSGIN1|protein_coding|CODING|ENST00000561552|exon_16_83982642_83982712 . . 0/1:99:255,0,221 . 16 84089622 rs146299475 C T NON_SYNONYMOUS_CODING MBTPS1 MODERATE|MISSENSE|Gac/Aac|D429N|497|MBTPS1|protein_coding|CODING|ENST00000347334|exon_16_84089610_84089740 . 0/1:99:173,0,248 . . 16 84089622 rs146299475 C T NON_SYNONYMOUS_CODING MBTPS1 MODERATE|MISSENSE|Gac/Aac|D984N|1052|MBTPS1|protein_coding|CODING|ENST00000343411|exon_16_84089610_84089740 . 0/1:99:173,0,248 . . 16 84132837 rs141669553 T C NON_SYNONYMOUS_CODING MBTPS1 MODERATE|MISSENSE|gAa/gGa|E81G|1052|MBTPS1|protein_coding|CODING|ENST00000343411|exon_16_84132658_84132915 . . . 0/1:99:254,0,222 16 84203730 rs9972733 G C NON_SYNONYMOUS_CODING DNAAF1 MODERATE|MISSENSE|gaG/gaC|E432D|725|DNAAF1|protein_coding|CODING|ENST00000378553|exon_16_84203465_84203962 0/1:99:104,0,218 0/1:99:255,0,150 0/1:99:153,0,157 . 16 84212710 rs4150176 C T NON_SYNONYMOUS_CODING TAF1C MODERATE|MISSENSE|cGt/cAt|R484H|537|TAF1C|protein_coding|CODING|ENST00000570117|exon_16_84212454_84213457 0/1:99:214,0,151 . . . 16 84212710 rs4150176 C T NON_SYNONYMOUS_CODING TAF1C MODERATE|MISSENSE|cGt/cAt|R722H|775|TAF1C|protein_coding|CODING|ENST00000341690|exon_16_84211458_84213457 0/1:99:214,0,151 . . . 16 84212710 rs4150176 C T NON_SYNONYMOUS_CODING TAF1C MODERATE|MISSENSE|cGt/cAt|R723H|776|TAF1C|protein_coding|CODING|ENST00000541676|exon_16_84211464_84213457 0/1:99:214,0,151 . . . 16 84212710 rs4150176 C T NON_SYNONYMOUS_CODING TAF1C MODERATE|MISSENSE|cGt/cAt|R790H|843|TAF1C|protein_coding|CODING|ENST00000566732|exon_16_84212318_84213457 0/1:99:214,0,151 . . . 16 84212710 rs4150176 C T NON_SYNONYMOUS_CODING TAF1C MODERATE|MISSENSE|cGt/cAt|R816H|869|TAF1C|protein_coding|CODING|ENST00000378541|exon_16_84211464_84213457 0/1:99:214,0,151 . . . 16 84212710 rs4150176 C T NON_SYNONYMOUS_CODING TAF1C MODERATE|MISSENSE|cGt/cAt|R816H|869|TAF1C|protein_coding|CODING|ENST00000567759|exon_16_84211461_84213457 0/1:99:214,0,151 . . . 16 84212779 rs2230131 G A NON_SYNONYMOUS_CODING TAF1C MODERATE|MISSENSE|cCg/cTg|P461L|537|TAF1C|protein_coding|CODING|ENST00000570117|exon_16_84212454_84213457 . . . 0/1:57:214,0,54 16 84212779 rs2230131 G A NON_SYNONYMOUS_CODING TAF1C MODERATE|MISSENSE|cCg/cTg|P699L|775|TAF1C|protein_coding|CODING|ENST00000341690|exon_16_84211458_84213457 . . . 0/1:57:214,0,54 16 84212779 rs2230131 G A NON_SYNONYMOUS_CODING TAF1C MODERATE|MISSENSE|cCg/cTg|P700L|776|TAF1C|protein_coding|CODING|ENST00000541676|exon_16_84211464_84213457 . . . 0/1:57:214,0,54 16 84212779 rs2230131 G A NON_SYNONYMOUS_CODING TAF1C MODERATE|MISSENSE|cCg/cTg|P767L|843|TAF1C|protein_coding|CODING|ENST00000566732|exon_16_84212318_84213457 . . . 0/1:57:214,0,54 16 84212779 rs2230131 G A NON_SYNONYMOUS_CODING TAF1C MODERATE|MISSENSE|cCg/cTg|P793L|869|TAF1C|protein_coding|CODING|ENST00000378541|exon_16_84211464_84213457 . . . 0/1:57:214,0,54 16 84212779 rs2230131 G A NON_SYNONYMOUS_CODING TAF1C MODERATE|MISSENSE|cCg/cTg|P793L|869|TAF1C|protein_coding|CODING|ENST00000567759|exon_16_84211461_84213457 . . . 0/1:57:214,0,54 16 84230300 rs142962765 G A NON_SYNONYMOUS_CODING ADAD2 MODERATE|MISSENSE|cGg/cAg|R525Q|583|ADAD2|protein_coding|CODING|ENST00000315906|exon_16_84230253_84230373 . . . 0/1:99:255,0,220 16 84230300 rs142962765 G A NON_SYNONYMOUS_CODING ADAD2 MODERATE|MISSENSE|cGg/cAg|R607Q|665|ADAD2|protein_coding|CODING|ENST00000268624|exon_16_84230253_84230373 . . . 0/1:99:255,0,220 16 84230347 rs112789102 G T NON_SYNONYMOUS_CODING ADAD2 MODERATE|MISSENSE|Gcc/Tcc|A541S|583|ADAD2|protein_coding|CODING|ENST00000315906|exon_16_84230253_84230373 0/1:99:212,0,254 . . . 16 84230347 rs112789102 G T NON_SYNONYMOUS_CODING ADAD2 MODERATE|MISSENSE|Gcc/Tcc|A623S|665|ADAD2|protein_coding|CODING|ENST00000268624|exon_16_84230253_84230373 0/1:99:212,0,254 . . . 16 84256422 rs4782905 C T NON_SYNONYMOUS_CODING KCNG4 MODERATE|MISSENSE|Gag/Aag|E321K|519|KCNG4|protein_coding|CODING|ENST00000308251|exon_16_84255823_84256626 . . 0/1:99:255,0,138 . 16 84346675 . G A NON_SYNONYMOUS_CODING WFDC1 MODERATE|MISSENSE|Gcg/Acg|A85T|220|WFDC1|protein_coding|CODING|ENST00000219454|exon_16_84346567_84346759 . . . 0/1:51:168,0,48 16 84346675 . G A NON_SYNONYMOUS_CODING WFDC1 MODERATE|MISSENSE|Gcg/Acg|A85T|220|WFDC1|protein_coding|CODING|ENST00000568638|exon_16_84346567_84346759 . . . 0/1:51:168,0,48 16 84353156 rs35464240 G A NON_SYNONYMOUS_CODING WFDC1 MODERATE|MISSENSE|Gtc/Atc|V181I|220|WFDC1|protein_coding|CODING|ENST00000219454|exon_16_84353037_84353177 . . 0/1:99:255,0,161 . 16 84353156 rs35464240 G A NON_SYNONYMOUS_CODING WFDC1 MODERATE|MISSENSE|Gtc/Atc|V181I|220|WFDC1|protein_coding|CODING|ENST00000568638|exon_16_84353037_84353177 . . 0/1:99:255,0,161 . 16 84360533 rs12933084 A G NON_SYNONYMOUS_CODING WFDC1 MODERATE|MISSENSE|aAg/aGg|K217R|220|WFDC1|protein_coding|CODING|ENST00000219454|exon_16_84360488_84360561 . . . 1/1:99:255,66,0 16 84360533 rs12933084 A G NON_SYNONYMOUS_CODING WFDC1 MODERATE|MISSENSE|aAg/aGg|K217R|220|WFDC1|protein_coding|CODING|ENST00000568638|exon_16_84360488_84360561 . . . 1/1:99:255,66,0 16 84531664 rs8046813 C A NON_SYNONYMOUS_CODING KIAA1609 MODERATE|MISSENSE|cGg/cTg|R10L|147|KIAA1609|protein_coding|CODING|ENST00000565079|exon_16_84531540_84531717 . . 0/1:99:219,0,255 . 16 84531664 rs8046813 C A NON_SYNONYMOUS_CODING KIAA1609 MODERATE|MISSENSE|cGg/cTg|R10L|44|KIAA1609|protein_coding|CODING|ENST00000565765|exon_16_84531557_84531717 . . 0/1:99:219,0,255 . 16 84531664 rs8046813 C A NON_SYNONYMOUS_CODING KIAA1609 MODERATE|MISSENSE|cGg/cTg|R10L|456|KIAA1609|protein_coding|CODING|ENST00000343629|exon_16_84531540_84531717 . . 0/1:99:219,0,255 . 16 84531664 rs8046813 C A NON_SYNONYMOUS_CODING KIAA1609 MODERATE|MISSENSE|cGg/cTg|R10L|82|KIAA1609|protein_coding|CODING|ENST00000562447|exon_16_84531540_84531717 . . 0/1:99:219,0,255 . 16 84902483 rs72799568 A T NON_SYNONYMOUS_CODING CRISPLD2 MODERATE|MISSENSE|Atg/Ttg|M137L|208|CRISPLD2|protein_coding|CODING|ENST00000563066|exon_16_84902457_84902517 . . . 0/1:99:168,0,220 16 84902483 rs72799568 A T NON_SYNONYMOUS_CODING CRISPLD2 MODERATE|MISSENSE|Atg/Ttg|M293L|496|CRISPLD2|protein_coding|CODING|ENST00000567845|exon_16_84902457_84902517 . . . 0/1:99:168,0,220 16 84902483 rs72799568 A T NON_SYNONYMOUS_CODING CRISPLD2 MODERATE|MISSENSE|Atg/Ttg|M294L|449|CRISPLD2|protein_coding|CODING|ENST00000564567|exon_16_84902457_84902517 . . . 0/1:99:168,0,220 16 84902483 rs72799568 A T NON_SYNONYMOUS_CODING CRISPLD2 MODERATE|MISSENSE|Atg/Ttg|M294L|497|CRISPLD2|protein_coding|CODING|ENST00000262424|exon_16_84902457_84902517 . . . 0/1:99:168,0,220 16 85689333 rs151194801 A T NON_SYNONYMOUS_CODING KIAA0182 MODERATE|MISSENSE|Atg/Ttg|M163L|1113|KIAA0182|protein_coding|CODING|ENST00000405402|exon_16_85689332_85689523 . 0/1:99:176,0,224 . . 16 85689333 rs151194801 A T NON_SYNONYMOUS_CODING KIAA0182 MODERATE|MISSENSE|Atg/Ttg|M163L|209|KIAA0182|protein_coding|CODING|ENST00000411612|exon_16_85689332_85689478 . 0/1:99:176,0,224 . . 16 85689333 rs151194801 A T NON_SYNONYMOUS_CODING KIAA0182 MODERATE|MISSENSE|Atg/Ttg|M194L|1144|KIAA0182|protein_coding|CODING|ENST00000393243|exon_16_85689332_85689523 . 0/1:99:176,0,224 . . 16 85689333 rs151194801 A T NON_SYNONYMOUS_CODING KIAA0182 MODERATE|MISSENSE|Atg/Ttg|M267L|1217|KIAA0182|protein_coding|CODING|ENST00000253458|exon_16_85689332_85689523 . 0/1:99:176,0,224 . . 16 85689982 . GGAGCGCGAGCGCGAGCGCGAGCG GGAGCGCGAGCGCGAGCG CODON_CHANGE_PLUS_CODON_DELETION KIAA0182 MODERATE||cgcgagcgt/cgt|RER243R|1113|KIAA0182|protein_coding|CODING|ENST00000405402|exon_16_85689949_85690271 . 0/1:99:163,0,255 . . 16 85689982 . GGAGCGCGAGCGCGAGCGCGAGCG GGAGCGCGAGCGCGAGCG CODON_CHANGE_PLUS_CODON_DELETION KIAA0182 MODERATE||cgcgagcgt/cgt|RER274R|1144|KIAA0182|protein_coding|CODING|ENST00000393243|exon_16_85689949_85690271 . 0/1:99:163,0,255 . . 16 85689982 . GGAGCGCGAGCGCGAGCGCGAGCG GGAGCGCGAGCGCGAGCG CODON_CHANGE_PLUS_CODON_DELETION KIAA0182 MODERATE||cgcgagcgt/cgt|RER347R|1217|KIAA0182|protein_coding|CODING|ENST00000253458|exon_16_85689949_85690271 . 0/1:99:163,0,255 . . 16 85952403 rs202046728 T G NON_SYNONYMOUS_CODING IRF8 MODERATE|MISSENSE|Ttc/Gtc|F124V|219|IRF8|protein_coding|CODING|ENST00000569607|exon_16_85952023_85952409 0/1:99:244,0,238 . . . 16 85952403 rs202046728 T G NON_SYNONYMOUS_CODING IRF8 MODERATE|MISSENSE|Ttc/Gtc|F124V|222|IRF8|protein_coding|CODING|ENST00000562492|exon_16_85952023_85952409 0/1:99:244,0,238 . . . 16 85952403 rs202046728 T G NON_SYNONYMOUS_CODING IRF8 MODERATE|MISSENSE|Ttc/Gtc|F328V|327|IRF8|protein_coding|CODING|ENST00000564803|exon_16_85952023_85952406 0/1:99:244,0,238 . . . 16 85952403 rs202046728 T G NON_SYNONYMOUS_CODING IRF8 MODERATE|MISSENSE|Ttc/Gtc|F328V|426|IRF8|protein_coding|CODING|ENST00000268638|exon_16_85952023_85952409 0/1:99:244,0,238 . . . 16 87435902 rs117835801 T G NON_SYNONYMOUS_CODING MAP1LC3B MODERATE|MISSENSE|tTt/tGt|F73C|75|MAP1LC3B|protein_coding|CODING|ENST00000565788|exon_16_87435781_87436215 0/1:99:232,0,255 . . . 16 87729653 . G A NON_SYNONYMOUS_CODING AC010536.2 MODERATE|MISSENSE|tCa/tTa|S32L|292|AC010536.2|protein_coding|CODING|ENST00000538868|exon_16_87727144_87729753 . . . 0/1:99:236,0,251 16 87735837 rs78717714 C T NON_SYNONYMOUS_CODING AC010536.1 MODERATE|MISSENSE|gGa/gAa|G95E|291|AC010536.1|protein_coding|CODING|ENST00000446344|exon_16_87735244_87739290 . . . 0/1:99:205,0,241 16 87782396 rs34779002 C A NON_SYNONYMOUS_CODING KLHDC4 MODERATE|MISSENSE|gGt/gTt|G130V|489|KLHDC4|protein_coding|CODING|ENST00000347925|exon_16_87782279_87782415 . . . 0/1:99:255,0,213 16 87782396 rs34779002 C A NON_SYNONYMOUS_CODING KLHDC4 MODERATE|MISSENSE|gGt/gTt|G130V|520|KLHDC4|protein_coding|CODING|ENST00000270583|exon_16_87782279_87782415 . . . 0/1:99:255,0,213 16 87782396 rs34779002 C A NON_SYNONYMOUS_CODING KLHDC4 MODERATE|MISSENSE|gGt/gTt|G40V|333|KLHDC4|protein_coding|CODING|ENST00000562261|exon_16_87782279_87782415 . . . 0/1:99:255,0,213 16 87782396 rs34779002 C A NON_SYNONYMOUS_CODING KLHDC4 MODERATE|MISSENSE|gGt/gTt|G73V|463|KLHDC4|protein_coding|CODING|ENST00000353170|exon_16_87782279_87782415 . . . 0/1:99:255,0,213 16 87795580 rs2303772 G C NON_SYNONYMOUS_CODING KLHDC4 MODERATE|MISSENSE|Ctt/Gtt|L103V|172|KLHDC4|protein_coding|CODING|ENST00000561825|exon_16_87795555_87795646 . . . 0/1:99:255,0,117 16 87795580 rs2303772 G C NON_SYNONYMOUS_CODING KLHDC4 MODERATE|MISSENSE|Ctt/Gtt|L56V|489|KLHDC4|protein_coding|CODING|ENST00000347925|exon_16_87795555_87795646 . . . 0/1:99:255,0,117 16 87795580 rs2303772 G C NON_SYNONYMOUS_CODING KLHDC4 MODERATE|MISSENSE|Ctt/Gtt|L56V|520|KLHDC4|protein_coding|CODING|ENST00000270583|exon_16_87795555_87795646 . . . 0/1:99:255,0,117 16 87874737 rs201579985 T C NON_SYNONYMOUS_CODING SLC7A5 MODERATE|MISSENSE|aAc/aGc|N230S|507|SLC7A5|protein_coding|CODING|ENST00000261622|exon_16_87874656_87874761 0/1:99:239,0,254 . . . 16 88105053 rs11117358 T A NON_SYNONYMOUS_CODING BANP MODERATE|MISSENSE|Tac/Aac|Y19N|250|BANP|protein_coding|CODING|ENST00000537202|exon_16_88104679_88105535 0/1:99:247,0,202 . 0/1:99:251,0,255 0/1:99:185,0,211 16 88495163 rs113937803 G A NON_SYNONYMOUS_CODING ZNF469 MODERATE|MISSENSE|Gcc/Acc|A429T|3925|ZNF469|protein_coding|CODING|ENST00000437464|exon_16_88493879_88497057 . . 0/1:99:191,0,171 . 16 88495163 rs113937803 G A NON_SYNONYMOUS_CODING ZNF469 MODERATE|MISSENSE|Gcc/Acc|A429T|3953|ZNF469|protein_coding|CODING|ENST00000565624|exon_16_88493879_88507157 . . 0/1:99:191,0,171 . 16 88500348 rs13334190 G A NON_SYNONYMOUS_CODING ZNF469 MODERATE|MISSENSE|aGg/aAg|R2129K|3925|ZNF469|protein_coding|CODING|ENST00000437464|exon_16_88497142_88507165 0/1:99:246,0,198 0/1:99:219,0,185 . 1/1:99:255,51,0 16 88500348 rs13334190 G A NON_SYNONYMOUS_CODING ZNF469 MODERATE|MISSENSE|aGg/aAg|R2157K|3953|ZNF469|protein_coding|CODING|ENST00000565624|exon_16_88493879_88507157 0/1:99:246,0,198 0/1:99:219,0,185 . 1/1:99:255,51,0 16 88502208 rs3812954 A T NON_SYNONYMOUS_CODING ZNF469 MODERATE|MISSENSE|gAc/gTc|D2749V|3925|ZNF469|protein_coding|CODING|ENST00000437464|exon_16_88497142_88507165 . 0/1:91:88,0,255 . 0/1:99:119,0,171 16 88502208 rs3812954 A T NON_SYNONYMOUS_CODING ZNF469 MODERATE|MISSENSE|gAc/gTc|D2777V|3953|ZNF469|protein_coding|CODING|ENST00000565624|exon_16_88493879_88507157 . 0/1:91:88,0,255 . 0/1:99:119,0,171 16 88599659 rs71395304 G T NON_SYNONYMOUS_CODING ZFPM1 MODERATE|MISSENSE|aaG/aaT|K431N|1006|ZFPM1|protein_coding|CODING|ENST00000319555|exon_16_88599556_88601572 0/1:4:100,0,1 . . . 16 88599687 rs200654742 G A NON_SYNONYMOUS_CODING ZFPM1 MODERATE|MISSENSE|Gcc/Acc|A441T|1006|ZFPM1|protein_coding|CODING|ENST00000319555|exon_16_88599556_88601572 . . . 0/1:59:56,0,125 16 88788235 rs139051768 G A NON_SYNONYMOUS_CODING PIEZO1 MODERATE|MISSENSE|aCg/aTg|T1732M|2521|PIEZO1|protein_coding|CODING|ENST00000301015|exon_16_88788216_88788474 0/1:86:83,0,237 . . . 16 88802609 . G A NON_SYNONYMOUS_CODING PIEZO1 MODERATE|MISSENSE|Cgc/Tgc|R502C|2521|PIEZO1|protein_coding|CODING|ENST00000301015|exon_16_88802556_88802816 0/1:99:195,0,255 . . . 16 88871972 rs145552478 G A NON_SYNONYMOUS_CODING CDT1 MODERATE|MISSENSE|Ggc/Agc|G205S|546|CDT1|protein_coding|CODING|ENST00000301019|exon_16_88871848_88872045 . . 0/1:99:255,0,129 . 16 89016936 . C T NON_SYNONYMOUS_CODING RP11-830F9.6.1 MODERATE|MISSENSE|tCa/tTa|S137L|413|RP11-830F9.6.1|protein_coding|CODING|ENST00000378347|exon_16_89016665_89017932 . . . 0/1:69:232,0,66 16 89017334 rs28617399 C T NON_SYNONYMOUS_CODING RP11-830F9.6.1 MODERATE|MISSENSE|Cgg/Tgg|R270W|413|RP11-830F9.6.1|protein_coding|CODING|ENST00000378347|exon_16_89016665_89017932 . . 0/1:64:61,0,125 . 16 89017386 rs200833298 T C NON_SYNONYMOUS_CODING RP11-830F9.6.1 MODERATE|MISSENSE|gTt/gCt|V287A|413|RP11-830F9.6.1|protein_coding|CODING|ENST00000378347|exon_16_89016665_89017932 . . 0/1:99:100,0,198 . 16 89300182 rs200249085 A G NON_SYNONYMOUS_CODING AC009113.1 MODERATE|MISSENSE|aAc/aGc|N299S|405|AC009113.1|protein_coding|CODING|ENST00000378337|exon_16_89299795_89302402 0/1:99:255,0,145 . . . 16 89613123 rs2292954 A G NON_SYNONYMOUS_CODING SPG7 MODERATE|MISSENSE|Acc/Gcc|T503A|795|SPG7|protein_coding|CODING|ENST00000268704|exon_16_89613066_89613168 0/1:99:220,0,119 . . 0/1:99:207,0,164 16 89620328 rs12960 G A NON_SYNONYMOUS_CODING SPG7 MODERATE|MISSENSE|cGg/cAg|R688Q|795|SPG7|protein_coding|CODING|ENST00000268704|exon_16_89620202_89620368 0/1:99:156,0,216 . . 0/1:92:153,0,89 16 89712374 rs117555004 A C NON_SYNONYMOUS_CODING CHMP1A MODERATE|MISSENSE|cTg/cGg|L224R|240|CHMP1A|protein_coding|CODING|ENST00000253475|exon_16_89710846_89712495 0/1:99:194,0,195 . . . 16 89712380 rs116954456 G A NON_SYNONYMOUS_CODING CHMP1A MODERATE|MISSENSE|gCg/gTg|A222V|240|CHMP1A|protein_coding|CODING|ENST00000253475|exon_16_89710846_89712495 0/1:99:160,0,203 . . . 16 89715801 rs114931496 G A NON_SYNONYMOUS_CODING CHMP1A MODERATE|MISSENSE|Cgc/Tgc|R64C|240|CHMP1A|protein_coding|CODING|ENST00000253475|exon_16_89715759_89715905 . . . 0/1:32:185,0,29 16 89751920 rs3751699 G C NON_SYNONYMOUS_CODING RP11-368I7.4.1 MODERATE|MISSENSE|tCg/tGg|S42W|130|RP11-368I7.4.1|protein_coding|CODING|ENST00000567544|exon_16_89751709_89752083 0/1:99:255,0,133 . . . 16 89777078 rs56288641 G A NON_SYNONYMOUS_CODING C16orf7 MODERATE|MISSENSE|Cgg/Tgg|R322W|561|C16orf7|protein_coding|CODING|ENST00000561976|exon_16_89776994_89777418 . 0/1:99:151,0,162 . . 16 89777078 rs56288641 G A NON_SYNONYMOUS_CODING C16orf7 MODERATE|MISSENSE|Cgg/Tgg|R392W|631|C16orf7|protein_coding|CODING|ENST00000389386|exon_16_89776994_89777418 . 0/1:99:151,0,162 . . 16 89782976 rs191271054 C T NON_SYNONYMOUS_CODING C16orf7 MODERATE|MISSENSE|Ggc/Agc|G109S|631|C16orf7|protein_coding|CODING|ENST00000389386|exon_16_89782870_89783032 0/1:70:67,0,255 . . . 16 89782976 rs191271054 C T NON_SYNONYMOUS_CODING C16orf7 MODERATE|MISSENSE|Ggc/Agc|G140S|438|C16orf7|protein_coding|CODING|ENST00000261625|exon_16_89782870_89783032 0/1:70:67,0,255 . . . 16 89782976 rs191271054 C T NON_SYNONYMOUS_CODING C16orf7 MODERATE|MISSENSE|Ggc/Agc|G39S|561|C16orf7|protein_coding|CODING|ENST00000561976|exon_16_89782870_89783032 0/1:70:67,0,255 . . . 16 89883007 rs1800282 A T NON_SYNONYMOUS_CODING FANCA MODERATE|MISSENSE|gTc/gAc|V6D|1424|FANCA|protein_coding|CODING|ENST00000568369|exon_16_89882945_89883054 . . 0/1:99:103,0,116 . 16 89883007 rs1800282 A T NON_SYNONYMOUS_CODING FANCA MODERATE|MISSENSE|gTc/gAc|V6D|1455|FANCA|protein_coding|CODING|ENST00000389301|exon_16_89882945_89883054 . . 0/1:99:103,0,116 . 16 89883007 rs1800282 A T NON_SYNONYMOUS_CODING FANCA MODERATE|MISSENSE|gTc/gAc|V6D|265|FANCA|protein_coding|CODING|ENST00000543736|exon_16_89882945_89883065 . . 0/1:99:103,0,116 . 16 89883007 rs1800282 A T NON_SYNONYMOUS_CODING FANCA MODERATE|MISSENSE|gTc/gAc|V6D|297|FANCA|protein_coding|CODING|ENST00000389302|exon_16_89882945_89883065 . . 0/1:99:103,0,116 . 16 89883007 rs1800282 A T NON_SYNONYMOUS_CODING FANCA MODERATE|MISSENSE|gTc/gAc|V6D|302|FANCA|protein_coding|CODING|ENST00000534992|exon_16_89882945_89883063 . . 0/1:99:103,0,116 . 16 89883007 rs1800282 A T NON_SYNONYMOUS_CODING FANCA MODERATE|MISSENSE|gTc/gAc|V6D|316|FANCA|protein_coding|CODING|ENST00000563673|exon_16_89882945_89883043 . . 0/1:99:103,0,116 . 16 89986144 rs1805008 C T NON_SYNONYMOUS_CODING MC1R MODERATE|MISSENSE|Cgg/Tgg|R160W|317|MC1R|protein_coding|CODING|ENST00000555147|exon_16_89984287_89987385 . . 0/1:94:91,0,144 . 16 89986144 rs1805008 C T NON_SYNONYMOUS_CODING RP11-566K11.2.1 MODERATE|MISSENSE|Cgg/Tgg|R160W|382|RP11-566K11.2.1|protein_coding|CODING|ENST00000555427|exon_16_89985259_89986616 . . 0/1:94:91,0,144 . 16 89986144 rs1805008 C T NON_SYNONYMOUS_CODING RP11-566K11.2.1 MODERATE|MISSENSE|Cgg/Tgg|R160W|797|RP11-566K11.2.1|protein_coding|CODING|ENST00000556922|exon_16_89985573_89986616 . . 0/1:94:91,0,144 . 16 89986546 rs1805009 G C NON_SYNONYMOUS_CODING MC1R MODERATE|MISSENSE|Gac/Cac|D294H|317|MC1R|protein_coding|CODING|ENST00000555147|exon_16_89984287_89987385 . 0/1:99:167,0,211 . . 16 89986546 rs1805009 G C NON_SYNONYMOUS_CODING RP11-566K11.2.1 MODERATE|MISSENSE|Gac/Cac|D294H|382|RP11-566K11.2.1|protein_coding|CODING|ENST00000555427|exon_16_89985259_89986616 . 0/1:99:167,0,211 . . 16 89986546 rs1805009 G C NON_SYNONYMOUS_CODING RP11-566K11.2.1 MODERATE|MISSENSE|Gac/Cac|D294H|797|RP11-566K11.2.1|protein_coding|CODING|ENST00000556922|exon_16_89985573_89986616 . 0/1:99:167,0,211 . . 16 90000044 rs77681059 C T NON_SYNONYMOUS_CODING RP11-566K11.2.1 MODERATE|MISSENSE|tCg/tTg|S112L|164|RP11-566K11.2.1|protein_coding|CODING|ENST00000553967|exon_16_89999876_90000409 . . 0/1:99:255,0,242 . 16 90102833 rs868044 G A NON_SYNONYMOUS_CODING GAS8 MODERATE|MISSENSE|Gaa/Aaa|E174K|453|GAS8|protein_coding|CODING|ENST00000536122|exon_16_90102789_90102994 0/1:99:255,0,255 . . . 16 90102833 rs868044 G A NON_SYNONYMOUS_CODING GAS8 MODERATE|MISSENSE|Gaa/Aaa|E199K|478|GAS8|protein_coding|CODING|ENST00000268699|exon_16_90102789_90102994 0/1:99:255,0,255 . . . 16 90126993 rs150196149 A G NON_SYNONYMOUS_CODING PRDM7 MODERATE|MISSENSE|cTg/cCg|L330P|492|PRDM7|protein_coding|CODING|ENST00000449207|exon_16_90126749_90127031 . . 0/1:99:240,0,244 . 17 263292 rs187527105 G A NON_SYNONYMOUS_CODING C17orf97 MODERATE|MISSENSE|Gac/Aac|D220N|423|C17orf97|protein_coding|CODING|ENST00000360127|exon_17_262939_264367 . . 0/1:97:94,0,105 . 17 295630 rs193070117 A T NON_SYNONYMOUS_CODING FAM101B MODERATE|MISSENSE|gTa/gAa|V34E|144|FAM101B|protein_coding|CODING|ENST00000329099|exon_17_295627_295730 . . 0/1:99:224,0,246 . 17 649690 . G C NON_SYNONYMOUS_CODING GEMIN4 MODERATE|MISSENSE|aaC/aaG|N531K|1058|GEMIN4|protein_coding|CODING|ENST00000319004|exon_17_647661_651272 . . 0/1:99:255,0,253 . 17 663468 rs75027378 G T NON_SYNONYMOUS_CODING GLOD4 MODERATE|MISSENSE|gCa/gAa|A272E|289|GLOD4|protein_coding|CODING|ENST00000536578|exon_17_663262_663478 . . . 0/1:99:163,0,255 17 663468 rs75027378 G T NON_SYNONYMOUS_CODING GLOD4 MODERATE|MISSENSE|gCa/gAa|A281E|298|GLOD4|protein_coding|CODING|ENST00000301329|exon_17_662550_663478 . . . 0/1:99:163,0,255 17 663468 rs75027378 G T NON_SYNONYMOUS_CODING GLOD4 MODERATE|MISSENSE|gCa/gAa|A296E|313|GLOD4|protein_coding|CODING|ENST00000301328|exon_17_662692_663478 . . . 0/1:99:163,0,255 17 663468 rs75027378 G T NON_SYNONYMOUS_CODING GLOD4 MODERATE|MISSENSE|gCa/gAa|A484E|501|GLOD4|protein_coding|CODING|ENST00000397393|exon_17_662692_663478 . . . 0/1:99:163,0,255 17 685606 rs16955542 G A NON_SYNONYMOUS_CODING GLOD4 MODERATE|MISSENSE|cCc/cTc|P168L|501|GLOD4|protein_coding|CODING|ENST00000397393|exon_17_685482_685691 . . . 0/1:99:170,0,203 17 695061 rs75658007 G A NON_SYNONYMOUS_CODING RNMTL1 MODERATE|MISSENSE|Gtt/Att|V339I|420|RNMTL1|protein_coding|CODING|ENST00000304478|exon_17_694774_695749 . . . 0/1:99:209,0,255 17 695062 rs80220493 T A NON_SYNONYMOUS_CODING RNMTL1 MODERATE|MISSENSE|gTt/gAt|V339D|420|RNMTL1|protein_coding|CODING|ENST00000304478|exon_17_694774_695749 . . . 0/1:99:218,0,255 17 1183612 rs72816260 T C NON_SYNONYMOUS_CODING TUSC5 MODERATE|MISSENSE|aTc/aCc|I106T|177|TUSC5|protein_coding|CODING|ENST00000333813|exon_17_1182957_1183682 . . . 0/1:99:195,0,192 17 1674434 rs1804145 C G NON_SYNONYMOUS_CODING SERPINF1 MODERATE|MISSENSE|cCc/cGc|P132R|418|SERPINF1|protein_coding|CODING|ENST00000254722|exon_17_1674323_1674478 1/1:99:255,99,0 . 0/1:99:255,0,153 . 17 1704162 rs149682118 T C NON_SYNONYMOUS_CODING SMYD4 MODERATE|MISSENSE|Aca/Gca|T176A|804|SMYD4|protein_coding|CODING|ENST00000305513|exon_17_1703151_1704318 0/1:99:232,0,198 . . . 17 1943818 rs61757361 G A NON_SYNONYMOUS_CODING DPH1 MODERATE|MISSENSE|cGa/cAa|R314Q|443|DPH1|protein_coding|CODING|ENST00000263083|exon_17_1943799_1943899 . . 0/1:99:240,0,197 . 17 2282779 rs61741902 G A NON_SYNONYMOUS_CODING SGSM2 MODERATE|MISSENSE|Gtc/Atc|V1041I|1051|SGSM2|protein_coding|CODING|ENST00000268989|exon_17_2282726_2284344 . . 0/1:99:228,0,150 . 17 2282779 rs61741902 G A NON_SYNONYMOUS_CODING SGSM2 MODERATE|MISSENSE|Gtc/Atc|V996I|1006|SGSM2|protein_coding|CODING|ENST00000426855|exon_17_2282726_2284344 . . 0/1:99:228,0,150 . 17 2298497 rs7207965 C T NON_SYNONYMOUS_CODING MNT MODERATE|MISSENSE|Gcg/Acg|A109T|582|MNT|protein_coding|CODING|ENST00000174618|exon_17_2298169_2298748 0/1:77:143,0,74 . . . 17 2298497 rs7207965 C T NON_SYNONYMOUS_CODING MNT MODERATE|MISSENSE|Gcg/Acg|A109T|582|MNT|protein_coding|CODING|ENST00000404961|exon_17_2298169_2298748 0/1:77:143,0,74 . . . 17 2323517 rs17834783 C T NON_SYNONYMOUS_CODING METTL16 MODERATE|MISSENSE|aGt/aAt|S159N|201|METTL16|protein_coding|CODING|ENST00000537138|exon_17_2323476_2323890 . 0/1:99:187,0,255 . . 17 2323517 rs17834783 C T NON_SYNONYMOUS_CODING METTL16 MODERATE|MISSENSE|aGt/aAt|S261N|344|METTL16|protein_coding|CODING|ENST00000538844|exon_17_2322882_2323890 . 0/1:99:187,0,255 . . 17 2323517 rs17834783 C T NON_SYNONYMOUS_CODING METTL16 MODERATE|MISSENSE|aGt/aAt|S479N|562|METTL16|protein_coding|CODING|ENST00000263092|exon_17_2319352_2323890 . 0/1:99:187,0,255 . . 17 3101590 rs2469791 C T NON_SYNONYMOUS_CODING OR1A2 MODERATE|MISSENSE|Cgc/Tgc|R260C|309|OR1A2|protein_coding|CODING|ENST00000381951|exon_17_3100813_3101742 . 0/1:99:255,0,255 . 0/1:99:209,0,193 17 3119611 rs17762735 G A NON_SYNONYMOUS_CODING OR1A1 MODERATE|MISSENSE|Gtg/Atg|V233M|309|OR1A1|protein_coding|CODING|ENST00000304094|exon_17_3118915_3119844 . . 0/1:99:255,0,222 . 17 3181662 rs9901356 G C NON_SYNONYMOUS_CODING OR3A2 MODERATE|MISSENSE|Ctc/Gtc|L190V|321|OR3A2|protein_coding|CODING|ENST00000408891|exon_17_3181193_3182268 . . 0/1:99:222,0,187 . 17 3591933 rs151100959 C T NON_SYNONYMOUS_CODING P2RX5 MODERATE|MISSENSE|Ggg/Agg|G232R|362|P2RX5|protein_coding|CODING|ENST00000552050|exon_17_3591920_3592053 . 0/1:99:255,0,176 . . 17 3591933 rs151100959 C T NON_SYNONYMOUS_CODING P2RX5 MODERATE|MISSENSE|Ggg/Agg|G267R|397|P2RX5|protein_coding|CODING|ENST00000551178|exon_17_3591920_3592053 . 0/1:99:255,0,176 . . 17 3591933 rs151100959 C T NON_SYNONYMOUS_CODING P2RX5 MODERATE|MISSENSE|Ggg/Agg|G268R|398|P2RX5|protein_coding|CODING|ENST00000345901|exon_17_3591920_3592053 . 0/1:99:255,0,176 . . 17 3591933 rs151100959 C T NON_SYNONYMOUS_CODING P2RX5 MODERATE|MISSENSE|Ggg/Agg|G291R|421|P2RX5|protein_coding|CODING|ENST00000547178|exon_17_3591920_3592053 . 0/1:99:255,0,176 . . 17 3591933 rs151100959 C T NON_SYNONYMOUS_CODING P2RX5 MODERATE|MISSENSE|Ggg/Agg|G292R|422|P2RX5|protein_coding|CODING|ENST00000225328|exon_17_3591920_3592053 . 0/1:99:255,0,176 . . 17 3591933 rs151100959 C T NON_SYNONYMOUS_CODING P2RX5 MODERATE|MISSENSE|Ggg/Agg|G292R|432|P2RX5|protein_coding|CODING|ENST00000435558|exon_17_3591920_3592053 . 0/1:99:255,0,176 . . 17 3627347 rs34758926 C T NON_SYNONYMOUS_CODING GSG2 MODERATE|MISSENSE|Cgg/Tgg|R40W|798|GSG2|protein_coding|CODING|ENST00000325418|exon_17_3627211_3630067 . . 0/1:99:164,0,210 . 17 3926110 rs711177 C G NON_SYNONYMOUS_CODING ZZEF1 MODERATE|MISSENSE|Gag/Cag|E2369Q|2961|ZZEF1|protein_coding|CODING|ENST00000381638|exon_17_3926003_3926122 0/1:99:254,0,255 0/1:99:255,0,244 . . 17 3981290 rs78806449 A G NON_SYNONYMOUS_CODING ZZEF1 MODERATE|MISSENSE|gTg/gCg|V959A|2961|ZZEF1|protein_coding|CODING|ENST00000381638|exon_17_3981177_3981336 1/1:99:255,90,0 0/1:99:255,0,255 . . 17 4448967 rs139356015 G A NON_SYNONYMOUS_CODING MYBBP1A MODERATE|MISSENSE|Cgg/Tgg|R671W|1328|MYBBP1A|protein_coding|CODING|ENST00000254718|exon_17_4448905_4449056 . . 0/1:99:247,0,244 . 17 4448967 rs139356015 G A NON_SYNONYMOUS_CODING MYBBP1A MODERATE|MISSENSE|Cgg/Tgg|R671W|1332|MYBBP1A|protein_coding|CODING|ENST00000381556|exon_17_4448905_4449056 . . 0/1:99:247,0,244 . 17 4448967 rs139356015 G A NON_SYNONYMOUS_CODING MYBBP1A MODERATE|MISSENSE|cCg/cTg|P516L|603|MYBBP1A|protein_coding|CODING|ENST00000426435|exon_17_4448964_4449000 . . 0/1:99:247,0,244 . 17 4455266 rs117615621 G T NON_SYNONYMOUS_CODING MYBBP1A MODERATE|MISSENSE|gCg/gAg|A311E|1328|MYBBP1A|protein_coding|CODING|ENST00000254718|exon_17_4455175_4455292 0/1:99:178,0,254 . . . 17 4455266 rs117615621 G T NON_SYNONYMOUS_CODING MYBBP1A MODERATE|MISSENSE|gCg/gAg|A311E|1332|MYBBP1A|protein_coding|CODING|ENST00000381556|exon_17_4455175_4455292 0/1:99:178,0,254 . . . 17 4455266 rs117615621 G T NON_SYNONYMOUS_CODING MYBBP1A MODERATE|MISSENSE|gCg/gAg|A311E|603|MYBBP1A|protein_coding|CODING|ENST00000426435|exon_17_4455175_4455292 0/1:99:178,0,254 . . . 17 4458598 rs3809849 G C NON_SYNONYMOUS_CODING MYBBP1A MODERATE|MISSENSE|Cag/Gag|Q8E|1328|MYBBP1A|protein_coding|CODING|ENST00000254718|exon_17_4458422_4458679 0/1:99:230,0,189 . 0/1:99:172,0,255 . 17 4458598 rs3809849 G C NON_SYNONYMOUS_CODING MYBBP1A MODERATE|MISSENSE|Cag/Gag|Q8E|1332|MYBBP1A|protein_coding|CODING|ENST00000381556|exon_17_4458422_4458681 0/1:99:230,0,189 . 0/1:99:172,0,255 . 17 4458598 rs3809849 G C NON_SYNONYMOUS_CODING MYBBP1A MODERATE|MISSENSE|Cag/Gag|Q8E|603|MYBBP1A|protein_coding|CODING|ENST00000426435|exon_17_4458422_4458681 0/1:99:230,0,189 . 0/1:99:172,0,255 . 17 4463699 rs7216284 G A NON_SYNONYMOUS_CODING GGT6 MODERATE|MISSENSE|Cgg/Tgg|R40W|461|GGT6|protein_coding|CODING|ENST00000301395|exon_17_4463677_4463876 0/1:99:255,0,103 . 0/1:99:202,0,255 . 17 4463699 rs7216284 G A NON_SYNONYMOUS_CODING GGT6 MODERATE|MISSENSE|Cgg/Tgg|R40W|493|GGT6|protein_coding|CODING|ENST00000381550|exon_17_4463677_4463876 0/1:99:255,0,103 . 0/1:99:202,0,255 . 17 4721376 rs17854914 A G NON_SYNONYMOUS_CODING PLD2 MODERATE|MISSENSE|gAg/gGg|E632G|933|PLD2|protein_coding|CODING|ENST00000263088|exon_17_4721297_4721401 0/1:99:165,0,237 . . 0/1:99:177,0,255 17 4841153 rs147584261 G T NON_SYNONYMOUS_CODING SLC25A11 MODERATE|MISSENSE|ttC/ttA|F225L|263|SLC25A11|protein_coding|CODING|ENST00000544061|exon_17_4840438_4841191 . . 0/1:99:145,0,199 . 17 4841153 rs147584261 G T NON_SYNONYMOUS_CODING SLC25A11 MODERATE|MISSENSE|ttC/ttA|F276L|314|SLC25A11|protein_coding|CODING|ENST00000225665|exon_17_4840425_4841191 . . 0/1:99:145,0,199 . 17 5326145 rs12761 C G NON_SYNONYMOUS_CODING RPAIN MODERATE|MISSENSE|aaC/aaG|N103K|106|RPAIN|protein_coding|CODING|ENST00000536255|exon_17_5326089_5326149 1/1:99:255,84,0 . 0/1:99:177,0,255 . 17 5326145 rs12761 C G NON_SYNONYMOUS_CODING RPAIN MODERATE|MISSENSE|aaC/aaG|N103K|106|RPAIN|protein_coding|CODING|ENST00000540734|exon_17_5326089_5326149 1/1:99:255,84,0 . 0/1:99:177,0,255 . 17 5326145 rs12761 C G NON_SYNONYMOUS_CODING RPAIN MODERATE|MISSENSE|aaC/aaG|N103K|144|RPAIN|protein_coding|CODING|ENST00000327154|exon_17_5326089_5326149 1/1:99:255,84,0 . 0/1:99:177,0,255 . 17 5326145 rs12761 C G NON_SYNONYMOUS_CODING RPAIN MODERATE|MISSENSE|aaC/aaG|N103K|148|RPAIN|protein_coding|CODING|ENST00000539417|exon_17_5326089_5326149 1/1:99:255,84,0 . 0/1:99:177,0,255 . 17 5326145 rs12761 C G NON_SYNONYMOUS_CODING RPAIN MODERATE|MISSENSE|aaC/aaG|N103K|172|RPAIN|protein_coding|CODING|ENST00000381208|exon_17_5326089_5326149 1/1:99:255,84,0 . 0/1:99:177,0,255 . 17 5326145 rs12761 C G NON_SYNONYMOUS_CODING RPAIN MODERATE|MISSENSE|aaC/aaG|N103K|219|RPAIN|protein_coding|CODING|ENST00000381209|exon_17_5326089_5326149 1/1:99:255,84,0 . 0/1:99:177,0,255 . 17 5326145 rs12761 C G NON_SYNONYMOUS_CODING RPAIN MODERATE|MISSENSE|aaC/aaG|N103K|231|RPAIN|protein_coding|CODING|ENST00000405578|exon_17_5326089_5326149 1/1:99:255,84,0 . 0/1:99:177,0,255 . 17 5328633 rs8080400 G A NON_SYNONYMOUS_CODING AC004148.1 MODERATE|MISSENSE|cGt/cAt|R7H|186|AC004148.1|protein_coding|CODING|ENST00000399576|exon_17_5328469_5328661 1/1:99:255,105,0 . 0/1:99:255,0,202 . 17 5328748 rs8067894 T C NON_SYNONYMOUS_CODING AC004148.1 MODERATE|MISSENSE|cTg/cCg|L45P|186|AC004148.1|protein_coding|CODING|ENST00000399576|exon_17_5328663_5328816 1/1:99:255,90,0 . 0/1:99:240,0,255 . 17 5334850 rs72634034 G A NON_SYNONYMOUS_CODING AC004148.1 MODERATE|MISSENSE|Gta/Ata|V146I|186|AC004148.1|protein_coding|CODING|ENST00000399576|exon_17_5334617_5334873 1/1:99:255,51,0 . 0/1:99:108,0,219 . 17 5338281 rs56014026 G A NON_SYNONYMOUS_CODING C1QBP MODERATE|MISSENSE|aCg/aTg|T130M|282|C1QBP|protein_coding|CODING|ENST00000225698|exon_17_5338193_5338286 . . 0/1:99:223,0,177 . 17 5354204 rs11653658 G C NON_SYNONYMOUS_CODING DHX33 MODERATE|MISSENSE|Cat/Gat|H259D|483|DHX33|protein_coding|CODING|ENST00000433302|exon_17_5354127_5354254 . . 0/1:99:255,0,180 . 17 5354204 rs11653658 G C NON_SYNONYMOUS_CODING DHX33 MODERATE|MISSENSE|Cat/Gat|H483D|707|DHX33|protein_coding|CODING|ENST00000225296|exon_17_5354127_5354254 . . 0/1:99:255,0,180 . 17 6012979 rs41314099 C T NON_SYNONYMOUS_CODING WSCD1 MODERATE|MISSENSE|aCc/aTc|T301I|575|WSCD1|protein_coding|CODING|ENST00000317744|exon_17_6012927_6013086 . 0/1:99:255,0,255 . . 17 6012979 rs41314099 C T NON_SYNONYMOUS_CODING WSCD1 MODERATE|MISSENSE|aCc/aTc|T301I|575|WSCD1|protein_coding|CODING|ENST00000539421|exon_17_6012927_6013086 . 0/1:99:255,0,255 . . 17 6441376 rs28493751 G A NON_SYNONYMOUS_CODING PITPNM3 MODERATE|MISSENSE|Ccc/Tcc|P17S|938|PITPNM3|protein_coding|CODING|ENST00000421306|exon_17_6441307_6441402 . . 0/1:95:92,0,244 . 17 6441376 rs28493751 G A NON_SYNONYMOUS_CODING PITPNM3 MODERATE|MISSENSE|Ccc/Tcc|P17S|974|PITPNM3|protein_coding|CODING|ENST00000262483|exon_17_6441307_6441402 . . 0/1:95:92,0,244 . 17 6511741 rs61735441 T C NON_SYNONYMOUS_CODING KIAA0753 MODERATE|MISSENSE|Aaa/Gaa|K287E|668|KIAA0753|protein_coding|CODING|ENST00000542606|exon_17_6511668_6511784 . 0/1:99:255,0,255 . 0/1:99:255,0,255 17 6511741 rs61735441 T C NON_SYNONYMOUS_CODING KIAA0753 MODERATE|MISSENSE|Aaa/Gaa|K42E|423|KIAA0753|protein_coding|CODING|ENST00000542826|exon_17_6511668_6511784 . 0/1:99:255,0,255 . 0/1:99:255,0,255 17 6511741 rs61735441 T C NON_SYNONYMOUS_CODING KIAA0753 MODERATE|MISSENSE|Aaa/Gaa|K586E|967|KIAA0753|protein_coding|CODING|ENST00000361413|exon_17_6511668_6511784 . 0/1:99:255,0,255 . 0/1:99:255,0,255 17 6663894 rs2271232 G A NON_SYNONYMOUS_CODING XAF1 MODERATE|MISSENSE|cGc/cAc|R113H|282|XAF1|protein_coding|CODING|ENST00000346752|exon_17_6663725_6663920 . 0/1:99:253,0,228 . . 17 6663894 rs2271232 G A NON_SYNONYMOUS_CODING XAF1 MODERATE|MISSENSE|cGc/cAc|R132H|164|XAF1|protein_coding|CODING|ENST00000438512|exon_17_6663725_6663920 . 0/1:99:253,0,228 . . 17 6663894 rs2271232 G A NON_SYNONYMOUS_CODING XAF1 MODERATE|MISSENSE|cGc/cAc|R132H|301|XAF1|protein_coding|CODING|ENST00000361842|exon_17_6663725_6663920 . 0/1:99:253,0,228 . . 17 6663894 rs2271232 G A NON_SYNONYMOUS_CODING XAF1 MODERATE|MISSENSE|cGc/cAc|R132H|301|XAF1|protein_coding|CODING|ENST00000441631|exon_17_6663725_6663920 . 0/1:99:253,0,228 . . 17 6916813 . C T NON_SYNONYMOUS_CODING RNASEK MODERATE|MISSENSE|tCa/tTa|S17L|96|RNASEK|protein_coding|CODING|ENST00000552321|exon_17_6916550_6916835 0/1:99:195,0,189 . . . 17 6981397 rs90951 A G NON_SYNONYMOUS_CODING CLEC10A MODERATE|MISSENSE|Tgc/Cgc|C35R|292|CLEC10A|protein_coding|CODING|ENST00000416562|exon_17_6981316_6981432 0/1:99:113,0,189 . 0/1:99:159,0,112 . 17 6981397 rs90951 A G NON_SYNONYMOUS_CODING CLEC10A MODERATE|MISSENSE|Tgc/Cgc|C35R|316|CLEC10A|protein_coding|CODING|ENST00000254868|exon_17_6981316_6981432 0/1:99:113,0,189 . 0/1:99:159,0,112 . 17 6981403 rs78714016 G A NON_SYNONYMOUS_CODING CLEC10A MODERATE|MISSENSE|Cgt/Tgt|R33C|292|CLEC10A|protein_coding|CODING|ENST00000416562|exon_17_6981316_6981432 . . . 0/1:99:128,0,138 17 6981403 rs78714016 G A NON_SYNONYMOUS_CODING CLEC10A MODERATE|MISSENSE|Cgt/Tgt|R33C|316|CLEC10A|protein_coding|CODING|ENST00000254868|exon_17_6981316_6981432 . . . 0/1:99:128,0,138 17 7154582 rs3744399 T C NON_SYNONYMOUS_CODING CTDNEP1 MODERATE|MISSENSE|Acg/Gcg|T12A|244|CTDNEP1|protein_coding|CODING|ENST00000318988|exon_17_7154514_7154920 0/1:99:104,0,103 . . 0/1:99:191,0,162 17 7251713 rs35019942 C T NON_SYNONYMOUS_CODING ACAP1 MODERATE|MISSENSE|Cgg/Tgg|R533W|740|ACAP1|protein_coding|CODING|ENST00000158762|exon_17_7251625_7251794 . . 0/1:99:196,0,255 . 17 7324788 rs33989543 G A NON_SYNONYMOUS_CODING SPEM1 MODERATE|MISSENSE|cGg/cAg|R265Q|309|SPEM1|protein_coding|CODING|ENST00000323675|exon_17_7324200_7324950 . . 0/1:99:209,0,255 0/1:99:255,0,196 17 7340607 . C G NON_SYNONYMOUS_CODING TMEM102 MODERATE|MISSENSE|Ctg/Gtg|L437V|508|TMEM102|protein_coding|CODING|ENST00000323206|exon_17_7339513_7340998 . 0/1:99:193,0,255 . . 17 7340607 . C G NON_SYNONYMOUS_CODING TMEM102 MODERATE|MISSENSE|Ctg/Gtg|L437V|508|TMEM102|protein_coding|CODING|ENST00000396568|exon_17_7339513_7340842 . 0/1:99:193,0,255 . . 17 7366651 rs871990 C G NON_SYNONYMOUS_CODING ZBTB4 MODERATE|MISSENSE|atG/atC|M550I|1013|ZBTB4|protein_coding|CODING|ENST00000311403|exon_17_7362685_7367209 . . 0/1:99:182,0,181 0/1:92:189,0,89 17 7366651 rs871990 C G NON_SYNONYMOUS_CODING ZBTB4 MODERATE|MISSENSE|atG/atC|M550I|1013|ZBTB4|protein_coding|CODING|ENST00000380599|exon_17_7362688_7367209 . . 0/1:99:182,0,181 0/1:92:189,0,89 17 7385454 rs3760422 G A NON_SYNONYMOUS_CODING SLC35G6 MODERATE|MISSENSE|Gct/Act|A51T|338|SLC35G6|protein_coding|CODING|ENST00000412468|exon_17_7385307_7386383 . . 0/1:99:200,0,240 0/1:99:180,0,203 17 7637982 rs3744254 T A NON_SYNONYMOUS_CODING DNAH2 MODERATE|MISSENSE|Tcg/Acg|S312T|4195|DNAH2|protein_coding|CODING|ENST00000360606|exon_17_7637788_7638026 0/1:99:255,0,193 . . . 17 7637982 rs3744254 T A NON_SYNONYMOUS_CODING DNAH2 MODERATE|MISSENSE|Tcg/Acg|S312T|4427|DNAH2|protein_coding|CODING|ENST00000389173|exon_17_7637788_7638026 0/1:99:255,0,193 . . . 17 7637982 rs3744254 T A NON_SYNONYMOUS_CODING DNAH2 MODERATE|MISSENSE|Tcg/Acg|S312T|872|DNAH2|protein_coding|CODING|ENST00000082259|exon_17_7637788_7638026 0/1:99:255,0,193 . . . 17 7669761 rs35788701 G A NON_SYNONYMOUS_CODING DNAH2 MODERATE|MISSENSE|Gag/Aag|E1213K|4195|DNAH2|protein_coding|CODING|ENST00000360606|exon_17_7669636_7669799 . . . 0/1:99:225,0,212 17 7669761 rs35788701 G A NON_SYNONYMOUS_CODING DNAH2 MODERATE|MISSENSE|Gag/Aag|E1213K|4427|DNAH2|protein_coding|CODING|ENST00000389173|exon_17_7669636_7669799 . . . 0/1:99:225,0,212 17 7673605 rs11868946 A G NON_SYNONYMOUS_CODING DNAH2 MODERATE|MISSENSE|gAg/gGg|E1326G|4195|DNAH2|protein_coding|CODING|ENST00000360606|exon_17_7673570_7673726 0/1:99:255,0,177 . . . 17 7673605 rs11868946 A G NON_SYNONYMOUS_CODING DNAH2 MODERATE|MISSENSE|gAg/gGg|E1326G|4427|DNAH2|protein_coding|CODING|ENST00000389173|exon_17_7673570_7673726 0/1:99:255,0,177 . . . 17 7750010 rs79548905 G C NON_SYNONYMOUS_CODING KDM6B MODERATE|MISSENSE|gaG/gaC|E221D|1643|KDM6B|protein_coding|CODING|ENST00000448097|exon_17_7749897_7750058 . 0/1:99:101,0,99 . . 17 7750010 rs79548905 G C NON_SYNONYMOUS_CODING KDM6B MODERATE|MISSENSE|gaG/gaC|E221D|1682|KDM6B|protein_coding|CODING|ENST00000254846|exon_17_7749897_7750058 . 0/1:99:101,0,99 . . 17 7750177 . TACCACCACCACCACCACCACCACCACCACCACCACCACC TACCACCACCACCACCACCACCACCACCACCACCACCACCACCACC CODON_CHANGE_PLUS_CODON_INSERTION KDM6B MODERATE||ccc/ccACCACCc|P264PPP|1643|KDM6B|protein_coding|CODING|ENST00000448097|exon_17_7750137_7750334 . . 1/1:16:75,9,0 . 17 7750177 . TACCACCACCACCACCACCACCACCACCACCACCACCACC TACCACCACCACCACCACCACCACCACCACCACCACCACCACCACC CODON_CHANGE_PLUS_CODON_INSERTION KDM6B MODERATE||ccc/ccACCACCc|P264PPP|1682|KDM6B|protein_coding|CODING|ENST00000254846|exon_17_7750137_7750334 . . 1/1:16:75,9,0 . 17 7950394 rs9895916 G A NON_SYNONYMOUS_CODING ALOX15B MODERATE|MISSENSE|cGc/cAc|R457H|647|ALOX15B|protein_coding|CODING|ENST00000380173|exon_17_7950225_7950394 . 0/1:99:160,0,255 . . 17 7950394 rs9895916 G A NON_SYNONYMOUS_CODING ALOX15B MODERATE|MISSENSE|cGc/cAc|R486H|676|ALOX15B|protein_coding|CODING|ENST00000380183|exon_17_7950225_7950394 . 0/1:99:160,0,255 . . 17 8021407 rs112227180 G C NON_SYNONYMOUS_CODING ALOXE3 MODERATE|MISSENSE|Cgc/Ggc|R100G|843|ALOXE3|protein_coding|CODING|ENST00000318227|exon_17_8021162_8021621 . . 0/1:99:189,0,255 . 17 8021407 rs112227180 G C NON_SYNONYMOUS_CODING ALOXE3 MODERATE|MISSENSE|Cgc/Ggc|R124G|867|ALOXE3|protein_coding|CODING|ENST00000380149|exon_17_8021162_8021807 . . 0/1:99:189,0,255 . 17 8046147 rs12937495 C T NON_SYNONYMOUS_CODING PER1 MODERATE|MISSENSE|Gtc/Atc|V1027I|1290|PER1|protein_coding|CODING|ENST00000317276|exon_17_8045967_8046153 . . 0/1:99:230,0,185 . 17 8093324 rs150061068 C G NON_SYNONYMOUS_CODING C17orf59 MODERATE|MISSENSE|gaG/gaC|E45D|357|C17orf59|protein_coding|CODING|ENST00000389017|exon_17_8091652_8093564 0/1:99:145,0,223 . . . 17 8925725 . T C NON_SYNONYMOUS_CODING NTN1 MODERATE|MISSENSE|cTg/cCg|L12P|604|NTN1|protein_coding|CODING|ENST00000173229|exon_17_8925628_8926708 . . 0/1:99:106,0,195 . 17 8925725 . T C NON_SYNONYMOUS_CODING NTN1 MODERATE|MISSENSE|cTg/cCg|L12P|604|NTN1|protein_coding|CODING|ENST00000538852|exon_17_8925625_8926708 . . 0/1:99:106,0,195 . 17 8925725 . T C NON_SYNONYMOUS_CODING NTN1 MODERATE|MISSENSE|cTg/cCg|L12P|604|NTN1|protein_coding|CODING|ENST00000546090|exon_17_8925620_8926708 . . 0/1:99:106,0,195 . 17 9408381 rs138337481 C T NON_SYNONYMOUS_CODING STX8 MODERATE|MISSENSE|cGg/cAg|R141Q|236|STX8|protein_coding|CODING|ENST00000306357|exon_17_9408355_9408479 0/1:99:212,0,172 . 0/1:99:248,0,221 . 17 9569969 . C T NON_SYNONYMOUS_CODING USP43 MODERATE|MISSENSE|cCg/cTg|P214L|1123|USP43|protein_coding|CODING|ENST00000285199|exon_17_9569965_9570068 . . 0/1:99:218,0,165 . 17 9631298 rs200272651 G A NON_SYNONYMOUS_CODING USP43 MODERATE|MISSENSE|cGg/cAg|R788Q|1123|USP43|protein_coding|CODING|ENST00000285199|exon_17_9631271_9633001 . . 0/1:99:241,0,255 . 17 9676134 rs2280490 G A NON_SYNONYMOUS_CODING DHRS7C MODERATE|MISSENSE|tCg/tTg|S227L|312|DHRS7C|protein_coding|CODING|ENST00000330255|exon_17_9676084_9676239 . . . 0/1:99:230,0,203 17 10209778 rs116935297 G A NON_SYNONYMOUS_CODING MYH13 MODERATE|MISSENSE|Cgg/Tgg|R1822W|1938|MYH13|protein_coding|CODING|ENST00000252172|exon_17_10209776_10209946 . 0/1:99:216,0,255 . 0/1:99:99,0,159 17 10298626 rs61730807 C T NON_SYNONYMOUS_CODING MYH8 MODERATE|MISSENSE|Gtc/Atc|V1596I|1937|MYH8|protein_coding|CODING|ENST00000252173|exon_17_10298450_10298758 . . 0/1:99:255,0,237 . 17 10298626 rs61730807 C T NON_SYNONYMOUS_CODING MYH8 MODERATE|MISSENSE|Gtc/Atc|V1596I|1937|MYH8|protein_coding|CODING|ENST00000403437|exon_17_10298450_10298758 . . 0/1:99:255,0,237 . 17 10312472 rs34693726 G A NON_SYNONYMOUS_CODING MYH8 MODERATE|MISSENSE|gCg/gTg|A636V|1937|MYH8|protein_coding|CODING|ENST00000252173|exon_17_10312414_10312481 . 0/1:99:234,0,255 . . 17 10312472 rs34693726 G A NON_SYNONYMOUS_CODING MYH8 MODERATE|MISSENSE|gCg/gTg|A636V|1937|MYH8|protein_coding|CODING|ENST00000403437|exon_17_10312414_10312481 . 0/1:99:234,0,255 . . 17 10360854 rs12949680 C T NON_SYNONYMOUS_CODING MYH4 MODERATE|MISSENSE|Gcc/Acc|A594T|1939|MYH4|protein_coding|CODING|ENST00000255381|exon_17_10360737_10361046 . 0/1:99:255,0,196 . . 17 10403994 rs117616137 G A NON_SYNONYMOUS_CODING MYH1 MODERATE|MISSENSE|Cgg/Tgg|R1272W|1939|MYH1|protein_coding|CODING|ENST00000226207|exon_17_10403943_10404069 0/1:99:255,0,218 . . . 17 10415269 rs117790102 A G NON_SYNONYMOUS_CODING MYH1 MODERATE|MISSENSE|Tac/Cac|Y435H|1939|MYH1|protein_coding|CODING|ENST00000226207|exon_17_10415156_10415305 . . 0/1:99:255,0,255 . 17 10415269 rs117790102 A G NON_SYNONYMOUS_CODING MYH1 MODERATE|MISSENSE|Tac/Cac|Y435H|626|MYH1|protein_coding|CODING|ENST00000379814|exon_17_10415204_10415305 . . 0/1:99:255,0,255 . 17 10534960 rs34393601 C T NON_SYNONYMOUS_CODING MYH3 MODERATE|MISSENSE|Gct/Act|A1752T|1940|MYH3|protein_coding|CODING|ENST00000226209|exon_17_10534928_10535053 0/1:99:238,0,255 . . . 17 10542709 rs34088014 G A NON_SYNONYMOUS_CODING MYH3 MODERATE|MISSENSE|gCg/gTg|A1003V|1940|MYH3|protein_coding|CODING|ENST00000226209|exon_17_10542615_10542791 0/1:99:255,0,255 . . . 17 10608518 rs34940296 T G NON_SYNONYMOUS_CODING C17orf48 MODERATE|MISSENSE|cTt/cGt|L92R|342|C17orf48|protein_coding|CODING|ENST00000379774|exon_17_10608227_10608844 0/1:99:255,0,255 . . . 17 11523046 rs117678834 C G NON_SYNONYMOUS_CODING DNAH9 MODERATE|MISSENSE|tCt/tGt|S433C|4410|DNAH9|protein_coding|CODING|ENST00000454412|exon_17_11522865_11523098 0/1:99:246,0,247 . . . 17 11523046 rs117678834 C G NON_SYNONYMOUS_CODING DNAH9 MODERATE|MISSENSE|tCt/tGt|S433C|4486|DNAH9|protein_coding|CODING|ENST00000262442|exon_17_11522865_11523098 0/1:99:246,0,247 . . . 17 11651057 rs3744581 A G NON_SYNONYMOUS_CODING DNAH9 MODERATE|MISSENSE|aAt/aGt|N2195S|4410|DNAH9|protein_coding|CODING|ENST00000454412|exon_17_11650873_11651083 1/1:99:255,72,0 . . . 17 11651057 rs3744581 A G NON_SYNONYMOUS_CODING DNAH9 MODERATE|MISSENSE|aAt/aGt|N2195S|4486|DNAH9|protein_coding|CODING|ENST00000262442|exon_17_11650873_11651083 1/1:99:255,72,0 . . . 17 11651057 rs3744581 A G NON_SYNONYMOUS_CODING DNAH9 MODERATE|MISSENSE|aAt/aGt|N777S|2992|DNAH9|protein_coding|CODING|ENST00000413703|exon_17_11650873_11651083 1/1:99:255,72,0 . . . 17 11894428 rs139692409 G A NON_SYNONYMOUS_CODING ZNF18 MODERATE|MISSENSE|cCa/cTa|P147L|549|ZNF18|protein_coding|CODING|ENST00000322748|exon_17_11894291_11894480 . . 0/1:99:255,0,255 . 17 11894428 rs139692409 G A NON_SYNONYMOUS_CODING ZNF18 MODERATE|MISSENSE|cCa/cTa|P147L|549|ZNF18|protein_coding|CODING|ENST00000454073|exon_17_11894291_11894480 . . 0/1:99:255,0,255 . 17 12899902 rs5030739 C T NON_SYNONYMOUS_CODING ELAC2 MODERATE|MISSENSE|Gct/Act|A219T|277|ELAC2|protein_coding|CODING|ENST00000457438|exon_17_12899864_12900002 . . 0/1:99:255,0,213 . 17 12899902 rs5030739 C T NON_SYNONYMOUS_CODING ELAC2 MODERATE|MISSENSE|Gct/Act|A501T|786|ELAC2|protein_coding|CODING|ENST00000426905|exon_17_12899864_12900002 . . 0/1:99:255,0,213 . 17 12899902 rs5030739 C T NON_SYNONYMOUS_CODING ELAC2 MODERATE|MISSENSE|Gct/Act|A522T|807|ELAC2|protein_coding|CODING|ENST00000395962|exon_17_12899864_12900002 . . 0/1:99:255,0,213 . 17 12899902 rs5030739 C T NON_SYNONYMOUS_CODING ELAC2 MODERATE|MISSENSE|Gct/Act|A541T|826|ELAC2|protein_coding|CODING|ENST00000338034|exon_17_12899864_12900002 . . 0/1:99:255,0,213 . 17 15443734 rs200768112 A G NON_SYNONYMOUS_CODING FAM18B2 MODERATE|MISSENSE|Tgg/Cgg|W202R|203|FAM18B2|protein_coding|CODING|ENST00000428082|exon_17_15440295_15443875 . . 1/1:61:255,32,0 0/1:99:167,0,111 17 15443742 rs138309602 C G NON_SYNONYMOUS_CODING FAM18B2 MODERATE|MISSENSE|aGt/aCt|S199T|203|FAM18B2|protein_coding|CODING|ENST00000428082|exon_17_15440295_15443875 . . 1/1:69:255,36,0 0/1:99:156,0,107 17 15973774 rs61753150 T G NON_SYNONYMOUS_CODING NCOR1 MODERATE|MISSENSE|ttA/ttC|L1313F|2343|NCOR1|protein_coding|CODING|ENST00000395849|exon_17_15973479_15973839 . 0/1:99:238,0,255 . . 17 15973774 rs61753150 T G NON_SYNONYMOUS_CODING NCOR1 MODERATE|MISSENSE|ttA/ttC|L1406F|2440|NCOR1|protein_coding|CODING|ENST00000268712|exon_17_15973479_15973839 . 0/1:99:238,0,255 . . 17 15973774 rs61753150 T G NON_SYNONYMOUS_CODING NCOR1 MODERATE|MISSENSE|ttA/ttC|L1422F|2337|NCOR1|protein_coding|CODING|ENST00000395851|exon_17_15973479_15973839 . 0/1:99:238,0,255 . . 17 16097870 rs76145228 C A NON_SYNONYMOUS_CODING NCOR1 MODERATE|MISSENSE|gGt/gTt|G5V|124|NCOR1|protein_coding|CODING|ENST00000430577|exon_17_16097776_16097953 . . 0/1:78:75,0,255 . 17 16097870 rs76145228 C A NON_SYNONYMOUS_CODING NCOR1 MODERATE|MISSENSE|gGt/gTt|G5V|2337|NCOR1|protein_coding|CODING|ENST00000395851|exon_17_16097776_16097927 . . 0/1:78:75,0,255 . 17 16097870 rs76145228 C A NON_SYNONYMOUS_CODING NCOR1 MODERATE|MISSENSE|gGt/gTt|G5V|2343|NCOR1|protein_coding|CODING|ENST00000395849|exon_17_16097776_16097953 . . 0/1:78:75,0,255 . 17 16097870 rs76145228 C A NON_SYNONYMOUS_CODING NCOR1 MODERATE|MISSENSE|gGt/gTt|G5V|2440|NCOR1|protein_coding|CODING|ENST00000268712|exon_17_16097776_16097953 . . 0/1:78:75,0,255 . 17 16097870 rs76145228 C A NON_SYNONYMOUS_CODING NCOR1 MODERATE|MISSENSE|gGt/gTt|G5V|536|NCOR1|protein_coding|CODING|ENST00000436828|exon_17_16097776_16097953 . . 0/1:78:75,0,255 . 17 16097870 rs76145228 C A NON_SYNONYMOUS_CODING NCOR1 MODERATE|MISSENSE|gGt/gTt|G5V|540|NCOR1|protein_coding|CODING|ENST00000458113|exon_17_16097776_16097953 . . 0/1:78:75,0,255 . 17 16097870 rs76145228 C A NON_SYNONYMOUS_CODING NCOR1 MODERATE|MISSENSE|gGt/gTt|G5V|544|NCOR1|protein_coding|CODING|ENST00000411510|exon_17_16097776_16097953 . . 0/1:78:75,0,255 . 17 16097870 rs76145228 C A NON_SYNONYMOUS_CODING NCOR1 MODERATE|MISSENSE|gGt/gTt|G5V|914|NCOR1|protein_coding|CODING|ENST00000395848|exon_17_16097776_16097953 . . 0/1:78:75,0,255 . 17 16455475 rs147165015 C T NON_SYNONYMOUS_CODING ZNF287 MODERATE|MISSENSE|Gca/Aca|A661T|761|ZNF287|protein_coding|CODING|ENST00000395824|exon_17_16454701_16456740 . 0/1:99:255,0,255 . . 17 16455475 rs147165015 C T NON_SYNONYMOUS_CODING ZNF287 MODERATE|MISSENSE|Gca/Aca|A661T|761|ZNF287|protein_coding|CODING|ENST00000395825|exon_17_16454701_16456740 . 0/1:99:255,0,255 . . 17 16456614 rs7224723 T G NON_SYNONYMOUS_CODING ZNF287 MODERATE|MISSENSE|aAa/aCa|K281T|761|ZNF287|protein_coding|CODING|ENST00000395824|exon_17_16454701_16456740 . . . 0/1:99:206,0,255 17 16456614 rs7224723 T G NON_SYNONYMOUS_CODING ZNF287 MODERATE|MISSENSE|aAa/aCa|K281T|761|ZNF287|protein_coding|CODING|ENST00000395825|exon_17_16454701_16456740 . . . 0/1:99:206,0,255 17 16746343 rs200881385 C T NON_SYNONYMOUS_CODING KRT17P1 MODERATE|MISSENSE|Ggt/Agt|G235S|441|KRT17P1|protein_coding|CODING|ENST00000399211|exon_17_16746212_16746373 0/1:99:110,0,160 . 0/1:99:173,0,241 . 17 16892334 rs57096150 C T NON_SYNONYMOUS_CODING AC104024.2.1 MODERATE|MISSENSE|Cgc/Tgc|R59C|90|AC104024.2.1|protein_coding|CODING|ENST00000419151|exon_17_16892229_16892364 . 0/1:99:231,0,255 0/1:99:185,0,255 0/1:99:179,0,230 17 17183974 rs117743490 A C NON_SYNONYMOUS_CODING COPS3 MODERATE|MISSENSE|cTg/cGg|L14R|276|COPS3|protein_coding|CODING|ENST00000439936|exon_17_17183888_17184014 . 0/1:99:209,0,184 . . 17 17698259 . C T NON_SYNONYMOUS_CODING RAI1 MODERATE|MISSENSE|gCc/gTc|A618V|1862|RAI1|protein_coding|CODING|ENST00000315321|exon_17_17697562_17700505 . . . 0/1:99:201,0,223 17 17698259 . C T NON_SYNONYMOUS_CODING RAI1 MODERATE|MISSENSE|gCc/gTc|A666V|1640|RAI1|protein_coding|CODING|ENST00000261641|exon_17_17696263_17701056 . . . 0/1:99:201,0,223 17 17698259 . C T NON_SYNONYMOUS_CODING RAI1 MODERATE|MISSENSE|gCc/gTc|A666V|1906|RAI1|protein_coding|CODING|ENST00000353383|exon_17_17696247_17701827 . . . 0/1:99:201,0,223 17 17698259 . C T NON_SYNONYMOUS_CODING RAI1 MODERATE|MISSENSE|gCc/gTc|A666V|1993|RAI1|protein_coding|CODING|ENST00000395776|exon_17_17696263_17701827 . . . 0/1:99:201,0,223 17 17698259 . C T NON_SYNONYMOUS_CODING RAI1 MODERATE|MISSENSE|gCc/gTc|A666V|941|RAI1|protein_coding|CODING|ENST00000395774|exon_17_17696247_17699090 . . . 0/1:99:201,0,223 17 17698259 . C T NON_SYNONYMOUS_CODING RAI1 MODERATE|MISSENSE|gCc/gTc|A666V|966|RAI1|protein_coding|CODING|ENST00000355970|exon_17_17696263_17699091 . . . 0/1:99:201,0,223 17 17700557 rs201405375 C T NON_SYNONYMOUS_CODING RAI1 MODERATE|MISSENSE|cCg/cTg|P1432L|1640|RAI1|protein_coding|CODING|ENST00000261641|exon_17_17696263_17701056 0/1:99:243,0,241 . . . 17 17700557 rs201405375 C T NON_SYNONYMOUS_CODING RAI1 MODERATE|MISSENSE|cCg/cTg|P1432L|1906|RAI1|protein_coding|CODING|ENST00000353383|exon_17_17696247_17701827 0/1:99:243,0,241 . . . 17 17700557 rs201405375 C T NON_SYNONYMOUS_CODING RAI1 MODERATE|MISSENSE|cCg/cTg|P1432L|1993|RAI1|protein_coding|CODING|ENST00000395776|exon_17_17696263_17701827 0/1:99:243,0,241 . . . 17 18043906 rs200146361 C T NON_SYNONYMOUS_CODING MYO15A MODERATE|MISSENSE|Cgg/Tgg|R1763W|3530|MYO15A|protein_coding|CODING|ENST00000205890|exon_17_18043831_18043979 . 0/1:99:213,0,255 . . 17 18046138 rs139347804 G A NON_SYNONYMOUS_CODING MYO15A MODERATE|MISSENSE|cGc/cAc|R1965H|3530|MYO15A|protein_coding|CODING|ENST00000205890|exon_17_18046070_18046154 . . . 0/1:99:203,0,247 17 18315401 . T G NON_SYNONYMOUS_CODING AL353997.1 MODERATE|MISSENSE|cTt/cGt|L184R|221|AL353997.1|protein_coding|CODING|ENST00000407600|exon_17_18315109_18316112 0/1:5:56,0,2 . . . 17 18647588 . G T NON_SYNONYMOUS_CODING FBXW10 MODERATE|MISSENSE|Gcc/Tcc|A11S|1051|FBXW10|protein_coding|CODING|ENST00000395667|exon_17_18647326_18648062 . . . 0/1:99:237,0,162 17 18647588 . G T NON_SYNONYMOUS_CODING FBXW10 MODERATE|MISSENSE|Gcc/Tcc|A11S|1052|FBXW10|protein_coding|CODING|ENST00000395665|exon_17_18647558_18648062 . . . 0/1:99:237,0,162 17 18647588 . G T NON_SYNONYMOUS_CODING FBXW10 MODERATE|MISSENSE|Gcc/Tcc|A11S|1061|FBXW10|protein_coding|CODING|ENST00000308799|exon_17_18647339_18648062 . . . 0/1:99:237,0,162 17 18647588 . G T NON_SYNONYMOUS_CODING FBXW10 MODERATE|MISSENSE|Gcc/Tcc|A11S|999|FBXW10|protein_coding|CODING|ENST00000301938|exon_17_18647388_18648062 . . . 0/1:99:237,0,162 17 18996566 rs201105328 A G NON_SYNONYMOUS_CODING AC007952.5.1 MODERATE|MISSENSE|cAg/cGg|Q21R|130|AC007952.5.1|protein_coding|CODING|ENST00000443876|exon_17_18996287_18996619 0/1:81:78,0,201 . . . 17 18996566 rs201105328 A G NON_SYNONYMOUS_CODING AC007952.5.1 MODERATE|MISSENSE|cAg/cGg|Q21R|167|AC007952.5.1|protein_coding|CODING|ENST00000428928|exon_17_18996287_18996619 0/1:81:78,0,201 . . . 17 18996566 rs201105328 A G NON_SYNONYMOUS_CODING AC007952.5.1 MODERATE|MISSENSE|cAg/cGg|Q5R|114|AC007952.5.1|protein_coding|CODING|ENST00000399093|exon_17_18996524_18996619 0/1:81:78,0,201 . . . 17 18996566 rs201105328 A G NON_SYNONYMOUS_CODING AC007952.5.1 MODERATE|MISSENSE|cAg/cGg|Q5R|151|AC007952.5.1|protein_coding|CODING|ENST00000399091|exon_17_18996287_18996619 0/1:81:78,0,201 . . . 17 19317774 . G A NON_SYNONYMOUS_CODING RNF112 MODERATE|MISSENSE|Gtg/Atg|V180M|314|RNF112|protein_coding|CODING|ENST00000453070|exon_17_19317762_19317818 . . 0/1:99:195,0,140 . 17 19317774 . G A NON_SYNONYMOUS_CODING RNF112 MODERATE|MISSENSE|Gtg/Atg|V297M|631|RNF112|protein_coding|CODING|ENST00000461366|exon_17_19317762_19317818 . . 0/1:99:195,0,140 . 17 19641447 rs917520 G A NON_SYNONYMOUS_CODING ALDH3A1 MODERATE|MISSENSE|Cgc/Tgc|R389C|400|ALDH3A1|protein_coding|CODING|ENST00000457844|exon_17_19641409_19641472 0/1:77:74,0,166 . . . 17 19651611 rs4646786 C T NON_SYNONYMOUS_CODING ALDH3A1 MODERATE|MISSENSE|cGt/cAt|R45H|511|ALDH3A1|protein_coding|CODING|ENST00000379258|exon_17_19651572_19651746 0/1:99:240,0,127 . . . 17 20013855 . G A NON_SYNONYMOUS_CODING SPECC1 MODERATE|MISSENSE|aGc/aAc|S88N|1029|SPECC1|protein_coding|CODING|ENST00000395530|exon_17_20013740_20013875 . . 0/1:99:235,0,229 . 17 20013855 . G A NON_SYNONYMOUS_CODING SPECC1 MODERATE|MISSENSE|aGc/aAc|S88N|1068|SPECC1|protein_coding|CODING|ENST00000261503|exon_17_20013740_20013875 . . 0/1:99:235,0,229 . 17 20013855 . G A NON_SYNONYMOUS_CODING SPECC1 MODERATE|MISSENSE|aGc/aAc|S88N|790|SPECC1|protein_coding|CODING|ENST00000395529|exon_17_20013740_20013875 . . 0/1:99:235,0,229 . 17 20135672 rs35835131 G A NON_SYNONYMOUS_CODING SPECC1 MODERATE|MISSENSE|Gat/Aat|D109N|408|SPECC1|protein_coding|CODING|ENST00000536879|exon_17_20135513_20135718 . . 0/1:99:255,0,222 . 17 20135672 rs35835131 G A NON_SYNONYMOUS_CODING SPECC1 MODERATE|MISSENSE|Gat/Aat|D688N|703|SPECC1|protein_coding|CODING|ENST00000395522|exon_17_20135513_20135727 . . 0/1:99:255,0,222 . 17 20135672 rs35835131 G A NON_SYNONYMOUS_CODING SPECC1 MODERATE|MISSENSE|Gat/Aat|D688N|709|SPECC1|protein_coding|CODING|ENST00000395525|exon_17_20135513_20135718 . . 0/1:99:255,0,222 . 17 20135672 rs35835131 G A NON_SYNONYMOUS_CODING SPECC1 MODERATE|MISSENSE|Gat/Aat|D688N|987|SPECC1|protein_coding|CODING|ENST00000395527|exon_17_20135513_20135718 . . 0/1:99:255,0,222 . 17 20135672 rs35835131 G A NON_SYNONYMOUS_CODING SPECC1 MODERATE|MISSENSE|Gat/Aat|D769N|1029|SPECC1|protein_coding|CODING|ENST00000395530|exon_17_20135513_20135718 . . 0/1:99:255,0,222 . 17 20135672 rs35835131 G A NON_SYNONYMOUS_CODING SPECC1 MODERATE|MISSENSE|Gat/Aat|D769N|1068|SPECC1|protein_coding|CODING|ENST00000261503|exon_17_20135513_20135718 . . 0/1:99:255,0,222 . 17 20135672 rs35835131 G A NON_SYNONYMOUS_CODING SPECC1 MODERATE|MISSENSE|Gat/Aat|D769N|790|SPECC1|protein_coding|CODING|ENST00000395529|exon_17_20135513_20135718 . . 0/1:99:255,0,222 . 17 21147520 rs12449311 C T NON_SYNONYMOUS_CODING C17orf103 MODERATE|MISSENSE|Gtc/Atc|V41I|112|C17orf103|protein_coding|CODING|ENST00000399011|exon_17_21147419_21147537 . 0/1:99:213,0,135 . . 17 21194820 rs66503560 G A NON_SYNONYMOUS_CODING MAP2K3 MODERATE|MISSENSE|Gtg/Atg|V41M|78|MAP2K3|protein_coding|CODING|ENST00000534743|exon_17_21194749_21195029 . . . 0/1:83:80,0,255 17 21199051 rs56020453 T C NON_SYNONYMOUS_CODING MAP2K3 MODERATE|MISSENSE|aTc/aCc|I72T|100|MAP2K3|protein_coding|CODING|ENST00000529517|exon_17_21198987_21199081 . 0/1:99:150,0,255 0/1:99:220,0,255 . 17 21318760 rs74880280 G T NON_SYNONYMOUS_CODING KCNJ12 MODERATE|MISSENSE|Gtg/Ttg|V36L|433|KCNJ12|protein_coding|CODING|ENST00000331718|exon_17_21318599_21320404 0/1:80:77,0,255 . . . 17 21319079 rs76518282 C A NON_SYNONYMOUS_CODING KCNJ12 MODERATE|MISSENSE|aCc/aAc|T142N|433|KCNJ12|protein_coding|CODING|ENST00000331718|exon_17_21318599_21320404 . . . 0/1:59:56,0,255 17 25904756 rs79348765 G A NON_SYNONYMOUS_CODING KSR1 MODERATE|MISSENSE|cGt/cAt|R85H|124|KSR1|protein_coding|CODING|ENST00000398985|exon_17_25904518_25906904 . 0/1:99:153,0,220 . . 17 25931718 rs55646895 G C NON_SYNONYMOUS_CODING KSR1 MODERATE|MISSENSE|caG/caC|Q411H|761|KSR1|protein_coding|CODING|ENST00000398982|exon_17_25931706_25931754 0/1:99:243,0,255 . . . 17 25931718 rs55646895 G C NON_SYNONYMOUS_CODING KSR1 MODERATE|MISSENSE|caG/caC|Q411H|786|KSR1|protein_coding|CODING|ENST00000268763|exon_17_25931706_25931754 0/1:99:243,0,255 . . . 17 25931718 rs55646895 G C NON_SYNONYMOUS_CODING KSR1 MODERATE|MISSENSE|caG/caC|Q526H|876|KSR1|protein_coding|CODING|ENST00000509603|exon_17_25931706_25931754 0/1:99:243,0,255 . . . 17 25931718 rs55646895 G C NON_SYNONYMOUS_CODING KSR1 MODERATE|MISSENSE|caG/caC|Q548H|923|KSR1|protein_coding|CODING|ENST00000319524|exon_17_25931706_25931754 0/1:99:243,0,255 . . . 17 26686416 rs11538927 G A NON_SYNONYMOUS_CODING TMEM199 MODERATE|MISSENSE|Gtc/Atc|V122I|208|TMEM199|protein_coding|CODING|ENST00000292114|exon_17_26686338_26686427 . . . 0/1:99:251,0,239 17 26686416 rs11538927 G A NON_SYNONYMOUS_CODING TMEM199 MODERATE|MISSENSE|Gtc/Atc|V122I|299|TMEM199|protein_coding|CODING|ENST00000509083|exon_17_26686338_26686427 . . . 0/1:99:251,0,239 17 26686416 rs11538927 G A NON_SYNONYMOUS_CODING TMEM199 MODERATE|MISSENSE|Gtc/Atc|V40I|126|TMEM199|protein_coding|CODING|ENST00000395404|exon_17_26686338_26686427 . . . 0/1:99:251,0,239 17 26694483 rs2227728 A G NON_SYNONYMOUS_CODING SEBOX MODERATE|MISSENSE|aTc/aCc|I32T|215|SEBOX|protein_coding|CODING|ENST00000438614|exon_17_26694472_26694502 . . . 0/1:99:185,0,233 17 26694483 rs2227728 A G NON_SYNONYMOUS_CODING SEBOX MODERATE|MISSENSE|aTc/aCc|I32T|215|SEBOX|protein_coding|CODING|ENST00000536498|exon_17_26694472_26694502 . . . 0/1:99:185,0,233 17 26694483 rs2227728 A G NON_SYNONYMOUS_CODING CTB-96E2.2.1 MODERATE|MISSENSE|aTc/aCc|I58T|234|CTB-96E2.2.1|protein_coding|CODING|ENST00000555059|exon_17_26694472_26694502 . . . 0/1:99:185,0,233 17 26955330 rs12602520 A C NON_SYNONYMOUS_CODING KIAA0100 MODERATE|MISSENSE|gTt/gGt|V1373G|2092|KIAA0100|protein_coding|CODING|ENST00000544884|exon_17_26955283_26955577 . . . 1/1:99:255,96,0 17 26955330 rs12602520 A C NON_SYNONYMOUS_CODING KIAA0100 MODERATE|MISSENSE|gTt/gGt|V1486G|2205|KIAA0100|protein_coding|CODING|ENST00000389003|exon_17_26955283_26955577 . . . 1/1:99:255,96,0 17 26955330 rs12602520 A C NON_SYNONYMOUS_CODING KIAA0100 MODERATE|MISSENSE|gTt/gGt|V1516G|2235|KIAA0100|protein_coding|CODING|ENST00000005905|exon_17_26955283_26955577 . . . 1/1:99:255,96,0 17 26955330 rs12602520 A C NON_SYNONYMOUS_CODING KIAA0100 MODERATE|MISSENSE|gTt/gGt|V1516G|2235|KIAA0100|protein_coding|CODING|ENST00000528896|exon_17_26955283_26955577 . . . 1/1:99:255,96,0 17 27010367 rs141330818 C A NON_SYNONYMOUS_CODING SUPT6H MODERATE|MISSENSE|Ctc/Atc|L654I|1726|SUPT6H|protein_coding|CODING|ENST00000314616|exon_17_27010286_27010440 0/1:99:200,0,255 . . . 17 27065211 rs3809797 T C NON_SYNONYMOUS_CODING NEK8 MODERATE|MISSENSE|Tgt/Cgt|C444R|460|NEK8|protein_coding|CODING|ENST00000543014|exon_17_27065113_27065263 . . . 1/1:99:255,84,0 17 28505174 rs11544945 A C NON_SYNONYMOUS_CODING NSRP1 MODERATE|MISSENSE|aAg/aCg|K17T|489|NSRP1|protein_coding|CODING|ENST00000540900|exon_17_28505173_28505217 . . . 0/1:99:255,0,255 17 28505174 rs11544945 A C NON_SYNONYMOUS_CODING NSRP1 MODERATE|MISSENSE|aAg/aCg|K32T|352|NSRP1|protein_coding|CODING|ENST00000394826|exon_17_28505088_28505217 . . . 0/1:99:255,0,255 17 28505174 rs11544945 A C NON_SYNONYMOUS_CODING NSRP1 MODERATE|MISSENSE|aAg/aCg|K86T|558|NSRP1|protein_coding|CODING|ENST00000247026|exon_17_28505089_28505217 . . . 0/1:99:255,0,255 17 29161202 rs9910051 A T NON_SYNONYMOUS_CODING ATAD5 MODERATE|MISSENSE|Acc/Tcc|T35S|1844|ATAD5|protein_coding|CODING|ENST00000321990|exon_17_29161166_29163066 . 0/1:99:255,0,222 . . 17 29161358 rs3816780 C T NON_SYNONYMOUS_CODING ATAD5 MODERATE|MISSENSE|Cct/Tct|P87S|1844|ATAD5|protein_coding|CODING|ENST00000321990|exon_17_29161166_29163066 . 0/1:99:255,0,255 . . 17 29161845 rs17826219 G A NON_SYNONYMOUS_CODING ATAD5 MODERATE|MISSENSE|aGa/aAa|R249K|1844|ATAD5|protein_coding|CODING|ENST00000321990|exon_17_29161166_29163066 . 0/1:99:255,0,255 . . 17 29161955 . ACAATGTCAAT ACAAT CODON_CHANGE_PLUS_CODON_DELETION ATAD5 MODERATE||atgtcaatt/att|MSI287I|1844|ATAD5|protein_coding|CODING|ENST00000321990|exon_17_29161166_29163066 . 0/1:99:210,0,255 . . 17 29167653 rs3764421 A C NON_SYNONYMOUS_CODING ATAD5 MODERATE|MISSENSE|Aac/Cac|N699H|1844|ATAD5|protein_coding|CODING|ENST00000321990|exon_17_29167635_29167799 . 0/1:99:255,0,255 . . 17 29214387 rs11657270 T C NON_SYNONYMOUS_CODING ATAD5 MODERATE|MISSENSE|Tat/Cat|Y1419H|1844|ATAD5|protein_coding|CODING|ENST00000321990|exon_17_29214210_29214390 . 0/1:99:255,0,242 . . 17 29226228 rs2433 T C NON_SYNONYMOUS_CODING TEFM MODERATE|MISSENSE|Att/Gtt|I348V|360|TEFM|protein_coding|CODING|ENST00000306049|exon_17_29226001_29226624 . 0/1:99:255,0,255 . . 17 30221704 . C T NON_SYNONYMOUS_CODING UTP6 MODERATE|MISSENSE|cGg/cAg|R91Q|597|UTP6|protein_coding|CODING|ENST00000261708|exon_17_30221664_30221756 . . 0/1:99:244,0,255 . 17 30469614 . C T NON_SYNONYMOUS_CODING AC090616.2.1 MODERATE|MISSENSE|Ggc/Agc|G42S|142|AC090616.2.1|protein_coding|CODING|ENST00000398832|exon_17_30468245_30469732 0/1:99:101,0,133 . . . 17 32647831 rs1133763 A C NON_SYNONYMOUS_CODING CCL8 MODERATE|MISSENSE|Aaa/Caa|K69Q|99|CCL8|protein_coding|CODING|ENST00000225840|exon_17_32647821_32648420 0/1:99:240,0,255 0/1:99:247,0,218 . 0/1:99:255,0,255 17 32647831 rs1133763 A C NON_SYNONYMOUS_CODING CCL8 MODERATE|MISSENSE|Aaa/Caa|K79Q|109|CCL8|protein_coding|CODING|ENST00000394620|exon_17_32647821_32648421 0/1:99:240,0,255 0/1:99:247,0,218 . 0/1:99:255,0,255 17 32906038 rs117721431 G C NON_SYNONYMOUS_CODING C17orf102 MODERATE|MISSENSE|Cgc/Ggc|R88G|167|C17orf102|protein_coding|CODING|ENST00000357754|exon_17_32905890_32906388 . . . 0/1:99:199,0,240 17 33288403 rs201942552 T C NON_SYNONYMOUS_CODING CCT6B MODERATE|MISSENSE|Ata/Gta|I4V|485|CCT6B|protein_coding|CODING|ENST00000436961|exon_17_33288276_33288465 0/1:99:173,0,235 . . . 17 33288403 rs201942552 T C NON_SYNONYMOUS_CODING CCT6B MODERATE|MISSENSE|Ata/Gta|I4V|493|CCT6B|protein_coding|CODING|ENST00000421975|exon_17_33288276_33288417 0/1:99:173,0,235 . . . 17 33288403 rs201942552 T C NON_SYNONYMOUS_CODING CCT6B MODERATE|MISSENSE|Ata/Gta|I4V|530|CCT6B|protein_coding|CODING|ENST00000314144|exon_17_33288276_33288506 0/1:99:173,0,235 . . . 17 33332655 rs60014690 A G NON_SYNONYMOUS_CODING AC004223.1 MODERATE|MISSENSE|aAt/aGt|N126S|140|AC004223.1|protein_coding|CODING|ENST00000415412|exon_17_33332275_33333756 . . 0/1:99:255,0,255 . 17 33498350 . A G NON_SYNONYMOUS_CODING UNC45B MODERATE|MISSENSE|Aag/Gag|K488E|850|UNC45B|protein_coding|CODING|ENST00000378449|exon_17_33498341_33498481 . . 0/1:99:251,0,209 . 17 33498350 . A G NON_SYNONYMOUS_CODING UNC45B MODERATE|MISSENSE|Aag/Gag|K567E|929|UNC45B|protein_coding|CODING|ENST00000433649|exon_17_33498341_33498481 . . 0/1:99:251,0,209 . 17 33498350 . A G NON_SYNONYMOUS_CODING UNC45B MODERATE|MISSENSE|Aag/Gag|K569E|931|UNC45B|protein_coding|CODING|ENST00000268876|exon_17_33498341_33498481 . . 0/1:99:251,0,209 . 17 33498350 . A G NON_SYNONYMOUS_CODING UNC45B MODERATE|MISSENSE|Aag/Gag|K569E|931|UNC45B|protein_coding|CODING|ENST00000394570|exon_17_33498341_33498481 . . 0/1:99:251,0,209 . 17 33513337 rs11654824 T A NON_SYNONYMOUS_CODING UNC45B MODERATE|MISSENSE|aTc/aAc|I771N|850|UNC45B|protein_coding|CODING|ENST00000378449|exon_17_33513318_33516360 . 0/1:99:198,0,255 . . 17 33513337 rs11654824 T A NON_SYNONYMOUS_CODING UNC45B MODERATE|MISSENSE|aTc/aAc|I850N|929|UNC45B|protein_coding|CODING|ENST00000433649|exon_17_33513318_33516360 . 0/1:99:198,0,255 . . 17 33513337 rs11654824 T A NON_SYNONYMOUS_CODING UNC45B MODERATE|MISSENSE|aTc/aAc|I852N|931|UNC45B|protein_coding|CODING|ENST00000268876|exon_17_33513318_33516360 . 0/1:99:198,0,255 . . 17 33513337 rs11654824 T A NON_SYNONYMOUS_CODING UNC45B MODERATE|MISSENSE|aTc/aAc|I852N|931|UNC45B|protein_coding|CODING|ENST00000394570|exon_17_33513318_33516364 . 0/1:99:198,0,255 . . 17 33592323 rs113644060 C G NON_SYNONYMOUS_CODING SLFN5 MODERATE|MISSENSE|Cct/Gct|P698A|891|SLFN5|protein_coding|CODING|ENST00000299977|exon_17_33592091_33594739 . . 0/1:99:242,0,244 . 17 33771996 rs72483216 G A NON_SYNONYMOUS_CODING SLFN13 MODERATE|MISSENSE|tCt/tTt|S235F|897|SLFN13|protein_coding|CODING|ENST00000285013|exon_17_33771634_33772712 . 0/1:99:255,0,255 . . 17 33771996 rs72483216 G A NON_SYNONYMOUS_CODING SLFN13 MODERATE|MISSENSE|tCt/tTt|S235F|897|SLFN13|protein_coding|CODING|ENST00000526861|exon_17_33771634_33772712 . 0/1:99:255,0,255 . . 17 33771996 rs72483216 G A NON_SYNONYMOUS_CODING SLFN13 MODERATE|MISSENSE|tCt/tTt|S235F|897|SLFN13|protein_coding|CODING|ENST00000542635|exon_17_33771634_33772712 . 0/1:99:255,0,255 . . 17 33772689 rs12943866 T C NON_SYNONYMOUS_CODING SLFN13 MODERATE|MISSENSE|aAt/aGt|N4S|105|SLFN13|protein_coding|CODING|ENST00000524511|exon_17_33772381_33772712 0/1:99:223,0,255 . . . 17 33772689 rs12943866 T C NON_SYNONYMOUS_CODING SLFN13 MODERATE|MISSENSE|aAt/aGt|N4S|579|SLFN13|protein_coding|CODING|ENST00000360502|exon_17_33772675_33772699 0/1:99:223,0,255 . . . 17 33772689 rs12943866 T C NON_SYNONYMOUS_CODING SLFN13 MODERATE|MISSENSE|aAt/aGt|N4S|579|SLFN13|protein_coding|CODING|ENST00000534689|exon_17_33772675_33772712 0/1:99:223,0,255 . . . 17 33772689 rs12943866 T C NON_SYNONYMOUS_CODING SLFN13 MODERATE|MISSENSE|aAt/aGt|N4S|897|SLFN13|protein_coding|CODING|ENST00000285013|exon_17_33771634_33772712 0/1:99:223,0,255 . . . 17 33772689 rs12943866 T C NON_SYNONYMOUS_CODING SLFN13 MODERATE|MISSENSE|aAt/aGt|N4S|897|SLFN13|protein_coding|CODING|ENST00000526861|exon_17_33771634_33772712 0/1:99:223,0,255 . . . 17 33772689 rs12943866 T C NON_SYNONYMOUS_CODING SLFN13 MODERATE|MISSENSE|aAt/aGt|N4S|897|SLFN13|protein_coding|CODING|ENST00000542635|exon_17_33771634_33772712 0/1:99:223,0,255 . . . 17 33806546 rs12451679 G A NON_SYNONYMOUS_CODING SLFN12L MODERATE|MISSENSE|tCg/tTg|S228L|588|SLFN12L|protein_coding|CODING|ENST00000260908|exon_17_33806136_33807214 . 0/1:99:255,0,255 . . 17 33806546 rs12451679 G A NON_SYNONYMOUS_CODING SLFN12L MODERATE|MISSENSE|tCg/tTg|S257L|617|SLFN12L|protein_coding|CODING|ENST00000361112|exon_17_33806136_33807214 . 0/1:99:255,0,255 . . 17 33806546 rs12451679 G A NON_SYNONYMOUS_CODING SLFN12L MODERATE|MISSENSE|tCg/tTg|S259L|619|SLFN12L|protein_coding|CODING|ENST00000449046|exon_17_33806136_33807214 . 0/1:99:255,0,255 . . 17 34077232 rs11654604 G A NON_SYNONYMOUS_CODING GAS2L2 MODERATE|MISSENSE|gCg/gTg|A164V|294|GAS2L2|protein_coding|CODING|ENST00000359507|exon_17_34077165_34077337 . . 0/1:99:255,0,140 . 17 34077232 rs11654604 G A NON_SYNONYMOUS_CODING GAS2L2 MODERATE|MISSENSE|gCg/gTg|A164V|880|GAS2L2|protein_coding|CODING|ENST00000254466|exon_17_34077096_34077337 . . 0/1:99:255,0,140 . 17 34091078 rs4795087 C G NON_SYNONYMOUS_CODING C17orf50 MODERATE|MISSENSE|gaC/gaG|D22E|174|C17orf50|protein_coding|CODING|ENST00000285023|exon_17_34091026_34091344 . . 0/1:99:255,0,242 . 17 34100245 . G A NON_SYNONYMOUS_CODING MMP28 MODERATE|MISSENSE|Cgg/Tgg|R181W|392|MMP28|protein_coding|CODING|ENST00000538544|exon_17_34100185_34100350 0/1:99:177,0,217 . . . 17 34100245 . G A NON_SYNONYMOUS_CODING MMP28 MODERATE|MISSENSE|Cgg/Tgg|R181W|519|MMP28|protein_coding|CODING|ENST00000338839|exon_17_34100185_34100350 0/1:99:177,0,217 . . . 17 34432663 rs1049807 A G NON_SYNONYMOUS_CODING CCL4 MODERATE|MISSENSE|aAt/aGt|N41S|52|CCL4|protein_coding|CODING|ENST00000394495|exon_17_34432618_34433014 . 0/1:99:212,0,236 . . 17 34432664 rs1719152 T A NON_SYNONYMOUS_CODING CCL4 MODERATE|MISSENSE|Tcc/Acc|S80T|92|CCL4|protein_coding|CODING|ENST00000250151|exon_17_34432618_34433011 . 0/1:99:211,0,231 . . 17 34432664 rs1719152 T A NON_SYNONYMOUS_CODING CCL4 MODERATE|MISSENSE|aaT/aaA|N41K|52|CCL4|protein_coding|CODING|ENST00000394495|exon_17_34432618_34433014 . 0/1:99:211,0,231 . . 17 34499247 rs199912858 T C NON_SYNONYMOUS_CODING TBC1D3B MODERATE|MISSENSE|aAg/aGg|K155R|527|TBC1D3B|protein_coding|CODING|ENST00000340106|exon_17_34499214_34499323 0/1:15:90,0,12 . . . 17 34499247 rs199912858 T C NON_SYNONYMOUS_CODING TBC1D3B MODERATE|MISSENSE|aAg/aGg|K155R|549|TBC1D3B|protein_coding|CODING|ENST00000398801|exon_17_34499214_34499323 0/1:15:90,0,12 . . . 17 34499247 rs199912858 T C NON_SYNONYMOUS_CODING TBC1D3B MODERATE|MISSENSE|aAg/aGg|K155R|549|TBC1D3B|protein_coding|CODING|ENST00000454519|exon_17_34499214_34499323 0/1:15:90,0,12 . . . 17 34854280 rs2306590 G A NON_SYNONYMOUS_CODING MYO19 MODERATE|MISSENSE|Ctc/Ttc|L321F|428|MYO19|protein_coding|CODING|ENST00000415126|exon_17_34854110_34854373 0/1:99:212,0,255 0/1:99:230,0,208 . 0/1:99:212,0,184 17 34854280 rs2306590 G A NON_SYNONYMOUS_CODING MYO19 MODERATE|MISSENSE|Ctc/Ttc|L663F|770|MYO19|protein_coding|CODING|ENST00000268852|exon_17_34854110_34854403 0/1:99:212,0,255 0/1:99:230,0,208 . 0/1:99:212,0,184 17 34854280 rs2306590 G A NON_SYNONYMOUS_CODING MYO19 MODERATE|MISSENSE|Ctc/Ttc|L863F|970|MYO19|protein_coding|CODING|ENST00000431794|exon_17_34854110_34854403 0/1:99:212,0,255 0/1:99:230,0,208 . 0/1:99:212,0,184 17 36353711 . G C NON_SYNONYMOUS_CODING RP11-1407O15.2.1 MODERATE|MISSENSE|Ctg/Gtg|L229V|324|RP11-1407O15.2.1|protein_coding|CODING|ENST00000544906|exon_17_36353601_36353765 . . . 0/1:92:89,0,255 17 36353711 . G C NON_SYNONYMOUS_CODING RP11-1407O15.2.1 MODERATE|MISSENSE|Ctg/Gtg|L380V|470|RP11-1407O15.2.1|protein_coding|CODING|ENST00000518004|exon_17_36353601_36353765 . . . 0/1:92:89,0,255 17 36353711 . G C NON_SYNONYMOUS_CODING RP11-1407O15.2.1 MODERATE|MISSENSE|Ctg/Gtg|L384V|476|RP11-1407O15.2.1|protein_coding|CODING|ENST00000520237|exon_17_36353601_36353765 . . . 0/1:92:89,0,255 17 36353711 . G C NON_SYNONYMOUS_CODING RP11-1407O15.2.1 MODERATE|MISSENSE|Ctg/Gtg|L384V|478|RP11-1407O15.2.1|protein_coding|CODING|ENST00000312412|exon_17_36353601_36353765 . . . 0/1:92:89,0,255 17 36361764 rs139025713 G C NON_SYNONYMOUS_CODING RP11-1407O15.2.1 MODERATE|MISSENSE|cCt/cGt|P190R|470|RP11-1407O15.2.1|protein_coding|CODING|ENST00000518004|exon_17_36361697_36361804 . . . 0/1:59:56,0,231 17 36361764 rs139025713 G C NON_SYNONYMOUS_CODING RP11-1407O15.2.1 MODERATE|MISSENSE|cCt/cGt|P194R|476|RP11-1407O15.2.1|protein_coding|CODING|ENST00000520237|exon_17_36361697_36361804 . . . 0/1:59:56,0,231 17 36361764 rs139025713 G C NON_SYNONYMOUS_CODING RP11-1407O15.2.1 MODERATE|MISSENSE|cCt/cGt|P194R|478|RP11-1407O15.2.1|protein_coding|CODING|ENST00000312412|exon_17_36361697_36361804 . . . 0/1:59:56,0,231 17 36361764 rs139025713 G C NON_SYNONYMOUS_CODING RP11-1407O15.2.1 MODERATE|MISSENSE|cCt/cGt|P39R|324|RP11-1407O15.2.1|protein_coding|CODING|ENST00000544906|exon_17_36361697_36361804 . . . 0/1:59:56,0,231 17 36484564 rs149998444 C G NON_SYNONYMOUS_CODING GPR179 MODERATE|MISSENSE|Gaa/Caa|E1630Q|2367|GPR179|protein_coding|CODING|ENST00000342292|exon_17_36481493_36487414 . . . 0/1:99:181,0,240 17 36486565 . C T NON_SYNONYMOUS_CODING GPR179 MODERATE|MISSENSE|Gct/Act|A963T|2367|GPR179|protein_coding|CODING|ENST00000342292|exon_17_36481493_36487414 . . 0/1:99:155,0,252 . 17 36493000 . C T NON_SYNONYMOUS_CODING GPR179 MODERATE|MISSENSE|tGc/tAc|C363Y|2367|GPR179|protein_coding|CODING|ENST00000342292|exon_17_36492861_36493096 0/1:99:217,0,150 . . . 17 36830727 rs76756126 G A NON_SYNONYMOUS_CODING C17orf96 MODERATE|MISSENSE|Ccc/Tcc|P8S|379|C17orf96|protein_coding|CODING|ENST00000325814|exon_17_36827961_36831187 . . 0/1:99:227,0,255 . 17 36909499 rs4907 A T NON_SYNONYMOUS_CODING PSMB3 MODERATE|MISSENSE|Atg/Ttg|M34L|205|PSMB3|protein_coding|CODING|ENST00000225426|exon_17_36909403_36909587 . . 0/1:99:255,0,255 0/1:99:229,0,152 17 36943169 . T C NON_SYNONYMOUS_CODING PIP4K2B MODERATE|MISSENSE|aAt/aGt|N55S|276|PIP4K2B|protein_coding|CODING|ENST00000311500|exon_17_36943076_36943173 0/1:99:255,0,255 . . . 17 36943169 . T C NON_SYNONYMOUS_CODING PIP4K2B MODERATE|MISSENSE|aAt/aGt|N55S|416|PIP4K2B|protein_coding|CODING|ENST00000269554|exon_17_36943076_36943173 0/1:99:255,0,255 . . . 17 37295935 rs114494148 G T NON_SYNONYMOUS_CODING PLXDC1 MODERATE|MISSENSE|aCg/aAg|T3K|123|PLXDC1|protein_coding|CODING|ENST00000415163|exon_17_37295907_37296085 . . 0/1:99:197,0,248 . 17 37295935 rs114494148 G T NON_SYNONYMOUS_CODING PLXDC1 MODERATE|MISSENSE|aCg/aAg|T3K|221|PLXDC1|protein_coding|CODING|ENST00000441877|exon_17_37295907_37296085 . . 0/1:99:197,0,248 . 17 37295935 rs114494148 G T NON_SYNONYMOUS_CODING PLXDC1 MODERATE|MISSENSE|aCg/aAg|T3K|240|PLXDC1|protein_coding|CODING|ENST00000539608|exon_17_37295907_37296085 . . 0/1:99:197,0,248 . 17 37295935 rs114494148 G T NON_SYNONYMOUS_CODING PLXDC1 MODERATE|MISSENSE|aCg/aAg|T3K|427|PLXDC1|protein_coding|CODING|ENST00000394318|exon_17_37295907_37296085 . . 0/1:99:197,0,248 . 17 37295935 rs114494148 G T NON_SYNONYMOUS_CODING PLXDC1 MODERATE|MISSENSE|aCg/aAg|T76K|337|PLXDC1|protein_coding|CODING|ENST00000394316|exon_17_37295907_37296085 . . 0/1:99:197,0,248 . 17 37295935 rs114494148 G T NON_SYNONYMOUS_CODING PLXDC1 MODERATE|MISSENSE|aCg/aAg|T76K|500|PLXDC1|protein_coding|CODING|ENST00000315392|exon_17_37295907_37296085 . . 0/1:99:197,0,248 . 17 37316988 rs16522 T C NON_SYNONYMOUS_CODING ARL5C MODERATE|MISSENSE|cAg/cGg|Q116R|179|ARL5C|protein_coding|CODING|ENST00000269586|exon_17_37316844_37316995 . . . 0/1:99:255,0,203 17 37316988 rs16522 T C NON_SYNONYMOUS_CODING ARL5C MODERATE|MISSENSE|cAg/cGg|Q116R|179|ARL5C|protein_coding|CODING|ENST00000444555|exon_17_37316844_37316995 . . . 0/1:99:255,0,203 17 37319029 rs544198 T G NON_SYNONYMOUS_CODING ARL5C MODERATE|MISSENSE|Atg/Ctg|M64L|179|ARL5C|protein_coding|CODING|ENST00000269586|exon_17_37318964_37319111 0/1:99:255,0,255 . . 0/1:99:235,0,201 17 37319029 rs544198 T G NON_SYNONYMOUS_CODING ARL5C MODERATE|MISSENSE|Atg/Ctg|M64L|179|ARL5C|protein_coding|CODING|ENST00000444555|exon_17_37318964_37319111 0/1:99:255,0,255 . . 0/1:99:235,0,201 17 37319065 rs657672 C T NON_SYNONYMOUS_CODING ARL5C MODERATE|MISSENSE|Gtg/Atg|V52M|179|ARL5C|protein_coding|CODING|ENST00000269586|exon_17_37318964_37319111 . . . 0/1:99:197,0,221 17 37319065 rs657672 C T NON_SYNONYMOUS_CODING ARL5C MODERATE|MISSENSE|Gtg/Atg|V52M|179|ARL5C|protein_coding|CODING|ENST00000444555|exon_17_37318964_37319111 . . . 0/1:99:197,0,221 17 37319103 rs657723 T C NON_SYNONYMOUS_CODING ARL5C MODERATE|MISSENSE|aAt/aGt|N39S|179|ARL5C|protein_coding|CODING|ENST00000269586|exon_17_37318964_37319111 0/1:99:164,0,219 . . 0/1:99:210,0,227 17 37319103 rs657723 T C NON_SYNONYMOUS_CODING ARL5C MODERATE|MISSENSE|aAt/aGt|N39S|179|ARL5C|protein_coding|CODING|ENST00000444555|exon_17_37318964_37319111 0/1:99:164,0,219 . . 0/1:99:210,0,227 17 37686920 rs34070318 C T NON_SYNONYMOUS_CODING CDK12 MODERATE|MISSENSE|cCg/cTg|P1266L|1481|CDK12|protein_coding|CODING|ENST00000430627|exon_17_37686884_37690799 . 1/1:87:255,45,0 . . 17 37686920 rs34070318 C T NON_SYNONYMOUS_CODING CDK12 MODERATE|MISSENSE|cCg/cTg|P1275L|1490|CDK12|protein_coding|CODING|ENST00000447079|exon_17_37686857_37690800 . 1/1:87:255,45,0 . . 17 37819069 . C G NON_SYNONYMOUS_CODING STARD3 MODERATE|MISSENSE|Cgg/Ggg|R398G|427|STARD3|protein_coding|CODING|ENST00000394250|exon_17_37819057_37819687 0/1:99:241,0,239 . . . 17 37819069 . C G NON_SYNONYMOUS_CODING STARD3 MODERATE|MISSENSE|Cgg/Ggg|R416G|445|STARD3|protein_coding|CODING|ENST00000336308|exon_17_37819057_37819737 0/1:99:241,0,239 . . . 17 37819069 . C G NON_SYNONYMOUS_CODING STARD3 MODERATE|MISSENSE|Cgg/Ggg|R416G|445|STARD3|protein_coding|CODING|ENST00000544210|exon_17_37819057_37820454 0/1:99:241,0,239 . . . 17 38100673 rs72832968 C G NON_SYNONYMOUS_CODING LRRC3C MODERATE|MISSENSE|Ctc/Gtc|L172V|275|LRRC3C|protein_coding|CODING|ENST00000377924|exon_17_38100186_38100987 . . 0/1:99:136,0,202 . 17 38955991 rs7209228 C T NON_SYNONYMOUS_CODING KRT28 MODERATE|MISSENSE|gGc/gAc|G52D|464|KRT28|protein_coding|CODING|ENST00000306658|exon_17_38955696_38956211 0/1:99:255,0,218 . 0/1:99:231,0,202 . 17 38991052 rs1044806 T G NON_SYNONYMOUS_CODING TMEM99 MODERATE|MISSENSE|cTt/cGt|L95R|188|TMEM99|protein_coding|CODING|ENST00000436612|exon_17_38990634_38991337 0/1:99:198,0,255 . 0/1:99:213,0,255 0/1:99:204,0,255 17 38991052 rs1044806 T G NON_SYNONYMOUS_CODING TMEM99 MODERATE|MISSENSE|cTt/cGt|L95R|258|TMEM99|protein_coding|CODING|ENST00000301665|exon_17_38990634_38992522 0/1:99:198,0,255 . 0/1:99:213,0,255 0/1:99:204,0,255 17 39023381 rs17566772 G A NON_SYNONYMOUS_CODING KRT12 MODERATE|MISSENSE|Cgg/Tgg|R20W|494|KRT12|protein_coding|CODING|ENST00000251643|exon_17_39022872_39023462 . . 0/1:99:188,0,255 0/1:99:190,0,166 17 39041052 rs7212483 C T NON_SYNONYMOUS_CODING KRT20 MODERATE|MISSENSE|aGt/aAt|S129N|424|KRT20|protein_coding|CODING|ENST00000167588|exon_17_39041048_39041479 . . 0/1:99:176,0,255 0/1:99:255,0,165 17 39114962 rs7213256 C T NON_SYNONYMOUS_CODING KRT39 MODERATE|MISSENSE|cGg/cAg|R456Q|491|KRT39|protein_coding|CODING|ENST00000355612|exon_17_39114669_39115111 0/1:99:241,0,255 . . . 17 39134528 rs16968862 G A NON_SYNONYMOUS_CODING KRT40 MODERATE|MISSENSE|tCg/tTg|S406L|431|KRT40|protein_coding|CODING|ENST00000377755|exon_17_39133968_39134548 0/1:99:180,0,255 . . . 17 39134528 rs16968862 G A NON_SYNONYMOUS_CODING KRT40 MODERATE|MISSENSE|tCg/tTg|S406L|431|KRT40|protein_coding|CODING|ENST00000398486|exon_17_39134134_39134548 0/1:99:180,0,255 . . . 17 39135207 rs150812789 A G NON_SYNONYMOUS_CODING KRT40 MODERATE|MISSENSE|Tgt/Cgt|C349R|431|KRT40|protein_coding|CODING|ENST00000377755|exon_17_39135056_39135276 0/1:99:150,0,251 . 0/1:99:206,0,121 0/1:99:199,0,255 17 39135207 rs150812789 A G NON_SYNONYMOUS_CODING KRT40 MODERATE|MISSENSE|Tgt/Cgt|C349R|431|KRT40|protein_coding|CODING|ENST00000398486|exon_17_39135056_39135276 0/1:99:150,0,251 . 0/1:99:206,0,121 0/1:99:199,0,255 17 39156027 rs3829598 G A NON_SYNONYMOUS_CODING KRTAP3-2 MODERATE|MISSENSE|Cgc/Tgc|R27C|98|KRTAP3-2|protein_coding|CODING|ENST00000391587|exon_17_39155447_39156138 0/1:99:255,0,255 . . 0/1:99:255,0,244 17 39186168 rs8074887 A C NON_SYNONYMOUS_CODING KRTAP1-4 MODERATE|MISSENSE|Tct/Gct|S55A|121|KRTAP1-4|protein_coding|CODING|ENST00000377747|exon_17_39185929_39186377 0/1:99:227,0,206 . . 0/1:99:233,0,184 17 39190758 rs62622847 T C NON_SYNONYMOUS_CODING KRTAP1-3 MODERATE|MISSENSE|Atc/Gtc|I106V|167|KRTAP1-3|protein_coding|CODING|ENST00000344363|exon_17_39190142_39191107 0/1:99:180,0,215 . . 0/1:99:191,0,238 17 39203455 rs9635728 G C NON_SYNONYMOUS_CODING KRTAP2-1 MODERATE|MISSENSE|cCc/cGc|P22R|124|KRTAP2-1|protein_coding|CODING|ENST00000542137|exon_17_39203217_39203519 0/1:72:79,0,70 . . 0/1:99:116,0,100 17 39203455 rs9635728 G C NON_SYNONYMOUS_CODING KRTAP2-1 MODERATE|MISSENSE|cCc/cGc|P22R|128|KRTAP2-1|protein_coding|CODING|ENST00000391419|exon_17_39202793_39203568 0/1:72:79,0,70 . . 0/1:99:116,0,100 17 39203490 rs6503578 G C NON_SYNONYMOUS_CODING KRTAP2-1 MODERATE|MISSENSE|ttC/ttG|F10L|124|KRTAP2-1|protein_coding|CODING|ENST00000542137|exon_17_39203217_39203519 0/1:61:122,0,58 . . 0/1:90:126,0,87 17 39203490 rs6503578 G C NON_SYNONYMOUS_CODING KRTAP2-1 MODERATE|MISSENSE|ttC/ttG|F10L|128|KRTAP2-1|protein_coding|CODING|ENST00000391419|exon_17_39202793_39203568 0/1:61:122,0,58 . . 0/1:90:126,0,87 17 39216085 rs113397060 C T NON_SYNONYMOUS_CODING KRTAP2-3 MODERATE|MISSENSE|tGc/tAc|C73Y|128|KRTAP2-3|protein_coding|CODING|ENST00000391418|exon_17_39215495_39216344 0/1:86:83,0,239 . . 0/1:81:173,0,78 17 39253960 rs144672535 C T NON_SYNONYMOUS_CODING KRTAP4-8 MODERATE|MISSENSE|cGc/cAc|R111H|155|KRTAP4-8|protein_coding|CODING|ENST00000332991|exon_17_39253954_39254078 0/1:62:59,0,109 1/1:87:96,45,0 1/1:37:134,20,0 0/1:76:73,0,150 17 39253960 rs144672535 C T NON_SYNONYMOUS_CODING KRTAP4-8 MODERATE|MISSENSE|cGc/cAc|R126H|185|KRTAP4-8|protein_coding|CODING|ENST00000333822|exon_17_39253233_39254393 0/1:62:59,0,109 1/1:87:96,45,0 1/1:37:134,20,0 0/1:76:73,0,150 17 39254257 rs142487897 G T NON_SYNONYMOUS_CODING KRTAP4-8 MODERATE|MISSENSE|cCc/cAc|P27H|155|KRTAP4-8|protein_coding|CODING|ENST00000332991|exon_17_39254124_39254336 . . . 0/1:99:165,0,175 17 39254257 rs142487897 G T NON_SYNONYMOUS_CODING KRTAP4-8 MODERATE|MISSENSE|cCc/cAc|P27H|185|KRTAP4-8|protein_coding|CODING|ENST00000333822|exon_17_39253233_39254393 . . . 0/1:99:165,0,175 17 39258293 rs79454827 C T NON_SYNONYMOUS_CODING AC100808.7.1 MODERATE|MISSENSE|Gtg/Atg|V57M|235|AC100808.7.1|protein_coding|CODING|ENST00000440582|exon_17_39257754_39258461 0/1:98:171,0,95 . . . 17 39261693 rs113059833 A T NON_SYNONYMOUS_CODING KRTAP4-9 MODERATE|MISSENSE|gAc/gTc|D18V|201|KRTAP4-9|protein_coding|CODING|ENST00000333994|exon_17_39261641_39261961 . 0/1:63:60,0,242 . . 17 39261693 rs113059833 A T NON_SYNONYMOUS_CODING KRTAP4-9 MODERATE|MISSENSE|gAc/gTc|D18V|210|KRTAP4-9|protein_coding|CODING|ENST00000391415|exon_17_39261584_39262740 . 0/1:63:60,0,242 . . 17 39296361 rs146882220 A G NON_SYNONYMOUS_CODING KRTAP4-6 MODERATE|MISSENSE|Tcc/Ccc|S127P|205|KRTAP4-6|protein_coding|CODING|ENST00000345847|exon_17_39295685_39296739 . 0/1:53:50,0,255 . . 17 39296466 rs35985080 G A NON_SYNONYMOUS_CODING KRTAP4-6 MODERATE|MISSENSE|Ccc/Tcc|P92S|205|KRTAP4-6|protein_coding|CODING|ENST00000345847|exon_17_39295685_39296739 . . 0/1:99:172,0,242 . 17 39305646 rs1846044 C T NON_SYNONYMOUS_CODING KRTAP4-5 MODERATE|MISSENSE|tGc/tAc|C125Y|181|KRTAP4-5|protein_coding|CODING|ENST00000343246|exon_17_39305178_39306054 . . 0/1:99:255,0,197 . 17 39305799 rs141998775 CTGGATTCACAGCAAT C CODON_CHANGE_PLUS_CODON_DELETION KRTAP4-5 MODERATE||tattgctgtgaatccagc/tgc|YCCESS69C|181|KRTAP4-5|protein_coding|CODING|ENST00000343246|exon_17_39305178_39306054 . 0/1:65:62,0,255 0/1:88:85,0,188 . 17 39346632 rs112783535 C T NON_SYNONYMOUS_CODING KRTAP9-1 MODERATE|MISSENSE|cCa/cTa|P165L|250|KRTAP9-1|protein_coding|CODING|ENST00000398470|exon_17_39346139_39346891 . . 0/1:99:178,0,174 . 17 39394755 rs141050869 C A NON_SYNONYMOUS_CODING KRTAP9-8 MODERATE|MISSENSE|tCc/tAc|S151Y|159|KRTAP9-8|protein_coding|CODING|ENST00000254072|exon_17_39394297_39395256 . . . 1/1:14:87,8,0 17 39432007 rs78283750 A C NON_SYNONYMOUS_CODING KRTAP9-7 MODERATE|MISSENSE|Aag/Cag|K20Q|169|KRTAP9-7|protein_coding|CODING|ENST00000391354|exon_17_39431911_39432949 1/1:21:54,12,0 . . . 17 39432017 rs4890107 C T NON_SYNONYMOUS_CODING KRTAP9-7 MODERATE|MISSENSE|aCt/aTt|T23I|169|KRTAP9-7|protein_coding|CODING|ENST00000391354|exon_17_39431911_39432949 1/1:39:91,21,0 . 1/1:33:91,18,0 . 17 39535305 rs61740668 G A NON_SYNONYMOUS_CODING KRT34 MODERATE|MISSENSE|Cgg/Tgg|R334W|394|KRT34|protein_coding|CODING|ENST00000394001|exon_17_39535208_39535428 . 0/1:99:127,0,204 . . 17 39535305 rs61740668 G A NON_SYNONYMOUS_CODING KRT34 MODERATE|MISSENSE|Cgg/Tgg|R376W|436|KRT34|protein_coding|CODING|ENST00000251648|exon_17_39535208_39535428 . 0/1:99:127,0,204 . . 17 39593722 rs56120541 C T NON_SYNONYMOUS_CODING KRT38 MODERATE|MISSENSE|gGc/gAc|G438D|456|KRT38|protein_coding|CODING|ENST00000246646|exon_17_39593529_39593793 . 0/1:99:168,0,224 . . 17 39661366 rs760134 G C NON_SYNONYMOUS_CODING KRT13 MODERATE|MISSENSE|gCt/gGt|A134G|355|KRT13|protein_coding|CODING|ENST00000157775|exon_17_39661308_39661579 . 0/1:99:154,0,176 . . 17 39661366 rs760134 G C NON_SYNONYMOUS_CODING KRT13 MODERATE|MISSENSE|gCt/gGt|A146G|420|KRT13|protein_coding|CODING|ENST00000336861|exon_17_39661308_39661849 . 0/1:99:154,0,176 . . 17 39661366 rs760134 G C NON_SYNONYMOUS_CODING KRT13 MODERATE|MISSENSE|gCt/gGt|A146G|458|KRT13|protein_coding|CODING|ENST00000246635|exon_17_39661308_39661849 . 0/1:99:154,0,176 . . 17 39742807 rs3826550 C T NON_SYNONYMOUS_CODING KRT14 MODERATE|MISSENSE|Gct/Act|A94T|472|KRT14|protein_coding|CODING|ENST00000167586|exon_17_39742562_39743173 . 1/1:99:255,54,0 0/1:99:145,0,250 1/1:83:255,43,0 17 40263400 rs35118457 C T NON_SYNONYMOUS_CODING DHX58 MODERATE|MISSENSE|cGg/cAg|R95Q|155|DHX58|protein_coding|CODING|ENST00000430773|exon_17_40263314_40263515 . . . 0/1:99:129,0,157 17 40263400 rs35118457 C T NON_SYNONYMOUS_CODING DHX58 MODERATE|MISSENSE|cGg/cAg|R95Q|301|DHX58|protein_coding|CODING|ENST00000413196|exon_17_40263314_40263515 . . . 0/1:99:129,0,157 17 40263400 rs35118457 C T NON_SYNONYMOUS_CODING DHX58 MODERATE|MISSENSE|cGg/cAg|R95Q|487|DHX58|protein_coding|CODING|ENST00000423748|exon_17_40263400_40263515 . . . 0/1:99:129,0,157 17 40263400 rs35118457 C T NON_SYNONYMOUS_CODING DHX58 MODERATE|MISSENSE|cGg/cAg|R95Q|678|DHX58|protein_coding|CODING|ENST00000251642|exon_17_40263314_40263515 . . . 0/1:99:129,0,157 17 40266059 rs140668712 G A NON_SYNONYMOUS_CODING KAT2A MODERATE|MISSENSE|tCg/tTg|S760L|837|KAT2A|protein_coding|CODING|ENST00000225916|exon_17_40266018_40266102 0/1:99:206,0,255 . . . 17 40344516 rs144632542 A G NON_SYNONYMOUS_CODING GHDC MODERATE|MISSENSE|tTg/tCg|L155S|474|GHDC|protein_coding|CODING|ENST00000393854|exon_17_40344259_40344760 . 0/1:99:244,0,252 . . 17 40344516 rs144632542 A G NON_SYNONYMOUS_CODING GHDC MODERATE|MISSENSE|tTg/tCg|L172S|491|GHDC|protein_coding|CODING|ENST00000428494|exon_17_40344259_40344727 . 0/1:99:244,0,252 . . 17 40344516 rs144632542 A G NON_SYNONYMOUS_CODING GHDC MODERATE|MISSENSE|tTg/tCg|L211S|474|GHDC|protein_coding|CODING|ENST00000414034|exon_17_40344259_40344760 . 0/1:99:244,0,252 . . 17 40344516 rs144632542 A G NON_SYNONYMOUS_CODING GHDC MODERATE|MISSENSE|tTg/tCg|L211S|474|GHDC|protein_coding|CODING|ENST00000436923|exon_17_40344259_40344760 . 0/1:99:244,0,252 . . 17 40344516 rs144632542 A G NON_SYNONYMOUS_CODING GHDC MODERATE|MISSENSE|tTg/tCg|L211S|530|GHDC|protein_coding|CODING|ENST00000301671|exon_17_40344259_40344760 . 0/1:99:244,0,252 . . 17 40556955 rs146799286 T C NON_SYNONYMOUS_CODING PTRF MODERATE|MISSENSE|tAc/tGc|Y263C|345|PTRF|protein_coding|CODING|ENST00000357684|exon_17_40556553_40557406 . 0/1:99:130,0,112 . . 17 40556955 rs146799286 T C NON_SYNONYMOUS_CODING PTRF MODERATE|MISSENSE|tAc/tGc|Y308C|390|PTRF|protein_coding|CODING|ENST00000357037|exon_17_40554468_40557406 . 0/1:99:130,0,112 . . 17 40841014 rs137982413 G A NON_SYNONYMOUS_CODING CNTNAP1 MODERATE|MISSENSE|cGg/cAg|R526Q|1384|CNTNAP1|protein_coding|CODING|ENST00000264638|exon_17_40840894_40841065 . . 0/1:99:243,0,246 . 17 41131645 rs35444712 C A NON_SYNONYMOUS_CODING AARSD1 MODERATE|MISSENSE|aGg/aTg|R58M|166|AARSD1|protein_coding|CODING|ENST00000453594|exon_17_41131567_41131680 . 0/1:99:255,0,247 . . 17 41131645 rs35444712 C A NON_SYNONYMOUS_CODING AARSD1 MODERATE|MISSENSE|aGg/aTg|R58M|586|AARSD1|protein_coding|CODING|ENST00000409399|exon_17_41131567_41131680 . 0/1:99:255,0,247 . . 17 41131645 rs35444712 C A NON_SYNONYMOUS_CODING AARSD1 MODERATE|MISSENSE|aGg/aTg|R58M|586|AARSD1|protein_coding|CODING|ENST00000421990|exon_17_41131567_41131680 . 0/1:99:255,0,247 . . 17 41131645 rs35444712 C A NON_SYNONYMOUS_CODING AARSD1 MODERATE|MISSENSE|aGg/aTg|R58M|73|AARSD1|protein_coding|CODING|ENST00000451885|exon_17_41131595_41131680 . 0/1:99:255,0,247 . . 17 41165154 rs139469566 C T NON_SYNONYMOUS_CODING IFI35 MODERATE|MISSENSE|Cgg/Tgg|R71W|286|IFI35|protein_coding|CODING|ENST00000415816|exon_17_41165064_41165211 . . 0/1:99:194,0,255 . 17 41165154 rs139469566 C T NON_SYNONYMOUS_CODING IFI35 MODERATE|MISSENSE|Cgg/Tgg|R71W|288|IFI35|protein_coding|CODING|ENST00000438323|exon_17_41165064_41165211 . . 0/1:99:194,0,255 . 17 41245471 rs4986850 C T NON_SYNONYMOUS_CODING BRCA1 MODERATE|MISSENSE|Gac/Aac|D397N|1567|BRCA1|protein_coding|CODING|ENST00000309486|exon_17_41243452_41246877 . 0/1:99:255,0,255 . . 17 41245471 rs4986850 C T NON_SYNONYMOUS_CODING BRCA1 MODERATE|MISSENSE|Gac/Aac|D646N|1816|BRCA1|protein_coding|CODING|ENST00000493795|exon_17_41243452_41246877 . 0/1:99:255,0,255 . . 17 41245471 rs4986850 C T NON_SYNONYMOUS_CODING BRCA1 MODERATE|MISSENSE|Gac/Aac|D693N|1598|BRCA1|protein_coding|CODING|ENST00000354071|exon_17_41243452_41246877 . 0/1:99:255,0,255 . . 17 41245471 rs4986850 C T NON_SYNONYMOUS_CODING BRCA1 MODERATE|MISSENSE|Gac/Aac|D693N|1624|BRCA1|protein_coding|CODING|ENST00000346315|exon_17_41243452_41246877 . 0/1:99:255,0,255 . . 17 41245471 rs4986850 C T NON_SYNONYMOUS_CODING BRCA1 MODERATE|MISSENSE|Gac/Aac|D693N|1863|BRCA1|protein_coding|CODING|ENST00000357654|exon_17_41243452_41246877 . 0/1:99:255,0,255 . . 17 41245471 rs4986850 C T NON_SYNONYMOUS_CODING BRCA1 MODERATE|MISSENSE|Gac/Aac|D693N|1884|BRCA1|protein_coding|CODING|ENST00000412061|exon_17_41243452_41246877 . 0/1:99:255,0,255 . . 17 41245471 rs4986850 C T NON_SYNONYMOUS_CODING BRCA1 MODERATE|MISSENSE|Gac/Aac|D693N|1885|BRCA1|protein_coding|CODING|ENST00000471181|exon_17_41243452_41246877 . 0/1:99:255,0,255 . . 17 41568557 rs202079779 A C NON_SYNONYMOUS_CODING DHX8 MODERATE|MISSENSE|gAa/gCa|E111A|1181|DHX8|protein_coding|CODING|ENST00000540306|exon_17_41568533_41568618 0/1:99:255,0,218 . . . 17 41568557 rs202079779 A C NON_SYNONYMOUS_CODING DHX8 MODERATE|MISSENSE|gAa/gCa|E111A|1220|DHX8|protein_coding|CODING|ENST00000262415|exon_17_41568533_41568618 0/1:99:255,0,218 . . . 17 41610597 . G A NON_SYNONYMOUS_CODING ETV4 MODERATE|MISSENSE|aCc/aTc|T129I|445|ETV4|protein_coding|CODING|ENST00000538265|exon_17_41610555_41610716 0/1:99:217,0,184 . . . 17 41610597 . G A NON_SYNONYMOUS_CODING ETV4 MODERATE|MISSENSE|aCc/aTc|T129I|445|ETV4|protein_coding|CODING|ENST00000545954|exon_17_41610555_41610716 0/1:99:217,0,184 . . . 17 41610597 . G A NON_SYNONYMOUS_CODING ETV4 MODERATE|MISSENSE|aCc/aTc|T168I|484|ETV4|protein_coding|CODING|ENST00000319349|exon_17_41610555_41610716 0/1:99:217,0,184 . . . 17 41610597 . G A NON_SYNONYMOUS_CODING ETV4 MODERATE|MISSENSE|aCc/aTc|T168I|484|ETV4|protein_coding|CODING|ENST00000393664|exon_17_41610555_41610716 0/1:99:217,0,184 . . . 17 41901366 rs189143886 G T NON_SYNONYMOUS_CODING MPP3 MODERATE|MISSENSE|tCc/tAc|S206Y|585|MPP3|protein_coding|CODING|ENST00000398389|exon_17_41901299_41901373 0/1:99:162,0,255 . . . 17 41901366 rs189143886 G T NON_SYNONYMOUS_CODING MPP3 MODERATE|MISSENSE|tCc/tAc|S231Y|388|MPP3|protein_coding|CODING|ENST00000356492|exon_17_41901299_41901373 0/1:99:162,0,255 . . . 17 41901366 rs189143886 G T NON_SYNONYMOUS_CODING MPP3 MODERATE|MISSENSE|tCc/tAc|S231Y|610|MPP3|protein_coding|CODING|ENST00000398393|exon_17_41901299_41901373 0/1:99:162,0,255 . . . 17 42030525 . A G NON_SYNONYMOUS_CODING PYY MODERATE|MISSENSE|cTt/cCt|L74P|97|PYY|protein_coding|CODING|ENST00000360085|exon_17_42030477_42030557 . . . 0/1:99:254,0,124 17 42254298 rs141590219 C T NON_SYNONYMOUS_CODING C17orf65 MODERATE|MISSENSE|cGg/cAg|R108Q|193|C17orf65|protein_coding|CODING|ENST00000303061|exon_17_42253354_42255184 . 0/1:99:197,0,147 . . 17 42429500 rs63750412 C T NON_SYNONYMOUS_CODING GRN MODERATE|MISSENSE|Cgg/Tgg|R253W|413|GRN|protein_coding|CODING|ENST00000393566|exon_17_42429383_42429616 . . 0/1:99:171,0,203 . 17 42429500 rs63750412 C T NON_SYNONYMOUS_CODING GRN MODERATE|MISSENSE|Cgg/Tgg|R433W|593|GRN|protein_coding|CODING|ENST00000053867|exon_17_42429383_42429616 . . 0/1:99:171,0,203 . 17 42475962 rs936018 A C NON_SYNONYMOUS_CODING GPATCH8 MODERATE|MISSENSE|tgT/tgG|C1083W|1424|GPATCH8|protein_coding|CODING|ENST00000434000|exon_17_42474784_42478821 . . . 0/1:99:227,0,255 17 42475962 rs936018 A C NON_SYNONYMOUS_CODING GPATCH8 MODERATE|MISSENSE|tgT/tgG|C1161W|1502|GPATCH8|protein_coding|CODING|ENST00000335500|exon_17_42472652_42478821 . . . 0/1:99:227,0,255 17 42750898 rs192757598 A T NON_SYNONYMOUS_CODING C17orf104 MODERATE|MISSENSE|agA/agT|R874S|952|C17orf104|protein_coding|CODING|ENST00000409122|exon_17_42750734_42750914 . . 0/1:99:255,0,255 . 17 42987523 rs9908084 G A NON_SYNONYMOUS_CODING GFAP MODERATE|MISSENSE|aCg/aTg|T426M|431|GFAP|protein_coding|CODING|ENST00000435360|exon_17_42987043_42987628 . . . 0/1:99:167,0,155 17 42989063 rs1126642 C T NON_SYNONYMOUS_CODING GFAP MODERATE|MISSENSE|Gac/Aac|D270N|407|GFAP|protein_coding|CODING|ENST00000421021|exon_17_42989040_42989165 0/1:99:207,0,182 . 0/1:99:210,0,210 . 17 42989063 rs1126642 C T NON_SYNONYMOUS_CODING GFAP MODERATE|MISSENSE|Gac/Aac|D295N|431|GFAP|protein_coding|CODING|ENST00000435360|exon_17_42989040_42989165 0/1:99:207,0,182 . 0/1:99:210,0,210 . 17 42989063 rs1126642 C T NON_SYNONYMOUS_CODING GFAP MODERATE|MISSENSE|Gac/Aac|D295N|432|GFAP|protein_coding|CODING|ENST00000253408|exon_17_42989040_42989165 0/1:99:207,0,182 . 0/1:99:210,0,210 . 17 42991449 rs59291670 C T NON_SYNONYMOUS_CODING GFAP MODERATE|MISSENSE|Gat/Aat|D132N|407|GFAP|protein_coding|CODING|ENST00000421021|exon_17_42991396_42991456 . 0/1:99:224,0,255 . . 17 42991449 rs59291670 C T NON_SYNONYMOUS_CODING GFAP MODERATE|MISSENSE|Gat/Aat|D157N|431|GFAP|protein_coding|CODING|ENST00000435360|exon_17_42991396_42991456 . 0/1:99:224,0,255 . . 17 42991449 rs59291670 C T NON_SYNONYMOUS_CODING GFAP MODERATE|MISSENSE|Gat/Aat|D157N|432|GFAP|protein_coding|CODING|ENST00000253408|exon_17_42991396_42991456 . 0/1:99:224,0,255 . . 17 43004436 rs61739617 G A NON_SYNONYMOUS_CODING KIF18B MODERATE|MISSENSE|Ccc/Tcc|P766S|855|KIF18B|protein_coding|CODING|ENST00000339151|exon_17_43004357_43004446 . . . 0/1:99:190,0,121 17 43004436 rs61739617 G A NON_SYNONYMOUS_CODING KIF18B MODERATE|MISSENSE|Ccc/Tcc|P775S|833|KIF18B|protein_coding|CODING|ENST00000438933|exon_17_43004357_43004446 . . . 0/1:99:190,0,121 17 43004436 rs61739617 G A NON_SYNONYMOUS_CODING KIF18B MODERATE|MISSENSE|Ccc/Tcc|P775S|843|KIF18B|protein_coding|CODING|ENST00000376982|exon_17_43004357_43004446 . . . 0/1:99:190,0,121 17 43008970 rs17546822 T C NON_SYNONYMOUS_CODING KIF18B MODERATE|MISSENSE|cAg/cGg|Q518R|833|KIF18B|protein_coding|CODING|ENST00000438933|exon_17_43008970_43009097 . . . 0/1:99:255,0,250 17 43008970 rs17546822 T C NON_SYNONYMOUS_CODING KIF18B MODERATE|MISSENSE|cAg/cGg|Q518R|843|KIF18B|protein_coding|CODING|ENST00000376982|exon_17_43008970_43009097 . . . 0/1:99:255,0,250 17 43008970 rs17546822 T C NON_SYNONYMOUS_CODING KIF18B MODERATE|MISSENSE|cAg/cGg|Q518R|855|KIF18B|protein_coding|CODING|ENST00000339151|exon_17_43008970_43009097 . . . 0/1:99:255,0,250 17 43507297 rs12949256 C T NON_SYNONYMOUS_CODING ARHGAP27 MODERATE|MISSENSE|Gcc/Acc|A117T|263|ARHGAP27|protein_coding|CODING|ENST00000290470|exon_17_43506719_43507663 0/1:60:74,0,57 . . . 17 43507297 rs12949256 C T NON_SYNONYMOUS_CODING ARHGAP27 MODERATE|MISSENSE|Gcc/Acc|A117T|263|ARHGAP27|protein_coding|CODING|ENST00000528273|exon_17_43506718_43507663 0/1:60:74,0,57 . . . 17 43507297 rs12949256 C T NON_SYNONYMOUS_CODING ARHGAP27 MODERATE|MISSENSE|Gcc/Acc|A117T|862|ARHGAP27|protein_coding|CODING|ENST00000442348|exon_17_43506989_43507645 0/1:60:74,0,57 . . . 17 43507297 rs12949256 C T NON_SYNONYMOUS_CODING ARHGAP27 MODERATE|MISSENSE|Gcc/Acc|A117T|867|ARHGAP27|protein_coding|CODING|ENST00000532891|exon_17_43506989_43507663 0/1:60:74,0,57 . . . 17 43507297 rs12949256 C T NON_SYNONYMOUS_CODING ARHGAP27 MODERATE|MISSENSE|Gcc/Acc|A117T|889|ARHGAP27|protein_coding|CODING|ENST00000428638|exon_17_43506989_43507645 0/1:60:74,0,57 . . . 17 43513441 rs11012 C T NON_SYNONYMOUS_CODING PLEKHM1 MODERATE|MISSENSE|cGc/cAc|R957H|1000|PLEKHM1|protein_coding|CODING|ENST00000446609|exon_17_43513270_43513540 0/1:99:209,0,198 0/1:99:147,0,220 . . 17 43535724 rs140558219 T C NON_SYNONYMOUS_CODING PLEKHM1 MODERATE|MISSENSE|Ata/Gta|I375V|967|PLEKHM1|protein_coding|CODING|ENST00000421073|exon_17_43535535_43535805 . . 0/1:99:255,0,255 . 17 43535724 rs140558219 T C NON_SYNONYMOUS_CODING PLEKHM1 MODERATE|MISSENSE|Ata/Gta|I413V|1000|PLEKHM1|protein_coding|CODING|ENST00000446609|exon_17_43535535_43535805 . . 0/1:99:255,0,255 . 17 43535724 rs140558219 T C NON_SYNONYMOUS_CODING PLEKHM1 MODERATE|MISSENSE|Ata/Gta|I464V|1056|PLEKHM1|protein_coding|CODING|ENST00000430334|exon_17_43535535_43535805 . . 0/1:99:255,0,255 . 17 43611627 . T C NON_SYNONYMOUS_CODING AC091132.1 MODERATE|MISSENSE|aTg/aCg|M110T|110|AC091132.1|protein_coding|CODING|ENST00000253803|exon_17_43611566_43611631 . 0/1:67:64,0,109 . . 17 45214604 rs75661039 A T NON_SYNONYMOUS_CODING CDC27 MODERATE|MISSENSE|caT/caA|H548Q|763|CDC27|protein_coding|CODING|ENST00000446365|exon_17_45214518_45214726 . . . 0/1:66:63,0,255 17 45214604 rs75661039 A T NON_SYNONYMOUS_CODING CDC27 MODERATE|MISSENSE|caT/caA|H608Q|823|CDC27|protein_coding|CODING|ENST00000527547|exon_17_45214518_45214726 . . . 0/1:66:63,0,255 17 45214604 rs75661039 A T NON_SYNONYMOUS_CODING CDC27 MODERATE|MISSENSE|caT/caA|H609Q|824|CDC27|protein_coding|CODING|ENST00000066544|exon_17_45214518_45214726 . . . 0/1:66:63,0,255 17 45214604 rs75661039 A T NON_SYNONYMOUS_CODING CDC27 MODERATE|MISSENSE|caT/caA|H615Q|830|CDC27|protein_coding|CODING|ENST00000531206|exon_17_45214518_45214726 . . . 0/1:66:63,0,255 17 45214605 rs76926116 T C NON_SYNONYMOUS_CODING CDC27 MODERATE|MISSENSE|cAt/cGt|H548R|763|CDC27|protein_coding|CODING|ENST00000446365|exon_17_45214518_45214726 . . . 0/1:69:66,0,255 17 45214605 rs76926116 T C NON_SYNONYMOUS_CODING CDC27 MODERATE|MISSENSE|cAt/cGt|H608R|823|CDC27|protein_coding|CODING|ENST00000527547|exon_17_45214518_45214726 . . . 0/1:69:66,0,255 17 45214605 rs76926116 T C NON_SYNONYMOUS_CODING CDC27 MODERATE|MISSENSE|cAt/cGt|H609R|824|CDC27|protein_coding|CODING|ENST00000066544|exon_17_45214518_45214726 . . . 0/1:69:66,0,255 17 45214605 rs76926116 T C NON_SYNONYMOUS_CODING CDC27 MODERATE|MISSENSE|cAt/cGt|H615R|830|CDC27|protein_coding|CODING|ENST00000531206|exon_17_45214518_45214726 . . . 0/1:69:66,0,255 17 45234657 rs78108688 T C NON_SYNONYMOUS_CODING CDC27 MODERATE|MISSENSE|aAt/aGt|N129S|763|CDC27|protein_coding|CODING|ENST00000446365|exon_17_45234596_45234750 . 0/1:61:58,0,255 . . 17 45234657 rs78108688 T C NON_SYNONYMOUS_CODING CDC27 MODERATE|MISSENSE|aAt/aGt|N190S|343|CDC27|protein_coding|CODING|ENST00000526866|exon_17_45234596_45234750 . 0/1:61:58,0,255 . . 17 45234657 rs78108688 T C NON_SYNONYMOUS_CODING CDC27 MODERATE|MISSENSE|aAt/aGt|N190S|823|CDC27|protein_coding|CODING|ENST00000527547|exon_17_45234596_45234750 . 0/1:61:58,0,255 . . 17 45234657 rs78108688 T C NON_SYNONYMOUS_CODING CDC27 MODERATE|MISSENSE|aAt/aGt|N190S|824|CDC27|protein_coding|CODING|ENST00000066544|exon_17_45234596_45234750 . 0/1:61:58,0,255 . . 17 45234657 rs78108688 T C NON_SYNONYMOUS_CODING CDC27 MODERATE|MISSENSE|aAt/aGt|N190S|830|CDC27|protein_coding|CODING|ENST00000531206|exon_17_45234596_45234750 . 0/1:61:58,0,255 . . 17 45234707 rs75353677 T A NON_SYNONYMOUS_CODING CDC27 MODERATE|MISSENSE|ttA/ttT|L112F|763|CDC27|protein_coding|CODING|ENST00000446365|exon_17_45234596_45234750 . 0/1:71:68,0,255 . . 17 45234707 rs75353677 T A NON_SYNONYMOUS_CODING CDC27 MODERATE|MISSENSE|ttA/ttT|L173F|343|CDC27|protein_coding|CODING|ENST00000526866|exon_17_45234596_45234750 . 0/1:71:68,0,255 . . 17 45234707 rs75353677 T A NON_SYNONYMOUS_CODING CDC27 MODERATE|MISSENSE|ttA/ttT|L173F|823|CDC27|protein_coding|CODING|ENST00000527547|exon_17_45234596_45234750 . 0/1:71:68,0,255 . . 17 45234707 rs75353677 T A NON_SYNONYMOUS_CODING CDC27 MODERATE|MISSENSE|ttA/ttT|L173F|824|CDC27|protein_coding|CODING|ENST00000066544|exon_17_45234596_45234750 . 0/1:71:68,0,255 . . 17 45234707 rs75353677 T A NON_SYNONYMOUS_CODING CDC27 MODERATE|MISSENSE|ttA/ttT|L173F|830|CDC27|protein_coding|CODING|ENST00000531206|exon_17_45234596_45234750 . 0/1:71:68,0,255 . . 17 45299742 rs146859926 G A NON_SYNONYMOUS_CODING MYL4 MODERATE|MISSENSE|Gca/Aca|A69T|86|MYL4|protein_coding|CODING|ENST00000536623|exon_17_45299710_45299798 . 0/1:99:200,0,255 . . 17 45360730 rs5918 T C NON_SYNONYMOUS_CODING ITGB3 MODERATE|MISSENSE|cTg/cCg|L12P|751|ITGB3|protein_coding|CODING|ENST00000435993|exon_17_45360720_45360915 . . . 0/1:99:255,0,255 17 45360730 rs5918 T C NON_SYNONYMOUS_CODING ITGB3 MODERATE|MISSENSE|cTg/cCg|L59P|788|ITGB3|protein_coding|CODING|ENST00000262017|exon_17_45360720_45360915 . . . 0/1:99:255,0,255 17 45360730 rs5918 T C NON_SYNONYMOUS_CODING ITGB3 MODERATE|MISSENSE|cTg/cCg|L59P|788|ITGB3|protein_coding|CODING|ENST00000559488|exon_17_45360720_45360915 . . . 0/1:99:255,0,255 17 45447832 rs55853213 A G NON_SYNONYMOUS_CODING C17orf57 MODERATE|MISSENSE|Ata/Gta|I183V|784|C17orf57|protein_coding|CODING|ENST00000517484|exon_17_45447803_45447874 0/1:99:255,0,226 . . . 17 45447832 rs55853213 A G NON_SYNONYMOUS_CODING C17orf57 MODERATE|MISSENSE|Ata/Gta|I231V|531|C17orf57|protein_coding|CODING|ENST00000344176|exon_17_45447803_45447874 0/1:99:255,0,226 . . . 17 45447832 rs55853213 A G NON_SYNONYMOUS_CODING C17orf57 MODERATE|MISSENSE|Ata/Gta|I279V|973|C17orf57|protein_coding|CODING|ENST00000331493|exon_17_45447803_45447874 0/1:99:255,0,226 . . . 17 45810919 rs2240017 C G NON_SYNONYMOUS_CODING TBX21 MODERATE|MISSENSE|caC/caG|H33Q|535|TBX21|protein_coding|CODING|ENST00000177694|exon_17_45810610_45811311 1/1:39:191,21,0 . . . 17 45915766 rs34480825 T C NON_SYNONYMOUS_CODING SCRN2 MODERATE|MISSENSE|cAg/cGg|Q330R|378|SCRN2|protein_coding|CODING|ENST00000407215|exon_17_45915049_45915816 . 0/1:99:225,0,231 . . 17 45915766 rs34480825 T C NON_SYNONYMOUS_CODING SCRN2 MODERATE|MISSENSE|cAg/cGg|Q330R|425|SCRN2|protein_coding|CODING|ENST00000290216|exon_17_45915636_45915816 . 0/1:99:225,0,231 . . 17 45917605 rs17856536 T C NON_SYNONYMOUS_CODING SCRN2 MODERATE|MISSENSE|aAg/aGg|K103R|378|SCRN2|protein_coding|CODING|ENST00000407215|exon_17_45917557_45917738 . . 0/1:99:238,0,188 . 17 45917605 rs17856536 T C NON_SYNONYMOUS_CODING SCRN2 MODERATE|MISSENSE|aAg/aGg|K103R|425|SCRN2|protein_coding|CODING|ENST00000290216|exon_17_45917557_45917738 . . 0/1:99:238,0,188 . 17 46000557 . C T NON_SYNONYMOUS_CODING SP2 MODERATE|MISSENSE|gCg/gTg|A430V|613|SP2|protein_coding|CODING|ENST00000376741|exon_17_46000328_46000640 0/1:99:225,0,255 . . . 17 46022065 rs17679445 G A NON_SYNONYMOUS_CODING PNPO MODERATE|MISSENSE|cGa/cAa|R116Q|218|PNPO|protein_coding|CODING|ENST00000434554|exon_17_46021982_46022081 0/1:99:240,0,151 . . 0/1:99:190,0,187 17 46022065 rs17679445 G A NON_SYNONYMOUS_CODING PNPO MODERATE|MISSENSE|cGa/cAa|R116Q|243|PNPO|protein_coding|CODING|ENST00000544840|exon_17_46021982_46022081 0/1:99:240,0,151 . . 0/1:99:190,0,187 17 46022065 rs17679445 G A NON_SYNONYMOUS_CODING PNPO MODERATE|MISSENSE|cGa/cAa|R116Q|261|PNPO|protein_coding|CODING|ENST00000225573|exon_17_46021982_46022081 0/1:99:240,0,151 . . 0/1:99:190,0,187 17 46022065 rs17679445 G A NON_SYNONYMOUS_CODING PNPO MODERATE|MISSENSE|cGa/cAa|R21Q|166|PNPO|protein_coding|CODING|ENST00000534893|exon_17_46021982_46022081 0/1:99:240,0,151 . . 0/1:99:190,0,187 17 46050980 . G C NON_SYNONYMOUS_CODING CDK5RAP3 MODERATE|MISSENSE|Gag/Cag|E50Q|506|CDK5RAP3|protein_coding|CODING|ENST00000338399|exon_17_46050885_46051016 . . 0/1:99:255,0,245 . 17 46050980 . G C NON_SYNONYMOUS_CODING CDK5RAP3 MODERATE|MISSENSE|Gag/Cag|E75Q|531|CDK5RAP3|protein_coding|CODING|ENST00000536708|exon_17_46050885_46051016 . . 0/1:99:255,0,245 . 17 46052883 rs61741125 G A NON_SYNONYMOUS_CODING CDK5RAP3 MODERATE|MISSENSE|Gaa/Aaa|E173K|506|CDK5RAP3|protein_coding|CODING|ENST00000338399|exon_17_46052880_46053019 . . 0/1:99:255,0,189 . 17 46052883 rs61741125 G A NON_SYNONYMOUS_CODING CDK5RAP3 MODERATE|MISSENSE|Gaa/Aaa|E198K|531|CDK5RAP3|protein_coding|CODING|ENST00000536708|exon_17_46052880_46053019 . . 0/1:99:255,0,189 . 17 46115079 . C T NON_SYNONYMOUS_CODING COPZ2 MODERATE|MISSENSE|cGg/cAg|R20Q|208|COPZ2|protein_coding|CODING|ENST00000006101|exon_17_46115033_46115122 . . . 0/1:55:53,0,59 17 46607958 rs12939811 T A NON_SYNONYMOUS_CODING HOXB1 MODERATE|MISSENSE|caA/caT|Q103H|301|HOXB1|protein_coding|CODING|ENST00000239174|exon_17_46607690_46608359 . 0/1:99:134,0,255 0/1:99:133,0,255 0/1:99:220,0,212 17 46608184 . GGGGCGCTGTGGGCGCTGT GGGGCGCTGTGGGCGCTGTGGGCGCTGT CODON_INSERTION HOXB1 MODERATE||-/ACAGCGCCC|-22TAP|301|HOXB1|protein_coding|CODING|ENST00000239174|exon_17_46607690_46608359 . 0/1:99:168,0,255 0/1:99:125,0,255 0/1:99:151,0,115 17 46877063 rs61739953 G A NON_SYNONYMOUS_CODING TTLL6 MODERATE|MISSENSE|cCg/cTg|P176L|843|TTLL6|protein_coding|CODING|ENST00000393382|exon_17_46876966_46877122 . . . 0/1:99:207,0,255 17 46877063 rs61739953 G A NON_SYNONYMOUS_CODING TTLL6 MODERATE|MISSENSE|cCg/cTg|P224L|891|TTLL6|protein_coding|CODING|ENST00000440941|exon_17_46876966_46877122 . . . 0/1:99:207,0,255 17 46926615 rs550510 G A NON_SYNONYMOUS_CODING CALCOCO2 MODERATE|MISSENSE|gGa/gAa|G112E|167|CALCOCO2|protein_coding|CODING|ENST00000509415|exon_17_46926614_46926739 0/1:99:255,0,183 . . . 17 46926615 rs550510 G A NON_SYNONYMOUS_CODING CALCOCO2 MODERATE|MISSENSE|gGa/gAa|G140E|192|CALCOCO2|protein_coding|CODING|ENST00000502761|exon_17_46926614_46926739 0/1:99:255,0,183 . . . 17 46926615 rs550510 G A NON_SYNONYMOUS_CODING CALCOCO2 MODERATE|MISSENSE|gGa/gAa|G140E|446|CALCOCO2|protein_coding|CODING|ENST00000258947|exon_17_46926614_46926739 0/1:99:255,0,183 . . . 17 46926615 rs550510 G A NON_SYNONYMOUS_CODING CALCOCO2 MODERATE|MISSENSE|gGa/gAa|G149E|153|CALCOCO2|protein_coding|CODING|ENST00000505071|exon_17_46926614_46926631 0/1:99:255,0,183 . . . 17 46926615 rs550510 G A NON_SYNONYMOUS_CODING CALCOCO2 MODERATE|MISSENSE|gGa/gAa|G161E|467|CALCOCO2|protein_coding|CODING|ENST00000509507|exon_17_46926614_46926739 0/1:99:255,0,183 . . . 17 46926615 rs550510 G A NON_SYNONYMOUS_CODING CALCOCO2 MODERATE|MISSENSE|gGa/gAa|G164E|470|CALCOCO2|protein_coding|CODING|ENST00000448105|exon_17_46926614_46926739 0/1:99:255,0,183 . . . 17 46926615 rs550510 G A NON_SYNONYMOUS_CODING CALCOCO2 MODERATE|MISSENSE|gGa/gAa|G68E|258|CALCOCO2|protein_coding|CODING|ENST00000513119|exon_17_46926614_46926739 0/1:99:255,0,183 . . . 17 46926615 rs550510 G A NON_SYNONYMOUS_CODING CALCOCO2 MODERATE|MISSENSE|gGa/gAa|G68E|374|CALCOCO2|protein_coding|CODING|ENST00000508679|exon_17_46926614_46926739 0/1:99:255,0,183 . . . 17 46929908 rs2303015 T C NON_SYNONYMOUS_CODING CALCOCO2 MODERATE|MISSENSE|gTt/gCt|V176A|258|CALCOCO2|protein_coding|CODING|ENST00000513119|exon_17_46929868_46929990 . . . 0/1:99:255,0,255 17 46929908 rs2303015 T C NON_SYNONYMOUS_CODING CALCOCO2 MODERATE|MISSENSE|gTt/gCt|V176A|374|CALCOCO2|protein_coding|CODING|ENST00000508679|exon_17_46929868_46929990 . . . 0/1:99:255,0,255 17 46929908 rs2303015 T C NON_SYNONYMOUS_CODING CALCOCO2 MODERATE|MISSENSE|gTt/gCt|V206A|404|CALCOCO2|protein_coding|CODING|ENST00000416445|exon_17_46929868_46929990 . . . 0/1:99:255,0,255 17 46929908 rs2303015 T C NON_SYNONYMOUS_CODING CALCOCO2 MODERATE|MISSENSE|gTt/gCt|V248A|446|CALCOCO2|protein_coding|CODING|ENST00000258947|exon_17_46929868_46929990 . . . 0/1:99:255,0,255 17 46929908 rs2303015 T C NON_SYNONYMOUS_CODING CALCOCO2 MODERATE|MISSENSE|gTt/gCt|V269A|467|CALCOCO2|protein_coding|CODING|ENST00000509507|exon_17_46929868_46929990 . . . 0/1:99:255,0,255 17 46929908 rs2303015 T C NON_SYNONYMOUS_CODING CALCOCO2 MODERATE|MISSENSE|gTt/gCt|V272A|470|CALCOCO2|protein_coding|CODING|ENST00000448105|exon_17_46929868_46929990 . . . 0/1:99:255,0,255 17 47011930 . C G NON_SYNONYMOUS_CODING SNF8 MODERATE|MISSENSE|cGc/cCc|R144P|165|SNF8|protein_coding|CODING|ENST00000510558|exon_17_47011861_47011938 0/1:99:137,0,252 . . . 17 47117430 rs61751193 T A NON_SYNONYMOUS_CODING IGF2BP1 MODERATE|MISSENSE|caT/caA|H265Q|577|IGF2BP1|protein_coding|CODING|ENST00000290341|exon_17_47117319_47117453 . . 0/1:99:204,0,203 . 17 48431021 rs113835371 G A NON_SYNONYMOUS_CODING XYLT2 MODERATE|MISSENSE|Gac/Aac|D41N|44|XYLT2|protein_coding|CODING|ENST00000509778|exon_17_48430991_48431035 . . 0/1:99:236,0,255 0/1:99:170,0,203 17 48431021 rs113835371 G A NON_SYNONYMOUS_CODING XYLT2 MODERATE|MISSENSE|Gac/Aac|D56N|676|XYLT2|protein_coding|CODING|ENST00000507602|exon_17_48430991_48431483 . . 0/1:99:236,0,255 0/1:99:170,0,203 17 48431021 rs113835371 G A NON_SYNONYMOUS_CODING XYLT2 MODERATE|MISSENSE|Gac/Aac|D56N|865|XYLT2|protein_coding|CODING|ENST00000017003|exon_17_48430991_48431483 . . 0/1:99:236,0,255 0/1:99:170,0,203 17 48452979 . AGCC AGCCGCC CODON_CHANGE_PLUS_CODON_INSERTION EME1 MODERATE||ccc/ccGCCc|P138PP|570|EME1|protein_coding|CODING|ENST00000338165|exon_17_48452546_48453344 . 0/1:11:255,0,8 . . 17 48452979 . AGCC AGCCGCC CODON_CHANGE_PLUS_CODON_INSERTION EME1 MODERATE||ccc/ccGCCc|P138PP|583|EME1|protein_coding|CODING|ENST00000393271|exon_17_48452546_48453344 . 0/1:11:255,0,8 . . 17 48452979 . AGCC AGCCGCC CODON_CHANGE_PLUS_CODON_INSERTION EME1 MODERATE||ccc/ccGCCc|P138PP|583|EME1|protein_coding|CODING|ENST00000511648|exon_17_48452546_48453344 . 0/1:11:255,0,8 . . 17 48604679 rs61754788 G C NON_SYNONYMOUS_CODING MYCBPAP MODERATE|MISSENSE|aGa/aCa|R740T|942|MYCBPAP|protein_coding|CODING|ENST00000436259|exon_17_48604648_48604769 . . . 0/1:99:205,0,147 17 48604679 rs61754788 G C NON_SYNONYMOUS_CODING MYCBPAP MODERATE|MISSENSE|aGa/aCa|R777T|984|MYCBPAP|protein_coding|CODING|ENST00000323776|exon_17_48604648_48604769 . . . 0/1:99:205,0,147 17 48823124 rs146274793 G C NON_SYNONYMOUS_CODING LUC7L3 MODERATE|MISSENSE|cGt/cCt|R170P|356|LUC7L3|protein_coding|CODING|ENST00000544170|exon_17_48823081_48823364 . . . 0/1:99:255,0,255 17 48823124 rs146274793 G C NON_SYNONYMOUS_CODING LUC7L3 MODERATE|MISSENSE|cGt/cCt|R246P|432|LUC7L3|protein_coding|CODING|ENST00000240304|exon_17_48823081_48823364 . . . 0/1:99:255,0,255 17 48823124 rs146274793 G C NON_SYNONYMOUS_CODING LUC7L3 MODERATE|MISSENSE|cGt/cCt|R246P|432|LUC7L3|protein_coding|CODING|ENST00000505658|exon_17_48823081_48823364 . . . 0/1:99:255,0,255 17 48823124 rs146274793 G C NON_SYNONYMOUS_CODING LUC7L3 MODERATE|MISSENSE|cGt/cCt|R246P|489|LUC7L3|protein_coding|CODING|ENST00000393227|exon_17_48823081_48823364 . . . 0/1:99:255,0,255 17 51900780 rs117796484 A G NON_SYNONYMOUS_CODING KIF2B MODERATE|MISSENSE|gAc/gGc|D129G|673|KIF2B|protein_coding|CODING|ENST00000268919|exon_17_51900239_51902573 . . . 0/1:99:255,0,224 17 51900780 rs117796484 A G NON_SYNONYMOUS_CODING KIF2B MODERATE|MISSENSE|gAc/gGc|D52G|561|KIF2B|protein_coding|CODING|ENST00000416491|exon_17_51900671_51901090 . . . 0/1:99:255,0,224 17 51900836 rs59657238 C T NON_SYNONYMOUS_CODING KIF2B MODERATE|MISSENSE|Ccc/Tcc|P148S|673|KIF2B|protein_coding|CODING|ENST00000268919|exon_17_51900239_51902573 0/1:99:223,0,225 . . . 17 51900836 rs59657238 C T NON_SYNONYMOUS_CODING KIF2B MODERATE|MISSENSE|Ccc/Tcc|P71S|561|KIF2B|protein_coding|CODING|ENST00000416491|exon_17_51900671_51901090 0/1:99:223,0,225 . . . 17 53798034 . A G NON_SYNONYMOUS_CODING TMEM100 MODERATE|MISSENSE|tTt/tCt|F133S|134|TMEM100|protein_coding|CODING|ENST00000299377|exon_17_53796990_53798496 . . 0/1:99:255,0,218 . 17 53798034 . A G NON_SYNONYMOUS_CODING TMEM100 MODERATE|MISSENSE|tTt/tCt|F133S|134|TMEM100|protein_coding|CODING|ENST00000424486|exon_17_53796990_53798496 . . 0/1:99:255,0,218 . 17 55028170 rs61731978 C T NON_SYNONYMOUS_CODING COIL MODERATE|MISSENSE|Gtc/Atc|V145I|576|COIL|protein_coding|CODING|ENST00000240316|exon_17_55027250_55028357 0/1:99:234,0,226 . 0/1:99:255,0,195 . 17 55163827 rs72843416 C T NON_SYNONYMOUS_CODING AKAP1 MODERATE|MISSENSE|tCt/tTt|S11F|945|AKAP1|protein_coding|CODING|ENST00000427138|exon_17_55163734_55163898 . 0/1:99:255,0,179 0/1:99:192,0,245 . 17 55182878 rs17761023 C T NON_SYNONYMOUS_CODING AKAP1 MODERATE|MISSENSE|gCg/gTg|A18V|593|AKAP1|protein_coding|CODING|ENST00000314126|exon_17_55182802_55184539 . 0/1:99:190,0,246 0/1:99:220,0,183 . 17 55182878 rs17761023 C T NON_SYNONYMOUS_CODING AKAP1 MODERATE|MISSENSE|gCg/gTg|A18V|903|AKAP1|protein_coding|CODING|ENST00000337714|exon_17_55182802_55184539 . 0/1:99:190,0,246 0/1:99:220,0,183 . 17 55182878 rs17761023 C T NON_SYNONYMOUS_CODING AKAP1 MODERATE|MISSENSE|gCg/gTg|A18V|903|AKAP1|protein_coding|CODING|ENST00000539273|exon_17_55182802_55184539 . 0/1:99:190,0,246 0/1:99:220,0,183 . 17 55182878 rs17761023 C T NON_SYNONYMOUS_CODING AKAP1 MODERATE|MISSENSE|gCg/gTg|A60V|945|AKAP1|protein_coding|CODING|ENST00000427138|exon_17_55182814_55184539 . 0/1:99:190,0,246 0/1:99:220,0,183 . 17 55183792 rs35359994 G A NON_SYNONYMOUS_CODING AKAP1 MODERATE|MISSENSE|Ggc/Agc|G323S|593|AKAP1|protein_coding|CODING|ENST00000314126|exon_17_55182802_55184539 . 0/1:99:226,0,232 0/1:99:161,0,255 . 17 55183792 rs35359994 G A NON_SYNONYMOUS_CODING AKAP1 MODERATE|MISSENSE|Ggc/Agc|G323S|903|AKAP1|protein_coding|CODING|ENST00000337714|exon_17_55182802_55184539 . 0/1:99:226,0,232 0/1:99:161,0,255 . 17 55183792 rs35359994 G A NON_SYNONYMOUS_CODING AKAP1 MODERATE|MISSENSE|Ggc/Agc|G323S|903|AKAP1|protein_coding|CODING|ENST00000539273|exon_17_55182802_55184539 . 0/1:99:226,0,232 0/1:99:161,0,255 . 17 55183792 rs35359994 G A NON_SYNONYMOUS_CODING AKAP1 MODERATE|MISSENSE|Ggc/Agc|G365S|945|AKAP1|protein_coding|CODING|ENST00000427138|exon_17_55182814_55184539 . 0/1:99:226,0,232 0/1:99:161,0,255 . 17 55183813 rs34535433 A G NON_SYNONYMOUS_CODING AKAP1 MODERATE|MISSENSE|Agc/Ggc|S330G|593|AKAP1|protein_coding|CODING|ENST00000314126|exon_17_55182802_55184539 . 0/1:99:231,0,245 0/1:99:162,0,255 . 17 55183813 rs34535433 A G NON_SYNONYMOUS_CODING AKAP1 MODERATE|MISSENSE|Agc/Ggc|S330G|903|AKAP1|protein_coding|CODING|ENST00000337714|exon_17_55182802_55184539 . 0/1:99:231,0,245 0/1:99:162,0,255 . 17 55183813 rs34535433 A G NON_SYNONYMOUS_CODING AKAP1 MODERATE|MISSENSE|Agc/Ggc|S330G|903|AKAP1|protein_coding|CODING|ENST00000539273|exon_17_55182802_55184539 . 0/1:99:231,0,245 0/1:99:162,0,255 . 17 55183813 rs34535433 A G NON_SYNONYMOUS_CODING AKAP1 MODERATE|MISSENSE|Agc/Ggc|S372G|945|AKAP1|protein_coding|CODING|ENST00000427138|exon_17_55182814_55184539 . 0/1:99:231,0,245 0/1:99:162,0,255 . 17 56164573 . A G NON_SYNONYMOUS_CODING DYNLL2 MODERATE|MISSENSE|tAt/tGt|Y41C|89|DYNLL2|protein_coding|CODING|ENST00000240343|exon_17_56164443_56164583 . 0/1:99:254,0,255 . . 17 56232675 rs12602205 G A NON_SYNONYMOUS_CODING OR4D1 MODERATE|MISSENSE|cGg/cAg|R54Q|310|OR4D1|protein_coding|CODING|ENST00000268912|exon_17_56232494_56233517 . . 0/1:99:118,0,255 . 17 56270438 rs139322566 G A NON_SYNONYMOUS_CODING EPX MODERATE|MISSENSE|tGc/tAc|C39Y|715|EPX|protein_coding|CODING|ENST00000225371|exon_17_56270399_56270492 0/1:99:102,0,255 . . . 17 56280447 rs2302311 A T NON_SYNONYMOUS_CODING EPX MODERATE|MISSENSE|Aat/Tat|N572Y|715|EPX|protein_coding|CODING|ENST00000225371|exon_17_56280442_56280679 . . . 0/1:99:255,0,168 17 56351017 rs149133270 C T NON_SYNONYMOUS_CODING MPO MODERATE|MISSENSE|cGg/cAg|R460Q|745|MPO|protein_coding|CODING|ENST00000225275|exon_17_56350775_56351030 . . . 0/1:99:255,0,246 17 56351017 rs149133270 C T NON_SYNONYMOUS_CODING MPO MODERATE|MISSENSE|cGg/cAg|R492Q|777|MPO|protein_coding|CODING|ENST00000340482|exon_17_56350775_56351030 . . . 0/1:99:255,0,246 17 56438301 rs2680701 G A NON_SYNONYMOUS_CODING RNF43 MODERATE|MISSENSE|cCg/cTg|P190L|742|RNF43|protein_coding|CODING|ENST00000500597|exon_17_56438144_56438305 . 0/1:99:196,0,176 0/1:99:255,0,255 . 17 56438301 rs2680701 G A NON_SYNONYMOUS_CODING RNF43 MODERATE|MISSENSE|cCg/cTg|P231L|783|RNF43|protein_coding|CODING|ENST00000407977|exon_17_56438144_56438305 . 0/1:99:196,0,176 0/1:99:255,0,255 . 17 56604215 rs142115192 G A NON_SYNONYMOUS_CODING SEPT4 MODERATE|MISSENSE|cCg/cTg|P43L|274|SEPT4|protein_coding|CODING|ENST00000426861|exon_17_56604043_56604339 0/1:99:255,0,181 . . . 17 56604215 rs142115192 G A NON_SYNONYMOUS_CODING SEPT4 MODERATE|MISSENSE|cCg/cTg|P43L|459|SEPT4|protein_coding|CODING|ENST00000317256|exon_17_56604043_56604339 0/1:99:255,0,181 . . . 17 56604215 rs142115192 G A NON_SYNONYMOUS_CODING SEPT4 MODERATE|MISSENSE|cCg/cTg|P43L|459|SEPT4|protein_coding|CODING|ENST00000393086|exon_17_56604043_56604339 0/1:99:255,0,181 . . . 17 56604215 rs142115192 G A NON_SYNONYMOUS_CODING SEPT4 MODERATE|MISSENSE|cCg/cTg|P54L|470|SEPT4|protein_coding|CODING|ENST00000412945|exon_17_56604043_56604339 0/1:99:255,0,181 . . . 17 56604215 rs142115192 G A NON_SYNONYMOUS_CODING SEPT4 MODERATE|MISSENSE|cCg/cTg|P62L|478|SEPT4|protein_coding|CODING|ENST00000317268|exon_17_56604043_56604339 0/1:99:255,0,181 . . . 17 56604215 rs142115192 G A NON_SYNONYMOUS_CODING SEPT4 MODERATE|MISSENSE|cCg/cTg|P76L|492|SEPT4|protein_coding|CODING|ENST00000457347|exon_17_56604043_56604339 0/1:99:255,0,181 . . . 17 56676368 rs389389 T C NON_SYNONYMOUS_CODING TEX14 MODERATE|MISSENSE|Aat/Gat|N780D|1451|TEX14|protein_coding|CODING|ENST00000349033|exon_17_56676237_56677027 . 0/1:99:252,0,255 0/1:99:255,0,232 . 17 56676368 rs389389 T C NON_SYNONYMOUS_CODING TEX14 MODERATE|MISSENSE|Aat/Gat|N780D|1491|TEX14|protein_coding|CODING|ENST00000389934|exon_17_56676237_56677027 . 0/1:99:252,0,255 0/1:99:255,0,232 . 17 56676368 rs389389 T C NON_SYNONYMOUS_CODING TEX14 MODERATE|MISSENSE|Aat/Gat|N786D|1497|TEX14|protein_coding|CODING|ENST00000240361|exon_17_56676237_56677027 . 0/1:99:252,0,255 0/1:99:255,0,232 . 17 56787304 rs147241704 G A NON_SYNONYMOUS_CODING RAD51C MODERATE|MISSENSE|Ggc/Agc|G264S|376|RAD51C|protein_coding|CODING|ENST00000337432|exon_17_56787220_56787351 . 0/1:99:255,0,230 . . 17 58288421 rs146577219 C T NON_SYNONYMOUS_CODING USP32 MODERATE|MISSENSE|Gaa/Aaa|E793K|1604|USP32|protein_coding|CODING|ENST00000300896|exon_17_58288374_58288479 . . 0/1:62:59,0,255 . 17 58342828 rs143667322 T C NON_SYNONYMOUS_CODING USP32 MODERATE|MISSENSE|cAt/cGt|H312R|1604|USP32|protein_coding|CODING|ENST00000300896|exon_17_58342773_58342835 . . . 0/1:99:255,0,255 17 58342828 rs143667322 T C NON_SYNONYMOUS_CODING USP32 MODERATE|MISSENSE|cAt/cGt|H312R|390|USP32|protein_coding|CODING|ENST00000393003|exon_17_58342773_58342835 . . . 0/1:99:255,0,255 17 58969070 rs78676245 A G NON_SYNONYMOUS_CODING BCAS3 MODERATE|MISSENSE|tAt/tGt|Y48C|458|BCAS3|protein_coding|CODING|ENST00000360207|exon_17_58969066_58969074 . . . 0/1:99:255,0,255 17 59489707 rs77617620 C T NON_SYNONYMOUS_CODING C17orf82 MODERATE|MISSENSE|gCa/gTa|A124V|251|C17orf82|protein_coding|CODING|ENST00000335108|exon_17_59489112_59490641 . 0/1:99:228,0,200 . . 17 60069978 rs78309726 T C NON_SYNONYMOUS_CODING MED13 MODERATE|MISSENSE|gAa/gGa|E728G|2173|MED13|protein_coding|CODING|ENST00000262436|exon_17_60069901_60069982 0/1:99:233,0,255 . . . 17 60069978 rs78309726 T C NON_SYNONYMOUS_CODING MED13 MODERATE|MISSENSE|gAa/gGa|E729G|2174|MED13|protein_coding|CODING|ENST00000397786|exon_17_60069901_60069982 0/1:99:233,0,255 . . . 17 60351433 rs200110677 C A NON_SYNONYMOUS_CODING AC053481.1 MODERATE|MISSENSE|cGa/cTa|R15L|159|AC053481.1|protein_coding|CODING|ENST00000339120|exon_17_60351405_60351477 . . 1/1:57:216,30,0 0/1:82:79,0,118 17 60744831 rs146172137 A C NON_SYNONYMOUS_CODING MRC2 MODERATE|MISSENSE|Agc/Cgc|S352R|1479|MRC2|protein_coding|CODING|ENST00000303375|exon_17_60744751_60744894 . . . 0/1:99:150,0,255 17 61949599 rs200275274 C T NON_SYNONYMOUS_CODING CSH2 MODERATE|MISSENSE|Gca/Aca|A124T|160|CSH2|protein_coding|CODING|ENST00000560142|exon_17_61949372_61949683 0/1:99:255,0,230 . . . 17 61949599 rs200275274 C T NON_SYNONYMOUS_CODING CSH2 MODERATE|MISSENSE|Gca/Aca|A181T|217|CSH2|protein_coding|CODING|ENST00000392886|exon_17_61949372_61949683 0/1:99:255,0,230 . . . 17 61949599 rs200275274 C T NON_SYNONYMOUS_CODING CSH2 MODERATE|MISSENSE|Gca/Aca|A86T|122|CSH2|protein_coding|CODING|ENST00000345366|exon_17_61949410_61949683 0/1:99:255,0,230 . . . 17 61995836 . C G NON_SYNONYMOUS_CODING GH1 MODERATE|MISSENSE|gGc/gCc|G14A|122|GH1|protein_coding|CODING|ENST00000342364|exon_17_61995706_61995866 . . . 0/1:99:105,0,253 17 61995836 . C G NON_SYNONYMOUS_CODING GH1 MODERATE|MISSENSE|gGc/gCc|G14A|177|GH1|protein_coding|CODING|ENST00000351388|exon_17_61995706_61995866 . . . 0/1:99:105,0,253 17 61995836 . C G NON_SYNONYMOUS_CODING GH1 MODERATE|MISSENSE|gGc/gCc|G14A|202|GH1|protein_coding|CODING|ENST00000458650|exon_17_61995706_61995866 . . . 0/1:99:105,0,253 17 61995836 . C G NON_SYNONYMOUS_CODING GH1 MODERATE|MISSENSE|gGc/gCc|G14A|217|GH1|protein_coding|CODING|ENST00000323322|exon_17_61995706_61995866 . . . 0/1:99:105,0,253 17 62133124 . G A NON_SYNONYMOUS_CODING ERN1 MODERATE|MISSENSE|aCg/aTg|T528M|977|ERN1|protein_coding|CODING|ENST00000433197|exon_17_62133035_62133308 . 0/1:99:206,0,198 . . 17 62492785 . G C NON_SYNONYMOUS_CODING POLG2 MODERATE|MISSENSE|cCc/cGc|P101R|485|POLG2|protein_coding|CODING|ENST00000539111|exon_17_62492525_62493184 . . . 0/1:99:170,0,243 17 62512868 . C T NON_SYNONYMOUS_CODING CEP95 MODERATE|MISSENSE|tCt/tTt|S132F|821|CEP95|protein_coding|CODING|ENST00000556440|exon_17_62512841_62512946 . . . 0/1:99:255,0,255 17 62950501 rs141124792 T A NON_SYNONYMOUS_CODING AC037487.1 MODERATE|MISSENSE|aTt/aAt|I87N|206|AC037487.1|protein_coding|CODING|ENST00000413214|exon_17_62950242_62950611 0/1:99:205,0,255 . 0/1:99:182,0,241 . 17 62952573 . G A NON_SYNONYMOUS_CODING AC037487.1 MODERATE|MISSENSE|cGt/cAt|R176H|206|AC037487.1|protein_coding|CODING|ENST00000413214|exon_17_62952417_62952716 . 0/1:62:59,0,141 . . 17 63530150 rs117688560 C T NON_SYNONYMOUS_CODING AXIN2 MODERATE|MISSENSE|aGt/aAt|S697N|778|AXIN2|protein_coding|CODING|ENST00000375702|exon_17_63530030_63530197 0/1:99:255,0,246 . . . 17 63530150 rs117688560 C T NON_SYNONYMOUS_CODING AXIN2 MODERATE|MISSENSE|aGt/aAt|S762N|843|AXIN2|protein_coding|CODING|ENST00000307078|exon_17_63530030_63530197 0/1:99:255,0,246 . . . 17 64208285 rs1801690 C G NON_SYNONYMOUS_CODING APOH MODERATE|MISSENSE|tGg/tCg|W335S|345|APOH|protein_coding|CODING|ENST00000205948|exon_17_64208148_64208306 0/1:99:176,0,255 . . . 17 64216815 rs8178847 C T NON_SYNONYMOUS_CODING APOH MODERATE|MISSENSE|cGt/cAt|R154H|345|APOH|protein_coding|CODING|ENST00000205948|exon_17_64216672_64216860 0/1:99:251,0,243 . . . 17 64216854 rs52797880 A G NON_SYNONYMOUS_CODING APOH MODERATE|MISSENSE|aTc/aCc|I141T|345|APOH|protein_coding|CODING|ENST00000205948|exon_17_64216672_64216860 0/1:99:157,0,255 . . . 17 65732800 . A G NON_SYNONYMOUS_CODING NOL11 MODERATE|MISSENSE|cAt/cGt|H176R|537|NOL11|protein_coding|CODING|ENST00000535137|exon_17_65732782_65732870 . . 0/1:99:255,0,255 . 17 65732800 . A G NON_SYNONYMOUS_CODING NOL11 MODERATE|MISSENSE|cAt/cGt|H358R|719|NOL11|protein_coding|CODING|ENST00000253247|exon_17_65732782_65732870 . . 0/1:99:255,0,255 . 17 65850469 rs200853934 G A NON_SYNONYMOUS_CODING BPTF MODERATE|MISSENSE|Gtt/Att|V204I|811|BPTF|protein_coding|CODING|ENST00000544778|exon_17_65850056_65850878 . . . 0/1:99:255,0,255 17 65850469 rs200853934 G A NON_SYNONYMOUS_CODING BPTF MODERATE|MISSENSE|Gtt/Att|V248I|822|BPTF|protein_coding|CODING|ENST00000544491|exon_17_65850056_65850878 . . . 0/1:99:255,0,255 17 65850469 rs200853934 G A NON_SYNONYMOUS_CODING BPTF MODERATE|MISSENSE|Gtt/Att|V343I|2903|BPTF|protein_coding|CODING|ENST00000335221|exon_17_65850056_65850878 . . . 0/1:99:255,0,255 17 65850469 rs200853934 G A NON_SYNONYMOUS_CODING BPTF MODERATE|MISSENSE|Gtt/Att|V343I|2920|BPTF|protein_coding|CODING|ENST00000306378|exon_17_65850056_65850878 . . . 0/1:99:255,0,255 17 65850469 rs200853934 G A NON_SYNONYMOUS_CODING BPTF MODERATE|MISSENSE|Gtt/Att|V343I|3046|BPTF|protein_coding|CODING|ENST00000321892|exon_17_65850056_65850878 . . . 0/1:99:255,0,255 17 66265367 rs199555462 T C NON_SYNONYMOUS_CODING SLC16A6 MODERATE|MISSENSE|cAt/cGt|H481R|523|SLC16A6|protein_coding|CODING|ENST00000327268|exon_17_66263167_66265487 1/1:59:143,31,0 1/1:67:169,35,0 . . 17 66267691 rs7222013 A T NON_SYNONYMOUS_CODING SLC16A6 MODERATE|MISSENSE|Ttt/Att|F204I|523|SLC16A6|protein_coding|CODING|ENST00000327268|exon_17_66266980_66267795 1/1:99:255,90,0 1/1:99:255,96,0 . . 17 67017930 rs17684521 T C NON_SYNONYMOUS_CODING ABCA9 MODERATE|MISSENSE|aAt/aGt|N768S|1569|ABCA9|protein_coding|CODING|ENST00000453985|exon_17_67017883_67018002 . . 0/1:99:255,0,255 . 17 67017930 rs17684521 T C NON_SYNONYMOUS_CODING ABCA9 MODERATE|MISSENSE|aAt/aGt|N780S|1140|ABCA9|protein_coding|CODING|ENST00000453749|exon_17_67017883_67018002 . . 0/1:99:255,0,255 . 17 67017930 rs17684521 T C NON_SYNONYMOUS_CODING ABCA9 MODERATE|MISSENSE|aAt/aGt|N785S|1435|ABCA9|protein_coding|CODING|ENST00000370732|exon_17_67017883_67018002 . . 0/1:99:255,0,255 . 17 67017930 rs17684521 T C NON_SYNONYMOUS_CODING ABCA9 MODERATE|MISSENSE|aAt/aGt|N785S|1624|ABCA9|protein_coding|CODING|ENST00000340001|exon_17_67017883_67018002 . . 0/1:99:255,0,255 . 17 67146149 rs141260911 G A NON_SYNONYMOUS_CODING ABCA10 MODERATE|MISSENSE|Cgg/Tgg|R1485W|1543|ABCA10|protein_coding|CODING|ENST00000269081|exon_17_67146125_67146204 . . . 0/1:99:255,0,255 17 67151207 rs72853603 C A NON_SYNONYMOUS_CODING ABCA10 MODERATE|MISSENSE|aGa/aTa|R1216I|1543|ABCA10|protein_coding|CODING|ENST00000269081|exon_17_67151160_67151277 . 0/1:99:255,0,255 . . 17 71380087 rs2270716 G C NON_SYNONYMOUS_CODING SDK2 MODERATE|MISSENSE|Ctc/Gtc|L1169V|1796|SDK2|protein_coding|CODING|ENST00000409227|exon_17_71380015_71380150 . . . 0/1:99:250,0,192 17 71380087 rs2270716 G C NON_SYNONYMOUS_CODING SDK2 MODERATE|MISSENSE|Ctc/Gtc|L1545V|2153|SDK2|protein_coding|CODING|ENST00000388726|exon_17_71380015_71380150 . . . 0/1:99:250,0,192 17 71380087 rs2270716 G C NON_SYNONYMOUS_CODING SDK2 MODERATE|MISSENSE|Ctc/Gtc|L1545V|2172|SDK2|protein_coding|CODING|ENST00000392650|exon_17_71380015_71380150 . . . 0/1:99:250,0,192 17 71380087 rs2270716 G C NON_SYNONYMOUS_CODING SDK2 MODERATE|MISSENSE|Ctc/Gtc|L1545V|2216|SDK2|protein_coding|CODING|ENST00000316893|exon_17_71380015_71380150 . . . 0/1:99:250,0,192 17 71380087 rs2270716 G C NON_SYNONYMOUS_CODING SDK2 MODERATE|MISSENSE|Ctc/Gtc|L721V|1329|SDK2|protein_coding|CODING|ENST00000424778|exon_17_71380015_71380150 . . . 0/1:99:250,0,192 17 71382674 rs143657622 T A NON_SYNONYMOUS_CODING SDK2 MODERATE|MISSENSE|Acg/Tcg|T1094S|1796|SDK2|protein_coding|CODING|ENST00000409227|exon_17_71382584_71382687 0/1:99:198,0,254 . . . 17 71382674 rs143657622 T A NON_SYNONYMOUS_CODING SDK2 MODERATE|MISSENSE|Acg/Tcg|T1470S|2153|SDK2|protein_coding|CODING|ENST00000388726|exon_17_71382584_71382687 0/1:99:198,0,254 . . . 17 71382674 rs143657622 T A NON_SYNONYMOUS_CODING SDK2 MODERATE|MISSENSE|Acg/Tcg|T1470S|2172|SDK2|protein_coding|CODING|ENST00000392650|exon_17_71382584_71382687 0/1:99:198,0,254 . . . 17 71382674 rs143657622 T A NON_SYNONYMOUS_CODING SDK2 MODERATE|MISSENSE|Acg/Tcg|T1470S|2216|SDK2|protein_coding|CODING|ENST00000316893|exon_17_71382584_71382687 0/1:99:198,0,254 . . . 17 71382674 rs143657622 T A NON_SYNONYMOUS_CODING SDK2 MODERATE|MISSENSE|Acg/Tcg|T646S|1329|SDK2|protein_coding|CODING|ENST00000424778|exon_17_71382584_71382687 0/1:99:198,0,254 . . . 17 72240168 rs35682745 G A NON_SYNONYMOUS_CODING TTYH2 MODERATE|MISSENSE|Gct/Act|A241T|513|TTYH2|protein_coding|CODING|ENST00000529107|exon_17_72240116_72240188 0/1:99:231,0,143 . . . 17 72240168 rs35682745 G A NON_SYNONYMOUS_CODING TTYH2 MODERATE|MISSENSE|Gct/Act|A262T|534|TTYH2|protein_coding|CODING|ENST00000269346|exon_17_72240116_72240188 0/1:99:231,0,143 . . . 17 72248512 rs12600564 C T NON_SYNONYMOUS_CODING TTYH2 MODERATE|MISSENSE|aCc/aTc|T398I|513|TTYH2|protein_coding|CODING|ENST00000529107|exon_17_72248373_72248515 0/1:99:173,0,247 . . . 17 72248512 rs12600564 C T NON_SYNONYMOUS_CODING TTYH2 MODERATE|MISSENSE|aCc/aTc|T419I|534|TTYH2|protein_coding|CODING|ENST00000269346|exon_17_72248373_72248515 0/1:99:173,0,247 . . . 17 72248512 rs12600564 C T NON_SYNONYMOUS_CODING TTYH2 MODERATE|MISSENSE|aCc/aTc|T98I|213|TTYH2|protein_coding|CODING|ENST00000441391|exon_17_72248373_72248515 0/1:99:173,0,247 . . . 17 72346868 rs2382644 C T NON_SYNONYMOUS_CODING KIF19 MODERATE|MISSENSE|Cgg/Tgg|R429W|612|KIF19|protein_coding|CODING|ENST00000551294|exon_17_72346846_72347044 0/1:99:253,0,208 . . . 17 72346868 rs2382644 C T NON_SYNONYMOUS_CODING KIF19 MODERATE|MISSENSE|Cgg/Tgg|R471W|998|KIF19|protein_coding|CODING|ENST00000389916|exon_17_72346846_72347044 0/1:99:253,0,208 . . . 17 72588778 rs58253413 C T NON_SYNONYMOUS_CODING C17orf77 MODERATE|MISSENSE|aCa/aTa|T198I|243|C17orf77|protein_coding|CODING|ENST00000328023|exon_17_72588123_72590348 0/1:99:200,0,255 0/1:99:194,0,255 . . 17 72588778 rs58253413 C T NON_SYNONYMOUS_CODING C17orf77 MODERATE|MISSENSE|aCa/aTa|T198I|243|C17orf77|protein_coding|CODING|ENST00000392620|exon_17_72588123_72590348 0/1:99:200,0,255 0/1:99:194,0,255 . . 17 72691347 rs145631229 A G NON_SYNONYMOUS_CODING CD300LF MODERATE|MISSENSE|tTg/tCg|L254S|290|CD300LF|protein_coding|CODING|ENST00000326165|exon_17_72690456_72691390 0/1:99:230,0,221 . . . 17 72832362 rs201073954 G A NON_SYNONYMOUS_CODING TMEM104 MODERATE|MISSENSE|Gcg/Acg|A343T|496|TMEM104|protein_coding|CODING|ENST00000335464|exon_17_72832066_72835918 . . 0/1:99:147,0,224 . 17 72877212 rs7219093 C T NON_SYNONYMOUS_CODING FADS6 MODERATE|MISSENSE|Gtc/Atc|V238I|350|FADS6|protein_coding|CODING|ENST00000310226|exon_17_72877198_72877385 0/1:99:151,0,208 . . . 17 72943434 rs35702634 G A NON_SYNONYMOUS_CODING OTOP3 MODERATE|MISSENSE|cGc/cAc|R495H|596|OTOP3|protein_coding|CODING|ENST00000328801|exon_17_72942756_72943570 . . . 0/1:99:141,0,165 17 73127348 rs11541956 G A NON_SYNONYMOUS_CODING NT5C MODERATE|MISSENSE|cCg/cTg|P68L|201|NT5C|protein_coding|CODING|ENST00000245552|exon_17_73127276_73127376 . 0/1:99:222,0,255 . . 17 73497583 . C T NON_SYNONYMOUS_CODING CASKIN2 MODERATE|MISSENSE|Gca/Aca|A1080T|1120|CASKIN2|protein_coding|CODING|ENST00000433559|exon_17_73497549_73497771 . . . 0/1:99:199,0,207 17 73497583 . C T NON_SYNONYMOUS_CODING CASKIN2 MODERATE|MISSENSE|Gca/Aca|A1162T|1202|CASKIN2|protein_coding|CODING|ENST00000321617|exon_17_73497549_73497771 . . . 0/1:99:199,0,207 17 73512884 rs8079373 T G NON_SYNONYMOUS_CODING TSEN54 MODERATE|MISSENSE|caT/caG|H38Q|177|TSEN54|protein_coding|CODING|ENST00000545228|exon_17_73512827_73512991 . . . 0/1:79:77,0,83 17 73512884 rs8079373 T G NON_SYNONYMOUS_CODING TSEN54 MODERATE|MISSENSE|caT/caG|H38Q|526|TSEN54|protein_coding|CODING|ENST00000333213|exon_17_73512827_73512991 . . . 0/1:79:77,0,83 17 73518328 rs77247739 A C NON_SYNONYMOUS_CODING TSEN54 MODERATE|MISSENSE|cAg/cCg|Q389P|526|TSEN54|protein_coding|CODING|ENST00000333213|exon_17_73517786_73518414 . . . 0/1:99:185,0,115 17 73565171 rs1671021 T C NON_SYNONYMOUS_CODING LLGL2 MODERATE|MISSENSE|Ttc/Ctc|F468L|1004|LLGL2|protein_coding|CODING|ENST00000545227|exon_17_73565059_73565212 . 1/1:99:255,93,0 0/1:99:233,0,113 1/1:99:255,75,0 17 73565171 rs1671021 T C NON_SYNONYMOUS_CODING LLGL2 MODERATE|MISSENSE|Ttc/Ctc|F479L|1015|LLGL2|protein_coding|CODING|ENST00000167462|exon_17_73565059_73565212 . 1/1:99:255,93,0 0/1:99:233,0,113 1/1:99:255,75,0 17 73565171 rs1671021 T C NON_SYNONYMOUS_CODING LLGL2 MODERATE|MISSENSE|Ttc/Ctc|F479L|1020|LLGL2|protein_coding|CODING|ENST00000392550|exon_17_73565059_73565212 . 1/1:99:255,93,0 0/1:99:233,0,113 1/1:99:255,75,0 17 73567846 rs1661715 C T NON_SYNONYMOUS_CODING LLGL2 MODERATE|MISSENSE|Cct/Tct|P748S|1004|LLGL2|protein_coding|CODING|ENST00000545227|exon_17_73567748_73567864 . 1/1:99:255,57,0 0/1:99:170,0,180 0/1:99:239,0,203 17 73567846 rs1661715 C T NON_SYNONYMOUS_CODING LLGL2 MODERATE|MISSENSE|Cct/Tct|P759S|1015|LLGL2|protein_coding|CODING|ENST00000167462|exon_17_73567748_73567864 . 1/1:99:255,57,0 0/1:99:170,0,180 0/1:99:239,0,203 17 73567846 rs1661715 C T NON_SYNONYMOUS_CODING LLGL2 MODERATE|MISSENSE|Cct/Tct|P759S|1020|LLGL2|protein_coding|CODING|ENST00000392550|exon_17_73567748_73567864 . 1/1:99:255,57,0 0/1:99:170,0,180 0/1:99:239,0,203 17 73570718 rs1126939 C G NON_SYNONYMOUS_CODING LLGL2 MODERATE|MISSENSE|cCg/cGg|P983R|1004|LLGL2|protein_coding|CODING|ENST00000545227|exon_17_73570691_73570749 . 1/1:81:255,42,0 0/1:99:177,0,161 0/1:99:166,0,142 17 73570718 rs1126939 C G NON_SYNONYMOUS_CODING LLGL2 MODERATE|MISSENSE|cCg/cGg|P994R|1015|LLGL2|protein_coding|CODING|ENST00000167462|exon_17_73570691_73570749 . 1/1:81:255,42,0 0/1:99:177,0,161 0/1:99:166,0,142 17 73620312 . G A NON_SYNONYMOUS_CODING MYO15B MODERATE|MISSENSE|cGg/cAg|R168Q|487|MYO15B|protein_coding|CODING|ENST00000293201|exon_17_73620255_73620349 . . 0/1:99:154,0,152 . 17 73662514 . C A NON_SYNONYMOUS_CODING RECQL5 MODERATE|MISSENSE|Gta/Tta|V42L|1018|RECQL5|protein_coding|CODING|ENST00000423245|exon_17_73662508_73662651 0/1:99:182,0,255 . . . 17 73662514 . C A NON_SYNONYMOUS_CODING RECQL5 MODERATE|MISSENSE|Gta/Tta|V42L|410|RECQL5|protein_coding|CODING|ENST00000420326|exon_17_73662508_73662651 0/1:99:182,0,255 . . . 17 73662514 . C A NON_SYNONYMOUS_CODING RECQL5 MODERATE|MISSENSE|Gta/Tta|V42L|435|RECQL5|protein_coding|CODING|ENST00000340830|exon_17_73662508_73662651 0/1:99:182,0,255 . . . 17 73662514 . C A NON_SYNONYMOUS_CODING RECQL5 MODERATE|MISSENSE|Gta/Tta|V42L|991|RECQL5|protein_coding|CODING|ENST00000317905|exon_17_73662508_73662651 0/1:99:182,0,255 . . . 17 73823720 rs9916685 G A NON_SYNONYMOUS_CODING UNC13D MODERATE|MISSENSE|tCc/tTc|S1087F|1142|UNC13D|protein_coding|CODING|ENST00000412096|exon_17_73823551_73823739 0/1:99:238,0,255 . . . 17 73823720 rs9916685 G A NON_SYNONYMOUS_CODING UNC13D MODERATE|MISSENSE|tCc/tTc|S889F|944|UNC13D|protein_coding|CODING|ENST00000448606|exon_17_73823551_73823784 0/1:99:238,0,255 . . . 17 73830182 rs149871493 C T NON_SYNONYMOUS_CODING UNC13D MODERATE|MISSENSE|Gtc/Atc|V781I|1090|UNC13D|protein_coding|CODING|ENST00000207549|exon_17_73830156_73830224 . . 0/1:99:190,0,220 . 17 73830182 rs149871493 C T NON_SYNONYMOUS_CODING UNC13D MODERATE|MISSENSE|Gtc/Atc|V781I|1142|UNC13D|protein_coding|CODING|ENST00000412096|exon_17_73830156_73830224 . . 0/1:99:190,0,220 . 17 73830182 rs149871493 C T NON_SYNONYMOUS_CODING UNC13D MODERATE|MISSENSE|Gtc/Atc|V781I|944|UNC13D|protein_coding|CODING|ENST00000448606|exon_17_73830156_73830224 . . 0/1:99:190,0,220 . 17 73987590 rs11544990 G T NON_SYNONYMOUS_CODING TEN1 MODERATE|MISSENSE|Gct/Tct|A45S|122|TEN1|protein_coding|CODING|ENST00000416485|exon_17_73987547_73987704 . . 0/1:99:255,0,255 . 17 73987590 rs11544990 G T NON_SYNONYMOUS_CODING TEN1 MODERATE|MISSENSE|Gct/Tct|A46S|123|TEN1|protein_coding|CODING|ENST00000397640|exon_17_73987547_73987704 . . 0/1:99:255,0,255 . 17 74018597 rs10445216 T C NON_SYNONYMOUS_CODING EVPL MODERATE|MISSENSE|tAc/tGc|Y168C|2033|EVPL|protein_coding|CODING|ENST00000301607|exon_17_74018494_74018619 . . 0/1:99:166,0,166 . 17 74019453 rs150149800 G A NON_SYNONYMOUS_CODING EVPL MODERATE|MISSENSE|Cgt/Tgt|R134C|2033|EVPL|protein_coding|CODING|ENST00000301607|exon_17_74019373_74019499 . . 0/1:99:255,0,120 . 17 74019680 rs78044548 C T NON_SYNONYMOUS_CODING EVPL MODERATE|MISSENSE|cGc/cAc|R85H|2033|EVPL|protein_coding|CODING|ENST00000301607|exon_17_74019581_74019735 . . 0/1:99:251,0,248 . 17 74288410 rs80109605 C T NON_SYNONYMOUS_CODING QRICH2 MODERATE|MISSENSE|Ggt/Agt|G634S|1429|QRICH2|protein_coding|CODING|ENST00000301613|exon_17_74287096_74290102 . . 0/1:99:101,0,184 . 17 74288410 rs80109605 C T NON_SYNONYMOUS_CODING QRICH2 MODERATE|MISSENSE|Ggt/Agt|G634S|1663|QRICH2|protein_coding|CODING|ENST00000262765|exon_17_74287096_74290102 . . 0/1:99:101,0,184 . 17 74557431 rs185259870 C T NON_SYNONYMOUS_CODING AC090699.1.1 MODERATE|MISSENSE|gCt/gTt|A22V|55|AC090699.1.1|protein_coding|CODING|ENST00000448136|exon_17_74557370_74557480 . . . 0/1:99:226,0,255 17 74625686 rs8077382 A G NON_SYNONYMOUS_CODING ST6GALNAC1 MODERATE|MISSENSE|gTg/gCg|V80A|471|ST6GALNAC1|protein_coding|CODING|ENST00000359088|exon_17_74625094_74625793 . . . 0/1:99:255,0,210 17 74625686 rs8077382 A G NON_SYNONYMOUS_CODING ST6GALNAC1 MODERATE|MISSENSE|gTg/gCg|V80A|600|ST6GALNAC1|protein_coding|CODING|ENST00000156626|exon_17_74625094_74625793 . . . 0/1:99:255,0,210 17 75425206 rs61733275 A G NON_SYNONYMOUS_CODING AC111170.3.1 MODERATE|MISSENSE|aAg/aGg|K59R|132|AC111170.3.1|protein_coding|CODING|ENST00000422783|exon_17_75424897_75427072 0/1:99:154,0,121 . . . 17 76117124 rs75400929 G A NON_SYNONYMOUS_CODING TMC6 MODERATE|MISSENSE|cCg/cTg|P141L|384|TMC6|protein_coding|CODING|ENST00000322933|exon_17_76117094_76117245 . 0/1:99:236,0,255 . . 17 76117124 rs75400929 G A NON_SYNONYMOUS_CODING TMC6 MODERATE|MISSENSE|cCg/cTg|P502L|805|TMC6|protein_coding|CODING|ENST00000322914|exon_17_76117094_76117245 . 0/1:99:236,0,255 . . 17 76117124 rs75400929 G A NON_SYNONYMOUS_CODING TMC6 MODERATE|MISSENSE|cCg/cTg|P502L|805|TMC6|protein_coding|CODING|ENST00000392467|exon_17_76117094_76117245 . 0/1:99:236,0,255 . . 17 76236014 . G A NON_SYNONYMOUS_CODING TMEM235 MODERATE|MISSENSE|Gag/Aag|E382K|394|TMEM235|protein_coding|CODING|ENST00000421688|exon_17_76235861_76237067 0/1:99:172,0,168 . . . 17 76267779 rs872358 A C NON_SYNONYMOUS_CODING AC087645.1 MODERATE|MISSENSE|tTc/tGc|F79C|205|AC087645.1|protein_coding|CODING|ENST00000374945|exon_17_76267333_76268048 . 0/1:99:232,0,216 . . 17 76455265 rs74335865 C T NON_SYNONYMOUS_CODING DNAH17 MODERATE|MISSENSE|Gac/Aac|D3213N|4485|DNAH17|protein_coding|CODING|ENST00000389840|exon_17_76455083_76455290 . . 0/1:99:206,0,200 . 17 76455265 rs74335865 C T NON_SYNONYMOUS_CODING DNAH17 MODERATE|MISSENSE|Gac/Aac|D3222N|4457|DNAH17|protein_coding|CODING|ENST00000300671|exon_17_76455083_76455290 . . 0/1:99:206,0,200 . 17 76464916 rs635874 G A NON_SYNONYMOUS_CODING DNAH17 MODERATE|MISSENSE|tCg/tTg|S2840L|4485|DNAH17|protein_coding|CODING|ENST00000389840|exon_17_76464699_76464965 . . . 0/1:99:129,0,255 17 76464916 rs635874 G A NON_SYNONYMOUS_CODING DNAH17 MODERATE|MISSENSE|tCg/tTg|S2849L|4457|DNAH17|protein_coding|CODING|ENST00000300671|exon_17_76464699_76464965 . . . 0/1:99:129,0,255 17 76510927 rs138375540 G A NON_SYNONYMOUS_CODING DNAH17 MODERATE|MISSENSE|Cgt/Tgt|R1344C|4485|DNAH17|protein_coding|CODING|ENST00000389840|exon_17_76510856_76511104 . . . 0/1:99:174,0,255 17 76510927 rs138375540 G A NON_SYNONYMOUS_CODING DNAH17 MODERATE|MISSENSE|Cgt/Tgt|R1345C|4457|DNAH17|protein_coding|CODING|ENST00000300671|exon_17_76510856_76511104 . . . 0/1:99:174,0,255 17 77768696 rs61758361 T C NON_SYNONYMOUS_CODING CBX8 MODERATE|MISSENSE|aAt/aGt|N278S|277|CBX8|protein_coding|CODING|ENST00000427800|exon_17_77768693_77769357 . 0/1:99:255,0,255 0/1:99:255,0,253 . 17 77768696 rs61758361 T C NON_SYNONYMOUS_CODING CBX8 MODERATE|MISSENSE|aAt/aGt|N303S|389|CBX8|protein_coding|CODING|ENST00000269385|exon_17_77765931_77769357 . 0/1:99:255,0,255 0/1:99:255,0,253 . 17 78041408 rs151038976 C A NON_SYNONYMOUS_CODING CCDC40 MODERATE|MISSENSE|cCc/cAc|P556H|579|CCDC40|protein_coding|CODING|ENST00000269318|exon_17_78041304_78041481 . . . 0/1:99:186,0,233 17 78069129 rs61686936 G A NON_SYNONYMOUS_CODING CCDC40 MODERATE|MISSENSE|cGc/cAc|R967H|1142|CCDC40|protein_coding|CODING|ENST00000397545|exon_17_78069062_78069250 . . 0/1:99:255,0,182 . 17 78085871 rs1800307 G A NON_SYNONYMOUS_CODING GAA MODERATE|MISSENSE|Ggc/Agc|G576S|952|GAA|protein_coding|CODING|ENST00000302262|exon_17_78085782_78085899 0/1:99:113,0,213 . . . 17 78085871 rs1800307 G A NON_SYNONYMOUS_CODING GAA MODERATE|MISSENSE|Ggc/Agc|G576S|952|GAA|protein_coding|CODING|ENST00000390015|exon_17_78085782_78085899 0/1:99:113,0,213 . . . 17 78087041 rs1800309 G A NON_SYNONYMOUS_CODING GAA MODERATE|MISSENSE|Gag/Aag|E689K|952|GAA|protein_coding|CODING|ENST00000302262|exon_17_78087017_78087165 0/1:99:200,0,246 0/1:99:181,0,185 . . 17 78087041 rs1800309 G A NON_SYNONYMOUS_CODING GAA MODERATE|MISSENSE|Gag/Aag|E689K|952|GAA|protein_coding|CODING|ENST00000390015|exon_17_78087017_78087165 0/1:99:200,0,246 0/1:99:181,0,185 . . 17 78978275 rs61048303 A G NON_SYNONYMOUS_CODING AC127496.1 MODERATE|MISSENSE|Aat/Gat|N73D|156|AC127496.1|protein_coding|CODING|ENST00000321930|exon_17_78977135_78978932 0/1:84:81,0,191 . . . 17 78978276 rs61115021 A G NON_SYNONYMOUS_CODING AC127496.1 MODERATE|MISSENSE|aAt/aGt|N73S|156|AC127496.1|protein_coding|CODING|ENST00000321930|exon_17_78977135_78978932 0/1:83:80,0,186 . . . 17 79093275 rs8082016 G A NON_SYNONYMOUS_CODING AATK MODERATE|MISSENSE|aCg/aTg|T1330M|1374|AATK|protein_coding|CODING|ENST00000326724|exon_17_79093180_79093380 . . . 0/1:99:113,0,102 17 79096115 rs61738821 C T NON_SYNONYMOUS_CODING AATK MODERATE|MISSENSE|Gcc/Acc|A505T|879|AATK|protein_coding|CODING|ENST00000374792|exon_17_79095048_79096226 0/1:17:112,0,14 . . . 17 79096115 rs61738821 C T NON_SYNONYMOUS_CODING AATK MODERATE|MISSENSE|Gcc/Acc|A541T|1374|AATK|protein_coding|CODING|ENST00000326724|exon_17_79094001_79096623 0/1:17:112,0,14 . . . 17 79104969 rs200778338 C T NON_SYNONYMOUS_CODING AATK MODERATE|MISSENSE|Gac/Aac|D76N|1374|AATK|protein_coding|CODING|ENST00000326724|exon_17_79104861_79105005 . . 0/1:97:94,0,224 . 17 79104969 rs200778338 C T NON_SYNONYMOUS_CODING AATK MODERATE|MISSENSE|Gac/Aac|D76N|879|AATK|protein_coding|CODING|ENST00000374792|exon_17_79104861_79105005 . . 0/1:97:94,0,224 . 17 79164488 rs117616373 C T NON_SYNONYMOUS_CODING AZI1 MODERATE|MISSENSE|Gcc/Acc|A1020T|1080|AZI1|protein_coding|CODING|ENST00000450824|exon_17_79164439_79164602 0/1:99:154,0,178 . . . 17 79164488 rs117616373 C T NON_SYNONYMOUS_CODING AZI1 MODERATE|MISSENSE|Gcc/Acc|A1023T|1083|AZI1|protein_coding|CODING|ENST00000269392|exon_17_79164439_79164602 0/1:99:154,0,178 . . . 17 79164488 rs117616373 C T NON_SYNONYMOUS_CODING AZI1 MODERATE|MISSENSE|Gcc/Acc|A984T|1044|AZI1|protein_coding|CODING|ENST00000374782|exon_17_79164439_79164602 0/1:99:154,0,178 . . . 17 79205421 rs61745945 G A NON_SYNONYMOUS_CODING C17orf56 MODERATE|MISSENSE|Cgc/Tgc|R174C|441|C17orf56|protein_coding|CODING|ENST00000374769|exon_17_79205378_79205491 . . 0/1:99:156,0,255 . 17 79205421 rs61745945 G A NON_SYNONYMOUS_CODING C17orf56 MODERATE|MISSENSE|Cgc/Tgc|R258C|525|C17orf56|protein_coding|CODING|ENST00000300714|exon_17_79205378_79205491 . . 0/1:99:156,0,255 . 17 79278810 rs2048058 G A NON_SYNONYMOUS_CODING LINC00482 MODERATE|MISSENSE|Cgt/Tgt|R119C|264|LINC00482|protein_coding|CODING|ENST00000332012|exon_17_79276624_79279162 . . . 0/1:99:235,0,104 17 79279017 rs2056439 C G NON_SYNONYMOUS_CODING LINC00482 MODERATE|MISSENSE|Gtg/Ctg|V50L|264|LINC00482|protein_coding|CODING|ENST00000332012|exon_17_79276624_79279162 0/1:71:68,0,255 . . 0/1:99:166,0,170 17 79427389 rs34680524 G A NON_SYNONYMOUS_CODING BAHCC1 MODERATE|MISSENSE|Gtc/Atc|V1998I|2608|BAHCC1|protein_coding|CODING|ENST00000307745|exon_17_79427303_79427422 . . . 0/1:83:225,0,80 17 79634774 rs61742303 A T NON_SYNONYMOUS_CODING CCDC137 MODERATE|MISSENSE|aaA/aaT|K50N|289|CCDC137|protein_coding|CODING|ENST00000329214|exon_17_79634759_79634892 0/1:99:214,0,255 . . . 17 79638805 rs11150805 C T NON_SYNONYMOUS_CODING CCDC137 MODERATE|MISSENSE|Cgg/Tgg|R177W|289|CCDC137|protein_coding|CODING|ENST00000329214|exon_17_79638774_79638856 0/1:99:220,0,196 . . . 17 79898933 rs62077244 G A NON_SYNONYMOUS_CODING MYADML2 MODERATE|MISSENSE|Cgg/Tgg|R229W|307|MYADML2|protein_coding|CODING|ENST00000330655|exon_17_79897522_79899719 0/1:99:238,0,165 . 0/1:99:240,0,149 0/1:99:126,0,243 17 79898933 rs62077244 G A NON_SYNONYMOUS_CODING MYADML2 MODERATE|MISSENSE|Cgg/Tgg|R229W|307|MYADML2|protein_coding|CODING|ENST00000409745|exon_17_79897521_79899719 0/1:99:238,0,165 . 0/1:99:240,0,149 0/1:99:126,0,243 17 79986156 rs72861736 C T NON_SYNONYMOUS_CODING LRRC45 MODERATE|MISSENSE|gCc/gTc|A365V|670|LRRC45|protein_coding|CODING|ENST00000306688|exon_17_79986110_79986187 . 0/1:99:230,0,146 . . 17 80320049 rs143841873 G A NON_SYNONYMOUS_CODING TEX19 MODERATE|MISSENSE|cGg/cAg|R8Q|164|TEX19|protein_coding|CODING|ENST00000333437|exon_17_80319756_80321652 . . 0/1:99:190,0,251 . 17 80332690 . G C NON_SYNONYMOUS_CODING UTS2R MODERATE|MISSENSE|Ggc/Cgc|G164R|389|UTS2R|protein_coding|CODING|ENST00000313135|exon_17_80332153_80333462 0/1:99:167,0,169 . . . 17 80710097 rs11550062 G T NON_SYNONYMOUS_CODING TBCD MODERATE|MISSENSE|Ggc/Tgc|G10C|1192|TBCD|protein_coding|CODING|ENST00000355528|exon_17_80709940_80710253 . . . 0/1:41:95,0,38 17 80710097 rs11550062 G T NON_SYNONYMOUS_CODING TBCD MODERATE|MISSENSE|Ggc/Tgc|G10C|421|TBCD|protein_coding|CODING|ENST00000269368|exon_17_80709961_80710253 . . . 0/1:41:95,0,38 17 80710097 rs11550062 G T NON_SYNONYMOUS_CODING TBCD MODERATE|MISSENSE|Ggc/Tgc|G10C|750|TBCD|protein_coding|CODING|ENST00000536182|exon_17_80709983_80710253 . . . 0/1:41:95,0,38 17 80789468 rs35653278 G A NON_SYNONYMOUS_CODING ZNF750 MODERATE|MISSENSE|cCg/cTg|P288L|723|ZNF750|protein_coding|CODING|ENST00000269394|exon_17_80788895_80790512 . 0/1:99:166,0,238 . . 17 80915239 rs148957583 C T NON_SYNONYMOUS_CODING B3GNTL1 MODERATE|MISSENSE|cGc/cAc|R286H|361|B3GNTL1|protein_coding|CODING|ENST00000320865|exon_17_80915235_80915370 0/1:81:78,0,250 . . . 18 48171 rs62075712 G A NON_SYNONYMOUS_CODING RP11-683L23.1.1 MODERATE|MISSENSE|gCc/gTc|A185V|444|RP11-683L23.1.1|protein_coding|CODING|ENST00000308911|exon_18_47390_48447 . 0/1:99:122,0,221 . . 18 48387 rs4798106 G A NON_SYNONYMOUS_CODING RP11-683L23.1.1 MODERATE|MISSENSE|aCg/aTg|T113M|444|RP11-683L23.1.1|protein_coding|CODING|ENST00000308911|exon_18_47390_48447 . . . 0/1:54:51,0,249 18 357443 rs34395012 C G NON_SYNONYMOUS_CODING COLEC12 MODERATE|MISSENSE|ttG/ttC|L46F|742|COLEC12|protein_coding|CODING|ENST00000400256|exon_18_357400_357522 . . 0/1:99:255,0,255 . 18 3457607 rs2229333 C T NON_SYNONYMOUS_CODING TGIF1 MODERATE|MISSENSE|cCg/cTg|P143L|166|TGIF1|protein_coding|CODING|ENST00000552383|exon_18_3457363_3457682 0/1:99:250,0,255 . . . 18 3457607 rs2229333 C T NON_SYNONYMOUS_CODING TGIF1 MODERATE|MISSENSE|cCg/cTg|P143L|218|TGIF1|protein_coding|CODING|ENST00000549780|exon_18_3457363_3457837 0/1:99:250,0,255 . . . 18 3457607 rs2229333 C T NON_SYNONYMOUS_CODING TGIF1 MODERATE|MISSENSE|cCg/cTg|P143L|244|TGIF1|protein_coding|CODING|ENST00000549546|exon_18_3457363_3457916 0/1:99:250,0,255 . . . 18 3457607 rs2229333 C T NON_SYNONYMOUS_CODING TGIF1 MODERATE|MISSENSE|cCg/cTg|P143L|252|TGIF1|protein_coding|CODING|ENST00000345133|exon_18_3457363_3458121 0/1:99:250,0,255 . . . 18 3457607 rs2229333 C T NON_SYNONYMOUS_CODING TGIF1 MODERATE|MISSENSE|cCg/cTg|P143L|252|TGIF1|protein_coding|CODING|ENST00000400167|exon_18_3457363_3458404 0/1:99:250,0,255 . . . 18 3457607 rs2229333 C T NON_SYNONYMOUS_CODING TGIF1 MODERATE|MISSENSE|cCg/cTg|P143L|252|TGIF1|protein_coding|CODING|ENST00000401449|exon_18_3457363_3458404 0/1:99:250,0,255 . . . 18 3457607 rs2229333 C T NON_SYNONYMOUS_CODING TGIF1 MODERATE|MISSENSE|cCg/cTg|P143L|252|TGIF1|protein_coding|CODING|ENST00000405385|exon_18_3457363_3458411 0/1:99:250,0,255 . . . 18 3457607 rs2229333 C T NON_SYNONYMOUS_CODING TGIF1 MODERATE|MISSENSE|cCg/cTg|P143L|252|TGIF1|protein_coding|CODING|ENST00000472042|exon_18_3457363_3458409 0/1:99:250,0,255 . . . 18 3457607 rs2229333 C T NON_SYNONYMOUS_CODING TGIF1 MODERATE|MISSENSE|cCg/cTg|P143L|252|TGIF1|protein_coding|CODING|ENST00000551541|exon_18_3457363_3457942 0/1:99:250,0,255 . . . 18 3457607 rs2229333 C T NON_SYNONYMOUS_CODING TGIF1 MODERATE|MISSENSE|cCg/cTg|P163L|272|TGIF1|protein_coding|CODING|ENST00000343820|exon_18_3457363_3458388 0/1:99:250,0,255 . . . 18 3457607 rs2229333 C T NON_SYNONYMOUS_CODING TGIF1 MODERATE|MISSENSE|cCg/cTg|P163L|272|TGIF1|protein_coding|CODING|ENST00000407501|exon_18_3457363_3458347 0/1:99:250,0,255 . . . 18 3457607 rs2229333 C T NON_SYNONYMOUS_CODING TGIF1 MODERATE|MISSENSE|cCg/cTg|P177L|286|TGIF1|protein_coding|CODING|ENST00000548489|exon_18_3457363_3459976 0/1:99:250,0,255 . . . 18 3457607 rs2229333 C T NON_SYNONYMOUS_CODING TGIF1 MODERATE|MISSENSE|cCg/cTg|P292L|401|TGIF1|protein_coding|CODING|ENST00000330513|exon_18_3457363_3458409 0/1:99:250,0,255 . . . 18 5396324 rs61735459 G T NON_SYNONYMOUS_CODING EPB41L3 MODERATE|MISSENSE|aCg/aAg|T247K|384|EPB41L3|protein_coding|CODING|ENST00000427684|exon_18_5396200_5396331 . . 0/1:99:255,0,255 . 18 5396324 rs61735459 G T NON_SYNONYMOUS_CODING EPB41L3 MODERATE|MISSENSE|aCg/aAg|T255K|392|EPB41L3|protein_coding|CODING|ENST00000542146|exon_18_5396200_5396331 . . 0/1:99:255,0,255 . 18 5396324 rs61735459 G T NON_SYNONYMOUS_CODING EPB41L3 MODERATE|MISSENSE|aCg/aAg|T619K|756|EPB41L3|protein_coding|CODING|ENST00000540638|exon_18_5396200_5396331 . . 0/1:99:255,0,255 . 18 5396324 rs61735459 G T NON_SYNONYMOUS_CODING EPB41L3 MODERATE|MISSENSE|aCg/aAg|T619K|756|EPB41L3|protein_coding|CODING|ENST00000545076|exon_18_5396200_5396331 . . 0/1:99:255,0,255 . 18 5396324 rs61735459 G T NON_SYNONYMOUS_CODING EPB41L3 MODERATE|MISSENSE|aCg/aAg|T728K|865|EPB41L3|protein_coding|CODING|ENST00000400111|exon_18_5396200_5396331 . . 0/1:99:255,0,255 . 18 5396324 rs61735459 G T NON_SYNONYMOUS_CODING EPB41L3 MODERATE|MISSENSE|aCg/aAg|T781K|883|EPB41L3|protein_coding|CODING|ENST00000544123|exon_18_5396200_5396331 . . 0/1:99:255,0,255 . 18 5396324 rs61735459 G T NON_SYNONYMOUS_CODING EPB41L3 MODERATE|MISSENSE|aCg/aAg|T950K|1087|EPB41L3|protein_coding|CODING|ENST00000341928|exon_18_5396200_5396331 . . 0/1:99:255,0,255 . 18 5396324 rs61735459 G T NON_SYNONYMOUS_CODING EPB41L3 MODERATE|MISSENSE|aCg/aAg|T950K|1087|EPB41L3|protein_coding|CODING|ENST00000342933|exon_18_5396200_5396331 . . 0/1:99:255,0,255 . 18 5416221 rs9966357 C T NON_SYNONYMOUS_CODING EPB41L3 MODERATE|MISSENSE|Gcc/Acc|A555T|1087|EPB41L3|protein_coding|CODING|ENST00000341928|exon_18_5415817_5416377 0/1:99:255,0,200 . . . 18 5416221 rs9966357 C T NON_SYNONYMOUS_CODING EPB41L3 MODERATE|MISSENSE|Gcc/Acc|A555T|1087|EPB41L3|protein_coding|CODING|ENST00000342933|exon_18_5415817_5416377 0/1:99:255,0,200 . . . 18 5478295 rs117900256 C A NON_SYNONYMOUS_CODING EPB41L3 MODERATE|MISSENSE|aGc/aTc|S109I|1087|EPB41L3|protein_coding|CODING|ENST00000341928|exon_18_5478240_5478437 . 0/1:99:255,0,233 . . 18 5478295 rs117900256 C A NON_SYNONYMOUS_CODING EPB41L3 MODERATE|MISSENSE|aGc/aTc|S109I|1087|EPB41L3|protein_coding|CODING|ENST00000342933|exon_18_5478240_5478437 . 0/1:99:255,0,233 . . 18 5478295 rs117900256 C A NON_SYNONYMOUS_CODING EPB41L3 MODERATE|MISSENSE|aGc/aTc|S109I|865|EPB41L3|protein_coding|CODING|ENST00000400111|exon_18_5478240_5478437 . 0/1:99:255,0,233 . . 18 5478295 rs117900256 C A NON_SYNONYMOUS_CODING EPB41L3 MODERATE|MISSENSE|aGc/aTc|S109I|883|EPB41L3|protein_coding|CODING|ENST00000544123|exon_18_5478240_5478437 . 0/1:99:255,0,233 . . 18 5478295 rs117900256 C A NON_SYNONYMOUS_CODING EPB41L3 MODERATE|MISSENSE|aGc/aTc|S190I|310|EPB41L3|protein_coding|CODING|ENST00000542652|exon_18_5478240_5478437 . 0/1:99:255,0,233 . . 18 5890571 rs7506026 T C NON_SYNONYMOUS_CODING TMEM200C MODERATE|MISSENSE|Agc/Ggc|S498G|621|TMEM200C|protein_coding|CODING|ENST00000383490|exon_18_5890184_5892103 . . 0/1:99:100,0,150 . 18 5890777 rs146496912 T A NON_SYNONYMOUS_CODING TMEM200C MODERATE|MISSENSE|gAg/gTg|E429V|621|TMEM200C|protein_coding|CODING|ENST00000383490|exon_18_5890184_5892103 . . 0/1:99:131,0,149 0/1:58:55,0,87 18 6958609 rs543355 T C NON_SYNONYMOUS_CODING LAMA1 MODERATE|MISSENSE|Aca/Gca|T2611A|3075|LAMA1|protein_coding|CODING|ENST00000389658|exon_18_6958476_6958661 . 0/1:99:255,0,255 . . 18 6958609 rs543355 T C NON_SYNONYMOUS_CODING LAMA1 MODERATE|MISSENSE|Aca/Gca|T64A|216|LAMA1|protein_coding|CODING|ENST00000344342|exon_18_6958476_6958661 . 0/1:99:255,0,255 . . 18 6977844 rs671871 A G NON_SYNONYMOUS_CODING LAMA1 MODERATE|MISSENSE|aTt/aCt|I2076T|3075|LAMA1|protein_coding|CODING|ENST00000389658|exon_18_6977726_6977880 . 0/1:99:255,0,247 . . 18 6985270 rs11664063 C T NON_SYNONYMOUS_CODING LAMA1 MODERATE|MISSENSE|Gct/Act|A1876T|3075|LAMA1|protein_coding|CODING|ENST00000389658|exon_18_6985236_6985399 . 0/1:99:178,0,255 . . 18 6997818 rs12961939 A C NON_SYNONYMOUS_CODING LAMA1 MODERATE|MISSENSE|Tct/Gct|S1577A|3075|LAMA1|protein_coding|CODING|ENST00000389658|exon_18_6997741_6997883 . . . 0/1:99:255,0,255 18 7008591 rs662471 T C NON_SYNONYMOUS_CODING LAMA1 MODERATE|MISSENSE|Atg/Gtg|M1340V|3075|LAMA1|protein_coding|CODING|ENST00000389658|exon_18_7008487_7008607 . . . 0/1:99:255,0,255 18 8825409 rs114965084 G A NON_SYNONYMOUS_CODING CCDC165 MODERATE|MISSENSE|Gag/Aag|E1260K|1545|CCDC165|protein_coding|CODING|ENST00000400050|exon_18_8824697_8826230 . 0/1:99:214,0,214 . . 18 8825409 rs114965084 G A NON_SYNONYMOUS_CODING CCDC165 MODERATE|MISSENSE|Gag/Aag|E1260K|1545|CCDC165|protein_coding|CODING|ENST00000517570|exon_18_8824697_8826230 . 0/1:99:214,0,214 . . 18 8825409 rs114965084 G A NON_SYNONYMOUS_CODING CCDC165 MODERATE|MISSENSE|Gag/Aag|E1301K|1586|CCDC165|protein_coding|CODING|ENST00000359865|exon_18_8824697_8826230 . 0/1:99:214,0,214 . . 18 8825409 rs114965084 G A NON_SYNONYMOUS_CODING CCDC165 MODERATE|MISSENSE|Gag/Aag|E1322K|1672|CCDC165|protein_coding|CODING|ENST00000306329|exon_18_8824697_8826230 . 0/1:99:214,0,214 . . 18 8825409 rs114965084 G A NON_SYNONYMOUS_CODING CCDC165 MODERATE|MISSENSE|Gag/Aag|E626K|976|CCDC165|protein_coding|CODING|ENST00000306285|exon_18_8824697_8826230 . 0/1:99:214,0,214 . . 18 9536691 rs3322 G A NON_SYNONYMOUS_CODING RALBP1 MODERATE|MISSENSE|gGt/gAt|G329D|347|RALBP1|protein_coding|CODING|ENST00000458039|exon_18_9536609_9536960 . . 0/1:99:255,0,168 . 18 9887936 rs17805544 G C NON_SYNONYMOUS_CODING TXNDC2 MODERATE|MISSENSE|aGa/aCa|R285T|351|TXNDC2|protein_coding|CODING|ENST00000536353|exon_18_9887432_9888377 . 1/1:99:255,63,0 . . 18 9887936 rs17805544 G C NON_SYNONYMOUS_CODING TXNDC2 MODERATE|MISSENSE|aGa/aCa|R420T|486|TXNDC2|protein_coding|CODING|ENST00000357775|exon_18_9886586_9888156 . 1/1:99:255,63,0 . . 18 9887936 rs17805544 G C NON_SYNONYMOUS_CODING TXNDC2 MODERATE|MISSENSE|aGa/aCa|R472T|538|TXNDC2|protein_coding|CODING|ENST00000426718|exon_18_9887452_9888150 . 1/1:99:255,63,0 . . 18 9887936 rs17805544 G C NON_SYNONYMOUS_CODING TXNDC2 MODERATE|MISSENSE|aGa/aCa|R487T|553|TXNDC2|protein_coding|CODING|ENST00000306084|exon_18_9886586_9888150 . 1/1:99:255,63,0 . . 18 11610024 rs80224205 A G NON_SYNONYMOUS_CODING SLC35G4 MODERATE|MISSENSE|Atc/Gtc|I105V|307|SLC35G4|protein_coding|CODING|ENST00000424015|exon_18_11609712_11610607 . . . 0/1:58:55,0,236 18 11610321 rs200732647 T A NON_SYNONYMOUS_CODING SLC35G4 MODERATE|MISSENSE|Tcc/Acc|S204T|307|SLC35G4|protein_coding|CODING|ENST00000424015|exon_18_11609712_11610607 . . . 0/1:56:69,0,53 18 11886735 rs202068246 T A NON_SYNONYMOUS_CODING MPPE1 MODERATE|MISSENSE|Acg/Tcg|T144S|243|MPPE1|protein_coding|CODING|ENST00000317251|exon_18_11886712_11886777 . . 0/1:99:233,0,172 . 18 11886735 rs202068246 T A NON_SYNONYMOUS_CODING MPPE1 MODERATE|MISSENSE|Acg/Tcg|T241S|396|MPPE1|protein_coding|CODING|ENST00000309976|exon_18_11886712_11886777 . . 0/1:99:233,0,172 . 18 11886735 rs202068246 T A NON_SYNONYMOUS_CODING MPPE1 MODERATE|MISSENSE|Acg/Tcg|T242S|341|MPPE1|protein_coding|CODING|ENST00000399978|exon_18_11886712_11886780 . . 0/1:99:233,0,172 . 18 11886735 rs202068246 T A NON_SYNONYMOUS_CODING MPPE1 MODERATE|MISSENSE|Acg/Tcg|T242S|397|MPPE1|protein_coding|CODING|ENST00000344987|exon_18_11886712_11886780 . . 0/1:99:233,0,172 . 18 12277201 rs143259785 G C NON_SYNONYMOUS_CODING CIDEA MODERATE|MISSENSE|Gtg/Ctg|V198L|219|CIDEA|protein_coding|CODING|ENST00000320477|exon_18_12277122_12277279 . . 0/1:99:189,0,180 . 18 13056682 rs2282542 G A NON_SYNONYMOUS_CODING CEP192 MODERATE|MISSENSE|Gtg/Atg|V1365M|2537|CEP192|protein_coding|CODING|ENST00000506447|exon_18_13055779_13056697 . 0/1:99:255,0,255 0/1:99:255,0,200 . 18 13056682 rs2282542 G A NON_SYNONYMOUS_CODING CEP192 MODERATE|MISSENSE|Gtg/Atg|V769M|1941|CEP192|protein_coding|CODING|ENST00000325971|exon_18_13055779_13056697 . 0/1:99:255,0,255 0/1:99:255,0,200 . 18 13056682 rs2282542 G A NON_SYNONYMOUS_CODING CEP192 MODERATE|MISSENSE|Gtg/Atg|V769M|1941|CEP192|protein_coding|CODING|ENST00000399863|exon_18_13055779_13056697 . 0/1:99:255,0,255 0/1:99:255,0,200 . 18 13056682 rs2282542 G A NON_SYNONYMOUS_CODING CEP192 MODERATE|MISSENSE|Gtg/Atg|V890M|2062|CEP192|protein_coding|CODING|ENST00000430049|exon_18_13055779_13056697 . 0/1:99:255,0,255 0/1:99:255,0,200 . 18 13068109 rs7228940 G A NON_SYNONYMOUS_CODING CEP192 MODERATE|MISSENSE|cGc/cAc|R1069H|2062|CEP192|protein_coding|CODING|ENST00000430049|exon_18_13068093_13068236 . 0/1:99:255,0,255 0/1:99:255,0,255 . 18 13068109 rs7228940 G A NON_SYNONYMOUS_CODING CEP192 MODERATE|MISSENSE|cGc/cAc|R1544H|2537|CEP192|protein_coding|CODING|ENST00000506447|exon_18_13068093_13068236 . 0/1:99:255,0,255 0/1:99:255,0,255 . 18 13068109 rs7228940 G A NON_SYNONYMOUS_CODING CEP192 MODERATE|MISSENSE|cGc/cAc|R948H|1941|CEP192|protein_coding|CODING|ENST00000325971|exon_18_13068093_13068236 . 0/1:99:255,0,255 0/1:99:255,0,255 . 18 13068109 rs7228940 G A NON_SYNONYMOUS_CODING CEP192 MODERATE|MISSENSE|cGc/cAc|R948H|1941|CEP192|protein_coding|CODING|ENST00000399863|exon_18_13068093_13068236 . 0/1:99:255,0,255 0/1:99:255,0,255 . 18 13095591 rs56913743 G A NON_SYNONYMOUS_CODING CEP192 MODERATE|MISSENSE|cGg/cAg|R119Q|541|CEP192|protein_coding|CODING|ENST00000540847|exon_18_13095502_13095680 . 0/1:99:183,0,200 0/1:99:255,0,243 . 18 13095591 rs56913743 G A NON_SYNONYMOUS_CODING CEP192 MODERATE|MISSENSE|cGg/cAg|R1519Q|1941|CEP192|protein_coding|CODING|ENST00000325971|exon_18_13095502_13095680 . 0/1:99:183,0,200 0/1:99:255,0,243 . 18 13095591 rs56913743 G A NON_SYNONYMOUS_CODING CEP192 MODERATE|MISSENSE|cGg/cAg|R1519Q|1941|CEP192|protein_coding|CODING|ENST00000399863|exon_18_13095502_13095680 . 0/1:99:183,0,200 0/1:99:255,0,243 . 18 13095591 rs56913743 G A NON_SYNONYMOUS_CODING CEP192 MODERATE|MISSENSE|cGg/cAg|R1640Q|2062|CEP192|protein_coding|CODING|ENST00000430049|exon_18_13095502_13095680 . 0/1:99:183,0,200 0/1:99:255,0,243 . 18 13095591 rs56913743 G A NON_SYNONYMOUS_CODING CEP192 MODERATE|MISSENSE|cGg/cAg|R2115Q|2537|CEP192|protein_coding|CODING|ENST00000506447|exon_18_13095502_13095680 . 0/1:99:183,0,200 0/1:99:255,0,243 . 18 14808425 rs11662772 A G NON_SYNONYMOUS_CODING ANKRD30B MODERATE|MISSENSE|Aaa/Gaa|K48E|812|ANKRD30B|protein_coding|CODING|ENST00000277669|exon_18_14808372_14808459 . . . 0/1:99:255,0,212 18 22020467 rs582234 T A NON_SYNONYMOUS_CODING IMPACT MODERATE|MISSENSE|gaT/gaA|D125E|320|IMPACT|protein_coding|CODING|ENST00000284202|exon_18_22020460_22020582 . . . 0/1:99:255,0,255 18 23866185 rs74947492 G C NON_SYNONYMOUS_CODING TAF4B MODERATE|MISSENSE|Gtg/Ctg|V438L|618|TAF4B|protein_coding|CODING|ENST00000400466|exon_18_23865846_23866463 . 0/1:99:255,0,255 1/1:99:255,102,0 . 18 23866185 rs74947492 G C NON_SYNONYMOUS_CODING TAF4B MODERATE|MISSENSE|Gtg/Ctg|V438L|862|TAF4B|protein_coding|CODING|ENST00000269142|exon_18_23865846_23866463 . 0/1:99:255,0,255 1/1:99:255,102,0 . 18 23866185 rs74947492 G C NON_SYNONYMOUS_CODING TAF4B MODERATE|MISSENSE|Gtg/Ctg|V438L|865|TAF4B|protein_coding|CODING|ENST00000418698|exon_18_23865846_23866337 . 0/1:99:255,0,255 1/1:99:255,102,0 . 18 23872235 rs12963653 A G NON_SYNONYMOUS_CODING TAF4B MODERATE|MISSENSE|aAt/aGt|N539S|618|TAF4B|protein_coding|CODING|ENST00000400466|exon_18_23872210_23872345 0/1:99:255,0,255 . . 0/1:99:255,0,255 18 23872235 rs12963653 A G NON_SYNONYMOUS_CODING TAF4B MODERATE|MISSENSE|aAt/aGt|N539S|862|TAF4B|protein_coding|CODING|ENST00000269142|exon_18_23872210_23872345 0/1:99:255,0,255 . . 0/1:99:255,0,255 18 23872235 rs12963653 A G NON_SYNONYMOUS_CODING TAF4B MODERATE|MISSENSE|aAt/aGt|N542S|865|TAF4B|protein_coding|CODING|ENST00000418698|exon_18_23872195_23872345 0/1:99:255,0,255 . . 0/1:99:255,0,255 18 28737407 rs35338395 G A NON_SYNONYMOUS_CODING DSC1 MODERATE|MISSENSE|tCc/tTc|S93F|840|DSC1|protein_coding|CODING|ENST00000257197|exon_18_28737334_28737536 . . . 0/1:99:255,0,255 18 28737407 rs35338395 G A NON_SYNONYMOUS_CODING DSC1 MODERATE|MISSENSE|tCc/tTc|S93F|894|DSC1|protein_coding|CODING|ENST00000257198|exon_18_28737334_28737536 . . . 0/1:99:255,0,255 18 28919916 rs140327039 T G NON_SYNONYMOUS_CODING DSG1 MODERATE|MISSENSE|Ttg/Gtg|L539V|1049|DSG1|protein_coding|CODING|ENST00000257192|exon_18_28919707_28919988 0/1:99:230,0,255 . . . 18 29046607 rs149262687 T G NON_SYNONYMOUS_CODING DSG3 MODERATE|MISSENSE|gTg/gGg|V509G|999|DSG3|protein_coding|CODING|ENST00000257189|exon_18_29046493_29046717 . . 0/1:99:255,0,217 . 18 29078258 . T A NON_SYNONYMOUS_CODING DSG2 MODERATE|MISSENSE|cTg/cAg|L15Q|1118|DSG2|protein_coding|CODING|ENST00000261590|exon_18_29078027_29078259 . . . 0/1:99:110,0,206 18 29104714 rs2230234 A G NON_SYNONYMOUS_CODING DSG2 MODERATE|MISSENSE|Ata/Gta|I293V|1118|DSG2|protein_coding|CODING|ENST00000261590|exon_18_29104666_29104851 . 0/1:99:255,0,255 . . 18 29122618 rs79241126 G A NON_SYNONYMOUS_CODING DSG2 MODERATE|MISSENSE|Gag/Aag|E713K|1118|DSG2|protein_coding|CODING|ENST00000261590|exon_18_29122483_29122815 . 0/1:99:255,0,239 0/1:99:175,0,255 0/1:99:255,0,255 18 29172865 rs1800458 G A NON_SYNONYMOUS_CODING TTR MODERATE|MISSENSE|Ggt/Agt|G26S|139|TTR|protein_coding|CODING|ENST00000541025|exon_18_29172859_29172989 . 0/1:99:255,0,255 0/1:99:255,0,220 0/1:99:255,0,255 18 29172865 rs1800458 G A NON_SYNONYMOUS_CODING TTR MODERATE|MISSENSE|Ggt/Agt|G26S|147|TTR|protein_coding|CODING|ENST00000237014|exon_18_29172859_29172989 . 0/1:99:255,0,255 0/1:99:255,0,220 0/1:99:255,0,255 18 29172865 rs1800458 G A NON_SYNONYMOUS_CODING TTR MODERATE|MISSENSE|Ggt/Agt|G26S|184|TTR|protein_coding|CODING|ENST00000432547|exon_18_29172859_29172989 . 0/1:99:255,0,255 0/1:99:255,0,220 0/1:99:255,0,255 18 29782953 rs71361372 A G NON_SYNONYMOUS_CODING MEP1B MODERATE|MISSENSE|atA/atG|I116M|701|MEP1B|protein_coding|CODING|ENST00000269202|exon_18_29782856_29782973 . 0/1:99:255,0,255 . . 18 30791889 rs117587736 C G NON_SYNONYMOUS_CODING C18orf34 MODERATE|MISSENSE|Gta/Cta|V699L|829|C18orf34|protein_coding|CODING|ENST00000300227|exon_18_30791860_30792019 . . . 1/1:99:255,117,0 18 30791889 rs117587736 C G NON_SYNONYMOUS_CODING C18orf34 MODERATE|MISSENSE|Gta/Cta|V737L|817|C18orf34|protein_coding|CODING|ENST00000402325|exon_18_30791860_30792019 . . . 1/1:99:255,117,0 18 30791889 rs117587736 C G NON_SYNONYMOUS_CODING C18orf34 MODERATE|MISSENSE|Gta/Cta|V737L|867|C18orf34|protein_coding|CODING|ENST00000383096|exon_18_30791860_30792019 . . . 1/1:99:255,117,0 18 30791889 rs117587736 C G NON_SYNONYMOUS_CODING C18orf34 MODERATE|MISSENSE|Gta/Cta|V737L|867|C18orf34|protein_coding|CODING|ENST00000403303|exon_18_30791860_30792019 . . . 1/1:99:255,117,0 18 30791889 rs117587736 C G NON_SYNONYMOUS_CODING C18orf34 MODERATE|MISSENSE|Gta/Cta|V737L|891|C18orf34|protein_coding|CODING|ENST00000406524|exon_18_30791860_30792019 . . . 1/1:99:255,117,0 18 31326012 rs144534810 T G NON_SYNONYMOUS_CODING ASXL3 MODERATE|MISSENSE|cTt/cGt|L2067R|2248|ASXL3|protein_coding|CODING|ENST00000269197|exon_18_31322852_31327377 . . 0/1:99:212,0,133 . 18 32418752 rs139872140 C T NON_SYNONYMOUS_CODING DTNA MODERATE|MISSENSE|Cat/Tat|H115Y|452|DTNA|protein_coding|CODING|ENST00000269192|exon_18_32418709_32418801 . . . 0/1:99:255,0,255 18 32418752 rs139872140 C T NON_SYNONYMOUS_CODING DTNA MODERATE|MISSENSE|Cat/Tat|H403Y|567|DTNA|protein_coding|CODING|ENST00000348997|exon_18_32418709_32418801 . . . 0/1:99:255,0,255 18 32418752 rs139872140 C T NON_SYNONYMOUS_CODING DTNA MODERATE|MISSENSE|Cat/Tat|H406Y|570|DTNA|protein_coding|CODING|ENST00000269191|exon_18_32418709_32418801 . . . 0/1:99:255,0,255 18 32418752 rs139872140 C T NON_SYNONYMOUS_CODING DTNA MODERATE|MISSENSE|Cat/Tat|H406Y|743|DTNA|protein_coding|CODING|ENST00000399113|exon_18_32418709_32418801 . . . 0/1:99:255,0,255 18 32418752 rs139872140 C T NON_SYNONYMOUS_CODING DTNA MODERATE|MISSENSE|Cat/Tat|H406Y|743|DTNA|protein_coding|CODING|ENST00000399121|exon_18_32418709_32418801 . . . 0/1:99:255,0,255 18 32418752 rs139872140 C T NON_SYNONYMOUS_CODING DTNA MODERATE|MISSENSE|Cat/Tat|H406Y|743|DTNA|protein_coding|CODING|ENST00000444659|exon_18_32418709_32418801 . . . 0/1:99:255,0,255 18 32418752 rs139872140 C T NON_SYNONYMOUS_CODING DTNA MODERATE|MISSENSE|Cat/Tat|H407Y|744|DTNA|protein_coding|CODING|ENST00000269190|exon_18_32418709_32418801 . . . 0/1:99:255,0,255 18 33719409 rs74586912 G T NON_SYNONYMOUS_CODING ELP2 MODERATE|MISSENSE|cGa/cTa|R158L|821|ELP2|protein_coding|CODING|ENST00000350494|exon_18_33719382_33719576 . . . 0/1:99:255,0,255 18 33719409 rs74586912 G T NON_SYNONYMOUS_CODING ELP2 MODERATE|MISSENSE|cGa/cTa|R184L|891|ELP2|protein_coding|CODING|ENST00000442325|exon_18_33719382_33719576 . . . 0/1:99:255,0,255 18 33837020 rs143831554 C T NON_SYNONYMOUS_CODING MOCOS MODERATE|MISSENSE|Cgg/Tgg|R752W|888|MOCOS|protein_coding|CODING|ENST00000261326|exon_18_33836931_33837036 . 0/1:99:255,0,226 . . 18 43310415 rs2298720 G A NON_SYNONYMOUS_CODING SLC14A1 MODERATE|MISSENSE|Gaa/Aaa|E100K|445|SLC14A1|protein_coding|CODING|ENST00000415427|exon_18_43310265_43310436 0/1:99:255,0,215 . . . 18 43310415 rs2298720 G A NON_SYNONYMOUS_CODING SLC14A1 MODERATE|MISSENSE|Gaa/Aaa|E100K|445|SLC14A1|protein_coding|CODING|ENST00000436407|exon_18_43310265_43310436 0/1:99:255,0,215 . . . 18 43310415 rs2298720 G A NON_SYNONYMOUS_CODING SLC14A1 MODERATE|MISSENSE|Gaa/Aaa|E44K|389|SLC14A1|protein_coding|CODING|ENST00000321925|exon_18_43310265_43310436 0/1:99:255,0,215 . . . 18 43316449 rs2298719 A G NON_SYNONYMOUS_CODING SLC14A1 MODERATE|MISSENSE|Atg/Gtg|M167V|389|SLC14A1|protein_coding|CODING|ENST00000321925|exon_18_43316421_43316613 0/1:99:255,0,255 . . . 18 43316449 rs2298719 A G NON_SYNONYMOUS_CODING SLC14A1 MODERATE|MISSENSE|Atg/Gtg|M223V|445|SLC14A1|protein_coding|CODING|ENST00000415427|exon_18_43316421_43316613 0/1:99:255,0,255 . . . 18 43316449 rs2298719 A G NON_SYNONYMOUS_CODING SLC14A1 MODERATE|MISSENSE|Atg/Gtg|M223V|445|SLC14A1|protein_coding|CODING|ENST00000436407|exon_18_43316421_43316613 0/1:99:255,0,255 . . . 18 43316449 rs2298719 A G NON_SYNONYMOUS_CODING SLC14A1 MODERATE|MISSENSE|Atg/Gtg|M35V|257|SLC14A1|protein_coding|CODING|ENST00000535474|exon_18_43316421_43316613 0/1:99:255,0,255 . . . 18 43316449 rs2298719 A G NON_SYNONYMOUS_CODING SLC14A1 MODERATE|MISSENSE|Atg/Gtg|M59V|281|SLC14A1|protein_coding|CODING|ENST00000502059|exon_18_43316421_43316613 0/1:99:255,0,255 . . . 18 43316449 rs2298719 A G NON_SYNONYMOUS_CODING SLC14A1 MODERATE|MISSENSE|Atg/Gtg|M62V|284|SLC14A1|protein_coding|CODING|ENST00000402943|exon_18_43316421_43316613 0/1:99:255,0,255 . . . 18 44143153 rs36086089 C T NON_SYNONYMOUS_CODING LOXHD1 MODERATE|MISSENSE|Gtg/Atg|V547M|1533|LOXHD1|protein_coding|CODING|ENST00000335730|exon_18_44143028_44143188 0/1:99:255,0,209 . . . 18 44143153 rs36086089 C T NON_SYNONYMOUS_CODING LOXHD1 MODERATE|MISSENSE|Gtg/Atg|V547M|1947|LOXHD1|protein_coding|CODING|ENST00000398722|exon_18_44143028_44143188 0/1:99:255,0,209 . . . 18 44143153 rs36086089 C T NON_SYNONYMOUS_CODING LOXHD1 MODERATE|MISSENSE|Gtg/Atg|V825M|2211|LOXHD1|protein_coding|CODING|ENST00000536736|exon_18_44143028_44143188 0/1:99:255,0,209 . . . 18 44561619 rs61738602 G C NON_SYNONYMOUS_CODING TCEB3B MODERATE|MISSENSE|aCt/aGt|T6S|753|TCEB3B|protein_coding|CODING|ENST00000332567|exon_18_44558943_44561988 . 0/1:99:239,0,243 . 0/1:99:181,0,218 18 46163049 rs2277712 C T NON_SYNONYMOUS_CODING CTIF MODERATE|MISSENSE|cCa/cTa|P34L|648|CTIF|protein_coding|CODING|ENST00000420275|exon_18_46162985_46163056 0/1:99:232,0,231 . 0/1:97:255,0,94 . 18 46163049 rs2277712 C T NON_SYNONYMOUS_CODING CTIF MODERATE|MISSENSE|cCa/cTa|P82L|598|CTIF|protein_coding|CODING|ENST00000256413|exon_18_46162985_46163056 0/1:99:232,0,231 . 0/1:97:255,0,94 . 18 46163049 rs2277712 C T NON_SYNONYMOUS_CODING CTIF MODERATE|MISSENSE|cCa/cTa|P82L|600|CTIF|protein_coding|CODING|ENST00000382998|exon_18_46162985_46163056 0/1:99:232,0,231 . 0/1:97:255,0,94 . 18 47363963 rs112417235 T C NON_SYNONYMOUS_CODING MYO5B MODERATE|MISSENSE|Atg/Gtg|M1688V|1848|MYO5B|protein_coding|CODING|ENST00000285039|exon_18_47363887_47364172 . . 0/1:99:234,0,255 . 18 47363963 rs112417235 T C NON_SYNONYMOUS_CODING MYO5B MODERATE|MISSENSE|Atg/Gtg|M803V|963|MYO5B|protein_coding|CODING|ENST00000324581|exon_18_47363887_47364172 . . 0/1:99:234,0,255 . 18 47511113 rs17659179 C A NON_SYNONYMOUS_CODING MYO5B MODERATE|MISSENSE|aaG/aaT|K306N|720|MYO5B|protein_coding|CODING|ENST00000356732|exon_18_47511088_47511195 . . . 0/1:99:218,0,252 18 47511113 rs17659179 C A NON_SYNONYMOUS_CODING MYO5B MODERATE|MISSENSE|aaG/aaT|K307N|1848|MYO5B|protein_coding|CODING|ENST00000285039|exon_18_47511088_47511195 . . . 0/1:99:218,0,252 18 48190497 . C T NON_SYNONYMOUS_CODING MAPK4 MODERATE|MISSENSE|Cgc/Tgc|R57C|587|MAPK4|protein_coding|CODING|ENST00000400384|exon_18_48189459_48190874 0/1:51:219,0,48 . . . 18 48458662 rs649224 G A NON_SYNONYMOUS_CODING ME2 MODERATE|MISSENSE|gGg/gAg|G450E|479|ME2|protein_coding|CODING|ENST00000382927|exon_18_48458628_48458730 0/1:99:255,0,190 . . 0/1:99:197,0,255 18 48458662 rs649224 G A NON_SYNONYMOUS_CODING ME2 MODERATE|MISSENSE|gGg/gAg|G450E|584|ME2|protein_coding|CODING|ENST00000321341|exon_18_48458628_48458730 0/1:99:255,0,190 . . 0/1:99:197,0,255 18 51855721 rs2917782 C T NON_SYNONYMOUS_CODING STARD6 MODERATE|MISSENSE|Gaa/Aaa|E159K|220|STARD6|protein_coding|CODING|ENST00000307844|exon_18_51855717_51855810 . . 0/1:99:255,0,255 . 18 51888169 rs1657907 G C NON_SYNONYMOUS_CODING C18orf54 MODERATE|MISSENSE|cGa/cCa|R147P|372|C18orf54|protein_coding|CODING|ENST00000300091|exon_18_51888013_51888318 . . 0/1:99:255,0,234 . 18 51888169 rs1657907 G C NON_SYNONYMOUS_CODING C18orf54 MODERATE|MISSENSE|cGa/cCa|R147P|533|C18orf54|protein_coding|CODING|ENST00000382911|exon_18_51888013_51888801 . . 0/1:99:255,0,234 . 18 55322502 rs12968116 C T NON_SYNONYMOUS_CODING ATP8B1 MODERATE|MISSENSE|cGa/cAa|R952Q|1251|ATP8B1|protein_coding|CODING|ENST00000283684|exon_18_55322426_55322649 . . . 0/1:99:255,0,174 18 55322502 rs12968116 C T NON_SYNONYMOUS_CODING ATP8B1 MODERATE|MISSENSE|cGa/cAa|R952Q|1251|ATP8B1|protein_coding|CODING|ENST00000536015|exon_18_55322426_55322649 . . . 0/1:99:255,0,174 18 55336626 rs35470719 A G NON_SYNONYMOUS_CODING ATP8B1 MODERATE|MISSENSE|aTg/aCg|M674T|1251|ATP8B1|protein_coding|CODING|ENST00000283684|exon_18_55336550_55336714 0/1:99:255,0,255 . . . 18 55336626 rs35470719 A G NON_SYNONYMOUS_CODING ATP8B1 MODERATE|MISSENSE|aTg/aCg|M674T|1251|ATP8B1|protein_coding|CODING|ENST00000536015|exon_18_55336550_55336714 0/1:99:255,0,255 . . . 18 55342156 rs3745078 T C NON_SYNONYMOUS_CODING ATP8B1 MODERATE|MISSENSE|Atc/Gtc|I577V|1251|ATP8B1|protein_coding|CODING|ENST00000283684|exon_18_55342066_55342254 0/1:99:255,0,212 . . . 18 55342156 rs3745078 T C NON_SYNONYMOUS_CODING ATP8B1 MODERATE|MISSENSE|Atc/Gtc|I577V|1251|ATP8B1|protein_coding|CODING|ENST00000536015|exon_18_55342066_55342254 0/1:99:255,0,212 . . . 18 56367823 rs74847855 A G NON_SYNONYMOUS_CODING MALT1 MODERATE|MISSENSE|Aga/Gga|R217G|813|MALT1|protein_coding|CODING|ENST00000345724|exon_18_56367673_56367823 . . . 1/1:99:255,111,0 18 56367823 rs74847855 A G NON_SYNONYMOUS_CODING MALT1 MODERATE|MISSENSE|Aga/Gga|R217G|824|MALT1|protein_coding|CODING|ENST00000348428|exon_18_56367673_56367823 . . . 1/1:99:255,111,0 18 56964093 rs144069269 C T NON_SYNONYMOUS_CODING CPLX4 MODERATE|MISSENSE|cGg/cAg|R107Q|160|CPLX4|protein_coding|CODING|ENST00000299721|exon_18_56962634_56964157 0/1:99:255,0,255 . . . 18 59780393 rs3862712 T A NON_SYNONYMOUS_CODING PIGN MODERATE|MISSENSE|Ata/Tta|I470L|931|PIGN|protein_coding|CODING|ENST00000357637|exon_18_59780367_59780549 0/1:99:255,0,255 . 0/1:99:255,0,255 0/1:99:233,0,255 18 59780393 rs3862712 T A NON_SYNONYMOUS_CODING PIGN MODERATE|MISSENSE|Ata/Tta|I470L|931|PIGN|protein_coding|CODING|ENST00000400334|exon_18_59780367_59780549 0/1:99:255,0,255 . 0/1:99:255,0,255 0/1:99:233,0,255 18 59821843 rs17069506 T C NON_SYNONYMOUS_CODING PIGN MODERATE|MISSENSE|Aaa/Gaa|K162E|931|PIGN|protein_coding|CODING|ENST00000357637|exon_18_59821778_59821884 0/1:99:255,0,255 . . 0/1:99:255,0,255 18 59821843 rs17069506 T C NON_SYNONYMOUS_CODING PIGN MODERATE|MISSENSE|Aaa/Gaa|K162E|931|PIGN|protein_coding|CODING|ENST00000400334|exon_18_59821778_59821884 0/1:99:255,0,255 . . 0/1:99:255,0,255 18 59992547 rs7238731 G A NON_SYNONYMOUS_CODING TNFRSF11A MODERATE|MISSENSE|Gcc/Acc|A10T|321|TNFRSF11A|protein_coding|CODING|ENST00000382790|exon_18_59992520_59992660 . 0/1:49:83,0,46 . . 18 61160320 rs2289520 G C NON_SYNONYMOUS_CODING SERPINB5 MODERATE|MISSENSE|Gtc/Ctc|V187L|375|SERPINB5|protein_coding|CODING|ENST00000382771|exon_18_61160186_61160328 0/1:99:255,0,255 . . 0/1:99:255,0,255 18 61323012 rs3180227 C G NON_SYNONYMOUS_CODING SERPINB3 MODERATE|MISSENSE|gGa/gCa|G299A|338|SERPINB3|protein_coding|CODING|ENST00000332821|exon_18_61322432_61323295 0/1:99:255,0,255 0/1:99:255,0,255 1/1:99:255,81,0 . 18 61323012 rs3180227 C G NON_SYNONYMOUS_CODING SERPINB3 MODERATE|MISSENSE|gGa/gCa|G351A|390|SERPINB3|protein_coding|CODING|ENST00000283752|exon_18_61322431_61323295 0/1:99:255,0,255 0/1:99:255,0,255 1/1:99:255,81,0 . 18 61387277 rs61740078 C T NON_SYNONYMOUS_CODING SERPINB11 MODERATE|MISSENSE|aCa/aTa|T169I|392|SERPINB11|protein_coding|CODING|ENST00000544088|exon_18_61387247_61387389 . . 0/1:99:255,0,255 . 18 61390515 rs34811964 T C NON_SYNONYMOUS_CODING SERPINB11 MODERATE|MISSENSE|aTc/aCc|I152T|190|SERPINB11|protein_coding|CODING|ENST00000538847|exon_18_61390229_61391123 . . 0/1:99:229,0,168 . 18 61390515 rs34811964 T C NON_SYNONYMOUS_CODING SERPINB11 MODERATE|MISSENSE|aTc/aCc|I179T|217|SERPINB11|protein_coding|CODING|ENST00000536691|exon_18_61390229_61390804 . . 0/1:99:229,0,168 . 18 61390515 rs34811964 T C NON_SYNONYMOUS_CODING SERPINB11 MODERATE|MISSENSE|aTc/aCc|I354T|392|SERPINB11|protein_coding|CODING|ENST00000544088|exon_18_61390229_61391123 . . 0/1:99:229,0,168 . 18 61471529 rs61735186 C T NON_SYNONYMOUS_CODING SERPINB7 MODERATE|MISSENSE|aCc/aTc|T251I|363|SERPINB7|protein_coding|CODING|ENST00000540675|exon_18_61471471_61471909 . 0/1:99:255,0,255 . . 18 61471529 rs61735186 C T NON_SYNONYMOUS_CODING SERPINB7 MODERATE|MISSENSE|aCc/aTc|T268I|380|SERPINB7|protein_coding|CODING|ENST00000336429|exon_18_61471471_61472603 . 0/1:99:255,0,255 . . 18 61471529 rs61735186 C T NON_SYNONYMOUS_CODING SERPINB7 MODERATE|MISSENSE|aCc/aTc|T268I|380|SERPINB7|protein_coding|CODING|ENST00000398019|exon_18_61471471_61472604 . 0/1:99:255,0,255 . . 18 61471529 rs61735186 C T NON_SYNONYMOUS_CODING SERPINB7 MODERATE|MISSENSE|aCc/aTc|T268I|380|SERPINB7|protein_coding|CODING|ENST00000546027|exon_18_61471471_61472169 . 0/1:99:255,0,255 . . 18 61602360 rs35453062 G A NON_SYNONYMOUS_CODING SERPINB10 MODERATE|MISSENSE|Gat/Aat|D360N|397|SERPINB10|protein_coding|CODING|ENST00000238508|exon_18_61602072_61603345 . 0/1:99:255,0,255 . . 18 64172434 rs55874520 C G NON_SYNONYMOUS_CODING CDH19 MODERATE|MISSENSE|gGg/gCg|G645A|772|CDH19|protein_coding|CODING|ENST00000262150|exon_18_64168320_64172539 . 0/1:99:255,0,255 . . 18 66382200 rs117138050 A G NON_SYNONYMOUS_CODING TMX3 MODERATE|MISSENSE|Tgg/Cgg|W7R|195|TMX3|protein_coding|CODING|ENST00000562706|exon_18_66382173_66382295 0/1:99:201,0,171 . . . 18 66382200 rs117138050 A G NON_SYNONYMOUS_CODING TMX3 MODERATE|MISSENSE|Tgg/Cgg|W7R|197|TMX3|protein_coding|CODING|ENST00000443099|exon_18_66382173_66382294 0/1:99:201,0,171 . . . 18 66382200 rs117138050 A G NON_SYNONYMOUS_CODING TMX3 MODERATE|MISSENSE|Tgg/Cgg|W7R|417|TMX3|protein_coding|CODING|ENST00000544714|exon_18_66382173_66382362 0/1:99:201,0,171 . . . 18 66382200 rs117138050 A G NON_SYNONYMOUS_CODING TMX3 MODERATE|MISSENSE|Tgg/Cgg|W7R|454|TMX3|protein_coding|CODING|ENST00000299608|exon_18_66382173_66382535 0/1:99:201,0,171 . . . 18 67715328 . T C NON_SYNONYMOUS_CODING RTTN MODERATE|MISSENSE|aAa/aGa|K1807R|2226|RTTN|protein_coding|CODING|ENST00000255674|exon_18_67715207_67715424 . . 0/1:99:255,0,255 . 18 67721492 rs34717557 G C NON_SYNONYMOUS_CODING RTTN MODERATE|MISSENSE|tCt/tGt|S1687C|2226|RTTN|protein_coding|CODING|ENST00000255674|exon_18_67721367_67721520 . 0/1:99:255,0,255 . . 18 67836115 rs34353615 G T NON_SYNONYMOUS_CODING RTTN MODERATE|MISSENSE|aaC/aaA|N555K|1593|RTTN|protein_coding|CODING|ENST00000437017|exon_18_67836091_67836303 . 0/1:99:246,0,255 . . 18 67836115 rs34353615 G T NON_SYNONYMOUS_CODING RTTN MODERATE|MISSENSE|aaC/aaA|N555K|2226|RTTN|protein_coding|CODING|ENST00000255674|exon_18_67836091_67836303 . 0/1:99:246,0,255 . . 18 67836115 rs34353615 G T NON_SYNONYMOUS_CODING RTTN MODERATE|MISSENSE|aaC/aaA|N555K|879|RTTN|protein_coding|CODING|ENST00000454359|exon_18_67836091_67836303 . 0/1:99:246,0,255 . . 18 72201918 rs11151964 G A NON_SYNONYMOUS_CODING CNDP1 MODERATE|MISSENSE|Ggg/Agg|G6R|507|CNDP1|protein_coding|CODING|ENST00000358821|exon_18_72201675_72201926 . . . 0/1:99:185,0,204 18 72244208 rs62621182 G A NON_SYNONYMOUS_CODING CNDP1 MODERATE|MISSENSE|Gac/Aac|D316N|507|CNDP1|protein_coding|CODING|ENST00000358821|exon_18_72244104_72244264 0/1:99:255,0,255 . . . 18 72345890 rs948615 A C NON_SYNONYMOUS_CODING ZNF407 MODERATE|MISSENSE|aAt/aCt|N972T|1660|ZNF407|protein_coding|CODING|ENST00000309902|exon_18_72342919_72347662 . . . 0/1:99:255,0,255 18 72345890 rs948615 A C NON_SYNONYMOUS_CODING ZNF407 MODERATE|MISSENSE|aAt/aCt|N972T|2248|ZNF407|protein_coding|CODING|ENST00000299687|exon_18_72342919_72347662 . . . 0/1:99:255,0,255 18 72346255 . A T NON_SYNONYMOUS_CODING ZNF407 MODERATE|MISSENSE|Atc/Ttc|I1094F|1660|ZNF407|protein_coding|CODING|ENST00000309902|exon_18_72342919_72347662 0/1:99:216,0,255 . . . 18 72346255 . A T NON_SYNONYMOUS_CODING ZNF407 MODERATE|MISSENSE|Atc/Ttc|I1094F|2248|ZNF407|protein_coding|CODING|ENST00000299687|exon_18_72342919_72347662 0/1:99:216,0,255 . . . 18 74090864 rs140499406 A G NON_SYNONYMOUS_CODING ZNF516 MODERATE|MISSENSE|Ttt/Ctt|F1069L|1163|ZNF516|protein_coding|CODING|ENST00000443185|exon_18_74090810_74090963 . . 0/1:99:218,0,141 . 18 74091710 . C T NON_SYNONYMOUS_CODING ZNF516 MODERATE|MISSENSE|tGc/tAc|C787Y|1163|ZNF516|protein_coding|CODING|ENST00000443185|exon_18_74090965_74092259 0/1:99:191,0,168 . . . 18 74592121 rs139451924 C T NON_SYNONYMOUS_CODING ZNF236 MODERATE|MISSENSE|tCg/tTg|S344L|1557|ZNF236|protein_coding|CODING|ENST00000320610|exon_18_74592069_74592272 . . 0/1:99:255,0,219 . 18 74592121 rs139451924 C T NON_SYNONYMOUS_CODING ZNF236 MODERATE|MISSENSE|tCg/tTg|S344L|1558|ZNF236|protein_coding|CODING|ENST00000543926|exon_18_74592069_74592272 . . 0/1:99:255,0,219 . 18 74592121 rs139451924 C T NON_SYNONYMOUS_CODING ZNF236 MODERATE|MISSENSE|tCg/tTg|S344L|1845|ZNF236|protein_coding|CODING|ENST00000253159|exon_18_74592069_74592272 . . 0/1:99:255,0,219 . 18 74691951 rs1048871 T C NON_SYNONYMOUS_CODING MBP MODERATE|MISSENSE|Act/Gct|T91A|108|MBP|protein_coding|CODING|ENST00000527041|exon_18_74691697_74691994 . . . 0/1:99:253,0,238 18 74696703 rs78986303 C T NON_SYNONYMOUS_CODING MBP MODERATE|MISSENSE|Gag/Aag|E167K|171|MBP|protein_coding|CODING|ENST00000397868|exon_18_74696684_74696850 . 0/1:99:247,0,255 . . 18 74980601 rs77169818 A T NON_SYNONYMOUS_CODING GALR1 MODERATE|MISSENSE|Atc/Ttc|I265F|349|GALR1|protein_coding|CODING|ENST00000299727|exon_18_74980541_74980858 . 1/1:99:255,72,0 . . 18 76754759 . G A NON_SYNONYMOUS_CODING SALL3 MODERATE|MISSENSE|gGc/gAc|G655D|960|SALL3|protein_coding|CODING|ENST00000543056|exon_18_76753057_76754905 0/1:99:128,0,118 . . . 18 76754759 . G A NON_SYNONYMOUS_CODING SALL3 MODERATE|MISSENSE|gGc/gAc|G923D|1228|SALL3|protein_coding|CODING|ENST00000536229|exon_18_76752074_76754905 0/1:99:128,0,118 . . . 18 76754759 . G A NON_SYNONYMOUS_CODING SALL3 MODERATE|MISSENSE|gGc/gAc|G923D|1300|SALL3|protein_coding|CODING|ENST00000537592|exon_18_76752074_76755462 0/1:99:128,0,118 . . . 18 77156348 . G A NON_SYNONYMOUS_CODING NFATC1 MODERATE|MISSENSE|Gaa/Aaa|E42K|713|NFATC1|protein_coding|CODING|ENST00000542384|exon_18_77156225_77156351 . . . 0/1:99:100,0,206 18 77156348 . G A NON_SYNONYMOUS_CODING NFATC1 MODERATE|MISSENSE|Gaa/Aaa|E42K|825|NFATC1|protein_coding|CODING|ENST00000253506|exon_18_77155856_77156351 . . . 0/1:99:100,0,206 18 77156348 . G A NON_SYNONYMOUS_CODING NFATC1 MODERATE|MISSENSE|Gaa/Aaa|E42K|943|NFATC1|protein_coding|CODING|ENST00000318065|exon_18_77155772_77156351 . . . 0/1:99:100,0,206 18 77455227 rs115044443 C T NON_SYNONYMOUS_CODING CTDP1 MODERATE|MISSENSE|gCg/gTg|A106V|867|CTDP1|protein_coding|CODING|ENST00000075430|exon_18_77455225_77455308 . . 0/1:99:136,0,255 . 18 77455227 rs115044443 C T NON_SYNONYMOUS_CODING CTDP1 MODERATE|MISSENSE|gCg/gTg|A106V|961|CTDP1|protein_coding|CODING|ENST00000299543|exon_18_77455225_77455308 . . 0/1:99:136,0,255 . 18 77473127 rs2279103 C T NON_SYNONYMOUS_CODING CTDP1 MODERATE|MISSENSE|aCg/aTg|T340M|867|CTDP1|protein_coding|CODING|ENST00000075430|exon_18_77472972_77473138 0/1:99:159,0,255 0/1:99:255,0,205 . 1/1:99:255,99,0 18 77473127 rs2279103 C T NON_SYNONYMOUS_CODING CTDP1 MODERATE|MISSENSE|aCg/aTg|T340M|961|CTDP1|protein_coding|CODING|ENST00000299543|exon_18_77472972_77473138 0/1:99:159,0,255 0/1:99:255,0,205 . 1/1:99:255,99,0 18 77475187 . TGGAGGAGGAGGAGGAGGAGGA TGGAGGAGGAGGAGGAGGAGGAGGA CODON_CHANGE_PLUS_CODON_INSERTION CTDP1 MODERATE||gac/gaGGAc|D583ED|867|CTDP1|protein_coding|CODING|ENST00000075430|exon_18_77474491_77475528 0/1:99:251,0,255 . . . 18 77475187 . TGGAGGAGGAGGAGGAGGAGGA TGGAGGAGGAGGAGGAGGAGGAGGA CODON_CHANGE_PLUS_CODON_INSERTION CTDP1 MODERATE||gac/gaGGAc|D583ED|961|CTDP1|protein_coding|CODING|ENST00000299543|exon_18_77474491_77475528 0/1:99:251,0,255 . . . 18 77623691 . GGGCGGCGGCGGCGG GGGCGGCGGCGGCGGCGG CODON_CHANGE_PLUS_CODON_INSERTION KCNG2 MODERATE||ggg/ggCGGg|G13GG|466|KCNG2|protein_coding|CODING|ENST00000316249|exon_18_77623668_77624291 1/1:21:172,12,0 . 1/1:39:210,21,0 . 18 77894359 . G A NON_SYNONYMOUS_CODING ADNP2 MODERATE|MISSENSE|Gtc/Atc|V355I|1131|ADNP2|protein_coding|CODING|ENST00000262198|exon_18_77893495_77898234 . . 0/1:99:255,0,237 . 19 362338 rs145779146 G A NON_SYNONYMOUS_CODING THEG MODERATE|MISSENSE|cCc/cTc|P112L|137|THEG|protein_coding|CODING|ENST00000530711|exon_19_362058_362426 . . . 0/1:99:154,0,203 19 372661 rs2303810 C A NON_SYNONYMOUS_CODING THEG MODERATE|MISSENSE|aGa/aTa|R178I|355|THEG|protein_coding|CODING|ENST00000346878|exon_19_372631_372700 0/1:99:206,0,153 . . . 19 372661 rs2303810 C A NON_SYNONYMOUS_CODING THEG MODERATE|MISSENSE|aGa/aTa|R202I|379|THEG|protein_coding|CODING|ENST00000342640|exon_19_372631_372700 0/1:99:206,0,153 . . . 19 372689 rs35119230 G A NON_SYNONYMOUS_CODING THEG MODERATE|MISSENSE|Cgc/Tgc|R169C|355|THEG|protein_coding|CODING|ENST00000346878|exon_19_372631_372700 . 0/1:99:225,0,255 0/1:99:214,0,189 . 19 372689 rs35119230 G A NON_SYNONYMOUS_CODING THEG MODERATE|MISSENSE|Cgc/Tgc|R193C|379|THEG|protein_coding|CODING|ENST00000342640|exon_19_372631_372700 . 0/1:99:225,0,255 0/1:99:214,0,189 . 19 408325 rs184993923 G A NON_SYNONYMOUS_CODING C2CD4C MODERATE|MISSENSE|Cgg/Tgg|R13W|421|C2CD4C|protein_coding|CODING|ENST00000332235|exon_19_405443_408401 . . . 0/1:30:222,0,27 19 548612 rs114537924 G A NON_SYNONYMOUS_CODING GZMM MODERATE|MISSENSE|Gca/Aca|A95T|257|GZMM|protein_coding|CODING|ENST00000264553|exon_19_548542_548677 . . 0/1:28:171,0,25 . 19 757241 rs45477999 G A NON_SYNONYMOUS_CODING C19orf21 MODERATE|MISSENSE|Gcc/Acc|A99T|679|C19orf21|protein_coding|CODING|ENST00000215582|exon_19_756890_758726 . 0/1:99:248,0,255 . . 19 757412 rs3746173 A G NON_SYNONYMOUS_CODING C19orf21 MODERATE|MISSENSE|Agc/Ggc|S156G|679|C19orf21|protein_coding|CODING|ENST00000215582|exon_19_756890_758726 . . 0/1:99:255,0,174 . 19 758421 rs112598403 C T NON_SYNONYMOUS_CODING C19orf21 MODERATE|MISSENSE|cCg/cTg|P492L|679|C19orf21|protein_coding|CODING|ENST00000215582|exon_19_756890_758726 0/1:99:198,0,232 . . . 19 830820 rs28626600 G A NON_SYNONYMOUS_CODING AZU1 MODERATE|MISSENSE|cGc/cAc|R158H|251|AZU1|protein_coding|CODING|ENST00000233997|exon_19_830708_830941 . . . 0/1:99:209,0,177 19 830820 rs28626600 G A NON_SYNONYMOUS_CODING AZU1 MODERATE|MISSENSE|cGc/cAc|R172H|226|AZU1|protein_coding|CODING|ENST00000334630|exon_19_830708_832017 . . . 0/1:99:209,0,177 19 863220 rs2230216 C G NON_SYNONYMOUS_CODING CFD MODERATE|MISSENSE|atC/atG|I248M|253|CFD|protein_coding|CODING|ENST00000327726|exon_19_863092_863606 0/1:66:86,0,63 . . . 19 868108 rs147510499 C G NON_SYNONYMOUS_CODING MED16 MODERATE|MISSENSE|cGt/cCt|R876P|877|MED16|protein_coding|CODING|ENST00000325464|exon_19_867964_868251 . 0/1:99:224,0,178 . . 19 872987 rs78093369 G C NON_SYNONYMOUS_CODING MED16 MODERATE|MISSENSE|tCc/tGc|S661C|662|MED16|protein_coding|CODING|ENST00000424039|exon_19_872980_873063 1/1:10:54,6,0 . . . 19 900951 rs78580402 A G NON_SYNONYMOUS_CODING R3HDM4 MODERATE|MISSENSE|gTc/gCc|V118A|268|R3HDM4|protein_coding|CODING|ENST00000361574|exon_19_900829_900952 0/1:19:114,0,16 . . . 19 901511 rs200727752 C T NON_SYNONYMOUS_CODING R3HDM4 MODERATE|MISSENSE|Ggc/Agc|G88S|268|R3HDM4|protein_coding|CODING|ENST00000361574|exon_19_901422_901546 . 0/1:65:159,0,62 . . 19 966584 rs145850291 C T NON_SYNONYMOUS_CODING ARID3A MODERATE|MISSENSE|gCc/gTc|A404V|593|ARID3A|protein_coding|CODING|ENST00000263620|exon_19_966572_966868 . . 0/1:99:227,0,255 . 19 984537 rs61732720 A G NON_SYNONYMOUS_CODING WDR18 MODERATE|MISSENSE|Atc/Gtc|I62V|432|WDR18|protein_coding|CODING|ENST00000251289|exon_19_984328_984563 . 0/1:99:248,0,172 . . 19 991129 rs11538683 G A NON_SYNONYMOUS_CODING WDR18 MODERATE|MISSENSE|Gtc/Atc|V264I|432|WDR18|protein_coding|CODING|ENST00000251289|exon_19_991081_991145 . 0/1:99:141,0,171 . . 19 1003292 rs149087926 G A NON_SYNONYMOUS_CODING GRIN3B MODERATE|MISSENSE|cGg/cAg|R197Q|1043|GRIN3B|protein_coding|CODING|ENST00000234389|exon_19_1003129_1003721 . 0/1:99:233,0,135 . . 19 1003439 rs55646937 G A NON_SYNONYMOUS_CODING GRIN3B MODERATE|MISSENSE|cGt/cAt|R246H|1043|GRIN3B|protein_coding|CODING|ENST00000234389|exon_19_1003129_1003721 . 0/1:99:231,0,145 . . 19 1009185 . GAGCAGCAGCAGCAGCAGCAG GAGCAGCAGCAGCAGCAG CODON_DELETION GRIN3B MODERATE||cag/-|Q912-|1043|GRIN3B|protein_coding|CODING|ENST00000234389|exon_19_1009172_1009731 . 0/1:99:134,0,243 . . 19 1043103 rs72973581 G A NON_SYNONYMOUS_CODING ABCA7 MODERATE|MISSENSE|Ggc/Agc|G215S|2146|ABCA7|protein_coding|CODING|ENST00000263094|exon_19_1043040_1043250 . . 0/1:99:215,0,255 . 19 1043103 rs72973581 G A NON_SYNONYMOUS_CODING ABCA7 MODERATE|MISSENSE|Ggc/Agc|G215S|2146|ABCA7|protein_coding|CODING|ENST00000433129|exon_19_1043040_1043250 . . 0/1:99:215,0,255 . 19 1231118 . G A NON_SYNONYMOUS_CODING C19orf26 MODERATE|MISSENSE|cCg/cTg|P373L|447|C19orf26|protein_coding|CODING|ENST00000215376|exon_19_1229947_1231274 . 0/1:99:176,0,202 . . 19 1231118 . G A NON_SYNONYMOUS_CODING C19orf26 MODERATE|MISSENSE|cCg/cTg|P399L|725|C19orf26|protein_coding|CODING|ENST00000382477|exon_19_1231100_1231274 . 0/1:99:176,0,202 . . 19 1255631 rs142253784 C T NON_SYNONYMOUS_CODING MIDN MODERATE|MISSENSE|aCg/aTg|T356M|468|MIDN|protein_coding|CODING|ENST00000300952|exon_19_1255421_1255693 . . 0/1:99:209,0,253 . 19 1278861 rs12460305 C T NON_SYNONYMOUS_CODING AC004258.1 MODERATE|MISSENSE|Ctc/Ttc|L18F|132|AC004258.1|protein_coding|CODING|ENST00000416408|exon_19_1278776_1279226 . . 0/1:99:212,0,250 . 19 1469530 rs166452 C G NON_SYNONYMOUS_CODING APC2 MODERATE|MISSENSE|aCc/aGc|T1803S|2029|APC2|protein_coding|CODING|ENST00000238483|exon_19_1465154_1473243 . 0/1:45:116,0,42 . . 19 1469530 rs166452 C G NON_SYNONYMOUS_CODING APC2 MODERATE|MISSENSE|aCc/aGc|T2077S|2303|APC2|protein_coding|CODING|ENST00000233607|exon_19_1465154_1473243 . 0/1:45:116,0,42 . . 19 1469530 rs166452 C G NON_SYNONYMOUS_CODING APC2 MODERATE|MISSENSE|aCc/aGc|T2077S|2303|APC2|protein_coding|CODING|ENST00000535453|exon_19_1465154_1473237 . 0/1:45:116,0,42 . . 19 1806667 rs45574836 C T NON_SYNONYMOUS_CODING ATP8B3 MODERATE|MISSENSE|Gcc/Acc|A160T|1263|ATP8B3|protein_coding|CODING|ENST00000525591|exon_19_1806627_1806688 . . . 0/1:99:165,0,191 19 1806667 rs45574836 C T NON_SYNONYMOUS_CODING ATP8B3 MODERATE|MISSENSE|Gcc/Acc|A160T|562|ATP8B3|protein_coding|CODING|ENST00000526092|exon_19_1806627_1806688 . . . 0/1:99:165,0,191 19 1806667 rs45574836 C T NON_SYNONYMOUS_CODING ATP8B3 MODERATE|MISSENSE|Gcc/Acc|A160T|578|ATP8B3|protein_coding|CODING|ENST00000382339|exon_19_1806627_1806688 . . . 0/1:99:165,0,191 19 1806667 rs45574836 C T NON_SYNONYMOUS_CODING ATP8B3 MODERATE|MISSENSE|Gcc/Acc|A213T|1300|ATP8B3|protein_coding|CODING|ENST00000310127|exon_19_1806627_1806688 . . . 0/1:99:165,0,191 19 1806667 rs45574836 C T NON_SYNONYMOUS_CODING ATP8B3 MODERATE|MISSENSE|Gcc/Acc|A213T|1310|ATP8B3|protein_coding|CODING|ENST00000539485|exon_19_1806627_1806688 . . . 0/1:99:165,0,191 19 1819125 rs2396359 T C NON_SYNONYMOUS_CODING REXO1 MODERATE|MISSENSE|Agt/Ggt|S158G|493|REXO1|protein_coding|CODING|ENST00000543452|exon_19_1819017_1819130 . . . 0/1:99:188,0,136 19 1819125 rs2396359 T C NON_SYNONYMOUS_CODING REXO1 MODERATE|MISSENSE|Agt/Ggt|S886G|1221|REXO1|protein_coding|CODING|ENST00000170168|exon_19_1819017_1819130 . . . 0/1:99:188,0,136 19 1825927 rs149465929 TCTC T CODON_DELETION REXO1 MODERATE||gag/-|E642-|1221|REXO1|protein_coding|CODING|ENST00000170168|exon_19_1825838_1825942 . . . 0/1:99:255,0,255 19 1912594 rs139117131 C T NON_SYNONYMOUS_CODING ADAT3 MODERATE|MISSENSE|aCg/aTg|T167M|351|ADAT3|protein_coding|CODING|ENST00000329478|exon_19_1911889_1913444 . . 0/1:68:65,0,196 . 19 2050823 rs3746101 G T NON_SYNONYMOUS_CODING MKNK2 MODERATE|MISSENSE|Cag/Aag|Q10K|414|MKNK2|protein_coding|CODING|ENST00000309340|exon_19_2050800_2050946 0/1:99:170,0,112 . . . 19 2050823 rs3746101 G T NON_SYNONYMOUS_CODING MKNK2 MODERATE|MISSENSE|Cag/Aag|Q10K|465|MKNK2|protein_coding|CODING|ENST00000250896|exon_19_2050800_2050946 0/1:99:170,0,112 . . . 19 2097641 rs115783655 T C NON_SYNONYMOUS_CODING IZUMO4 MODERATE|MISSENSE|cTa/cCa|L143P|157|IZUMO4|protein_coding|CODING|ENST00000395296|exon_19_2097584_2097687 . . . 0/1:99:150,0,145 19 2351591 rs200572908 C T NON_SYNONYMOUS_CODING AC004410.1 MODERATE|MISSENSE|gCg/gTg|A504V|510|AC004410.1|protein_coding|CODING|ENST00000452401|exon_19_2351432_2351655 . . 0/1:99:185,0,117 . 19 2425196 rs7247162 G A NON_SYNONYMOUS_CODING TMPRSS9 MODERATE|MISSENSE|Gag/Aag|E938K|1059|TMPRSS9|protein_coding|CODING|ENST00000332578|exon_19_2425000_2425265 . . . 0/1:81:78,0,99 19 2538758 . ATATTTTTCTT AT CODON_DELETION AC104537.1 MODERATE||atttttctt/-|IFL113-|120|AC104537.1|protein_coding|CODING|ENST00000222301|exon_19_2538645_2538786 . . . 0/1:68:65,0,255 19 2877365 rs10421121 C T NON_SYNONYMOUS_CODING ZNF556 MODERATE|MISSENSE|Cgc/Tgc|R137C|456|ZNF556|protein_coding|CODING|ENST00000307635|exon_19_2877271_2878501 0/1:99:255,0,255 . . . 19 2877663 rs148749321 G A NON_SYNONYMOUS_CODING ZNF556 MODERATE|MISSENSE|tGt/tAt|C236Y|456|ZNF556|protein_coding|CODING|ENST00000307635|exon_19_2877271_2878501 . 0/1:99:250,0,255 . . 19 2917178 rs61742111 G A NON_SYNONYMOUS_CODING ZNF57 MODERATE|MISSENSE|Gga/Aga|G155R|523|ZNF57|protein_coding|CODING|ENST00000523428|exon_19_2916922_2918344 0/1:99:243,0,255 . . . 19 2917178 rs61742111 G A NON_SYNONYMOUS_CODING ZNF57 MODERATE|MISSENSE|Gga/Aga|G187R|555|ZNF57|protein_coding|CODING|ENST00000306908|exon_19_2916922_2918474 0/1:99:243,0,255 . . . 19 2917178 rs61742111 G A NON_SYNONYMOUS_CODING ZNF57 MODERATE|MISSENSE|Gga/Aga|G189R|557|ZNF57|protein_coding|CODING|ENST00000395204|exon_19_2916922_2918465 0/1:99:243,0,255 . . . 19 2917509 rs61754927 G A NON_SYNONYMOUS_CODING ZNF57 MODERATE|MISSENSE|aGa/aAa|R265K|523|ZNF57|protein_coding|CODING|ENST00000523428|exon_19_2916922_2918344 0/1:99:245,0,199 . . . 19 2917509 rs61754927 G A NON_SYNONYMOUS_CODING ZNF57 MODERATE|MISSENSE|aGa/aAa|R297K|555|ZNF57|protein_coding|CODING|ENST00000306908|exon_19_2916922_2918474 0/1:99:245,0,199 . . . 19 2917509 rs61754927 G A NON_SYNONYMOUS_CODING ZNF57 MODERATE|MISSENSE|aGa/aAa|R299K|557|ZNF57|protein_coding|CODING|ENST00000395204|exon_19_2916922_2918465 0/1:99:245,0,199 . . . 19 2994035 . T C NON_SYNONYMOUS_CODING TLE6 MODERATE|MISSENSE|gTt/gCt|V396A|449|TLE6|protein_coding|CODING|ENST00000452088|exon_19_2994017_2994093 . . . 0/1:99:110,0,199 19 2994035 . T C NON_SYNONYMOUS_CODING TLE6 MODERATE|MISSENSE|gTt/gCt|V519A|572|TLE6|protein_coding|CODING|ENST00000246112|exon_19_2994017_2994093 . . . 0/1:99:110,0,199 19 2994035 . T C NON_SYNONYMOUS_CODING TLE6 MODERATE|MISSENSE|gTt/gCt|V519A|572|TLE6|protein_coding|CODING|ENST00000447920|exon_19_2994017_2994093 . . . 0/1:99:110,0,199 19 3013678 rs201296186 C T NON_SYNONYMOUS_CODING TLE2 MODERATE|MISSENSE|Gag/Aag|E166K|621|TLE2|protein_coding|CODING|ENST00000443826|exon_19_3013667_3013816 . 0/1:99:238,0,255 . . 19 3013678 rs201296186 C T NON_SYNONYMOUS_CODING TLE2 MODERATE|MISSENSE|Gag/Aag|E166K|621|TLE2|protein_coding|CODING|ENST00000455444|exon_19_3013667_3013816 . 0/1:99:238,0,255 . . 19 3013678 rs201296186 C T NON_SYNONYMOUS_CODING TLE2 MODERATE|MISSENSE|Gag/Aag|E196K|359|TLE2|protein_coding|CODING|ENST00000439015|exon_19_3013667_3013816 . 0/1:99:238,0,255 . . 19 3013678 rs201296186 C T NON_SYNONYMOUS_CODING TLE2 MODERATE|MISSENSE|Gag/Aag|E282K|686|TLE2|protein_coding|CODING|ENST00000450017|exon_19_3013667_3013816 . 0/1:99:238,0,255 . . 19 3013678 rs201296186 C T NON_SYNONYMOUS_CODING TLE2 MODERATE|MISSENSE|Gag/Aag|E288K|743|TLE2|protein_coding|CODING|ENST00000262953|exon_19_3013667_3013816 . 0/1:99:238,0,255 . . 19 3013678 rs201296186 C T NON_SYNONYMOUS_CODING TLE2 MODERATE|MISSENSE|Gag/Aag|E302K|706|TLE2|protein_coding|CODING|ENST00000426948|exon_19_3013667_3013816 . 0/1:99:238,0,255 . . 19 3207646 rs2288949 A G NON_SYNONYMOUS_CODING NCLN MODERATE|MISSENSE|aAg/aGg|K551R|563|NCLN|protein_coding|CODING|ENST00000246117|exon_19_3207627_3209572 0/1:99:222,0,191 . . . 19 3548231 rs2240751 A G NON_SYNONYMOUS_CODING MFSD12 MODERATE|MISSENSE|Tac/Cac|Y182H|473|MFSD12|protein_coding|CODING|ENST00000389395|exon_19_3548121_3548265 0/1:99:203,0,255 . . . 19 3548231 rs2240751 A G NON_SYNONYMOUS_CODING MFSD12 MODERATE|MISSENSE|Tac/Cac|Y182H|480|MFSD12|protein_coding|CODING|ENST00000355415|exon_19_3548121_3548265 0/1:99:203,0,255 . . . 19 3548231 rs2240751 A G NON_SYNONYMOUS_CODING MFSD12 MODERATE|MISSENSE|Tac/Cac|Y182H|538|MFSD12|protein_coding|CODING|ENST00000398558|exon_19_3548121_3548265 0/1:99:203,0,255 . . . 19 3612341 rs45525640 C T NON_SYNONYMOUS_CODING C19orf29-AS1 MODERATE|MISSENSE|Cgc/Tgc|R205C|391|C19orf29-AS1|protein_coding|CODING|ENST00000447295|exon_19_3611566_3612411 . . . 0/1:99:144,0,125 19 3760240 . C T NON_SYNONYMOUS_CODING APBA3 MODERATE|MISSENSE|cGa/cAa|R8Q|575|APBA3|protein_coding|CODING|ENST00000316757|exon_19_3759687_3760299 . . . 0/1:99:203,0,213 19 3771586 rs76076446 G A NON_SYNONYMOUS_CODING RAX2 MODERATE|MISSENSE|cCg/cTg|P52L|184|RAX2|protein_coding|CODING|ENST00000395106|exon_19_3771525_3771749 . . . 1/1:99:255,69,0 19 3771586 rs76076446 G A NON_SYNONYMOUS_CODING RAX2 MODERATE|MISSENSE|cCg/cTg|P98L|230|RAX2|protein_coding|CODING|ENST00000555633|exon_19_3771525_3772008 . . . 1/1:99:255,69,0 19 3811298 rs202237601 G T NON_SYNONYMOUS_CODING ZFR2 MODERATE|MISSENSE|gCc/gAc|A770D|939|ZFR2|protein_coding|CODING|ENST00000262961|exon_19_3811270_3811364 . . 0/1:99:203,0,227 . 19 3831709 rs2240234 C T NON_SYNONYMOUS_CODING ZFR2 MODERATE|MISSENSE|Gtg/Atg|V183M|366|ZFR2|protein_coding|CODING|ENST00000438164|exon_19_3831658_3831876 . 0/1:99:225,0,147 . . 19 3831709 rs2240234 C T NON_SYNONYMOUS_CODING ZFR2 MODERATE|MISSENSE|Gtg/Atg|V183M|939|ZFR2|protein_coding|CODING|ENST00000262961|exon_19_3831658_3831876 . 0/1:99:225,0,147 . . 19 4159747 rs140312652 G A NON_SYNONYMOUS_CODING CREB3L3 MODERATE|MISSENSE|Gac/Aac|D182N|419|CREB3L3|protein_coding|CODING|ENST00000381943|exon_19_4159661_4159779 . . 0/1:99:176,0,201 . 19 4159747 rs140312652 G A NON_SYNONYMOUS_CODING CREB3L3 MODERATE|MISSENSE|Gac/Aac|D182N|461|CREB3L3|protein_coding|CODING|ENST00000078445|exon_19_4159661_4159779 . . 0/1:99:176,0,201 . 19 4199944 rs61743270 G A NON_SYNONYMOUS_CODING ANKRD24 MODERATE|MISSENSE|Gcc/Acc|A156T|1236|ANKRD24|protein_coding|CODING|ENST00000262970|exon_19_4199872_4200002 . . 0/1:99:231,0,144 . 19 4199944 rs61743270 G A NON_SYNONYMOUS_CODING ANKRD24 MODERATE|MISSENSE|Gcc/Acc|A66T|1146|ANKRD24|protein_coding|CODING|ENST00000318934|exon_19_4199872_4200002 . . 0/1:99:231,0,144 . 19 4217090 . A G NON_SYNONYMOUS_CODING ANKRD24 MODERATE|MISSENSE|Aca/Gca|T645A|1146|ANKRD24|protein_coding|CODING|ENST00000318934|exon_19_4216547_4218160 0/1:99:148,0,128 . . . 19 4217090 . A G NON_SYNONYMOUS_CODING ANKRD24 MODERATE|MISSENSE|Aca/Gca|T735A|1236|ANKRD24|protein_coding|CODING|ENST00000262970|exon_19_4216547_4218160 0/1:99:148,0,128 . . . 19 4222722 . C T NON_SYNONYMOUS_CODING ANKRD24 MODERATE|MISSENSE|cCg/cTg|P1076L|1146|ANKRD24|protein_coding|CODING|ENST00000318934|exon_19_4222667_4222792 0/1:99:207,0,191 . . . 19 4222722 . C T NON_SYNONYMOUS_CODING ANKRD24 MODERATE|MISSENSE|cCg/cTg|P1166L|1236|ANKRD24|protein_coding|CODING|ENST00000262970|exon_19_4222667_4222792 0/1:99:207,0,191 . . . 19 4283059 rs2287714 G A NON_SYNONYMOUS_CODING SHD MODERATE|MISSENSE|Ggc/Agc|G138S|340|SHD|protein_coding|CODING|ENST00000543264|exon_19_4283051_4283239 0/1:99:255,0,207 . . . 19 4283059 rs2287714 G A NON_SYNONYMOUS_CODING SHD MODERATE|MISSENSE|Ggc/Agc|G53S|255|SHD|protein_coding|CODING|ENST00000221852|exon_19_4283051_4283239 0/1:99:255,0,207 . . . 19 4354080 rs117613418 C T NON_SYNONYMOUS_CODING MPND MODERATE|MISSENSE|Cgg/Tgg|R235W|451|MPND|protein_coding|CODING|ENST00000359935|exon_19_4354042_4354126 . . . 0/1:99:198,0,179 19 4354080 rs117613418 C T NON_SYNONYMOUS_CODING MPND MODERATE|MISSENSE|Cgg/Tgg|R235W|471|MPND|protein_coding|CODING|ENST00000262966|exon_19_4354042_4354126 . . . 0/1:99:198,0,179 19 4493979 rs150536528 C T NON_SYNONYMOUS_CODING AC011498.1 MODERATE|MISSENSE|gCg/gTg|A266V|507|AC011498.1|protein_coding|CODING|ENST00000398364|exon_19_4493979_4494054 . . . 0/1:99:190,0,142 19 4493979 rs150536528 C T NON_SYNONYMOUS_CODING AC011498.1 MODERATE|MISSENSE|gCg/gTg|A280V|676|AC011498.1|protein_coding|CODING|ENST00000301284|exon_19_4493979_4494054 . . . 0/1:99:190,0,142 19 4511376 rs200819033 C A NON_SYNONYMOUS_CODING PLIN4 MODERATE|MISSENSE|Ggc/Tgc|G852C|1357|PLIN4|protein_coding|CODING|ENST00000301286|exon_19_4510458_4513716 . 0/1:83:80,0,245 . . 19 4556968 . G C NON_SYNONYMOUS_CODING SEMA6B MODERATE|MISSENSE|Cag/Gag|Q122E|682|SEMA6B|protein_coding|CODING|ENST00000301292|exon_19_4556963_4557025 0/1:82:97,0,79 . . . 19 4556968 . G C NON_SYNONYMOUS_CODING SEMA6B MODERATE|MISSENSE|Cag/Gag|Q122E|888|SEMA6B|protein_coding|CODING|ENST00000301293|exon_19_4556963_4557025 0/1:82:97,0,79 . . . 19 4695485 rs148018996 C G NON_SYNONYMOUS_CODING DPP9 MODERATE|MISSENSE|Gag/Cag|E361Q|833|DPP9|protein_coding|CODING|ENST00000381797|exon_19_4695390_4695567 0/1:99:225,0,172 . . . 19 4695485 rs148018996 C G NON_SYNONYMOUS_CODING DPP9 MODERATE|MISSENSE|Gag/Cag|E420Q|892|DPP9|protein_coding|CODING|ENST00000262960|exon_19_4695390_4695567 0/1:99:225,0,172 . . . 19 4695485 rs148018996 C G NON_SYNONYMOUS_CODING DPP9 MODERATE|MISSENSE|Gag/Cag|E499Q|971|DPP9|protein_coding|CODING|ENST00000357909|exon_19_4695390_4695567 0/1:99:225,0,172 . . . 19 4817288 . AAGGAGGAGGAGGAGGAGGAGGAGG AAGGAGGAGGAGGAGGAGGAGGAGGAGG CODON_INSERTION TICAM1 MODERATE||tcc/tcCCTc|S359SL|712|TICAM1|protein_coding|CODING|ENST00000248244|exon_19_4815939_4818528 . 0/1:99:142,0,112 . . 19 4818211 rs201782115 G C NON_SYNONYMOUS_CODING TICAM1 MODERATE|MISSENSE|tCt/tGt|S60C|712|TICAM1|protein_coding|CODING|ENST00000248244|exon_19_4815939_4818528 0/1:99:173,0,255 . . . 19 5455543 rs144624511 G C NON_SYNONYMOUS_CODING ZNRF4 MODERATE|MISSENSE|aGc/aCc|S14T|429|ZNRF4|protein_coding|CODING|ENST00000222033|exon_19_5455426_5456867 . . . 0/1:99:188,0,196 19 5744499 rs57680462 T C NON_SYNONYMOUS_CODING TMEM146 MODERATE|MISSENSE|aTg/aCg|M138T|627|TMEM146|protein_coding|CODING|ENST00000394548|exon_19_5744438_5744521 . . 0/1:99:214,0,233 . 19 5744499 rs57680462 T C NON_SYNONYMOUS_CODING TMEM146 MODERATE|MISSENSE|aTg/aCg|M212T|798|TMEM146|protein_coding|CODING|ENST00000381624|exon_19_5744438_5744521 . . 0/1:99:214,0,233 . 19 5749171 rs72983139 A G NON_SYNONYMOUS_CODING TMEM146 MODERATE|MISSENSE|Atc/Gtc|I248V|627|TMEM146|protein_coding|CODING|ENST00000394548|exon_19_5749112_5749194 . . 0/1:99:255,0,255 . 19 5749171 rs72983139 A G NON_SYNONYMOUS_CODING TMEM146 MODERATE|MISSENSE|Atc/Gtc|I322V|798|TMEM146|protein_coding|CODING|ENST00000381624|exon_19_5749112_5749194 . . 0/1:99:255,0,255 . 19 5772295 rs12985299 G C NON_SYNONYMOUS_CODING TMEM146 MODERATE|MISSENSE|aGc/aCc|S310T|359|TMEM146|protein_coding|CODING|ENST00000381614|exon_19_5772104_5772446 0/1:99:145,0,118 . . 0/1:99:238,0,102 19 5772295 rs12985299 G C NON_SYNONYMOUS_CODING TMEM146 MODERATE|MISSENSE|aGc/aCc|S578T|627|TMEM146|protein_coding|CODING|ENST00000394548|exon_19_5772104_5772479 0/1:99:145,0,118 . . 0/1:99:238,0,102 19 5772325 rs146614906 G A NON_SYNONYMOUS_CODING TMEM146 MODERATE|MISSENSE|tGc/tAc|C320Y|359|TMEM146|protein_coding|CODING|ENST00000381614|exon_19_5772104_5772446 0/1:70:67,0,151 0/1:50:100,0,47 . . 19 5772325 rs146614906 G A NON_SYNONYMOUS_CODING TMEM146 MODERATE|MISSENSE|tGc/tAc|C588Y|627|TMEM146|protein_coding|CODING|ENST00000394548|exon_19_5772104_5772479 0/1:70:67,0,151 0/1:50:100,0,47 . . 19 5772339 rs111994811 C T NON_SYNONYMOUS_CODING TMEM146 MODERATE|MISSENSE|Cgc/Tgc|R325C|359|TMEM146|protein_coding|CODING|ENST00000381614|exon_19_5772104_5772446 0/1:61:58,0,146 0/1:99:134,0,105 . . 19 5772339 rs111994811 C T NON_SYNONYMOUS_CODING TMEM146 MODERATE|MISSENSE|Cgc/Tgc|R593C|627|TMEM146|protein_coding|CODING|ENST00000394548|exon_19_5772104_5772479 0/1:61:58,0,146 0/1:99:134,0,105 . . 19 5772376 . T C NON_SYNONYMOUS_CODING TMEM146 MODERATE|MISSENSE|aTt/aCt|I337T|359|TMEM146|protein_coding|CODING|ENST00000381614|exon_19_5772104_5772446 0/1:82:79,0,94 . . . 19 5772376 . T C NON_SYNONYMOUS_CODING TMEM146 MODERATE|MISSENSE|aTt/aCt|I605T|627|TMEM146|protein_coding|CODING|ENST00000394548|exon_19_5772104_5772479 0/1:82:79,0,94 . . . 19 5772897 rs78536254 C T NON_SYNONYMOUS_CODING TMEM146 MODERATE|MISSENSE|tCg/tTg|S290L|467|TMEM146|protein_coding|CODING|ENST00000381613|exon_19_5772799_5772976 0/1:99:214,0,172 0/1:99:255,0,255 . . 19 5772897 rs78536254 C T NON_SYNONYMOUS_CODING TMEM146 MODERATE|MISSENSE|tCg/tTg|S621L|798|TMEM146|protein_coding|CODING|ENST00000381624|exon_19_5772799_5772976 0/1:99:214,0,172 0/1:99:255,0,255 . . 19 5831672 rs61147939 G C NON_SYNONYMOUS_CODING FUT6 MODERATE|MISSENSE|Cgg/Ggg|R303G|359|FUT6|protein_coding|CODING|ENST00000286955|exon_19_5830785_5832590 0/1:99:144,0,169 0/1:99:103,0,174 . . 19 5831672 rs61147939 G C NON_SYNONYMOUS_CODING FUT6 MODERATE|MISSENSE|Cgg/Ggg|R303G|359|FUT6|protein_coding|CODING|ENST00000318336|exon_19_5830637_5832590 0/1:99:144,0,169 0/1:99:103,0,174 . . 19 5831672 rs61147939 G C NON_SYNONYMOUS_CODING FUT6 MODERATE|MISSENSE|Cgg/Ggg|R303G|359|FUT6|protein_coding|CODING|ENST00000524754|exon_19_5830621_5832590 0/1:99:144,0,169 0/1:99:103,0,174 . . 19 5831672 rs61147939 G C NON_SYNONYMOUS_CODING FUT6 MODERATE|MISSENSE|Cgg/Ggg|R303G|359|FUT6|protein_coding|CODING|ENST00000527106|exon_19_5830637_5832590 0/1:99:144,0,169 0/1:99:103,0,174 . . 19 5831672 rs61147939 G C NON_SYNONYMOUS_CODING FUT6 MODERATE|MISSENSE|Cgg/Ggg|R303G|365|FUT6|protein_coding|CODING|ENST00000341530|exon_19_5831536_5832578 0/1:99:144,0,169 0/1:99:103,0,174 . . 19 5908969 rs10404195 G A NON_SYNONYMOUS_CODING VMAC MODERATE|MISSENSE|cGc/cAc|R109H|169|VMAC|protein_coding|CODING|ENST00000339485|exon_19_5908835_5910261 . . 0/1:99:181,0,240 . 19 5914605 rs7249419 A G NON_SYNONYMOUS_CODING CAPS MODERATE|MISSENSE|Aga/Gga|R172G|322|CAPS|protein_coding|CODING|ENST00000394521|exon_19_5914574_5914751 . . 0/1:99:183,0,210 . 19 5914605 rs7249419 A G NON_SYNONYMOUS_CODING CAPS MODERATE|MISSENSE|Aga/Gga|R39G|162|CAPS|protein_coding|CODING|ENST00000452990|exon_19_5914574_5914751 . . 0/1:99:183,0,210 . 19 5914605 rs7249419 A G NON_SYNONYMOUS_CODING CAPS MODERATE|MISSENSE|Aga/Gga|R39G|189|CAPS|protein_coding|CODING|ENST00000222125|exon_19_5914574_5914751 . . 0/1:99:183,0,210 . 19 6430106 rs34488963 C T NON_SYNONYMOUS_CODING SLC25A41 MODERATE|MISSENSE|Ggc/Agc|G144S|370|SLC25A41|protein_coding|CODING|ENST00000321510|exon_19_6430020_6430172 . . 0/1:99:119,0,186 . 19 6456019 rs10424879 T C NON_SYNONYMOUS_CODING SLC25A23 MODERATE|MISSENSE|Agt/Ggt|S190G|482|SLC25A23|protein_coding|CODING|ENST00000264088|exon_19_6455963_6456103 . . 0/1:99:100,0,234 . 19 6456021 rs10418566 C A NON_SYNONYMOUS_CODING SLC25A23 MODERATE|MISSENSE|cGc/cTc|R189L|482|SLC25A23|protein_coding|CODING|ENST00000264088|exon_19_6455963_6456103 . . 0/1:99:117,0,214 . 19 6531171 rs2234174 G A NON_SYNONYMOUS_CODING TNFSF9 MODERATE|MISSENSE|Gct/Act|A42T|254|TNFSF9|protein_coding|CODING|ENST00000245817|exon_19_6531010_6531314 . . 0/1:99:163,0,183 . 19 6713262 rs1047286 G A NON_SYNONYMOUS_CODING C3 MODERATE|MISSENSE|cCc/cTc|P314L|1663|C3|protein_coding|CODING|ENST00000245907|exon_19_6713200_6713326 . . . 0/1:99:249,0,180 19 6718387 rs2230199 G C NON_SYNONYMOUS_CODING C3 MODERATE|MISSENSE|Cgc/Ggc|R102G|1663|C3|protein_coding|CODING|ENST00000245907|exon_19_6718258_6718423 . . . 0/1:99:233,0,145 19 6928269 rs140779395 A T NON_SYNONYMOUS_CODING EMR1 MODERATE|MISSENSE|gAg/gTg|E727V|867|EMR1|protein_coding|CODING|ENST00000381404|exon_19_6928156_6928321 . 0/1:99:197,0,216 . . 19 6937607 . A G NON_SYNONYMOUS_CODING EMR1 MODERATE|MISSENSE|cAg/cGg|Q691R|709|EMR1|protein_coding|CODING|ENST00000450315|exon_19_6937555_6937659 0/1:99:154,0,220 . . . 19 6937607 . A G NON_SYNONYMOUS_CODING EMR1 MODERATE|MISSENSE|cAg/cGg|Q727R|745|EMR1|protein_coding|CODING|ENST00000381407|exon_19_6937555_6937659 0/1:99:154,0,220 . . . 19 6937607 . A G NON_SYNONYMOUS_CODING EMR1 MODERATE|MISSENSE|cAg/cGg|Q803R|820|EMR1|protein_coding|CODING|ENST00000543519|exon_19_6937555_6937659 0/1:99:154,0,220 . . . 19 6937607 . A G NON_SYNONYMOUS_CODING EMR1 MODERATE|MISSENSE|cAg/cGg|Q803R|821|EMR1|protein_coding|CODING|ENST00000250572|exon_19_6937555_6937659 0/1:99:154,0,220 . . . 19 6937607 . A G NON_SYNONYMOUS_CODING EMR1 MODERATE|MISSENSE|cAg/cGg|Q849R|867|EMR1|protein_coding|CODING|ENST00000381404|exon_19_6937555_6937659 0/1:99:154,0,220 . . . 19 6937607 . A G NON_SYNONYMOUS_CODING EMR1 MODERATE|MISSENSE|cAg/cGg|Q868R|886|EMR1|protein_coding|CODING|ENST00000312053|exon_19_6937555_6937659 0/1:99:154,0,220 . . . 19 7011878 . C A NON_SYNONYMOUS_CODING AC025278.1 MODERATE|MISSENSE|tCc/tAc|S21Y|81|AC025278.1|protein_coding|CODING|ENST00000377296|exon_19_7011514_7013338 . . 0/1:61:58,0,255 . 19 7056553 rs199680919 C T NON_SYNONYMOUS_CODING MBD3L3 MODERATE|MISSENSE|cGc/cAc|R136H|208|MBD3L3|protein_coding|CODING|ENST00000333843|exon_19_7056220_7056914 0/1:55:52,0,165 . . . 19 7584223 rs11555037 A G NON_SYNONYMOUS_CODING ZNF358 MODERATE|MISSENSE|aAt/aGt|N32S|568|ZNF358|protein_coding|CODING|ENST00000361576|exon_19_7584091_7585912 . . . 0/1:99:134,0,153 19 7584223 rs11555037 A G NON_SYNONYMOUS_CODING ZNF358 MODERATE|MISSENSE|aAt/aGt|N32S|568|ZNF358|protein_coding|CODING|ENST00000394341|exon_19_7584088_7585911 . . . 0/1:99:134,0,153 19 7754194 rs8102872 C T NON_SYNONYMOUS_CODING FCER2 MODERATE|MISSENSE|cGg/cAg|R283Q|320|FCER2|protein_coding|CODING|ENST00000360067|exon_19_7753644_7754316 . . 0/1:99:236,0,229 . 19 7754194 rs8102872 C T NON_SYNONYMOUS_CODING FCER2 MODERATE|MISSENSE|cGg/cAg|R284Q|321|FCER2|protein_coding|CODING|ENST00000346664|exon_19_7753644_7754316 . . 0/1:99:236,0,229 . 19 7754294 rs200736793 T G NON_SYNONYMOUS_CODING FCER2 MODERATE|MISSENSE|Acc/Ccc|T250P|320|FCER2|protein_coding|CODING|ENST00000360067|exon_19_7753644_7754316 . . 0/1:57:54,0,162 . 19 7754294 rs200736793 T G NON_SYNONYMOUS_CODING FCER2 MODERATE|MISSENSE|Acc/Ccc|T251P|321|FCER2|protein_coding|CODING|ENST00000346664|exon_19_7753644_7754316 . . 0/1:57:54,0,162 . 19 7763248 rs2228137 G A NON_SYNONYMOUS_CODING FCER2 MODERATE|MISSENSE|Cgg/Tgg|R61W|320|FCER2|protein_coding|CODING|ENST00000360067|exon_19_7763242_7763295 0/1:80:249,0,77 . 0/1:99:98,0,226 . 19 7763248 rs2228137 G A NON_SYNONYMOUS_CODING FCER2 MODERATE|MISSENSE|Cgg/Tgg|R62W|321|FCER2|protein_coding|CODING|ENST00000346664|exon_19_7763242_7763295 0/1:80:249,0,77 . 0/1:99:98,0,226 . 19 8003021 rs117812409 T C NON_SYNONYMOUS_CODING TIMM44 MODERATE|MISSENSE|aAa/aGa|K68R|452|TIMM44|protein_coding|CODING|ENST00000270538|exon_19_8002912_8003082 . . . 0/1:99:255,0,132 19 8118000 rs960173 A G NON_SYNONYMOUS_CODING CCL25 MODERATE|MISSENSE|Acc/Gcc|T23A|149|CCL25|protein_coding|CODING|ENST00000253451|exon_19_8117884_8118006 . . . 0/1:95:150,0,92 19 8118000 rs960173 A G NON_SYNONYMOUS_CODING CCL25 MODERATE|MISSENSE|Acc/Gcc|T23A|150|CCL25|protein_coding|CODING|ENST00000390669|exon_19_8117884_8118006 . . . 0/1:95:150,0,92 19 8118000 rs960173 A G NON_SYNONYMOUS_CODING CCL25 MODERATE|MISSENSE|Acc/Gcc|T23A|84|CCL25|protein_coding|CODING|ENST00000315626|exon_19_8117884_8118006 . . . 0/1:95:150,0,92 19 8168545 rs33967815 C T NON_SYNONYMOUS_CODING FBN3 MODERATE|MISSENSE|Ggc/Agc|G1614S|2809|FBN3|protein_coding|CODING|ENST00000270509|exon_19_8168446_8168571 . 0/1:99:238,0,213 0/1:99:255,0,186 0/1:99:206,0,189 19 8203392 rs61729623 G C NON_SYNONYMOUS_CODING FBN3 MODERATE|MISSENSE|Ctc/Gtc|L308V|2809|FBN3|protein_coding|CODING|ENST00000270509|exon_19_8203296_8203448 0/1:99:130,0,239 . . . 19 8212229 rs142752628 G A NON_SYNONYMOUS_CODING FBN3 MODERATE|MISSENSE|Cgg/Tgg|R46W|2809|FBN3|protein_coding|CODING|ENST00000270509|exon_19_8212198_8212650 . . 0/1:99:184,0,219 . 19 8326866 rs17160348 C T NON_SYNONYMOUS_CODING CERS4 MODERATE|MISSENSE|gCg/gTg|A265V|306|CERS4|protein_coding|CODING|ENST00000559336|exon_19_8326814_8327305 . . . 0/1:99:211,0,232 19 8326866 rs17160348 C T NON_SYNONYMOUS_CODING CERS4 MODERATE|MISSENSE|gCg/gTg|A302V|343|CERS4|protein_coding|CODING|ENST00000558331|exon_19_8326814_8327294 . . . 0/1:99:211,0,232 19 8326866 rs17160348 C T NON_SYNONYMOUS_CODING CERS4 MODERATE|MISSENSE|gCg/gTg|A353V|394|CERS4|protein_coding|CODING|ENST00000251363|exon_19_8326814_8327277 . . . 0/1:99:211,0,232 19 8326866 rs17160348 C T NON_SYNONYMOUS_CODING CERS4 MODERATE|MISSENSE|gCg/gTg|A353V|394|CERS4|protein_coding|CODING|ENST00000559450|exon_19_8326814_8327025 . . . 0/1:99:211,0,232 19 8326944 rs17160349 G A NON_SYNONYMOUS_CODING CERS4 MODERATE|MISSENSE|cGg/cAg|R291Q|306|CERS4|protein_coding|CODING|ENST00000559336|exon_19_8326814_8327305 . . . 0/1:99:225,0,238 19 8326944 rs17160349 G A NON_SYNONYMOUS_CODING CERS4 MODERATE|MISSENSE|cGg/cAg|R328Q|343|CERS4|protein_coding|CODING|ENST00000558331|exon_19_8326814_8327294 . . . 0/1:99:225,0,238 19 8326944 rs17160349 G A NON_SYNONYMOUS_CODING CERS4 MODERATE|MISSENSE|cGg/cAg|R379Q|394|CERS4|protein_coding|CODING|ENST00000251363|exon_19_8326814_8327277 . . . 0/1:99:225,0,238 19 8326944 rs17160349 G A NON_SYNONYMOUS_CODING CERS4 MODERATE|MISSENSE|cGg/cAg|R379Q|394|CERS4|protein_coding|CODING|ENST00000559450|exon_19_8326814_8327025 . . . 0/1:99:225,0,238 19 8398975 rs2913955 C T NON_SYNONYMOUS_CODING KANK3 MODERATE|MISSENSE|Gcc/Acc|A485T|821|KANK3|protein_coding|CODING|ENST00000330915|exon_19_8398794_8399000 . 0/1:99:181,0,136 0/1:99:223,0,148 . 19 8399849 rs890850 C A NON_SYNONYMOUS_CODING KANK3 MODERATE|MISSENSE|Gac/Tac|D288Y|821|KANK3|protein_coding|CODING|ENST00000330915|exon_19_8399384_8400676 . 0/1:99:165,0,177 0/1:99:138,0,163 . 19 8575765 rs3111564 C G NON_SYNONYMOUS_CODING ZNF414 MODERATE|MISSENSE|Gcc/Ccc|A357P|390|ZNF414|protein_coding|CODING|ENST00000393927|exon_19_8575735_8575908 . . 0/1:66:63,0,112 . 19 8575894 . TC TCCCC CODON_CHANGE_PLUS_CODON_INSERTION ZNF414 MODERATE||ccg/cGGGcg|P313RA|390|ZNF414|protein_coding|CODING|ENST00000393927|exon_19_8575735_8575908 . . 0/1:40:62,0,37 . 19 8578000 rs1064010 G A NON_SYNONYMOUS_CODING ZNF414 MODERATE|MISSENSE|Cct/Tct|P77S|312|ZNF414|protein_coding|CODING|ENST00000255616|exon_19_8577913_8578225 1/1:99:255,78,0 0/1:99:153,0,242 0/1:99:255,0,238 . 19 8578000 rs1064010 G A NON_SYNONYMOUS_CODING ZNF414 MODERATE|MISSENSE|Cct/Tct|P77S|390|ZNF414|protein_coding|CODING|ENST00000393927|exon_19_8577913_8578225 1/1:99:255,78,0 0/1:99:153,0,242 0/1:99:255,0,238 . 19 8654445 rs200679441 G A NON_SYNONYMOUS_CODING ADAMTS10 MODERATE|MISSENSE|aCg/aTg|T396M|846|ADAMTS10|protein_coding|CODING|ENST00000393912|exon_19_8654336_8654469 . . 0/1:99:197,0,228 . 19 8654445 rs200679441 G A NON_SYNONYMOUS_CODING ADAMTS10 MODERATE|MISSENSE|aCg/aTg|T642M|1103|ADAMTS10|protein_coding|CODING|ENST00000270328|exon_19_8654336_8654469 . . 0/1:99:197,0,228 . 19 8973988 rs61745929 C T NON_SYNONYMOUS_CODING MUC16 MODERATE|MISSENSE|aGg/aAg|R14228K|14507|MUC16|protein_coding|CODING|ENST00000397910|exon_19_8973972_8974102 . . . 0/1:99:255,0,149 19 8973988 rs61745929 C T NON_SYNONYMOUS_CODING MUC16 MODERATE|MISSENSE|aGg/aAg|R869K|1148|MUC16|protein_coding|CODING|ENST00000380951|exon_19_8973972_8974102 . . . 0/1:99:255,0,149 19 9086308 . C T NON_SYNONYMOUS_CODING MUC16 MODERATE|MISSENSE|aGt/aAt|S1836N|14507|MUC16|protein_coding|CODING|ENST00000397910|exon_19_9082340_9092018 0/1:99:255,0,255 . . . 19 9346762 rs2015157 T G NON_SYNONYMOUS_CODING AC006271.2 MODERATE|MISSENSE|Tac/Gac|Y210D|225|AC006271.2|protein_coding|CODING|ENST00000344049|exon_19_9346135_9346812 1/1:99:255,81,0 . . . 19 9362138 rs180840288 G A NON_SYNONYMOUS_CODING OR7E24 MODERATE|MISSENSE|cGg/cAg|R140Q|339|OR7E24|protein_coding|CODING|ENST00000456448|exon_19_9361606_9362820 0/1:99:255,0,255 . . . 19 9362297 rs12980833 C T NON_SYNONYMOUS_CODING OR7E24 MODERATE|MISSENSE|tCt/tTt|S193F|339|OR7E24|protein_coding|CODING|ENST00000456448|exon_19_9361606_9362820 1/1:99:255,102,0 . . . 19 9449888 rs77267061 A G NON_SYNONYMOUS_CODING ZNF559 MODERATE|MISSENSE|gAt/gGt|D18G|538|ZNF559|protein_coding|CODING|ENST00000317221|exon_19_9449869_9449995 . 0/1:99:255,0,255 . . 19 9449888 rs77267061 A G NON_SYNONYMOUS_CODING ZNF559 MODERATE|MISSENSE|gAt/gGt|D18G|538|ZNF559|protein_coding|CODING|ENST00000393883|exon_19_9449869_9449995 . 0/1:99:255,0,255 . . 19 9804424 rs16981648 T G NON_SYNONYMOUS_CODING ZNF812 MODERATE|MISSENSE|Aaa/Caa|K63Q|454|ZNF812|protein_coding|CODING|ENST00000457674|exon_19_9804370_9804496 . . 0/1:99:255,0,255 . 19 9868278 rs10420364 T C NON_SYNONYMOUS_CODING ZNF846 MODERATE|MISSENSE|tAc/tGc|Y492C|533|ZNF846|protein_coding|CODING|ENST00000397902|exon_19_9868151_9869440 . . 0/1:99:197,0,251 1/1:99:255,58,0 19 9868404 rs10414485 C T NON_SYNONYMOUS_CODING ZNF846 MODERATE|MISSENSE|tGt/tAt|C450Y|533|ZNF846|protein_coding|CODING|ENST00000397902|exon_19_9868151_9869440 . . 0/1:99:255,0,192 1/1:99:255,99,0 19 10107344 . T A NON_SYNONYMOUS_CODING COL5A3 MODERATE|MISSENSE|Atc/Ttc|I429F|1745|COL5A3|protein_coding|CODING|ENST00000264828|exon_19_10107291_10107365 . 0/1:99:151,0,212 . . 19 10129552 rs1122206 C G NON_SYNONYMOUS_CODING RDH8 MODERATE|MISSENSE|caC/caG|H136Q|311|RDH8|protein_coding|CODING|ENST00000171214|exon_19_10129407_10129586 0/1:99:222,0,238 0/1:99:255,0,124 . . 19 10132000 rs77833898 G A NON_SYNONYMOUS_CODING RDH8 MODERATE|MISSENSE|atG/atA|M202I|311|RDH8|protein_coding|CODING|ENST00000171214|exon_19_10131931_10132114 0/1:99:189,0,255 . . . 19 10385540 rs5491 A T NON_SYNONYMOUS_CODING ICAM1 MODERATE|MISSENSE|aAg/aTg|K56M|532|ICAM1|protein_coding|CODING|ENST00000264832|exon_19_10385441_10385704 0/1:99:235,0,245 . . . 19 10415781 rs2291473 T C NON_SYNONYMOUS_CODING ZGLP1 MODERATE|MISSENSE|Att/Gtt|I184V|187|ZGLP1|protein_coding|CODING|ENST00000403352|exon_19_10415751_10415884 . . . 0/1:99:198,0,158 19 10415781 rs2291473 T C NON_SYNONYMOUS_CODING ZGLP1 MODERATE|MISSENSE|Att/Gtt|I268V|271|ZGLP1|protein_coding|CODING|ENST00000403903|exon_19_10415479_10415884 . . . 0/1:99:198,0,158 19 10426597 rs62640397 T C NON_SYNONYMOUS_CODING FDX1L MODERATE|MISSENSE|Aga/Gga|R26G|183|FDX1L|protein_coding|CODING|ENST00000393708|exon_19_10426528_10426691 0/1:99:198,0,230 . . . 19 10426597 rs62640397 T C NON_SYNONYMOUS_CODING FDX1L MODERATE|MISSENSE|Aga/Gga|R29G|145|FDX1L|protein_coding|CODING|ENST00000541276|exon_19_10426528_10426685 0/1:99:198,0,230 . . . 19 10446568 rs2304237 T C NON_SYNONYMOUS_CODING ICAM3 MODERATE|MISSENSE|gAt/gGt|D143G|547|ICAM3|protein_coding|CODING|ENST00000160262|exon_19_10446347_10446652 0/1:99:103,0,202 . . 0/1:99:158,0,199 19 10449358 rs7258015 T C NON_SYNONYMOUS_CODING ICAM3 MODERATE|MISSENSE|Agg/Ggg|R115G|547|ICAM3|protein_coding|CODING|ENST00000160262|exon_19_10449358_10449624 0/1:99:248,0,236 . . 0/1:99:227,0,146 19 10469975 rs12720356 A C NON_SYNONYMOUS_CODING TYK2 MODERATE|MISSENSE|aTc/aGc|I431S|934|TYK2|protein_coding|CODING|ENST00000543792|exon_19_10469851_10469978 . . . 0/1:99:190,0,206 19 10469975 rs12720356 A C NON_SYNONYMOUS_CODING TYK2 MODERATE|MISSENSE|aTc/aGc|I499S|1002|TYK2|protein_coding|CODING|ENST00000524462|exon_19_10469851_10469978 . . . 0/1:99:190,0,206 19 10469975 rs12720356 A C NON_SYNONYMOUS_CODING TYK2 MODERATE|MISSENSE|aTc/aGc|I684S|1187|TYK2|protein_coding|CODING|ENST00000264818|exon_19_10469851_10469978 . . . 0/1:99:190,0,206 19 10469975 rs12720356 A C NON_SYNONYMOUS_CODING TYK2 MODERATE|MISSENSE|aTc/aGc|I684S|1187|TYK2|protein_coding|CODING|ENST00000525621|exon_19_10469851_10469978 . . . 0/1:99:190,0,206 19 10469975 rs12720356 A C NON_SYNONYMOUS_CODING TYK2 MODERATE|MISSENSE|aTc/aGc|I684S|921|TYK2|protein_coding|CODING|ENST00000529370|exon_19_10469851_10469978 . . . 0/1:99:190,0,206 19 10479056 . C T NON_SYNONYMOUS_CODING TYK2 MODERATE|MISSENSE|Gat/Aat|D78N|117|TYK2|protein_coding|CODING|ENST00000531836|exon_19_10478971_10479094 . 0/1:99:255,0,192 . . 19 10479056 . C T NON_SYNONYMOUS_CODING TYK2 MODERATE|MISSENSE|Gat/Aat|D78N|1187|TYK2|protein_coding|CODING|ENST00000264818|exon_19_10478971_10479094 . 0/1:99:255,0,192 . . 19 10479056 . C T NON_SYNONYMOUS_CODING TYK2 MODERATE|MISSENSE|Gat/Aat|D78N|1187|TYK2|protein_coding|CODING|ENST00000525621|exon_19_10478971_10479094 . 0/1:99:255,0,192 . . 19 10479056 . C T NON_SYNONYMOUS_CODING TYK2 MODERATE|MISSENSE|Gat/Aat|D78N|921|TYK2|protein_coding|CODING|ENST00000529370|exon_19_10478971_10479094 . 0/1:99:255,0,192 . . 19 10479056 . C T NON_SYNONYMOUS_CODING TYK2 MODERATE|MISSENSE|cGa/cAa|R118Q|133|TYK2|protein_coding|CODING|ENST00000530829|exon_19_10479005_10479094 . 0/1:99:255,0,192 . . 19 10488926 rs55762744 C T NON_SYNONYMOUS_CODING TYK2 MODERATE|MISSENSE|Gct/Act|A53T|117|TYK2|protein_coding|CODING|ENST00000531836|exon_19_10488890_10489102 . . 0/1:99:193,0,115 . 19 10488926 rs55762744 C T NON_SYNONYMOUS_CODING TYK2 MODERATE|MISSENSE|Gct/Act|A53T|1187|TYK2|protein_coding|CODING|ENST00000264818|exon_19_10488890_10489082 . . 0/1:99:193,0,115 . 19 10488926 rs55762744 C T NON_SYNONYMOUS_CODING TYK2 MODERATE|MISSENSE|Gct/Act|A53T|1187|TYK2|protein_coding|CODING|ENST00000525621|exon_19_10488890_10489102 . . 0/1:99:193,0,115 . 19 10488926 rs55762744 C T NON_SYNONYMOUS_CODING TYK2 MODERATE|MISSENSE|Gct/Act|A53T|133|TYK2|protein_coding|CODING|ENST00000530829|exon_19_10488890_10489102 . . 0/1:99:193,0,115 . 19 10488926 rs55762744 C T NON_SYNONYMOUS_CODING TYK2 MODERATE|MISSENSE|Gct/Act|A53T|921|TYK2|protein_coding|CODING|ENST00000529370|exon_19_10488890_10489102 . . 0/1:99:193,0,115 . 19 10800167 . G C NON_SYNONYMOUS_CODING ILF3 MODERATE|MISSENSE|Gcc/Ccc|A719P|764|ILF3|protein_coding|CODING|ENST00000336059|exon_19_10800078_10800307 0/1:99:229,0,193 . . . 19 10961024 rs73009507 C G NON_SYNONYMOUS_CODING C19orf38 MODERATE|MISSENSE|Cct/Gct|P41A|230|C19orf38|protein_coding|CODING|ENST00000397820|exon_19_10960935_10961243 . . 0/1:99:247,0,246 . 19 11287338 rs138583048 C A NON_SYNONYMOUS_CODING KANK2 MODERATE|MISSENSE|cGg/cTg|R559L|851|KANK2|protein_coding|CODING|ENST00000355150|exon_19_11287254_11287493 . . 0/1:99:252,0,215 . 19 11287338 rs138583048 C A NON_SYNONYMOUS_CODING KANK2 MODERATE|MISSENSE|cGg/cTg|R567L|859|KANK2|protein_coding|CODING|ENST00000432929|exon_19_11287254_11287493 . . 0/1:99:252,0,215 . 19 11319669 rs201738818 A G NON_SYNONYMOUS_CODING DOCK6 MODERATE|MISSENSE|gTg/gCg|V1621A|2047|DOCK6|protein_coding|CODING|ENST00000294618|exon_19_11319587_11319779 . 0/1:99:150,0,221 . . 19 11319669 rs201738818 A G NON_SYNONYMOUS_CODING DOCK6 MODERATE|MISSENSE|gTg/gCg|V960A|1386|DOCK6|protein_coding|CODING|ENST00000319867|exon_19_11319587_11319779 . 0/1:99:150,0,221 . . 19 11348960 rs12609039 G A NON_SYNONYMOUS_CODING DOCK6 MODERATE|MISSENSE|cCg/cTg|P555L|2047|DOCK6|protein_coding|CODING|ENST00000294618|exon_19_11348863_11348980 . . 0/1:99:232,0,133 . 19 11447886 rs3969860 C T NON_SYNONYMOUS_CODING RAB3D MODERATE|MISSENSE|Gtc/Atc|V64I|219|RAB3D|protein_coding|CODING|ENST00000222120|exon_19_11447848_11448136 . . . 0/1:99:255,0,191 19 11461486 rs36097565 G T NON_SYNONYMOUS_CODING CCDC159 MODERATE|MISSENSE|Gtg/Ttg|V192L|411|CCDC159|protein_coding|CODING|ENST00000427879|exon_19_11461484_11461679 . . . 0/1:99:213,0,203 19 11461486 rs36097565 G T NON_SYNONYMOUS_CODING CCDC159 MODERATE|MISSENSE|Gtg/Ttg|V77L|297|CCDC159|protein_coding|CODING|ENST00000458408|exon_19_11461484_11461679 . . . 0/1:99:213,0,203 19 11508177 rs2291516 G A NON_SYNONYMOUS_CODING RGL3 MODERATE|MISSENSE|Cgt/Tgt|R412C|497|RGL3|protein_coding|CODING|ENST00000342684|exon_19_11508121_11508273 . 0/1:99:250,0,190 . . 19 11508177 rs2291516 G A NON_SYNONYMOUS_CODING RGL3 MODERATE|MISSENSE|Cgt/Tgt|R615C|710|RGL3|protein_coding|CODING|ENST00000380456|exon_19_11508121_11508273 . 0/1:99:250,0,190 . . 19 11508177 rs2291516 G A NON_SYNONYMOUS_CODING RGL3 MODERATE|MISSENSE|Cgt/Tgt|R621C|716|RGL3|protein_coding|CODING|ENST00000393423|exon_19_11508121_11508273 . 0/1:99:250,0,190 . . 19 11618630 rs34803265 G A NON_SYNONYMOUS_CODING ECSIT MODERATE|MISSENSE|Cgc/Tgc|R278C|431|ECSIT|protein_coding|CODING|ENST00000270517|exon_19_11618517_11618665 . 0/1:99:241,0,218 . . 19 11618630 rs34803265 G A NON_SYNONYMOUS_CODING ECSIT MODERATE|MISSENSE|Cgc/Tgc|R64C|217|ECSIT|protein_coding|CODING|ENST00000417981|exon_19_11618517_11618665 . 0/1:99:241,0,218 . . 19 11687195 rs2229531 C T NON_SYNONYMOUS_CODING ACP5 MODERATE|MISSENSE|Gtg/Atg|V200M|325|ACP5|protein_coding|CODING|ENST00000218758|exon_19_11687058_11687403 . . 0/1:99:208,0,127 . 19 11687195 rs2229531 C T NON_SYNONYMOUS_CODING ACP5 MODERATE|MISSENSE|Gtg/Atg|V200M|325|ACP5|protein_coding|CODING|ENST00000412435|exon_19_11687058_11687403 . . 0/1:99:208,0,127 . 19 11687195 rs2229531 C T NON_SYNONYMOUS_CODING ACP5 MODERATE|MISSENSE|Gtg/Atg|V200M|325|ACP5|protein_coding|CODING|ENST00000433365|exon_19_11687058_11687403 . . 0/1:99:208,0,127 . 19 11687351 rs2305799 C T NON_SYNONYMOUS_CODING ACP5 MODERATE|MISSENSE|Gtg/Atg|V148M|325|ACP5|protein_coding|CODING|ENST00000218758|exon_19_11687058_11687403 . . 0/1:99:255,0,255 . 19 11687351 rs2305799 C T NON_SYNONYMOUS_CODING ACP5 MODERATE|MISSENSE|Gtg/Atg|V148M|325|ACP5|protein_coding|CODING|ENST00000412435|exon_19_11687058_11687403 . . 0/1:99:255,0,255 . 19 11687351 rs2305799 C T NON_SYNONYMOUS_CODING ACP5 MODERATE|MISSENSE|Gtg/Atg|V148M|325|ACP5|protein_coding|CODING|ENST00000433365|exon_19_11687058_11687403 . . 0/1:99:255,0,255 . 19 11979305 rs72994214 C G NON_SYNONYMOUS_CODING ZNF439 MODERATE|MISSENSE|gCc/gGc|A338G|363|ZNF439|protein_coding|CODING|ENST00000455282|exon_19_11978121_11980297 . . . 0/1:99:255,0,255 19 11979305 rs72994214 C G NON_SYNONYMOUS_CODING ZNF439 MODERATE|MISSENSE|gCc/gGc|A474G|499|ZNF439|protein_coding|CODING|ENST00000304030|exon_19_11978121_11980306 . . . 0/1:99:255,0,255 19 12058341 rs77752522 G A NON_SYNONYMOUS_CODING ZNF700 MODERATE|MISSENSE|aGt/aAt|S68N|742|ZNF700|protein_coding|CODING|ENST00000254321|exon_19_12058329_12058389 . . . 0/1:99:187,0,180 19 12058342 rs371404 T A NON_SYNONYMOUS_CODING ZNF700 MODERATE|MISSENSE|agT/agA|S68R|742|ZNF700|protein_coding|CODING|ENST00000254321|exon_19_12058329_12058389 . . . 0/1:99:190,0,160 19 12089364 rs7249379 G T NON_SYNONYMOUS_CODING ZNF763 MODERATE|MISSENSE|Gtc/Ttc|V209F|394|ZNF763|protein_coding|CODING|ENST00000358987|exon_19_12088931_12090130 . . . 0/1:99:255,0,255 19 12089364 rs7249379 G T NON_SYNONYMOUS_CODING ZNF763 MODERATE|MISSENSE|Gtc/Ttc|V212F|397|ZNF763|protein_coding|CODING|ENST00000343949|exon_19_12088931_12090390 . . . 0/1:99:255,0,255 19 12089364 rs7249379 G T NON_SYNONYMOUS_CODING ZNF763 MODERATE|MISSENSE|Gtc/Ttc|V229F|414|ZNF763|protein_coding|CODING|ENST00000538752|exon_19_12088931_12090105 . . . 0/1:99:255,0,255 19 12089364 rs7249379 G T NON_SYNONYMOUS_CODING ZNF763 MODERATE|MISSENSE|Gtc/Ttc|V87F|272|ZNF763|protein_coding|CODING|ENST00000545530|exon_19_12088931_12090295 . . . 0/1:99:255,0,255 19 12089709 rs7254529 T C NON_SYNONYMOUS_CODING ZNF763 MODERATE|MISSENSE|Tac/Cac|Y202H|272|ZNF763|protein_coding|CODING|ENST00000545530|exon_19_12088931_12090295 . . . 0/1:99:235,0,255 19 12089709 rs7254529 T C NON_SYNONYMOUS_CODING ZNF763 MODERATE|MISSENSE|Tac/Cac|Y324H|394|ZNF763|protein_coding|CODING|ENST00000358987|exon_19_12088931_12090130 . . . 0/1:99:235,0,255 19 12089709 rs7254529 T C NON_SYNONYMOUS_CODING ZNF763 MODERATE|MISSENSE|Tac/Cac|Y327H|397|ZNF763|protein_coding|CODING|ENST00000343949|exon_19_12088931_12090390 . . . 0/1:99:235,0,255 19 12089709 rs7254529 T C NON_SYNONYMOUS_CODING ZNF763 MODERATE|MISSENSE|Tac/Cac|Y344H|414|ZNF763|protein_coding|CODING|ENST00000538752|exon_19_12088931_12090105 . . . 0/1:99:235,0,255 19 12089743 rs7250795 C T NON_SYNONYMOUS_CODING ZNF763 MODERATE|MISSENSE|aCg/aTg|T213M|272|ZNF763|protein_coding|CODING|ENST00000545530|exon_19_12088931_12090295 . . . 0/1:99:239,0,255 19 12089743 rs7250795 C T NON_SYNONYMOUS_CODING ZNF763 MODERATE|MISSENSE|aCg/aTg|T335M|394|ZNF763|protein_coding|CODING|ENST00000358987|exon_19_12088931_12090130 . . . 0/1:99:239,0,255 19 12089743 rs7250795 C T NON_SYNONYMOUS_CODING ZNF763 MODERATE|MISSENSE|aCg/aTg|T338M|397|ZNF763|protein_coding|CODING|ENST00000343949|exon_19_12088931_12090390 . . . 0/1:99:239,0,255 19 12089743 rs7250795 C T NON_SYNONYMOUS_CODING ZNF763 MODERATE|MISSENSE|aCg/aTg|T355M|414|ZNF763|protein_coding|CODING|ENST00000538752|exon_19_12088931_12090105 . . . 0/1:99:239,0,255 19 12089805 rs7250894 C G NON_SYNONYMOUS_CODING ZNF763 MODERATE|MISSENSE|Cgt/Ggt|R234G|272|ZNF763|protein_coding|CODING|ENST00000545530|exon_19_12088931_12090295 . . . 0/1:99:254,0,255 19 12089805 rs7250894 C G NON_SYNONYMOUS_CODING ZNF763 MODERATE|MISSENSE|Cgt/Ggt|R356G|394|ZNF763|protein_coding|CODING|ENST00000358987|exon_19_12088931_12090130 . . . 0/1:99:254,0,255 19 12089805 rs7250894 C G NON_SYNONYMOUS_CODING ZNF763 MODERATE|MISSENSE|Cgt/Ggt|R359G|397|ZNF763|protein_coding|CODING|ENST00000343949|exon_19_12088931_12090390 . . . 0/1:99:254,0,255 19 12089805 rs7250894 C G NON_SYNONYMOUS_CODING ZNF763 MODERATE|MISSENSE|Cgt/Ggt|R376G|414|ZNF763|protein_coding|CODING|ENST00000538752|exon_19_12088931_12090105 . . . 0/1:99:254,0,255 19 12224172 rs8109273 T C NON_SYNONYMOUS_CODING AC022415.1 MODERATE|MISSENSE|Tat/Cat|Y604H|615|AC022415.1|protein_coding|CODING|ENST00000339302|exon_19_12222061_12225491 . . . 0/1:99:255,0,255 19 12541005 rs139225854 G A NON_SYNONYMOUS_CODING ZNF443 MODERATE|MISSENSE|Ctc/Ttc|L633F|643|ZNF443|protein_coding|CODING|ENST00000411622|exon_19_12540698_12541251 . . 0/1:99:255,0,255 . 19 12541005 rs139225854 G A NON_SYNONYMOUS_CODING ZNF443 MODERATE|MISSENSE|Ctc/Ttc|L661F|671|ZNF443|protein_coding|CODING|ENST00000301547|exon_19_12540521_12542794 . . 0/1:99:255,0,255 . 19 12541250 rs45531232 T C NON_SYNONYMOUS_CODING ZNF443 MODERATE|MISSENSE|gAa/gGa|E551G|643|ZNF443|protein_coding|CODING|ENST00000411622|exon_19_12540698_12541251 . . . 0/1:99:193,0,255 19 12541250 rs45531232 T C NON_SYNONYMOUS_CODING ZNF443 MODERATE|MISSENSE|gAa/gGa|E579G|671|ZNF443|protein_coding|CODING|ENST00000301547|exon_19_12540521_12542794 . . . 0/1:99:193,0,255 19 12543251 rs138584869 A C NON_SYNONYMOUS_CODING ZNF443 MODERATE|MISSENSE|gTa/gGa|V44G|643|ZNF443|protein_coding|CODING|ENST00000411622|exon_19_12543191_12543251 . . . 1/1:39:64,21,0 19 12543251 rs138584869 A C NON_SYNONYMOUS_CODING ZNF443 MODERATE|MISSENSE|gTa/gGa|V44G|671|ZNF443|protein_coding|CODING|ENST00000301547|exon_19_12543191_12543251 . . . 1/1:39:64,21,0 19 12780204 rs117131055 T C NON_SYNONYMOUS_CODING WDR83OS MODERATE|MISSENSE|aAt/aGt|N5S|106|WDR83OS|protein_coding|CODING|ENST00000222190|exon_19_12780168_12780465 . . . 0/1:64:154,0,61 19 12805424 rs117566511 C T NON_SYNONYMOUS_CODING FBXW9 MODERATE|MISSENSE|cGa/cAa|R221Q|458|FBXW9|protein_coding|CODING|ENST00000393261|exon_19_12805408_12805536 . . . 0/1:99:255,0,186 19 12805424 rs117566511 C T NON_SYNONYMOUS_CODING FBXW9 MODERATE|MISSENSE|cGa/cAa|R221Q|488|FBXW9|protein_coding|CODING|ENST00000380339|exon_19_12805408_12805536 . . . 0/1:99:255,0,186 19 12996500 rs2072596 A G NON_SYNONYMOUS_CODING KLF1 MODERATE|MISSENSE|Ttc/Ctc|F182L|362|KLF1|protein_coding|CODING|ENST00000264834|exon_19_12996131_12996956 . . 0/1:99:200,0,168 . 19 13059147 rs11558955 A G NON_SYNONYMOUS_CODING RAD23A MODERATE|MISSENSE|Acg/Gcg|T131A|363|RAD23A|protein_coding|CODING|ENST00000316856|exon_19_13058991_13059172 . . 0/1:99:188,0,255 . 19 13084333 rs45513495 G A NON_SYNONYMOUS_CODING DAND5 MODERATE|MISSENSE|cGc/cAc|R152H|189|DAND5|protein_coding|CODING|ENST00000317060|exon_19_13084203_13085567 . . . 0/1:94:91,0,200 19 13397560 rs16027 C T NON_SYNONYMOUS_CODING CACNA1A MODERATE|MISSENSE|Ggc/Agc|G1104S|2506|CACNA1A|protein_coding|CODING|ENST00000360228|exon_19_13397317_13397780 . 0/1:75:72,0,175 . . 19 13397560 rs16027 C T NON_SYNONYMOUS_CODING CACNA1A MODERATE|MISSENSE|Ggc/Agc|G1105S|2261|CACNA1A|protein_coding|CODING|ENST00000325084|exon_19_13397317_13397780 . 0/1:75:72,0,175 . . 19 13397560 rs16027 C T NON_SYNONYMOUS_CODING CACNA1A MODERATE|MISSENSE|Ggc/Agc|G1105S|2495|CACNA1A|protein_coding|CODING|ENST00000357018|exon_19_13397317_13397780 . 0/1:75:72,0,175 . . 19 13397560 rs16027 C T NON_SYNONYMOUS_CODING CACNA1A MODERATE|MISSENSE|Ggc/Agc|G1108S|2512|CACNA1A|protein_coding|CODING|ENST00000418012|exon_19_13397317_13397780 . 0/1:75:72,0,175 . . 19 14000170 rs3803892 T C NON_SYNONYMOUS_CODING C19orf57 MODERATE|MISSENSE|cAg/cGg|Q500R|637|C19orf57|protein_coding|CODING|ENST00000346736|exon_19_14000001_14001275 . . 0/1:99:255,0,163 . 19 14000170 rs3803892 T C NON_SYNONYMOUS_CODING C19orf57 MODERATE|MISSENSE|cAg/cGg|Q500R|668|C19orf57|protein_coding|CODING|ENST00000454313|exon_19_14000001_14001275 . . 0/1:99:255,0,163 . 19 14000196 rs61732721 G T NON_SYNONYMOUS_CODING C19orf57 MODERATE|MISSENSE|gaC/gaA|D491E|637|C19orf57|protein_coding|CODING|ENST00000346736|exon_19_14000001_14001275 . 0/1:99:200,0,218 . . 19 14000196 rs61732721 G T NON_SYNONYMOUS_CODING C19orf57 MODERATE|MISSENSE|gaC/gaA|D491E|668|C19orf57|protein_coding|CODING|ENST00000454313|exon_19_14000001_14001275 . 0/1:99:200,0,218 . . 19 14000870 rs2305775 C T NON_SYNONYMOUS_CODING C19orf57 MODERATE|MISSENSE|Gga/Aga|G267R|637|C19orf57|protein_coding|CODING|ENST00000346736|exon_19_14000001_14001275 . . 0/1:99:255,0,230 . 19 14000870 rs2305775 C T NON_SYNONYMOUS_CODING C19orf57 MODERATE|MISSENSE|Gga/Aga|G267R|668|C19orf57|protein_coding|CODING|ENST00000454313|exon_19_14000001_14001275 . . 0/1:99:255,0,230 . 19 14024269 rs61740117 C T NON_SYNONYMOUS_CODING CC2D1A MODERATE|MISSENSE|gCg/gTg|A164V|235|CC2D1A|protein_coding|CODING|ENST00000389233|exon_19_14024217_14024451 . 0/1:99:236,0,235 . . 19 14024269 rs61740117 C T NON_SYNONYMOUS_CODING CC2D1A MODERATE|MISSENSE|gCg/gTg|A189V|951|CC2D1A|protein_coding|CODING|ENST00000318003|exon_19_14024217_14024451 . 0/1:99:236,0,235 . . 19 14024269 rs61740117 C T NON_SYNONYMOUS_CODING CC2D1A MODERATE|MISSENSE|gCg/gTg|A27V|573|CC2D1A|protein_coding|CODING|ENST00000254346|exon_19_14024217_14024451 . 0/1:99:236,0,235 . . 19 14043568 . G A NON_SYNONYMOUS_CODING PODNL1 MODERATE|MISSENSE|Cca/Tca|P347S|362|PODNL1|protein_coding|CODING|ENST00000545071|exon_19_14042000_14044268 0/1:99:225,0,255 . . . 19 14043568 . G A NON_SYNONYMOUS_CODING PODNL1 MODERATE|MISSENSE|Cca/Tca|P406S|421|PODNL1|protein_coding|CODING|ENST00000538517|exon_19_14042000_14044268 0/1:99:225,0,255 . . . 19 14043568 . G A NON_SYNONYMOUS_CODING PODNL1 MODERATE|MISSENSE|Cca/Tca|P415S|430|PODNL1|protein_coding|CODING|ENST00000254320|exon_19_14043168_14044268 0/1:99:225,0,255 . . . 19 14043568 . G A NON_SYNONYMOUS_CODING PODNL1 MODERATE|MISSENSE|Cca/Tca|P495S|510|PODNL1|protein_coding|CODING|ENST00000538371|exon_19_14042000_14044268 0/1:99:225,0,255 . . . 19 14043568 . G A NON_SYNONYMOUS_CODING PODNL1 MODERATE|MISSENSE|Cca/Tca|P497S|512|PODNL1|protein_coding|CODING|ENST00000339560|exon_19_14042000_14044268 0/1:99:225,0,255 . . . 19 14083602 rs199969477 T C NON_SYNONYMOUS_CODING RFX1 MODERATE|MISSENSE|Agt/Ggt|S423G|979|RFX1|protein_coding|CODING|ENST00000254325|exon_19_14083555_14083939 . . . 0/1:99:240,0,124 19 14164527 rs61749577 G C NON_SYNONYMOUS_CODING PALM3 MODERATE|MISSENSE|Cct/Gct|P638A|673|PALM3|protein_coding|CODING|ENST00000340790|exon_19_14164179_14166038 . 0/1:99:221,0,255 . . 19 14580328 rs2230539 A G NON_SYNONYMOUS_CODING PKN1 MODERATE|MISSENSE|Atc/Gtc|I718V|942|PKN1|protein_coding|CODING|ENST00000242783|exon_19_14580153_14580329 . 0/1:99:225,0,252 . . 19 14580328 rs2230539 A G NON_SYNONYMOUS_CODING PKN1 MODERATE|MISSENSE|Atc/Gtc|I724V|948|PKN1|protein_coding|CODING|ENST00000342216|exon_19_14580153_14580329 . 0/1:99:225,0,252 . . 19 14758168 rs34226397 G A NON_SYNONYMOUS_CODING EMR3 MODERATE|MISSENSE|gCc/gTc|A110V|526|EMR3|protein_coding|CODING|ENST00000443157|exon_19_14757993_14758177 . 0/1:99:255,0,255 0/1:99:255,0,103 . 19 14758168 rs34226397 G A NON_SYNONYMOUS_CODING EMR3 MODERATE|MISSENSE|gCc/gTc|A184V|600|EMR3|protein_coding|CODING|ENST00000344373|exon_19_14757993_14758177 . 0/1:99:255,0,255 0/1:99:255,0,103 . 19 14758168 rs34226397 G A NON_SYNONYMOUS_CODING EMR3 MODERATE|MISSENSE|gCc/gTc|A236V|652|EMR3|protein_coding|CODING|ENST00000253673|exon_19_14757993_14758177 . 0/1:99:255,0,255 0/1:99:255,0,103 . 19 14877043 rs2074892 C T NON_SYNONYMOUS_CODING EMR2 MODERATE|MISSENSE|cGa/cAa|R213Q|239|EMR2|protein_coding|CODING|ENST00000360222|exon_19_14876470_14877193 . 0/1:49:244,0,46 . 0/1:99:176,0,240 19 15052986 . C CATN,CATT CODON_CHANGE_PLUS_CODON_INSERTION OR7C2 MODERATE||tct/tcATTt|S229SF|319|OR7C2|protein_coding|CODING|ENST00000248072|exon_19_15052301_15053260 . 2/2:10:255,.,.,6,.,0 1/1:99:255,57,0,.,.,. . 19 15198448 rs144996858 A G NON_SYNONYMOUS_CODING OR1I1 MODERATE|MISSENSE|gAc/gGc|D191G|355|OR1I1|protein_coding|CODING|ENST00000209540|exon_19_15197791_15199032 . . . 0/1:99:240,0,214 19 15291876 rs201336164 C G NON_SYNONYMOUS_CODING NOTCH3 MODERATE|MISSENSE|Gac/Cac|D914H|1287|NOTCH3|protein_coding|CODING|ENST00000539383|exon_19_15291772_15291973 . . 0/1:99:216,0,183 . 19 15291876 rs201336164 C G NON_SYNONYMOUS_CODING NOTCH3 MODERATE|MISSENSE|Gac/Cac|D964H|2321|NOTCH3|protein_coding|CODING|ENST00000263388|exon_19_15291772_15291973 . . 0/1:99:216,0,183 . 19 15291879 rs199978689 C T NON_SYNONYMOUS_CODING NOTCH3 MODERATE|MISSENSE|Gca/Aca|A913T|1287|NOTCH3|protein_coding|CODING|ENST00000539383|exon_19_15291772_15291973 . . 0/1:99:209,0,205 . 19 15291879 rs199978689 C T NON_SYNONYMOUS_CODING NOTCH3 MODERATE|MISSENSE|Gca/Aca|A963T|2321|NOTCH3|protein_coding|CODING|ENST00000263388|exon_19_15291772_15291973 . . 0/1:99:209,0,205 . 19 15569378 rs58123634 G C NON_SYNONYMOUS_CODING RASAL3 MODERATE|MISSENSE|Ctg/Gtg|L251V|1011|RASAL3|protein_coding|CODING|ENST00000343625|exon_19_15569340_15569466 . . 0/1:99:202,0,103 . 19 15579532 . G C NON_SYNONYMOUS_CODING PGLYRP2 MODERATE|MISSENSE|tCt/tGt|S558C|576|PGLYRP2|protein_coding|CODING|ENST00000340880|exon_19_15579456_15579563 0/1:99:214,0,153 . . . 19 15726589 rs11673150 C A NON_SYNONYMOUS_CODING CYP4F8 MODERATE|MISSENSE|cCc/cAc|P16H|332|CYP4F8|protein_coding|CODING|ENST00000325723|exon_19_15726427_15726625 0/1:99:224,0,166 . . . 19 15905289 rs61754873 G T NON_SYNONYMOUS_CODING OR10H5 MODERATE|MISSENSE|cGg/cTg|R144L|315|OR10H5|protein_coding|CODING|ENST00000308940|exon_19_15904761_15905892 . 0/1:99:201,0,255 . . 19 15989730 rs4020346 T C NON_SYNONYMOUS_CODING CYP4F2 MODERATE|MISSENSE|Acg/Gcg|T323A|371|CYP4F2|protein_coding|CODING|ENST00000392846|exon_19_15989374_15989746 0/1:95:92,0,255 . . . 19 15989730 rs4020346 T C NON_SYNONYMOUS_CODING CYP4F2 MODERATE|MISSENSE|Acg/Gcg|T472A|520|CYP4F2|protein_coding|CODING|ENST00000221700|exon_19_15988834_15989746 0/1:95:92,0,255 . . . 19 16059846 rs117192411 C G NON_SYNONYMOUS_CODING OR10H4 MODERATE|MISSENSE|tCt/tGt|S10C|316|OR10H4|protein_coding|CODING|ENST00000322107|exon_19_16059818_16060768 . 0/1:99:255,0,255 . . 19 16593359 rs12459238 C T NON_SYNONYMOUS_CODING CALR3 MODERATE|MISSENSE|Gtc/Atc|V274I|384|CALR3|protein_coding|CODING|ENST00000269881|exon_19_16593261_16593392 0/1:99:255,0,219 . . . 19 16593359 rs12459238 C T NON_SYNONYMOUS_CODING CALR3 MODERATE|MISSENSE|Gtc/Atc|V71I|181|CALR3|protein_coding|CODING|ENST00000409035|exon_19_16593261_16593392 0/1:99:255,0,219 . . . 19 16847526 rs139873139 C T NON_SYNONYMOUS_CODING NWD1 MODERATE|MISSENSE|Cgg/Tgg|R55W|1432|NWD1|protein_coding|CODING|ENST00000379808|exon_19_16847445_16847561 0/1:99:255,0,194 . . . 19 16847526 rs139873139 C T NON_SYNONYMOUS_CODING NWD1 MODERATE|MISSENSE|Cgg/Tgg|R55W|1432|NWD1|protein_coding|CODING|ENST00000524140|exon_19_16847445_16847561 0/1:99:255,0,194 . . . 19 16847526 rs139873139 C T NON_SYNONYMOUS_CODING NWD1 MODERATE|MISSENSE|Cgg/Tgg|R55W|1522|NWD1|protein_coding|CODING|ENST00000549814|exon_19_16847445_16847561 0/1:99:255,0,194 . . . 19 16847526 rs139873139 C T NON_SYNONYMOUS_CODING NWD1 MODERATE|MISSENSE|Cgg/Tgg|R55W|1564|NWD1|protein_coding|CODING|ENST00000552788|exon_19_16847445_16847561 0/1:99:255,0,194 . . . 19 16926067 rs11671361 A T NON_SYNONYMOUS_CODING NWD1 MODERATE|MISSENSE|gAc/gTc|D1335V|1358|NWD1|protein_coding|CODING|ENST00000523826|exon_19_16925839_16927537 0/1:99:219,0,249 . . . 19 16926067 rs11671361 A T NON_SYNONYMOUS_CODING NWD1 MODERATE|MISSENSE|gAc/gTc|D1406V|1429|NWD1|protein_coding|CODING|ENST00000339803|exon_19_16925839_16927537 0/1:99:219,0,249 . . . 19 16926067 rs11671361 A T NON_SYNONYMOUS_CODING NWD1 MODERATE|MISSENSE|gAc/gTc|D1406V|1429|NWD1|protein_coding|CODING|ENST00000420818|exon_19_16925839_16928773 0/1:99:219,0,249 . . . 19 16926067 rs11671361 A T NON_SYNONYMOUS_CODING NWD1 MODERATE|MISSENSE|gAc/gTc|D1499V|1522|NWD1|protein_coding|CODING|ENST00000549814|exon_19_16925839_16927934 0/1:99:219,0,249 . . . 19 16926067 rs11671361 A T NON_SYNONYMOUS_CODING NWD1 MODERATE|MISSENSE|gAc/gTc|D1541V|1564|NWD1|protein_coding|CODING|ENST00000552788|exon_19_16925839_16928409 0/1:99:219,0,249 . . . 19 17017878 rs56408444 G A NON_SYNONYMOUS_CODING CPAMD8 MODERATE|MISSENSE|gCg/gTg|A1351V|1932|CPAMD8|protein_coding|CODING|ENST00000291440|exon_19_17017762_17017927 . . 0/1:99:244,0,119 0/1:99:220,0,101 19 17108022 rs62125985 C T NON_SYNONYMOUS_CODING CPAMD8 MODERATE|MISSENSE|Gcg/Acg|A332T|503|CPAMD8|protein_coding|CODING|ENST00000388925|exon_19_17107921_17108148 . . . 0/1:99:159,0,117 19 17108022 rs62125985 C T NON_SYNONYMOUS_CODING CPAMD8 MODERATE|MISSENSE|Gcg/Acg|A379T|1932|CPAMD8|protein_coding|CODING|ENST00000291440|exon_19_17107921_17108148 . . . 0/1:99:159,0,117 19 17108052 rs62622858 C T NON_SYNONYMOUS_CODING CPAMD8 MODERATE|MISSENSE|Gtg/Atg|V322M|503|CPAMD8|protein_coding|CODING|ENST00000388925|exon_19_17107921_17108148 0/1:77:163,0,74 . . . 19 17108052 rs62622858 C T NON_SYNONYMOUS_CODING CPAMD8 MODERATE|MISSENSE|Gtg/Atg|V369M|1932|CPAMD8|protein_coding|CODING|ENST00000291440|exon_19_17107921_17108148 0/1:77:163,0,74 . . . 19 17108094 rs143454938 C T NON_SYNONYMOUS_CODING CPAMD8 MODERATE|MISSENSE|Gtc/Atc|V308I|503|CPAMD8|protein_coding|CODING|ENST00000388925|exon_19_17107921_17108148 0/1:99:186,0,135 . . . 19 17108094 rs143454938 C T NON_SYNONYMOUS_CODING CPAMD8 MODERATE|MISSENSE|Gtc/Atc|V355I|1932|CPAMD8|protein_coding|CODING|ENST00000291440|exon_19_17107921_17108148 0/1:99:186,0,135 . . . 19 17108136 rs61744196 G A NON_SYNONYMOUS_CODING CPAMD8 MODERATE|MISSENSE|Cgg/Tgg|R294W|503|CPAMD8|protein_coding|CODING|ENST00000388925|exon_19_17107921_17108148 0/1:99:174,0,166 . . . 19 17108136 rs61744196 G A NON_SYNONYMOUS_CODING CPAMD8 MODERATE|MISSENSE|Cgg/Tgg|R341W|1932|CPAMD8|protein_coding|CODING|ENST00000291440|exon_19_17107921_17108148 0/1:99:174,0,166 . . . 19 17113104 rs202230331 C T NON_SYNONYMOUS_CODING CPAMD8 MODERATE|MISSENSE|Gcc/Acc|A244T|503|CPAMD8|protein_coding|CODING|ENST00000388925|exon_19_17113076_17113160 . . 0/1:99:245,0,190 . 19 17113104 rs202230331 C T NON_SYNONYMOUS_CODING CPAMD8 MODERATE|MISSENSE|Gcc/Acc|A291T|1932|CPAMD8|protein_coding|CODING|ENST00000291440|exon_19_17113076_17113160 . . 0/1:99:245,0,190 . 19 17337557 rs10425488 G T NON_SYNONYMOUS_CODING OCEL1 MODERATE|MISSENSE|cGc/cTc|R42L|264|OCEL1|protein_coding|CODING|ENST00000215061|exon_19_17337502_17337678 0/1:99:124,0,202 . . 1/1:87:255,45,0 19 17346854 rs202200760 G C NON_SYNONYMOUS_CODING NR2F6 MODERATE|MISSENSE|Ccg/Gcg|P105A|377|NR2F6|protein_coding|CODING|ENST00000536940|exon_19_17346308_17346874 . 0/1:63:60,0,129 . . 19 17346854 rs202200760 G C NON_SYNONYMOUS_CODING NR2F6 MODERATE|MISSENSE|Ccg/Gcg|P132A|404|NR2F6|protein_coding|CODING|ENST00000291442|exon_19_17346308_17346874 . 0/1:63:60,0,129 . . 19 17361116 rs1043963 G A NON_SYNONYMOUS_CODING USHBP1 MODERATE|MISSENSE|gCg/gTg|A613V|639|USHBP1|protein_coding|CODING|ENST00000431146|exon_19_17360963_17361223 . . 0/1:99:138,0,228 . 19 17361116 rs1043963 G A NON_SYNONYMOUS_CODING USHBP1 MODERATE|MISSENSE|gCg/gTg|A677V|703|USHBP1|protein_coding|CODING|ENST00000252597|exon_19_17360838_17361223 . . 0/1:99:138,0,228 . 19 17397491 . GTGTGTGTGTTTGTGTGTGT GTGTGTGTGT CODON_DELETION ANKLE1 MODERATE||gtgtgtgtgtgt/-|VCVC590-|606|ANKLE1|protein_coding|CODING|ENST00000438921|exon_19_17397502_17397731 0/1:44:158,0,41 . . . 19 17439400 rs113297737 C G NON_SYNONYMOUS_CODING ANO8 MODERATE|MISSENSE|gaG/gaC|E599D|1232|ANO8|protein_coding|CODING|ENST00000159087|exon_19_17438971_17439792 . . 0/1:86:83,0,120 . 19 17445470 rs200336282 C T NON_SYNONYMOUS_CODING ANO8 MODERATE|MISSENSE|Gcc/Acc|A4T|1232|ANO8|protein_coding|CODING|ENST00000159087|exon_19_17445374_17445638 . . . 0/1:72:129,0,69 19 17566634 rs56248314 T A NON_SYNONYMOUS_CODING NXNL1 MODERATE|MISSENSE|gAg/gTg|E154V|212|NXNL1|protein_coding|CODING|ENST00000301944|exon_19_17566236_17566768 . . . 1/1:51:203,27,0 19 17615609 rs10417922 T C NON_SYNONYMOUS_CODING SLC27A1 MODERATE|MISSENSE|cTg/cCg|L219P|240|SLC27A1|protein_coding|CODING|ENST00000300969|exon_19_17615536_17615676 0/1:99:163,0,204 . . . 19 17643088 rs140354498 G A NON_SYNONYMOUS_CODING FAM129C MODERATE|MISSENSE|cGt/cAt|R45H|569|FAM129C|protein_coding|CODING|ENST00000435646|exon_19_17643075_17643197 . 0/1:99:255,0,172 . . 19 17643088 rs140354498 G A NON_SYNONYMOUS_CODING FAM129C MODERATE|MISSENSE|cGt/cAt|R99H|593|FAM129C|protein_coding|CODING|ENST00000300971|exon_19_17643072_17643197 . 0/1:99:255,0,172 . . 19 17643088 rs140354498 G A NON_SYNONYMOUS_CODING FAM129C MODERATE|MISSENSE|cGt/cAt|R99H|615|FAM129C|protein_coding|CODING|ENST00000352727|exon_19_17643072_17643197 . 0/1:99:255,0,172 . . 19 17643088 rs140354498 G A NON_SYNONYMOUS_CODING FAM129C MODERATE|MISSENSE|cGt/cAt|R99H|651|FAM129C|protein_coding|CODING|ENST00000332386|exon_19_17643072_17643197 . 0/1:99:255,0,172 . . 19 17643088 rs140354498 G A NON_SYNONYMOUS_CODING FAM129C MODERATE|MISSENSE|cGt/cAt|R99H|697|FAM129C|protein_coding|CODING|ENST00000335393|exon_19_17643072_17643197 . 0/1:99:255,0,172 . . 19 17650229 rs114207587 C A NON_SYNONYMOUS_CODING FAM129C MODERATE|MISSENSE|gCa/gAa|A19E|423|FAM129C|protein_coding|CODING|ENST00000449408|exon_19_17650156_17650260 0/1:99:191,0,164 . . . 19 17650229 rs114207587 C A NON_SYNONYMOUS_CODING FAM129C MODERATE|MISSENSE|gCa/gAa|A239E|569|FAM129C|protein_coding|CODING|ENST00000435646|exon_19_17650156_17650260 0/1:99:191,0,164 . . . 19 17650229 rs114207587 C A NON_SYNONYMOUS_CODING FAM129C MODERATE|MISSENSE|gCa/gAa|A293E|593|FAM129C|protein_coding|CODING|ENST00000300971|exon_19_17650156_17650260 0/1:99:191,0,164 . . . 19 17650229 rs114207587 C A NON_SYNONYMOUS_CODING FAM129C MODERATE|MISSENSE|gCa/gAa|A293E|615|FAM129C|protein_coding|CODING|ENST00000352727|exon_19_17650156_17650260 0/1:99:191,0,164 . . . 19 17650229 rs114207587 C A NON_SYNONYMOUS_CODING FAM129C MODERATE|MISSENSE|gCa/gAa|A293E|651|FAM129C|protein_coding|CODING|ENST00000332386|exon_19_17650156_17650260 0/1:99:191,0,164 . . . 19 17650229 rs114207587 C A NON_SYNONYMOUS_CODING FAM129C MODERATE|MISSENSE|gCa/gAa|A293E|697|FAM129C|protein_coding|CODING|ENST00000335393|exon_19_17650156_17650260 0/1:99:191,0,164 . . . 19 17654181 rs45532635 C T NON_SYNONYMOUS_CODING FAM129C MODERATE|MISSENSE|aCg/aTg|T219M|423|FAM129C|protein_coding|CODING|ENST00000449408|exon_19_17654126_17654242 . 0/1:99:164,0,134 . . 19 17654181 rs45532635 C T NON_SYNONYMOUS_CODING FAM129C MODERATE|MISSENSE|aCg/aTg|T439M|569|FAM129C|protein_coding|CODING|ENST00000435646|exon_19_17654126_17654242 . 0/1:99:164,0,134 . . 19 17654181 rs45532635 C T NON_SYNONYMOUS_CODING FAM129C MODERATE|MISSENSE|aCg/aTg|T493M|593|FAM129C|protein_coding|CODING|ENST00000300971|exon_19_17654126_17654242 . 0/1:99:164,0,134 . . 19 17654181 rs45532635 C T NON_SYNONYMOUS_CODING FAM129C MODERATE|MISSENSE|aCg/aTg|T493M|615|FAM129C|protein_coding|CODING|ENST00000352727|exon_19_17654126_17654242 . 0/1:99:164,0,134 . . 19 17654181 rs45532635 C T NON_SYNONYMOUS_CODING FAM129C MODERATE|MISSENSE|aCg/aTg|T493M|651|FAM129C|protein_coding|CODING|ENST00000332386|exon_19_17654126_17654242 . 0/1:99:164,0,134 . . 19 17654181 rs45532635 C T NON_SYNONYMOUS_CODING FAM129C MODERATE|MISSENSE|aCg/aTg|T493M|697|FAM129C|protein_coding|CODING|ENST00000335393|exon_19_17654126_17654242 . 0/1:99:164,0,134 . . 19 17662616 rs76629753 G A NON_SYNONYMOUS_CODING FAM129C MODERATE|MISSENSE|cGg/cAg|R540Q|569|FAM129C|protein_coding|CODING|ENST00000435646|exon_19_17662595_17662769 0/1:99:225,0,182 . . . 19 17662616 rs76629753 G A NON_SYNONYMOUS_CODING FAM129C MODERATE|MISSENSE|cGg/cAg|R586Q|615|FAM129C|protein_coding|CODING|ENST00000352727|exon_19_17662595_17662832 0/1:99:225,0,182 . . . 19 17662616 rs76629753 G A NON_SYNONYMOUS_CODING FAM129C MODERATE|MISSENSE|cGg/cAg|R622Q|651|FAM129C|protein_coding|CODING|ENST00000332386|exon_19_17662595_17662832 0/1:99:225,0,182 . . . 19 17945696 rs3213409 C T NON_SYNONYMOUS_CODING JAK3 MODERATE|MISSENSE|Gtc/Atc|V722I|1094|JAK3|protein_coding|CODING|ENST00000534444|exon_19_17945661_17945812 0/1:99:205,0,175 . . . 19 17945696 rs3213409 C T NON_SYNONYMOUS_CODING JAK3 MODERATE|MISSENSE|Gtc/Atc|V722I|1124|JAK3|protein_coding|CODING|ENST00000458235|exon_19_17945661_17945812 0/1:99:205,0,175 . . . 19 17945696 rs3213409 C T NON_SYNONYMOUS_CODING JAK3 MODERATE|MISSENSE|Gtc/Atc|V722I|1124|JAK3|protein_coding|CODING|ENST00000527670|exon_19_17945661_17945812 0/1:99:205,0,175 . . . 19 18368529 rs61740687 C T NON_SYNONYMOUS_CODING KIAA1683 MODERATE|MISSENSE|Gtc/Atc|V1002I|1180|KIAA1683|protein_coding|CODING|ENST00000359737|exon_19_18367909_18368916 . . . 0/1:99:206,0,140 19 18368529 rs61740687 C T NON_SYNONYMOUS_CODING KIAA1683 MODERATE|MISSENSE|Gtc/Atc|V1189I|1367|KIAA1683|protein_coding|CODING|ENST00000392413|exon_19_18367909_18368916 . . . 0/1:99:206,0,140 19 18368529 rs61740687 C T NON_SYNONYMOUS_CODING KIAA1683 MODERATE|MISSENSE|Gtc/Atc|V266I|444|KIAA1683|protein_coding|CODING|ENST00000392412|exon_19_18367909_18371518 . . . 0/1:99:206,0,140 19 18368529 rs61740687 C T NON_SYNONYMOUS_CODING KIAA1683 MODERATE|MISSENSE|Gtc/Atc|V616I|794|KIAA1683|protein_coding|CODING|ENST00000411671|exon_19_18367955_18368916 . . . 0/1:99:206,0,140 19 18368529 rs61740687 C T NON_SYNONYMOUS_CODING KIAA1683 MODERATE|MISSENSE|Gtc/Atc|V956I|1134|KIAA1683|protein_coding|CODING|ENST00000427634|exon_19_18367909_18368916 . . . 0/1:99:206,0,140 19 18369148 . CC CCCAC CODON_INSERTION KIAA1683 MODERATE||-/GTG|-59V|444|KIAA1683|protein_coding|CODING|ENST00000392412|exon_19_18367909_18371518 . . . 0/1:99:229,0,215 19 18375531 rs113185969 G A NON_SYNONYMOUS_CODING KIAA1683 MODERATE|MISSENSE|gCg/gTg|A940V|1367|KIAA1683|protein_coding|CODING|ENST00000392413|exon_19_18375173_18378336 . . . 0/1:99:198,0,182 19 18375760 rs137899214 G C NON_SYNONYMOUS_CODING KIAA1683 MODERATE|MISSENSE|Cag/Gag|Q478E|794|KIAA1683|protein_coding|CODING|ENST00000411671|exon_19_18375734_18376351 . . 0/1:99:255,0,246 . 19 18375760 rs137899214 G C NON_SYNONYMOUS_CODING KIAA1683 MODERATE|MISSENSE|Cag/Gag|Q818E|1134|KIAA1683|protein_coding|CODING|ENST00000427634|exon_19_18375734_18378375 . . 0/1:99:255,0,246 . 19 18375760 rs137899214 G C NON_SYNONYMOUS_CODING KIAA1683 MODERATE|MISSENSE|Cag/Gag|Q864E|1180|KIAA1683|protein_coding|CODING|ENST00000359737|exon_19_18375734_18378336 . . 0/1:99:255,0,246 . 19 18375760 rs137899214 G C NON_SYNONYMOUS_CODING KIAA1683 MODERATE|MISSENSE|Cag/Gag|Q864E|1367|KIAA1683|protein_coding|CODING|ENST00000392413|exon_19_18375173_18378336 . . 0/1:99:255,0,246 . 19 18376518 rs61740751 T A NON_SYNONYMOUS_CODING KIAA1683 MODERATE|MISSENSE|cAg/cTg|Q565L|1134|KIAA1683|protein_coding|CODING|ENST00000427634|exon_19_18375734_18378375 . 0/1:99:210,0,243 0/1:99:255,0,169 . 19 18376518 rs61740751 T A NON_SYNONYMOUS_CODING KIAA1683 MODERATE|MISSENSE|cAg/cTg|Q611L|1180|KIAA1683|protein_coding|CODING|ENST00000359737|exon_19_18375734_18378336 . 0/1:99:210,0,243 0/1:99:255,0,169 . 19 18376518 rs61740751 T A NON_SYNONYMOUS_CODING KIAA1683 MODERATE|MISSENSE|cAg/cTg|Q611L|1367|KIAA1683|protein_coding|CODING|ENST00000392413|exon_19_18375173_18378336 . 0/1:99:210,0,243 0/1:99:255,0,169 . 19 18499422 rs1058587 C G NON_SYNONYMOUS_CODING GDF15 MODERATE|MISSENSE|Cac/Gac|H202D|308|GDF15|protein_coding|CODING|ENST00000252809|exon_19_18499096_18499986 . 1/1:99:255,78,0 . . 19 18562438 rs2303694 C T NON_SYNONYMOUS_CODING ELL MODERATE|MISSENSE|aGc/aAc|S297N|621|ELL|protein_coding|CODING|ENST00000262809|exon_19_18562362_18562458 . 0/1:99:255,0,255 . . 19 18876309 rs3746266 A G NON_SYNONYMOUS_CODING CRTC1 MODERATE|MISSENSE|Acc/Gcc|T328A|593|CRTC1|protein_coding|CODING|ENST00000262813|exon_19_18876214_18876338 . 0/1:99:216,0,138 . . 19 18876309 rs3746266 A G NON_SYNONYMOUS_CODING CRTC1 MODERATE|MISSENSE|Acc/Gcc|T328A|634|CRTC1|protein_coding|CODING|ENST00000321949|exon_19_18876214_18876338 . 0/1:99:216,0,138 . . 19 18876309 rs3746266 A G NON_SYNONYMOUS_CODING CRTC1 MODERATE|MISSENSE|Acc/Gcc|T344A|650|CRTC1|protein_coding|CODING|ENST00000338797|exon_19_18876214_18876338 . 0/1:99:216,0,138 . . 19 19329924 rs2228603 C T NON_SYNONYMOUS_CODING NCAN MODERATE|MISSENSE|Ccc/Tcc|P106S|1335|NCAN|protein_coding|CODING|ENST00000539499|exon_19_19329724_19330125 . 1/1:99:255,81,0 . . 19 19329924 rs2228603 C T NON_SYNONYMOUS_CODING NCAN MODERATE|MISSENSE|Ccc/Tcc|P92S|1321|NCAN|protein_coding|CODING|ENST00000252575|exon_19_19329724_19330125 . 1/1:99:255,81,0 . . 19 19338942 rs10426537 G A NON_SYNONYMOUS_CODING NCAN MODERATE|MISSENSE|aGt/aAt|S289N|772|NCAN|protein_coding|CODING|ENST00000538881|exon_19_19338090_19339448 0/1:99:222,0,217 . . . 19 19338942 rs10426537 G A NON_SYNONYMOUS_CODING NCAN MODERATE|MISSENSE|aGt/aAt|S838N|1321|NCAN|protein_coding|CODING|ENST00000252575|exon_19_19338090_19339448 0/1:99:222,0,217 . . . 19 19338942 rs10426537 G A NON_SYNONYMOUS_CODING NCAN MODERATE|MISSENSE|aGt/aAt|S852N|1335|NCAN|protein_coding|CODING|ENST00000539499|exon_19_19338090_19339448 0/1:99:222,0,217 . . . 19 19379549 rs58542926 C T NON_SYNONYMOUS_CODING TM6SF2 MODERATE|MISSENSE|Gag/Aag|E167K|351|TM6SF2|protein_coding|CODING|ENST00000269990|exon_19_19379439_19379563 . 1/1:99:255,81,0 . . 19 19379549 rs58542926 C T NON_SYNONYMOUS_CODING TM6SF2 MODERATE|MISSENSE|Gag/Aag|E167K|377|TM6SF2|protein_coding|CODING|ENST00000389363|exon_19_19379439_19379563 . 1/1:99:255,81,0 . . 19 20044932 rs62135329 G A NON_SYNONYMOUS_CODING ZNF93 MODERATE|MISSENSE|Gtt/Att|V390I|592|ZNF93|protein_coding|CODING|ENST00000427325|exon_19_20043991_20044964 . 0/1:99:255,0,255 . 0/1:99:255,0,255 19 20044932 rs62135329 G A NON_SYNONYMOUS_CODING ZNF93 MODERATE|MISSENSE|Gtt/Att|V390I|620|ZNF93|protein_coding|CODING|ENST00000343769|exon_19_20043991_20046382 . 0/1:99:255,0,255 . 0/1:99:255,0,255 19 20229486 rs1725935 G A NON_SYNONYMOUS_CODING ZNF90 MODERATE|MISSENSE|Ggc/Agc|G375S|601|ZNF90|protein_coding|CODING|ENST00000418063|exon_19_20228590_20230561 0/1:99:255,0,255 0/1:99:169,0,255 . . 19 21719157 . G A NON_SYNONYMOUS_CODING ZNF429 MODERATE|MISSENSE|aGg/aAg|R101K|674|ZNF429|protein_coding|CODING|ENST00000358491|exon_19_21719082_21721079 . . . 0/1:99:219,0,255 19 22157159 rs181405778 T C NON_SYNONYMOUS_CODING ZNF208 MODERATE|MISSENSE|gAg/gGg|E226G|1167|ZNF208|protein_coding|CODING|ENST00000428290|exon_19_22156449_22157609 . . . 0/1:99:255,0,217 19 22157159 rs181405778 T C NON_SYNONYMOUS_CODING ZNF208 MODERATE|MISSENSE|gAg/gGg|E226G|1280|ZNF208|protein_coding|CODING|ENST00000397126|exon_19_22148897_22157609 . . . 0/1:99:255,0,217 19 22364233 rs12986319 C T NON_SYNONYMOUS_CODING ZNF676 MODERATE|MISSENSE|Gaa/Aaa|E96K|588|ZNF676|protein_coding|CODING|ENST00000397121|exon_19_22361903_22364388 . . . 0/1:99:247,0,255 19 22868206 rs116906028 A G NON_SYNONYMOUS_CODING AC011467.1 MODERATE|MISSENSE|Aaa/Gaa|K80E|499|AC011467.1|protein_coding|CODING|ENST00000340708|exon_19_22867969_22869468 . . 0/1:99:255,0,255 . 19 23544625 rs403356 C T NON_SYNONYMOUS_CODING ZNF91 MODERATE|MISSENSE|Gct/Act|A354T|1159|ZNF91|protein_coding|CODING|ENST00000397082|exon_19_23542205_23545527 . . 0/1:99:172,0,255 0/1:99:155,0,255 19 23544625 rs403356 C T NON_SYNONYMOUS_CODING ZNF91 MODERATE|MISSENSE|Gct/Act|A386T|1191|ZNF91|protein_coding|CODING|ENST00000300619|exon_19_23540501_23545527 . . 0/1:99:172,0,255 0/1:99:155,0,255 19 23938269 . T C NON_SYNONYMOUS_CODING ZNF681 MODERATE|MISSENSE|Agg/Ggg|R30G|645|ZNF681|protein_coding|CODING|ENST00000402377|exon_19_23938227_23938353 0/1:99:131,0,255 . . . 19 24010321 rs200743636 C T NON_SYNONYMOUS_CODING RPSAP58 MODERATE|MISSENSE|Cgg/Tgg|R120W|295|RPSAP58|protein_coding|CODING|ENST00000354585|exon_19_24009921_24010917 0/1:99:157,0,160 . . . 19 24010321 rs200743636 C T NON_SYNONYMOUS_CODING RPSAP58 MODERATE|MISSENSE|Cgg/Tgg|R120W|295|RPSAP58|protein_coding|CODING|ENST00000496398|exon_19_24009872_24010937 0/1:99:157,0,160 . . . 19 33301171 rs73035345 C T NON_SYNONYMOUS_CODING TDRD12 MODERATE|MISSENSE|aCg/aTg|T942M|1177|TDRD12|protein_coding|CODING|ENST00000444215|exon_19_33300999_33301183 . . 1/1:99:255,126,0 . 19 33370084 rs745960 T A NON_SYNONYMOUS_CODING CEP89 MODERATE|MISSENSE|cAt/cTt|H779L|783|CEP89|protein_coding|CODING|ENST00000305768|exon_19_33369908_33370284 0/1:99:184,0,109 0/1:99:235,0,144 0/1:93:90,0,226 . 19 33467413 rs2304103 C T NON_SYNONYMOUS_CODING C19orf40 MODERATE|MISSENSE|tCg/tTg|S158L|215|C19orf40|protein_coding|CODING|ENST00000254262|exon_19_33467337_33467946 . 0/1:99:216,0,255 . . 19 33482821 rs79314177 G A NON_SYNONYMOUS_CODING RHPN2 MODERATE|MISSENSE|Cgc/Tgc|R248C|416|RHPN2|protein_coding|CODING|ENST00000544458|exon_19_33482729_33482875 . 0/1:99:246,0,243 . . 19 33482821 rs79314177 G A NON_SYNONYMOUS_CODING RHPN2 MODERATE|MISSENSE|Cgc/Tgc|R367C|535|RHPN2|protein_coding|CODING|ENST00000400226|exon_19_33482729_33482875 . 0/1:99:246,0,243 . . 19 33482821 rs79314177 G A NON_SYNONYMOUS_CODING RHPN2 MODERATE|MISSENSE|Cgc/Tgc|R518C|686|RHPN2|protein_coding|CODING|ENST00000254260|exon_19_33482729_33482875 . 0/1:99:246,0,243 . . 19 33616077 rs73039449 C T NON_SYNONYMOUS_CODING GPATCH1 MODERATE|MISSENSE|gCc/gTc|A863V|931|GPATCH1|protein_coding|CODING|ENST00000170564|exon_19_33616011_33616108 . . 0/1:99:230,0,248 . 19 33696823 . G A NON_SYNONYMOUS_CODING LRP3 MODERATE|MISSENSE|Ggg/Agg|G257R|284|LRP3|protein_coding|CODING|ENST00000431491|exon_19_33695544_33697639 0/1:99:199,0,191 . . . 19 33696823 . G A NON_SYNONYMOUS_CODING LRP3 MODERATE|MISSENSE|Ggg/Agg|G383R|770|LRP3|protein_coding|CODING|ENST00000253193|exon_19_33696152_33697268 0/1:99:199,0,191 . . . 19 33698018 rs11539586 C T NON_SYNONYMOUS_CODING LRP3 MODERATE|MISSENSE|gCg/gTg|A617V|770|LRP3|protein_coding|CODING|ENST00000253193|exon_19_33697894_33699765 0/1:99:234,0,133 . . 0/1:99:176,0,162 19 34297911 . A G NON_SYNONYMOUS_CODING KCTD15 MODERATE|MISSENSE|Agg/Ggg|R4G|304|KCTD15|protein_coding|CODING|ENST00000413790|exon_19_34297768_34297912 0/1:99:218,0,255 . . . 19 34297911 . A G NON_SYNONYMOUS_CODING KCTD15 MODERATE|MISSENSE|aAg/aGg|K129R|234|KCTD15|protein_coding|CODING|ENST00000284006|exon_19_34297768_34297912 0/1:99:218,0,255 . . . 19 34297911 . A G NON_SYNONYMOUS_CODING KCTD15 MODERATE|MISSENSE|aAg/aGg|K129R|283|KCTD15|protein_coding|CODING|ENST00000430256|exon_19_34297768_34297912 0/1:99:218,0,255 . . . 19 34297911 . A G NON_SYNONYMOUS_CODING KCTD15 MODERATE|MISSENSE|aAg/aGg|K132R|286|KCTD15|protein_coding|CODING|ENST00000422820|exon_19_34297768_34297912 0/1:99:218,0,255 . . . 19 34303802 rs141966235 G A NON_SYNONYMOUS_CODING KCTD15 MODERATE|MISSENSE|gGc/gAc|G142D|304|KCTD15|protein_coding|CODING|ENST00000413790|exon_19_34303695_34304265 . 0/1:92:89,0,255 . . 19 35260436 rs148823885 C A NON_SYNONYMOUS_CODING ZNF599 MODERATE|MISSENSE|Gtt/Ttt|V14F|587|ZNF599|protein_coding|CODING|ENST00000392231|exon_19_35260334_35260460 . . . 0/1:99:175,0,255 19 35260436 rs148823885 C A NON_SYNONYMOUS_CODING ZNF599 MODERATE|MISSENSE|Gtt/Ttt|V15F|588|ZNF599|protein_coding|CODING|ENST00000329285|exon_19_35260334_35260460 . . . 0/1:99:175,0,255 19 35260436 rs148823885 C A NON_SYNONYMOUS_CODING ZNF599 MODERATE|MISSENSE|Gtt/Ttt|V9F|89|ZNF599|protein_coding|CODING|ENST00000379196|exon_19_35260334_35260460 . . . 0/1:99:175,0,255 19 35434448 rs62122088 A G NON_SYNONYMOUS_CODING ZNF30 MODERATE|MISSENSE|aAg/aGg|K112R|542|ZNF30|protein_coding|CODING|ENST00000426813|exon_19_35434127_35436069 . . 0/1:99:255,0,255 . 19 35434448 rs62122088 A G NON_SYNONYMOUS_CODING ZNF30 MODERATE|MISSENSE|aAg/aGg|K193R|623|ZNF30|protein_coding|CODING|ENST00000303586|exon_19_35434127_35436074 . . 0/1:99:255,0,255 . 19 35434448 rs62122088 A G NON_SYNONYMOUS_CODING ZNF30 MODERATE|MISSENSE|aAg/aGg|K194R|624|ZNF30|protein_coding|CODING|ENST00000439785|exon_19_35434127_35436074 . . 0/1:99:255,0,255 . 19 35434582 rs142299823 G T NON_SYNONYMOUS_CODING ZNF30 MODERATE|MISSENSE|Ggg/Tgg|G157W|542|ZNF30|protein_coding|CODING|ENST00000426813|exon_19_35434127_35436069 . . 0/1:99:255,0,255 . 19 35434582 rs142299823 G T NON_SYNONYMOUS_CODING ZNF30 MODERATE|MISSENSE|Ggg/Tgg|G238W|623|ZNF30|protein_coding|CODING|ENST00000303586|exon_19_35434127_35436074 . . 0/1:99:255,0,255 . 19 35434582 rs142299823 G T NON_SYNONYMOUS_CODING ZNF30 MODERATE|MISSENSE|Ggg/Tgg|G239W|624|ZNF30|protein_coding|CODING|ENST00000439785|exon_19_35434127_35436074 . . 0/1:99:255,0,255 . 19 35487125 rs67018685 G A NON_SYNONYMOUS_CODING GRAMD1A MODERATE|MISSENSE|Gcc/Acc|A67T|806|GRAMD1A|protein_coding|CODING|ENST00000453966|exon_19_35486898_35487195 0/1:99:226,0,186 . . . 19 35524824 rs55742440 T C NON_SYNONYMOUS_CODING SCN1B MODERATE|MISSENSE|cTc/cCc|L210P|268|SCN1B|protein_coding|CODING|ENST00000415950|exon_19_35524403_35525174 0/1:99:225,0,149 . 0/1:99:242,0,213 0/1:99:203,0,174 19 35718938 rs564117 C T NON_SYNONYMOUS_CODING FAM187B MODERATE|MISSENSE|Gtc/Atc|V216I|369|FAM187B|protein_coding|CODING|ENST00000324675|exon_19_35718862_35719632 . 0/1:99:255,0,255 . . 19 35719577 rs34873156 G A NON_SYNONYMOUS_CODING FAM187B MODERATE|MISSENSE|Ccc/Tcc|P3S|369|FAM187B|protein_coding|CODING|ENST00000324675|exon_19_35718862_35719632 . 0/1:99:164,0,200 1/1:99:255,72,0 . 19 35758274 . TGGG TGGGGGG CODON_INSERTION LSR MODERATE||-/GGG|-363G|493|LSR|protein_coding|CODING|ENST00000427250|exon_19_35758012_35758637 . 1/1:99:255,66,0 . . 19 35758274 . TGGG TGGGGGG CODON_INSERTION LSR MODERATE||-/GGG|-451G|581|LSR|protein_coding|CODING|ENST00000360798|exon_19_35758012_35758637 . 1/1:99:255,66,0 . . 19 35758274 . TGGG TGGGGGG CODON_INSERTION LSR MODERATE||-/GGG|-461G|591|LSR|protein_coding|CODING|ENST00000347609|exon_19_35758012_35758637 . 1/1:99:255,66,0 . . 19 35758274 . TGGG TGGGGGG CODON_INSERTION LSR MODERATE||-/GGG|-500G|630|LSR|protein_coding|CODING|ENST00000354900|exon_19_35758012_35758637 . 1/1:99:255,66,0 . . 19 35758274 . TGGG TGGGGGG CODON_INSERTION LSR MODERATE||-/GGG|-519G|649|LSR|protein_coding|CODING|ENST00000361790|exon_19_35758012_35758637 . 1/1:99:255,66,0 . . 19 35758745 rs62112774 G C NON_SYNONYMOUS_CODING LSR MODERATE|MISSENSE|Gaa/Caa|E489Q|493|LSR|protein_coding|CODING|ENST00000427250|exon_19_35758727_35758865 . 0/1:99:227,0,176 . . 19 35758745 rs62112774 G C NON_SYNONYMOUS_CODING LSR MODERATE|MISSENSE|Gaa/Caa|E577Q|581|LSR|protein_coding|CODING|ENST00000360798|exon_19_35758727_35758863 . 0/1:99:227,0,176 . . 19 35758745 rs62112774 G C NON_SYNONYMOUS_CODING LSR MODERATE|MISSENSE|Gaa/Caa|E587Q|591|LSR|protein_coding|CODING|ENST00000347609|exon_19_35758727_35758865 . 0/1:99:227,0,176 . . 19 35758745 rs62112774 G C NON_SYNONYMOUS_CODING LSR MODERATE|MISSENSE|Gaa/Caa|E626Q|630|LSR|protein_coding|CODING|ENST00000354900|exon_19_35758727_35758863 . 0/1:99:227,0,176 . . 19 35758745 rs62112774 G C NON_SYNONYMOUS_CODING LSR MODERATE|MISSENSE|Gaa/Caa|E645Q|649|LSR|protein_coding|CODING|ENST00000361790|exon_19_35758727_35758863 . 0/1:99:227,0,176 . . 19 35836530 rs10406069 G A NON_SYNONYMOUS_CODING CD22 MODERATE|MISSENSE|gGc/gAc|G568D|670|CD22|protein_coding|CODING|ENST00000341773|exon_19_35836505_35836623 0/1:99:207,0,255 . 0/1:99:177,0,185 . 19 35836530 rs10406069 G A NON_SYNONYMOUS_CODING CD22 MODERATE|MISSENSE|gGc/gAc|G573D|675|CD22|protein_coding|CODING|ENST00000419549|exon_19_35836505_35836623 0/1:99:207,0,255 . 0/1:99:177,0,185 . 19 35836530 rs10406069 G A NON_SYNONYMOUS_CODING CD22 MODERATE|MISSENSE|gGc/gAc|G657D|759|CD22|protein_coding|CODING|ENST00000536635|exon_19_35836505_35836623 0/1:99:207,0,255 . 0/1:99:177,0,185 . 19 35836530 rs10406069 G A NON_SYNONYMOUS_CODING CD22 MODERATE|MISSENSE|gGc/gAc|G745D|847|CD22|protein_coding|CODING|ENST00000085219|exon_19_35836505_35836623 0/1:99:207,0,255 . 0/1:99:177,0,185 . 19 35849813 rs146397125 G C NON_SYNONYMOUS_CODING FFAR3 MODERATE|MISSENSE|caG/caC|Q7H|346|FFAR3|protein_coding|CODING|ENST00000327809|exon_19_35849782_35851387 . . . 0/1:54:63,0,51 19 35850829 rs201080710 G A NON_SYNONYMOUS_CODING FFAR3 MODERATE|MISSENSE|aGc/aAc|S346N|346|FFAR3|protein_coding|CODING|ENST00000327809|exon_19_35849782_35851387 . . . 0/1:66:64,0,68 19 35862781 rs200059255 T C NON_SYNONYMOUS_CODING GPR42 MODERATE|MISSENSE|Tgg/Cgg|W174R|346|GPR42|protein_coding|CODING|ENST00000454971|exon_19_35862251_35863855 1/1:16:81,9,0 . . . 19 35863180 rs201159994 A G NON_SYNONYMOUS_CODING GPR42 MODERATE|MISSENSE|Atg/Gtg|M307V|346|GPR42|protein_coding|CODING|ENST00000454971|exon_19_35862251_35863855 . . . 1/1:10:72,6,0 19 35898899 rs16970294 A G NON_SYNONYMOUS_CODING AC002511.1 MODERATE|MISSENSE|Atg/Gtg|M84V|299|AC002511.1|protein_coding|CODING|ENST00000536898|exon_19_35897487_35900053 . . . 0/1:99:223,0,185 19 35899037 rs113510419 T C NON_SYNONYMOUS_CODING AC002511.1 MODERATE|MISSENSE|Tgc/Cgc|C130R|299|AC002511.1|protein_coding|CODING|ENST00000536898|exon_19_35897487_35900053 . . . 0/1:99:227,0,255 19 35899068 . GTGATGAT GTGAT CODON_DELETION AC002511.1 MODERATE||gat/-|D142-|299|AC002511.1|protein_coding|CODING|ENST00000536898|exon_19_35897487_35900053 . . . 0/1:99:235,0,255 19 36003962 rs7247001 T C NON_SYNONYMOUS_CODING DMKN MODERATE|MISSENSE|aAt/aGt|N139S|369|DMKN|protein_coding|CODING|ENST00000451297|exon_19_36003952_36004377 0/1:99:232,0,197 . . . 19 36003962 rs7247001 T C NON_SYNONYMOUS_CODING DMKN MODERATE|MISSENSE|aAt/aGt|N139S|386|DMKN|protein_coding|CODING|ENST00000418261|exon_19_36003952_36004383 0/1:99:232,0,197 . . . 19 36003962 rs7247001 T C NON_SYNONYMOUS_CODING DMKN MODERATE|MISSENSE|aAt/aGt|N139S|389|DMKN|protein_coding|CODING|ENST00000392207|exon_19_36003952_36004377 0/1:99:232,0,197 . . . 19 36003962 rs7247001 T C NON_SYNONYMOUS_CODING DMKN MODERATE|MISSENSE|aAt/aGt|N139S|398|DMKN|protein_coding|CODING|ENST00000424570|exon_19_36003952_36004383 0/1:99:232,0,197 . . . 19 36003962 rs7247001 T C NON_SYNONYMOUS_CODING DMKN MODERATE|MISSENSE|aAt/aGt|N139S|416|DMKN|protein_coding|CODING|ENST00000440396|exon_19_36003952_36004560 0/1:99:232,0,197 . . . 19 36003962 rs7247001 T C NON_SYNONYMOUS_CODING DMKN MODERATE|MISSENSE|aAt/aGt|N139S|436|DMKN|protein_coding|CODING|ENST00000447113|exon_19_36003952_36004560 0/1:99:232,0,197 . . . 19 36003962 rs7247001 T C NON_SYNONYMOUS_CODING DMKN MODERATE|MISSENSE|aAt/aGt|N139S|449|DMKN|protein_coding|CODING|ENST00000429837|exon_19_36003952_36004383 0/1:99:232,0,197 . . . 19 36003962 rs7247001 T C NON_SYNONYMOUS_CODING DMKN MODERATE|MISSENSE|aAt/aGt|N139S|465|DMKN|protein_coding|CODING|ENST00000419602|exon_19_36003952_36004384 0/1:99:232,0,197 . . . 19 36003962 rs7247001 T C NON_SYNONYMOUS_CODING DMKN MODERATE|MISSENSE|aAt/aGt|N139S|476|DMKN|protein_coding|CODING|ENST00000339686|exon_19_36003952_36004554 0/1:99:232,0,197 . . . 19 36004171 rs12460932 C A NON_SYNONYMOUS_CODING DMKN MODERATE|MISSENSE|gaG/gaT|E69D|369|DMKN|protein_coding|CODING|ENST00000451297|exon_19_36003952_36004377 0/1:68:65,0,197 . 0/1:99:123,0,230 . 19 36004171 rs12460932 C A NON_SYNONYMOUS_CODING DMKN MODERATE|MISSENSE|gaG/gaT|E69D|386|DMKN|protein_coding|CODING|ENST00000418261|exon_19_36003952_36004383 0/1:68:65,0,197 . 0/1:99:123,0,230 . 19 36004171 rs12460932 C A NON_SYNONYMOUS_CODING DMKN MODERATE|MISSENSE|gaG/gaT|E69D|389|DMKN|protein_coding|CODING|ENST00000392207|exon_19_36003952_36004377 0/1:68:65,0,197 . 0/1:99:123,0,230 . 19 36004171 rs12460932 C A NON_SYNONYMOUS_CODING DMKN MODERATE|MISSENSE|gaG/gaT|E69D|398|DMKN|protein_coding|CODING|ENST00000424570|exon_19_36003952_36004383 0/1:68:65,0,197 . 0/1:99:123,0,230 . 19 36004171 rs12460932 C A NON_SYNONYMOUS_CODING DMKN MODERATE|MISSENSE|gaG/gaT|E69D|416|DMKN|protein_coding|CODING|ENST00000440396|exon_19_36003952_36004560 0/1:68:65,0,197 . 0/1:99:123,0,230 . 19 36004171 rs12460932 C A NON_SYNONYMOUS_CODING DMKN MODERATE|MISSENSE|gaG/gaT|E69D|436|DMKN|protein_coding|CODING|ENST00000447113|exon_19_36003952_36004560 0/1:68:65,0,197 . 0/1:99:123,0,230 . 19 36004171 rs12460932 C A NON_SYNONYMOUS_CODING DMKN MODERATE|MISSENSE|gaG/gaT|E69D|449|DMKN|protein_coding|CODING|ENST00000429837|exon_19_36003952_36004383 0/1:68:65,0,197 . 0/1:99:123,0,230 . 19 36004171 rs12460932 C A NON_SYNONYMOUS_CODING DMKN MODERATE|MISSENSE|gaG/gaT|E69D|465|DMKN|protein_coding|CODING|ENST00000419602|exon_19_36003952_36004384 0/1:68:65,0,197 . 0/1:99:123,0,230 . 19 36004171 rs12460932 C A NON_SYNONYMOUS_CODING DMKN MODERATE|MISSENSE|gaG/gaT|E69D|476|DMKN|protein_coding|CODING|ENST00000339686|exon_19_36003952_36004554 0/1:68:65,0,197 . 0/1:99:123,0,230 . 19 36018648 rs146976554 C G NON_SYNONYMOUS_CODING SBSN MODERATE|MISSENSE|gGg/gCg|G179A|590|SBSN|protein_coding|CODING|ENST00000452271|exon_19_36017546_36019212 . 0/1:99:169,0,145 . . 19 36019170 rs138249808 C T NON_SYNONYMOUS_CODING SBSN MODERATE|MISSENSE|cGt/cAt|R5H|247|SBSN|protein_coding|CODING|ENST00000518157|exon_19_36018809_36019253 . . 0/1:99:177,0,255 . 19 36019170 rs138249808 C T NON_SYNONYMOUS_CODING SBSN MODERATE|MISSENSE|cGt/cAt|R5H|590|SBSN|protein_coding|CODING|ENST00000452271|exon_19_36017546_36019212 . . 0/1:99:177,0,255 . 19 36134208 rs2285419 G A NON_SYNONYMOUS_CODING ETV2 MODERATE|MISSENSE|Gac/Aac|D118N|370|ETV2|protein_coding|CODING|ENST00000379026|exon_19_36134176_36134655 . . 0/1:99:229,0,196 . 19 36134208 rs2285419 G A NON_SYNONYMOUS_CODING ETV2 MODERATE|MISSENSE|Gac/Aac|D90N|184|ETV2|protein_coding|CODING|ENST00000379021|exon_19_36134176_36134336 . . 0/1:99:229,0,196 . 19 36134208 rs2285419 G A NON_SYNONYMOUS_CODING ETV2 MODERATE|MISSENSE|Gac/Aac|D90N|342|ETV2|protein_coding|CODING|ENST00000402764|exon_19_36134176_36134655 . . 0/1:99:229,0,196 . 19 36134208 rs2285419 G A NON_SYNONYMOUS_CODING ETV2 MODERATE|MISSENSE|Gac/Aac|D90N|342|ETV2|protein_coding|CODING|ENST00000403402|exon_19_36134176_36134655 . . 0/1:99:229,0,196 . 19 36211374 rs199534880 CAAG C CODON_DELETION MLL4.1 MODERATE||aag/-|K376-|2715|MLL4.1|protein_coding|CODING|ENST00000222270|exon_19_36210686_36212706 . . . 1/1:99:255,51,0 19 36211374 rs199534880 CAAG C CODON_DELETION MLL4.1 MODERATE||aag/-|K376-|2715|MLL4.1|protein_coding|CODING|ENST00000420124|exon_19_36210686_36212706 . . . 1/1:99:255,51,0 19 36211374 rs199534880 CAAG C CODON_DELETION MLL4.1 MODERATE||aag/-|K376-|582|MLL4.1|protein_coding|CODING|ENST00000341701|exon_19_36210686_36211842 . . . 1/1:99:255,51,0 19 36336437 rs201239200 T C NON_SYNONYMOUS_CODING NPHS1 MODERATE|MISSENSE|gAg/gGg|E588G|1201|NPHS1|protein_coding|CODING|ENST00000353632|exon_19_36336270_36336442 0/1:57:54,0,163 . 0/1:69:66,0,152 0/1:56:53,0,80 19 36336437 rs201239200 T C NON_SYNONYMOUS_CODING NPHS1 MODERATE|MISSENSE|gAg/gGg|E588G|1241|NPHS1|protein_coding|CODING|ENST00000378910|exon_19_36336270_36336442 0/1:57:54,0,163 . 0/1:69:66,0,152 0/1:56:53,0,80 19 36339247 rs33950747 C T NON_SYNONYMOUS_CODING NPHS1 MODERATE|MISSENSE|cGg/cAg|R408Q|1201|NPHS1|protein_coding|CODING|ENST00000353632|exon_19_36339155_36339299 . . 0/1:99:218,0,244 . 19 36339247 rs33950747 C T NON_SYNONYMOUS_CODING NPHS1 MODERATE|MISSENSE|cGg/cAg|R408Q|1241|NPHS1|protein_coding|CODING|ENST00000378910|exon_19_36339155_36339299 . . 0/1:99:218,0,244 . 19 36339559 . T C NON_SYNONYMOUS_CODING NPHS1 MODERATE|MISSENSE|Atg/Gtg|M384V|1201|NPHS1|protein_coding|CODING|ENST00000353632|exon_19_36339539_36339696 0/1:99:255,0,129 . . . 19 36339559 . T C NON_SYNONYMOUS_CODING NPHS1 MODERATE|MISSENSE|Atg/Gtg|M384V|1241|NPHS1|protein_coding|CODING|ENST00000378910|exon_19_36339539_36339696 0/1:99:255,0,129 . . . 19 36508845 rs149100841 C T NON_SYNONYMOUS_CODING CLIP3 MODERATE|MISSENSE|cGt/cAt|R293H|429|CLIP3|protein_coding|CODING|ENST00000544037|exon_19_36508750_36508893 . . . 0/1:99:182,0,236 19 36508845 rs149100841 C T NON_SYNONYMOUS_CODING CLIP3 MODERATE|MISSENSE|cGt/cAt|R387H|523|CLIP3|protein_coding|CODING|ENST00000534959|exon_19_36508750_36508893 . . . 0/1:99:182,0,236 19 36508845 rs149100841 C T NON_SYNONYMOUS_CODING CLIP3 MODERATE|MISSENSE|cGt/cAt|R411H|547|CLIP3|protein_coding|CODING|ENST00000360535|exon_19_36508750_36508893 . . . 0/1:99:182,0,236 19 36530428 rs34250145 G A NON_SYNONYMOUS_CODING THAP8 MODERATE|MISSENSE|Cct/Tct|P12S|129|THAP8|protein_coding|CODING|ENST00000538849|exon_19_36530225_36530620 . . . 0/1:99:209,0,254 19 36530428 rs34250145 G A NON_SYNONYMOUS_CODING THAP8 MODERATE|MISSENSE|Cct/Tct|P157S|274|THAP8|protein_coding|CODING|ENST00000292894|exon_19_36530225_36530620 . . . 0/1:99:209,0,254 19 36530428 rs34250145 G A NON_SYNONYMOUS_CODING THAP8 MODERATE|MISSENSE|Cct/Tct|P157S|274|THAP8|protein_coding|CODING|ENST00000392182|exon_19_36530225_36530620 . . . 0/1:99:209,0,254 19 36593915 rs61741470 T G NON_SYNONYMOUS_CODING WDR62 MODERATE|MISSENSE|aTg/aGg|M1129R|1518|WDR62|protein_coding|CODING|ENST00000270301|exon_19_36593850_36593976 0/1:99:255,0,203 . . . 19 36593915 rs61741470 T G NON_SYNONYMOUS_CODING WDR62 MODERATE|MISSENSE|aTg/aGg|M1134R|1523|WDR62|protein_coding|CODING|ENST00000401500|exon_19_36593850_36593976 0/1:99:255,0,203 . . . 19 37854001 rs200968223 A G NON_SYNONYMOUS_CODING HKR1 MODERATE|MISSENSE|cAc/cGc|H162R|386|HKR1|protein_coding|CODING|ENST00000544914|exon_19_37853011_37855348 0/1:99:255,0,206 . . . 19 37854001 rs200968223 A G NON_SYNONYMOUS_CODING HKR1 MODERATE|MISSENSE|cAc/cGc|H214R|438|HKR1|protein_coding|CODING|ENST00000414402|exon_19_37853970_37855214 0/1:99:255,0,206 . . . 19 37854001 rs200968223 A G NON_SYNONYMOUS_CODING HKR1 MODERATE|MISSENSE|cAc/cGc|H374R|598|HKR1|protein_coding|CODING|ENST00000541583|exon_19_37853011_37855348 0/1:99:255,0,206 . . . 19 37854001 rs200968223 A G NON_SYNONYMOUS_CODING HKR1 MODERATE|MISSENSE|cAc/cGc|H416R|640|HKR1|protein_coding|CODING|ENST00000392153|exon_19_37853011_37855353 0/1:99:255,0,206 . . . 19 37854001 rs200968223 A G NON_SYNONYMOUS_CODING HKR1 MODERATE|MISSENSE|cAc/cGc|H435R|659|HKR1|protein_coding|CODING|ENST00000324411|exon_19_37853011_37855355 0/1:99:255,0,206 . . . 19 37854001 rs200968223 A G NON_SYNONYMOUS_CODING HKR1 MODERATE|MISSENSE|cAc/cGc|H471R|729|HKR1|protein_coding|CODING|ENST00000542144|exon_19_37853008_37854500 0/1:99:255,0,206 . . . 19 38229926 rs11666245 G A NON_SYNONYMOUS_CODING ZNF573 MODERATE|MISSENSE|Cgg/Tgg|R401W|577|ZNF573|protein_coding|CODING|ENST00000357309|exon_19_38229203_38231095 . 0/1:99:255,0,255 0/1:99:255,0,255 . 19 38229926 rs11666245 G A NON_SYNONYMOUS_CODING ZNF573 MODERATE|MISSENSE|Cgg/Tgg|R401W|577|ZNF573|protein_coding|CODING|ENST00000427026|exon_19_38229393_38231111 . 0/1:99:255,0,255 0/1:99:255,0,255 . 19 38229926 rs11666245 G A NON_SYNONYMOUS_CODING ZNF573 MODERATE|MISSENSE|Cgg/Tgg|R401W|577|ZNF573|protein_coding|CODING|ENST00000536220|exon_19_38229203_38231095 . 0/1:99:255,0,255 0/1:99:255,0,255 . 19 38229926 rs11666245 G A NON_SYNONYMOUS_CODING ZNF573 MODERATE|MISSENSE|Cgg/Tgg|R402W|578|ZNF573|protein_coding|CODING|ENST00000392138|exon_19_38229203_38231095 . 0/1:99:255,0,255 0/1:99:255,0,255 . 19 38229926 rs11666245 G A NON_SYNONYMOUS_CODING ZNF573 MODERATE|MISSENSE|Cgg/Tgg|R431W|607|ZNF573|protein_coding|CODING|ENST00000339503|exon_19_38229203_38231095 . 0/1:99:255,0,255 0/1:99:255,0,255 . 19 38655389 rs138693571 G A NON_SYNONYMOUS_CODING SIPA1L3 MODERATE|MISSENSE|Gct/Act|A1351T|1781|SIPA1L3|protein_coding|CODING|ENST00000222345|exon_19_38655119_38655546 0/1:99:189,0,133 . . . 19 38673353 rs61729145 G A NON_SYNONYMOUS_CODING SIPA1L3 MODERATE|MISSENSE|cGg/cAg|R1468Q|1781|SIPA1L3|protein_coding|CODING|ENST00000222345|exon_19_38673159_38673380 . 0/1:99:162,0,255 . . 19 38800176 rs11556992 G A NON_SYNONYMOUS_CODING YIF1B MODERATE|MISSENSE|Cct/Tct|P25S|283|YIF1B|protein_coding|CODING|ENST00000392124|exon_19_38800045_38800509 0/1:99:211,0,193 . . . 19 38800176 rs11556992 G A NON_SYNONYMOUS_CODING YIF1B MODERATE|MISSENSE|Cct/Tct|P41S|299|YIF1B|protein_coding|CODING|ENST00000329420|exon_19_38800045_38800283 0/1:99:211,0,193 . . . 19 38800176 rs11556992 G A NON_SYNONYMOUS_CODING YIF1B MODERATE|MISSENSE|Cct/Tct|P53S|291|YIF1B|protein_coding|CODING|ENST00000337679|exon_19_38800045_38800283 0/1:99:211,0,193 . . . 19 38800176 rs11556992 G A NON_SYNONYMOUS_CODING YIF1B MODERATE|MISSENSE|Cct/Tct|P56S|314|YIF1B|protein_coding|CODING|ENST00000339413|exon_19_38800045_38800283 0/1:99:211,0,193 . . . 19 38876202 rs61742630 C T NON_SYNONYMOUS_CODING GGN MODERATE|MISSENSE|aGc/aAc|S567N|652|GGN|protein_coding|CODING|ENST00000334928|exon_19_38876061_38877920 . . . 0/1:99:115,0,125 19 38885397 rs142553701 C A NON_SYNONYMOUS_CODING SPRED3 MODERATE|MISSENSE|Ccc/Acc|P180T|410|SPRED3|protein_coding|CODING|ENST00000338502|exon_19_38885283_38885426 . . . 0/1:99:131,0,141 19 38910787 rs41465445 C T NON_SYNONYMOUS_CODING RASGRP4 MODERATE|MISSENSE|Gga/Aga|G165R|484|RASGRP4|protein_coding|CODING|ENST00000426920|exon_19_38910771_38910902 . . 0/1:99:187,0,201 . 19 38910787 rs41465445 C T NON_SYNONYMOUS_CODING RASGRP4 MODERATE|MISSENSE|Gga/Aga|G165R|576|RASGRP4|protein_coding|CODING|ENST00000293062|exon_19_38910771_38910902 . . 0/1:99:187,0,201 . 19 38910787 rs41465445 C T NON_SYNONYMOUS_CODING RASGRP4 MODERATE|MISSENSE|Gga/Aga|G165R|581|RASGRP4|protein_coding|CODING|ENST00000433821|exon_19_38910771_38910902 . . 0/1:99:187,0,201 . 19 38910787 rs41465445 C T NON_SYNONYMOUS_CODING RASGRP4 MODERATE|MISSENSE|Gga/Aga|G165R|617|RASGRP4|protein_coding|CODING|ENST00000405332|exon_19_38910771_38910902 . . 0/1:99:187,0,201 . 19 38910787 rs41465445 C T NON_SYNONYMOUS_CODING RASGRP4 MODERATE|MISSENSE|Gga/Aga|G165R|673|RASGRP4|protein_coding|CODING|ENST00000454404|exon_19_38910771_38910902 . . 0/1:99:187,0,201 . 19 38983180 rs35364374 G T NON_SYNONYMOUS_CODING RYR1 MODERATE|MISSENSE|Ggc/Tgc|G2060C|5033|RYR1|protein_coding|CODING|ENST00000355481|exon_19_38983130_38983276 . 0/1:99:246,0,165 . . 19 38983180 rs35364374 G T NON_SYNONYMOUS_CODING RYR1 MODERATE|MISSENSE|Ggc/Tgc|G2060C|5033|RYR1|protein_coding|CODING|ENST00000360985|exon_19_38983130_38983276 . 0/1:99:246,0,165 . . 19 38983180 rs35364374 G T NON_SYNONYMOUS_CODING RYR1 MODERATE|MISSENSE|Ggc/Tgc|G2060C|5038|RYR1|protein_coding|CODING|ENST00000359596|exon_19_38983130_38983276 . 0/1:99:246,0,165 . . 19 39088017 . T C NON_SYNONYMOUS_CODING MAP4K1 MODERATE|MISSENSE|Atg/Gtg|M596V|821|MAP4K1|protein_coding|CODING|ENST00000396857|exon_19_39087966_39088024 0/1:99:217,0,161 . . . 19 39088017 . T C NON_SYNONYMOUS_CODING MAP4K1 MODERATE|MISSENSE|Atg/Gtg|M596V|832|MAP4K1|protein_coding|CODING|ENST00000221409|exon_19_39087966_39088024 0/1:99:217,0,161 . . . 19 39229089 rs12983010 A G NON_SYNONYMOUS_CODING CAPN12 MODERATE|MISSENSE|Tgc/Cgc|C287R|719|CAPN12|protein_coding|CODING|ENST00000328867|exon_19_39229058_39229143 0/1:99:150,0,204 0/1:99:235,0,225 . . 19 39230852 rs62617084 C T NON_SYNONYMOUS_CODING CAPN12 MODERATE|MISSENSE|Ggc/Agc|G190S|719|CAPN12|protein_coding|CODING|ENST00000328867|exon_19_39230691_39230859 0/1:99:153,0,200 . . . 19 39306529 rs58750431 C T NON_SYNONYMOUS_CODING ECH1 MODERATE|MISSENSE|Gac/Aac|D284N|328|ECH1|protein_coding|CODING|ENST00000221418|exon_19_39306497_39306647 0/1:99:184,0,187 . . . 19 39665608 . T G NON_SYNONYMOUS_CODING PAK4 MODERATE|MISSENSE|gTg/gGg|V135G|347|PAK4|protein_coding|CODING|ENST00000542377|exon_19_39665571_39665704 . . 0/1:99:236,0,166 . 19 39665608 . T G NON_SYNONYMOUS_CODING PAK4 MODERATE|MISSENSE|gTg/gGg|V183G|395|PAK4|protein_coding|CODING|ENST00000358801|exon_19_39665571_39665704 . . 0/1:99:236,0,166 . 19 39665608 . T G NON_SYNONYMOUS_CODING PAK4 MODERATE|MISSENSE|gTg/gGg|V226G|438|PAK4|protein_coding|CODING|ENST00000321944|exon_19_39665571_39665704 . . 0/1:99:236,0,166 . 19 39665608 . T G NON_SYNONYMOUS_CODING PAK4 MODERATE|MISSENSE|gTg/gGg|V379G|591|PAK4|protein_coding|CODING|ENST00000358301|exon_19_39665571_39665704 . . 0/1:99:236,0,166 . 19 39665608 . T G NON_SYNONYMOUS_CODING PAK4 MODERATE|MISSENSE|gTg/gGg|V379G|591|PAK4|protein_coding|CODING|ENST00000360442|exon_19_39665571_39665704 . . 0/1:99:236,0,166 . 19 39665608 . T G NON_SYNONYMOUS_CODING PAK4 MODERATE|MISSENSE|gTg/gGg|V379G|591|PAK4|protein_coding|CODING|ENST00000435673|exon_19_39665571_39665704 . . 0/1:99:236,0,166 . 19 39689899 rs142595740 T C NON_SYNONYMOUS_CODING NCCRP1 MODERATE|MISSENSE|aTg/aCg|M181T|275|NCCRP1|protein_coding|CODING|ENST00000339852|exon_19_39689810_39689905 0/1:99:116,0,225 . . . 19 39735106 rs8103142 T C NON_SYNONYMOUS_CODING IL28B MODERATE|MISSENSE|aAg/aGg|K70R|196|IL28B|protein_coding|CODING|ENST00000413851|exon_19_39735057_39735134 . 0/1:76:73,0,253 . . 19 39760435 rs59746524 T C NON_SYNONYMOUS_CODING IL28A MODERATE|MISSENSE|Tac/Cac|Y160H|200|IL28A|protein_coding|CODING|ENST00000331982|exon_19_39760378_39760461 . 0/1:99:132,0,189 . . 19 39789115 rs30461 A G NON_SYNONYMOUS_CODING IL29 MODERATE|MISSENSE|Aac/Gac|N188D|200|IL29|protein_coding|CODING|ENST00000333625|exon_19_39789031_39789312 . 0/1:99:253,0,229 . . 19 39908214 rs73033371 C T NON_SYNONYMOUS_CODING PLEKHG2 MODERATE|MISSENSE|gCg/gTg|A196V|1237|PLEKHG2|protein_coding|CODING|ENST00000458508|exon_19_39908195_39908332 . 0/1:99:164,0,181 . . 19 39908214 rs73033371 C T NON_SYNONYMOUS_CODING PLEKHG2 MODERATE|MISSENSE|gCg/gTg|A255V|1357|PLEKHG2|protein_coding|CODING|ENST00000425673|exon_19_39908195_39908332 . 0/1:99:164,0,181 . . 19 39908214 rs73033371 C T NON_SYNONYMOUS_CODING PLEKHG2 MODERATE|MISSENSE|gCg/gTg|A255V|1386|PLEKHG2|protein_coding|CODING|ENST00000409794|exon_19_39908195_39908332 . 0/1:99:164,0,181 . . 19 39908214 rs73033371 C T NON_SYNONYMOUS_CODING PLEKHG2 MODERATE|MISSENSE|gCg/gTg|A255V|577|PLEKHG2|protein_coding|CODING|ENST00000378550|exon_19_39908195_39908332 . 0/1:99:164,0,181 . . 19 39908214 rs73033371 C T NON_SYNONYMOUS_CODING PLEKHG2 MODERATE|MISSENSE|gCg/gTg|A255V|577|PLEKHG2|protein_coding|CODING|ENST00000409797|exon_19_39908195_39908332 . 0/1:99:164,0,181 . . 19 40196627 rs72480733 G A NON_SYNONYMOUS_CODING LGALS14 MODERATE|MISSENSE|cGt/cAt|R27H|168|LGALS14|protein_coding|CODING|ENST00000360675|exon_19_40196345_40196649 . . . 0/1:99:255,0,208 19 40376880 rs75009537 T C NON_SYNONYMOUS_CODING FCGBP MODERATE|MISSENSE|Aag/Gag|K3848E|5405|FCGBP|protein_coding|CODING|ENST00000221347|exon_19_40376631_40377225 0/1:72:69,0,238 0/1:99:113,0,152 . 0/1:99:140,0,99 19 40402235 rs139552350 G C NON_SYNONYMOUS_CODING FCGBP MODERATE|MISSENSE|Cag/Gag|Q1722E|5405|FCGBP|protein_coding|CODING|ENST00000221347|exon_19_40402134_40402471 . . 0/1:61:58,0,102 . 19 40581570 rs143775764 C T NON_SYNONYMOUS_CODING ZNF780A MODERATE|MISSENSE|cGt/cAt|R260H|641|ZNF780A|protein_coding|CODING|ENST00000340963|exon_19_40580423_40582116 . 0/1:99:255,0,255 . . 19 40581570 rs143775764 C T NON_SYNONYMOUS_CODING ZNF780A MODERATE|MISSENSE|cGt/cAt|R260H|641|ZNF780A|protein_coding|CODING|ENST00000450241|exon_19_40575059_40582116 . 0/1:99:255,0,255 . . 19 40581570 rs143775764 C T NON_SYNONYMOUS_CODING ZNF780A MODERATE|MISSENSE|cGt/cAt|R261H|642|ZNF780A|protein_coding|CODING|ENST00000455521|exon_19_40578900_40582116 . 0/1:99:255,0,255 . . 19 40886457 rs55801979 G A NON_SYNONYMOUS_CODING HIPK4 MODERATE|MISSENSE|Cgc/Tgc|R446C|581|HIPK4|protein_coding|CODING|ENST00000452139|exon_19_40886230_40887075 . 0/1:99:192,0,187 . . 19 40886457 rs55801979 G A NON_SYNONYMOUS_CODING HIPK4 MODERATE|MISSENSE|Cgc/Tgc|R481C|616|HIPK4|protein_coding|CODING|ENST00000291823|exon_19_40886230_40887075 . 0/1:99:192,0,187 . . 19 40978640 rs73931308 G A NON_SYNONYMOUS_CODING SPTBN4 MODERATE|MISSENSE|Gct/Act|A38T|1309|SPTBN4|protein_coding|CODING|ENST00000344104|exon_19_40978514_40978697 0/1:99:141,0,185 . . 0/1:99:132,0,177 19 40978640 rs73931308 G A NON_SYNONYMOUS_CODING SPTBN4 MODERATE|MISSENSE|Gct/Act|A38T|2154|SPTBN4|protein_coding|CODING|ENST00000338932|exon_19_40978514_40978697 0/1:99:141,0,185 . . 0/1:99:132,0,177 19 40978640 rs73931308 G A NON_SYNONYMOUS_CODING SPTBN4 MODERATE|MISSENSE|Gct/Act|A38T|2564|SPTBN4|protein_coding|CODING|ENST00000352632|exon_19_40978514_40978697 0/1:99:141,0,185 . . 0/1:99:132,0,177 19 40978640 rs73931308 G A NON_SYNONYMOUS_CODING SPTBN4 MODERATE|MISSENSE|Gct/Act|A38T|2564|SPTBN4|protein_coding|CODING|ENST00000428507|exon_19_40978514_40978697 0/1:99:141,0,185 . . 0/1:99:132,0,177 19 41025846 . C T NON_SYNONYMOUS_CODING SPTBN4 MODERATE|MISSENSE|Cgc/Tgc|R1148C|1309|SPTBN4|protein_coding|CODING|ENST00000344104|exon_19_41025308_41026058 0/1:99:106,0,211 . . . 19 41025846 . C T NON_SYNONYMOUS_CODING SPTBN4 MODERATE|MISSENSE|Cgc/Tgc|R1148C|2154|SPTBN4|protein_coding|CODING|ENST00000338932|exon_19_41025308_41026058 0/1:99:106,0,211 . . . 19 41025846 . C T NON_SYNONYMOUS_CODING SPTBN4 MODERATE|MISSENSE|Cgc/Tgc|R1148C|2564|SPTBN4|protein_coding|CODING|ENST00000352632|exon_19_41025308_41026058 0/1:99:106,0,211 . . . 19 41025846 . C T NON_SYNONYMOUS_CODING SPTBN4 MODERATE|MISSENSE|Cgc/Tgc|R1148C|2564|SPTBN4|protein_coding|CODING|ENST00000428507|exon_19_41025308_41026058 0/1:99:106,0,211 . . . 19 41073863 rs61733984 C T NON_SYNONYMOUS_CODING SPTBN4 MODERATE|MISSENSE|Cca/Tca|P2211S|2564|SPTBN4|protein_coding|CODING|ENST00000352632|exon_19_41073569_41074188 0/1:99:207,0,134 . . . 19 41073863 rs61733984 C T NON_SYNONYMOUS_CODING SPTBN4 MODERATE|MISSENSE|Cca/Tca|P2211S|2564|SPTBN4|protein_coding|CODING|ENST00000428507|exon_19_41073569_41074188 0/1:99:207,0,134 . . . 19 41073863 rs61733984 C T NON_SYNONYMOUS_CODING SPTBN4 MODERATE|MISSENSE|Cca/Tca|P954S|1307|SPTBN4|protein_coding|CODING|ENST00000392025|exon_19_41073569_41074188 0/1:99:207,0,134 . . . 19 41074162 rs118048177 G A NON_SYNONYMOUS_CODING SPTBN4 MODERATE|MISSENSE|atG/atA|M1053I|1307|SPTBN4|protein_coding|CODING|ENST00000392025|exon_19_41073569_41074188 0/1:84:81,0,188 . . . 19 41074162 rs118048177 G A NON_SYNONYMOUS_CODING SPTBN4 MODERATE|MISSENSE|atG/atA|M2310I|2564|SPTBN4|protein_coding|CODING|ENST00000352632|exon_19_41073569_41074188 0/1:84:81,0,188 . . . 19 41074162 rs118048177 G A NON_SYNONYMOUS_CODING SPTBN4 MODERATE|MISSENSE|atG/atA|M2310I|2564|SPTBN4|protein_coding|CODING|ENST00000428507|exon_19_41073569_41074188 0/1:84:81,0,188 . . . 19 41250585 rs73047039 G A NON_SYNONYMOUS_CODING C19orf54 MODERATE|MISSENSE|Cgg/Tgg|R2W|139|C19orf54|protein_coding|CODING|ENST00000339153|exon_19_41250464_41250588 0/1:99:168,0,151 . . . 19 41354171 rs56256500 G T NON_SYNONYMOUS_CODING CYP2A6 MODERATE|MISSENSE|Cgc/Agc|R203S|494|CYP2A6|protein_coding|CODING|ENST00000301141|exon_19_41354124_41354284 . . . 0/1:97:94,0,255 19 41356246 rs28399435 C T NON_SYNONYMOUS_CODING CYP2A6 MODERATE|MISSENSE|aGc/aAc|S29N|494|CYP2A6|protein_coding|CODING|ENST00000301141|exon_19_41356152_41356352 . . 0/1:99:252,0,246 . 19 41383849 rs117244518 C G NON_SYNONYMOUS_CODING CYP2A7 MODERATE|MISSENSE|aGc/aCc|S243T|443|CYP2A7|protein_coding|CODING|ENST00000291764|exon_19_41383757_41383898 . 0/1:99:255,0,255 . . 19 41383849 rs117244518 C G NON_SYNONYMOUS_CODING CYP2A7 MODERATE|MISSENSE|aGc/aCc|S294T|494|CYP2A7|protein_coding|CODING|ENST00000301146|exon_19_41383757_41383898 . 0/1:99:255,0,255 . . 19 41404397 rs140730836 G A NON_SYNONYMOUS_CODING CYP2G1P MODERATE|MISSENSE|cGc/cAc|R81H|169|CYP2G1P|protein_coding|CODING|ENST00000252909|exon_19_41404342_41404483 . 0/1:99:220,0,255 . . 19 41415818 rs78388975 G A NON_SYNONYMOUS_CODING AC008537.1 MODERATE|MISSENSE|Cgg/Tgg|R106W|219|AC008537.1|protein_coding|CODING|ENST00000412510|exon_19_41415798_41415982 0/1:99:231,0,222 . . . 19 41497274 rs8192709 C T NON_SYNONYMOUS_CODING CYP2B6 MODERATE|MISSENSE|Cgc/Tgc|R22C|491|CYP2B6|protein_coding|CODING|ENST00000324071|exon_19_41497204_41497381 . 0/1:99:223,0,251 . 0/1:99:162,0,255 19 41509919 . A G NON_SYNONYMOUS_CODING CYP2B6 MODERATE|MISSENSE|tAt/tGt|Y22C|291|CYP2B6|protein_coding|CODING|ENST00000330446|exon_19_41509851_41510068 0/1:99:140,0,186 . . . 19 41509919 . A G NON_SYNONYMOUS_CODING CYP2B6 MODERATE|MISSENSE|tAt/tGt|Y62C|491|CYP2B6|protein_coding|CODING|ENST00000324071|exon_19_41509906_41510068 0/1:99:140,0,186 . . . 19 41533009 rs10426482 T C NON_SYNONYMOUS_CODING CYP2A7P1 MODERATE|MISSENSE|tAt/tGt|Y110C|268|CYP2A7P1|protein_coding|CODING|ENST00000301171|exon_19_41533007_41533169 . 0/1:99:124,0,155 . . 19 41533028 rs10424952 C T NON_SYNONYMOUS_CODING CYP2A7P1 MODERATE|MISSENSE|Gac/Aac|D104N|268|CYP2A7P1|protein_coding|CODING|ENST00000301171|exon_19_41533007_41533169 . 0/1:99:125,0,175 . . 19 41533087 rs10426686 T C NON_SYNONYMOUS_CODING CYP2A7P1 MODERATE|MISSENSE|aAg/aGg|K84R|268|CYP2A7P1|protein_coding|CODING|ENST00000301171|exon_19_41533007_41533169 . 0/1:73:70,0,255 . . 19 41533112 rs10425152 C T NON_SYNONYMOUS_CODING CYP2A7P1 MODERATE|MISSENSE|Gtg/Atg|V76M|268|CYP2A7P1|protein_coding|CODING|ENST00000301171|exon_19_41533007_41533169 . 0/1:99:120,0,255 . . 19 41633980 rs7246981 C T NON_SYNONYMOUS_CODING CYP2F1 MODERATE|MISSENSE|cCg/cTg|P490L|491|CYP2F1|protein_coding|CODING|ENST00000331105|exon_19_41633806_41634159 . . 0/1:99:247,0,255 0/1:99:243,0,170 19 41847860 rs1800472 G A NON_SYNONYMOUS_CODING TGFB1 MODERATE|MISSENSE|aCc/aTc|T263I|390|TGFB1|protein_coding|CODING|ENST00000221930|exon_19_41847788_41847935 . . 0/1:99:196,0,255 . 19 41916549 rs11549936 C A NON_SYNONYMOUS_CODING BCKDHA MODERATE|MISSENSE|cCc/cAc|P39H|327|BCKDHA|protein_coding|CODING|ENST00000542943|exon_19_41916542_41916721 . . 0/1:99:228,0,255 . 19 41916549 rs11549936 C A NON_SYNONYMOUS_CODING BCKDHA MODERATE|MISSENSE|cCc/cAc|P39H|403|BCKDHA|protein_coding|CODING|ENST00000378196|exon_19_41916542_41916721 . . 0/1:99:228,0,255 . 19 41916549 rs11549936 C A NON_SYNONYMOUS_CODING BCKDHA MODERATE|MISSENSE|cCc/cAc|P39H|445|BCKDHA|protein_coding|CODING|ENST00000269980|exon_19_41916542_41916721 . . 0/1:99:228,0,255 . 19 41916549 rs11549936 C A NON_SYNONYMOUS_CODING CTC-435M10.3.1 MODERATE|MISSENSE|cCc/cAc|P73H|479|CTC-435M10.3.1|protein_coding|CODING|ENST00000540732|exon_19_41916542_41916721 . . 0/1:99:228,0,255 . 19 41920030 rs34442879 C T NON_SYNONYMOUS_CODING BCKDHA MODERATE|MISSENSE|aCg/aTg|T122M|327|BCKDHA|protein_coding|CODING|ENST00000542943|exon_19_41919954_41920062 . 0/1:99:210,0,226 . . 19 41920030 rs34442879 C T NON_SYNONYMOUS_CODING BCKDHA MODERATE|MISSENSE|aCg/aTg|T129M|448|BCKDHA|protein_coding|CODING|ENST00000457836|exon_19_41919954_41920062 . 0/1:99:210,0,226 . . 19 41920030 rs34442879 C T NON_SYNONYMOUS_CODING BCKDHA MODERATE|MISSENSE|aCg/aTg|T151M|403|BCKDHA|protein_coding|CODING|ENST00000378196|exon_19_41919954_41920062 . 0/1:99:210,0,226 . . 19 41920030 rs34442879 C T NON_SYNONYMOUS_CODING BCKDHA MODERATE|MISSENSE|aCg/aTg|T151M|445|BCKDHA|protein_coding|CODING|ENST00000269980|exon_19_41919954_41920062 . 0/1:99:210,0,226 . . 19 41920030 rs34442879 C T NON_SYNONYMOUS_CODING CTC-435M10.3.1 MODERATE|MISSENSE|aCg/aTg|T185M|479|CTC-435M10.3.1|protein_coding|CODING|ENST00000540732|exon_19_41919954_41920062 . 0/1:99:210,0,226 . . 19 42213820 . A G NON_SYNONYMOUS_CODING CEACAM5 MODERATE|MISSENSE|Agt/Ggt|S96G|420|CEACAM5|protein_coding|CODING|ENST00000378181|exon_19_42213599_42213876 . 0/1:99:255,0,175 . . 19 42213820 . A G NON_SYNONYMOUS_CODING CEACAM5 MODERATE|MISSENSE|Agt/Ggt|S96G|702|CEACAM5|protein_coding|CODING|ENST00000221992|exon_19_42213599_42213958 . 0/1:99:255,0,175 . . 19 42213820 . A G NON_SYNONYMOUS_CODING CEACAM5 MODERATE|MISSENSE|Agt/Ggt|S96G|702|CEACAM5|protein_coding|CODING|ENST00000405816|exon_19_42213599_42213958 . 0/1:99:255,0,175 . . 19 42231159 rs9621 G A NON_SYNONYMOUS_CODING CEACAM5 MODERATE|MISSENSE|Gga/Aga|G396R|420|CEACAM5|protein_coding|CODING|ENST00000378181|exon_19_42231154_42231272 . . . 0/1:99:190,0,194 19 42231159 rs9621 G A NON_SYNONYMOUS_CODING CEACAM5 MODERATE|MISSENSE|Gga/Aga|G678R|702|CEACAM5|protein_coding|CODING|ENST00000221992|exon_19_42231154_42231272 . . . 0/1:99:190,0,194 19 42231159 rs9621 G A NON_SYNONYMOUS_CODING CEACAM5 MODERATE|MISSENSE|Gga/Aga|G678R|702|CEACAM5|protein_coding|CODING|ENST00000405816|exon_19_42231154_42231272 . . . 0/1:99:190,0,194 19 42928764 . G C NON_SYNONYMOUS_CODING AC011497.1 MODERATE|MISSENSE|caG/caC|Q106H|138|AC011497.1|protein_coding|CODING|ENST00000457234|exon_19_42928421_42929356 . 0/1:55:233,0,52 . . 19 42930721 rs34996020 G A NON_SYNONYMOUS_CODING LIPE MODERATE|MISSENSE|gCc/gTc|A194V|1076|LIPE|protein_coding|CODING|ENST00000244289|exon_19_42930419_42931578 . 0/1:99:255,0,235 . . 19 43371294 rs2353115 C A NON_SYNONYMOUS_CODING PSG1 MODERATE|MISSENSE|Gtt/Ttt|V325F|326|PSG1|protein_coding|CODING|ENST00000403380|exon_19_43370635_43371302 0/1:99:243,0,255 . . 0/1:99:240,0,228 19 43371294 rs2353115 C A NON_SYNONYMOUS_CODING PSG1 MODERATE|MISSENSE|Gtt/Ttt|V418F|419|PSG1|protein_coding|CODING|ENST00000436291|exon_19_43370616_43371302 0/1:99:243,0,255 . . 0/1:99:240,0,228 19 43372938 rs143678340 G C NON_SYNONYMOUS_CODING PSG1 MODERATE|MISSENSE|Cgc/Ggc|R227G|326|PSG1|protein_coding|CODING|ENST00000403380|exon_19_43372908_43373186 . . 0/1:99:149,0,173 . 19 43372938 rs143678340 G C NON_SYNONYMOUS_CODING PSG1 MODERATE|MISSENSE|Cgc/Ggc|R320G|419|PSG1|protein_coding|CODING|ENST00000436291|exon_19_43372908_43373186 . . 0/1:99:149,0,173 . 19 43372938 rs143678340 G C NON_SYNONYMOUS_CODING PSG1 MODERATE|MISSENSE|Cgc/Ggc|R320G|426|PSG1|protein_coding|CODING|ENST00000244296|exon_19_43372908_43373186 . . 0/1:99:149,0,173 . 19 43372938 rs143678340 G C NON_SYNONYMOUS_CODING PSG1 MODERATE|MISSENSE|Cgc/Ggc|R320G|428|PSG1|protein_coding|CODING|ENST00000312439|exon_19_43372908_43373186 . . 0/1:99:149,0,173 . 19 43372941 rs28374299 T C NON_SYNONYMOUS_CODING PSG1 MODERATE|MISSENSE|Atc/Gtc|I226V|326|PSG1|protein_coding|CODING|ENST00000403380|exon_19_43372908_43373186 0/1:99:172,0,238 . . 0/1:99:112,0,165 19 43372941 rs28374299 T C NON_SYNONYMOUS_CODING PSG1 MODERATE|MISSENSE|Atc/Gtc|I319V|419|PSG1|protein_coding|CODING|ENST00000436291|exon_19_43372908_43373186 0/1:99:172,0,238 . . 0/1:99:112,0,165 19 43372941 rs28374299 T C NON_SYNONYMOUS_CODING PSG1 MODERATE|MISSENSE|Atc/Gtc|I319V|426|PSG1|protein_coding|CODING|ENST00000244296|exon_19_43372908_43373186 0/1:99:172,0,238 . . 0/1:99:112,0,165 19 43372941 rs28374299 T C NON_SYNONYMOUS_CODING PSG1 MODERATE|MISSENSE|Atc/Gtc|I319V|428|PSG1|protein_coding|CODING|ENST00000312439|exon_19_43372908_43373186 0/1:99:172,0,238 . . 0/1:99:112,0,165 19 43382368 rs707745 T G NON_SYNONYMOUS_CODING PSG1 MODERATE|MISSENSE|Acc/Ccc|T43P|142|PSG1|protein_coding|CODING|ENST00000270059|exon_19_43382065_43382430 0/1:99:139,0,251 . . 0/1:99:130,0,213 19 43382368 rs707745 T G NON_SYNONYMOUS_CODING PSG1 MODERATE|MISSENSE|Acc/Ccc|T43P|326|PSG1|protein_coding|CODING|ENST00000403380|exon_19_43382065_43382430 0/1:99:139,0,251 . . 0/1:99:130,0,213 19 43382368 rs707745 T G NON_SYNONYMOUS_CODING PSG1 MODERATE|MISSENSE|Acc/Ccc|T43P|419|PSG1|protein_coding|CODING|ENST00000436291|exon_19_43382065_43382430 0/1:99:139,0,251 . . 0/1:99:130,0,213 19 43382368 rs707745 T G NON_SYNONYMOUS_CODING PSG1 MODERATE|MISSENSE|Acc/Ccc|T43P|426|PSG1|protein_coding|CODING|ENST00000244296|exon_19_43382065_43382430 0/1:99:139,0,251 . . 0/1:99:130,0,213 19 43382368 rs707745 T G NON_SYNONYMOUS_CODING PSG1 MODERATE|MISSENSE|Acc/Ccc|T43P|428|PSG1|protein_coding|CODING|ENST00000312439|exon_19_43382065_43382430 0/1:99:139,0,251 . . 0/1:99:130,0,213 19 43382374 rs707744 C G NON_SYNONYMOUS_CODING PSG1 MODERATE|MISSENSE|Gag/Cag|E41Q|142|PSG1|protein_coding|CODING|ENST00000270059|exon_19_43382065_43382430 0/1:99:136,0,245 . . 0/1:99:131,0,195 19 43382374 rs707744 C G NON_SYNONYMOUS_CODING PSG1 MODERATE|MISSENSE|Gag/Cag|E41Q|326|PSG1|protein_coding|CODING|ENST00000403380|exon_19_43382065_43382430 0/1:99:136,0,245 . . 0/1:99:131,0,195 19 43382374 rs707744 C G NON_SYNONYMOUS_CODING PSG1 MODERATE|MISSENSE|Gag/Cag|E41Q|419|PSG1|protein_coding|CODING|ENST00000436291|exon_19_43382065_43382430 0/1:99:136,0,245 . . 0/1:99:131,0,195 19 43382374 rs707744 C G NON_SYNONYMOUS_CODING PSG1 MODERATE|MISSENSE|Gag/Cag|E41Q|426|PSG1|protein_coding|CODING|ENST00000244296|exon_19_43382065_43382430 0/1:99:136,0,245 . . 0/1:99:131,0,195 19 43382374 rs707744 C G NON_SYNONYMOUS_CODING PSG1 MODERATE|MISSENSE|Gag/Cag|E41Q|428|PSG1|protein_coding|CODING|ENST00000312439|exon_19_43382065_43382430 0/1:99:136,0,245 . . 0/1:99:131,0,195 19 43530473 rs74644375 G C NON_SYNONYMOUS_CODING PSG11 MODERATE|MISSENSE|Ctc/Gtc|L18V|213|PSG11|protein_coding|CODING|ENST00000306322|exon_19_43530461_43530631 0/1:99:202,0,204 . . 0/1:99:117,0,207 19 43530473 rs74644375 G C NON_SYNONYMOUS_CODING PSG11 MODERATE|MISSENSE|Ctc/Gtc|L18V|213|PSG11|protein_coding|CODING|ENST00000403486|exon_19_43530461_43530618 0/1:99:202,0,204 . . 0/1:99:117,0,207 19 43530473 rs74644375 G C NON_SYNONYMOUS_CODING PSG11 MODERATE|MISSENSE|Ctc/Gtc|L18V|335|PSG11|protein_coding|CODING|ENST00000320078|exon_19_43530461_43530664 0/1:99:202,0,204 . . 0/1:99:117,0,207 19 43530473 rs74644375 G C NON_SYNONYMOUS_CODING PSG11 MODERATE|MISSENSE|Ctc/Gtc|L18V|335|PSG11|protein_coding|CODING|ENST00000401740|exon_19_43530461_43530628 0/1:99:202,0,204 . . 0/1:99:117,0,207 19 43702335 rs140068216 C G NON_SYNONYMOUS_CODING PSG4 MODERATE|MISSENSE|Gcc/Ccc|A175P|326|PSG4|protein_coding|CODING|ENST00000244295|exon_19_43702149_43702427 . . . 0/1:99:244,0,221 19 43702335 rs140068216 C G NON_SYNONYMOUS_CODING PSG4 MODERATE|MISSENSE|Gcc/Ccc|A175P|419|PSG4|protein_coding|CODING|ENST00000405312|exon_19_43702149_43702427 . . . 0/1:99:244,0,221 19 43702335 rs140068216 C G NON_SYNONYMOUS_CODING PSG4 MODERATE|MISSENSE|Gcc/Ccc|A191P|251|PSG4|protein_coding|CODING|ENST00000451895|exon_19_43702149_43702427 . . . 0/1:99:244,0,221 19 43762302 . C A NON_SYNONYMOUS_CODING PSG9 MODERATE|MISSENSE|tGg/tTg|W339L|402|PSG9|protein_coding|CODING|ENST00000244293|exon_19_43761312_43762608 . 0/1:99:241,0,255 . . 19 43763144 rs2355447 C T NON_SYNONYMOUS_CODING PSG9 MODERATE|MISSENSE|Ggg/Agg|G192R|333|PSG9|protein_coding|CODING|ENST00000443718|exon_19_43763009_43763287 . 0/1:99:255,0,255 . . 19 43763144 rs2355447 C T NON_SYNONYMOUS_CODING PSG9 MODERATE|MISSENSE|Ggg/Agg|G246R|387|PSG9|protein_coding|CODING|ENST00000435220|exon_19_43763009_43763287 . 0/1:99:255,0,255 . . 19 43763144 rs2355447 C T NON_SYNONYMOUS_CODING PSG9 MODERATE|MISSENSE|Ggg/Agg|G285R|426|PSG9|protein_coding|CODING|ENST00000270077|exon_19_43763009_43763287 . 0/1:99:255,0,255 . . 19 43857873 rs45441892 G C NON_SYNONYMOUS_CODING CD177 MODERATE|MISSENSE|Gcg/Ccg|A3P|145|CD177|protein_coding|CODING|ENST00000378012|exon_19_43857825_43857918 1/1:99:255,93,0 0/1:99:194,0,255 . 0/1:99:237,0,188 19 43857873 rs45441892 G C NON_SYNONYMOUS_CODING CD177 MODERATE|MISSENSE|Gcg/Ccg|A3P|145|CD177|protein_coding|CODING|ENST00000457794|exon_19_43857867_43857918 1/1:99:255,93,0 0/1:99:194,0,255 . 0/1:99:237,0,188 19 43857873 rs45441892 G C NON_SYNONYMOUS_CODING CD177 MODERATE|MISSENSE|Gcg/Ccg|A3P|248|CD177|protein_coding|CODING|ENST00000378009|exon_19_43857825_43857918 1/1:99:255,93,0 0/1:99:194,0,255 . 0/1:99:237,0,188 19 43990795 rs117243018 G A NON_SYNONYMOUS_CODING PHLDB3 MODERATE|MISSENSE|gCc/gTc|A465V|640|PHLDB3|protein_coding|CODING|ENST00000292140|exon_19_43990761_43990848 . . 0/1:99:109,0,218 . 19 44001379 rs11083711 T C NON_SYNONYMOUS_CODING PHLDB3 MODERATE|MISSENSE|cAg/cGg|Q239R|640|PHLDB3|protein_coding|CODING|ENST00000292140|exon_19_44001270_44001431 . . 0/1:99:216,0,196 . 19 44116595 . G A NON_SYNONYMOUS_CODING SRRM5 MODERATE|MISSENSE|Gac/Aac|D108N|715|SRRM5|protein_coding|CODING|ENST00000417606|exon_19_44116253_44118649 . . . 0/1:99:196,0,133 19 44116595 . G A NON_SYNONYMOUS_CODING SRRM5 MODERATE|MISSENSE|Gac/Aac|D123N|730|SRRM5|protein_coding|CODING|ENST00000526798|exon_19_44116179_44118649 . . . 0/1:99:196,0,133 19 44352639 rs1061768 G A NON_SYNONYMOUS_CODING ZNF283 MODERATE|MISSENSE|cGt/cAt|R629H|679|ZNF283|protein_coding|CODING|ENST00000324461|exon_19_44351091_44353307 . . 0/1:99:255,0,255 . 19 44376937 rs76311065 G A NON_SYNONYMOUS_CODING ZNF404 MODERATE|MISSENSE|Cgt/Tgt|R475C|550|ZNF404|protein_coding|CODING|ENST00000324394|exon_19_44376519_44378229 . . 0/1:99:205,0,255 . 19 44418776 rs60068033 G A NON_SYNONYMOUS_CODING ZNF45 MODERATE|MISSENSE|aCg/aTg|T271M|538|ZNF45|protein_coding|CODING|ENST00000328762|exon_19_44418271_44419352 0/1:99:252,0,255 . . . 19 44418776 rs60068033 G A NON_SYNONYMOUS_CODING ZNF45 MODERATE|MISSENSE|aCg/aTg|T271M|682|ZNF45|protein_coding|CODING|ENST00000269973|exon_19_44416776_44419352 0/1:99:252,0,255 . . . 19 44470719 rs74373493 T A NON_SYNONYMOUS_CODING ZNF221 MODERATE|MISSENSE|agT/agA|S355R|617|ZNF221|protein_coding|CODING|ENST00000251269|exon_19_44469956_44471752 0/1:99:231,0,255 . . . 19 44605324 rs118149610 A G NON_SYNONYMOUS_CODING ZNF224 MODERATE|MISSENSE|Agg/Ggg|R61G|707|ZNF224|protein_coding|CODING|ENST00000336976|exon_19_44605286_44605378 . 0/1:99:255,0,255 . . 19 44605324 rs118149610 A G NON_SYNONYMOUS_CODING ZNF224 MODERATE|MISSENSE|Agg/Ggg|R61G|77|ZNF224|protein_coding|CODING|ENST00000269981|exon_19_44605286_44605378 . 0/1:99:255,0,255 . . 19 44636094 . C T NON_SYNONYMOUS_CODING ZNF225 MODERATE|MISSENSE|Ctt/Ttt|L407F|670|ZNF225|protein_coding|CODING|ENST00000544184|exon_19_44635003_44637066 . . . 0/1:99:255,0,236 19 44636094 . C T NON_SYNONYMOUS_CODING ZNF225 MODERATE|MISSENSE|Ctt/Ttt|L443F|706|ZNF225|protein_coding|CODING|ENST00000262894|exon_19_44635003_44637255 . . . 0/1:99:255,0,236 19 44791447 rs36119289 T A NON_SYNONYMOUS_CODING ZNF235 MODERATE|MISSENSE|gAt/gTt|D714V|738|ZNF235|protein_coding|CODING|ENST00000291182|exon_19_44790501_44793349 . . . 0/1:99:255,0,195 19 44791447 rs36119289 T A NON_SYNONYMOUS_CODING ZNF235 MODERATE|MISSENSE|gAt/gTt|D714V|738|ZNF235|protein_coding|CODING|ENST00000391957|exon_19_44790501_44793349 . . . 0/1:99:255,0,195 19 44932521 rs55700709 C T NON_SYNONYMOUS_CODING ZNF229 MODERATE|MISSENSE|cGg/cAg|R812Q|825|ZNF229|protein_coding|CODING|ENST00000291187|exon_19_44930426_44934717 . . 0/1:99:255,0,255 . 19 44933706 rs57014690 C T NON_SYNONYMOUS_CODING ZNF229 MODERATE|MISSENSE|aGc/aAc|S417N|825|ZNF229|protein_coding|CODING|ENST00000291187|exon_19_44930426_44934717 0/1:99:232,0,193 . . . 19 45202640 rs2119660 G T NON_SYNONYMOUS_CODING CEACAM16 MODERATE|MISSENSE|Gtc/Ttc|V37F|486|CEACAM16|protein_coding|CODING|ENST00000396750|exon_19_45202591_45202721 . . 0/1:99:209,0,255 . 19 45596635 rs75282681 A G NON_SYNONYMOUS_CODING PPP1R37 MODERATE|MISSENSE|Att/Gtt|I18V|185|PPP1R37|protein_coding|CODING|ENST00000544069|exon_19_45596467_45596785 0/1:99:140,0,146 . . . 19 45596635 rs75282681 A G NON_SYNONYMOUS_CODING PPP1R37 MODERATE|MISSENSE|Att/Gtt|I18V|687|PPP1R37|protein_coding|CODING|ENST00000421905|exon_19_45596218_45596785 0/1:99:140,0,146 . . . 19 45596635 rs75282681 A G NON_SYNONYMOUS_CODING PPP1R37 MODERATE|MISSENSE|Att/Gtt|I18V|691|PPP1R37|protein_coding|CODING|ENST00000221462|exon_19_45596220_45596785 0/1:99:140,0,146 . . . 19 45655647 rs117934605 G T NON_SYNONYMOUS_CODING NKPD1 MODERATE|MISSENSE|gCg/gAg|A461E|531|NKPD1|protein_coding|CODING|ENST00000429338|exon_19_45655613_45657028 0/1:99:184,0,205 . . . 19 45655647 rs117934605 G T NON_SYNONYMOUS_CODING NKPD1 MODERATE|MISSENSE|gCg/gAg|A461E|610|NKPD1|protein_coding|CODING|ENST00000438936|exon_19_45655161_45657033 0/1:99:184,0,205 . . . 19 45655647 rs117934605 G T NON_SYNONYMOUS_CODING NKPD1 MODERATE|MISSENSE|gCg/gAg|A683E|832|NKPD1|protein_coding|CODING|ENST00000317951|exon_19_45653008_45657033 0/1:99:184,0,205 . . . 19 45851985 rs199909048 C A NON_SYNONYMOUS_CODING KLC3 MODERATE|MISSENSE|caC/caA|H287Q|504|KLC3|protein_coding|CODING|ENST00000391946|exon_19_45851904_45851991 . . . 0/1:99:210,0,178 19 45851985 rs199909048 C A NON_SYNONYMOUS_CODING KLC3 MODERATE|MISSENSE|caC/caA|H301Q|518|KLC3|protein_coding|CODING|ENST00000470402|exon_19_45851904_45851991 . . . 0/1:99:210,0,178 19 46124517 rs3816045 C T NON_SYNONYMOUS_CODING EML2 MODERATE|MISSENSE|cGc/cAc|R357H|649|EML2|protein_coding|CODING|ENST00000245925|exon_19_46124465_46124590 0/1:99:185,0,252 . . . 19 46124517 rs3816045 C T NON_SYNONYMOUS_CODING EML2 MODERATE|MISSENSE|cGc/cAc|R504H|796|EML2|protein_coding|CODING|ENST00000536630|exon_19_46124465_46124590 0/1:99:185,0,252 . . . 19 46124517 rs3816045 C T NON_SYNONYMOUS_CODING EML2 MODERATE|MISSENSE|cGc/cAc|R515H|603|EML2|protein_coding|CODING|ENST00000399594|exon_19_46124465_46124590 0/1:99:185,0,252 . . . 19 46124517 rs3816045 C T NON_SYNONYMOUS_CODING EML2 MODERATE|MISSENSE|cGc/cAc|R515H|807|EML2|protein_coding|CODING|ENST00000448055|exon_19_46124465_46124517 0/1:99:185,0,252 . . . 19 46206261 rs143525608 T C NON_SYNONYMOUS_CODING QPCTL MODERATE|MISSENSE|tTg/tCg|L274S|288|QPCTL|protein_coding|CODING|ENST00000366382|exon_19_46206162_46207240 . 0/1:99:164,0,195 . . 19 46206261 rs143525608 T C NON_SYNONYMOUS_CODING QPCTL MODERATE|MISSENSE|tTg/tCg|L368S|382|QPCTL|protein_coding|CODING|ENST00000012049|exon_19_46206162_46207240 . 0/1:99:164,0,195 . . 19 46214701 rs35255751 A T NON_SYNONYMOUS_CODING FBXO46 MODERATE|MISSENSE|Tat/Aat|Y131N|202|FBXO46|protein_coding|CODING|ENST00000539236|exon_19_46213892_46214713 . 0/1:99:211,0,198 . . 19 46216642 rs11537711 G T NON_SYNONYMOUS_CODING FBXO46 MODERATE|MISSENSE|Cct/Act|P38T|603|FBXO46|protein_coding|CODING|ENST00000317683|exon_19_46213887_46216831 . . . 0/1:90:87,0,116 19 46248557 rs75987583 C T NON_SYNONYMOUS_CODING AC074212.3.1 MODERATE|MISSENSE|aCg/aTg|T95M|431|AC074212.3.1|protein_coding|CODING|ENST00000457052|exon_19_46248450_46248579 . . . 0/1:99:255,0,201 19 46253993 rs78228714 G A NON_SYNONYMOUS_CODING AC074212.3.1 MODERATE|MISSENSE|Gcc/Acc|A123T|431|AC074212.3.1|protein_coding|CODING|ENST00000457052|exon_19_46253933_46254044 . . 0/1:99:255,0,229 . 19 46275976 rs527221 G C NON_SYNONYMOUS_CODING DMPK MODERATE|MISSENSE|Ctg/Gtg|L418V|530|DMPK|protein_coding|CODING|ENST00000354227|exon_19_46275899_46276010 . 0/1:99:255,0,204 . . 19 46275976 rs527221 G C NON_SYNONYMOUS_CODING DMPK MODERATE|MISSENSE|Ctg/Gtg|L418V|621|DMPK|protein_coding|CODING|ENST00000377750|exon_19_46275899_46276010 . 0/1:99:255,0,204 . . 19 46275976 rs527221 G C NON_SYNONYMOUS_CODING DMPK MODERATE|MISSENSE|Ctg/Gtg|L418V|624|DMPK|protein_coding|CODING|ENST00000447742|exon_19_46275899_46276010 . 0/1:99:255,0,204 . . 19 46275976 rs527221 G C NON_SYNONYMOUS_CODING DMPK MODERATE|MISSENSE|Ctg/Gtg|L418V|625|DMPK|protein_coding|CODING|ENST00000458663|exon_19_46275899_46276010 . 0/1:99:255,0,204 . . 19 46275976 rs527221 G C NON_SYNONYMOUS_CODING DMPK MODERATE|MISSENSE|Ctg/Gtg|L423V|629|DMPK|protein_coding|CODING|ENST00000291270|exon_19_46275899_46276010 . 0/1:99:255,0,204 . . 19 46275976 rs527221 G C NON_SYNONYMOUS_CODING DMPK MODERATE|MISSENSE|Ctg/Gtg|L433V|609|DMPK|protein_coding|CODING|ENST00000348168|exon_19_46275899_46276010 . 0/1:99:255,0,204 . . 19 46275976 rs527221 G C NON_SYNONYMOUS_CODING DMPK MODERATE|MISSENSE|Ctg/Gtg|L433V|639|DMPK|protein_coding|CODING|ENST00000343373|exon_19_46275899_46276010 . 0/1:99:255,0,204 . . 19 46275976 rs527221 G C NON_SYNONYMOUS_CODING DMPK MODERATE|MISSENSE|Ctg/Gtg|L449V|655|DMPK|protein_coding|CODING|ENST00000342805|exon_19_46275899_46276010 . 0/1:99:255,0,204 . . 19 46808371 rs4802306 C T NON_SYNONYMOUS_CODING HIF3A MODERATE|MISSENSE|Ccc/Tcc|P58S|147|HIF3A|protein_coding|CODING|ENST00000533145|exon_19_46808356_46808392 0/1:99:255,0,248 . . 0/1:99:255,0,255 19 46815373 rs36063219 C T NON_SYNONYMOUS_CODING HIF3A MODERATE|MISSENSE|tCa/tTa|S165L|237|HIF3A|protein_coding|CODING|ENST00000457865|exon_19_46815322_46815381 . . . 0/1:99:173,0,161 19 46915091 rs74516985 T C NON_SYNONYMOUS_CODING CCDC8 MODERATE|MISSENSE|Acc/Gcc|T173A|324|CCDC8|protein_coding|CODING|ENST00000540252|exon_19_46914270_46915127 0/1:82:79,0,181 . . . 19 46915091 rs74516985 T C NON_SYNONYMOUS_CODING CCDC8 MODERATE|MISSENSE|gAc/gGc|D326G|538|CCDC8|protein_coding|CODING|ENST00000307522|exon_19_46913629_46916841 0/1:82:79,0,181 . . . 19 46973707 rs111356009 C T NON_SYNONYMOUS_CODING PNMAL1 MODERATE|MISSENSE|Gtg/Atg|V196M|378|PNMAL1|protein_coding|CODING|ENST00000438932|exon_19_46973195_46974371 . 0/1:99:243,0,207 . . 19 46973707 rs111356009 C T NON_SYNONYMOUS_CODING PNMAL1 MODERATE|MISSENSE|Gtg/Atg|V196M|439|PNMAL1|protein_coding|CODING|ENST00000313683|exon_19_46972990_46974371 . 0/1:99:243,0,207 . . 19 46973707 rs111356009 C T NON_SYNONYMOUS_CODING PNMAL1 MODERATE|MISSENSE|gGt/gAt|G175D|204|PNMAL1|protein_coding|CODING|ENST00000417103|exon_19_46973616_46973718 . 0/1:99:243,0,207 . . 19 47259048 rs143793528 C G NON_SYNONYMOUS_CODING FKRP MODERATE|MISSENSE|gCc/gGc|A114G|495|FKRP|protein_coding|CODING|ENST00000318584|exon_19_47258669_47261832 . . 0/1:99:155,0,111 . 19 47259048 rs143793528 C G NON_SYNONYMOUS_CODING FKRP MODERATE|MISSENSE|gCc/gGc|A114G|495|FKRP|protein_coding|CODING|ENST00000391909|exon_19_47258669_47261832 . . 0/1:99:155,0,111 . 19 47615835 rs62135070 C T NON_SYNONYMOUS_CODING ZC3H4 MODERATE|MISSENSE|Gcc/Acc|A3T|1303|ZC3H4|protein_coding|CODING|ENST00000253048|exon_19_47615681_47615846 . . 1/1:69:253,36,0 . 19 47774665 . TGAGGAGGA TGAGGA CODON_CHANGE_PLUS_CODON_DELETION CCDC9 MODERATE||gaggaa/gaa|EE426E|513|CCDC9|protein_coding|CODING|ENST00000504556|exon_19_47774531_47775208 0/1:99:213,0,255 . . . 19 47774665 . TGAGGAGGA TGAGGA CODON_CHANGE_PLUS_CODON_DELETION CCDC9 MODERATE||gaggaa/gaa|EE444E|531|CCDC9|protein_coding|CODING|ENST00000221922|exon_19_47774531_47775208 0/1:99:213,0,255 . . . 19 47858489 rs34802163 C G NON_SYNONYMOUS_CODING DHX34 MODERATE|MISSENSE|cCc/cGc|P300R|1143|DHX34|protein_coding|CODING|ENST00000328771|exon_19_47858296_47858607 . 0/1:99:246,0,219 . . 19 47858489 rs34802163 C G NON_SYNONYMOUS_CODING DHX34 MODERATE|MISSENSE|cCc/cGc|P300R|576|DHX34|protein_coding|CODING|ENST00000257252|exon_19_47858296_47858607 . 0/1:99:246,0,219 . . 19 48048900 rs146808728 C A NON_SYNONYMOUS_CODING ZNF541 MODERATE|MISSENSE|Ggg/Tgg|G296W|1088|ZNF541|protein_coding|CODING|ENST00000448976|exon_19_48047383_48049237 . . . 0/1:99:172,0,116 19 48048900 rs146808728 C A NON_SYNONYMOUS_CODING ZNF541 MODERATE|MISSENSE|Ggg/Tgg|G296W|1346|ZNF541|protein_coding|CODING|ENST00000391901|exon_19_48047383_48049237 . . . 0/1:99:172,0,116 19 48048900 rs146808728 C A NON_SYNONYMOUS_CODING ZNF541 MODERATE|MISSENSE|Ggg/Tgg|G296W|1365|ZNF541|protein_coding|CODING|ENST00000314121|exon_19_48047383_48049237 . . . 0/1:99:172,0,116 19 48244401 rs35910701 G A NON_SYNONYMOUS_CODING EHD2 MODERATE|MISSENSE|Gga/Aga|G118R|171|EHD2|protein_coding|CODING|ENST00000454483|exon_19_48244395_48244565 . . 0/1:99:209,0,206 . 19 48258699 rs11538665 C T NON_SYNONYMOUS_CODING GLTSCR2 MODERATE|MISSENSE|gCg/gTg|A383V|478|GLTSCR2|protein_coding|CODING|ENST00000246802|exon_19_48258605_48258780 . . . 0/1:99:178,0,123 19 48305638 . TGGGCCTGGGATCGGGCCTGGGATCGGGACTGAGATTGGGCCTGGGATCGGGCCTGAGATTGGGCCTGGGATCGGGCCTGGGTTTGGGCCTGGGATCGGGCCTGGG TGGGCCTGGGATCGGGACTGAGATTGGGCCTGGGATCGGGCCTGAGATTGGGCCTGGGATCGGGCCTGGGTTTGGGCCTGGGATCGGGCCTGGG CODON_DELETION TPRX1 MODERATE||gtcccgatcccaggc/gtc|VPIPG191V|401|TPRX1|protein_coding|CODING|ENST00000543508|exon_19_48304737_48305774 . . 0/1:99:97,0,255 . 19 48305638 . TGGGCCTGGGATCGGGCCTGGGATCGGGACTGAGATTGGGCCTGGGATCGGGCCTGAGATTGGGCCTGGGATCGGGCCTGGGTTTGGGCCTGGGATCGGGCCTGGG TGGGCCTGGGATCGGGACTGAGATTGGGCCTGGGATCGGGCCTGAGATTGGGCCTGGGATCGGGCCTGGGTTTGGGCCTGGGATCGGGCCTGGG CODON_DELETION TPRX1 MODERATE||gtcccgatcccaggc/gtc|VPIPG201V|411|TPRX1|protein_coding|CODING|ENST00000322175|exon_19_48304500_48306237 . . 0/1:99:97,0,255 . 19 48305638 . TGGGCCTGGGATCGGGCCTGGGATCGGGACTGAGATTGGGCCTGGGATCGGGCCTGAGATTGGGCCTGGGATCGGGCCTGGGTTTGGGCCTGGGATCGGGCCTGGG TGGGCCTGGGATCGGGACTGAGATTGGGCCTGGGATCGGGCCTGAGATTGGGCCTGGGATCGGGCCTGGGTTTGGGCCTGGGATCGGGCCTGGG CODON_DELETION TPRX1 MODERATE||gtcccgatcccaggc/gtc|VPIPG298V|508|TPRX1|protein_coding|CODING|ENST00000535759|exon_19_48304500_48306237 . . 0/1:99:97,0,255 . 19 48519241 rs3745751 C G NON_SYNONYMOUS_CODING ELSPBP1 MODERATE|MISSENSE|tgC/tgG|C100W|223|ELSPBP1|protein_coding|CODING|ENST00000339841|exon_19_48519150_48519296 . . . 0/1:99:255,0,240 19 48525466 rs35700000 C T NON_SYNONYMOUS_CODING ELSPBP1 MODERATE|MISSENSE|cCg/cTg|P185L|223|ELSPBP1|protein_coding|CODING|ENST00000339841|exon_19_48525427_48525591 . . 0/1:99:255,0,255 . 19 48601512 rs11564538 G A NON_SYNONYMOUS_CODING PLA2G4C MODERATE|MISSENSE|cCg/cTg|P151L|527|PLA2G4C|protein_coding|CODING|ENST00000354276|exon_19_48601396_48601516 . . 0/1:99:191,0,255 0/1:99:209,0,255 19 48601512 rs11564538 G A NON_SYNONYMOUS_CODING PLA2G4C MODERATE|MISSENSE|cCg/cTg|P151L|541|PLA2G4C|protein_coding|CODING|ENST00000413144|exon_19_48601396_48601516 . . 0/1:99:191,0,255 0/1:99:209,0,255 19 48954421 rs2302951 G A NON_SYNONYMOUS_CODING GRWD1 MODERATE|MISSENSE|cGg/cAg|R319Q|446|GRWD1|protein_coding|CODING|ENST00000253237|exon_19_48954291_48954488 0/1:99:184,0,152 . . . 19 49254504 rs2071699 G A NON_SYNONYMOUS_CODING FUT1 MODERATE|MISSENSE|gCc/gTc|A12V|355|FUT1|protein_coding|CODING|ENST00000539428|exon_19_49254173_49254538 0/1:99:250,0,177 . . . 19 49254504 rs2071699 G A NON_SYNONYMOUS_CODING FUT1 MODERATE|MISSENSE|gCc/gTc|A12V|365|FUT1|protein_coding|CODING|ENST00000310160|exon_19_49251268_49254540 0/1:99:250,0,177 . . . 19 49368843 rs506425 T C NON_SYNONYMOUS_CODING PLEKHA4 MODERATE|MISSENSE|Atc/Gtc|I37V|583|PLEKHA4|protein_coding|CODING|ENST00000355496|exon_19_49368760_49368867 0/1:99:255,0,179 1/1:99:255,78,0 . . 19 49368843 rs506425 T C NON_SYNONYMOUS_CODING PLEKHA4 MODERATE|MISSENSE|Atc/Gtc|I37V|779|PLEKHA4|protein_coding|CODING|ENST00000263265|exon_19_49368760_49368867 0/1:99:255,0,179 1/1:99:255,78,0 . . 19 49376582 rs564196 G A NON_SYNONYMOUS_CODING PPP1R15A MODERATE|MISSENSE|cGc/cAc|R31H|674|PPP1R15A|protein_coding|CODING|ENST00000200453|exon_19_49376482_49378155 0/1:99:179,0,99 . . . 19 49377086 rs611251 T C NON_SYNONYMOUS_CODING PPP1R15A MODERATE|MISSENSE|gTa/gCa|V157A|632|PPP1R15A|protein_coding|CODING|ENST00000544084|exon_19_49376620_49378155 0/1:99:236,0,204 . . . 19 49377086 rs611251 T C NON_SYNONYMOUS_CODING PPP1R15A MODERATE|MISSENSE|gTa/gCa|V199A|674|PPP1R15A|protein_coding|CODING|ENST00000200453|exon_19_49376482_49378155 0/1:99:236,0,204 . . . 19 49377086 rs611251 T C NON_SYNONYMOUS_CODING PPP1R15A MODERATE|MISSENSE|gTa/gCa|V39A|514|PPP1R15A|protein_coding|CODING|ENST00000540695|exon_19_49376974_49378155 0/1:99:236,0,204 . . . 19 49377242 rs557806 G C NON_SYNONYMOUS_CODING PPP1R15A MODERATE|MISSENSE|cGa/cCa|R209P|632|PPP1R15A|protein_coding|CODING|ENST00000544084|exon_19_49376620_49378155 0/1:99:222,0,202 . . . 19 49377242 rs557806 G C NON_SYNONYMOUS_CODING PPP1R15A MODERATE|MISSENSE|cGa/cCa|R251P|674|PPP1R15A|protein_coding|CODING|ENST00000200453|exon_19_49376482_49378155 0/1:99:222,0,202 . . . 19 49377242 rs557806 G C NON_SYNONYMOUS_CODING PPP1R15A MODERATE|MISSENSE|cGa/cCa|R91P|514|PPP1R15A|protein_coding|CODING|ENST00000540695|exon_19_49376974_49378155 0/1:99:222,0,202 . . . 19 49377319 rs610308 A G NON_SYNONYMOUS_CODING PPP1R15A MODERATE|MISSENSE|Aaa/Gaa|K117E|514|PPP1R15A|protein_coding|CODING|ENST00000540695|exon_19_49376974_49378155 0/1:99:214,0,224 1/1:99:255,72,0 . . 19 49377319 rs610308 A G NON_SYNONYMOUS_CODING PPP1R15A MODERATE|MISSENSE|Aaa/Gaa|K235E|632|PPP1R15A|protein_coding|CODING|ENST00000544084|exon_19_49376620_49378155 0/1:99:214,0,224 1/1:99:255,72,0 . . 19 49377319 rs610308 A G NON_SYNONYMOUS_CODING PPP1R15A MODERATE|MISSENSE|Aaa/Gaa|K277E|674|PPP1R15A|protein_coding|CODING|ENST00000200453|exon_19_49376482_49378155 0/1:99:214,0,224 1/1:99:255,72,0 . . 19 49377424 rs11541192 G A NON_SYNONYMOUS_CODING PPP1R15A MODERATE|MISSENSE|Ggt/Agt|G152S|514|PPP1R15A|protein_coding|CODING|ENST00000540695|exon_19_49376974_49378155 . 1/1:99:255,93,0 . . 19 49377424 rs11541192 G A NON_SYNONYMOUS_CODING PPP1R15A MODERATE|MISSENSE|Ggt/Agt|G270S|632|PPP1R15A|protein_coding|CODING|ENST00000544084|exon_19_49376620_49378155 . 1/1:99:255,93,0 . . 19 49377424 rs11541192 G A NON_SYNONYMOUS_CODING PPP1R15A MODERATE|MISSENSE|Ggt/Agt|G312S|674|PPP1R15A|protein_coding|CODING|ENST00000200453|exon_19_49376482_49378155 . 1/1:99:255,93,0 . . 19 49377436 rs556052 G C NON_SYNONYMOUS_CODING PPP1R15A MODERATE|MISSENSE|Gct/Cct|A156P|514|PPP1R15A|protein_coding|CODING|ENST00000540695|exon_19_49376974_49378155 0/1:99:251,0,224 1/1:99:255,105,0 . . 19 49377436 rs556052 G C NON_SYNONYMOUS_CODING PPP1R15A MODERATE|MISSENSE|Gct/Cct|A274P|632|PPP1R15A|protein_coding|CODING|ENST00000544084|exon_19_49376620_49378155 0/1:99:251,0,224 1/1:99:255,105,0 . . 19 49377436 rs556052 G C NON_SYNONYMOUS_CODING PPP1R15A MODERATE|MISSENSE|Gct/Cct|A316P|674|PPP1R15A|protein_coding|CODING|ENST00000200453|exon_19_49376482_49378155 0/1:99:251,0,224 1/1:99:255,105,0 . . 19 49377918 rs35087747 G T NON_SYNONYMOUS_CODING PPP1R15A MODERATE|MISSENSE|agG/agT|R316S|514|PPP1R15A|protein_coding|CODING|ENST00000540695|exon_19_49376974_49378155 . 1/1:99:255,84,0 . . 19 49377918 rs35087747 G T NON_SYNONYMOUS_CODING PPP1R15A MODERATE|MISSENSE|agG/agT|R434S|632|PPP1R15A|protein_coding|CODING|ENST00000544084|exon_19_49376620_49378155 . 1/1:99:255,84,0 . . 19 49377918 rs35087747 G T NON_SYNONYMOUS_CODING PPP1R15A MODERATE|MISSENSE|agG/agT|R476S|674|PPP1R15A|protein_coding|CODING|ENST00000200453|exon_19_49376482_49378155 . 1/1:99:255,84,0 . . 19 49378994 rs500079 A G NON_SYNONYMOUS_CODING PPP1R15A MODERATE|MISSENSE|Acc/Gcc|T437A|514|PPP1R15A|protein_coding|CODING|ENST00000540695|exon_19_49378871_49379318 0/1:99:194,0,191 1/1:99:255,75,0 . . 19 49378994 rs500079 A G NON_SYNONYMOUS_CODING PPP1R15A MODERATE|MISSENSE|Acc/Gcc|T555A|632|PPP1R15A|protein_coding|CODING|ENST00000544084|exon_19_49378871_49379314 0/1:99:194,0,191 1/1:99:255,75,0 . . 19 49378994 rs500079 A G NON_SYNONYMOUS_CODING PPP1R15A MODERATE|MISSENSE|Acc/Gcc|T597A|674|PPP1R15A|protein_coding|CODING|ENST00000200453|exon_19_49378871_49379318 0/1:99:194,0,191 1/1:99:255,75,0 . . 19 49391404 rs8112811 C T NON_SYNONYMOUS_CODING TULP2 MODERATE|MISSENSE|Gac/Aac|D205N|229|TULP2|protein_coding|CODING|ENST00000518572|exon_19_49391325_49391518 0/1:99:255,0,207 . . . 19 49391404 rs8112811 C T NON_SYNONYMOUS_CODING TULP2 MODERATE|MISSENSE|Gac/Aac|D251N|520|TULP2|protein_coding|CODING|ENST00000221399|exon_19_49391207_49391518 0/1:99:255,0,207 . . . 19 49409026 rs111959800 G A NON_SYNONYMOUS_CODING NUCB1 MODERATE|MISSENSE|cGa/cAa|R87Q|109|NUCB1|protein_coding|CODING|ENST00000451312|exon_19_49409010_49409098 . . 0/1:99:216,0,255 . 19 49409026 rs111959800 G A NON_SYNONYMOUS_CODING NUCB1 MODERATE|MISSENSE|cGa/cAa|R87Q|123|NUCB1|protein_coding|CODING|ENST00000411700|exon_19_49409010_49409139 . . 0/1:99:216,0,255 . 19 49409026 rs111959800 G A NON_SYNONYMOUS_CODING NUCB1 MODERATE|MISSENSE|cGa/cAa|R87Q|266|NUCB1|protein_coding|CODING|ENST00000452087|exon_19_49409010_49409142 . . 0/1:99:216,0,255 . 19 49409026 rs111959800 G A NON_SYNONYMOUS_CODING NUCB1 MODERATE|MISSENSE|cGa/cAa|R87Q|461|NUCB1|protein_coding|CODING|ENST00000263273|exon_19_49409010_49409142 . . 0/1:99:216,0,255 . 19 49409026 rs111959800 G A NON_SYNONYMOUS_CODING NUCB1 MODERATE|MISSENSE|cGa/cAa|R87Q|461|NUCB1|protein_coding|CODING|ENST00000405315|exon_19_49409010_49409142 . . 0/1:99:216,0,255 . 19 49409026 rs111959800 G A NON_SYNONYMOUS_CODING NUCB1 MODERATE|MISSENSE|cGa/cAa|R87Q|461|NUCB1|protein_coding|CODING|ENST00000407032|exon_19_49409010_49409142 . . 0/1:99:216,0,255 . 19 50091798 rs2288920 G T NON_SYNONYMOUS_CODING PRRG2 MODERATE|MISSENSE|Ggt/Tgt|G116C|202|PRRG2|protein_coding|CODING|ENST00000246794|exon_19_50091754_50091889 . 0/1:99:193,0,219 0/1:99:255,0,221 . 19 50091798 rs2288920 G T NON_SYNONYMOUS_CODING PRRG2 MODERATE|MISSENSE|Ggt/Tgt|G93C|179|PRRG2|protein_coding|CODING|ENST00000543867|exon_19_50091754_50091889 . 0/1:99:193,0,219 0/1:99:255,0,221 . 19 50154190 rs151252460 G A NON_SYNONYMOUS_CODING SCAF1 MODERATE|MISSENSE|Ggg/Agg|G182R|1312|SCAF1|protein_coding|CODING|ENST00000360565|exon_19_50154125_50156962 . 0/1:91:124,0,88 . . 19 50154190 rs151252460 G A NON_SYNONYMOUS_CODING SCAF1 MODERATE|MISSENSE|Ggg/Agg|G182R|219|SCAF1|protein_coding|CODING|ENST00000447618|exon_19_50154125_50154192 . 0/1:91:124,0,88 . . 19 50154471 . GGAAGAAGAAGA GGAAGAAGA CODON_CHANGE_PLUS_CODON_DELETION SCAF1 MODERATE||gaagag/gag|EE278E|1312|SCAF1|protein_coding|CODING|ENST00000360565|exon_19_50154125_50156962 . . 0/1:99:132,0,152 . 19 50193437 rs45613034 C A NON_SYNONYMOUS_CODING C19orf76 MODERATE|MISSENSE|gCg/gAg|A50E|153|C19orf76|protein_coding|CODING|ENST00000420022|exon_19_50193363_50193750 . . 0/1:99:179,0,255 . 19 50379908 rs186988431 G A NON_SYNONYMOUS_CODING AKT1S1 MODERATE|MISSENSE|tCt/tTt|S2F|276|AKT1S1|protein_coding|CODING|ENST00000391835|exon_19_50379860_50381285 . . 0/1:99:255,0,144 . 19 50435921 rs201354210 C T NON_SYNONYMOUS_CODING ATF5 MODERATE|MISSENSE|Ctc/Ttc|L141F|282|ATF5|protein_coding|CODING|ENST00000423777|exon_19_50435679_50437192 . . 1/1:16:99,9,0 . 19 50464331 rs201622360 G A NON_SYNONYMOUS_CODING SIGLEC11 MODERATE|MISSENSE|cCg/cTg|P3L|602|SIGLEC11|protein_coding|CODING|ENST00000458019|exon_19_50464263_50464429 . . . 0/1:99:133,0,131 19 50464331 rs201622360 G A NON_SYNONYMOUS_CODING SIGLEC11 MODERATE|MISSENSE|cCg/cTg|P3L|698|SIGLEC11|protein_coding|CODING|ENST00000447370|exon_19_50464263_50464429 . . . 0/1:99:133,0,131 19 50473221 . T C NON_SYNONYMOUS_CODING SIGLEC16 MODERATE|MISSENSE|Tgg/Cgg|W65R|481|SIGLEC16|protein_coding|CODING|ENST00000456956|exon_19_50473069_50473437 . . . 0/1:70:67,0,92 19 50473221 . T C NON_SYNONYMOUS_CODING SIGLEC16 MODERATE|MISSENSE|Tgg/Cgg|W77R|453|SIGLEC16|protein_coding|CODING|ENST00000417280|exon_19_50473069_50473437 . . . 0/1:70:67,0,92 19 50475208 rs12462966 C T NON_SYNONYMOUS_CODING SIGLEC16 MODERATE|MISSENSE|Cgg/Tgg|R377W|481|SIGLEC16|protein_coding|CODING|ENST00000456956|exon_19_50475101_50475358 . . . 1/1:9:53,5,0 19 50475208 rs12462966 C T NON_SYNONYMOUS_CODING SIGLEC16 MODERATE|MISSENSE|Cgg/Tgg|R405W|453|SIGLEC16|protein_coding|CODING|ENST00000417280|exon_19_50475101_50475358 . . . 1/1:9:53,5,0 19 50549462 rs117757975 G A NON_SYNONYMOUS_CODING ZNF473 MODERATE|MISSENSE|Gtg/Atg|V576M|859|ZNF473|protein_coding|CODING|ENST00000445728|exon_19_50547927_50550424 . . . 0/1:99:161,0,255 19 50549462 rs117757975 G A NON_SYNONYMOUS_CODING ZNF473 MODERATE|MISSENSE|Gtg/Atg|V588M|871|ZNF473|protein_coding|CODING|ENST00000270617|exon_19_50547927_50552029 . . . 0/1:99:161,0,255 19 50549462 rs117757975 G A NON_SYNONYMOUS_CODING ZNF473 MODERATE|MISSENSE|Gtg/Atg|V588M|871|ZNF473|protein_coding|CODING|ENST00000391821|exon_19_50547927_50552029 . . . 0/1:99:161,0,255 19 50661596 rs185066504 T G NON_SYNONYMOUS_CODING IZUMO2 MODERATE|MISSENSE|aAa/aCa|K142T|221|IZUMO2|protein_coding|CODING|ENST00000293405|exon_19_50661525_50661605 . 0/1:99:180,0,255 . . 19 50939276 rs77627679 C A NON_SYNONYMOUS_CODING MYBPC2 MODERATE|MISSENSE|gaC/gaA|D68E|1141|MYBPC2|protein_coding|CODING|ENST00000357701|exon_19_50939269_50939417 0/1:99:251,0,255 . . . 19 50985170 rs144996610 C T NON_SYNONYMOUS_CODING C19orf63 MODERATE|MISSENSE|gCg/gTg|A244V|254|C19orf63|protein_coding|CODING|ENST00000376918|exon_19_50985118_50985204 . . 0/1:99:140,0,175 . 19 51021057 rs61751957 A G NON_SYNONYMOUS_CODING LRRC4B MODERATE|MISSENSE|gTg/gCg|V638A|713|LRRC4B|protein_coding|CODING|ENST00000389201|exon_19_51020149_51022672 . 0/1:99:111,0,140 . 0/1:99:128,0,132 19 51294098 rs145475625 C T NON_SYNONYMOUS_CODING ACPT MODERATE|MISSENSE|cCg/cTg|P95L|426|ACPT|protein_coding|CODING|ENST00000270593|exon_19_51294031_51294117 . . 0/1:99:195,0,128 . 19 51321714 rs3212844 A G NON_SYNONYMOUS_CODING AC010325.1 MODERATE|MISSENSE|atA/atG|I47M|100|AC010325.1|protein_coding|CODING|ENST00000326989|exon_19_51321391_51322131 . . 0/1:99:169,0,115 . 19 51321827 rs3212842 G A NON_SYNONYMOUS_CODING AC010325.1 MODERATE|MISSENSE|aGg/aAg|R85K|100|AC010325.1|protein_coding|CODING|ENST00000326989|exon_19_51321391_51322131 . . 0/1:99:191,0,120 . 19 51323676 rs5515 C T NON_SYNONYMOUS_CODING KLK1 MODERATE|MISSENSE|cGc/cAc|R77H|262|KLK1|protein_coding|CODING|ENST00000301420|exon_19_51323410_51323699 . . 0/1:99:193,0,204 . 19 51381777 rs198977 C T NON_SYNONYMOUS_CODING KLK2 MODERATE|MISSENSE|Cgg/Tgg|R148W|159|KLK2|protein_coding|CODING|ENST00000391810|exon_19_51381660_51382046 . 0/1:99:255,0,236 . 0/1:99:200,0,187 19 51381777 rs198977 C T NON_SYNONYMOUS_CODING KLK2 MODERATE|MISSENSE|Cgg/Tgg|R250W|261|KLK2|protein_coding|CODING|ENST00000325321|exon_19_51381660_51383822 . 0/1:99:255,0,236 . 0/1:99:200,0,187 19 51738917 rs35112940 G A NON_SYNONYMOUS_CODING CD33 MODERATE|MISSENSE|Ggg/Agg|G177R|212|CD33|protein_coding|CODING|ENST00000436584|exon_19_51738850_51739827 . 0/1:99:167,0,223 . 0/1:99:249,0,202 19 51738917 rs35112940 G A NON_SYNONYMOUS_CODING CD33 MODERATE|MISSENSE|Ggg/Agg|G177R|237|CD33|protein_coding|CODING|ENST00000421133|exon_19_51738850_51738931 . 0/1:99:167,0,223 . 0/1:99:249,0,202 19 51738917 rs35112940 G A NON_SYNONYMOUS_CODING CD33 MODERATE|MISSENSE|Ggg/Agg|G304R|310|CD33|protein_coding|CODING|ENST00000391796|exon_19_51738850_51738931 . 0/1:99:167,0,223 . 0/1:99:249,0,202 19 51738917 rs35112940 G A NON_SYNONYMOUS_CODING CD33 MODERATE|MISSENSE|Ggg/Agg|G304R|364|CD33|protein_coding|CODING|ENST00000262262|exon_19_51738850_51738931 . 0/1:99:167,0,223 . 0/1:99:249,0,202 19 51845070 rs141732375 A T NON_SYNONYMOUS_CODING VSIG10L MODERATE|MISSENSE|Tcc/Acc|S78T|867|VSIG10L|protein_coding|CODING|ENST00000335624|exon_19_51844407_51845261 0/1:99:199,0,166 . . . 19 51857738 rs79338777 G A NON_SYNONYMOUS_CODING ETFB MODERATE|MISSENSE|cCc/cTc|P52L|346|ETFB|protein_coding|CODING|ENST00000354232|exon_19_51857404_51858096 . . 0/1:99:253,0,205 . 19 51986547 rs10426247 A G NON_SYNONYMOUS_CODING CEACAM18 MODERATE|MISSENSE|cAt/cGt|H317R|362|CEACAM18|protein_coding|CODING|ENST00000451086|exon_19_51986271_51986550 0/1:99:210,0,255 . 0/1:99:223,0,204 . 19 51986547 rs10426247 A G NON_SYNONYMOUS_CODING CEACAM18 MODERATE|MISSENSE|cAt/cGt|H378R|398|CEACAM18|protein_coding|CODING|ENST00000451626|exon_19_51986271_51986611 0/1:99:210,0,255 . 0/1:99:223,0,204 . 19 51988280 rs10414941 G A NON_SYNONYMOUS_CODING CEACAM18 MODERATE|MISSENSE|gGa/gAa|G337E|362|CEACAM18|protein_coding|CODING|ENST00000451086|exon_19_51988224_51988359 0/1:99:255,0,255 . 0/1:99:255,0,108 . 19 52033158 rs35931837 C T NON_SYNONYMOUS_CODING SIGLEC6 MODERATE|MISSENSE|Ggc/Agc|G226S|401|SIGLEC6|protein_coding|CODING|ENST00000436458|exon_19_52032978_52033235 . . . 0/1:99:160,0,212 19 52033158 rs35931837 C T NON_SYNONYMOUS_CODING SIGLEC6 MODERATE|MISSENSE|Ggc/Agc|G251S|426|SIGLEC6|protein_coding|CODING|ENST00000346477|exon_19_52032978_52033235 . . . 0/1:99:160,0,212 19 52033158 rs35931837 C T NON_SYNONYMOUS_CODING SIGLEC6 MODERATE|MISSENSE|Ggc/Agc|G262S|437|SIGLEC6|protein_coding|CODING|ENST00000391797|exon_19_52032978_52033235 . . . 0/1:99:160,0,212 19 52033158 rs35931837 C T NON_SYNONYMOUS_CODING SIGLEC6 MODERATE|MISSENSE|Ggc/Agc|G278S|353|SIGLEC6|protein_coding|CODING|ENST00000343300|exon_19_52032978_52033235 . . . 0/1:99:160,0,212 19 52033158 rs35931837 C T NON_SYNONYMOUS_CODING SIGLEC6 MODERATE|MISSENSE|Ggc/Agc|G278S|453|SIGLEC6|protein_coding|CODING|ENST00000425629|exon_19_52032978_52033235 . . . 0/1:99:160,0,212 19 52033158 rs35931837 C T NON_SYNONYMOUS_CODING SIGLEC6 MODERATE|MISSENSE|Ggc/Agc|G289S|389|SIGLEC6|protein_coding|CODING|ENST00000359982|exon_19_52032978_52033235 . . . 0/1:99:160,0,212 19 52089982 rs61736479 C G NON_SYNONYMOUS_CODING ZNF175 MODERATE|MISSENSE|tCc/tGc|S133C|711|ZNF175|protein_coding|CODING|ENST00000262259|exon_19_52089880_52092968 . 0/1:99:255,0,232 . . 19 52447624 rs33998555 C T NON_SYNONYMOUS_CODING ZNF613 MODERATE|MISSENSE|tCc/tTc|S127F|581|ZNF613|protein_coding|CODING|ENST00000391794|exon_19_52447372_52449009 . . 0/1:99:255,0,255 . 19 52447624 rs33998555 C T NON_SYNONYMOUS_CODING ZNF613 MODERATE|MISSENSE|tCc/tTc|S163F|617|ZNF613|protein_coding|CODING|ENST00000293471|exon_19_52447372_52449009 . . 0/1:99:255,0,255 . 19 52468203 rs2278415 T A NON_SYNONYMOUS_CODING ZNF350 MODERATE|MISSENSE|agA/agT|R501S|532|ZNF350|protein_coding|CODING|ENST00000243644|exon_19_52467594_52469467 0/1:99:233,0,255 . . . 19 52471872 rs2278420 A G NON_SYNONYMOUS_CODING ZNF350 MODERATE|MISSENSE|cTg/cCg|L66P|532|ZNF350|protein_coding|CODING|ENST00000243644|exon_19_52471831_52471926 0/1:99:255,0,238 . 0/1:99:222,0,235 . 19 52519608 rs8104890 C T NON_SYNONYMOUS_CODING ZNF614 MODERATE|MISSENSE|Gtt/Att|V415I|585|ZNF614|protein_coding|CODING|ENST00000270649|exon_19_52516577_52520612 0/1:99:252,0,255 . 0/1:99:250,0,255 . 19 52520607 rs61574510 C T NON_SYNONYMOUS_CODING ZNF614 MODERATE|MISSENSE|Ggg/Agg|G82R|198|ZNF614|protein_coding|CODING|ENST00000356322|exon_19_52520370_52520612 . . 0/1:99:238,0,231 . 19 52520607 rs61574510 C T NON_SYNONYMOUS_CODING ZNF614 MODERATE|MISSENSE|Ggg/Agg|G82R|585|ZNF614|protein_coding|CODING|ENST00000270649|exon_19_52516577_52520612 . . 0/1:99:238,0,231 . 19 52521296 rs9636139 G A NON_SYNONYMOUS_CODING ZNF614 MODERATE|MISSENSE|aCa/aTa|T68I|198|ZNF614|protein_coding|CODING|ENST00000356322|exon_19_52521261_52521356 0/1:99:255,0,194 . 0/1:99:255,0,251 . 19 52521296 rs9636139 G A NON_SYNONYMOUS_CODING ZNF614 MODERATE|MISSENSE|aCa/aTa|T68I|585|ZNF614|protein_coding|CODING|ENST00000270649|exon_19_52521261_52521356 0/1:99:255,0,194 . 0/1:99:255,0,251 . 19 52568422 rs61743893 T G NON_SYNONYMOUS_CODING ZNF841 MODERATE|MISSENSE|Aca/Cca|T481P|500|ZNF841|protein_coding|CODING|ENST00000359973|exon_19_52568360_52568818 . . 0/1:99:255,0,255 . 19 52568422 rs61743893 T G NON_SYNONYMOUS_CODING ZNF841 MODERATE|MISSENSE|Aca/Cca|T789P|808|ZNF841|protein_coding|CODING|ENST00000426391|exon_19_52567719_52570863 . . 0/1:99:255,0,255 . 19 52568422 rs61743893 T G NON_SYNONYMOUS_CODING ZNF841 MODERATE|MISSENSE|Aca/Cca|T905P|924|ZNF841|protein_coding|CODING|ENST00000389534|exon_19_52567719_52570863 . . 0/1:99:255,0,255 . 19 52619065 rs3764537 T C NON_SYNONYMOUS_CODING ZNF616 MODERATE|MISSENSE|cAt/cGt|H451R|781|ZNF616|protein_coding|CODING|ENST00000330123|exon_19_52617654_52620277 0/1:99:255,0,247 . 0/1:99:211,0,255 . 19 52620269 rs35582075 G A NON_SYNONYMOUS_CODING ZNF616 MODERATE|MISSENSE|Cct/Tct|P50S|781|ZNF616|protein_coding|CODING|ENST00000330123|exon_19_52617654_52620277 . 0/1:99:255,0,255 . . 19 52658510 rs8113504 T C NON_SYNONYMOUS_CODING ZNF836 MODERATE|MISSENSE|aAt/aGt|N809S|936|ZNF836|protein_coding|CODING|ENST00000322146|exon_19_52658125_52660793 0/1:99:255,0,255 . 0/1:99:223,0,255 . 19 52876385 rs14048 G A NON_SYNONYMOUS_CODING ZNF880 MODERATE|MISSENSE|Gtg/Atg|V12M|125|ZNF880|protein_coding|CODING|ENST00000424032|exon_19_52876364_52876490 0/1:99:252,0,243 . . . 19 52876385 rs14048 G A NON_SYNONYMOUS_CODING ZNF880 MODERATE|MISSENSE|Gtg/Atg|V12M|577|ZNF880|protein_coding|CODING|ENST00000422689|exon_19_52876364_52876490 0/1:99:252,0,243 . . . 19 52876385 rs14048 G A NON_SYNONYMOUS_CODING ZNF880 MODERATE|MISSENSE|Gtg/Atg|V12M|98|ZNF880|protein_coding|CODING|ENST00000344085|exon_19_52876364_52876490 0/1:99:252,0,243 . . . 19 52887282 rs324125 A G NON_SYNONYMOUS_CODING ZNF880 MODERATE|MISSENSE|tAt/tGt|Y150C|577|ZNF880|protein_coding|CODING|ENST00000422689|exon_19_52887102_52889048 0/1:99:255,0,255 . 0/1:99:255,0,255 . 19 53058430 . G A NON_SYNONYMOUS_CODING ZNF808 MODERATE|MISSENSE|cGt/cAt|R754H|903|ZNF808|protein_coding|CODING|ENST00000359798|exon_19_53056360_53059589 0/1:99:255,0,255 . . . 19 53116643 rs11545619 T C NON_SYNONYMOUS_CODING ZNF83 MODERATE|MISSENSE|cAc/cGc|H364R|488|ZNF83|protein_coding|CODING|ENST00000391789|exon_19_53116267_53116929 . . 0/1:99:255,0,255 . 19 53116643 rs11545619 T C NON_SYNONYMOUS_CODING ZNF83 MODERATE|MISSENSE|cAc/cGc|H364R|488|ZNF83|protein_coding|CODING|ENST00000434535|exon_19_53115631_53116934 . . 0/1:99:255,0,255 . 19 53116643 rs11545619 T C NON_SYNONYMOUS_CODING ZNF83 MODERATE|MISSENSE|cAc/cGc|H392R|516|ZNF83|protein_coding|CODING|ENST00000301096|exon_19_53115620_53118050 . . 0/1:99:255,0,255 . 19 53116643 rs11545619 T C NON_SYNONYMOUS_CODING ZNF83 MODERATE|MISSENSE|cAc/cGc|H392R|516|ZNF83|protein_coding|CODING|ENST00000536937|exon_19_53115620_53118050 . . 0/1:99:255,0,255 . 19 53116643 rs11545619 T C NON_SYNONYMOUS_CODING ZNF83 MODERATE|MISSENSE|cAc/cGc|H392R|516|ZNF83|protein_coding|CODING|ENST00000541777|exon_19_53115631_53118050 . . 0/1:99:255,0,255 . 19 53116643 rs11545619 T C NON_SYNONYMOUS_CODING ZNF83 MODERATE|MISSENSE|cAc/cGc|H392R|516|ZNF83|protein_coding|CODING|ENST00000544146|exon_19_53115620_53118050 . . 0/1:99:255,0,255 . 19 53116643 rs11545619 T C NON_SYNONYMOUS_CODING ZNF83 MODERATE|MISSENSE|cAc/cGc|H392R|516|ZNF83|protein_coding|CODING|ENST00000545872|exon_19_53115631_53118050 . . 0/1:99:255,0,255 . 19 53270623 rs79890896 G C NON_SYNONYMOUS_CODING ZNF600 MODERATE|MISSENSE|cCt/cGt|P129R|722|ZNF600|protein_coding|CODING|ENST00000338230|exon_19_53268747_53271025 . . . 0/1:99:255,0,255 19 53270926 rs146821330 T C NON_SYNONYMOUS_CODING ZNF600 MODERATE|MISSENSE|cAc/cGc|H28R|722|ZNF600|protein_coding|CODING|ENST00000338230|exon_19_53268747_53271025 . . . 0/1:99:229,0,255 19 53668697 rs45499997 T C NON_SYNONYMOUS_CODING ZNF665 MODERATE|MISSENSE|aAt/aGt|N349S|678|ZNF665|protein_coding|CODING|ENST00000396424|exon_19_53666552_53669600 . . 0/1:99:255,0,251 . 19 53761857 rs112986288 G T NON_SYNONYMOUS_CODING VN1R2 MODERATE|MISSENSE|Gtc/Ttc|V77F|395|VN1R2|protein_coding|CODING|ENST00000341702|exon_19_53761545_53762855 . . . 0/1:99:190,0,255 19 53784899 rs75521956 C T NON_SYNONYMOUS_CODING AC092070.1 MODERATE|MISSENSE|aCg/aTg|T31M|460|AC092070.1|protein_coding|CODING|ENST00000338885|exon_19_53784808_53784930 . 0/1:66:63,0,190 . . 19 53787832 rs2865242 G C NON_SYNONYMOUS_CODING AC092070.1 MODERATE|MISSENSE|Gag/Cag|E339Q|460|AC092070.1|protein_coding|CODING|ENST00000338885|exon_19_53787253_53788200 0/1:99:124,0,202 1/1:99:250,78,0 . . 19 53787841 rs2865243 A G NON_SYNONYMOUS_CODING AC092070.1 MODERATE|MISSENSE|Aag/Gag|K342E|460|AC092070.1|protein_coding|CODING|ENST00000338885|exon_19_53787253_53788200 0/1:99:112,0,207 1/1:99:238,75,0 0/1:99:148,0,175 . 19 53792954 rs34683072 G A NON_SYNONYMOUS_CODING BIRC8 MODERATE|MISSENSE|gCg/gTg|A225V|236|BIRC8|protein_coding|CODING|ENST00000426466|exon_19_53792856_53794875 . . 0/1:99:176,0,241 . 19 53792955 rs35700345 C T NON_SYNONYMOUS_CODING BIRC8 MODERATE|MISSENSE|Gcg/Acg|A225T|236|BIRC8|protein_coding|CODING|ENST00000426466|exon_19_53792856_53794875 . . 0/1:99:182,0,240 . 19 53856349 rs55874600 A T NON_SYNONYMOUS_CODING ZNF845 MODERATE|MISSENSE|gaA/gaT|E723D|886|ZNF845|protein_coding|CODING|ENST00000427984|exon_19_53856156_53857808 . 0/1:99:255,0,246 0/1:99:255,0,255 . 19 53856349 rs55874600 A T NON_SYNONYMOUS_CODING ZNF845 MODERATE|MISSENSE|gaA/gaT|E807D|970|ZNF845|protein_coding|CODING|ENST00000458035|exon_19_53854071_53858122 . 0/1:99:255,0,246 0/1:99:255,0,255 . 19 54080067 rs61744130 T C NON_SYNONYMOUS_CODING ZNF331 MODERATE|MISSENSE|Tgt/Cgt|C85R|104|ZNF331|protein_coding|CODING|ENST00000511567|exon_19_54079951_54080129 0/1:99:255,0,255 . . . 19 54080067 rs61744130 T C NON_SYNONYMOUS_CODING ZNF331 MODERATE|MISSENSE|Tgt/Cgt|C85R|165|ZNF331|protein_coding|CODING|ENST00000514022|exon_19_54079951_54080314 0/1:99:255,0,255 . . . 19 54080067 rs61744130 T C NON_SYNONYMOUS_CODING ZNF331 MODERATE|MISSENSE|Tgt/Cgt|C85R|176|ZNF331|protein_coding|CODING|ENST00000505949|exon_19_54079951_54080346 0/1:99:255,0,255 . . . 19 54080067 rs61744130 T C NON_SYNONYMOUS_CODING ZNF331 MODERATE|MISSENSE|Tgt/Cgt|C85R|463|ZNF331|protein_coding|CODING|ENST00000253144|exon_19_54079951_54083523 0/1:99:255,0,255 . . . 19 54080067 rs61744130 T C NON_SYNONYMOUS_CODING ZNF331 MODERATE|MISSENSE|Tgt/Cgt|C85R|463|ZNF331|protein_coding|CODING|ENST00000411977|exon_19_54079951_54081640 0/1:99:255,0,255 . . . 19 54080067 rs61744130 T C NON_SYNONYMOUS_CODING ZNF331 MODERATE|MISSENSE|Tgt/Cgt|C85R|463|ZNF331|protein_coding|CODING|ENST00000449416|exon_19_54079951_54083523 0/1:99:255,0,255 . . . 19 54080067 rs61744130 T C NON_SYNONYMOUS_CODING ZNF331 MODERATE|MISSENSE|Tgt/Cgt|C85R|463|ZNF331|protein_coding|CODING|ENST00000511154|exon_19_54079951_54081640 0/1:99:255,0,255 . . . 19 54080067 rs61744130 T C NON_SYNONYMOUS_CODING ZNF331 MODERATE|MISSENSE|Tgt/Cgt|C85R|463|ZNF331|protein_coding|CODING|ENST00000511593|exon_19_54079951_54081335 0/1:99:255,0,255 . . . 19 54080067 rs61744130 T C NON_SYNONYMOUS_CODING ZNF331 MODERATE|MISSENSE|Tgt/Cgt|C85R|463|ZNF331|protein_coding|CODING|ENST00000512387|exon_19_54079951_54081643 0/1:99:255,0,255 . . . 19 54080067 rs61744130 T C NON_SYNONYMOUS_CODING ZNF331 MODERATE|MISSENSE|Tgt/Cgt|C85R|463|ZNF331|protein_coding|CODING|ENST00000513999|exon_19_54079951_54081335 0/1:99:255,0,255 . . . 19 54080067 rs61744130 T C NON_SYNONYMOUS_CODING ZNF331 MODERATE|MISSENSE|Tgt/Cgt|C85R|84|ZNF331|protein_coding|CODING|ENST00000502616|exon_19_54079951_54080071 0/1:99:255,0,255 . . . 19 54080067 rs61744130 T C NON_SYNONYMOUS_CODING ZNF331 MODERATE|MISSENSE|Tgt/Cgt|C85R|85|ZNF331|protein_coding|CODING|ENST00000509047|exon_19_54079951_54080074 0/1:99:255,0,255 . . . 19 54080067 rs61744130 T C NON_SYNONYMOUS_CODING ZNF331 MODERATE|MISSENSE|Tgt/Cgt|C85R|98|ZNF331|protein_coding|CODING|ENST00000513265|exon_19_54079951_54080107 0/1:99:255,0,255 . . . 19 54080067 rs61744130 T C NON_SYNONYMOUS_CODING ZNF331 MODERATE|MISSENSE|Tgt/Cgt|C85R|98|ZNF331|protein_coding|CODING|ENST00000514374|exon_19_54079951_54080113 0/1:99:255,0,255 . . . 19 54313707 rs34971363 G C NON_SYNONYMOUS_CODING NLRP12 MODERATE|MISSENSE|ttC/ttG|F402L|1004|NLRP12|protein_coding|CODING|ENST00000391775|exon_19_54312841_54314542 . . 0/1:99:186,0,255 . 19 54313707 rs34971363 G C NON_SYNONYMOUS_CODING NLRP12 MODERATE|MISSENSE|ttC/ttG|F402L|1004|NLRP12|protein_coding|CODING|ENST00000535162|exon_19_54312841_54314542 . . 0/1:99:186,0,255 . 19 54313707 rs34971363 G C NON_SYNONYMOUS_CODING NLRP12 MODERATE|MISSENSE|ttC/ttG|F402L|1005|NLRP12|protein_coding|CODING|ENST00000345770|exon_19_54312841_54314542 . . 0/1:99:186,0,255 . 19 54313707 rs34971363 G C NON_SYNONYMOUS_CODING NLRP12 MODERATE|MISSENSE|ttC/ttG|F402L|1061|NLRP12|protein_coding|CODING|ENST00000324134|exon_19_54312841_54314542 . . 0/1:99:186,0,255 . 19 54313707 rs34971363 G C NON_SYNONYMOUS_CODING NLRP12 MODERATE|MISSENSE|ttC/ttG|F402L|1062|NLRP12|protein_coding|CODING|ENST00000391773|exon_19_54312841_54314542 . . 0/1:99:186,0,255 . 19 54313707 rs34971363 G C NON_SYNONYMOUS_CODING NLRP12 MODERATE|MISSENSE|ttC/ttG|F402L|892|NLRP12|protein_coding|CODING|ENST00000354278|exon_19_54312841_54314542 . . 0/1:99:186,0,255 . 19 54313707 rs34971363 G C NON_SYNONYMOUS_CODING NLRP12 MODERATE|MISSENSE|ttC/ttG|F402L|892|NLRP12|protein_coding|CODING|ENST00000391772|exon_19_54312841_54314542 . . 0/1:99:186,0,255 . 19 54313707 rs34971363 G C NON_SYNONYMOUS_CODING NLRP12 MODERATE|MISSENSE|ttC/ttG|F402L|949|NLRP12|protein_coding|CODING|ENST00000351894|exon_19_54312841_54314542 . . 0/1:99:186,0,255 . 19 54556177 rs148825612 A T NON_SYNONYMOUS_CODING VSTM1 MODERATE|MISSENSE|Tgc/Agc|C23S|148|VSTM1|protein_coding|CODING|ENST00000366170|exon_19_54556153_54556228 . 0/1:99:172,0,210 . . 19 54573301 rs77768804 G A NON_SYNONYMOUS_CODING TARM1 MODERATE|MISSENSE|Cgg/Tgg|R258W|271|TARM1|protein_coding|CODING|ENST00000432826|exon_19_54573201_54573414 . 0/1:99:246,0,255 . . 19 54573301 rs77768804 G A NON_SYNONYMOUS_CODING TARM1 MODERATE|MISSENSE|Cgg/Tgg|R266W|279|TARM1|protein_coding|CODING|ENST00000446034|exon_19_54573201_54573414 . 0/1:99:246,0,255 . . 19 54578105 rs80087697 C T NON_SYNONYMOUS_CODING TARM1 MODERATE|MISSENSE|cGc/cAc|R111H|271|TARM1|protein_coding|CODING|ENST00000432826|exon_19_54578076_54578366 . 0/1:99:209,0,255 . . 19 54578105 rs80087697 C T NON_SYNONYMOUS_CODING TARM1 MODERATE|MISSENSE|cGc/cAc|R119H|279|TARM1|protein_coding|CODING|ENST00000446034|exon_19_54578076_54578366 . 0/1:99:209,0,255 . . 19 54610367 rs34939501 G C NON_SYNONYMOUS_CODING TFPT MODERATE|MISSENSE|gCc/gGc|A242G|244|TFPT|protein_coding|CODING|ENST00000391758|exon_19_54610327_54610476 . . 0/1:99:249,0,211 . 19 54610367 rs34939501 G C NON_SYNONYMOUS_CODING TFPT MODERATE|MISSENSE|gCc/gGc|A251G|253|TFPT|protein_coding|CODING|ENST00000391759|exon_19_54610320_54610476 . . 0/1:99:249,0,211 . 19 54662043 rs35089861 C T NON_SYNONYMOUS_CODING LENG1 MODERATE|MISSENSE|Gag/Aag|E97K|264|LENG1|protein_coding|CODING|ENST00000222224|exon_19_54662020_54662199 . 0/1:99:225,0,255 . . 19 54721256 rs117030367 A G NON_SYNONYMOUS_CODING LILRA6 MODERATE|MISSENSE|Tca/Cca|S561P|631|LILRA6|protein_coding|CODING|ENST00000440558|exon_19_54721188_54721343 0/1:99:98,0,195 . . . 19 54721256 rs117030367 A G NON_SYNONYMOUS_CODING LILRB3 MODERATE|MISSENSE|Tca/Cca|S561P|631|LILRB3|protein_coding|CODING|ENST00000391750|exon_19_54721188_54721343 0/1:99:98,0,195 . . . 19 54721256 rs117030367 A G NON_SYNONYMOUS_CODING LILRB3 MODERATE|MISSENSE|Tca/Cca|S561P|631|LILRB3|protein_coding|CODING|ENST00000424807|exon_19_54721188_54721343 0/1:99:98,0,195 . . . 19 54721256 rs117030367 A G NON_SYNONYMOUS_CODING LILRA6 MODERATE|MISSENSE|Tca/Cca|S562P|632|LILRA6|protein_coding|CODING|ENST00000270464|exon_19_54721188_54721346 0/1:99:98,0,195 . . . 19 54721256 rs117030367 A G NON_SYNONYMOUS_CODING LILRA6 MODERATE|MISSENSE|Tca/Cca|S562P|632|LILRA6|protein_coding|CODING|ENST00000419410|exon_19_54721188_54721346 0/1:99:98,0,195 . . . 19 54721256 rs117030367 A G NON_SYNONYMOUS_CODING LILRB3 MODERATE|MISSENSE|Tca/Cca|S562P|632|LILRB3|protein_coding|CODING|ENST00000245620|exon_19_54721188_54721346 0/1:99:98,0,195 . . . 19 54721256 rs117030367 A G NON_SYNONYMOUS_CODING LILRB3 MODERATE|MISSENSE|Tca/Cca|S573P|643|LILRB3|protein_coding|CODING|ENST00000346401|exon_19_54721188_54721343 0/1:99:98,0,195 . . . 19 54721256 rs117030367 A G NON_SYNONYMOUS_CODING LILRB3 MODERATE|MISSENSE|Tca/Cca|S578P|648|LILRB3|protein_coding|CODING|ENST00000407860|exon_19_54721188_54721343 0/1:99:98,0,195 . . . 19 54721320 rs1053002 C G NON_SYNONYMOUS_CODING LILRA6 MODERATE|MISSENSE|caG/caC|Q539H|631|LILRA6|protein_coding|CODING|ENST00000440558|exon_19_54721188_54721343 0/1:99:135,0,255 . . 0/1:99:159,0,117 19 54721320 rs1053002 C G NON_SYNONYMOUS_CODING LILRB3 MODERATE|MISSENSE|caG/caC|Q539H|631|LILRB3|protein_coding|CODING|ENST00000391750|exon_19_54721188_54721343 0/1:99:135,0,255 . . 0/1:99:159,0,117 19 54721320 rs1053002 C G NON_SYNONYMOUS_CODING LILRB3 MODERATE|MISSENSE|caG/caC|Q539H|631|LILRB3|protein_coding|CODING|ENST00000424807|exon_19_54721188_54721343 0/1:99:135,0,255 . . 0/1:99:159,0,117 19 54721320 rs1053002 C G NON_SYNONYMOUS_CODING LILRA6 MODERATE|MISSENSE|caG/caC|Q540H|632|LILRA6|protein_coding|CODING|ENST00000270464|exon_19_54721188_54721346 0/1:99:135,0,255 . . 0/1:99:159,0,117 19 54721320 rs1053002 C G NON_SYNONYMOUS_CODING LILRA6 MODERATE|MISSENSE|caG/caC|Q540H|632|LILRA6|protein_coding|CODING|ENST00000419410|exon_19_54721188_54721346 0/1:99:135,0,255 . . 0/1:99:159,0,117 19 54721320 rs1053002 C G NON_SYNONYMOUS_CODING LILRB3 MODERATE|MISSENSE|caG/caC|Q540H|632|LILRB3|protein_coding|CODING|ENST00000245620|exon_19_54721188_54721346 0/1:99:135,0,255 . . 0/1:99:159,0,117 19 54721320 rs1053002 C G NON_SYNONYMOUS_CODING LILRB3 MODERATE|MISSENSE|caG/caC|Q551H|643|LILRB3|protein_coding|CODING|ENST00000346401|exon_19_54721188_54721343 0/1:99:135,0,255 . . 0/1:99:159,0,117 19 54721320 rs1053002 C G NON_SYNONYMOUS_CODING LILRB3 MODERATE|MISSENSE|caG/caC|Q556H|648|LILRB3|protein_coding|CODING|ENST00000407860|exon_19_54721188_54721343 0/1:99:135,0,255 . . 0/1:99:159,0,117 19 54722250 rs1132610 T C NON_SYNONYMOUS_CODING LILRA6 MODERATE|MISSENSE|Agg/Ggg|R525G|631|LILRA6|protein_coding|CODING|ENST00000440558|exon_19_54722230_54722282 0/1:99:142,0,171 . . 0/1:99:123,0,216 19 54722250 rs1132610 T C NON_SYNONYMOUS_CODING LILRB3 MODERATE|MISSENSE|Agg/Ggg|R525G|631|LILRB3|protein_coding|CODING|ENST00000391750|exon_19_54722230_54722282 0/1:99:142,0,171 . . 0/1:99:123,0,216 19 54722250 rs1132610 T C NON_SYNONYMOUS_CODING LILRB3 MODERATE|MISSENSE|Agg/Ggg|R525G|631|LILRB3|protein_coding|CODING|ENST00000424807|exon_19_54722230_54722282 0/1:99:142,0,171 . . 0/1:99:123,0,216 19 54722250 rs1132610 T C NON_SYNONYMOUS_CODING LILRA6 MODERATE|MISSENSE|Agg/Ggg|R525G|632|LILRA6|protein_coding|CODING|ENST00000270464|exon_19_54722230_54722282 0/1:99:142,0,171 . . 0/1:99:123,0,216 19 54722250 rs1132610 T C NON_SYNONYMOUS_CODING LILRA6 MODERATE|MISSENSE|Agg/Ggg|R525G|632|LILRA6|protein_coding|CODING|ENST00000419410|exon_19_54722230_54722282 0/1:99:142,0,171 . . 0/1:99:123,0,216 19 54722250 rs1132610 T C NON_SYNONYMOUS_CODING LILRB3 MODERATE|MISSENSE|Agg/Ggg|R525G|632|LILRB3|protein_coding|CODING|ENST00000245620|exon_19_54722230_54722282 0/1:99:142,0,171 . . 0/1:99:123,0,216 19 54722250 rs1132610 T C NON_SYNONYMOUS_CODING LILRB3 MODERATE|MISSENSE|Agg/Ggg|R537G|643|LILRB3|protein_coding|CODING|ENST00000346401|exon_19_54722230_54722282 0/1:99:142,0,171 . . 0/1:99:123,0,216 19 54722250 rs1132610 T C NON_SYNONYMOUS_CODING LILRB3 MODERATE|MISSENSE|Agg/Ggg|R542G|648|LILRB3|protein_coding|CODING|ENST00000407860|exon_19_54722230_54722282 0/1:99:142,0,171 . . 0/1:99:123,0,216 19 54723030 rs61734493 C A NON_SYNONYMOUS_CODING LILRA6 MODERATE|MISSENSE|cGa/cTa|R465L|631|LILRA6|protein_coding|CODING|ENST00000440558|exon_19_54722998_54723114 . 0/1:64:61,0,254 0/1:99:225,0,253 . 19 54723030 rs61734493 C A NON_SYNONYMOUS_CODING LILRB3 MODERATE|MISSENSE|cGa/cTa|R465L|631|LILRB3|protein_coding|CODING|ENST00000391750|exon_19_54722998_54723114 . 0/1:64:61,0,254 0/1:99:225,0,253 . 19 54723030 rs61734493 C A NON_SYNONYMOUS_CODING LILRB3 MODERATE|MISSENSE|cGa/cTa|R465L|631|LILRB3|protein_coding|CODING|ENST00000424807|exon_19_54722998_54723114 . 0/1:64:61,0,254 0/1:99:225,0,253 . 19 54723030 rs61734493 C A NON_SYNONYMOUS_CODING LILRA6 MODERATE|MISSENSE|cGa/cTa|R465L|632|LILRA6|protein_coding|CODING|ENST00000270464|exon_19_54722998_54723114 . 0/1:64:61,0,254 0/1:99:225,0,253 . 19 54723030 rs61734493 C A NON_SYNONYMOUS_CODING LILRA6 MODERATE|MISSENSE|cGa/cTa|R465L|632|LILRA6|protein_coding|CODING|ENST00000419410|exon_19_54722998_54723114 . 0/1:64:61,0,254 0/1:99:225,0,253 . 19 54723030 rs61734493 C A NON_SYNONYMOUS_CODING LILRB3 MODERATE|MISSENSE|cGa/cTa|R465L|632|LILRB3|protein_coding|CODING|ENST00000245620|exon_19_54722998_54723114 . 0/1:64:61,0,254 0/1:99:225,0,253 . 19 54723030 rs61734493 C A NON_SYNONYMOUS_CODING LILRB3 MODERATE|MISSENSE|cGa/cTa|R477L|643|LILRB3|protein_coding|CODING|ENST00000346401|exon_19_54722998_54723114 . 0/1:64:61,0,254 0/1:99:225,0,253 . 19 54723030 rs61734493 C A NON_SYNONYMOUS_CODING LILRB3 MODERATE|MISSENSE|cGa/cTa|R482L|648|LILRB3|protein_coding|CODING|ENST00000407860|exon_19_54722998_54723114 . 0/1:64:61,0,254 0/1:99:225,0,253 . 19 54724443 rs201735825 G A NON_SYNONYMOUS_CODING LILRA6 MODERATE|MISSENSE|Cac/Tac|H405Y|631|LILRA6|protein_coding|CODING|ENST00000440558|exon_19_54724398_54724700 1/1:14:63,8,0 . . . 19 54724443 rs201735825 G A NON_SYNONYMOUS_CODING LILRB3 MODERATE|MISSENSE|Cac/Tac|H405Y|631|LILRB3|protein_coding|CODING|ENST00000391750|exon_19_54724398_54724700 1/1:14:63,8,0 . . . 19 54724443 rs201735825 G A NON_SYNONYMOUS_CODING LILRB3 MODERATE|MISSENSE|Cac/Tac|H405Y|631|LILRB3|protein_coding|CODING|ENST00000424807|exon_19_54724398_54724700 1/1:14:63,8,0 . . . 19 54724443 rs201735825 G A NON_SYNONYMOUS_CODING LILRA6 MODERATE|MISSENSE|Cac/Tac|H405Y|632|LILRA6|protein_coding|CODING|ENST00000270464|exon_19_54724398_54724700 1/1:14:63,8,0 . . . 19 54724443 rs201735825 G A NON_SYNONYMOUS_CODING LILRB3 MODERATE|MISSENSE|Cac/Tac|H405Y|632|LILRB3|protein_coding|CODING|ENST00000245620|exon_19_54724398_54724700 1/1:14:63,8,0 . . . 19 54724443 rs201735825 G A NON_SYNONYMOUS_CODING LILRB3 MODERATE|MISSENSE|Cac/Tac|H405Y|643|LILRB3|protein_coding|CODING|ENST00000346401|exon_19_54724398_54724700 1/1:14:63,8,0 . . . 19 54724443 rs201735825 G A NON_SYNONYMOUS_CODING LILRB3 MODERATE|MISSENSE|Cac/Tac|H405Y|648|LILRB3|protein_coding|CODING|ENST00000407860|exon_19_54724398_54724700 1/1:14:63,8,0 . . . 19 54725913 rs199822090 C T NON_SYNONYMOUS_CODING LILRB3 MODERATE|MISSENSE|Gga/Aga|G149R|157|LILRB3|protein_coding|CODING|ENST00000445347|exon_19_54725883_54726002 . . . 1/1:5:67,2,0 19 54725913 rs199822090 C T NON_SYNONYMOUS_CODING LILRB3 MODERATE|MISSENSE|Gga/Aga|G149R|631|LILRB3|protein_coding|CODING|ENST00000391750|exon_19_54725700_54726002 . . . 1/1:5:67,2,0 19 54725913 rs199822090 C T NON_SYNONYMOUS_CODING LILRB3 MODERATE|MISSENSE|Gga/Aga|G149R|631|LILRB3|protein_coding|CODING|ENST00000424807|exon_19_54725700_54726002 . . . 1/1:5:67,2,0 19 54725913 rs199822090 C T NON_SYNONYMOUS_CODING LILRB3 MODERATE|MISSENSE|Gga/Aga|G149R|632|LILRB3|protein_coding|CODING|ENST00000245620|exon_19_54725700_54726002 . . . 1/1:5:67,2,0 19 54725913 rs199822090 C T NON_SYNONYMOUS_CODING LILRB3 MODERATE|MISSENSE|Gga/Aga|G149R|643|LILRB3|protein_coding|CODING|ENST00000346401|exon_19_54725700_54726002 . . . 1/1:5:67,2,0 19 54725913 rs199822090 C T NON_SYNONYMOUS_CODING LILRB3 MODERATE|MISSENSE|Gga/Aga|G149R|648|LILRB3|protein_coding|CODING|ENST00000407860|exon_19_54725700_54726002 . . . 1/1:5:67,2,0 19 54742900 rs117376661 C G NON_SYNONYMOUS_CODING LILRA6 MODERATE|MISSENSE|Gtg/Ctg|V442L|464|LILRA6|protein_coding|CODING|ENST00000245621|exon_19_54742829_54742965 . 0/1:99:237,0,224 0/1:99:222,0,255 . 19 54742900 rs117376661 C G NON_SYNONYMOUS_CODING LILRA6 MODERATE|MISSENSE|Gtg/Ctg|V459L|481|LILRA6|protein_coding|CODING|ENST00000396365|exon_19_54742425_54742965 . 0/1:99:237,0,224 0/1:99:222,0,255 . 19 54744919 rs61734504 T A NON_SYNONYMOUS_CODING LILRA6 MODERATE|MISSENSE|gAt/gTt|D248V|455|LILRA6|protein_coding|CODING|ENST00000421123|exon_19_54744707_54745003 . . 0/1:68:65,0,212 . 19 54744919 rs61734504 T A NON_SYNONYMOUS_CODING LILRA6 MODERATE|MISSENSE|gAt/gTt|D248V|464|LILRA6|protein_coding|CODING|ENST00000245621|exon_19_54744707_54745003 . . 0/1:68:65,0,212 . 19 54744919 rs61734504 T A NON_SYNONYMOUS_CODING LILRA6 MODERATE|MISSENSE|gAt/gTt|D248V|481|LILRA6|protein_coding|CODING|ENST00000396365|exon_19_54744707_54745003 . . 0/1:68:65,0,212 . 19 54744919 rs61734504 T A NON_SYNONYMOUS_CODING LILRA6 MODERATE|MISSENSE|gAt/gTt|D248V|631|LILRA6|protein_coding|CODING|ENST00000440558|exon_19_54744707_54745003 . . 0/1:68:65,0,212 . 19 54744919 rs61734504 T A NON_SYNONYMOUS_CODING LILRA6 MODERATE|MISSENSE|gAt/gTt|D248V|632|LILRA6|protein_coding|CODING|ENST00000419410|exon_19_54744707_54745003 . . 0/1:68:65,0,212 . 19 54745497 rs146470981 G A NON_SYNONYMOUS_CODING LILRA6 MODERATE|MISSENSE|Cgg/Tgg|R205W|455|LILRA6|protein_coding|CODING|ENST00000421123|exon_19_54745452_54745754 . . 0/1:56:53,0,114 . 19 54745497 rs146470981 G A NON_SYNONYMOUS_CODING LILRA6 MODERATE|MISSENSE|Cgg/Tgg|R205W|464|LILRA6|protein_coding|CODING|ENST00000245621|exon_19_54745452_54745754 . . 0/1:56:53,0,114 . 19 54745497 rs146470981 G A NON_SYNONYMOUS_CODING LILRA6 MODERATE|MISSENSE|Cgg/Tgg|R205W|481|LILRA6|protein_coding|CODING|ENST00000396365|exon_19_54745452_54745754 . . 0/1:56:53,0,114 . 19 54745497 rs146470981 G A NON_SYNONYMOUS_CODING LILRA6 MODERATE|MISSENSE|Cgg/Tgg|R205W|631|LILRA6|protein_coding|CODING|ENST00000440558|exon_19_54745452_54745754 . . 0/1:56:53,0,114 . 19 54745497 rs146470981 G A NON_SYNONYMOUS_CODING LILRA6 MODERATE|MISSENSE|Cgg/Tgg|R205W|632|LILRA6|protein_coding|CODING|ENST00000270464|exon_19_54745452_54745754 . . 0/1:56:53,0,114 . 19 54745497 rs146470981 G A NON_SYNONYMOUS_CODING LILRA6 MODERATE|MISSENSE|Cgg/Tgg|R205W|632|LILRA6|protein_coding|CODING|ENST00000419410|exon_19_54745452_54745754 . . 0/1:56:53,0,114 . 19 54745665 rs1052966 C T NON_SYNONYMOUS_CODING LILRA6 MODERATE|MISSENSE|Gga/Aga|G149R|193|LILRA6|protein_coding|CODING|ENST00000391735|exon_19_54745538_54745754 0/1:67:64,0,89 . . . 19 54745665 rs1052966 C T NON_SYNONYMOUS_CODING LILRA6 MODERATE|MISSENSE|Gga/Aga|G149R|455|LILRA6|protein_coding|CODING|ENST00000421123|exon_19_54745452_54745754 0/1:67:64,0,89 . . . 19 54745665 rs1052966 C T NON_SYNONYMOUS_CODING LILRA6 MODERATE|MISSENSE|Gga/Aga|G149R|464|LILRA6|protein_coding|CODING|ENST00000245621|exon_19_54745452_54745754 0/1:67:64,0,89 . . . 19 54745665 rs1052966 C T NON_SYNONYMOUS_CODING LILRA6 MODERATE|MISSENSE|Gga/Aga|G149R|481|LILRA6|protein_coding|CODING|ENST00000396365|exon_19_54745452_54745754 0/1:67:64,0,89 . . . 19 54745665 rs1052966 C T NON_SYNONYMOUS_CODING LILRA6 MODERATE|MISSENSE|Gga/Aga|G149R|631|LILRA6|protein_coding|CODING|ENST00000440558|exon_19_54745452_54745754 0/1:67:64,0,89 . . . 19 54745665 rs1052966 C T NON_SYNONYMOUS_CODING LILRA6 MODERATE|MISSENSE|Gga/Aga|G149R|632|LILRA6|protein_coding|CODING|ENST00000270464|exon_19_54745452_54745754 0/1:67:64,0,89 . . . 19 54745665 rs1052966 C T NON_SYNONYMOUS_CODING LILRA6 MODERATE|MISSENSE|Gga/Aga|G149R|632|LILRA6|protein_coding|CODING|ENST00000419410|exon_19_54745452_54745754 0/1:67:64,0,89 . . . 19 54754942 rs142193233 G A NON_SYNONYMOUS_CODING LILRB5 MODERATE|MISSENSE|Cca/Tca|P565S|622|LILRB5|protein_coding|CODING|ENST00000450632|exon_19_54754269_54755032 . 0/1:57:54,0,234 0/1:74:71,0,186 . 19 54780706 . AGAGGAGGAGGAGGAGGAGGAG AGAGGAGGAGGAGGAGGAGGAGGAG CODON_CHANGE_PLUS_CODON_INSERTION LILRB2 MODERATE||ctg/ctCTCg|L356LS|482|LILRB2|protein_coding|CODING|ENST00000434421|exon_19_54780661_54780783 . . . 0/1:99:162,0,237 19 54780706 . AGAGGAGGAGGAGGAGGAGGAG AGAGGAGGAGGAGGAGGAGGAGGAG CODON_CHANGE_PLUS_CODON_INSERTION LILRB2 MODERATE||ctg/ctCTCg|L471LS|597|LILRB2|protein_coding|CODING|ENST00000314446|exon_19_54780661_54780783 . . . 0/1:99:162,0,237 19 54780706 . AGAGGAGGAGGAGGAGGAGGAG AGAGGAGGAGGAGGAGGAGGAGGAG CODON_CHANGE_PLUS_CODON_INSERTION LILRB2 MODERATE||ctg/ctCTCg|L471LS|597|LILRB2|protein_coding|CODING|ENST00000391748|exon_19_54780661_54780783 . . . 0/1:99:162,0,237 19 54780706 . AGAGGAGGAGGAGGAGGAGGAG AGAGGAGGAGGAGGAGGAGGAGGAG CODON_CHANGE_PLUS_CODON_INSERTION LILRB2 MODERATE||ctg/ctCTCg|L472LS|510|LILRB2|protein_coding|CODING|ENST00000391746|exon_19_54780661_54780783 . . . 0/1:99:162,0,237 19 54780706 . AGAGGAGGAGGAGGAGGAGGAG AGAGGAGGAGGAGGAGGAGGAGGAG CODON_CHANGE_PLUS_CODON_INSERTION LILRB2 MODERATE||ctg/ctCTCg|L472LS|598|LILRB2|protein_coding|CODING|ENST00000391749|exon_19_54780661_54780783 . . . 0/1:99:162,0,237 19 54804167 rs11574606 G A NON_SYNONYMOUS_CODING LILRA3 MODERATE|MISSENSE|Ccc/Tcc|P20S|456|LILRA3|protein_coding|CODING|ENST00000391745|exon_19_54804140_54804221 . . 0/1:99:217,0,239 . 19 54804167 rs11574606 G A NON_SYNONYMOUS_CODING LILRA3 MODERATE|MISSENSE|Ccc/Tcc|P3S|375|LILRA3|protein_coding|CODING|ENST00000391744|exon_19_54804140_54804173 . . 0/1:99:217,0,239 . 19 54804167 rs11574606 G A NON_SYNONYMOUS_CODING LILRA3 MODERATE|MISSENSE|Ccc/Tcc|P3S|439|LILRA3|protein_coding|CODING|ENST00000251390|exon_19_54804140_54804265 . . 0/1:99:217,0,239 . 19 54871664 rs74463408 G C NON_SYNONYMOUS_CODING LAIR1 MODERATE|MISSENSE|cCg/cGg|P109R|269|LAIR1|protein_coding|CODING|ENST00000391743|exon_19_54871629_54871679 . . . 0/1:99:177,0,150 19 54871664 rs74463408 G C NON_SYNONYMOUS_CODING LAIR1 MODERATE|MISSENSE|cCg/cGg|P120R|280|LAIR1|protein_coding|CODING|ENST00000313038|exon_19_54871629_54871679 . . . 0/1:99:177,0,150 19 54871664 rs74463408 G C NON_SYNONYMOUS_CODING LAIR1 MODERATE|MISSENSE|cCg/cGg|P126R|286|LAIR1|protein_coding|CODING|ENST00000434277|exon_19_54871629_54871679 . . . 0/1:99:177,0,150 19 54871664 rs74463408 G C NON_SYNONYMOUS_CODING LAIR1 MODERATE|MISSENSE|cCg/cGg|P127R|287|LAIR1|protein_coding|CODING|ENST00000391742|exon_19_54871629_54871679 . . . 0/1:99:177,0,150 19 54871664 rs74463408 G C NON_SYNONYMOUS_CODING LAIR1 MODERATE|MISSENSE|cCg/cGg|P17R|79|LAIR1|protein_coding|CODING|ENST00000444687|exon_19_54871629_54871679 . . . 0/1:99:177,0,150 19 55019371 rs61737870 C G NON_SYNONYMOUS_CODING LAIR2 MODERATE|MISSENSE|caC/caG|H112Q|135|LAIR2|protein_coding|CODING|ENST00000351841|exon_19_55019106_55019399 . . . 0/1:99:177,0,161 19 55019371 rs61737870 C G NON_SYNONYMOUS_CODING LAIR2 MODERATE|MISSENSE|caC/caG|H112Q|152|LAIR2|protein_coding|CODING|ENST00000301202|exon_19_55019106_55019399 . . . 0/1:99:177,0,161 19 55087313 rs7249811 T G NON_SYNONYMOUS_CODING LILRA2 MODERATE|MISSENSE|gTc/gGc|V319G|454|LILRA2|protein_coding|CODING|ENST00000391737|exon_19_55087274_55087576 . . . 0/1:99:204,0,238 19 55087313 rs7249811 T G NON_SYNONYMOUS_CODING LILRA2 MODERATE|MISSENSE|gTc/gGc|V331G|466|LILRA2|protein_coding|CODING|ENST00000251376|exon_19_55087274_55087576 . . . 0/1:99:204,0,238 19 55087313 rs7249811 T G NON_SYNONYMOUS_CODING LILRA2 MODERATE|MISSENSE|gTc/gGc|V331G|483|LILRA2|protein_coding|CODING|ENST00000251377|exon_19_55087274_55087576 . . . 0/1:99:204,0,238 19 55087313 rs7249811 T G NON_SYNONYMOUS_CODING LILRA2 MODERATE|MISSENSE|gTc/gGc|V331G|483|LILRA2|protein_coding|CODING|ENST00000391738|exon_19_55087274_55087576 . . . 0/1:99:204,0,238 19 55106663 rs10417589 A G NON_SYNONYMOUS_CODING LILRA1 MODERATE|MISSENSE|Agc/Ggc|S153G|289|LILRA1|protein_coding|CODING|ENST00000453777|exon_19_55106565_55106867 . . . 0/1:99:143,0,194 19 55106663 rs10417589 A G NON_SYNONYMOUS_CODING LILRA1 MODERATE|MISSENSE|Agc/Ggc|S153G|489|LILRA1|protein_coding|CODING|ENST00000251372|exon_19_55106565_55106867 . . . 0/1:99:143,0,194 19 55106778 rs10418391 G A NON_SYNONYMOUS_CODING LILRA1 MODERATE|MISSENSE|cGc/cAc|R191H|289|LILRA1|protein_coding|CODING|ENST00000453777|exon_19_55106565_55106867 . . . 0/1:99:255,0,178 19 55106778 rs10418391 G A NON_SYNONYMOUS_CODING LILRA1 MODERATE|MISSENSE|cGc/cAc|R191H|489|LILRA1|protein_coding|CODING|ENST00000251372|exon_19_55106565_55106867 . . . 0/1:99:255,0,178 19 55179128 rs2764337 A C NON_SYNONYMOUS_CODING LILRB4 MODERATE|MISSENSE|Aag/Cag|K361Q|398|LILRB4|protein_coding|CODING|ENST00000434286|exon_19_55179086_55179244 . 0/1:99:187,0,177 . . 19 55179128 rs2764337 A C NON_SYNONYMOUS_CODING LILRB4 MODERATE|MISSENSE|Aag/Cag|K361Q|447|LILRB4|protein_coding|CODING|ENST00000430952|exon_19_55179089_55179244 . 0/1:99:187,0,177 . . 19 55179128 rs2764337 A C NON_SYNONYMOUS_CODING LILRB4 MODERATE|MISSENSE|Aag/Cag|K362Q|448|LILRB4|protein_coding|CODING|ENST00000270452|exon_19_55179086_55179244 . 0/1:99:187,0,177 . . 19 55179128 rs2764337 A C NON_SYNONYMOUS_CODING LILRB4 MODERATE|MISSENSE|Aag/Cag|K362Q|448|LILRB4|protein_coding|CODING|ENST00000391736|exon_19_55179086_55179244 . 0/1:99:187,0,177 . . 19 55179128 rs2764337 A C NON_SYNONYMOUS_CODING LILRB4 MODERATE|MISSENSE|Aag/Cag|K363Q|449|LILRB4|protein_coding|CODING|ENST00000391733|exon_19_55179086_55179244 . 0/1:99:187,0,177 . . 19 55179129 rs11574589 A C NON_SYNONYMOUS_CODING LILRB4 MODERATE|MISSENSE|aAg/aCg|K361T|398|LILRB4|protein_coding|CODING|ENST00000434286|exon_19_55179086_55179244 . 0/1:99:190,0,166 . . 19 55179129 rs11574589 A C NON_SYNONYMOUS_CODING LILRB4 MODERATE|MISSENSE|aAg/aCg|K361T|447|LILRB4|protein_coding|CODING|ENST00000430952|exon_19_55179089_55179244 . 0/1:99:190,0,166 . . 19 55179129 rs11574589 A C NON_SYNONYMOUS_CODING LILRB4 MODERATE|MISSENSE|aAg/aCg|K362T|448|LILRB4|protein_coding|CODING|ENST00000270452|exon_19_55179086_55179244 . 0/1:99:190,0,166 . . 19 55179129 rs11574589 A C NON_SYNONYMOUS_CODING LILRB4 MODERATE|MISSENSE|aAg/aCg|K362T|448|LILRB4|protein_coding|CODING|ENST00000391736|exon_19_55179086_55179244 . 0/1:99:190,0,166 . . 19 55179129 rs11574589 A C NON_SYNONYMOUS_CODING LILRB4 MODERATE|MISSENSE|aAg/aCg|K363T|449|LILRB4|protein_coding|CODING|ENST00000391733|exon_19_55179086_55179244 . 0/1:99:190,0,166 . . 19 55284824 rs199532589 G C NON_SYNONYMOUS_CODING KIR2DL1 MODERATE|MISSENSE|cGc/cCc|R37P|348|KIR2DL1|protein_coding|CODING|ENST00000336077|exon_19_55284785_55285084 . . 1/1:57:140,30,0 . 19 55284824 rs199532589 G C NON_SYNONYMOUS_CODING KIR2DL1 MODERATE|MISSENSE|cGc/cCc|R37P|374|KIR2DL1|protein_coding|CODING|ENST00000291633|exon_19_55284785_55285084 . . 1/1:57:140,30,0 . 19 55333139 rs1049215 G C NON_SYNONYMOUS_CODING KIR3DL1 MODERATE|MISSENSE|Ggg/Cgg|G164R|349|KIR3DL1|protein_coding|CODING|ENST00000358178|exon_19_55333020_55333313 . . 0/1:41:64,0,38 . 19 55333139 rs1049215 G C NON_SYNONYMOUS_CODING KIR3DL1 MODERATE|MISSENSE|Ggg/Cgg|G237R|422|KIR3DL1|protein_coding|CODING|ENST00000355608|exon_19_55333020_55333313 . . 0/1:41:64,0,38 . 19 55333139 rs1049215 G C NON_SYNONYMOUS_CODING KIR3DL1 MODERATE|MISSENSE|Ggg/Cgg|G259R|427|KIR3DL1|protein_coding|CODING|ENST00000326542|exon_19_55333020_55333313 . . 0/1:41:64,0,38 . 19 55333139 rs1049215 G C NON_SYNONYMOUS_CODING KIR3DL1 MODERATE|MISSENSE|Ggg/Cgg|G259R|427|KIR3DL1|protein_coding|CODING|ENST00000541392|exon_19_55333020_55333313 . . 0/1:41:64,0,38 . 19 55333139 rs1049215 G C NON_SYNONYMOUS_CODING KIR3DL1 MODERATE|MISSENSE|Ggg/Cgg|G259R|444|KIR3DL1|protein_coding|CODING|ENST00000391728|exon_19_55333020_55333313 . . 0/1:41:64,0,38 . 19 55333139 rs1049215 G C NON_SYNONYMOUS_CODING KIR3DL1 MODERATE|MISSENSE|Ggg/Cgg|G259R|444|KIR3DL1|protein_coding|CODING|ENST00000538269|exon_19_55333020_55333313 . . 0/1:41:64,0,38 . 19 55333139 rs1049215 G C NON_SYNONYMOUS_CODING KIR3DL1 MODERATE|MISSENSE|Ggg/Cgg|G259R|455|KIR3DL1|protein_coding|CODING|ENST00000402254|exon_19_55333020_55333313 . . 0/1:41:64,0,38 . 19 55494111 rs148817929 G C NON_SYNONYMOUS_CODING NLRP2 MODERATE|MISSENSE|Gag/Cag|E325Q|1038|NLRP2|protein_coding|CODING|ENST00000391721|exon_19_55493530_55495096 . 0/1:99:172,0,187 . . 19 55494111 rs148817929 G C NON_SYNONYMOUS_CODING NLRP2 MODERATE|MISSENSE|Gag/Cag|E325Q|1038|NLRP2|protein_coding|CODING|ENST00000538819|exon_19_55493530_55495096 . 0/1:99:172,0,187 . . 19 55494111 rs148817929 G C NON_SYNONYMOUS_CODING NLRP2 MODERATE|MISSENSE|Gag/Cag|E326Q|1039|NLRP2|protein_coding|CODING|ENST00000427260|exon_19_55493530_55495096 . 0/1:99:172,0,187 . . 19 55494111 rs148817929 G C NON_SYNONYMOUS_CODING NLRP2 MODERATE|MISSENSE|Gag/Cag|E327Q|1040|NLRP2|protein_coding|CODING|ENST00000339757|exon_19_55493530_55495096 . 0/1:99:172,0,187 . . 19 55494111 rs148817929 G C NON_SYNONYMOUS_CODING NLRP2 MODERATE|MISSENSE|Gag/Cag|E327Q|1040|NLRP2|protein_coding|CODING|ENST00000537859|exon_19_55493530_55495096 . 0/1:99:172,0,187 . . 19 55494111 rs148817929 G C NON_SYNONYMOUS_CODING NLRP2 MODERATE|MISSENSE|Gag/Cag|E346Q|1059|NLRP2|protein_coding|CODING|ENST00000263437|exon_19_55493530_55495096 . 0/1:99:172,0,187 . . 19 55494111 rs148817929 G C NON_SYNONYMOUS_CODING NLRP2 MODERATE|MISSENSE|Gag/Cag|E349Q|1062|NLRP2|protein_coding|CODING|ENST00000448584|exon_19_55493530_55495096 . 0/1:99:172,0,187 . . 19 55494111 rs148817929 G C NON_SYNONYMOUS_CODING NLRP2 MODERATE|MISSENSE|Gag/Cag|E349Q|1062|NLRP2|protein_coding|CODING|ENST00000543010|exon_19_55493530_55495096 . 0/1:99:172,0,187 . . 19 55494114 rs142528551 G C NON_SYNONYMOUS_CODING NLRP2 MODERATE|MISSENSE|Gag/Cag|E326Q|1038|NLRP2|protein_coding|CODING|ENST00000391721|exon_19_55493530_55495096 . 0/1:99:207,0,158 . . 19 55494114 rs142528551 G C NON_SYNONYMOUS_CODING NLRP2 MODERATE|MISSENSE|Gag/Cag|E326Q|1038|NLRP2|protein_coding|CODING|ENST00000538819|exon_19_55493530_55495096 . 0/1:99:207,0,158 . . 19 55494114 rs142528551 G C NON_SYNONYMOUS_CODING NLRP2 MODERATE|MISSENSE|Gag/Cag|E327Q|1039|NLRP2|protein_coding|CODING|ENST00000427260|exon_19_55493530_55495096 . 0/1:99:207,0,158 . . 19 55494114 rs142528551 G C NON_SYNONYMOUS_CODING NLRP2 MODERATE|MISSENSE|Gag/Cag|E328Q|1040|NLRP2|protein_coding|CODING|ENST00000339757|exon_19_55493530_55495096 . 0/1:99:207,0,158 . . 19 55494114 rs142528551 G C NON_SYNONYMOUS_CODING NLRP2 MODERATE|MISSENSE|Gag/Cag|E328Q|1040|NLRP2|protein_coding|CODING|ENST00000537859|exon_19_55493530_55495096 . 0/1:99:207,0,158 . . 19 55494114 rs142528551 G C NON_SYNONYMOUS_CODING NLRP2 MODERATE|MISSENSE|Gag/Cag|E347Q|1059|NLRP2|protein_coding|CODING|ENST00000263437|exon_19_55493530_55495096 . 0/1:99:207,0,158 . . 19 55494114 rs142528551 G C NON_SYNONYMOUS_CODING NLRP2 MODERATE|MISSENSE|Gag/Cag|E350Q|1062|NLRP2|protein_coding|CODING|ENST00000448584|exon_19_55493530_55495096 . 0/1:99:207,0,158 . . 19 55494114 rs142528551 G C NON_SYNONYMOUS_CODING NLRP2 MODERATE|MISSENSE|Gag/Cag|E350Q|1062|NLRP2|protein_coding|CODING|ENST00000543010|exon_19_55493530_55495096 . 0/1:99:207,0,158 . . 19 55494126 rs61735077 A G NON_SYNONYMOUS_CODING NLRP2 MODERATE|MISSENSE|Ata/Gta|I330V|1038|NLRP2|protein_coding|CODING|ENST00000391721|exon_19_55493530_55495096 0/1:99:249,0,255 . . . 19 55494126 rs61735077 A G NON_SYNONYMOUS_CODING NLRP2 MODERATE|MISSENSE|Ata/Gta|I330V|1038|NLRP2|protein_coding|CODING|ENST00000538819|exon_19_55493530_55495096 0/1:99:249,0,255 . . . 19 55494126 rs61735077 A G NON_SYNONYMOUS_CODING NLRP2 MODERATE|MISSENSE|Ata/Gta|I331V|1039|NLRP2|protein_coding|CODING|ENST00000427260|exon_19_55493530_55495096 0/1:99:249,0,255 . . . 19 55494126 rs61735077 A G NON_SYNONYMOUS_CODING NLRP2 MODERATE|MISSENSE|Ata/Gta|I332V|1040|NLRP2|protein_coding|CODING|ENST00000339757|exon_19_55493530_55495096 0/1:99:249,0,255 . . . 19 55494126 rs61735077 A G NON_SYNONYMOUS_CODING NLRP2 MODERATE|MISSENSE|Ata/Gta|I332V|1040|NLRP2|protein_coding|CODING|ENST00000537859|exon_19_55493530_55495096 0/1:99:249,0,255 . . . 19 55494126 rs61735077 A G NON_SYNONYMOUS_CODING NLRP2 MODERATE|MISSENSE|Ata/Gta|I351V|1059|NLRP2|protein_coding|CODING|ENST00000263437|exon_19_55493530_55495096 0/1:99:249,0,255 . . . 19 55494126 rs61735077 A G NON_SYNONYMOUS_CODING NLRP2 MODERATE|MISSENSE|Ata/Gta|I354V|1062|NLRP2|protein_coding|CODING|ENST00000448584|exon_19_55493530_55495096 0/1:99:249,0,255 . . . 19 55494126 rs61735077 A G NON_SYNONYMOUS_CODING NLRP2 MODERATE|MISSENSE|Ata/Gta|I354V|1062|NLRP2|protein_coding|CODING|ENST00000543010|exon_19_55493530_55495096 0/1:99:249,0,255 . . . 19 55658387 rs112562759 T C NON_SYNONYMOUS_CODING TNNT1 MODERATE|MISSENSE|gAg/gGg|E12G|251|TNNT1|protein_coding|CODING|ENST00000356783|exon_19_55658376_55658389 . 0/1:99:231,0,113 . 0/1:99:125,0,124 19 55658387 rs112562759 T C NON_SYNONYMOUS_CODING TNNT1 MODERATE|MISSENSE|gAg/gGg|E12G|251|TNNT1|protein_coding|CODING|ENST00000536926|exon_19_55658376_55658389 . 0/1:99:231,0,113 . 0/1:99:125,0,124 19 55658387 rs112562759 T C NON_SYNONYMOUS_CODING TNNT1 MODERATE|MISSENSE|gAg/gGg|E12G|278|TNNT1|protein_coding|CODING|ENST00000291901|exon_19_55658376_55658389 . 0/1:99:231,0,113 . 0/1:99:125,0,124 19 55658387 rs112562759 T C NON_SYNONYMOUS_CODING TNNT1 MODERATE|MISSENSE|gAg/gGg|E31G|172|TNNT1|protein_coding|CODING|ENST00000429737|exon_19_55658376_55658389 . 0/1:99:231,0,113 . 0/1:99:125,0,124 19 55790903 rs140649061 C A NON_SYNONYMOUS_CODING HSPBP1 MODERATE|MISSENSE|gGg/gTg|G25V|257|HSPBP1|protein_coding|CODING|ENST00000376343|exon_19_55790767_55791070 . . . 0/1:99:196,0,114 19 55790903 rs140649061 C A NON_SYNONYMOUS_CODING HSPBP1 MODERATE|MISSENSE|gGg/gTg|G25V|359|HSPBP1|protein_coding|CODING|ENST00000255631|exon_19_55790767_55791070 . . . 0/1:99:196,0,114 19 55790903 rs140649061 C A NON_SYNONYMOUS_CODING HSPBP1 MODERATE|MISSENSE|gGg/gTg|G25V|359|HSPBP1|protein_coding|CODING|ENST00000433386|exon_19_55790767_55791070 . . . 0/1:99:196,0,114 19 55895345 . C T NON_SYNONYMOUS_CODING TMEM238 MODERATE|MISSENSE|Gag/Aag|E95K|176|TMEM238|protein_coding|CODING|ENST00000444469|exon_19_55895090_55895627 1/1:10:70,6,0 . . . 19 55912910 rs201696148 G A NON_SYNONYMOUS_CODING UBE2S MODERATE|MISSENSE|cCg/cTg|P188L|222|UBE2S|protein_coding|CODING|ENST00000264552|exon_19_55912652_55913130 . 0/1:99:176,0,193 . . 19 55914444 rs2891577 T C NON_SYNONYMOUS_CODING RPL28 MODERATE|MISSENSE|tTg/tCg|L153S|170|RPL28|protein_coding|CODING|ENST00000560055|exon_19_55914311_55914612 0/1:99:255,0,251 . . . 19 55994823 rs115143283 G A NON_SYNONYMOUS_CODING ZNF628 MODERATE|MISSENSE|Ggc/Agc|G751S|1055|ZNF628|protein_coding|CODING|ENST00000391718|exon_19_55992568_55995854 0/1:99:131,0,109 . . . 19 56009465 rs11672130 G A NON_SYNONYMOUS_CODING SSC5D MODERATE|MISSENSE|Ggc/Agc|G536S|1573|SSC5D|protein_coding|CODING|ENST00000389623|exon_19_56009247_56009564 . 0/1:99:152,0,255 . . 19 56009465 rs11672130 G A NON_SYNONYMOUS_CODING SSC5D MODERATE|MISSENSE|Ggc/Agc|G536S|953|SSC5D|protein_coding|CODING|ENST00000541230|exon_19_56009247_56009564 . 0/1:99:152,0,255 . . 19 56029188 rs77400028 C G NON_SYNONYMOUS_CODING SSC5D MODERATE|MISSENSE|aCc/aGc|T1182S|1573|SSC5D|protein_coding|CODING|ENST00000389623|exon_19_56028591_56030466 0/1:85:82,0,123 . . . 19 56029191 rs76172483 C T NON_SYNONYMOUS_CODING SSC5D MODERATE|MISSENSE|aCg/aTg|T1183M|1573|SSC5D|protein_coding|CODING|ENST00000389623|exon_19_56028591_56030466 0/1:80:92,0,77 . . . 19 56029201 rs74585733 C A NON_SYNONYMOUS_CODING SSC5D MODERATE|MISSENSE|caC/caA|H1186Q|1573|SSC5D|protein_coding|CODING|ENST00000389623|exon_19_56028591_56030466 0/1:81:91,0,78 . . . 19 56029383 . CC CCTTC CODON_INSERTION SSC5D MODERATE||-/TTC|-1248F|1573|SSC5D|protein_coding|CODING|ENST00000389623|exon_19_56028591_56030466 0/1:61:58,0,185 . . . 19 56056257 rs56258384 G C NON_SYNONYMOUS_CODING AC008735.15.1 MODERATE|MISSENSE|cCg/cGg|P20R|407|AC008735.15.1|protein_coding|CODING|ENST00000420723|exon_19_56056165_56056315 0/1:99:124,0,203 . . . 19 56274116 rs201052090 A G NON_SYNONYMOUS_CODING RFPL4A MODERATE|MISSENSE|Act/Gct|T147A|287|RFPL4A|protein_coding|CODING|ENST00000434937|exon_19_56273964_56274541 . . . 0/1:68:76,0,65 19 56274506 rs147984855 G A NON_SYNONYMOUS_CODING RFPL4A MODERATE|MISSENSE|Gct/Act|A277T|287|RFPL4A|protein_coding|CODING|ENST00000434937|exon_19_56273964_56274541 . 0/1:99:97,0,203 . . 19 56459302 rs77942970 A C NON_SYNONYMOUS_CODING NLRP8 MODERATE|MISSENSE|Att/Ctt|I12L|1048|NLRP8|protein_coding|CODING|ENST00000291971|exon_19_56459198_56459635 . 0/1:99:157,0,231 . . 19 56459458 rs61195059 C T NON_SYNONYMOUS_CODING NLRP8 MODERATE|MISSENSE|Ctc/Ttc|L64F|1048|NLRP8|protein_coding|CODING|ENST00000291971|exon_19_56459198_56459635 . . . 0/1:99:255,0,226 19 56466227 rs7259764 A G NON_SYNONYMOUS_CODING NLRP8 MODERATE|MISSENSE|cAg/cGg|Q268R|1048|NLRP8|protein_coding|CODING|ENST00000291971|exon_19_56465867_56467466 . . . 0/1:99:232,0,255 19 56473560 rs199475840 G A NON_SYNONYMOUS_CODING NLRP8 MODERATE|MISSENSE|Gcg/Acg|A724T|1048|NLRP8|protein_coding|CODING|ENST00000291971|exon_19_56473433_56473603 0/1:99:246,0,255 . . . 19 56549510 rs16986899 T C NON_SYNONYMOUS_CODING NLRP5 MODERATE|MISSENSE|aTg/aCg|M912T|1200|NLRP5|protein_coding|CODING|ENST00000390649|exon_19_56549391_56549561 . 0/1:96:200,0,93 . . 19 56720362 rs184245764 G C NON_SYNONYMOUS_CODING ZSCAN5C MODERATE|MISSENSE|aaG/aaC|K428N|496|ZSCAN5C|protein_coding|CODING|ENST00000376267|exon_19_56719818_56720569 0/1:99:255,0,255 . . . 19 56720362 rs184245764 G C NON_SYNONYMOUS_CODING ZSCAN5C MODERATE|MISSENSE|aaG/aaC|K428N|496|ZSCAN5C|protein_coding|CODING|ENST00000534327|exon_19_56719818_56720821 0/1:99:255,0,255 . . . 19 57050430 rs189847863 C T NON_SYNONYMOUS_CODING ZFP28 MODERATE|MISSENSE|Ctc/Ttc|L15F|868|ZFP28|protein_coding|CODING|ENST00000301318|exon_19_57050317_57050595 0/1:44:77,0,41 . . . 19 57335735 rs77911168 T C NON_SYNONYMOUS_CODING ZIM2 MODERATE|MISSENSE|Atc/Gtc|I97V|1587|ZIM2|protein_coding|CODING|ENST00000559879|exon_19_57335630_57336374 0/1:99:255,0,188 . . . 19 57335735 rs77911168 T C NON_SYNONYMOUS_CODING ZIM2 MODERATE|MISSENSE|Atc/Gtc|I97V|1587|ZIM2|protein_coding|CODING|ENST00000561033|exon_19_57335630_57336109 0/1:99:255,0,188 . . . 19 57335735 rs77911168 T C NON_SYNONYMOUS_CODING ZIM2 MODERATE|MISSENSE|Atc/Gtc|I97V|1588|ZIM2|protein_coding|CODING|ENST00000326441|exon_19_57335630_57336109 0/1:99:255,0,188 . . . 19 57335735 rs77911168 T C NON_SYNONYMOUS_CODING ZIM2 MODERATE|MISSENSE|Atc/Gtc|I97V|1588|ZIM2|protein_coding|CODING|ENST00000423103|exon_19_57335630_57336109 0/1:99:255,0,188 . . . 19 57649900 rs2370134 C T NON_SYNONYMOUS_CODING ZIM3 MODERATE|MISSENSE|Gaa/Aaa|E28K|472|ZIM3|protein_coding|CODING|ENST00000269834|exon_19_57649840_57649966 . 0/1:99:229,0,230 . 1/1:99:255,90,0 19 57867599 rs862708 T C NON_SYNONYMOUS_CODING ZNF304 MODERATE|MISSENSE|cTg/cCg|L121P|659|ZNF304|protein_coding|CODING|ENST00000282286|exon_19_57867398_57871266 . . 0/1:99:255,0,245 . 19 57867599 rs862708 T C NON_SYNONYMOUS_CODING ZNF304 MODERATE|MISSENSE|cTg/cCg|L121P|659|ZNF304|protein_coding|CODING|ENST00000391705|exon_19_57867398_57871266 . . 0/1:99:255,0,245 . 19 57867599 rs862708 T C NON_SYNONYMOUS_CODING ZNF304 MODERATE|MISSENSE|cTg/cCg|L168P|706|ZNF304|protein_coding|CODING|ENST00000443917|exon_19_57867398_57870148 . . 0/1:99:255,0,245 . 19 57909827 rs17856896 G T NON_SYNONYMOUS_CODING ZNF548 MODERATE|MISSENSE|Gca/Tca|A58S|533|ZNF548|protein_coding|CODING|ENST00000366197|exon_19_57909798_57913917 0/1:99:243,0,120 . . . 19 57909827 rs17856896 G T NON_SYNONYMOUS_CODING ZNF548 MODERATE|MISSENSE|Gca/Tca|A70S|545|ZNF548|protein_coding|CODING|ENST00000336128|exon_19_57909798_57913917 0/1:99:243,0,120 . . . 19 58002924 rs145680611 G A NON_SYNONYMOUS_CODING ZNF419 MODERATE|MISSENSE|cGc/cAc|R33H|428|ZNF419|protein_coding|CODING|ENST00000284020|exon_19_58002839_58002970 . 0/1:99:205,0,106 . . 19 58002924 rs145680611 G A NON_SYNONYMOUS_CODING ZNF419 MODERATE|MISSENSE|cGc/cAc|R40H|112|ZNF419|protein_coding|CODING|ENST00000523312|exon_19_58002839_58003146 . 0/1:99:205,0,106 . . 19 58002924 rs145680611 G A NON_SYNONYMOUS_CODING ZNF419 MODERATE|MISSENSE|cGc/cAc|R40H|464|ZNF419|protein_coding|CODING|ENST00000415379|exon_19_58002839_58002965 . 0/1:99:205,0,106 . . 19 58002924 rs145680611 G A NON_SYNONYMOUS_CODING ZNF419 MODERATE|MISSENSE|cGc/cAc|R40H|497|ZNF419|protein_coding|CODING|ENST00000442920|exon_19_58002839_58002965 . 0/1:99:205,0,106 . . 19 58002924 rs145680611 G A NON_SYNONYMOUS_CODING ZNF419 MODERATE|MISSENSE|cGc/cAc|R41H|120|ZNF419|protein_coding|CODING|ENST00000521754|exon_19_58002836_58002965 . 0/1:99:205,0,106 . . 19 58002924 rs145680611 G A NON_SYNONYMOUS_CODING ZNF419 MODERATE|MISSENSE|cGc/cAc|R41H|134|ZNF419|protein_coding|CODING|ENST00000524372|exon_19_58002836_58002965 . 0/1:99:205,0,106 . . 19 58002924 rs145680611 G A NON_SYNONYMOUS_CODING ZNF419 MODERATE|MISSENSE|cGc/cAc|R41H|442|ZNF419|protein_coding|CODING|ENST00000354197|exon_19_58002836_58002965 . 0/1:99:205,0,106 . . 19 58002924 rs145680611 G A NON_SYNONYMOUS_CODING ZNF419 MODERATE|MISSENSE|cGc/cAc|R41H|498|ZNF419|protein_coding|CODING|ENST00000426954|exon_19_58002836_58002965 . 0/1:99:205,0,106 . . 19 58002924 rs145680611 G A NON_SYNONYMOUS_CODING ZNF419 MODERATE|MISSENSE|cGc/cAc|R41H|97|ZNF419|protein_coding|CODING|ENST00000520540|exon_19_58002836_58002965 . 0/1:99:205,0,106 . . 19 58002924 rs145680611 G A NON_SYNONYMOUS_CODING ZNF419 MODERATE|MISSENSE|cGc/cAc|R53H|157|ZNF419|protein_coding|CODING|ENST00000427558|exon_19_58002839_58002965 . 0/1:99:205,0,106 . . 19 58002924 rs145680611 G A NON_SYNONYMOUS_CODING ZNF419 MODERATE|MISSENSE|cGc/cAc|R53H|172|ZNF419|protein_coding|CODING|ENST00000521137|exon_19_58002839_58002965 . 0/1:99:205,0,106 . . 19 58002924 rs145680611 G A NON_SYNONYMOUS_CODING ZNF419 MODERATE|MISSENSE|cGc/cAc|R53H|510|ZNF419|protein_coding|CODING|ENST00000221735|exon_19_58002839_58002965 . 0/1:99:205,0,106 . . 19 58002924 rs145680611 G A NON_SYNONYMOUS_CODING ZNF419 MODERATE|MISSENSE|cGc/cAc|R53H|86|ZNF419|protein_coding|CODING|ENST00000523138|exon_19_58002839_58003027 . 0/1:99:205,0,106 . . 19 58002924 rs145680611 G A NON_SYNONYMOUS_CODING ZNF419 MODERATE|MISSENSE|cGc/cAc|R54H|110|ZNF419|protein_coding|CODING|ENST00000518999|exon_19_58002836_58002965 . 0/1:99:205,0,106 . . 19 58002924 rs145680611 G A NON_SYNONYMOUS_CODING ZNF419 MODERATE|MISSENSE|cGc/cAc|R54H|113|ZNF419|protein_coding|CODING|ENST00000523882|exon_19_58002836_58003107 . 0/1:99:205,0,106 . . 19 58002924 rs145680611 G A NON_SYNONYMOUS_CODING ZNF419 MODERATE|MISSENSE|cGc/cAc|R54H|443|ZNF419|protein_coding|CODING|ENST00000517598|exon_19_58002836_58002965 . 0/1:99:205,0,106 . . 19 58002924 rs145680611 G A NON_SYNONYMOUS_CODING ZNF419 MODERATE|MISSENSE|cGc/cAc|R54H|478|ZNF419|protein_coding|CODING|ENST00000347466|exon_19_58002836_58002965 . 0/1:99:205,0,106 . . 19 58002924 rs145680611 G A NON_SYNONYMOUS_CODING ZNF419 MODERATE|MISSENSE|cGc/cAc|R54H|511|ZNF419|protein_coding|CODING|ENST00000424930|exon_19_58002836_58002965 . 0/1:99:205,0,106 . . 19 58004563 rs7259303 G A NON_SYNONYMOUS_CODING ZNF419 MODERATE|MISSENSE|gGt/gAt|G167D|464|ZNF419|protein_coding|CODING|ENST00000415379|exon_19_58004224_58006048 0/1:99:255,0,251 0/1:99:254,0,255 . . 19 58004563 rs7259303 G A NON_SYNONYMOUS_CODING ZNF419 MODERATE|MISSENSE|gGt/gAt|G181D|478|ZNF419|protein_coding|CODING|ENST00000347466|exon_19_58004224_58006032 0/1:99:255,0,251 0/1:99:254,0,255 . . 19 58004563 rs7259303 G A NON_SYNONYMOUS_CODING ZNF419 MODERATE|MISSENSE|gGt/gAt|G200D|497|ZNF419|protein_coding|CODING|ENST00000442920|exon_19_58004224_58005588 0/1:99:255,0,251 0/1:99:254,0,255 . . 19 58004563 rs7259303 G A NON_SYNONYMOUS_CODING ZNF419 MODERATE|MISSENSE|gGt/gAt|G201D|442|ZNF419|protein_coding|CODING|ENST00000354197|exon_19_58004224_58005151 0/1:99:255,0,251 0/1:99:254,0,255 . . 19 58004563 rs7259303 G A NON_SYNONYMOUS_CODING ZNF419 MODERATE|MISSENSE|gGt/gAt|G201D|498|ZNF419|protein_coding|CODING|ENST00000426954|exon_19_58004224_58006048 0/1:99:255,0,251 0/1:99:254,0,255 . . 19 58004563 rs7259303 G A NON_SYNONYMOUS_CODING ZNF419 MODERATE|MISSENSE|gGt/gAt|G213D|510|ZNF419|protein_coding|CODING|ENST00000221735|exon_19_58004224_58006048 0/1:99:255,0,251 0/1:99:254,0,255 . . 19 58004563 rs7259303 G A NON_SYNONYMOUS_CODING ZNF419 MODERATE|MISSENSE|gGt/gAt|G214D|443|ZNF419|protein_coding|CODING|ENST00000517598|exon_19_58004224_58005255 0/1:99:255,0,251 0/1:99:254,0,255 . . 19 58004563 rs7259303 G A NON_SYNONYMOUS_CODING ZNF419 MODERATE|MISSENSE|gGt/gAt|G214D|511|ZNF419|protein_coding|CODING|ENST00000424930|exon_19_58004224_58006048 0/1:99:255,0,251 0/1:99:254,0,255 . . 19 58004563 rs7259303 G A NON_SYNONYMOUS_CODING ZNF419 MODERATE|MISSENSE|gGt/gAt|G216D|428|ZNF419|protein_coding|CODING|ENST00000284020|exon_19_58004278_58004600 0/1:99:255,0,251 0/1:99:254,0,255 . . 19 58213773 rs2188736 G C NON_SYNONYMOUS_CODING ZNF154 MODERATE|MISSENSE|Ctt/Gtt|L182V|437|ZNF154|protein_coding|CODING|ENST00000426889|exon_19_58211811_58214156 0/1:99:241,0,255 0/1:99:255,0,255 . . 19 58213773 rs2188736 G C NON_SYNONYMOUS_CODING ZNF154 MODERATE|MISSENSE|Ctt/Gtt|L182V|437|ZNF154|protein_coding|CODING|ENST00000512439|exon_19_58212606_58214156 0/1:99:241,0,255 0/1:99:255,0,255 . . 19 58213952 rs2074078 C A NON_SYNONYMOUS_CODING ZNF154 MODERATE|MISSENSE|gGt/gTt|G122V|437|ZNF154|protein_coding|CODING|ENST00000426889|exon_19_58211811_58214156 0/1:99:145,0,255 . . 0/1:99:226,0,255 19 58213952 rs2074078 C A NON_SYNONYMOUS_CODING ZNF154 MODERATE|MISSENSE|gGt/gTt|G122V|437|ZNF154|protein_coding|CODING|ENST00000512439|exon_19_58212606_58214156 0/1:99:145,0,255 . . 0/1:99:226,0,255 19 58233008 rs3746207 G A NON_SYNONYMOUS_CODING ZNF671 MODERATE|MISSENSE|gCa/gTa|A149V|534|ZNF671|protein_coding|CODING|ENST00000317398|exon_19_58231120_58233065 0/1:99:251,0,255 1/1:99:255,90,0 . . 19 58233008 rs3746207 G A NON_SYNONYMOUS_CODING ZNF671 MODERATE|MISSENSE|gCa/gTa|A51V|436|ZNF671|protein_coding|CODING|ENST00000335820|exon_19_58231489_58233065 0/1:99:251,0,255 1/1:99:255,90,0 . . 19 58355699 rs8103104 T C NON_SYNONYMOUS_CODING ZNF587 MODERATE|MISSENSE|Tgt/Cgt|C400R|402|ZNF587|protein_coding|CODING|ENST00000442832|exon_19_58355624_58355823 1/1:99:255,81,0 1/1:99:255,123,0 . . 19 58370657 rs200055283 C A NON_SYNONYMOUS_CODING ZNF587 MODERATE|MISSENSE|Cag/Aag|Q250K|532|ZNF587|protein_coding|CODING|ENST00000376209|exon_19_58369944_58372184 1/1:57:88,30,0 1/1:87:121,45,0 . . 19 58370657 rs200055283 C A NON_SYNONYMOUS_CODING ZNF587 MODERATE|MISSENSE|Cag/Aag|Q250K|532|ZNF587|protein_coding|CODING|ENST00000419854|exon_19_58369944_58375409 1/1:57:88,30,0 1/1:87:121,45,0 . . 19 58370657 rs200055283 C A NON_SYNONYMOUS_CODING ZNF587 MODERATE|MISSENSE|Cag/Aag|Q292K|574|ZNF587|protein_coding|CODING|ENST00000423137|exon_19_58369944_58371578 1/1:57:88,30,0 1/1:87:121,45,0 . . 19 58370657 rs200055283 C A NON_SYNONYMOUS_CODING ZNF587 MODERATE|MISSENSE|Cag/Aag|Q293K|575|ZNF587|protein_coding|CODING|ENST00000339656|exon_19_58369944_58376485 1/1:57:88,30,0 1/1:87:121,45,0 . . 19 58370657 rs200055283 C A NON_SYNONYMOUS_CODING ZNF587 MODERATE|MISSENSE|Cag/Aag|Q293K|619|ZNF587|protein_coding|CODING|ENST00000540851|exon_19_58369944_58371478 1/1:57:88,30,0 1/1:87:121,45,0 . . 19 58370727 rs77825740 T G NON_SYNONYMOUS_CODING ZNF587 MODERATE|MISSENSE|cTt/cGt|L273R|532|ZNF587|protein_coding|CODING|ENST00000376209|exon_19_58369944_58372184 1/1:87:255,45,0 1/1:99:255,53,0 . . 19 58370727 rs77825740 T G NON_SYNONYMOUS_CODING ZNF587 MODERATE|MISSENSE|cTt/cGt|L273R|532|ZNF587|protein_coding|CODING|ENST00000419854|exon_19_58369944_58375409 1/1:87:255,45,0 1/1:99:255,53,0 . . 19 58370727 rs77825740 T G NON_SYNONYMOUS_CODING ZNF587 MODERATE|MISSENSE|cTt/cGt|L315R|574|ZNF587|protein_coding|CODING|ENST00000423137|exon_19_58369944_58371578 1/1:87:255,45,0 1/1:99:255,53,0 . . 19 58370727 rs77825740 T G NON_SYNONYMOUS_CODING ZNF587 MODERATE|MISSENSE|cTt/cGt|L316R|575|ZNF587|protein_coding|CODING|ENST00000339656|exon_19_58369944_58376485 1/1:87:255,45,0 1/1:99:255,53,0 . . 19 58370727 rs77825740 T G NON_SYNONYMOUS_CODING ZNF587 MODERATE|MISSENSE|cTt/cGt|L316R|619|ZNF587|protein_coding|CODING|ENST00000540851|exon_19_58369944_58371478 1/1:87:255,45,0 1/1:99:255,53,0 . . 19 58371604 . G C NON_SYNONYMOUS_CODING ZNF587 MODERATE|MISSENSE|tGt/tCt|C608S|619|ZNF587|protein_coding|CODING|ENST00000540851|exon_19_58371480_58372303 . . 0/1:99:160,0,255 . 19 58513878 rs113843235 A G NON_SYNONYMOUS_CODING CTD-2368P22.1.1 MODERATE|MISSENSE|Agc/Ggc|S134G|384|CTD-2368P22.1.1|protein_coding|CODING|ENST00000550135|exon_19_58513429_58514414 0/1:99:223,0,237 . . . 19 58514014 . G A NON_SYNONYMOUS_CODING CTD-2368P22.1.1 MODERATE|MISSENSE|cGg/cAg|R179Q|384|CTD-2368P22.1.1|protein_coding|CODING|ENST00000550135|exon_19_58513429_58514414 0/1:99:171,0,224 . . . 19 58791115 . G A NON_SYNONYMOUS_CODING ZNF8 MODERATE|MISSENSE|Ggc/Agc|G153S|172|ZNF8|protein_coding|CODING|ENST00000438500|exon_19_58790966_58791849 . . 0/1:99:255,0,197 . 19 58965660 rs12611254 A G NON_SYNONYMOUS_CODING ZNF324B MODERATE|MISSENSE|Agt/Ggt|S63G|544|ZNF324B|protein_coding|CODING|ENST00000336614|exon_19_58965595_58965711 0/1:99:209,0,188 . . . 19 58965660 rs12611254 A G NON_SYNONYMOUS_CODING ZNF324B MODERATE|MISSENSE|Agt/Ggt|S63G|544|ZNF324B|protein_coding|CODING|ENST00000545523|exon_19_58965595_58965711 0/1:99:209,0,188 . . . 19 58982044 rs28444973 C T NON_SYNONYMOUS_CODING ZNF324 MODERATE|MISSENSE|cCt/cTt|P52L|533|ZNF324|protein_coding|CODING|ENST00000539101|exon_19_58981890_58983383 . 0/1:78:75,0,255 . . 19 58991638 rs36095067 C T NON_SYNONYMOUS_CODING ZNF446 MODERATE|MISSENSE|Cct/Tct|P197S|347|ZNF446|protein_coding|CODING|ENST00000391694|exon_19_58991543_58992591 . . 0/1:99:219,0,220 . 19 58991638 rs36095067 C T NON_SYNONYMOUS_CODING ZNF446 MODERATE|MISSENSE|Cct/Tct|P300S|422|ZNF446|protein_coding|CODING|ENST00000540481|exon_19_58991543_58991986 . . 0/1:99:219,0,220 . 19 58991638 rs36095067 C T NON_SYNONYMOUS_CODING ZNF446 MODERATE|MISSENSE|Cct/Tct|P300S|450|ZNF446|protein_coding|CODING|ENST00000335841|exon_19_58991543_58992591 . . 0/1:99:219,0,220 . 1 914839 rs34903276 C T NON_SYNONYMOUS_CODING C1orf170 MODERATE|MISSENSE|cGg/cAg|R410Q|676|C1orf170|protein_coding|CODING|ENST00000341290|exon_1_914261_916037 . 0/1:99:194,0,167 . . 1 914839 rs34903276 C T NON_SYNONYMOUS_CODING C1orf170 MODERATE|MISSENSE|cGg/cAg|R430Q|696|C1orf170|protein_coding|CODING|ENST00000433179|exon_1_914261_916037 . 0/1:99:194,0,167 . . 1 980771 . G A NON_SYNONYMOUS_CODING AGRN MODERATE|MISSENSE|Ggc/Agc|G802S|2045|AGRN|protein_coding|CODING|ENST00000379370|exon_1_980739_980903 . 0/1:99:152,0,190 . . 1 982722 rs142416636 A G NON_SYNONYMOUS_CODING AGRN MODERATE|MISSENSE|cAg/cGg|Q1135R|2045|AGRN|protein_coding|CODING|ENST00000379370|exon_1_982707_982834 0/1:99:221,0,170 . . . 1 1116231 rs13374146 T C NON_SYNONYMOUS_CODING TTLL10 MODERATE|MISSENSE|gTc/gCc|V176A|404|TTLL10|protein_coding|CODING|ENST00000379288|exon_1_1116111_1116240 . . . 0/1:53:86,0,50 1 1116231 rs13374146 T C NON_SYNONYMOUS_CODING TTLL10 MODERATE|MISSENSE|gTc/gCc|V249A|673|TTLL10|protein_coding|CODING|ENST00000379289|exon_1_1116111_1116240 . . . 0/1:53:86,0,50 1 1116231 rs13374146 T C NON_SYNONYMOUS_CODING TTLL10 MODERATE|MISSENSE|gTc/gCc|V249A|673|TTLL10|protein_coding|CODING|ENST00000379290|exon_1_1116111_1116240 . . . 0/1:53:86,0,50 1 1120431 rs1320571 G A NON_SYNONYMOUS_CODING TTLL10 MODERATE|MISSENSE|aGt/aAt|S375N|404|TTLL10|protein_coding|CODING|ENST00000379288|exon_1_1120349_1121244 . . 0/1:99:255,0,173 0/1:99:141,0,170 1 1120431 rs1320571 G A NON_SYNONYMOUS_CODING TTLL10 MODERATE|MISSENSE|aGt/aAt|S448N|673|TTLL10|protein_coding|CODING|ENST00000379289|exon_1_1120349_1120489 . . 0/1:99:255,0,173 0/1:99:141,0,170 1 1120431 rs1320571 G A NON_SYNONYMOUS_CODING TTLL10 MODERATE|MISSENSE|aGt/aAt|S448N|673|TTLL10|protein_coding|CODING|ENST00000379290|exon_1_1120349_1120489 . . 0/1:99:255,0,173 0/1:99:141,0,170 1 1149480 rs35304565 G A NON_SYNONYMOUS_CODING TNFRSF4 MODERATE|MISSENSE|Cgc/Tgc|R10C|277|TNFRSF4|protein_coding|CODING|ENST00000379236|exon_1_1149363_1149512 . . 0/1:99:215,0,106 . 1 1163884 . C T NON_SYNONYMOUS_CODING SDF4 MODERATE|MISSENSE|cGg/cAg|R97Q|202|SDF4|protein_coding|CODING|ENST00000545427|exon_1_1163848_1164326 . 0/1:99:144,0,195 . . 1 1163884 . C T NON_SYNONYMOUS_CODING SDF4 MODERATE|MISSENSE|cGg/cAg|R97Q|348|SDF4|protein_coding|CODING|ENST00000263741|exon_1_1163848_1164326 . 0/1:99:144,0,195 . . 1 1163884 . C T NON_SYNONYMOUS_CODING SDF4 MODERATE|MISSENSE|cGg/cAg|R97Q|362|SDF4|protein_coding|CODING|ENST00000360001|exon_1_1163848_1164326 . 0/1:99:144,0,195 . . 1 1418034 rs2862158 A G NON_SYNONYMOUS_CODING ATAD3B MODERATE|MISSENSE|Agg/Ggg|R96G|116|ATAD3B|protein_coding|CODING|ENST00000378736|exon_1_1417925_1418042 . 0/1:99:209,0,212 . . 1 1418034 rs2862158 A G NON_SYNONYMOUS_CODING ATAD3B MODERATE|MISSENSE|Agg/Ggg|R96G|117|ATAD3B|protein_coding|CODING|ENST00000378741|exon_1_1417925_1418042 . 0/1:99:209,0,212 . . 1 1425637 . A T NON_SYNONYMOUS_CODING ATAD3B MODERATE|MISSENSE|aaA/aaT|K446N|648|ATAD3B|protein_coding|CODING|ENST00000308647|exon_1_1425637_1425804 0/1:99:251,0,200 . . . 1 1425637 . A T NON_SYNONYMOUS_CODING ATAD3B MODERATE|MISSENSE|agA/agT|R249S|482|ATAD3B|protein_coding|CODING|ENST00000378737|exon_1_1425634_1425804 0/1:99:251,0,200 . . . 1 1447692 rs2274435 G A NON_SYNONYMOUS_CODING ATAD3A MODERATE|MISSENSE|gGc/gAc|G15D|586|ATAD3A|protein_coding|CODING|ENST00000378756|exon_1_1447531_1447853 0/1:43:68,0,40 . . . 1 1447692 rs2274435 G A NON_SYNONYMOUS_CODING ATAD3A MODERATE|MISSENSE|gGc/gAc|G15D|634|ATAD3A|protein_coding|CODING|ENST00000378755|exon_1_1447555_1447853 0/1:43:68,0,40 . . . 1 1452551 rs1619925 G A NON_SYNONYMOUS_CODING ATAD3A MODERATE|MISSENSE|cGg/cAg|R2Q|101|ATAD3A|protein_coding|CODING|ENST00000439513|exon_1_1452450_1452792 0/1:60:57,0,194 . . . 1 1452551 rs1619925 G A NON_SYNONYMOUS_CODING ATAD3A MODERATE|MISSENSE|cGg/cAg|R96Q|634|ATAD3A|protein_coding|CODING|ENST00000378755|exon_1_1452547_1452792 0/1:60:57,0,194 . . . 1 1455533 rs141500603 G A NON_SYNONYMOUS_CODING ATAD3A MODERATE|MISSENSE|cGg/cAg|R176Q|586|ATAD3A|protein_coding|CODING|ENST00000378756|exon_1_1455521_1455686 . . . 0/1:99:182,0,209 1 1455533 rs141500603 G A NON_SYNONYMOUS_CODING ATAD3A MODERATE|MISSENSE|cGg/cAg|R224Q|634|ATAD3A|protein_coding|CODING|ENST00000378755|exon_1_1455521_1455686 . . . 0/1:99:182,0,209 1 1455533 rs141500603 G A NON_SYNONYMOUS_CODING ATAD3A MODERATE|MISSENSE|cGg/cAg|R58Q|143|ATAD3A|protein_coding|CODING|ENST00000429957|exon_1_1455521_1455686 . . . 0/1:99:182,0,209 1 1455533 rs141500603 G A NON_SYNONYMOUS_CODING ATAD3A MODERATE|MISSENSE|cGg/cAg|R97Q|507|ATAD3A|protein_coding|CODING|ENST00000536055|exon_1_1455521_1455686 . . . 0/1:99:182,0,209 1 1599899 rs200570843 T C NON_SYNONYMOUS_CODING SLC35E2B MODERATE|MISSENSE|Atc/Gtc|I283V|405|SLC35E2B|protein_coding|CODING|ENST00000234800|exon_1_1599766_1599911 . . 0/1:99:140,0,223 . 1 1599899 rs200570843 T C NON_SYNONYMOUS_CODING SLC35E2B MODERATE|MISSENSE|Atc/Gtc|I283V|405|SLC35E2B|protein_coding|CODING|ENST00000378662|exon_1_1599766_1599911 . . 0/1:99:140,0,223 . 1 1638925 rs200982240 C T NON_SYNONYMOUS_CODING CDK11A MODERATE|MISSENSE|Gac/Aac|D356N|746|CDK11A|protein_coding|CODING|ENST00000356200|exon_1_1638848_1639023 1/1:7:72,4,0 . . . 1 1638925 rs200982240 C T NON_SYNONYMOUS_CODING CDK11A MODERATE|MISSENSE|Gac/Aac|D356N|746|CDK11A|protein_coding|CODING|ENST00000378630|exon_1_1638848_1639023 1/1:7:72,4,0 . . . 1 1638925 rs200982240 C T NON_SYNONYMOUS_CODING CDK11A MODERATE|MISSENSE|Gac/Aac|D356N|746|CDK11A|protein_coding|CODING|ENST00000378638|exon_1_1638848_1639023 1/1:7:72,4,0 . . . 1 1638925 rs200982240 C T NON_SYNONYMOUS_CODING CDK11A MODERATE|MISSENSE|Gac/Aac|D380N|770|CDK11A|protein_coding|CODING|ENST00000358779|exon_1_1638848_1639023 1/1:7:72,4,0 . . . 1 1638925 rs200982240 C T NON_SYNONYMOUS_CODING CDK11A MODERATE|MISSENSE|Gac/Aac|D389N|779|CDK11A|protein_coding|CODING|ENST00000357760|exon_1_1638848_1639023 1/1:7:72,4,0 . . . 1 1638925 rs200982240 C T NON_SYNONYMOUS_CODING CDK11A MODERATE|MISSENSE|Gac/Aac|D390N|780|CDK11A|protein_coding|CODING|ENST00000404249|exon_1_1638848_1639023 1/1:7:72,4,0 . . . 1 1638925 rs200982240 C T NON_SYNONYMOUS_CODING CDK11A MODERATE|MISSENSE|Gac/Aac|D393N|783|CDK11A|protein_coding|CODING|ENST00000378633|exon_1_1638848_1639023 1/1:7:72,4,0 . . . 1 1847979 rs28581776 T C NON_SYNONYMOUS_CODING CALML6 MODERATE|MISSENSE|Tgg/Cgg|W43R|164|CALML6|protein_coding|CODING|ENST00000378604|exon_1_1847880_1848054 0/1:99:194,0,190 . . . 1 1847979 rs28581776 T C NON_SYNONYMOUS_CODING CALML6 MODERATE|MISSENSE|Tgg/Cgg|W60R|181|CALML6|protein_coding|CODING|ENST00000307786|exon_1_1847880_1848054 0/1:99:194,0,190 . . . 1 1849530 rs4459050 T C NON_SYNONYMOUS_CODING TMEM52 MODERATE|MISSENSE|Atg/Gtg|M126V|194|TMEM52|protein_coding|CODING|ENST00000378602|exon_1_1849029_1849601 0/1:99:192,0,120 . . . 1 1849530 rs4459050 T C NON_SYNONYMOUS_CODING TMEM52 MODERATE|MISSENSE|Atg/Gtg|M141V|209|TMEM52|protein_coding|CODING|ENST00000310991|exon_1_1849030_1849601 0/1:99:192,0,120 . . . 1 1854546 rs28633659 C T NON_SYNONYMOUS_CODING C1orf222 MODERATE|MISSENSE|Gag/Aag|E794K|867|C1orf222|protein_coding|CODING|ENST00000493964|exon_1_1854424_1854554 0/1:99:104,0,229 . . . 1 1859131 rs4648734 C T NON_SYNONYMOUS_CODING C1orf222 MODERATE|MISSENSE|Gtt/Att|V431I|867|C1orf222|protein_coding|CODING|ENST00000493964|exon_1_1859046_1859185 0/1:99:119,0,255 . . . 1 1859176 rs45489198 T C NON_SYNONYMOUS_CODING C1orf222 MODERATE|MISSENSE|Aat/Gat|N416D|867|C1orf222|protein_coding|CODING|ENST00000493964|exon_1_1859046_1859185 0/1:99:147,0,223 . . . 1 1888193 rs3820011 C A NON_SYNONYMOUS_CODING C1orf222 MODERATE|MISSENSE|Ggc/Tgc|G628C|762|C1orf222|protein_coding|CODING|ENST00000270720|exon_1_1888059_1888223 0/1:99:221,0,236 . . . 1 1888193 rs3820011 C A NON_SYNONYMOUS_CODING C1orf222 MODERATE|MISSENSE|Ggc/Tgc|G75C|164|C1orf222|protein_coding|CODING|ENST00000461752|exon_1_1888059_1888223 0/1:99:221,0,236 . . . 1 1900106 . TCT TCTCCT CODON_INSERTION C1orf222 MODERATE||-/AGG|-404R|762|C1orf222|protein_coding|CODING|ENST00000270720|exon_1_1900074_1900272 0/1:99:255,0,255 . . . 1 2426313 rs79885852 G A NON_SYNONYMOUS_CODING PLCH2 MODERATE|MISSENSE|Gtg/Atg|V348M|1168|PLCH2|protein_coding|CODING|ENST00000278878|exon_1_2426295_2426387 . . 0/1:99:255,0,254 . 1 2426313 rs79885852 G A NON_SYNONYMOUS_CODING PLCH2 MODERATE|MISSENSE|Gtg/Atg|V407M|1058|PLCH2|protein_coding|CODING|ENST00000343889|exon_1_2426295_2426387 . . 0/1:99:255,0,254 . 1 2426313 rs79885852 G A NON_SYNONYMOUS_CODING PLCH2 MODERATE|MISSENSE|Gtg/Atg|V533M|1129|PLCH2|protein_coding|CODING|ENST00000449969|exon_1_2426295_2426387 . . 0/1:99:255,0,254 . 1 2426313 rs79885852 G A NON_SYNONYMOUS_CODING PLCH2 MODERATE|MISSENSE|Gtg/Atg|V560M|1380|PLCH2|protein_coding|CODING|ENST00000378488|exon_1_2426295_2426387 . . 0/1:99:255,0,254 . 1 2426313 rs79885852 G A NON_SYNONYMOUS_CODING PLCH2 MODERATE|MISSENSE|Gtg/Atg|V560M|1416|PLCH2|protein_coding|CODING|ENST00000378486|exon_1_2426295_2426387 . . 0/1:99:255,0,254 . 1 2434464 rs140865768 C T NON_SYNONYMOUS_CODING PLCH2 MODERATE|MISSENSE|gCt/gTt|A1039V|1058|PLCH2|protein_coding|CODING|ENST00000343889|exon_1_2433551_2436969 0/1:83:80,0,146 . . . 1 2434464 rs140865768 C T NON_SYNONYMOUS_CODING PLCH2 MODERATE|MISSENSE|gCt/gTt|A478V|497|PLCH2|protein_coding|CODING|ENST00000378483|exon_1_2433551_2436969 0/1:83:80,0,146 . . . 1 2434464 rs140865768 C T NON_SYNONYMOUS_CODING PLCH2 MODERATE|MISSENSE|gCt/gTt|A480V|499|PLCH2|protein_coding|CODING|ENST00000288766|exon_1_2433551_2434525 0/1:83:80,0,146 . . . 1 2435738 rs114371513 G A NON_SYNONYMOUS_CODING PLCH2 MODERATE|MISSENSE|Gct/Act|A1077T|1380|PLCH2|protein_coding|CODING|ENST00000378488|exon_1_2435361_2436964 . . . 1/1:12:156,7,0 1 2435738 rs114371513 G A NON_SYNONYMOUS_CODING PLCH2 MODERATE|MISSENSE|Gct/Act|A1113T|1416|PLCH2|protein_coding|CODING|ENST00000378486|exon_1_2435361_2436964 . . . 1/1:12:156,7,0 1 2435738 rs114371513 G A NON_SYNONYMOUS_CODING PLCH2 MODERATE|MISSENSE|Gct/Act|A865T|1168|PLCH2|protein_coding|CODING|ENST00000278878|exon_1_2435361_2436964 . . . 1/1:12:156,7,0 1 2436303 rs79405490 A C NON_SYNONYMOUS_CODING PLCH2 MODERATE|MISSENSE|gAg/gCg|E1053A|1168|PLCH2|protein_coding|CODING|ENST00000278878|exon_1_2435361_2436964 . . . 0/1:99:144,0,146 1 2436303 rs79405490 A C NON_SYNONYMOUS_CODING PLCH2 MODERATE|MISSENSE|gAg/gCg|E1265A|1380|PLCH2|protein_coding|CODING|ENST00000378488|exon_1_2435361_2436964 . . . 0/1:99:144,0,146 1 2436303 rs79405490 A C NON_SYNONYMOUS_CODING PLCH2 MODERATE|MISSENSE|gAg/gCg|E1301A|1416|PLCH2|protein_coding|CODING|ENST00000378486|exon_1_2435361_2436964 . . . 0/1:99:144,0,146 1 3328659 rs2493292 C T NON_SYNONYMOUS_CODING PRDM16 MODERATE|MISSENSE|cCt/cTt|P442L|1084|PRDM16|protein_coding|CODING|ENST00000509860|exon_1_3327948_3329364 . 0/1:99:172,0,161 . . 1 3328659 rs2493292 C T NON_SYNONYMOUS_CODING PRDM16 MODERATE|MISSENSE|cCt/cTt|P449L|1092|PRDM16|protein_coding|CODING|ENST00000408992|exon_1_3327948_3329364 . 0/1:99:172,0,161 . . 1 3328659 rs2493292 C T NON_SYNONYMOUS_CODING PRDM16 MODERATE|MISSENSE|cCt/cTt|P449L|1092|PRDM16|protein_coding|CODING|ENST00000512462|exon_1_3327948_3329364 . 0/1:99:172,0,161 . . 1 3328659 rs2493292 C T NON_SYNONYMOUS_CODING PRDM16 MODERATE|MISSENSE|cCt/cTt|P633L|1256|PRDM16|protein_coding|CODING|ENST00000442529|exon_1_3327948_3329364 . 0/1:99:172,0,161 . . 1 3328659 rs2493292 C T NON_SYNONYMOUS_CODING PRDM16 MODERATE|MISSENSE|cCt/cTt|P633L|1257|PRDM16|protein_coding|CODING|ENST00000378391|exon_1_3327948_3329364 . 0/1:99:172,0,161 . . 1 3328659 rs2493292 C T NON_SYNONYMOUS_CODING PRDM16 MODERATE|MISSENSE|cCt/cTt|P633L|1275|PRDM16|protein_coding|CODING|ENST00000441472|exon_1_3327948_3329364 . 0/1:99:172,0,161 . . 1 3328659 rs2493292 C T NON_SYNONYMOUS_CODING PRDM16 MODERATE|MISSENSE|cCt/cTt|P633L|1276|PRDM16|protein_coding|CODING|ENST00000270722|exon_1_3327948_3329364 . 0/1:99:172,0,161 . . 1 3328659 rs2493292 C T NON_SYNONYMOUS_CODING PRDM16 MODERATE|MISSENSE|cCt/cTt|P634L|1177|PRDM16|protein_coding|CODING|ENST00000514189|exon_1_3327948_3329364 . 0/1:99:172,0,161 . . 1 3328659 rs2493292 C T NON_SYNONYMOUS_CODING PRDM16 MODERATE|MISSENSE|cCt/cTt|P634L|1178|PRDM16|protein_coding|CODING|ENST00000511072|exon_1_3327948_3329364 . 0/1:99:172,0,161 . . 1 3328659 rs2493292 C T NON_SYNONYMOUS_CODING PRDM16 MODERATE|MISSENSE|cCt/cTt|P634L|1276|PRDM16|protein_coding|CODING|ENST00000378398|exon_1_3327948_3329364 . 0/1:99:172,0,161 . . 1 3417545 rs41303857 A G NON_SYNONYMOUS_CODING MEGF6 MODERATE|MISSENSE|Ttt/Ctt|F749L|1229|MEGF6|protein_coding|CODING|ENST00000294599|exon_1_3417530_3417658 . . . 0/1:99:212,0,177 1 3417545 rs41303857 A G NON_SYNONYMOUS_CODING MEGF6 MODERATE|MISSENSE|Ttt/Ctt|F854L|1541|MEGF6|protein_coding|CODING|ENST00000356575|exon_1_3417530_3417658 . . . 0/1:99:212,0,177 1 3669172 rs41315312 C T NON_SYNONYMOUS_CODING CCDC27 MODERATE|MISSENSE|Cgc/Tgc|R43C|656|CCDC27|protein_coding|CODING|ENST00000294600|exon_1_3668962_3669363 0/1:99:184,0,214 . . . 1 3683159 rs144089943 A C NON_SYNONYMOUS_CODING CCDC27 MODERATE|MISSENSE|Aac/Cac|N505H|656|CCDC27|protein_coding|CODING|ENST00000294600|exon_1_3683099_3683176 0/1:99:211,0,249 . . . 1 3697663 rs11547615 C T NON_SYNONYMOUS_CODING LRRC47 MODERATE|MISSENSE|Gtc/Atc|V581I|583|LRRC47|protein_coding|CODING|ENST00000378251|exon_1_3696784_3697900 . . . 0/1:99:176,0,253 1 3786245 rs12738235 G A NON_SYNONYMOUS_CODING DFFB MODERATE|MISSENSE|aGg/aAg|R132K|274|DFFB|protein_coding|CODING|ENST00000339350|exon_1_3786169_3786339 . 0/1:99:228,0,210 . . 1 3786245 rs12738235 G A NON_SYNONYMOUS_CODING DFFB MODERATE|MISSENSE|aGg/aAg|R132K|274|DFFB|protein_coding|CODING|ENST00000378206|exon_1_3786169_3786339 . 0/1:99:228,0,210 . . 1 3786245 rs12738235 G A NON_SYNONYMOUS_CODING DFFB MODERATE|MISSENSE|aGg/aAg|R196K|270|DFFB|protein_coding|CODING|ENST00000338895|exon_1_3786169_3786339 . 0/1:99:228,0,210 . . 1 3786245 rs12738235 G A NON_SYNONYMOUS_CODING DFFB MODERATE|MISSENSE|aGg/aAg|R196K|338|DFFB|protein_coding|CODING|ENST00000378209|exon_1_3786169_3786339 . 0/1:99:228,0,210 . . 1 6273206 rs55823245 C T NON_SYNONYMOUS_CODING RNF207 MODERATE|MISSENSE|Cgc/Tgc|R539C|634|RNF207|protein_coding|CODING|ENST00000377939|exon_1_6273126_6273243 . . 0/1:99:206,0,176 . 1 6529182 . TTCCTCCTCCTCCTCCTCCTCCTCCTC TTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CODON_CHANGE_PLUS_CODON_INSERTION PLEKHG5 MODERATE||gaa/gaGAGa|E620ER|912|PLEKHG5|protein_coding|CODING|ENST00000535966|exon_1_6529102_6529301 0/1:99:136,0,153 . . . 1 6529182 . TTCCTCCTCCTCCTCCTCCTCCTCCTC TTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CODON_CHANGE_PLUS_CODON_INSERTION PLEKHG5 MODERATE||gaa/gaGAGa|E714ER|1006|PLEKHG5|protein_coding|CODING|ENST00000340850|exon_1_6529102_6529301 0/1:99:136,0,153 . . . 1 6529182 . TTCCTCCTCCTCCTCCTCCTCCTCCTC TTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CODON_CHANGE_PLUS_CODON_INSERTION PLEKHG5 MODERATE||gaa/gaGAGa|E714ER|1006|PLEKHG5|protein_coding|CODING|ENST00000377728|exon_1_6529102_6529301 0/1:99:136,0,153 . . . 1 6529182 . TTCCTCCTCCTCCTCCTCCTCCTCCTC TTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CODON_CHANGE_PLUS_CODON_INSERTION PLEKHG5 MODERATE||gaa/gaGAGa|E714ER|1006|PLEKHG5|protein_coding|CODING|ENST00000377737|exon_1_6529102_6529301 0/1:99:136,0,153 . . . 1 6529182 . TTCCTCCTCCTCCTCCTCCTCCTCCTC TTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CODON_CHANGE_PLUS_CODON_INSERTION PLEKHG5 MODERATE||gaa/gaGAGa|E714ER|1006|PLEKHG5|protein_coding|CODING|ENST00000400913|exon_1_6529102_6529301 0/1:99:136,0,153 . . . 1 6529182 . TTCCTCCTCCTCCTCCTCCTCCTCCTC TTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CODON_CHANGE_PLUS_CODON_INSERTION PLEKHG5 MODERATE||gaa/gaGAGa|E714ER|930|PLEKHG5|protein_coding|CODING|ENST00000377725|exon_1_6529102_6529301 0/1:99:136,0,153 . . . 1 6529182 . TTCCTCCTCCTCCTCCTCCTCCTCCTC TTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CODON_CHANGE_PLUS_CODON_INSERTION PLEKHG5 MODERATE||gaa/gaGAGa|E714ER|930|PLEKHG5|protein_coding|CODING|ENST00000544978|exon_1_6529102_6529301 0/1:99:136,0,153 . . . 1 6529182 . TTCCTCCTCCTCCTCCTCCTCCTCCTC TTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CODON_CHANGE_PLUS_CODON_INSERTION PLEKHG5 MODERATE||gaa/gaGAGa|E751ER|1043|PLEKHG5|protein_coding|CODING|ENST00000377732|exon_1_6529102_6529301 0/1:99:136,0,153 . . . 1 6529182 . TTCCTCCTCCTCCTCCTCCTCCTCCTC TTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CODON_CHANGE_PLUS_CODON_INSERTION PLEKHG5 MODERATE||gaa/gaGAGa|E770ER|1062|PLEKHG5|protein_coding|CODING|ENST00000400915|exon_1_6529102_6529301 0/1:99:136,0,153 . . . 1 6529182 . TTCCTCCTCCTCCTCCTCCTCCTCCTC TTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CODON_CHANGE_PLUS_CODON_INSERTION PLEKHG5 MODERATE||gaa/gaGAGa|E783ER|1075|PLEKHG5|protein_coding|CODING|ENST00000535355|exon_1_6529102_6529301 0/1:99:136,0,153 . . . 1 6529182 . TTCCTCCTCCTCCTCCTCCTCCTCCTC TTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CODON_CHANGE_PLUS_CODON_INSERTION PLEKHG5 MODERATE||gaa/gaGAGa|E791ER|1083|PLEKHG5|protein_coding|CODING|ENST00000377748|exon_1_6529102_6529301 0/1:99:136,0,153 . . . 1 6529182 . TTCCTCCTCCTCCTCCTCCTCCTCCTC TTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CODON_CHANGE_PLUS_CODON_INSERTION PLEKHG5 MODERATE||gaa/gaGAGa|E791ER|852|PLEKHG5|protein_coding|CODING|ENST00000377740|exon_1_6529102_6529301 0/1:99:136,0,153 . . . 1 6529182 . TTCCTCCTCCTCCTCCTCCTCCTCCTC TTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CODON_CHANGE_PLUS_CODON_INSERTION PLEKHG5 MODERATE||gaa/gaGAGa|E793ER|1085|PLEKHG5|protein_coding|CODING|ENST00000537245|exon_1_6529102_6529301 0/1:99:136,0,153 . . . 1 6593429 . T C NON_SYNONYMOUS_CODING NOL9 MODERATE|MISSENSE|tAt/tGt|Y383C|702|NOL9|protein_coding|CODING|ENST00000377705|exon_1_6593340_6593501 0/1:99:255,0,255 . . . 1 6615504 rs199797470 A G NON_SYNONYMOUS_CODING TAS1R1 MODERATE|MISSENSE|cAt/cGt|H24R|480|TAS1R1|protein_coding|CODING|ENST00000328191|exon_1_6615338_6615624 0/1:99:255,0,169 . . . 1 6615504 rs199797470 A G NON_SYNONYMOUS_CODING TAS1R1 MODERATE|MISSENSE|cAt/cGt|H24R|587|TAS1R1|protein_coding|CODING|ENST00000351136|exon_1_6615369_6615624 0/1:99:255,0,169 . . . 1 6615504 rs199797470 A G NON_SYNONYMOUS_CODING TAS1R1 MODERATE|MISSENSE|cAt/cGt|H24R|841|TAS1R1|protein_coding|CODING|ENST00000333172|exon_1_6615241_6615624 0/1:99:255,0,169 . . . 1 6641348 rs72634778 G A NON_SYNONYMOUS_CODING ZBTB48 MODERATE|MISSENSE|Ggc/Agc|G227S|291|ZBTB48|protein_coding|CODING|ENST00000435905|exon_1_6640601_6641359 . 0/1:99:146,0,252 . . 1 6641348 rs72634778 G A NON_SYNONYMOUS_CODING ZBTB48 MODERATE|MISSENSE|Ggc/Agc|G227S|309|ZBTB48|protein_coding|CODING|ENST00000319084|exon_1_6640601_6641359 . 0/1:99:146,0,252 . . 1 6641348 rs72634778 G A NON_SYNONYMOUS_CODING ZBTB48 MODERATE|MISSENSE|Ggc/Agc|G227S|688|ZBTB48|protein_coding|CODING|ENST00000377674|exon_1_6640601_6641359 . 0/1:99:146,0,252 . . 1 6662057 rs2232455 G A NON_SYNONYMOUS_CODING KLHL21 MODERATE|MISSENSE|cCc/cTc|P274L|539|KLHL21|protein_coding|CODING|ENST00000377663|exon_1_6661857_6663061 . . . 0/1:99:137,0,232 1 6662057 rs2232455 G A NON_SYNONYMOUS_CODING KLHL21 MODERATE|MISSENSE|cCc/cTc|P274L|597|KLHL21|protein_coding|CODING|ENST00000377658|exon_1_6661857_6662929 . . . 0/1:99:137,0,232 1 6705874 rs200454 G C NON_SYNONYMOUS_CODING DNAJC11 MODERATE|MISSENSE|aCc/aGc|T200S|469|DNAJC11|protein_coding|CODING|ENST00000377573|exon_1_6705849_6706038 . . 0/1:99:217,0,125 0/1:99:203,0,170 1 6705874 rs200454 G C NON_SYNONYMOUS_CODING DNAJC11 MODERATE|MISSENSE|aCc/aGc|T252S|521|DNAJC11|protein_coding|CODING|ENST00000542246|exon_1_6705849_6706038 . . 0/1:99:217,0,125 0/1:99:203,0,170 1 6705874 rs200454 G C NON_SYNONYMOUS_CODING DNAJC11 MODERATE|MISSENSE|aCc/aGc|T290S|507|DNAJC11|protein_coding|CODING|ENST00000294401|exon_1_6705849_6706038 . . 0/1:99:217,0,125 0/1:99:203,0,170 1 6705874 rs200454 G C NON_SYNONYMOUS_CODING DNAJC11 MODERATE|MISSENSE|aCc/aGc|T290S|559|DNAJC11|protein_coding|CODING|ENST00000377577|exon_1_6705849_6706038 . . 0/1:99:217,0,125 0/1:99:203,0,170 1 6705874 rs200454 G C NON_SYNONYMOUS_CODING DNAJC11 MODERATE|MISSENSE|aCc/aGc|T320S|323|DNAJC11|protein_coding|CODING|ENST00000426784|exon_1_6705860_6706038 . . 0/1:99:217,0,125 0/1:99:203,0,170 1 7887579 rs228697 C G NON_SYNONYMOUS_CODING PER3 MODERATE|MISSENSE|Cct/Gct|P67A|394|PER3|protein_coding|CODING|ENST00000539773|exon_1_7887178_7887875 . . 0/1:99:255,0,172 . 1 7887579 rs228697 C G NON_SYNONYMOUS_CODING PER3 MODERATE|MISSENSE|Cct/Gct|P856A|1201|PER3|protein_coding|CODING|ENST00000361923|exon_1_7887178_7887875 . . 0/1:99:255,0,172 . 1 7887579 rs228697 C G NON_SYNONYMOUS_CODING PER3 MODERATE|MISSENSE|Cct/Gct|P864A|1210|PER3|protein_coding|CODING|ENST00000377532|exon_1_7887178_7887875 . . 0/1:99:255,0,172 . 1 9074753 . G A NON_SYNONYMOUS_CODING SLC2A7 MODERATE|MISSENSE|tCg/tTg|S297L|512|SLC2A7|protein_coding|CODING|ENST00000400906|exon_1_9074740_9074927 . . . 0/1:99:188,0,164 1 9074861 rs12402973 C T NON_SYNONYMOUS_CODING SLC2A7 MODERATE|MISSENSE|cGg/cAg|R261Q|512|SLC2A7|protein_coding|CODING|ENST00000400906|exon_1_9074740_9074927 . . 1/1:87:255,45,0 . 1 9305445 rs34603401 A C NON_SYNONYMOUS_CODING H6PD MODERATE|MISSENSE|gAc/gCc|D151A|791|H6PD|protein_coding|CODING|ENST00000377403|exon_1_9304984_9305620 . . 0/1:99:255,0,255 . 1 9324213 rs17368528 C T NON_SYNONYMOUS_CODING H6PD MODERATE|MISSENSE|cCg/cTg|P554L|791|H6PD|protein_coding|CODING|ENST00000377403|exon_1_9323568_9331396 0/1:99:230,0,160 . 0/1:99:248,0,221 0/1:99:133,0,172 1 9778801 . C T NON_SYNONYMOUS_CODING PIK3CD MODERATE|MISSENSE|aCg/aTg|T24M|319|PIK3CD|protein_coding|CODING|ENST00000543390|exon_1_9778752_9778973 . . . 0/1:99:191,0,210 1 9778801 . C T NON_SYNONYMOUS_CODING PIK3CD MODERATE|MISSENSE|aCg/aTg|T322M|1068|PIK3CD|protein_coding|CODING|ENST00000360563|exon_1_9778752_9778973 . . . 0/1:99:191,0,210 1 9778801 . C T NON_SYNONYMOUS_CODING PIK3CD MODERATE|MISSENSE|aCg/aTg|T322M|1068|PIK3CD|protein_coding|CODING|ENST00000361110|exon_1_9778752_9778973 . . . 0/1:99:191,0,210 1 9778801 . C T NON_SYNONYMOUS_CODING PIK3CD MODERATE|MISSENSE|aCg/aTg|T322M|1068|PIK3CD|protein_coding|CODING|ENST00000536656|exon_1_9778752_9778973 . . . 0/1:99:191,0,210 1 9778801 . C T NON_SYNONYMOUS_CODING PIK3CD MODERATE|MISSENSE|aCg/aTg|T357M|1044|PIK3CD|protein_coding|CODING|ENST00000377346|exon_1_9778752_9778973 . . . 0/1:99:191,0,210 1 10460485 rs1049887 T C NON_SYNONYMOUS_CODING PGD MODERATE|MISSENSE|aTg/aCg|M18T|429|PGD|protein_coding|CODING|ENST00000543846|exon_1_10460450_10460503 0/1:99:208,0,255 0/1:99:255,0,180 1/1:99:255,75,0 0/1:99:255,0,181 1 11090897 rs2273346 A G NON_SYNONYMOUS_CODING MASP2 MODERATE|MISSENSE|gTg/gCg|V377A|686|MASP2|protein_coding|CODING|ENST00000400897|exon_1_11090805_11090939 . . . 0/1:99:184,0,173 1 11579504 rs2072993 G C NON_SYNONYMOUS_CODING PTCHD2 MODERATE|MISSENSE|gGc/gCc|G661A|1392|PTCHD2|protein_coding|CODING|ENST00000294484|exon_1_11579412_11579560 0/1:99:180,0,242 1/1:99:255,60,0 . . 1 11579504 rs2072993 G C NON_SYNONYMOUS_CODING PTCHD2 MODERATE|MISSENSE|gGc/gCc|G661A|1392|PTCHD2|protein_coding|CODING|ENST00000389575|exon_1_11579412_11579560 0/1:99:180,0,242 1/1:99:255,60,0 . . 1 11585308 rs61750329 C T NON_SYNONYMOUS_CODING PTCHD2 MODERATE|MISSENSE|gCc/gTc|A851V|1392|PTCHD2|protein_coding|CODING|ENST00000294484|exon_1_11585233_11585369 . . . 0/1:81:155,0,78 1 11585308 rs61750329 C T NON_SYNONYMOUS_CODING PTCHD2 MODERATE|MISSENSE|gCc/gTc|A851V|1392|PTCHD2|protein_coding|CODING|ENST00000389575|exon_1_11585233_11585369 . . . 0/1:81:155,0,78 1 11710561 rs9614 T G NON_SYNONYMOUS_CODING FBXO2 MODERATE|MISSENSE|aAg/aCg|K118T|196|FBXO2|protein_coding|CODING|ENST00000452872|exon_1_11710523_11710891 0/1:99:184,0,194 . . 0/1:99:131,0,202 1 11710561 rs9614 T G NON_SYNONYMOUS_CODING FBXO2 MODERATE|MISSENSE|aAg/aCg|K118T|296|FBXO2|protein_coding|CODING|ENST00000354287|exon_1_11710523_11710891 0/1:99:184,0,194 . . 0/1:99:131,0,202 1 11728894 rs3125818 G A NON_SYNONYMOUS_CODING FBXO6 MODERATE|MISSENSE|cGa/cAa|R60Q|293|FBXO6|protein_coding|CODING|ENST00000376753|exon_1_11728713_11729001 0/1:99:255,0,174 . 0/1:99:201,0,255 . 1 11737551 rs2233018 C T NON_SYNONYMOUS_CODING MAD2L2 MODERATE|MISSENSE|Gtc/Atc|V94I|105|MAD2L2|protein_coding|CODING|ENST00000376655|exon_1_11736929_11737671 . 0/1:99:241,0,179 . . 1 11832289 rs61773952 C A NON_SYNONYMOUS_CODING C1orf167 MODERATE|MISSENSE|cCc/cAc|P678H|1473|C1orf167|protein_coding|CODING|ENST00000433342|exon_1_11832139_11832316 . 0/1:99:125,0,255 . . 1 11839971 rs41275460 C T NON_SYNONYMOUS_CODING C1orf167 MODERATE|MISSENSE|Cgg/Tgg|R946W|1473|C1orf167|protein_coding|CODING|ENST00000433342|exon_1_11839859_11840067 . . . 0/1:99:122,0,223 1 11839972 rs41275462 G A NON_SYNONYMOUS_CODING C1orf167 MODERATE|MISSENSE|cGg/cAg|R946Q|1473|C1orf167|protein_coding|CODING|ENST00000433342|exon_1_11839859_11840067 . 0/1:99:167,0,212 . . 1 11844454 rs41275464 A C NON_SYNONYMOUS_CODING C1orf167 MODERATE|MISSENSE|Aag/Cag|K1101Q|1473|C1orf167|protein_coding|CODING|ENST00000433342|exon_1_11844231_11844650 . . . 0/1:99:159,0,221 1 11845272 rs80132110 C T NON_SYNONYMOUS_CODING C1orf167 MODERATE|MISSENSE|Cgg/Tgg|R1189W|1473|C1orf167|protein_coding|CODING|ENST00000433342|exon_1_11845205_11845346 . 0/1:99:237,0,219 . . 1 11854085 rs142617551 T A NON_SYNONYMOUS_CODING MTHFR MODERATE|MISSENSE|gAg/gTg|E470V|656|MTHFR|protein_coding|CODING|ENST00000376590|exon_1_11853964_11854146 . 0/1:99:213,0,208 . . 1 11854085 rs142617551 T A NON_SYNONYMOUS_CODING MTHFR MODERATE|MISSENSE|gAg/gTg|E470V|656|MTHFR|protein_coding|CODING|ENST00000376592|exon_1_11853964_11854146 . 0/1:99:213,0,208 . . 1 11854085 rs142617551 T A NON_SYNONYMOUS_CODING MTHFR MODERATE|MISSENSE|gAg/gTg|E511V|697|MTHFR|protein_coding|CODING|ENST00000376583|exon_1_11853964_11854146 . 0/1:99:213,0,208 . . 1 11854085 rs142617551 T A NON_SYNONYMOUS_CODING MTHFR MODERATE|MISSENSE|gAg/gTg|E511V|697|MTHFR|protein_coding|CODING|ENST00000376585|exon_1_11853964_11854146 . 0/1:99:213,0,208 . . 1 11854086 rs139645527 C G NON_SYNONYMOUS_CODING MTHFR MODERATE|MISSENSE|Gag/Cag|E470Q|656|MTHFR|protein_coding|CODING|ENST00000376590|exon_1_11853964_11854146 . 0/1:99:216,0,212 . . 1 11854086 rs139645527 C G NON_SYNONYMOUS_CODING MTHFR MODERATE|MISSENSE|Gag/Cag|E470Q|656|MTHFR|protein_coding|CODING|ENST00000376592|exon_1_11853964_11854146 . 0/1:99:216,0,212 . . 1 11854086 rs139645527 C G NON_SYNONYMOUS_CODING MTHFR MODERATE|MISSENSE|Gag/Cag|E511Q|697|MTHFR|protein_coding|CODING|ENST00000376583|exon_1_11853964_11854146 . 0/1:99:216,0,212 . . 1 11854086 rs139645527 C G NON_SYNONYMOUS_CODING MTHFR MODERATE|MISSENSE|Gag/Cag|E511Q|697|MTHFR|protein_coding|CODING|ENST00000376585|exon_1_11853964_11854146 . 0/1:99:216,0,212 . . 1 12010469 rs2273285 G T NON_SYNONYMOUS_CODING PLOD1 MODERATE|MISSENSE|Gcc/Tcc|A120S|199|PLOD1|protein_coding|CODING|ENST00000358133|exon_1_12010414_12010577 . . 1/1:99:255,69,0 0/1:99:211,0,150 1 12010469 rs2273285 G T NON_SYNONYMOUS_CODING PLOD1 MODERATE|MISSENSE|Gcc/Tcc|A120S|282|PLOD1|protein_coding|CODING|ENST00000429000|exon_1_12010414_12010577 . . 1/1:99:255,69,0 0/1:99:211,0,150 1 12010469 rs2273285 G T NON_SYNONYMOUS_CODING PLOD1 MODERATE|MISSENSE|Gcc/Tcc|A120S|391|PLOD1|protein_coding|CODING|ENST00000414311|exon_1_12010414_12010567 . . 1/1:99:255,69,0 0/1:99:211,0,150 1 12010469 rs2273285 G T NON_SYNONYMOUS_CODING PLOD1 MODERATE|MISSENSE|Gcc/Tcc|A120S|727|PLOD1|protein_coding|CODING|ENST00000196061|exon_1_12010414_12010577 . . 1/1:99:255,69,0 0/1:99:211,0,150 1 12010469 rs2273285 G T NON_SYNONYMOUS_CODING PLOD1 MODERATE|MISSENSE|Gcc/Tcc|A167S|224|PLOD1|protein_coding|CODING|ENST00000449038|exon_1_12010414_12010577 . . 1/1:99:255,69,0 0/1:99:211,0,150 1 12010469 rs2273285 G T NON_SYNONYMOUS_CODING PLOD1 MODERATE|MISSENSE|Gcc/Tcc|A167S|774|PLOD1|protein_coding|CODING|ENST00000376369|exon_1_12010414_12010577 . . 1/1:99:255,69,0 0/1:99:211,0,150 1 12082461 rs11588712 C T NON_SYNONYMOUS_CODING MIIP MODERATE|MISSENSE|Ccg/Tcg|P142S|358|MIIP|protein_coding|CODING|ENST00000436478|exon_1_12082152_12082499 . 0/1:99:205,0,255 0/1:99:244,0,197 0/1:99:133,0,248 1 12082461 rs11588712 C T NON_SYNONYMOUS_CODING MIIP MODERATE|MISSENSE|Ccg/Tcg|P142S|388|MIIP|protein_coding|CODING|ENST00000235332|exon_1_12082152_12082499 . 0/1:99:205,0,255 0/1:99:244,0,197 0/1:99:133,0,248 1 12091410 rs140706620 G A NON_SYNONYMOUS_CODING MIIP MODERATE|MISSENSE|Gct/Act|A344T|388|MIIP|protein_coding|CODING|ENST00000235332|exon_1_12091323_12091460 . . 0/1:99:159,0,255 . 1 12198460 . C T NON_SYNONYMOUS_CODING TNFRSF8 MODERATE|MISSENSE|Cgg/Tgg|R392W|483|TNFRSF8|protein_coding|CODING|ENST00000417814|exon_1_12198289_12198493 0/1:99:130,0,211 . . . 1 12198460 . C T NON_SYNONYMOUS_CODING TNFRSF8 MODERATE|MISSENSE|Cgg/Tgg|R41W|132|TNFRSF8|protein_coding|CODING|ENST00000413146|exon_1_12198286_12198493 0/1:99:130,0,211 . . . 1 12198460 . C T NON_SYNONYMOUS_CODING TNFRSF8 MODERATE|MISSENSE|Cgg/Tgg|R504W|595|TNFRSF8|protein_coding|CODING|ENST00000263932|exon_1_12198286_12198493 0/1:99:130,0,211 . . . 1 12785295 rs17038445 C T NON_SYNONYMOUS_CODING AADACL3 MODERATE|MISSENSE|Cgg/Tgg|R129W|350|AADACL3|protein_coding|CODING|ENST00000359318|exon_1_12785189_12785963 0/1:99:214,0,204 . . . 1 12785295 rs17038445 C T NON_SYNONYMOUS_CODING AADACL3 MODERATE|MISSENSE|Cgg/Tgg|R59W|280|AADACL3|protein_coding|CODING|ENST00000332530|exon_1_12785189_12788726 0/1:99:214,0,204 . . . 1 12835168 rs17346571 C A NON_SYNONYMOUS_CODING PRAMEF12 MODERATE|MISSENSE|aCa/aAa|T53K|483|PRAMEF12|protein_coding|CODING|ENST00000357726|exon_1_12834984_12835297 0/1:99:255,0,254 . . . 1 12837471 rs79193271 A G NON_SYNONYMOUS_CODING PRAMEF12 MODERATE|MISSENSE|gAg/gGg|E394G|483|PRAMEF12|protein_coding|CODING|ENST00000357726|exon_1_12837154_12838049 0/1:99:179,0,255 . . . 1 12837475 rs78132363 C G NON_SYNONYMOUS_CODING PRAMEF12 MODERATE|MISSENSE|aaC/aaG|N395K|483|PRAMEF12|protein_coding|CODING|ENST00000357726|exon_1_12837154_12838049 0/1:99:175,0,255 . . . 1 12854188 rs76030350 T C NON_SYNONYMOUS_CODING PRAMEF1 MODERATE|MISSENSE|Tgt/Cgt|C138R|474|PRAMEF1|protein_coding|CODING|ENST00000332296|exon_1_12854064_12854642 0/1:60:57,0,255 . . . 1 12854356 rs61775051 T C NON_SYNONYMOUS_CODING PRAMEF1 MODERATE|MISSENSE|Tat/Cat|Y194H|474|PRAMEF1|protein_coding|CODING|ENST00000332296|exon_1_12854064_12854642 0/1:89:86,0,255 . . . 1 12855893 rs77615669 T G NON_SYNONYMOUS_CODING PRAMEF1 MODERATE|MISSENSE|atT/atG|I146M|229|PRAMEF1|protein_coding|CODING|ENST00000400814|exon_1_12855587_12856634 0/1:99:122,0,163 . . . 1 12855893 rs77615669 T G NON_SYNONYMOUS_CODING PRAMEF1 MODERATE|MISSENSE|atT/atG|I391M|474|PRAMEF1|protein_coding|CODING|ENST00000332296|exon_1_12855587_12856777 0/1:99:122,0,163 . . . 1 12855898 rs76032448 C T NON_SYNONYMOUS_CODING PRAMEF1 MODERATE|MISSENSE|gCc/gTc|A148V|229|PRAMEF1|protein_coding|CODING|ENST00000400814|exon_1_12855587_12856634 0/1:99:112,0,174 . . . 1 12855898 rs76032448 C T NON_SYNONYMOUS_CODING PRAMEF1 MODERATE|MISSENSE|gCc/gTc|A393V|474|PRAMEF1|protein_coding|CODING|ENST00000332296|exon_1_12855587_12856777 0/1:99:112,0,174 . . . 1 12887286 rs148820252 A T NON_SYNONYMOUS_CODING PRAMEF11 MODERATE|MISSENSE|Ttg/Atg|L191M|434|PRAMEF11|protein_coding|CODING|ENST00000437584|exon_1_12887108_12887689 0/1:72:69,0,255 . . . 1 12887286 rs148820252 A T NON_SYNONYMOUS_CODING PRAMEF11 MODERATE|MISSENSE|Ttg/Atg|L191M|436|PRAMEF11|protein_coding|CODING|ENST00000535591|exon_1_12887108_12887689 0/1:72:69,0,255 . . . 1 12887286 rs148820252 A T NON_SYNONYMOUS_CODING PRAMEF11 MODERATE|MISSENSE|Ttg/Atg|L232M|477|PRAMEF11|protein_coding|CODING|ENST00000331684|exon_1_12887108_12887689 0/1:72:69,0,255 . . . 1 12887390 . C G NON_SYNONYMOUS_CODING PRAMEF11 MODERATE|MISSENSE|aGa/aCa|R156T|434|PRAMEF11|protein_coding|CODING|ENST00000437584|exon_1_12887108_12887689 . . . 0/1:99:238,0,130 1 12887390 . C G NON_SYNONYMOUS_CODING PRAMEF11 MODERATE|MISSENSE|aGa/aCa|R156T|436|PRAMEF11|protein_coding|CODING|ENST00000535591|exon_1_12887108_12887689 . . . 0/1:99:238,0,130 1 12887390 . C G NON_SYNONYMOUS_CODING PRAMEF11 MODERATE|MISSENSE|aGa/aCa|R197T|477|PRAMEF11|protein_coding|CODING|ENST00000331684|exon_1_12887108_12887689 . . . 0/1:99:238,0,130 1 12888397 rs202156326 C T NON_SYNONYMOUS_CODING PRAMEF11 MODERATE|MISSENSE|Gat/Aat|D43N|434|PRAMEF11|protein_coding|CODING|ENST00000437584|exon_1_12888357_12888664 . 0/1:83:80,0,165 0/1:99:97,0,190 . 1 12888397 rs202156326 C T NON_SYNONYMOUS_CODING PRAMEF11 MODERATE|MISSENSE|Gat/Aat|D43N|436|PRAMEF11|protein_coding|CODING|ENST00000535591|exon_1_12888357_12888664 . 0/1:83:80,0,165 0/1:99:97,0,190 . 1 12888397 rs202156326 C T NON_SYNONYMOUS_CODING PRAMEF11 MODERATE|MISSENSE|Gat/Aat|D84N|477|PRAMEF11|protein_coding|CODING|ENST00000331684|exon_1_12888357_12888604 . 0/1:83:80,0,165 0/1:99:97,0,190 . 1 12888415 rs200349667 C T NON_SYNONYMOUS_CODING PRAMEF11 MODERATE|MISSENSE|Gcc/Acc|A37T|434|PRAMEF11|protein_coding|CODING|ENST00000437584|exon_1_12888357_12888664 . 0/1:84:81,0,158 0/1:99:107,0,151 . 1 12888415 rs200349667 C T NON_SYNONYMOUS_CODING PRAMEF11 MODERATE|MISSENSE|Gcc/Acc|A37T|436|PRAMEF11|protein_coding|CODING|ENST00000535591|exon_1_12888357_12888664 . 0/1:84:81,0,158 0/1:99:107,0,151 . 1 12888415 rs200349667 C T NON_SYNONYMOUS_CODING PRAMEF11 MODERATE|MISSENSE|Gcc/Acc|A78T|477|PRAMEF11|protein_coding|CODING|ENST00000331684|exon_1_12888357_12888604 . 0/1:84:81,0,158 0/1:99:107,0,151 . 1 12907379 rs74055698 T C NON_SYNONYMOUS_CODING HNRNPCL1 MODERATE|MISSENSE|gAt/gGt|D255G|293|HNRNPCL1|protein_coding|CODING|ENST00000317869|exon_1_12907261_12908323 0/1:99:163,0,255 0/1:99:245,0,255 . . 1 12907449 rs78163065 C G NON_SYNONYMOUS_CODING HNRNPCL1 MODERATE|MISSENSE|Gat/Cat|D232H|293|HNRNPCL1|protein_coding|CODING|ENST00000317869|exon_1_12907261_12908323 0/1:93:90,0,255 . . . 1 12907533 rs141872266 T C NON_SYNONYMOUS_CODING HNRNPCL1 MODERATE|MISSENSE|Att/Gtt|I204V|293|HNRNPCL1|protein_coding|CODING|ENST00000317869|exon_1_12907261_12908323 0/1:57:54,0,234 . . . 1 12908130 rs41279492 C T NON_SYNONYMOUS_CODING HNRNPCL1 MODERATE|MISSENSE|Gtt/Att|V5I|293|HNRNPCL1|protein_coding|CODING|ENST00000317869|exon_1_12907261_12908323 0/1:69:66,0,255 . . . 1 12918963 rs9661554 G T NON_SYNONYMOUS_CODING PRAMEF2 MODERATE|MISSENSE|agG/agT|R33S|474|PRAMEF2|protein_coding|CODING|ENST00000240189|exon_1_12918840_12919151 . 0/1:99:203,0,188 . . 1 12919064 rs3204790 T G NON_SYNONYMOUS_CODING PRAMEF2 MODERATE|MISSENSE|gTa/gGa|V67G|474|PRAMEF2|protein_coding|CODING|ENST00000240189|exon_1_12918840_12919151 0/1:99:220,0,224 0/1:99:168,0,218 . . 1 12919079 rs9659529 C G NON_SYNONYMOUS_CODING PRAMEF2 MODERATE|MISSENSE|aCg/aGg|T72R|474|PRAMEF2|protein_coding|CODING|ENST00000240189|exon_1_12918840_12919151 . 0/1:99:176,0,255 . . 1 12919111 rs9728577 G A NON_SYNONYMOUS_CODING PRAMEF2 MODERATE|MISSENSE|Gaa/Aaa|E83K|474|PRAMEF2|protein_coding|CODING|ENST00000240189|exon_1_12918840_12919151 0/1:99:161,0,255 . . . 1 12919624 rs80027487 C G NON_SYNONYMOUS_CODING PRAMEF2 MODERATE|MISSENSE|Ctg/Gtg|L122V|474|PRAMEF2|protein_coding|CODING|ENST00000240189|exon_1_12919548_12920126 . 0/1:99:205,0,255 . . 1 12919642 rs142476002 G A NON_SYNONYMOUS_CODING PRAMEF2 MODERATE|MISSENSE|Gcc/Acc|A128T|474|PRAMEF2|protein_coding|CODING|ENST00000240189|exon_1_12919548_12920126 0/1:93:90,0,255 . . 0/1:54:51,0,246 1 12919872 rs3204798 T G NON_SYNONYMOUS_CODING PRAMEF2 MODERATE|MISSENSE|atT/atG|I204M|474|PRAMEF2|protein_coding|CODING|ENST00000240189|exon_1_12919548_12920126 0/1:99:247,0,255 . . . 1 12919928 rs72472698 A G NON_SYNONYMOUS_CODING PRAMEF2 MODERATE|MISSENSE|aAg/aGg|K223R|474|PRAMEF2|protein_coding|CODING|ENST00000240189|exon_1_12919548_12920126 . 0/1:99:240,0,255 . . 1 12919934 rs3204805 A G NON_SYNONYMOUS_CODING PRAMEF2 MODERATE|MISSENSE|tAt/tGt|Y225C|474|PRAMEF2|protein_coding|CODING|ENST00000240189|exon_1_12919548_12920126 0/1:99:200,0,255 0/1:99:248,0,255 . . 1 12919963 rs72472699 T G NON_SYNONYMOUS_CODING PRAMEF2 MODERATE|MISSENSE|Tgc/Ggc|C235G|474|PRAMEF2|protein_coding|CODING|ENST00000240189|exon_1_12919548_12920126 . 0/1:99:219,0,255 . . 1 12921110 rs12139546 A G NON_SYNONYMOUS_CODING PRAMEF2 MODERATE|MISSENSE|Act/Gct|T301A|474|PRAMEF2|protein_coding|CODING|ENST00000240189|exon_1_12921076_12921764 . 0/1:99:153,0,255 . . 1 12921132 rs12139550 A G NON_SYNONYMOUS_CODING PRAMEF2 MODERATE|MISSENSE|gAg/gGg|E308G|474|PRAMEF2|protein_coding|CODING|ENST00000240189|exon_1_12921076_12921764 . 0/1:99:175,0,255 . . 1 12921386 rs146271489 G A NON_SYNONYMOUS_CODING PRAMEF2 MODERATE|MISSENSE|Gcc/Acc|A393T|474|PRAMEF2|protein_coding|CODING|ENST00000240189|exon_1_12921076_12921764 . . 0/1:99:128,0,255 . 1 12921576 rs143879460 C T NON_SYNONYMOUS_CODING PRAMEF2 MODERATE|MISSENSE|cCc/cTc|P456L|474|PRAMEF2|protein_coding|CODING|ENST00000240189|exon_1_12921076_12921764 . 0/1:99:155,0,167 . . 1 12939495 rs150289150 A T NON_SYNONYMOUS_CODING PRAMEF4 MODERATE|MISSENSE|aTt/aAt|I436N|478|PRAMEF4|protein_coding|CODING|ENST00000235349|exon_1_12939045_12939926 0/1:92:89,0,173 . . . 1 12939535 rs72474509 C T NON_SYNONYMOUS_CODING PRAMEF4 MODERATE|MISSENSE|Ggt/Agt|G423S|478|PRAMEF4|protein_coding|CODING|ENST00000235349|exon_1_12939045_12939926 0/1:71:68,0,183 . . . 1 12939568 rs147865267 C G NON_SYNONYMOUS_CODING PRAMEF4 MODERATE|MISSENSE|Gtg/Ctg|V412L|478|PRAMEF4|protein_coding|CODING|ENST00000235349|exon_1_12939045_12939926 . . . 0/1:28:124,0,25 1 12939655 rs74842149 T G NON_SYNONYMOUS_CODING PRAMEF4 MODERATE|MISSENSE|Aac/Cac|N383H|478|PRAMEF4|protein_coding|CODING|ENST00000235349|exon_1_12939045_12939926 . . . 1/1:4:98,1,0 1 12939664 rs78455617 A T NON_SYNONYMOUS_CODING PRAMEF4 MODERATE|MISSENSE|Ttt/Att|F380I|478|PRAMEF4|protein_coding|CODING|ENST00000235349|exon_1_12939045_12939926 . 0/1:99:170,0,141 . . 1 12939904 rs148317829 A C NON_SYNONYMOUS_CODING PRAMEF4 MODERATE|MISSENSE|Ttc/Gtc|F300V|478|PRAMEF4|protein_coding|CODING|ENST00000235349|exon_1_12939045_12939926 0/1:55:52,0,255 0/1:68:65,0,131 . 1/1:81:99,42,0 1 12941742 rs4514247 G A NON_SYNONYMOUS_CODING PRAMEF4 MODERATE|MISSENSE|Cgc/Tgc|R270C|478|PRAMEF4|protein_coding|CODING|ENST00000235349|exon_1_12941675_12942256 . . . 0/1:3:101,0,0 1 12942047 rs199749044 C T NON_SYNONYMOUS_CODING PRAMEF4 MODERATE|MISSENSE|tGc/tAc|C168Y|478|PRAMEF4|protein_coding|CODING|ENST00000235349|exon_1_12941675_12942256 0/1:92:108,0,89 0/1:59:56,0,208 0/1:83:80,0,228 0/1:68:65,0,183 1 12942179 rs200929518 T C NON_SYNONYMOUS_CODING PRAMEF4 MODERATE|MISSENSE|cAt/cGt|H124R|478|PRAMEF4|protein_coding|CODING|ENST00000235349|exon_1_12941675_12942256 . . . 1/1:37:91,20,0 1 12942961 rs4625290 A C NON_SYNONYMOUS_CODING PRAMEF4 MODERATE|MISSENSE|gaT/gaG|D85E|478|PRAMEF4|protein_coding|CODING|ENST00000235349|exon_1_12942923_12943231 . 0/1:99:217,0,159 . . 1 12943200 rs3121079 A G NON_SYNONYMOUS_CODING PRAMEF4 MODERATE|MISSENSE|Tgg/Cgg|W6R|478|PRAMEF4|protein_coding|CODING|ENST00000235349|exon_1_12942923_12943231 . 0/1:91:88,0,200 . . 1 13448547 rs200801174 T C NON_SYNONYMOUS_CODING PRAMEF13 MODERATE|MISSENSE|Atg/Gtg|M310V|474|PRAMEF13|protein_coding|CODING|ENST00000376132|exon_1_13447414_13448608 1/1:21:62,12,0 . . . 1 13497592 rs199979987 A G NON_SYNONYMOUS_CODING PRAMEF16 MODERATE|MISSENSE|Acc/Gcc|T297A|474|PRAMEF16|protein_coding|CODING|ENST00000376121|exon_1_13497570_13498260 1/1:21:53,12,0 . . . 1 13718814 . A G NON_SYNONYMOUS_CODING PRAMEF17 MODERATE|MISSENSE|aAt/aGt|N426S|474|PRAMEF17|protein_coding|CODING|ENST00000376098|exon_1_13718404_13719064 0/1:71:81,0,68 . . . 1 15627776 rs12039283 G A NON_SYNONYMOUS_CODING FHAD1 MODERATE|MISSENSE|Gtc/Atc|V252I|1376|FHAD1|protein_coding|CODING|ENST00000417793|exon_1_15627701_15627937 0/1:99:183,0,158 . . . 1 15627776 rs12039283 G A NON_SYNONYMOUS_CODING FHAD1 MODERATE|MISSENSE|Gtc/Atc|V252I|1412|FHAD1|protein_coding|CODING|ENST00000358897|exon_1_15627701_15627937 0/1:99:183,0,158 . . . 1 15627776 rs12039283 G A NON_SYNONYMOUS_CODING FHAD1 MODERATE|MISSENSE|Gtc/Atc|V252I|1412|FHAD1|protein_coding|CODING|ENST00000375998|exon_1_15627701_15627937 0/1:99:183,0,158 . . . 1 15627776 rs12039283 G A NON_SYNONYMOUS_CODING FHAD1 MODERATE|MISSENSE|Gtc/Atc|V252I|1453|FHAD1|protein_coding|CODING|ENST00000375999|exon_1_15627701_15627937 0/1:99:183,0,158 . . . 1 16344683 rs872221 C T NON_SYNONYMOUS_CODING HSPB7 MODERATE|MISSENSE|Ggg/Agg|G14R|263|HSPB7|protein_coding|CODING|ENST00000375714|exon_1_16344260_16345285 0/1:99:194,0,224 . . . 1 16345735 rs1544131 C T NON_SYNONYMOUS_CODING HSPB7 MODERATE|MISSENSE|cGg/cAg|R77Q|245|HSPB7|protein_coding|CODING|ENST00000375718|exon_1_16345629_16346089 0/1:99:240,0,222 . . . 1 16355638 rs79751787 T A NON_SYNONYMOUS_CODING CLCNKA MODERATE|MISSENSE|caT/caA|H314Q|644|CLCNKA|protein_coding|CODING|ENST00000439316|exon_1_16355621_16355794 0/1:99:193,0,142 . . . 1 16355638 rs79751787 T A NON_SYNONYMOUS_CODING CLCNKA MODERATE|MISSENSE|caT/caA|H357Q|686|CLCNKA|protein_coding|CODING|ENST00000375692|exon_1_16355621_16355794 0/1:99:193,0,142 . . . 1 16355638 rs79751787 T A NON_SYNONYMOUS_CODING CLCNKA MODERATE|MISSENSE|caT/caA|H357Q|686|CLCNKA|protein_coding|CODING|ENST00000420078|exon_1_16355621_16355794 0/1:99:193,0,142 . . . 1 16355638 rs79751787 T A NON_SYNONYMOUS_CODING CLCNKA MODERATE|MISSENSE|caT/caA|H357Q|687|CLCNKA|protein_coding|CODING|ENST00000331433|exon_1_16355621_16355794 0/1:99:193,0,142 . . . 1 16356522 rs34471231 A G NON_SYNONYMOUS_CODING CLCNKA MODERATE|MISSENSE|Act/Gct|T411A|644|CLCNKA|protein_coding|CODING|ENST00000439316|exon_1_16356460_16356570 . . . 0/1:58:55,0,188 1 16356522 rs34471231 A G NON_SYNONYMOUS_CODING CLCNKA MODERATE|MISSENSE|Act/Gct|T454A|686|CLCNKA|protein_coding|CODING|ENST00000375692|exon_1_16356460_16356570 . . . 0/1:58:55,0,188 1 16356522 rs34471231 A G NON_SYNONYMOUS_CODING CLCNKA MODERATE|MISSENSE|Act/Gct|T454A|686|CLCNKA|protein_coding|CODING|ENST00000420078|exon_1_16356460_16356570 . . . 0/1:58:55,0,188 1 16356522 rs34471231 A G NON_SYNONYMOUS_CODING CLCNKA MODERATE|MISSENSE|Act/Gct|T454A|687|CLCNKA|protein_coding|CODING|ENST00000331433|exon_1_16356460_16356570 . . . 0/1:58:55,0,188 1 16356531 rs35747151 G A NON_SYNONYMOUS_CODING CLCNKA MODERATE|MISSENSE|Gtt/Att|V414I|644|CLCNKA|protein_coding|CODING|ENST00000439316|exon_1_16356460_16356570 . . . 0/1:54:51,0,173 1 16356531 rs35747151 G A NON_SYNONYMOUS_CODING CLCNKA MODERATE|MISSENSE|Gtt/Att|V457I|686|CLCNKA|protein_coding|CODING|ENST00000375692|exon_1_16356460_16356570 . . . 0/1:54:51,0,173 1 16356531 rs35747151 G A NON_SYNONYMOUS_CODING CLCNKA MODERATE|MISSENSE|Gtt/Att|V457I|686|CLCNKA|protein_coding|CODING|ENST00000420078|exon_1_16356460_16356570 . . . 0/1:54:51,0,173 1 16356531 rs35747151 G A NON_SYNONYMOUS_CODING CLCNKA MODERATE|MISSENSE|Gtt/Att|V457I|687|CLCNKA|protein_coding|CODING|ENST00000331433|exon_1_16356460_16356570 . . . 0/1:54:51,0,173 1 16357147 rs12140223 C T NON_SYNONYMOUS_CODING CLCNKA MODERATE|MISSENSE|Cgg/Tgg|R491W|644|CLCNKA|protein_coding|CODING|ENST00000439316|exon_1_16356956_16357169 . . . 0/1:99:161,0,223 1 16357147 rs12140223 C T NON_SYNONYMOUS_CODING CLCNKA MODERATE|MISSENSE|Cgg/Tgg|R534W|686|CLCNKA|protein_coding|CODING|ENST00000375692|exon_1_16356956_16357169 . . . 0/1:99:161,0,223 1 16357147 rs12140223 C T NON_SYNONYMOUS_CODING CLCNKA MODERATE|MISSENSE|Cgg/Tgg|R534W|686|CLCNKA|protein_coding|CODING|ENST00000420078|exon_1_16356956_16357169 . . . 0/1:99:161,0,223 1 16357147 rs12140223 C T NON_SYNONYMOUS_CODING CLCNKA MODERATE|MISSENSE|Cgg/Tgg|R534W|687|CLCNKA|protein_coding|CODING|ENST00000331433|exon_1_16356956_16357169 . . . 0/1:99:161,0,223 1 16359674 . C T NON_SYNONYMOUS_CODING CLCNKA MODERATE|MISSENSE|Ctc/Ttc|L604F|644|CLCNKA|protein_coding|CODING|ENST00000439316|exon_1_16359665_16359751 0/1:99:240,0,255 . . . 1 16359674 . C T NON_SYNONYMOUS_CODING CLCNKA MODERATE|MISSENSE|Ctc/Ttc|L646F|686|CLCNKA|protein_coding|CODING|ENST00000375692|exon_1_16359665_16359751 0/1:99:240,0,255 . . . 1 16359674 . C T NON_SYNONYMOUS_CODING CLCNKA MODERATE|MISSENSE|Ctc/Ttc|L646F|686|CLCNKA|protein_coding|CODING|ENST00000420078|exon_1_16359665_16359751 0/1:99:240,0,255 . . . 1 16359674 . C T NON_SYNONYMOUS_CODING CLCNKA MODERATE|MISSENSE|Ctc/Ttc|L647F|687|CLCNKA|protein_coding|CODING|ENST00000331433|exon_1_16359665_16359751 0/1:99:240,0,255 . . . 1 16360137 rs12746751 C T NON_SYNONYMOUS_CODING CLCNKA MODERATE|MISSENSE|cCg/cTg|P640L|644|CLCNKA|protein_coding|CODING|ENST00000439316|exon_1_16360106_16360158 . . . 0/1:99:148,0,137 1 16360137 rs12746751 C T NON_SYNONYMOUS_CODING CLCNKA MODERATE|MISSENSE|cCg/cTg|P682L|686|CLCNKA|protein_coding|CODING|ENST00000375692|exon_1_16360106_16360545 . . . 0/1:99:148,0,137 1 16360137 rs12746751 C T NON_SYNONYMOUS_CODING CLCNKA MODERATE|MISSENSE|cCg/cTg|P682L|686|CLCNKA|protein_coding|CODING|ENST00000420078|exon_1_16360106_16360542 . . . 0/1:99:148,0,137 1 16360137 rs12746751 C T NON_SYNONYMOUS_CODING CLCNKA MODERATE|MISSENSE|cCg/cTg|P683L|687|CLCNKA|protein_coding|CODING|ENST00000331433|exon_1_16360106_16360545 . . . 0/1:99:148,0,137 1 16382201 rs143663847 G A NON_SYNONYMOUS_CODING CLCNKB MODERATE|MISSENSE|tGc/tAc|C114Y|146|CLCNKB|protein_coding|CODING|ENST00000431772|exon_1_16382173_16382253 . 0/1:99:168,0,255 . . 1 16382201 rs143663847 G A NON_SYNONYMOUS_CODING CLCNKB MODERATE|MISSENSE|tGc/tAc|C123Y|155|CLCNKB|protein_coding|CODING|ENST00000375668|exon_1_16382173_16382253 . 0/1:99:168,0,255 . . 1 16382201 rs143663847 G A NON_SYNONYMOUS_CODING CLCNKB MODERATE|MISSENSE|tGc/tAc|C456Y|517|CLCNKB|protein_coding|CODING|ENST00000375667|exon_1_16382173_16382253 . 0/1:99:168,0,255 . . 1 16382201 rs143663847 G A NON_SYNONYMOUS_CODING CLCNKB MODERATE|MISSENSE|tGc/tAc|C626Y|687|CLCNKB|protein_coding|CODING|ENST00000375679|exon_1_16382170_16382253 . 0/1:99:168,0,255 . . 1 16385131 rs1832151 C A NON_SYNONYMOUS_CODING FAM131C MODERATE|MISSENSE|aGc/aTc|S215I|280|FAM131C|protein_coding|CODING|ENST00000375662|exon_1_16384264_16385212 . 0/1:99:151,0,255 . . 1 16532498 rs41269185 G A NON_SYNONYMOUS_CODING ARHGEF19 MODERATE|MISSENSE|cCg/cTg|P143L|167|ARHGEF19|protein_coding|CODING|ENST00000441785|exon_1_16532344_16532578 . 0/1:99:97,0,229 . . 1 16532498 rs41269185 G A NON_SYNONYMOUS_CODING ARHGEF19 MODERATE|MISSENSE|cCg/cTg|P460L|502|ARHGEF19|protein_coding|CODING|ENST00000421561|exon_1_16532426_16532578 . 0/1:99:97,0,229 . . 1 16532498 rs41269185 G A NON_SYNONYMOUS_CODING ARHGEF19 MODERATE|MISSENSE|cCg/cTg|P460L|524|ARHGEF19|protein_coding|CODING|ENST00000375607|exon_1_16532426_16532578 . 0/1:99:97,0,229 . . 1 16532498 rs41269185 G A NON_SYNONYMOUS_CODING ARHGEF19 MODERATE|MISSENSE|cCg/cTg|P460L|802|ARHGEF19|protein_coding|CODING|ENST00000270747|exon_1_16532426_16532578 . 0/1:99:97,0,229 . . 1 16727305 . GCTTCT GCTTCTTCT CODON_INSERTION SPATA21 MODERATE||-/AGA|-337R|446|SPATA21|protein_coding|CODING|ENST00000540400|exon_1_16727215_16727387 . 0/1:99:255,0,255 . . 1 16727305 . GCTTCT GCTTCTTCT CODON_INSERTION SPATA21 MODERATE||-/AGA|-360R|469|SPATA21|protein_coding|CODING|ENST00000335496|exon_1_16727215_16727387 . 0/1:99:255,0,255 . . 1 16727305 . GCTTCT GCTTCTTCT CODON_INSERTION SPATA21 MODERATE||-/AGA|-68R|160|SPATA21|protein_coding|CODING|ENST00000491418|exon_1_16727215_16727387 . 0/1:99:255,0,255 . . 1 17084021 rs2446543 C G NON_SYNONYMOUS_CODING MST1P9 MODERATE|MISSENSE|Gcc/Ccc|A634P|689|MST1P9|protein_coding|CODING|ENST00000334998|exon_1_17084013_17084152 0/1:72:69,0,167 . . . 1 17084021 rs2446543 C G NON_SYNONYMOUS_CODING MST1P9 MODERATE|MISSENSE|Gcc/Ccc|A660P|715|MST1P9|protein_coding|CODING|ENST00000442552|exon_1_17084013_17084152 0/1:72:69,0,167 . . . 1 17085030 . C T NON_SYNONYMOUS_CODING MST1P9 MODERATE|MISSENSE|cGt/cAt|R451H|564|MST1P9|protein_coding|CODING|ENST00000389184|exon_1_17084961_17085081 0/1:63:60,0,253 . . . 1 17085030 . C T NON_SYNONYMOUS_CODING MST1P9 MODERATE|MISSENSE|cGt/cAt|R482H|689|MST1P9|protein_coding|CODING|ENST00000334998|exon_1_17084961_17085081 0/1:63:60,0,253 . . . 1 17085030 . C T NON_SYNONYMOUS_CODING MST1P9 MODERATE|MISSENSE|cGt/cAt|R482H|715|MST1P9|protein_coding|CODING|ENST00000442552|exon_1_17084961_17085081 0/1:63:60,0,253 . . . 1 17085046 rs200838083 C G NON_SYNONYMOUS_CODING MST1P9 MODERATE|MISSENSE|Gat/Cat|D446H|564|MST1P9|protein_coding|CODING|ENST00000389184|exon_1_17084961_17085081 . . . 0/1:55:52,0,255 1 17085046 rs200838083 C G NON_SYNONYMOUS_CODING MST1P9 MODERATE|MISSENSE|Gat/Cat|D477H|689|MST1P9|protein_coding|CODING|ENST00000334998|exon_1_17084961_17085081 . . . 0/1:55:52,0,255 1 17085046 rs200838083 C G NON_SYNONYMOUS_CODING MST1P9 MODERATE|MISSENSE|Gat/Cat|D477H|715|MST1P9|protein_coding|CODING|ENST00000442552|exon_1_17084961_17085081 . . . 0/1:55:52,0,255 1 17087065 rs200077420 T G NON_SYNONYMOUS_CODING MST1P9 MODERATE|MISSENSE|Aag/Cag|K118Q|564|MST1P9|protein_coding|CODING|ENST00000389184|exon_1_17087064_17087178 . 0/1:82:79,0,255 . 0/1:67:64,0,255 1 17087459 rs11576695 A G NON_SYNONYMOUS_CODING MST1P9 MODERATE|MISSENSE|aTg/aCg|M39T|564|MST1P9|protein_coding|CODING|ENST00000389184|exon_1_17087450_17087541 0/1:81:78,0,255 . 0/1:63:60,0,255 . 1 17087459 rs11576695 A G NON_SYNONYMOUS_CODING MST1P9 MODERATE|MISSENSE|aTg/aCg|M69T|689|MST1P9|protein_coding|CODING|ENST00000334998|exon_1_17087450_17087597 0/1:81:78,0,255 . 0/1:63:60,0,255 . 1 17087459 rs11576695 A G NON_SYNONYMOUS_CODING MST1P9 MODERATE|MISSENSE|aTg/aCg|M69T|715|MST1P9|protein_coding|CODING|ENST00000442552|exon_1_17087450_17087597 0/1:81:78,0,255 . 0/1:63:60,0,255 . 1 17265507 rs201951425 C T NON_SYNONYMOUS_CODING CROCC MODERATE|MISSENSE|cCg/cTg|P374L|1898|CROCC|protein_coding|CODING|ENST00000445545|exon_1_17265404_17265637 . . . 0/1:99:125,0,255 1 17265507 rs201951425 C T NON_SYNONYMOUS_CODING CROCC MODERATE|MISSENSE|cCg/cTg|P493L|2017|CROCC|protein_coding|CODING|ENST00000375541|exon_1_17265404_17265637 . . . 0/1:99:125,0,255 1 17281235 rs41272737 G A NON_SYNONYMOUS_CODING CROCC MODERATE|MISSENSE|Gtg/Atg|V1110M|2017|CROCC|protein_coding|CODING|ENST00000375541|exon_1_17281229_17281372 . . . 0/1:99:228,0,163 1 17281235 rs41272737 G A NON_SYNONYMOUS_CODING CROCC MODERATE|MISSENSE|Gtg/Atg|V991M|1898|CROCC|protein_coding|CODING|ENST00000445545|exon_1_17281229_17281372 . . . 0/1:99:228,0,163 1 17281278 rs41272739 G A NON_SYNONYMOUS_CODING CROCC MODERATE|MISSENSE|cGg/cAg|R1005Q|1898|CROCC|protein_coding|CODING|ENST00000445545|exon_1_17281229_17281372 . . . 0/1:99:208,0,130 1 17281278 rs41272739 G A NON_SYNONYMOUS_CODING CROCC MODERATE|MISSENSE|cGg/cAg|R1124Q|2017|CROCC|protein_coding|CODING|ENST00000375541|exon_1_17281229_17281372 . . . 0/1:99:208,0,130 1 17287301 rs76576326 A G NON_SYNONYMOUS_CODING CROCC MODERATE|MISSENSE|Acc/Gcc|T1242A|1898|CROCC|protein_coding|CODING|ENST00000445545|exon_1_17287253_17287625 . . . 0/1:99:219,0,214 1 17287301 rs76576326 A G NON_SYNONYMOUS_CODING CROCC MODERATE|MISSENSE|Acc/Gcc|T1361A|2017|CROCC|protein_coding|CODING|ENST00000375541|exon_1_17287253_17287625 . . . 0/1:99:219,0,214 1 17292223 rs78888579 G A NON_SYNONYMOUS_CODING CROCC MODERATE|MISSENSE|Ggg/Agg|G1352R|1898|CROCC|protein_coding|CODING|ENST00000445545|exon_1_17292218_17292387 . . . 0/1:99:169,0,222 1 17292223 rs78888579 G A NON_SYNONYMOUS_CODING CROCC MODERATE|MISSENSE|Ggg/Agg|G1471R|2017|CROCC|protein_coding|CODING|ENST00000375541|exon_1_17292218_17292387 . . . 0/1:99:169,0,222 1 17312592 rs15786 G A NON_SYNONYMOUS_CODING ATP13A2 MODERATE|MISSENSE|cCt/cTt|P1122L|1158|ATP13A2|protein_coding|CODING|ENST00000341676|exon_1_17312453_17312853 . . 0/1:99:200,0,232 . 1 17312592 rs15786 G A NON_SYNONYMOUS_CODING ATP13A2 MODERATE|MISSENSE|cCt/cTt|P362L|398|ATP13A2|protein_coding|CODING|ENST00000502418|exon_1_17312476_17312853 . . 0/1:99:200,0,232 . 1 17550898 rs56319324 A T NON_SYNONYMOUS_CODING PADI1 MODERATE|MISSENSE|aAg/aTg|K128M|663|PADI1|protein_coding|CODING|ENST00000375471|exon_1_17550862_17550923 . 0/1:99:169,0,255 . . 1 17739647 . T C NON_SYNONYMOUS_CODING RCC2 MODERATE|MISSENSE|aAc/aGc|N412S|522|RCC2|protein_coding|CODING|ENST00000375433|exon_1_17739569_17739674 . . . 0/1:99:192,0,243 1 17739647 . T C NON_SYNONYMOUS_CODING RCC2 MODERATE|MISSENSE|aAc/aGc|N412S|522|RCC2|protein_coding|CODING|ENST00000375436|exon_1_17739569_17739674 . . . 0/1:99:192,0,243 1 17944934 rs139656107 C T NON_SYNONYMOUS_CODING ARHGEF10L MODERATE|MISSENSE|gCc/gTc|A29V|1042|ARHGEF10L|protein_coding|CODING|ENST00000457829|exon_1_17944845_17945017 . . 1/1:99:255,60,0 . 1 17944934 rs139656107 C T NON_SYNONYMOUS_CODING ARHGEF10L MODERATE|MISSENSE|gCc/gTc|A29V|1052|ARHGEF10L|protein_coding|CODING|ENST00000375408|exon_1_17944811_17945017 . . 1/1:99:255,60,0 . 1 17944934 rs139656107 C T NON_SYNONYMOUS_CODING ARHGEF10L MODERATE|MISSENSE|gCc/gTc|A29V|982|ARHGEF10L|protein_coding|CODING|ENST00000167825|exon_1_17944849_17945017 . . 1/1:99:255,60,0 . 1 19166893 rs6662276 C T NON_SYNONYMOUS_CODING TAS1R2 MODERATE|MISSENSE|Gcc/Acc|A574T|839|TAS1R2|protein_coding|CODING|ENST00000375371|exon_1_19166093_19167021 . . 0/1:99:215,0,255 . 1 19235138 rs41273179 C T NON_SYNONYMOUS_CODING IFFO2 MODERATE|MISSENSE|Gtg/Atg|V435M|461|IFFO2|protein_coding|CODING|ENST00000304963|exon_1_19230774_19235160 0/1:99:161,0,214 . . . 1 19235138 rs41273179 C T NON_SYNONYMOUS_CODING IFFO2 MODERATE|MISSENSE|Gtg/Atg|V491M|517|IFFO2|protein_coding|CODING|ENST00000455833|exon_1_19230775_19235160 0/1:99:161,0,214 . . . 1 19235138 rs41273179 C T NON_SYNONYMOUS_CODING IFFO2 MODERATE|MISSENSE|Gtg/Atg|V62M|88|IFFO2|protein_coding|CODING|ENST00000355609|exon_1_19234785_19235160 0/1:99:161,0,214 . . . 1 19634964 rs859208 C G NON_SYNONYMOUS_CODING AKR7A2 MODERATE|MISSENSE|caG/caC|Q147H|314|AKR7A2|protein_coding|CODING|ENST00000330072|exon_1_19634949_19635136 0/1:99:189,0,255 . . . 1 19634964 rs859208 C G NON_SYNONYMOUS_CODING AKR7A2 MODERATE|MISSENSE|caG/caC|Q157H|359|AKR7A2|protein_coding|CODING|ENST00000235835|exon_1_19634949_19635136 0/1:99:189,0,255 . . . 1 20072082 rs35760408 C T NON_SYNONYMOUS_CODING TMCO4 MODERATE|MISSENSE|Ggc/Agc|G274S|580|TMCO4|protein_coding|CODING|ENST00000375127|exon_1_20072025_20072144 0/1:99:155,0,129 . . . 1 20072082 rs35760408 C T NON_SYNONYMOUS_CODING TMCO4 MODERATE|MISSENSE|Ggc/Agc|G274S|634|TMCO4|protein_coding|CODING|ENST00000294543|exon_1_20072025_20072144 0/1:99:155,0,129 . . . 1 20442928 rs143525617 A G NON_SYNONYMOUS_CODING PLA2G2D MODERATE|MISSENSE|aTg/aCg|M28T|145|PLA2G2D|protein_coding|CODING|ENST00000375105|exon_1_20442826_20442970 . . . 0/1:97:172,0,94 1 20960385 rs148871409 A T NON_SYNONYMOUS_CODING PINK1 MODERATE|MISSENSE|cAg/cTg|Q115L|581|PINK1|protein_coding|CODING|ENST00000321556|exon_1_20959948_20960428 . . . 0/1:99:153,0,106 1 21071406 rs143662289 T G NON_SYNONYMOUS_CODING HP1BP3 MODERATE|MISSENSE|Atc/Ctc|I364L|401|HP1BP3|protein_coding|CODING|ENST00000375003|exon_1_21069175_21071584 0/1:99:242,0,196 . . . 1 21071406 rs143662289 T G NON_SYNONYMOUS_CODING HP1BP3 MODERATE|MISSENSE|Atc/Ctc|I478L|515|HP1BP3|protein_coding|CODING|ENST00000375004|exon_1_21069175_21071584 0/1:99:242,0,196 . . . 1 21071406 rs143662289 T G NON_SYNONYMOUS_CODING HP1BP3 MODERATE|MISSENSE|Atc/Ctc|I516L|553|HP1BP3|protein_coding|CODING|ENST00000312239|exon_1_21069154_21071584 0/1:99:242,0,196 . . . 1 22202155 rs78889849 C T NON_SYNONYMOUS_CODING HSPG2 MODERATE|MISSENSE|cGa/cAa|R1090Q|4391|HSPG2|protein_coding|CODING|ENST00000374695|exon_1_22202122_22202240 . 0/1:99:140,0,220 . . 1 22211941 rs75467696 G T NON_SYNONYMOUS_CODING HSPG2 MODERATE|MISSENSE|aCc/aAc|T361N|4391|HSPG2|protein_coding|CODING|ENST00000374695|exon_1_22211813_22211944 . 0/1:99:227,0,182 . . 1 22214040 rs41310388 G A NON_SYNONYMOUS_CODING HSPG2 MODERATE|MISSENSE|cCg/cTg|P200L|239|HSPG2|protein_coding|CODING|ENST00000412328|exon_1_22213913_22214167 . . 0/1:99:99,0,170 . 1 22310215 rs149805485 C T NON_SYNONYMOUS_CODING CELA3B MODERATE|MISSENSE|Cgc/Tgc|R131C|270|CELA3B|protein_coding|CODING|ENST00000337107|exon_1_22310187_22310323 0/1:99:187,0,234 . . . 1 22310215 rs149805485 C T NON_SYNONYMOUS_CODING CELA3B MODERATE|MISSENSE|Cgc/Tgc|R147C|163|CELA3B|protein_coding|CODING|ENST00000374666|exon_1_22310187_22310270 0/1:99:187,0,234 . . . 1 22310215 rs149805485 C T NON_SYNONYMOUS_CODING CELA3B MODERATE|MISSENSE|Cgc/Tgc|R34C|180|CELA3B|protein_coding|CODING|ENST00000400277|exon_1_22310187_22310323 0/1:99:187,0,234 . . . 1 22310807 rs114365157 A G NON_SYNONYMOUS_CODING CELA3B MODERATE|MISSENSE|Atc/Gtc|I112V|180|CELA3B|protein_coding|CODING|ENST00000400277|exon_1_22310682_22310824 . . . 0/1:99:138,0,195 1 22310807 rs114365157 A G NON_SYNONYMOUS_CODING CELA3B MODERATE|MISSENSE|Atc/Gtc|I209V|270|CELA3B|protein_coding|CODING|ENST00000337107|exon_1_22310682_22310824 . . . 0/1:99:138,0,195 1 22328207 rs11541414 G A NON_SYNONYMOUS_CODING CELA3A MODERATE|MISSENSE|Gtt/Att|V14I|121|CELA3A|protein_coding|CODING|ENST00000374663|exon_1_22328153_22328210 . 0/1:99:255,0,193 . . 1 22328207 rs11541414 G A NON_SYNONYMOUS_CODING CELA3A MODERATE|MISSENSE|Gtt/Att|V14I|270|CELA3A|protein_coding|CODING|ENST00000290122|exon_1_22328149_22328210 . 0/1:99:255,0,193 . . 1 22915858 rs76452513 C T NON_SYNONYMOUS_CODING EPHA8 MODERATE|MISSENSE|Ctt/Ttt|L492F|495|EPHA8|protein_coding|CODING|ENST00000374644|exon_1_22915364_22916114 0/1:99:255,0,243 . . . 1 22915858 rs76452513 C T NON_SYNONYMOUS_CODING EPHA8 MODERATE|MISSENSE|Ctt/Ttt|L492F|495|EPHA8|protein_coding|CODING|ENST00000538803|exon_1_22915364_22916103 0/1:99:255,0,243 . . . 1 22923873 rs999765 G C NON_SYNONYMOUS_CODING EPHA8 MODERATE|MISSENSE|Gaa/Caa|E612Q|1005|EPHA8|protein_coding|CODING|ENST00000166244|exon_1_22923805_22923969 . . 0/1:99:215,0,133 . 1 23415541 . T G NON_SYNONYMOUS_CODING LUZP1 MODERATE|MISSENSE|gaA/gaC|E1026D|1076|LUZP1|protein_coding|CODING|ENST00000302291|exon_1_23410523_23415546 0/1:99:255,0,254 . . . 1 23415541 . T G NON_SYNONYMOUS_CODING LUZP1 MODERATE|MISSENSE|gaA/gaC|E1026D|1076|LUZP1|protein_coding|CODING|ENST00000374623|exon_1_23410516_23415546 0/1:99:255,0,254 . . . 1 23415541 . T G NON_SYNONYMOUS_CODING LUZP1 MODERATE|MISSENSE|gaA/gaC|E1026D|1076|LUZP1|protein_coding|CODING|ENST00000418342|exon_1_23410516_23415546 0/1:99:255,0,254 . . . 1 24151895 . A G NON_SYNONYMOUS_CODING HMGCL MODERATE|MISSENSE|aTg/aCg|M4T|254|HMGCL|protein_coding|CODING|ENST00000436439|exon_1_24151846_24151918 . . . 0/1:99:143,0,151 1 24151895 . A G NON_SYNONYMOUS_CODING HMGCL MODERATE|MISSENSE|aTg/aCg|M4T|325|HMGCL|protein_coding|CODING|ENST00000374490|exon_1_24151846_24151949 . . . 0/1:99:143,0,151 1 24392325 rs139328461 C T NON_SYNONYMOUS_CODING MYOM3 MODERATE|MISSENSE|aGg/aAg|R1199K|1214|MYOM3|protein_coding|CODING|ENST00000329601|exon_1_24392276_24392491 . . 1/1:99:255,87,0 . 1 24406535 rs35446243 G A NON_SYNONYMOUS_CODING MYOM3 MODERATE|MISSENSE|Cca/Tca|P853S|1214|MYOM3|protein_coding|CODING|ENST00000329601|exon_1_24406506_24406684 . 0/1:99:99,0,228 . . 1 24406535 rs35446243 G A NON_SYNONYMOUS_CODING MYOM3 MODERATE|MISSENSE|Cca/Tca|P853S|1437|MYOM3|protein_coding|CODING|ENST00000374434|exon_1_24406506_24406684 . 0/1:99:99,0,228 . . 1 24406535 rs35446243 G A NON_SYNONYMOUS_CODING MYOM3 MODERATE|MISSENSE|Cca/Tca|P854S|1440|MYOM3|protein_coding|CODING|ENST00000330966|exon_1_24406506_24406684 . 0/1:99:99,0,228 . . 1 24663184 rs34637004 T C NON_SYNONYMOUS_CODING GRHL3 MODERATE|MISSENSE|gTg/gCg|V114A|556|GRHL3|protein_coding|CODING|ENST00000356046|exon_1_24662972_24663317 . . 0/1:99:255,0,236 . 1 24663184 rs34637004 T C NON_SYNONYMOUS_CODING GRHL3 MODERATE|MISSENSE|gTg/gCg|V160A|602|GRHL3|protein_coding|CODING|ENST00000361548|exon_1_24662972_24663317 . . 0/1:99:255,0,236 . 1 24663184 rs34637004 T C NON_SYNONYMOUS_CODING GRHL3 MODERATE|MISSENSE|gTg/gCg|V160A|626|GRHL3|protein_coding|CODING|ENST00000350501|exon_1_24662972_24663317 . . 0/1:99:255,0,236 . 1 24663184 rs34637004 T C NON_SYNONYMOUS_CODING GRHL3 MODERATE|MISSENSE|gTg/gCg|V165A|607|GRHL3|protein_coding|CODING|ENST00000236255|exon_1_24662972_24663317 . . 0/1:99:255,0,236 . 1 24663184 rs34637004 T C NON_SYNONYMOUS_CODING GRHL3 MODERATE|MISSENSE|gTg/gCg|V67A|509|GRHL3|protein_coding|CODING|ENST00000342072|exon_1_24662972_24663317 . . 0/1:99:255,0,236 . 1 24671418 rs116396279 A G NON_SYNONYMOUS_CODING GRHL3 MODERATE|MISSENSE|aAc/aGc|N391S|509|GRHL3|protein_coding|CODING|ENST00000342072|exon_1_24671387_24671421 . . 0/1:99:224,0,175 . 1 24671418 rs116396279 A G NON_SYNONYMOUS_CODING GRHL3 MODERATE|MISSENSE|aAc/aGc|N438S|556|GRHL3|protein_coding|CODING|ENST00000356046|exon_1_24671387_24671421 . . 0/1:99:224,0,175 . 1 24671418 rs116396279 A G NON_SYNONYMOUS_CODING GRHL3 MODERATE|MISSENSE|aAc/aGc|N484S|602|GRHL3|protein_coding|CODING|ENST00000361548|exon_1_24671387_24671421 . . 0/1:99:224,0,175 . 1 24671418 rs116396279 A G NON_SYNONYMOUS_CODING GRHL3 MODERATE|MISSENSE|aAc/aGc|N484S|626|GRHL3|protein_coding|CODING|ENST00000350501|exon_1_24671387_24671421 . . 0/1:99:224,0,175 . 1 24671418 rs116396279 A G NON_SYNONYMOUS_CODING GRHL3 MODERATE|MISSENSE|aAc/aGc|N489S|607|GRHL3|protein_coding|CODING|ENST00000236255|exon_1_24671387_24671421 . . 0/1:99:224,0,175 . 1 25570081 rs1043879 T C NON_SYNONYMOUS_CODING C1orf63 MODERATE|MISSENSE|gAa/gGa|E239G|290|C1orf63|protein_coding|CODING|ENST00000243189|exon_1_25570041_25570124 . 0/1:99:255,0,255 . . 1 25570081 rs1043879 T C NON_SYNONYMOUS_CODING C1orf63 MODERATE|MISSENSE|gAa/gGa|E240G|291|C1orf63|protein_coding|CODING|ENST00000417642|exon_1_25570041_25570124 . 0/1:99:255,0,255 . . 1 25634143 rs2427766 T C NON_SYNONYMOUS_CODING RHD MODERATE|MISSENSE|cTc/cCc|L360P|431|RHD|protein_coding|CODING|ENST00000423810|exon_1_25634138_25634307 . 0/1:99:170,0,192 . 1/1:93:241,48,0 1 25634143 rs2427766 T C NON_SYNONYMOUS_CODING RHD MODERATE|MISSENSE|cTc/cCc|L360P|493|RHD|protein_coding|CODING|ENST00000342055|exon_1_25634138_25634307 . 0/1:99:170,0,192 . 1/1:93:241,48,0 1 25890247 rs41291058 C T NON_SYNONYMOUS_CODING LDLRAP1 MODERATE|MISSENSE|Cgg/Tgg|R238W|308|LDLRAP1|protein_coding|CODING|ENST00000374338|exon_1_25890152_25890282 . 0/1:99:161,0,209 . . 1 26131638 rs35019869 A G NON_SYNONYMOUS_CODING SEPN1 MODERATE|MISSENSE|Act/Gct|T103A|556|SEPN1|protein_coding|CODING|ENST00000354177|exon_1_26131633_26131766 . 0/1:99:246,0,159 . . 1 26131638 rs35019869 A G NON_SYNONYMOUS_CODING SEPN1 MODERATE|MISSENSE|Act/Gct|T103A|556|SEPN1|protein_coding|CODING|ENST00000374315|exon_1_26131633_26131766 . 0/1:99:246,0,159 . . 1 26131638 rs35019869 A G NON_SYNONYMOUS_CODING SEPN1 MODERATE|MISSENSE|Act/Gct|T137A|590|SEPN1|protein_coding|CODING|ENST00000361547|exon_1_26131633_26131766 . 0/1:99:246,0,159 . . 1 26161762 . G T NON_SYNONYMOUS_CODING C1orf135 MODERATE|MISSENSE|Cgt/Agt|R266S|357|C1orf135|protein_coding|CODING|ENST00000374298|exon_1_26160497_26162337 . . 0/1:99:165,0,255 . 1 26161762 . G T NON_SYNONYMOUS_CODING C1orf135 MODERATE|MISSENSE|Cgt/Agt|R266S|371|C1orf135|protein_coding|CODING|ENST00000538789|exon_1_26161513_26162337 . . 0/1:99:165,0,255 . 1 26384907 rs61749355 C T NON_SYNONYMOUS_CODING TRIM63 MODERATE|MISSENSE|Gag/Aag|E269K|353|TRIM63|protein_coding|CODING|ENST00000374272|exon_1_26384881_26385114 . 0/1:99:169,0,197 . . 1 26393843 rs140523053 G A NON_SYNONYMOUS_CODING TRIM63 MODERATE|MISSENSE|gCc/gTc|A48V|353|TRIM63|protein_coding|CODING|ENST00000374272|exon_1_26393827_26394124 . 0/1:99:255,0,254 . . 1 26515956 rs1045105 C A NON_SYNONYMOUS_CODING CNKSR1 MODERATE|MISSENSE|Cac/Aac|H429N|455|CNKSR1|protein_coding|CODING|ENST00000531191|exon_1_26515770_26516337 . . . 0/1:99:230,0,240 1 26515956 rs1045105 C A NON_SYNONYMOUS_CODING CNKSR1 MODERATE|MISSENSE|Cac/Aac|H687N|713|CNKSR1|protein_coding|CODING|ENST00000361530|exon_1_26515770_26516377 . . . 0/1:99:230,0,240 1 26515956 rs1045105 C A NON_SYNONYMOUS_CODING CNKSR1 MODERATE|MISSENSE|Cac/Aac|H694N|720|CNKSR1|protein_coding|CODING|ENST00000374253|exon_1_26515770_26516375 . . . 0/1:99:230,0,240 1 26517267 rs41284333 A G NON_SYNONYMOUS_CODING CATSPER4 MODERATE|MISSENSE|cAc/cGc|H50R|472|CATSPER4|protein_coding|CODING|ENST00000456354|exon_1_26517052_26517331 0/1:99:255,0,140 0/1:99:143,0,255 . . 1 26517267 rs41284333 A G NON_SYNONYMOUS_CODING CATSPER4 MODERATE|MISSENSE|cAc/cGc|H50R|482|CATSPER4|protein_coding|CODING|ENST00000338855|exon_1_26517052_26517331 0/1:99:255,0,140 0/1:99:143,0,255 . . 1 26517794 rs11247866 A G NON_SYNONYMOUS_CODING CATSPER4 MODERATE|MISSENSE|cAg/cGg|Q77R|472|CATSPER4|protein_coding|CODING|ENST00000456354|exon_1_26517778_26517921 0/1:86:83,0,201 0/1:99:187,0,255 . . 1 26517794 rs11247866 A G NON_SYNONYMOUS_CODING CATSPER4 MODERATE|MISSENSE|cAg/cGg|Q77R|482|CATSPER4|protein_coding|CODING|ENST00000338855|exon_1_26517778_26517921 0/1:86:83,0,201 0/1:99:187,0,255 . . 1 26526439 rs17257155 A G NON_SYNONYMOUS_CODING CATSPER4 MODERATE|MISSENSE|Atc/Gtc|I293V|472|CATSPER4|protein_coding|CODING|ENST00000456354|exon_1_26526375_26526549 0/1:99:229,0,255 0/1:99:221,0,248 . . 1 26526439 rs17257155 A G NON_SYNONYMOUS_CODING CATSPER4 MODERATE|MISSENSE|Atc/Gtc|I293V|482|CATSPER4|protein_coding|CODING|ENST00000338855|exon_1_26526375_26526549 0/1:99:229,0,255 0/1:99:221,0,248 . . 1 26606291 rs61775082 C T NON_SYNONYMOUS_CODING SH3BGRL3 MODERATE|MISSENSE|Ccc/Tcc|P16S|226|SH3BGRL3|protein_coding|CODING|ENST00000374243|exon_1_26605667_26606332 0/1:99:205,0,170 . . . 1 26606488 . C G NON_SYNONYMOUS_CODING SH3BGRL3 MODERATE|MISSENSE|Ccc/Gcc|P81A|226|SH3BGRL3|protein_coding|CODING|ENST00000374243|exon_1_26606335_26606694 . . . 0/1:99:171,0,214 1 26672074 rs116950975 T C NON_SYNONYMOUS_CODING AIM1L MODERATE|MISSENSE|Acc/Gcc|T359A|407|AIM1L|protein_coding|CODING|ENST00000538018|exon_1_26671979_26673203 0/1:99:235,0,241 . . . 1 26672074 rs116950975 T C NON_SYNONYMOUS_CODING AIM1L MODERATE|MISSENSE|Acc/Gcc|T359A|465|AIM1L|protein_coding|CODING|ENST00000475866|exon_1_26671751_26673203 0/1:99:235,0,241 . . . 1 28931901 rs144276665 T A NON_SYNONYMOUS_CODING TAF12 MODERATE|MISSENSE|Aca/Tca|T145S|161|TAF12|protein_coding|CODING|ENST00000263974|exon_1_28931884_28931972 . . 0/1:99:206,0,255 . 1 28931901 rs144276665 T A NON_SYNONYMOUS_CODING TAF12 MODERATE|MISSENSE|Aca/Tca|T145S|161|TAF12|protein_coding|CODING|ENST00000373824|exon_1_28931884_28931972 . . 0/1:99:206,0,255 . 1 31349736 rs200858617 G A NON_SYNONYMOUS_CODING SDC3 MODERATE|MISSENSE|aCa/aTa|T120I|384|SDC3|protein_coding|CODING|ENST00000336798|exon_1_31349399_31351587 0/1:99:176,0,207 . . . 1 31349736 rs200858617 G A NON_SYNONYMOUS_CODING SDC3 MODERATE|MISSENSE|aCa/aTa|T178I|442|SDC3|protein_coding|CODING|ENST00000339394|exon_1_31349399_31350012 0/1:99:176,0,207 . . . 1 31902279 rs34728687 G A NON_SYNONYMOUS_CODING SERINC2 MODERATE|MISSENSE|Ggc/Agc|G303S|455|SERINC2|protein_coding|CODING|ENST00000373709|exon_1_31902244_31902385 . . 0/1:99:248,0,226 0/1:99:148,0,155 1 31902279 rs34728687 G A NON_SYNONYMOUS_CODING SERINC2 MODERATE|MISSENSE|Ggc/Agc|G307S|459|SERINC2|protein_coding|CODING|ENST00000536384|exon_1_31902244_31902385 . . 0/1:99:248,0,226 0/1:99:148,0,155 1 31902279 rs34728687 G A NON_SYNONYMOUS_CODING SERINC2 MODERATE|MISSENSE|Ggc/Agc|G307S|459|SERINC2|protein_coding|CODING|ENST00000536859|exon_1_31902244_31902385 . . 0/1:99:248,0,226 0/1:99:148,0,155 1 31902279 rs34728687 G A NON_SYNONYMOUS_CODING SERINC2 MODERATE|MISSENSE|Ggc/Agc|G312S|464|SERINC2|protein_coding|CODING|ENST00000373710|exon_1_31902244_31902385 . . 0/1:99:248,0,226 0/1:99:148,0,155 1 32204476 rs112847200 G A NON_SYNONYMOUS_CODING BAI2 MODERATE|MISSENSE|cCa/cTa|P495L|1175|BAI2|protein_coding|CODING|ENST00000440175|exon_1_32204433_32204538 . . 0/1:99:195,0,255 . 1 32204476 rs112847200 G A NON_SYNONYMOUS_CODING BAI2 MODERATE|MISSENSE|cCa/cTa|P786L|1466|BAI2|protein_coding|CODING|ENST00000398542|exon_1_32204433_32204538 . . 0/1:99:195,0,255 . 1 32204476 rs112847200 G A NON_SYNONYMOUS_CODING BAI2 MODERATE|MISSENSE|cCa/cTa|P786L|1499|BAI2|protein_coding|CODING|ENST00000398547|exon_1_32204433_32204538 . . 0/1:99:195,0,255 . 1 32204476 rs112847200 G A NON_SYNONYMOUS_CODING BAI2 MODERATE|MISSENSE|cCa/cTa|P791L|846|BAI2|protein_coding|CODING|ENST00000420125|exon_1_32204433_32204538 . . 0/1:99:195,0,255 . 1 32204476 rs112847200 G A NON_SYNONYMOUS_CODING BAI2 MODERATE|MISSENSE|cCa/cTa|P801L|1500|BAI2|protein_coding|CODING|ENST00000398556|exon_1_32204433_32204538 . . 0/1:99:195,0,255 . 1 32204476 rs112847200 G A NON_SYNONYMOUS_CODING BAI2 MODERATE|MISSENSE|cCa/cTa|P841L|1554|BAI2|protein_coding|CODING|ENST00000398538|exon_1_32204433_32204538 . . 0/1:99:195,0,255 . 1 32204476 rs112847200 G A NON_SYNONYMOUS_CODING BAI2 MODERATE|MISSENSE|cCa/cTa|P853L|1551|BAI2|protein_coding|CODING|ENST00000257070|exon_1_32204433_32204538 . . 0/1:99:195,0,255 . 1 32204476 rs112847200 G A NON_SYNONYMOUS_CODING BAI2 MODERATE|MISSENSE|cCa/cTa|P853L|1551|BAI2|protein_coding|CODING|ENST00000527361|exon_1_32204433_32204538 . . 0/1:99:195,0,255 . 1 32204476 rs112847200 G A NON_SYNONYMOUS_CODING BAI2 MODERATE|MISSENSE|cCa/cTa|P853L|1584|BAI2|protein_coding|CODING|ENST00000373655|exon_1_32204433_32204538 . . 0/1:99:195,0,255 . 1 32204476 rs112847200 G A NON_SYNONYMOUS_CODING BAI2 MODERATE|MISSENSE|cCa/cTa|P853L|1585|BAI2|protein_coding|CODING|ENST00000373658|exon_1_32204433_32204538 . . 0/1:99:195,0,255 . 1 32259445 rs112565608 C T NON_SYNONYMOUS_CODING SPOCD1 MODERATE|MISSENSE|Ggg/Agg|G156R|269|SPOCD1|protein_coding|CODING|ENST00000449266|exon_1_32259101_32259498 . . 0/1:99:160,0,195 . 1 32259445 rs112565608 C T NON_SYNONYMOUS_CODING SPOCD1 MODERATE|MISSENSE|Ggg/Agg|G210R|343|SPOCD1|protein_coding|CODING|ENST00000294514|exon_1_32259401_32259498 . . 0/1:99:160,0,195 . 1 32259445 rs112565608 C T NON_SYNONYMOUS_CODING SPOCD1 MODERATE|MISSENSE|Ggg/Agg|G249R|639|SPOCD1|protein_coding|CODING|ENST00000452755|exon_1_32259348_32259498 . . 0/1:99:160,0,195 . 1 32259445 rs112565608 C T NON_SYNONYMOUS_CODING SPOCD1 MODERATE|MISSENSE|Ggg/Agg|G306R|696|SPOCD1|protein_coding|CODING|ENST00000257100|exon_1_32259348_32259498 . . 0/1:99:160,0,195 . 1 32259445 rs112565608 C T NON_SYNONYMOUS_CODING SPOCD1 MODERATE|MISSENSE|Ggg/Agg|G813R|1203|SPOCD1|protein_coding|CODING|ENST00000533231|exon_1_32259348_32259498 . . 0/1:99:160,0,195 . 1 32259445 rs112565608 C T NON_SYNONYMOUS_CODING SPOCD1 MODERATE|MISSENSE|Ggg/Agg|G813R|1216|SPOCD1|protein_coding|CODING|ENST00000360482|exon_1_32259348_32259498 . . 0/1:99:160,0,195 . 1 32265440 . C T NON_SYNONYMOUS_CODING SPOCD1 MODERATE|MISSENSE|Gat/Aat|D526N|544|SPOCD1|protein_coding|CODING|ENST00000373648|exon_1_32265410_32265464 . . 0/1:99:177,0,231 . 1 32265440 . C T NON_SYNONYMOUS_CODING SPOCD1 MODERATE|MISSENSE|Gat/Aat|D585N|1203|SPOCD1|protein_coding|CODING|ENST00000533231|exon_1_32265410_32265464 . . 0/1:99:177,0,231 . 1 32265440 . C T NON_SYNONYMOUS_CODING SPOCD1 MODERATE|MISSENSE|Gat/Aat|D585N|1216|SPOCD1|protein_coding|CODING|ENST00000360482|exon_1_32265410_32265464 . . 0/1:99:177,0,231 . 1 32265440 . C T NON_SYNONYMOUS_CODING SPOCD1 MODERATE|MISSENSE|Gat/Aat|D6N|42|SPOCD1|protein_coding|CODING|ENST00000529396|exon_1_32265410_32265464 . . 0/1:99:177,0,231 . 1 32265440 . C T NON_SYNONYMOUS_CODING SPOCD1 MODERATE|MISSENSE|Gat/Aat|D78N|696|SPOCD1|protein_coding|CODING|ENST00000257100|exon_1_32265410_32265464 . . 0/1:99:177,0,231 . 1 32265440 . C T NON_SYNONYMOUS_CODING SPOCD1 MODERATE|MISSENSE|Gat/Aat|D78N|86|SPOCD1|protein_coding|CODING|ENST00000528791|exon_1_32265410_32265464 . . 0/1:99:177,0,231 . 1 32279871 rs112651926 T C NON_SYNONYMOUS_CODING SPOCD1 MODERATE|MISSENSE|cAg/cGg|Q355R|1203|SPOCD1|protein_coding|CODING|ENST00000533231|exon_1_32279552_32280976 . . 0/1:99:177,0,182 . 1 32279871 rs112651926 T C NON_SYNONYMOUS_CODING SPOCD1 MODERATE|MISSENSE|cAg/cGg|Q355R|1216|SPOCD1|protein_coding|CODING|ENST00000360482|exon_1_32279552_32280973 . . 0/1:99:177,0,182 . 1 32279871 rs112651926 T C NON_SYNONYMOUS_CODING SPOCD1 MODERATE|MISSENSE|cAg/cGg|Q355R|544|SPOCD1|protein_coding|CODING|ENST00000373648|exon_1_32279552_32280973 . . 0/1:99:177,0,182 . 1 32279890 rs112752591 T C NON_SYNONYMOUS_CODING SPOCD1 MODERATE|MISSENSE|Act/Gct|T349A|1203|SPOCD1|protein_coding|CODING|ENST00000533231|exon_1_32279552_32280976 . . 0/1:99:108,0,238 . 1 32279890 rs112752591 T C NON_SYNONYMOUS_CODING SPOCD1 MODERATE|MISSENSE|Act/Gct|T349A|1216|SPOCD1|protein_coding|CODING|ENST00000360482|exon_1_32279552_32280973 . . 0/1:99:108,0,238 . 1 32279890 rs112752591 T C NON_SYNONYMOUS_CODING SPOCD1 MODERATE|MISSENSE|Act/Gct|T349A|544|SPOCD1|protein_coding|CODING|ENST00000373648|exon_1_32279552_32280973 . . 0/1:99:108,0,238 . 1 32280724 rs112754928 G A NON_SYNONYMOUS_CODING SPOCD1 MODERATE|MISSENSE|Cgg/Tgg|R71W|1203|SPOCD1|protein_coding|CODING|ENST00000533231|exon_1_32279552_32280976 . . 0/1:99:217,0,248 . 1 32280724 rs112754928 G A NON_SYNONYMOUS_CODING SPOCD1 MODERATE|MISSENSE|Cgg/Tgg|R71W|1216|SPOCD1|protein_coding|CODING|ENST00000360482|exon_1_32279552_32280973 . . 0/1:99:217,0,248 . 1 32280724 rs112754928 G A NON_SYNONYMOUS_CODING SPOCD1 MODERATE|MISSENSE|Cgg/Tgg|R71W|544|SPOCD1|protein_coding|CODING|ENST00000373648|exon_1_32279552_32280973 . . 0/1:99:217,0,248 . 1 32667609 rs1407134 C T NON_SYNONYMOUS_CODING CCDC28B MODERATE|MISSENSE|Cgg/Tgg|R25W|200|CCDC28B|protein_coding|CODING|ENST00000373602|exon_1_32667514_32667700 . . 0/1:99:240,0,202 . 1 32667609 rs1407134 C T NON_SYNONYMOUS_CODING CCDC28B MODERATE|MISSENSE|Cgg/Tgg|R25W|241|CCDC28B|protein_coding|CODING|ENST00000421922|exon_1_32667514_32667700 . . 0/1:99:240,0,202 . 1 32842319 rs34885668 T C NON_SYNONYMOUS_CODING BSDC1 MODERATE|MISSENSE|Ata/Gta|I139V|335|BSDC1|protein_coding|CODING|ENST00000526031|exon_1_32841863_32842342 . . . 0/1:99:255,0,164 1 32842319 rs34885668 T C NON_SYNONYMOUS_CODING BSDC1 MODERATE|MISSENSE|Ata/Gta|I168V|176|BSDC1|protein_coding|CODING|ENST00000527163|exon_1_32842288_32842342 . . . 0/1:99:255,0,164 1 32842319 rs34885668 T C NON_SYNONYMOUS_CODING BSDC1 MODERATE|MISSENSE|Ata/Gta|I173V|369|BSDC1|protein_coding|CODING|ENST00000413080|exon_1_32841863_32842342 . . . 0/1:99:255,0,164 1 32842319 rs34885668 T C NON_SYNONYMOUS_CODING BSDC1 MODERATE|MISSENSE|Ata/Gta|I178V|374|BSDC1|protein_coding|CODING|ENST00000419121|exon_1_32841863_32842342 . . . 0/1:99:255,0,164 1 32842319 rs34885668 T C NON_SYNONYMOUS_CODING BSDC1 MODERATE|MISSENSE|Ata/Gta|I234V|422|BSDC1|protein_coding|CODING|ENST00000449308|exon_1_32841863_32842342 . . . 0/1:99:255,0,164 1 32842319 rs34885668 T C NON_SYNONYMOUS_CODING BSDC1 MODERATE|MISSENSE|Ata/Gta|I234V|430|BSDC1|protein_coding|CODING|ENST00000455895|exon_1_32841863_32842342 . . . 0/1:99:255,0,164 1 32842319 rs34885668 T C NON_SYNONYMOUS_CODING BSDC1 MODERATE|MISSENSE|Ata/Gta|I251V|447|BSDC1|protein_coding|CODING|ENST00000446293|exon_1_32841863_32842342 . . . 0/1:99:255,0,164 1 32842319 rs34885668 T C NON_SYNONYMOUS_CODING BSDC1 MODERATE|MISSENSE|Ata/Gta|I251V|474|BSDC1|protein_coding|CODING|ENST00000341071|exon_1_32841863_32842342 . . . 0/1:99:255,0,164 1 32936700 rs200136968 G A NON_SYNONYMOUS_CODING ZBTB8B MODERATE|MISSENSE|Gaa/Aaa|E159K|495|ZBTB8B|protein_coding|CODING|ENST00000415091|exon_1_32936185_32937216 . 0/1:99:224,0,152 . . 1 33361287 rs10914632 G A NON_SYNONYMOUS_CODING TMEM54 MODERATE|MISSENSE|Ctc/Ttc|L110F|222|TMEM54|protein_coding|CODING|ENST00000373463|exon_1_33361156_33361344 . 0/1:99:209,0,255 . . 1 34035114 rs34047235 T C NON_SYNONYMOUS_CODING CSMD2 MODERATE|MISSENSE|aAt/aGt|N2664S|3631|CSMD2|protein_coding|CODING|ENST00000373381|exon_1_34034974_34035147 . . . 0/1:99:168,0,255 1 35227466 rs3738346 A C NON_SYNONYMOUS_CODING GJB4 MODERATE|MISSENSE|gAa/gCa|E204A|266|GJB4|protein_coding|CODING|ENST00000339480|exon_1_35226534_35229325 0/1:99:255,0,255 . . . 1 35321554 . C A NON_SYNONYMOUS_CODING C1orf212 MODERATE|MISSENSE|Gtt/Ttt|V9F|92|C1orf212|protein_coding|CODING|ENST00000417239|exon_1_35321290_35321583 0/1:99:171,0,183 . . . 1 35321554 . C A NON_SYNONYMOUS_CODING C1orf212 MODERATE|MISSENSE|Gtt/Ttt|V9F|92|C1orf212|protein_coding|CODING|ENST00000423898|exon_1_35320950_35321583 0/1:99:171,0,183 . . . 1 35321554 . C A NON_SYNONYMOUS_CODING C1orf212 MODERATE|MISSENSE|Gtt/Ttt|V9F|92|C1orf212|protein_coding|CODING|ENST00000446026|exon_1_35320651_35321583 0/1:99:171,0,183 . . . 1 35321554 . C A NON_SYNONYMOUS_CODING C1orf212 MODERATE|MISSENSE|Gtt/Ttt|V9F|92|C1orf212|protein_coding|CODING|ENST00000456842|exon_1_35320770_35321583 0/1:99:171,0,183 . . . 1 35321554 . C A NON_SYNONYMOUS_CODING C1orf212 MODERATE|MISSENSE|Gtt/Ttt|V9F|92|C1orf212|protein_coding|CODING|ENST00000521580|exon_1_35319391_35321583 0/1:99:171,0,183 . . . 1 36202585 rs35490896 G A NON_SYNONYMOUS_CODING CLSPN MODERATE|MISSENSE|tCa/tTa|S1216L|1275|CLSPN|protein_coding|CODING|ENST00000373220|exon_1_36202515_36202676 . 0/1:99:199,0,255 . . 1 36202585 rs35490896 G A NON_SYNONYMOUS_CODING CLSPN MODERATE|MISSENSE|tCa/tTa|S1227L|1286|CLSPN|protein_coding|CODING|ENST00000520551|exon_1_36202515_36202676 . 0/1:99:199,0,255 . . 1 36202585 rs35490896 G A NON_SYNONYMOUS_CODING CLSPN MODERATE|MISSENSE|tCa/tTa|S1280L|1332|CLSPN|protein_coding|CODING|ENST00000251195|exon_1_36202515_36202676 . 0/1:99:199,0,255 . . 1 36202585 rs35490896 G A NON_SYNONYMOUS_CODING CLSPN MODERATE|MISSENSE|tCa/tTa|S1280L|1339|CLSPN|protein_coding|CODING|ENST00000318121|exon_1_36202515_36202676 . 0/1:99:199,0,255 . . 1 36203659 . TTTCTTCTTCTTCTTC TTTCTTCTTCTTC CODON_DELETION CLSPN MODERATE||gaa/-|E1131-|1275|CLSPN|protein_coding|CODING|ENST00000373220|exon_1_36203593_36203698 . 0/1:99:255,0,255 . . 1 36203659 . TTTCTTCTTCTTCTTC TTTCTTCTTCTTC CODON_DELETION CLSPN MODERATE||gaa/-|E1142-|1286|CLSPN|protein_coding|CODING|ENST00000520551|exon_1_36203593_36203698 . 0/1:99:255,0,255 . . 1 36203659 . TTTCTTCTTCTTCTTC TTTCTTCTTCTTC CODON_DELETION CLSPN MODERATE||gaa/-|E1195-|1332|CLSPN|protein_coding|CODING|ENST00000251195|exon_1_36203593_36203698 . 0/1:99:255,0,255 . . 1 36203659 . TTTCTTCTTCTTCTTC TTTCTTCTTCTTC CODON_DELETION CLSPN MODERATE||gaa/-|E1195-|1339|CLSPN|protein_coding|CODING|ENST00000318121|exon_1_36203593_36203698 . 0/1:99:255,0,255 . . 1 36636835 rs2296266 C T NON_SYNONYMOUS_CODING MAP7D1 MODERATE|MISSENSE|Cgg/Tgg|R104W|803|MAP7D1|protein_coding|CODING|ENST00000316156|exon_1_36636572_36636916 0/1:99:243,0,156 . . . 1 36636835 rs2296266 C T NON_SYNONYMOUS_CODING MAP7D1 MODERATE|MISSENSE|Cgg/Tgg|R104W|808|MAP7D1|protein_coding|CODING|ENST00000373150|exon_1_36636572_36636916 0/1:99:243,0,156 . . . 1 36636835 rs2296266 C T NON_SYNONYMOUS_CODING MAP7D1 MODERATE|MISSENSE|Cgg/Tgg|R104W|841|MAP7D1|protein_coding|CODING|ENST00000373151|exon_1_36636572_36636916 0/1:99:243,0,156 . . . 1 36636835 rs2296266 C T NON_SYNONYMOUS_CODING MAP7D1 MODERATE|MISSENSE|Cgg/Tgg|R65W|139|MAP7D1|protein_coding|CODING|ENST00000530729|exon_1_36636572_36636916 0/1:99:243,0,156 . . . 1 36636835 rs2296266 C T NON_SYNONYMOUS_CODING MAP7D1 MODERATE|MISSENSE|Cgg/Tgg|R65W|243|MAP7D1|protein_coding|CODING|ENST00000429533|exon_1_36636572_36636916 0/1:99:243,0,156 . . . 1 36643700 . GAGAAG GAG CODON_DELETION MAP7D1 MODERATE||aag/-|K500-|803|MAP7D1|protein_coding|CODING|ENST00000316156|exon_1_36643474_36643802 . 0/1:99:219,0,255 . . 1 36643700 . GAGAAG GAG CODON_DELETION MAP7D1 MODERATE||aag/-|K505-|808|MAP7D1|protein_coding|CODING|ENST00000373150|exon_1_36643474_36643802 . 0/1:99:219,0,255 . . 1 36643700 . GAGAAG GAG CODON_DELETION MAP7D1 MODERATE||aag/-|K537-|841|MAP7D1|protein_coding|CODING|ENST00000373151|exon_1_36643474_36643802 . 0/1:99:219,0,255 . . 1 36643700 . GAGAAG GAG CODON_DELETION MAP7D1 MODERATE||aag/-|K83-|377|MAP7D1|protein_coding|CODING|ENST00000373148|exon_1_36643474_36643802 . 0/1:99:219,0,255 . . 1 37949052 rs17849897 G A NON_SYNONYMOUS_CODING ZC3H12A MODERATE|MISSENSE|gGc/gAc|G547D|599|ZC3H12A|protein_coding|CODING|ENST00000373082|exon_1_37948338_37949817 . . 0/1:99:167,0,216 . 1 37949052 rs17849897 G A NON_SYNONYMOUS_CODING ZC3H12A MODERATE|MISSENSE|gGc/gAc|G547D|599|ZC3H12A|protein_coding|CODING|ENST00000373087|exon_1_37948338_37949978 . . 0/1:99:167,0,216 . 1 38079517 rs36043533 T G NON_SYNONYMOUS_CODING RSPO1 MODERATE|MISSENSE|Aag/Cag|K135Q|236|RSPO1|protein_coding|CODING|ENST00000373059|exon_1_38079376_38079564 . 0/1:99:219,0,187 . . 1 38079517 rs36043533 T G NON_SYNONYMOUS_CODING RSPO1 MODERATE|MISSENSE|Aag/Cag|K162Q|263|RSPO1|protein_coding|CODING|ENST00000356545|exon_1_38079376_38079564 . 0/1:99:219,0,187 . . 1 38079517 rs36043533 T G NON_SYNONYMOUS_CODING RSPO1 MODERATE|MISSENSE|Aag/Cag|K162Q|263|RSPO1|protein_coding|CODING|ENST00000401068|exon_1_38079376_38079564 . 0/1:99:219,0,187 . . 1 38079517 rs36043533 T G NON_SYNONYMOUS_CODING RSPO1 MODERATE|MISSENSE|Aag/Cag|K162Q|263|RSPO1|protein_coding|CODING|ENST00000401069|exon_1_38079376_38079564 . 0/1:99:219,0,187 . . 1 38197176 rs182568246 G A NON_SYNONYMOUS_CODING EPHA10 MODERATE|MISSENSE|Cgc/Tgc|R19C|155|EPHA10|protein_coding|CODING|ENST00000540011|exon_1_38197083_38197254 0/1:99:254,0,213 . . . 1 38197176 rs182568246 G A NON_SYNONYMOUS_CODING EPHA10 MODERATE|MISSENSE|Cgc/Tgc|R19C|543|EPHA10|protein_coding|CODING|ENST00000330210|exon_1_38197083_38197254 0/1:99:254,0,213 . . . 1 38197176 rs182568246 G A NON_SYNONYMOUS_CODING EPHA10 MODERATE|MISSENSE|Cgc/Tgc|R524C|1008|EPHA10|protein_coding|CODING|ENST00000373048|exon_1_38197083_38197254 0/1:99:254,0,213 . . . 1 38197176 rs182568246 G A NON_SYNONYMOUS_CODING EPHA10 MODERATE|MISSENSE|Cgc/Tgc|R524C|1014|EPHA10|protein_coding|CODING|ENST00000427468|exon_1_38197083_38197254 0/1:99:254,0,213 . . . 1 38227268 rs56276182 G T NON_SYNONYMOUS_CODING EPHA10 MODERATE|MISSENSE|aCg/aAg|T220K|1008|EPHA10|protein_coding|CODING|ENST00000373048|exon_1_38227077_38227755 0/1:99:191,0,212 . . . 1 38227268 rs56276182 G T NON_SYNONYMOUS_CODING EPHA10 MODERATE|MISSENSE|aCg/aAg|T220K|1014|EPHA10|protein_coding|CODING|ENST00000427468|exon_1_38227077_38227755 0/1:99:191,0,212 . . . 1 38227268 rs56276182 G T NON_SYNONYMOUS_CODING EPHA10 MODERATE|MISSENSE|aCg/aAg|T220K|295|EPHA10|protein_coding|CODING|ENST00000319637|exon_1_38225944_38227755 0/1:99:191,0,212 . . . 1 38397423 rs199551269 C G NON_SYNONYMOUS_CODING INPP5B MODERATE|MISSENSE|Ggg/Cgg|G232R|319|INPP5B|protein_coding|CODING|ENST00000373021|exon_1_38394209_38397725 . . . 0/1:65:62,0,171 1 38397423 rs199551269 C G NON_SYNONYMOUS_CODING INPP5B MODERATE|MISSENSE|Ggg/Cgg|G232R|828|INPP5B|protein_coding|CODING|ENST00000373029|exon_1_38397345_38397725 . . . 0/1:65:62,0,171 1 38397423 rs199551269 C G NON_SYNONYMOUS_CODING INPP5B MODERATE|MISSENSE|Ggg/Cgg|G232R|993|INPP5B|protein_coding|CODING|ENST00000373023|exon_1_38397345_38397725 . . . 0/1:65:62,0,171 1 38397423 rs199551269 C G NON_SYNONYMOUS_CODING INPP5B MODERATE|MISSENSE|Ggg/Cgg|G232R|993|INPP5B|protein_coding|CODING|ENST00000373026|exon_1_38397345_38397725 . . . 0/1:65:62,0,171 1 38512308 . GGCCGCCGCCGCCGCCGCCGCCGCCGC GGCCGCCGCCGCCGCCGCCGCCGCCGCCGC CODON_CHANGE_PLUS_CODON_INSERTION POU3F1 MODERATE||gcc/gcGCGc|A27AR|451|POU3F1|protein_coding|CODING|ENST00000373012|exon_1_38509523_38512450 . 0/1:65:62,0,95 . . 1 39763365 rs148207245 G T NON_SYNONYMOUS_CODING MACF1 MODERATE|MISSENSE|tGt/tTt|C773F|1374|MACF1|protein_coding|CODING|ENST00000524432|exon_1_39763292_39763417 . . 0/1:99:238,0,255 . 1 39763365 rs148207245 G T NON_SYNONYMOUS_CODING MACF1 MODERATE|MISSENSE|tGt/tTt|C810F|7555|MACF1|protein_coding|CODING|ENST00000564288|exon_1_39763292_39763417 . . 0/1:99:238,0,255 . 1 39763365 rs148207245 G T NON_SYNONYMOUS_CODING MACF1 MODERATE|MISSENSE|tGt/tTt|C815F|5300|MACF1|protein_coding|CODING|ENST00000539005|exon_1_39763292_39763417 . . 0/1:99:238,0,255 . 1 39763365 rs148207245 G T NON_SYNONYMOUS_CODING MACF1 MODERATE|MISSENSE|tGt/tTt|C815F|5430|MACF1|protein_coding|CODING|ENST00000317713|exon_1_39763292_39763417 . . 0/1:99:238,0,255 . 1 39763365 rs148207245 G T NON_SYNONYMOUS_CODING MACF1 MODERATE|MISSENSE|tGt/tTt|C815F|5430|MACF1|protein_coding|CODING|ENST00000361689|exon_1_39763292_39763417 . . 0/1:99:238,0,255 . 1 39763365 rs148207245 G T NON_SYNONYMOUS_CODING MACF1 MODERATE|MISSENSE|tGt/tTt|C815F|5430|MACF1|protein_coding|CODING|ENST00000545844|exon_1_39763292_39763417 . . 0/1:99:238,0,255 . 1 39763365 rs148207245 G T NON_SYNONYMOUS_CODING MACF1 MODERATE|MISSENSE|tGt/tTt|C815F|7388|MACF1|protein_coding|CODING|ENST00000372915|exon_1_39763292_39763417 . . 0/1:99:238,0,255 . 1 39763365 rs148207245 G T NON_SYNONYMOUS_CODING MACF1 MODERATE|MISSENSE|tGt/tTt|C847F|7592|MACF1|protein_coding|CODING|ENST00000567887|exon_1_39763292_39763417 . . 0/1:99:238,0,255 . 1 39763365 rs148207245 G T NON_SYNONYMOUS_CODING MACF1 MODERATE|MISSENSE|tGt/tTt|C964F|2027|MACF1|protein_coding|CODING|ENST00000530262|exon_1_39763292_39763417 . . 0/1:99:238,0,255 . 1 39763365 rs148207245 G T NON_SYNONYMOUS_CODING MACF1 MODERATE|MISSENSE|tGt/tTt|C975F|1062|MACF1|protein_coding|CODING|ENST00000372900|exon_1_39763292_39763417 . . 0/1:99:238,0,255 . 1 39798946 rs41270805 T C NON_SYNONYMOUS_CODING MACF1 MODERATE|MISSENSE|aTg/aCg|M2229T|7555|MACF1|protein_coding|CODING|ENST00000564288|exon_1_39796875_39802325 . 0/1:99:255,0,255 . . 1 39798946 rs41270805 T C NON_SYNONYMOUS_CODING MACF1 MODERATE|MISSENSE|aTg/aCg|M2234T|7388|MACF1|protein_coding|CODING|ENST00000372915|exon_1_39796875_39802325 . 0/1:99:255,0,255 . . 1 39798946 rs41270805 T C NON_SYNONYMOUS_CODING MACF1 MODERATE|MISSENSE|aTg/aCg|M2266T|7592|MACF1|protein_coding|CODING|ENST00000567887|exon_1_39796875_39802325 . 0/1:99:255,0,255 . . 1 39798946 rs41270805 T C NON_SYNONYMOUS_CODING MACF1 MODERATE|MISSENSE|aTg/aCg|M669T|5938|MACF1|protein_coding|CODING|ENST00000289893|exon_1_39796810_39802325 . 0/1:99:255,0,255 . . 1 39799912 rs75770915 C T NON_SYNONYMOUS_CODING MACF1 MODERATE|MISSENSE|aCg/aTg|T2551M|7555|MACF1|protein_coding|CODING|ENST00000564288|exon_1_39796875_39802325 0/1:99:255,0,255 . . . 1 39799912 rs75770915 C T NON_SYNONYMOUS_CODING MACF1 MODERATE|MISSENSE|aCg/aTg|T2556M|7388|MACF1|protein_coding|CODING|ENST00000372915|exon_1_39796875_39802325 0/1:99:255,0,255 . . . 1 39799912 rs75770915 C T NON_SYNONYMOUS_CODING MACF1 MODERATE|MISSENSE|aCg/aTg|T2588M|7592|MACF1|protein_coding|CODING|ENST00000567887|exon_1_39796875_39802325 0/1:99:255,0,255 . . . 1 39799912 rs75770915 C T NON_SYNONYMOUS_CODING MACF1 MODERATE|MISSENSE|aCg/aTg|T991M|5938|MACF1|protein_coding|CODING|ENST00000289893|exon_1_39796810_39802325 0/1:99:255,0,255 . . . 1 39833826 rs145646053 A T NON_SYNONYMOUS_CODING MACF1 MODERATE|MISSENSE|Aat/Tat|N2198Y|5300|MACF1|protein_coding|CODING|ENST00000539005|exon_1_39833820_39833986 0/1:99:255,0,151 . . . 1 39833826 rs145646053 A T NON_SYNONYMOUS_CODING MACF1 MODERATE|MISSENSE|Aat/Tat|N2198Y|5430|MACF1|protein_coding|CODING|ENST00000317713|exon_1_39833820_39833986 0/1:99:255,0,151 . . . 1 39833826 rs145646053 A T NON_SYNONYMOUS_CODING MACF1 MODERATE|MISSENSE|Aat/Tat|N2198Y|5430|MACF1|protein_coding|CODING|ENST00000361689|exon_1_39833820_39833986 0/1:99:255,0,151 . . . 1 39833826 rs145646053 A T NON_SYNONYMOUS_CODING MACF1 MODERATE|MISSENSE|Aat/Tat|N2198Y|5430|MACF1|protein_coding|CODING|ENST00000545844|exon_1_39833820_39833986 0/1:99:255,0,151 . . . 1 39833826 rs145646053 A T NON_SYNONYMOUS_CODING MACF1 MODERATE|MISSENSE|Aat/Tat|N2700Y|5938|MACF1|protein_coding|CODING|ENST00000289893|exon_1_39833820_39833986 0/1:99:255,0,151 . . . 1 39833826 rs145646053 A T NON_SYNONYMOUS_CODING MACF1 MODERATE|MISSENSE|Aat/Tat|N4260Y|7555|MACF1|protein_coding|CODING|ENST00000564288|exon_1_39833820_39833986 0/1:99:255,0,151 . . . 1 39833826 rs145646053 A T NON_SYNONYMOUS_CODING MACF1 MODERATE|MISSENSE|Aat/Tat|N4265Y|7388|MACF1|protein_coding|CODING|ENST00000372915|exon_1_39833820_39833986 0/1:99:255,0,151 . . . 1 39833826 rs145646053 A T NON_SYNONYMOUS_CODING MACF1 MODERATE|MISSENSE|Aat/Tat|N4297Y|7592|MACF1|protein_coding|CODING|ENST00000567887|exon_1_39833820_39833986 0/1:99:255,0,151 . . . 1 39876573 rs74607331 A C NON_SYNONYMOUS_CODING KIAA0754 MODERATE|MISSENSE|ttA/ttC|L76F|1291|KIAA0754|protein_coding|CODING|ENST00000530275|exon_1_39876151_39882154 . . . 0/1:99:255,0,255 1 39878815 rs1746842 A G NON_SYNONYMOUS_CODING KIAA0754 MODERATE|MISSENSE|Att/Gtt|I824V|1291|KIAA0754|protein_coding|CODING|ENST00000530275|exon_1_39876151_39882154 0/1:99:231,0,197 . . . 1 39957979 rs76039610 A G NON_SYNONYMOUS_CODING BMP8A MODERATE|MISSENSE|Atg/Gtg|M106V|402|BMP8A|protein_coding|CODING|ENST00000331593|exon_1_39957318_39957997 . 0/1:86:83,0,153 . . 1 39976930 rs201515760 C T NON_SYNONYMOUS_CODING BMP8A MODERATE|MISSENSE|gCg/gTg|A140V|402|BMP8A|protein_coding|CODING|ENST00000331593|exon_1_39976846_39977035 0/1:84:81,0,205 . . . 1 39976974 rs202230393 C T NON_SYNONYMOUS_CODING BMP8A MODERATE|MISSENSE|Cac/Tac|H155Y|402|BMP8A|protein_coding|CODING|ENST00000331593|exon_1_39976846_39977035 0/1:82:79,0,195 . . . 1 40211134 . A G NON_SYNONYMOUS_CODING PPIE MODERATE|MISSENSE|Atg/Gtg|M107V|250|PPIE|protein_coding|CODING|ENST00000372835|exon_1_40211047_40211170 . . . 0/1:99:171,0,233 1 40211134 . A G NON_SYNONYMOUS_CODING PPIE MODERATE|MISSENSE|Atg/Gtg|M158V|296|PPIE|protein_coding|CODING|ENST00000356511|exon_1_40211047_40211170 . . . 0/1:99:171,0,233 1 40211134 . A G NON_SYNONYMOUS_CODING PPIE MODERATE|MISSENSE|Atg/Gtg|M158V|301|PPIE|protein_coding|CODING|ENST00000324379|exon_1_40211047_40211170 . . . 0/1:99:171,0,233 1 40211134 . A G NON_SYNONYMOUS_CODING PPIE MODERATE|MISSENSE|Atg/Gtg|M158V|314|PPIE|protein_coding|CODING|ENST00000372830|exon_1_40211047_40211170 . . . 0/1:99:171,0,233 1 40211134 . A G NON_SYNONYMOUS_CODING PPIE MODERATE|MISSENSE|Atg/Gtg|M92V|212|PPIE|protein_coding|CODING|ENST00000497370|exon_1_40211047_40211170 . . . 0/1:99:171,0,233 1 40315888 rs3738671 A T NON_SYNONYMOUS_CODING TRIT1 MODERATE|MISSENSE|ttT/ttA|F116L|379|TRIT1|protein_coding|CODING|ENST00000441669|exon_1_40315791_40315933 0/1:99:255,0,174 . . . 1 40315888 rs3738671 A T NON_SYNONYMOUS_CODING TRIT1 MODERATE|MISSENSE|ttT/ttA|F122L|385|TRIT1|protein_coding|CODING|ENST00000372825|exon_1_40315791_40315933 0/1:99:255,0,174 . . . 1 40315888 rs3738671 A T NON_SYNONYMOUS_CODING TRIT1 MODERATE|MISSENSE|ttT/ttA|F202L|441|TRIT1|protein_coding|CODING|ENST00000046894|exon_1_40315791_40315933 0/1:99:255,0,174 . . . 1 40315888 rs3738671 A T NON_SYNONYMOUS_CODING TRIT1 MODERATE|MISSENSE|ttT/ttA|F202L|441|TRIT1|protein_coding|CODING|ENST00000372818|exon_1_40315791_40315933 0/1:99:255,0,174 . . . 1 40315888 rs3738671 A T NON_SYNONYMOUS_CODING TRIT1 MODERATE|MISSENSE|ttT/ttA|F202L|467|TRIT1|protein_coding|CODING|ENST00000316891|exon_1_40315791_40315933 0/1:99:255,0,174 . . . 1 40315888 rs3738671 A T NON_SYNONYMOUS_CODING TRIT1 MODERATE|MISSENSE|ttT/ttA|F95L|360|TRIT1|protein_coding|CODING|ENST00000534869|exon_1_40315791_40315933 0/1:99:255,0,174 . . . 1 40717144 rs80094747 C G NON_SYNONYMOUS_CODING TMCO2 MODERATE|MISSENSE|Cta/Gta|L143V|182|TMCO2|protein_coding|CODING|ENST00000372766|exon_1_40716955_40717363 . . 0/1:99:255,0,255 . 1 40773123 rs2228567 G C NON_SYNONYMOUS_CODING COL9A2 MODERATE|MISSENSE|Cta/Gta|L335V|689|COL9A2|protein_coding|CODING|ENST00000372748|exon_1_40773118_40773171 . . 0/1:99:138,0,227 . 1 41848060 rs12092825 C T NON_SYNONYMOUS_CODING FOXO6 MODERATE|MISSENSE|gCc/gTc|A396V|559|FOXO6|protein_coding|CODING|ENST00000372591|exon_1_41847288_41849262 . 1/1:33:164,18,0 0/1:47:53,0,44 . 1 42050366 rs2146315 C T NON_SYNONYMOUS_CODING HIVEP3 MODERATE|MISSENSE|Gtc/Atc|V35I|2405|HIVEP3|protein_coding|CODING|ENST00000372584|exon_1_42045408_42050989 . 1/1:99:255,96,0 0/1:99:237,0,202 . 1 42050366 rs2146315 C T NON_SYNONYMOUS_CODING HIVEP3 MODERATE|MISSENSE|Gtc/Atc|V35I|2405|HIVEP3|protein_coding|CODING|ENST00000429157|exon_1_42045408_42050989 . 1/1:99:255,96,0 0/1:99:237,0,202 . 1 42050366 rs2146315 C T NON_SYNONYMOUS_CODING HIVEP3 MODERATE|MISSENSE|Gtc/Atc|V35I|2406|HIVEP3|protein_coding|CODING|ENST00000247584|exon_1_42045408_42050989 . 1/1:99:255,96,0 0/1:99:237,0,202 . 1 42050366 rs2146315 C T NON_SYNONYMOUS_CODING HIVEP3 MODERATE|MISSENSE|Gtc/Atc|V35I|2406|HIVEP3|protein_coding|CODING|ENST00000372583|exon_1_42045408_42050989 . 1/1:99:255,96,0 0/1:99:237,0,202 . 1 42657196 rs1139978 T G NON_SYNONYMOUS_CODING FOXJ3 MODERATE|MISSENSE|Aca/Cca|T343P|381|FOXJ3|protein_coding|CODING|ENST00000445886|exon_1_42657077_42657390 . 0/1:99:255,0,255 1/1:99:255,90,0 . 1 42657196 rs1139978 T G NON_SYNONYMOUS_CODING FOXJ3 MODERATE|MISSENSE|Aca/Cca|T343P|588|FOXJ3|protein_coding|CODING|ENST00000361776|exon_1_42656974_42657390 . 0/1:99:255,0,255 1/1:99:255,90,0 . 1 42657196 rs1139978 T G NON_SYNONYMOUS_CODING FOXJ3 MODERATE|MISSENSE|Aca/Cca|T377P|622|FOXJ3|protein_coding|CODING|ENST00000361346|exon_1_42656974_42657390 . 0/1:99:255,0,255 1/1:99:255,90,0 . 1 42657196 rs1139978 T G NON_SYNONYMOUS_CODING FOXJ3 MODERATE|MISSENSE|Aca/Cca|T377P|622|FOXJ3|protein_coding|CODING|ENST00000372572|exon_1_42656974_42657390 . 0/1:99:255,0,255 1/1:99:255,90,0 . 1 42657196 rs1139978 T G NON_SYNONYMOUS_CODING FOXJ3 MODERATE|MISSENSE|Aca/Cca|T377P|622|FOXJ3|protein_coding|CODING|ENST00000372573|exon_1_42656974_42657390 . 0/1:99:255,0,255 1/1:99:255,90,0 . 1 42657196 rs1139978 T G NON_SYNONYMOUS_CODING FOXJ3 MODERATE|MISSENSE|Aca/Cca|T377P|622|FOXJ3|protein_coding|CODING|ENST00000545068|exon_1_42656974_42657390 . 0/1:99:255,0,255 1/1:99:255,90,0 . 1 42896441 rs41301052 C A NON_SYNONYMOUS_CODING ZMYND12 MODERATE|MISSENSE|aGt/aTt|S245I|255|ZMYND12|protein_coding|CODING|ENST00000433602|exon_1_42896006_42896529 . . . 0/1:99:255,0,255 1 42896441 rs41301052 C A NON_SYNONYMOUS_CODING ZMYND12 MODERATE|MISSENSE|aGt/aTt|S355I|365|ZMYND12|protein_coding|CODING|ENST00000372565|exon_1_42896000_42896529 . . . 0/1:99:255,0,255 1 43296522 rs56025238 G A NON_SYNONYMOUS_CODING ERMAP MODERATE|MISSENSE|Ggg/Agg|G57R|475|ERMAP|protein_coding|CODING|ENST00000372514|exon_1_43296439_43296786 . . 0/1:99:129,0,130 . 1 43296522 rs56025238 G A NON_SYNONYMOUS_CODING ERMAP MODERATE|MISSENSE|Ggg/Agg|G57R|475|ERMAP|protein_coding|CODING|ENST00000372517|exon_1_43296439_43296786 . . 0/1:99:129,0,130 . 1 43782939 rs142240204 G A NON_SYNONYMOUS_CODING TIE1 MODERATE|MISSENSE|Gag/Aag|E110K|421|TIE1|protein_coding|CODING|ENST00000536913|exon_1_43782870_43783080 0/1:99:182,0,255 . . . 1 43782939 rs142240204 G A NON_SYNONYMOUS_CODING TIE1 MODERATE|MISSENSE|Gag/Aag|E230K|541|TIE1|protein_coding|CODING|ENST00000372475|exon_1_43782870_43783080 0/1:99:182,0,255 . . . 1 43782939 rs142240204 G A NON_SYNONYMOUS_CODING TIE1 MODERATE|MISSENSE|Gag/Aag|E472K|783|TIE1|protein_coding|CODING|ENST00000433781|exon_1_43782870_43783080 0/1:99:182,0,255 . . . 1 43782939 rs142240204 G A NON_SYNONYMOUS_CODING TIE1 MODERATE|MISSENSE|Gag/Aag|E827K|1138|TIE1|protein_coding|CODING|ENST00000372476|exon_1_43782870_43783080 0/1:99:182,0,255 . . . 1 43919081 rs142369206 T C NON_SYNONYMOUS_CODING HYI MODERATE|MISSENSE|tAt/tGt|Y23C|204|HYI|protein_coding|CODING|ENST00000372430|exon_1_43919057_43919168 . 0/1:99:112,0,141 . . 1 43919081 rs142369206 T C NON_SYNONYMOUS_CODING HYI MODERATE|MISSENSE|tAt/tGt|Y96C|247|HYI|protein_coding|CODING|ENST00000372432|exon_1_43919057_43919168 . 0/1:99:112,0,141 . . 1 43919081 rs142369206 T C NON_SYNONYMOUS_CODING HYI MODERATE|MISSENSE|tAt/tGt|Y96C|276|HYI|protein_coding|CODING|ENST00000486909|exon_1_43919057_43919168 . 0/1:99:112,0,141 . . 1 43919081 rs142369206 T C NON_SYNONYMOUS_CODING HYI MODERATE|MISSENSE|tAt/tGt|Y96C|277|HYI|protein_coding|CODING|ENST00000372425|exon_1_43919057_43919168 . 0/1:99:112,0,141 . . 1 44436841 . C T NON_SYNONYMOUS_CODING DPH2 MODERATE|MISSENSE|cCg/cTg|P155L|261|DPH2|protein_coding|CODING|ENST00000396758|exon_1_44436638_44436861 . 0/1:99:179,0,254 . . 1 44436841 . C T NON_SYNONYMOUS_CODING DPH2 MODERATE|MISSENSE|cCg/cTg|P155L|489|DPH2|protein_coding|CODING|ENST00000255108|exon_1_44436638_44436861 . 0/1:99:179,0,254 . . 1 44436841 . C T NON_SYNONYMOUS_CODING DPH2 MODERATE|MISSENSE|cCg/cTg|P19L|262|DPH2|protein_coding|CODING|ENST00000459879|exon_1_44436786_44436861 . 0/1:99:179,0,254 . . 1 44447413 rs1859728 G C NON_SYNONYMOUS_CODING B4GALT2 MODERATE|MISSENSE|caG/caC|Q122H|372|B4GALT2|protein_coding|CODING|ENST00000356836|exon_1_44447361_44447596 . . . 0/1:99:163,0,233 1 44447413 rs1859728 G C NON_SYNONYMOUS_CODING B4GALT2 MODERATE|MISSENSE|caG/caC|Q122H|372|B4GALT2|protein_coding|CODING|ENST00000372324|exon_1_44447361_44447596 . . . 0/1:99:163,0,233 1 44447413 rs1859728 G C NON_SYNONYMOUS_CODING B4GALT2 MODERATE|MISSENSE|caG/caC|Q151H|401|B4GALT2|protein_coding|CODING|ENST00000309519|exon_1_44447361_44447596 . . . 0/1:99:163,0,233 1 44447413 rs1859728 G C NON_SYNONYMOUS_CODING B4GALT2 MODERATE|MISSENSE|caG/caC|Q56H|306|B4GALT2|protein_coding|CODING|ENST00000434555|exon_1_44447405_44447596 . . . 0/1:99:163,0,233 1 44461615 rs142384645 G A NON_SYNONYMOUS_CODING CCDC24 MODERATE|MISSENSE|cGg/cAg|R236Q|307|CCDC24|protein_coding|CODING|ENST00000372318|exon_1_44461610_44462200 0/1:99:132,0,166 . . . 1 44461822 rs2301983 C T NON_SYNONYMOUS_CODING CCDC24 MODERATE|MISSENSE|gCc/gTc|A305V|307|CCDC24|protein_coding|CODING|ENST00000372318|exon_1_44461610_44462200 . . . 0/1:99:177,0,159 1 45292173 rs11573590 G A NON_SYNONYMOUS_CODING PTCH2 MODERATE|MISSENSE|aCg/aTg|T988M|1146|PTCH2|protein_coding|CODING|ENST00000447098|exon_1_45292160_45292440 0/1:99:209,0,225 . . . 1 45292173 rs11573590 G A NON_SYNONYMOUS_CODING PTCH2 MODERATE|MISSENSE|aCg/aTg|T988M|1203|PTCH2|protein_coding|CODING|ENST00000372192|exon_1_45292160_45292440 0/1:99:209,0,225 . . . 1 45296591 . C T NON_SYNONYMOUS_CODING PTCH2 MODERATE|MISSENSE|Gtg/Atg|V248M|1146|PTCH2|protein_coding|CODING|ENST00000447098|exon_1_45296520_45296715 . 0/1:99:210,0,177 . . 1 45296591 . C T NON_SYNONYMOUS_CODING PTCH2 MODERATE|MISSENSE|Gtg/Atg|V248M|1203|PTCH2|protein_coding|CODING|ENST00000372192|exon_1_45296520_45296715 . 0/1:99:210,0,177 . . 1 45501781 . T G NON_SYNONYMOUS_CODING ZSWIM5 MODERATE|MISSENSE|caA/caC|Q695H|1185|ZSWIM5|protein_coding|CODING|ENST00000359600|exon_1_45501711_45501971 0/1:99:208,0,255 . . . 1 45671599 rs188223265 G A NON_SYNONYMOUS_CODING ZSWIM5 MODERATE|MISSENSE|Ccc/Tcc|P142S|1185|ZSWIM5|protein_coding|CODING|ENST00000359600|exon_1_45671428_45672228 . . 1/1:10:70,6,0 . 1 45797505 rs3219489 C G NON_SYNONYMOUS_CODING MUTYH MODERATE|MISSENSE|caG/caC|Q182H|214|MUTYH|protein_coding|CODING|ENST00000412971|exon_1_45797406_45797521 0/1:99:200,0,171 . 0/1:99:255,0,206 . 1 45797505 rs3219489 C G NON_SYNONYMOUS_CODING MUTYH MODERATE|MISSENSE|caG/caC|Q182H|214|MUTYH|protein_coding|CODING|ENST00000525481|exon_1_45797333_45797521 0/1:99:200,0,171 . 0/1:99:255,0,206 . 1 45797505 rs3219489 C G NON_SYNONYMOUS_CODING MUTYH MODERATE|MISSENSE|caG/caC|Q310H|521|MUTYH|protein_coding|CODING|ENST00000355498|exon_1_45797333_45797521 0/1:99:200,0,171 . 0/1:99:255,0,206 . 1 45797505 rs3219489 C G NON_SYNONYMOUS_CODING MUTYH MODERATE|MISSENSE|caG/caC|Q310H|521|MUTYH|protein_coding|CODING|ENST00000372104|exon_1_45797333_45797521 0/1:99:200,0,171 . 0/1:99:255,0,206 . 1 45797505 rs3219489 C G NON_SYNONYMOUS_CODING MUTYH MODERATE|MISSENSE|caG/caC|Q310H|521|MUTYH|protein_coding|CODING|ENST00000456914|exon_1_45797333_45797521 0/1:99:200,0,171 . 0/1:99:255,0,206 . 1 45797505 rs3219489 C G NON_SYNONYMOUS_CODING MUTYH MODERATE|MISSENSE|caG/caC|Q311H|522|MUTYH|protein_coding|CODING|ENST00000354383|exon_1_45797333_45797521 0/1:99:200,0,171 . 0/1:99:255,0,206 . 1 45797505 rs3219489 C G NON_SYNONYMOUS_CODING MUTYH MODERATE|MISSENSE|caG/caC|Q321H|532|MUTYH|protein_coding|CODING|ENST00000372100|exon_1_45797333_45797521 0/1:99:200,0,171 . 0/1:99:255,0,206 . 1 45797505 rs3219489 C G NON_SYNONYMOUS_CODING MUTYH MODERATE|MISSENSE|caG/caC|Q321H|532|MUTYH|protein_coding|CODING|ENST00000448481|exon_1_45797333_45797521 0/1:99:200,0,171 . 0/1:99:255,0,206 . 1 45797505 rs3219489 C G NON_SYNONYMOUS_CODING MUTYH MODERATE|MISSENSE|caG/caC|Q324H|535|MUTYH|protein_coding|CODING|ENST00000372115|exon_1_45797333_45797521 0/1:99:200,0,171 . 0/1:99:255,0,206 . 1 45797505 rs3219489 C G NON_SYNONYMOUS_CODING MUTYH MODERATE|MISSENSE|caG/caC|Q325H|536|MUTYH|protein_coding|CODING|ENST00000372110|exon_1_45797333_45797521 0/1:99:200,0,171 . 0/1:99:255,0,206 . 1 45797505 rs3219489 C G NON_SYNONYMOUS_CODING MUTYH MODERATE|MISSENSE|caG/caC|Q335H|546|MUTYH|protein_coding|CODING|ENST00000372098|exon_1_45797333_45797521 0/1:99:200,0,171 . 0/1:99:255,0,206 . 1 45797505 rs3219489 C G NON_SYNONYMOUS_CODING MUTYH MODERATE|MISSENSE|caG/caC|Q338H|549|MUTYH|protein_coding|CODING|ENST00000450313|exon_1_45797333_45797521 0/1:99:200,0,171 . 0/1:99:255,0,206 . 1 46086766 rs17410855 C T NON_SYNONYMOUS_CODING CCDC17 MODERATE|MISSENSE|Gta/Ata|V438I|590|CCDC17|protein_coding|CODING|ENST00000343901|exon_1_46086575_46086785 . 0/1:99:255,0,255 . . 1 46086766 rs17410855 C T NON_SYNONYMOUS_CODING CCDC17 MODERATE|MISSENSE|Gta/Ata|V461I|613|CCDC17|protein_coding|CODING|ENST00000421127|exon_1_46086575_46086785 . 0/1:99:255,0,255 . . 1 46086766 rs17410855 C T NON_SYNONYMOUS_CODING CCDC17 MODERATE|MISSENSE|Gta/Ata|V470I|622|CCDC17|protein_coding|CODING|ENST00000528266|exon_1_46086575_46086785 . 0/1:99:255,0,255 . . 1 46499526 rs1052607 A G NON_SYNONYMOUS_CODING MAST2 MODERATE|MISSENSE|aAa/aGa|K1104R|1608|MAST2|protein_coding|CODING|ENST00000372009|exon_1_46499474_46499610 . . 0/1:99:255,0,255 . 1 46499526 rs1052607 A G NON_SYNONYMOUS_CODING MAST2 MODERATE|MISSENSE|aAa/aGa|K1197R|1798|MAST2|protein_coding|CODING|ENST00000361297|exon_1_46499474_46499610 . . 0/1:99:255,0,255 . 1 46500251 rs33931638 G A NON_SYNONYMOUS_CODING MAST2 MODERATE|MISSENSE|Gtg/Atg|V1304M|1798|MAST2|protein_coding|CODING|ENST00000361297|exon_1_46500210_46501796 . . 0/1:99:181,0,228 . 1 46500744 rs3737737 G C NON_SYNONYMOUS_CODING MAST2 MODERATE|MISSENSE|gGg/gCg|G1278A|1608|MAST2|protein_coding|CODING|ENST00000372009|exon_1_46500501_46501738 0/1:99:186,0,233 . . . 1 46500744 rs3737737 G C NON_SYNONYMOUS_CODING MAST2 MODERATE|MISSENSE|gGg/gCg|G1468A|1798|MAST2|protein_coding|CODING|ENST00000361297|exon_1_46500210_46501796 0/1:99:186,0,233 . . . 1 46500993 rs1052610 A G NON_SYNONYMOUS_CODING MAST2 MODERATE|MISSENSE|gAc/gGc|D1361G|1608|MAST2|protein_coding|CODING|ENST00000372009|exon_1_46500501_46501738 0/1:99:228,0,124 1/1:99:255,87,0 . 0/1:99:219,0,117 1 46500993 rs1052610 A G NON_SYNONYMOUS_CODING MAST2 MODERATE|MISSENSE|gAc/gGc|D1551G|1798|MAST2|protein_coding|CODING|ENST00000361297|exon_1_46500210_46501796 0/1:99:228,0,124 1/1:99:255,87,0 . 0/1:99:219,0,117 1 46500993 rs1052610 A G NON_SYNONYMOUS_CODING MAST2 MODERATE|MISSENSE|gAc/gGc|D238G|344|MAST2|protein_coding|CODING|ENST00000456625|exon_1_46500755_46501247 0/1:99:228,0,124 1/1:99:255,87,0 . 0/1:99:219,0,117 1 46774783 rs41292543 A G NON_SYNONYMOUS_CODING UQCRH MODERATE|MISSENSE|gAa/gGa|E22G|91|UQCRH|protein_coding|CODING|ENST00000311672|exon_1_46774773_46774799 . . . 0/1:99:255,0,255 1 46806550 rs41293277 C T NON_SYNONYMOUS_CODING NSUN4 MODERATE|MISSENSE|Ctc/Ttc|L18F|384|NSUN4|protein_coding|CODING|ENST00000474844|exon_1_46805849_46806591 . . 0/1:99:238,0,189 . 1 46860113 . G T NON_SYNONYMOUS_CODING FAAH MODERATE|MISSENSE|tgG/tgT|W31C|579|FAAH|protein_coding|CODING|ENST00000243167|exon_1_46859937_46860215 0/1:49:183,0,46 . . . 1 46879232 rs201909646 A C NON_SYNONYMOUS_CODING FAAH MODERATE|MISSENSE|gaA/gaC|E575D|579|FAAH|protein_coding|CODING|ENST00000243167|exon_1_46879119_46879517 0/1:99:146,0,235 . . . 1 47024308 rs34881418 C T NON_SYNONYMOUS_CODING MKNK1 MODERATE|MISSENSE|cGg/cAg|R310Q|329|MKNK1|protein_coding|CODING|ENST00000371944|exon_1_47023091_47024472 . . 0/1:99:177,0,255 . 1 47024308 rs34881418 C T NON_SYNONYMOUS_CODING MKNK1 MODERATE|MISSENSE|cGg/cAg|R405Q|424|MKNK1|protein_coding|CODING|ENST00000371945|exon_1_47023091_47024472 . . 0/1:99:177,0,255 . 1 47024308 rs34881418 C T NON_SYNONYMOUS_CODING MKNK1 MODERATE|MISSENSE|cGg/cAg|R446Q|465|MKNK1|protein_coding|CODING|ENST00000371946|exon_1_47023090_47024472 . . 0/1:99:177,0,255 . 1 47717077 rs200980713 T C NON_SYNONYMOUS_CODING STIL MODERATE|MISSENSE|Aca/Gca|T1182A|1270|STIL|protein_coding|CODING|ENST00000396221|exon_1_47716294_47717594 . 0/1:99:245,0,255 . . 1 47717077 rs200980713 T C NON_SYNONYMOUS_CODING STIL MODERATE|MISSENSE|Aca/Gca|T1199A|1287|STIL|protein_coding|CODING|ENST00000243182|exon_1_47716294_47717594 . 0/1:99:245,0,255 . . 1 47717077 rs200980713 T C NON_SYNONYMOUS_CODING STIL MODERATE|MISSENSE|Aca/Gca|T1199A|1287|STIL|protein_coding|CODING|ENST00000337817|exon_1_47715811_47717594 . 0/1:99:245,0,255 . . 1 47717077 rs200980713 T C NON_SYNONYMOUS_CODING STIL MODERATE|MISSENSE|Aca/Gca|T1199A|1287|STIL|protein_coding|CODING|ENST00000360380|exon_1_47715811_47717594 . 0/1:99:245,0,255 . . 1 47717077 rs200980713 T C NON_SYNONYMOUS_CODING STIL MODERATE|MISSENSE|Aca/Gca|T1200A|1288|STIL|protein_coding|CODING|ENST00000371877|exon_1_47715814_47717594 . 0/1:99:245,0,255 . . 1 47834209 rs35687416 G T NON_SYNONYMOUS_CODING CMPK1 MODERATE|MISSENSE|caG/caT|Q80H|228|CMPK1|protein_coding|CODING|ENST00000371873|exon_1_47834141_47834287 . . . 0/1:99:255,0,255 1 48241061 rs58366003 G A NON_SYNONYMOUS_CODING RP11-543D5.3.1 MODERATE|MISSENSE|cCg/cTg|P377L|517|RP11-543D5.3.1|protein_coding|CODING|ENST00000371865|exon_1_48240842_48241111 . 0/1:99:205,0,183 . . 1 48708250 rs78427303 C T NON_SYNONYMOUS_CODING SLC5A9 MODERATE|MISSENSE|gCg/gTg|A600V|681|SLC5A9|protein_coding|CODING|ENST00000438567|exon_1_48708129_48708288 . 0/1:99:183,0,243 1/1:99:255,69,0 . 1 48708250 rs78427303 C T NON_SYNONYMOUS_CODING SLC5A9 MODERATE|MISSENSE|gCg/gTg|A621V|702|SLC5A9|protein_coding|CODING|ENST00000533824|exon_1_48708129_48708288 . 0/1:99:183,0,243 1/1:99:255,69,0 . 1 48708250 rs78427303 C T NON_SYNONYMOUS_CODING SLC5A9 MODERATE|MISSENSE|gCg/gTg|A625V|706|SLC5A9|protein_coding|CODING|ENST00000236495|exon_1_48708129_48708288 . 0/1:99:183,0,243 1/1:99:255,69,0 . 1 52498861 rs2783175 A T NON_SYNONYMOUS_CODING KTI12 MODERATE|MISSENSE|gaT/gaA|D191E|354|KTI12|protein_coding|CODING|ENST00000371614|exon_1_52497775_52499488 . . . 0/1:99:189,0,255 1 52821892 rs141717834 G A NON_SYNONYMOUS_CODING CC2D1B MODERATE|MISSENSE|Cac/Tac|H55Y|214|CC2D1B|protein_coding|CODING|ENST00000438831|exon_1_52821858_52821974 . . 0/1:99:181,0,174 . 1 52821892 rs141717834 G A NON_SYNONYMOUS_CODING CC2D1B MODERATE|MISSENSE|Cac/Tac|H588Y|755|CC2D1B|protein_coding|CODING|ENST00000371573|exon_1_52821858_52821974 . . 0/1:99:181,0,174 . 1 52821892 rs141717834 G A NON_SYNONYMOUS_CODING CC2D1B MODERATE|MISSENSE|Cac/Tac|H674Y|852|CC2D1B|protein_coding|CODING|ENST00000284376|exon_1_52821858_52821974 . . 0/1:99:181,0,174 . 1 52821892 rs141717834 G A NON_SYNONYMOUS_CODING CC2D1B MODERATE|MISSENSE|Cac/Tac|H680Y|858|CC2D1B|protein_coding|CODING|ENST00000371586|exon_1_52821858_52821974 . . 0/1:99:181,0,174 . 1 53326421 rs61744306 A G NON_SYNONYMOUS_CODING ZYG11A MODERATE|MISSENSE|Atg/Gtg|M343V|759|ZYG11A|protein_coding|CODING|ENST00000371528|exon_1_53326403_53326543 0/1:99:161,0,255 . . . 1 53347210 rs74990705 A G NON_SYNONYMOUS_CODING ZYG11A MODERATE|MISSENSE|aAc/aGc|N264S|417|ZYG11A|protein_coding|CODING|ENST00000371532|exon_1_53347143_53347337 0/1:99:255,0,255 . . . 1 53347210 rs74990705 A G NON_SYNONYMOUS_CODING ZYG11A MODERATE|MISSENSE|aAc/aGc|N606S|759|ZYG11A|protein_coding|CODING|ENST00000371528|exon_1_53347143_53347337 0/1:99:255,0,255 . . . 1 53535499 rs17107831 C T NON_SYNONYMOUS_CODING PODN MODERATE|MISSENSE|gCa/gTa|A20V|642|PODN|protein_coding|CODING|ENST00000371500|exon_1_53535473_53535839 . 0/1:99:175,0,98 . . 1 53535499 rs17107831 C T NON_SYNONYMOUS_CODING PODN MODERATE|MISSENSE|gCa/gTa|A39V|519|PODN|protein_coding|CODING|ENST00000395871|exon_1_53535473_53535839 . 0/1:99:175,0,98 . . 1 53535499 rs17107831 C T NON_SYNONYMOUS_CODING PODN MODERATE|MISSENSE|gCa/gTa|A39V|661|PODN|protein_coding|CODING|ENST00000312553|exon_1_53535473_53535839 . 0/1:99:175,0,98 . . 1 53544513 rs12567021 C T NON_SYNONYMOUS_CODING PODN MODERATE|MISSENSE|aCg/aTg|T350M|519|PODN|protein_coding|CODING|ENST00000395871|exon_1_53544037_53544694 0/1:99:208,0,246 . . . 1 53544513 rs12567021 C T NON_SYNONYMOUS_CODING PODN MODERATE|MISSENSE|aCg/aTg|T473M|642|PODN|protein_coding|CODING|ENST00000371500|exon_1_53544037_53544694 0/1:99:208,0,246 . . . 1 53544513 rs12567021 C T NON_SYNONYMOUS_CODING PODN MODERATE|MISSENSE|aCg/aTg|T492M|661|PODN|protein_coding|CODING|ENST00000312553|exon_1_53544037_53544694 0/1:99:208,0,246 . . . 1 53676401 rs2229291 T G NON_SYNONYMOUS_CODING CPT2 MODERATE|MISSENSE|tTt/tGt|F352C|658|CPT2|protein_coding|CODING|ENST00000371486|exon_1_53675687_53676991 0/1:99:217,0,238 . . . 1 54637048 rs114622270 T C NON_SYNONYMOUS_CODING AL357673.1 MODERATE|MISSENSE|Aaa/Gaa|K33E|126|AL357673.1|protein_coding|CODING|ENST00000536061|exon_1_54635333_54637997 . 0/1:99:238,0,255 . . 1 54681899 rs150955584 T C NON_SYNONYMOUS_CODING MRPL37 MODERATE|MISSENSE|cTg/cCg|L228P|292|MRPL37|protein_coding|CODING|ENST00000336230|exon_1_54681814_54682017 . . . 0/1:99:199,0,205 1 54681899 rs150955584 T C NON_SYNONYMOUS_CODING MRPL37 MODERATE|MISSENSE|cTg/cCg|L296P|416|MRPL37|protein_coding|CODING|ENST00000329505|exon_1_54681814_54682017 . . . 0/1:99:199,0,205 1 54681899 rs150955584 T C NON_SYNONYMOUS_CODING MRPL37 MODERATE|MISSENSE|cTg/cCg|L359P|423|MRPL37|protein_coding|CODING|ENST00000360840|exon_1_54681814_54682017 . . . 0/1:99:199,0,205 1 55224131 rs2270004 T C NON_SYNONYMOUS_CODING PARS2 MODERATE|MISSENSE|aAc/aGc|N235S|475|PARS2|protein_coding|CODING|ENST00000371279|exon_1_55222571_55224863 0/1:99:255,0,255 . . . 1 55224751 rs11577368 C A NON_SYNONYMOUS_CODING PARS2 MODERATE|MISSENSE|agG/agT|R28S|475|PARS2|protein_coding|CODING|ENST00000371279|exon_1_55222571_55224863 0/1:99:141,0,255 . . . 1 55248074 rs12144325 A G NON_SYNONYMOUS_CODING TTC22 MODERATE|MISSENSE|cTg/cCg|L366P|569|TTC22|protein_coding|CODING|ENST00000371276|exon_1_55247998_55248150 . . 0/1:99:228,0,255 0/1:99:203,0,209 1 55250479 rs78948067 C T NON_SYNONYMOUS_CODING TTC22 MODERATE|MISSENSE|cGg/cAg|R145Q|170|TTC22|protein_coding|CODING|ENST00000448308|exon_1_55250227_55250549 . . 0/1:99:255,0,231 0/1:99:196,0,229 1 55562743 rs2274540 C T NON_SYNONYMOUS_CODING USP24 MODERATE|MISSENSE|Ggt/Agt|G1780S|2460|USP24|protein_coding|CODING|ENST00000407756|exon_1_55562625_55562845 0/1:99:255,0,230 . . . 1 55562743 rs2274540 C T NON_SYNONYMOUS_CODING USP24 MODERATE|MISSENSE|Ggt/Agt|G1940S|2620|USP24|protein_coding|CODING|ENST00000294383|exon_1_55562625_55562845 0/1:99:255,0,230 . . . 1 57219539 rs72668350 C A NON_SYNONYMOUS_CODING C1orf168 MODERATE|MISSENSE|aaG/aaT|K400N|728|C1orf168|protein_coding|CODING|ENST00000343433|exon_1_57219512_57219608 . 0/1:99:196,0,255 . . 1 57257885 . C A NON_SYNONYMOUS_CODING C1orf168 MODERATE|MISSENSE|Gtg/Ttg|V201L|728|C1orf168|protein_coding|CODING|ENST00000343433|exon_1_57257729_57258476 0/1:99:255,0,215 . . . 1 57415310 rs12085435 G A NON_SYNONYMOUS_CODING C8B MODERATE|MISSENSE|cCt/cTt|P199L|529|C8B|protein_coding|CODING|ENST00000535057|exon_1_57415228_57415425 . 0/1:99:255,0,255 0/1:99:255,0,255 . 1 57415310 rs12085435 G A NON_SYNONYMOUS_CODING C8B MODERATE|MISSENSE|cCt/cTt|P209L|539|C8B|protein_coding|CODING|ENST00000543257|exon_1_57415228_57415425 . 0/1:99:255,0,255 0/1:99:255,0,255 . 1 57415310 rs12085435 G A NON_SYNONYMOUS_CODING C8B MODERATE|MISSENSE|cCt/cTt|P261L|591|C8B|protein_coding|CODING|ENST00000371237|exon_1_57415228_57415425 . 0/1:99:255,0,255 0/1:99:255,0,255 . 1 57422511 rs12067507 C T NON_SYNONYMOUS_CODING C8B MODERATE|MISSENSE|Gaa/Aaa|E108K|591|C8B|protein_coding|CODING|ENST00000371237|exon_1_57422442_57422583 . 0/1:99:255,0,255 0/1:99:255,0,165 . 1 57422511 rs12067507 C T NON_SYNONYMOUS_CODING C8B MODERATE|MISSENSE|Gaa/Aaa|E46K|529|C8B|protein_coding|CODING|ENST00000535057|exon_1_57422442_57422583 . 0/1:99:255,0,255 0/1:99:255,0,165 . 1 57422511 rs12067507 C T NON_SYNONYMOUS_CODING C8B MODERATE|MISSENSE|Gaa/Aaa|E56K|539|C8B|protein_coding|CODING|ENST00000543257|exon_1_57422442_57422583 . 0/1:99:255,0,255 0/1:99:255,0,165 . 1 57528562 rs141893131 C G NON_SYNONYMOUS_CODING DAB1 MODERATE|MISSENSE|Gta/Cta|V121L|238|DAB1|protein_coding|CODING|ENST00000371232|exon_1_57528557_57528616 . 0/1:99:255,0,255 . . 1 57528562 rs141893131 C G NON_SYNONYMOUS_CODING DAB1 MODERATE|MISSENSE|Gta/Cta|V121L|469|DAB1|protein_coding|CODING|ENST00000439789|exon_1_57528557_57528616 . 0/1:99:255,0,255 . . 1 57528562 rs141893131 C G NON_SYNONYMOUS_CODING DAB1 MODERATE|MISSENSE|Gta/Cta|V205L|537|DAB1|protein_coding|CODING|ENST00000414851|exon_1_57528557_57528616 . 0/1:99:255,0,255 . . 1 57528562 rs141893131 C G NON_SYNONYMOUS_CODING DAB1 MODERATE|MISSENSE|Gta/Cta|V205L|553|DAB1|protein_coding|CODING|ENST00000420954|exon_1_57528557_57528616 . 0/1:99:255,0,255 . . 1 57528562 rs141893131 C G NON_SYNONYMOUS_CODING DAB1 MODERATE|MISSENSE|Gta/Cta|V240L|555|DAB1|protein_coding|CODING|ENST00000371233|exon_1_57528557_57528616 . 0/1:99:255,0,255 . . 1 57528562 rs141893131 C G NON_SYNONYMOUS_CODING DAB1 MODERATE|MISSENSE|Gta/Cta|V240L|555|DAB1|protein_coding|CODING|ENST00000371234|exon_1_57528557_57528616 . 0/1:99:255,0,255 . . 1 57528562 rs141893131 C G NON_SYNONYMOUS_CODING DAB1 MODERATE|MISSENSE|Gta/Cta|V240L|555|DAB1|protein_coding|CODING|ENST00000371236|exon_1_57528557_57528616 . 0/1:99:255,0,255 . . 1 57528562 rs141893131 C G NON_SYNONYMOUS_CODING DAB1 MODERATE|MISSENSE|Gta/Cta|V240L|588|DAB1|protein_coding|CODING|ENST00000371231|exon_1_57528557_57528616 . 0/1:99:255,0,255 . . 1 59042388 rs1062964 C G NON_SYNONYMOUS_CODING TACSTD2 MODERATE|MISSENSE|gaG/gaC|E147D|323|TACSTD2|protein_coding|CODING|ENST00000371225|exon_1_59041099_59043166 . . 0/1:99:212,0,254 0/1:99:217,0,126 1 62675673 rs200789118 G T NON_SYNONYMOUS_CODING L1TD1 MODERATE|MISSENSE|gaG/gaT|E409D|865|L1TD1|protein_coding|CODING|ENST00000498273|exon_1_62675455_62678000 . . . 0/1:79:76,0,142 1 62675674 rs141196718 C A NON_SYNONYMOUS_CODING L1TD1 MODERATE|MISSENSE|Ccc/Acc|P410T|865|L1TD1|protein_coding|CODING|ENST00000498273|exon_1_62675455_62678000 . . . 0/1:54:51,0,123 1 62734089 rs17123306 C T NON_SYNONYMOUS_CODING KANK4 MODERATE|MISSENSE|Ggc/Agc|G57S|351|KANK4|protein_coding|CODING|ENST00000371150|exon_1_62733959_62734177 . . 0/1:99:255,0,249 . 1 62734089 rs17123306 C T NON_SYNONYMOUS_CODING KANK4 MODERATE|MISSENSE|Ggc/Agc|G701S|995|KANK4|protein_coding|CODING|ENST00000371153|exon_1_62733959_62734177 . . 0/1:99:255,0,249 . 1 62734089 rs17123306 C T NON_SYNONYMOUS_CODING KANK4 MODERATE|MISSENSE|Ggc/Agc|G73S|367|KANK4|protein_coding|CODING|ENST00000354381|exon_1_62733959_62734177 . . 0/1:99:255,0,249 . 1 62740264 rs41309173 T C NON_SYNONYMOUS_CODING KANK4 MODERATE|MISSENSE|cAc/cGc|H171R|995|KANK4|protein_coding|CODING|ENST00000371153|exon_1_62738876_62740759 . . . 0/1:79:76,0,255 1 63872032 rs35383149 T C NON_SYNONYMOUS_CODING ALG6 MODERATE|MISSENSE|Tac/Cac|Y131H|507|ALG6|protein_coding|CODING|ENST00000371108|exon_1_63871988_63872070 . 0/1:99:255,0,255 . . 1 63872032 rs35383149 T C NON_SYNONYMOUS_CODING ALG6 MODERATE|MISSENSE|Tac/Cac|Y131H|509|ALG6|protein_coding|CODING|ENST00000263440|exon_1_63871988_63872070 . 0/1:99:255,0,255 . . 1 66075952 rs1805094 G C NON_SYNONYMOUS_CODING LEPR MODERATE|MISSENSE|aaG/aaC|K656N|1165|LEPR|protein_coding|CODING|ENST00000349533|exon_1_66075897_66075979 0/1:99:255,0,255 . . 0/1:99:255,0,255 1 66075952 rs1805094 G C NON_SYNONYMOUS_CODING LEPR MODERATE|MISSENSE|aaG/aaC|K656N|896|LEPR|protein_coding|CODING|ENST00000371060|exon_1_66075897_66075979 0/1:99:255,0,255 . . 0/1:99:255,0,255 1 66075952 rs1805094 G C NON_SYNONYMOUS_CODING LEPR MODERATE|MISSENSE|aaG/aaC|K656N|906|LEPR|protein_coding|CODING|ENST00000344610|exon_1_66075897_66075979 0/1:99:255,0,255 . . 0/1:99:255,0,255 1 66075952 rs1805094 G C NON_SYNONYMOUS_CODING LEPR MODERATE|MISSENSE|aaG/aaC|K656N|906|LEPR|protein_coding|CODING|ENST00000371058|exon_1_66075897_66075979 0/1:99:255,0,255 . . 0/1:99:255,0,255 1 66075952 rs1805094 G C NON_SYNONYMOUS_CODING LEPR MODERATE|MISSENSE|aaG/aaC|K656N|958|LEPR|protein_coding|CODING|ENST00000371059|exon_1_66075897_66075979 0/1:99:255,0,255 . . 0/1:99:255,0,255 1 67301438 . C T NON_SYNONYMOUS_CODING WDR78 MODERATE|MISSENSE|aGt/aAt|S281N|561|WDR78|protein_coding|CODING|ENST00000431318|exon_1_67301309_67301460 . . . 0/1:99:255,0,230 1 67301438 . C T NON_SYNONYMOUS_CODING WDR78 MODERATE|MISSENSE|aGt/aAt|S301N|581|WDR78|protein_coding|CODING|ENST00000464352|exon_1_67301309_67301460 . . . 0/1:99:255,0,230 1 67301438 . C T NON_SYNONYMOUS_CODING WDR78 MODERATE|MISSENSE|aGt/aAt|S535N|848|WDR78|protein_coding|CODING|ENST00000371026|exon_1_67301309_67301460 . . . 0/1:99:255,0,230 1 67470105 . T C NON_SYNONYMOUS_CODING SLC35D1 MODERATE|MISSENSE|tAt/tGt|Y329C|355|SLC35D1|protein_coding|CODING|ENST00000235345|exon_1_67465015_67470131 . . . 0/1:99:238,0,255 1 67518534 rs10157422 C T NON_SYNONYMOUS_CODING SLC35D1 MODERATE|MISSENSE|Gcc/Acc|A3T|260|SLC35D1|protein_coding|CODING|ENST00000506472|exon_1_67518454_67518540 . . . 0/1:99:201,0,228 1 67518534 rs10157422 C T NON_SYNONYMOUS_CODING SLC35D1 MODERATE|MISSENSE|Gcc/Acc|A82T|355|SLC35D1|protein_coding|CODING|ENST00000235345|exon_1_67518454_67518540 . . . 0/1:99:201,0,228 1 67705958 rs11209026 G A NON_SYNONYMOUS_CODING IL23R MODERATE|MISSENSE|cGa/cAa|R126Q|374|IL23R|protein_coding|CODING|ENST00000395227|exon_1_67705862_67705964 . . . 0/1:99:255,0,255 1 67705958 rs11209026 G A NON_SYNONYMOUS_CODING IL23R MODERATE|MISSENSE|cGa/cAa|R139Q|203|IL23R|protein_coding|CODING|ENST00000441823|exon_1_67705862_67705964 . . . 0/1:99:255,0,255 1 67705958 rs11209026 G A NON_SYNONYMOUS_CODING IL23R MODERATE|MISSENSE|cGa/cAa|R210Q|274|IL23R|protein_coding|CODING|ENST00000431791|exon_1_67705862_67705964 . . . 0/1:99:255,0,255 1 67705958 rs11209026 G A NON_SYNONYMOUS_CODING IL23R MODERATE|MISSENSE|cGa/cAa|R381Q|629|IL23R|protein_coding|CODING|ENST00000347310|exon_1_67705862_67705964 . . . 0/1:99:255,0,255 1 67792499 rs17129792 G A NON_SYNONYMOUS_CODING IL12RB2 MODERATE|MISSENSE|cGa/cAa|R149Q|659|IL12RB2|protein_coding|CODING|ENST00000371000|exon_1_67792418_67792532 0/1:99:255,0,238 . . . 1 67792499 rs17129792 G A NON_SYNONYMOUS_CODING IL12RB2 MODERATE|MISSENSE|cGa/cAa|R149Q|659|IL12RB2|protein_coding|CODING|ENST00000541374|exon_1_67792418_67792532 0/1:99:255,0,238 . . . 1 67792499 rs17129792 G A NON_SYNONYMOUS_CODING IL12RB2 MODERATE|MISSENSE|cGa/cAa|R149Q|776|IL12RB2|protein_coding|CODING|ENST00000544434|exon_1_67792418_67792532 0/1:99:255,0,238 . . . 1 67792499 rs17129792 G A NON_SYNONYMOUS_CODING IL12RB2 MODERATE|MISSENSE|cGa/cAa|R149Q|862|IL12RB2|protein_coding|CODING|ENST00000262345|exon_1_67792418_67792532 0/1:99:255,0,238 . . . 1 67816701 rs61731150 C T NON_SYNONYMOUS_CODING IL12RB2 MODERATE|MISSENSE|gCt/gTt|A396V|659|IL12RB2|protein_coding|CODING|ENST00000371000|exon_1_67816553_67816772 0/1:99:255,0,255 . . . 1 67816701 rs61731150 C T NON_SYNONYMOUS_CODING IL12RB2 MODERATE|MISSENSE|gCt/gTt|A396V|659|IL12RB2|protein_coding|CODING|ENST00000541374|exon_1_67816553_67816772 0/1:99:255,0,255 . . . 1 67816701 rs61731150 C T NON_SYNONYMOUS_CODING IL12RB2 MODERATE|MISSENSE|gCt/gTt|A396V|776|IL12RB2|protein_coding|CODING|ENST00000544434|exon_1_67816553_67816772 0/1:99:255,0,255 . . . 1 67816701 rs61731150 C T NON_SYNONYMOUS_CODING IL12RB2 MODERATE|MISSENSE|gCt/gTt|A396V|862|IL12RB2|protein_coding|CODING|ENST00000262345|exon_1_67816553_67816772 0/1:99:255,0,255 . . . 1 68512899 rs35600387 C A NON_SYNONYMOUS_CODING DIRAS3 MODERATE|MISSENSE|Gcc/Tcc|A28S|229|DIRAS3|protein_coding|CODING|ENST00000370981|exon_1_68511645_68513045 0/1:99:237,0,255 . . . 1 68512899 rs35600387 C A NON_SYNONYMOUS_CODING DIRAS3 MODERATE|MISSENSE|Gcc/Tcc|A28S|229|DIRAS3|protein_coding|CODING|ENST00000395201|exon_1_68511647_68513045 0/1:99:237,0,255 . . . 1 70501827 rs144654091 T G NON_SYNONYMOUS_CODING LRRC7 MODERATE|MISSENSE|aaT/aaG|N458K|1313|LRRC7|protein_coding|CODING|ENST00000370957|exon_1_70501804_70501915 . . 0/1:99:255,0,247 . 1 70501827 rs144654091 T G NON_SYNONYMOUS_CODING LRRC7 MODERATE|MISSENSE|aaT/aaG|N635K|1537|LRRC7|protein_coding|CODING|ENST00000035383|exon_1_70501804_70501915 . . 0/1:99:255,0,247 . 1 70501827 rs144654091 T G NON_SYNONYMOUS_CODING LRRC7 MODERATE|MISSENSE|aaT/aaG|N640K|1495|LRRC7|protein_coding|CODING|ENST00000310961|exon_1_70501804_70501915 . . 0/1:99:255,0,247 . 1 71536574 rs11583800 G C NON_SYNONYMOUS_CODING ZRANB2 MODERATE|MISSENSE|Cga/Gga|R207G|320|ZRANB2|protein_coding|CODING|ENST00000254821|exon_1_71536510_71536679 . . 0/1:99:189,0,255 . 1 71536574 rs11583800 G C NON_SYNONYMOUS_CODING ZRANB2 MODERATE|MISSENSE|Cga/Gga|R207G|330|ZRANB2|protein_coding|CODING|ENST00000370920|exon_1_71536510_71536679 . . 0/1:99:189,0,255 . 1 74507450 rs78657023 G C NON_SYNONYMOUS_CODING LRRIQ3 MODERATE|MISSENSE|Cat/Gat|H389D|624|LRRIQ3|protein_coding|CODING|ENST00000354431|exon_1_74506897_74507617 0/1:99:240,0,255 . . . 1 74507450 rs78657023 G C NON_SYNONYMOUS_CODING LRRIQ3 MODERATE|MISSENSE|Cat/Gat|H389D|624|LRRIQ3|protein_coding|CODING|ENST00000395089|exon_1_74506897_74507617 0/1:99:240,0,255 . . . 1 74648329 rs17591320 G A NON_SYNONYMOUS_CODING LRRIQ3 MODERATE|MISSENSE|Cat/Tat|H156Y|199|LRRIQ3|protein_coding|CODING|ENST00000370911|exon_1_74648222_74648545 . . 0/1:99:247,0,216 0/1:99:255,0,165 1 74648329 rs17591320 G A NON_SYNONYMOUS_CODING LRRIQ3 MODERATE|MISSENSE|Cat/Tat|H156Y|298|LRRIQ3|protein_coding|CODING|ENST00000388972|exon_1_74648222_74648545 . . 0/1:99:247,0,216 0/1:99:255,0,165 1 74648329 rs17591320 G A NON_SYNONYMOUS_CODING LRRIQ3 MODERATE|MISSENSE|Cat/Tat|H156Y|624|LRRIQ3|protein_coding|CODING|ENST00000354431|exon_1_74648222_74648545 . . 0/1:99:247,0,216 0/1:99:255,0,165 1 74648329 rs17591320 G A NON_SYNONYMOUS_CODING LRRIQ3 MODERATE|MISSENSE|Cat/Tat|H156Y|624|LRRIQ3|protein_coding|CODING|ENST00000395089|exon_1_74648222_74648545 . . 0/1:99:247,0,216 0/1:99:255,0,165 1 74929170 rs3737564 T C NON_SYNONYMOUS_CODING FPGT-TNNI3K MODERATE|MISSENSE|aTt/aCt|I686T|835|FPGT-TNNI3K|protein_coding|CODING|ENST00000326637|exon_1_74929125_74929234 0/1:99:255,0,233 . . . 1 74929170 rs3737564 T C NON_SYNONYMOUS_CODING FPGT-TNNI3K.1 MODERATE|MISSENSE|aTt/aCt|I787T|843|FPGT-TNNI3K.1|protein_coding|CODING|ENST00000370899|exon_1_74929125_74929234 0/1:99:255,0,233 . . . 1 74929170 rs3737564 T C NON_SYNONYMOUS_CODING FPGT-TNNI3K.1 MODERATE|MISSENSE|aTt/aCt|I787T|936|FPGT-TNNI3K.1|protein_coding|CODING|ENST00000557284|exon_1_74929125_74929234 0/1:99:255,0,233 . . . 1 74929170 rs3737564 T C NON_SYNONYMOUS_CODING FPGT-TNNI3K MODERATE|MISSENSE|aTt/aCt|I787T|936|FPGT-TNNI3K|protein_coding|CODING|ENST00000370891|exon_1_74929125_74929234 0/1:99:255,0,233 . . . 1 75055741 rs74513893 A C NON_SYNONYMOUS_CODING C1orf173 MODERATE|MISSENSE|Tca/Gca|S387A|533|C1orf173|protein_coding|CODING|ENST00000420661|exon_1_75055011_75055764 0/1:99:255,0,255 . . . 1 75055741 rs74513893 A C NON_SYNONYMOUS_CODING C1orf173 MODERATE|MISSENSE|Tca/Gca|S584A|1530|C1orf173|protein_coding|CODING|ENST00000326665|exon_1_75055315_75055764 0/1:99:255,0,255 . . . 1 75086463 rs140864337 C G NON_SYNONYMOUS_CODING C1orf173 MODERATE|MISSENSE|Ggt/Cgt|G122R|533|C1orf173|protein_coding|CODING|ENST00000420661|exon_1_75086418_75086598 . 0/1:99:255,0,255 . . 1 75086463 rs140864337 C G NON_SYNONYMOUS_CODING C1orf173 MODERATE|MISSENSE|Ggt/Cgt|G319R|1530|C1orf173|protein_coding|CODING|ENST00000326665|exon_1_75086418_75086598 . 0/1:99:255,0,255 . . 1 78098403 rs34535037 T C NON_SYNONYMOUS_CODING ZZZ3 MODERATE|MISSENSE|Ata/Gta|I213V|903|ZZZ3|protein_coding|CODING|ENST00000370801|exon_1_78097535_78099090 . 0/1:99:188,0,255 . . 1 78392446 rs1166698 G A NON_SYNONYMOUS_CODING NEXN MODERATE|MISSENSE|Gga/Aga|G181R|320|NEXN|protein_coding|CODING|ENST00000401035|exon_1_78392401_78392577 1/1:99:255,102,0 . . . 1 78392446 rs1166698 G A NON_SYNONYMOUS_CODING NEXN MODERATE|MISSENSE|Gga/Aga|G181R|611|NEXN|protein_coding|CODING|ENST00000330010|exon_1_78392401_78392577 1/1:99:255,102,0 . . . 1 78392446 rs1166698 G A NON_SYNONYMOUS_CODING NEXN MODERATE|MISSENSE|Gga/Aga|G231R|434|NEXN|protein_coding|CODING|ENST00000440324|exon_1_78392401_78392577 1/1:99:255,102,0 . . . 1 78392446 rs1166698 G A NON_SYNONYMOUS_CODING NEXN MODERATE|MISSENSE|Gga/Aga|G231R|662|NEXN|protein_coding|CODING|ENST00000457030|exon_1_78392401_78392577 1/1:99:255,102,0 . . . 1 78392446 rs1166698 G A NON_SYNONYMOUS_CODING NEXN MODERATE|MISSENSE|Gga/Aga|G245R|675|NEXN|protein_coding|CODING|ENST00000334785|exon_1_78392401_78392577 1/1:99:255,102,0 . . . 1 79095526 rs3820093 G A NON_SYNONYMOUS_CODING IFI44L MODERATE|MISSENSE|Gtc/Atc|V194I|232|IFI44L|protein_coding|CODING|ENST00000450498|exon_1_79095405_79095600 0/1:99:255,0,255 . . . 1 79095526 rs3820093 G A NON_SYNONYMOUS_CODING IFI44L MODERATE|MISSENSE|Gtc/Atc|V217I|452|IFI44L|protein_coding|CODING|ENST00000370751|exon_1_79095405_79095600 0/1:99:255,0,255 . . . 1 79102726 rs1981071 C T NON_SYNONYMOUS_CODING IFI44L MODERATE|MISSENSE|Cgt/Tgt|R296C|452|IFI44L|protein_coding|CODING|ENST00000370751|exon_1_79102717_79102888 0/1:99:249,0,255 . . . 1 79102726 rs1981071 C T NON_SYNONYMOUS_CODING IFI44L MODERATE|MISSENSE|Cgt/Tgt|R38C|194|IFI44L|protein_coding|CODING|ENST00000342282|exon_1_79102717_79102888 0/1:99:249,0,255 . . . 1 79121071 rs142991349 G A NON_SYNONYMOUS_CODING IFI44 MODERATE|MISSENSE|Ggg/Agg|G115R|194|IFI44|protein_coding|CODING|ENST00000438486|exon_1_79121047_79121196 . . 0/1:99:251,0,255 . 1 79121071 rs142991349 G A NON_SYNONYMOUS_CODING IFI44 MODERATE|MISSENSE|Ggg/Agg|G239R|444|IFI44|protein_coding|CODING|ENST00000370747|exon_1_79121047_79121196 . . 0/1:99:251,0,255 . 1 84373318 . G A NON_SYNONYMOUS_CODING TTLL7 MODERATE|MISSENSE|Cct/Tct|P382S|568|TTLL7|protein_coding|CODING|ENST00000370704|exon_1_84373139_84373344 0/1:99:255,0,191 . . . 1 84373318 . G A NON_SYNONYMOUS_CODING TTLL7 MODERATE|MISSENSE|Cct/Tct|P605S|669|TTLL7|protein_coding|CODING|ENST00000370703|exon_1_84373135_84373344 0/1:99:255,0,191 . . . 1 84373318 . G A NON_SYNONYMOUS_CODING TTLL7 MODERATE|MISSENSE|Cct/Tct|P605S|887|TTLL7|protein_coding|CODING|ENST00000260505|exon_1_84373139_84373344 0/1:99:255,0,191 . . . 1 85029077 rs15911 C T NON_SYNONYMOUS_CODING CTBS MODERATE|MISSENSE|Gtc/Atc|V274I|385|CTBS|protein_coding|CODING|ENST00000370630|exon_1_85028940_85029101 0/1:99:255,0,255 . 0/1:99:255,0,255 . 1 85040070 rs115347546 C A NON_SYNONYMOUS_CODING CTBS MODERATE|MISSENSE|cGc/cTc|R10L|385|CTBS|protein_coding|CODING|ENST00000370630|exon_1_85039922_85040147 0/1:99:104,0,179 . 0/1:96:125,0,93 . 1 86591141 rs17128866 A G NON_SYNONYMOUS_CODING COL24A1 MODERATE|MISSENSE|aTc/aCc|I293T|1693|COL24A1|protein_coding|CODING|ENST00000436319|exon_1_86590528_86591897 . . . 0/1:99:251,0,255 1 86591141 rs17128866 A G NON_SYNONYMOUS_CODING COL24A1 MODERATE|MISSENSE|aTc/aCc|I293T|1714|COL24A1|protein_coding|CODING|ENST00000370571|exon_1_86590528_86591897 . . . 0/1:99:251,0,255 1 87040229 rs2231599 A G NON_SYNONYMOUS_CODING CLCA4 MODERATE|MISSENSE|Agt/Ggt|S492G|919|CLCA4|protein_coding|CODING|ENST00000370563|exon_1_87040223_87040438 0/1:99:255,0,255 . . . 1 89524657 rs17130717 C G NON_SYNONYMOUS_CODING GBP1 MODERATE|MISSENSE|gaG/gaC|E129D|555|GBP1|protein_coding|CODING|ENST00000542693|exon_1_89524524_89524726 . 0/1:99:255,0,255 . . 1 89524657 rs17130717 C G NON_SYNONYMOUS_CODING GBP1 MODERATE|MISSENSE|gaG/gaC|E166D|592|GBP1|protein_coding|CODING|ENST00000370473|exon_1_89524524_89524726 . 0/1:99:255,0,255 . . 1 89582702 rs2230336 A G NON_SYNONYMOUS_CODING GBP2 MODERATE|MISSENSE|Tca/Cca|S281P|591|GBP2|protein_coding|CODING|ENST00000370466|exon_1_89582675_89582917 0/1:99:255,0,255 . . . 1 89846152 rs4582772 C T NON_SYNONYMOUS_CODING GBP6 MODERATE|MISSENSE|aCc/aTc|T148I|503|GBP6|protein_coding|CODING|ENST00000535065|exon_1_89845945_89846190 . . 0/1:99:255,0,255 . 1 89846152 rs4582772 C T NON_SYNONYMOUS_CODING GBP6 MODERATE|MISSENSE|aCc/aTc|T249I|604|GBP6|protein_coding|CODING|ENST00000544311|exon_1_89845945_89846190 . . 0/1:99:255,0,255 . 1 89846152 rs4582772 C T NON_SYNONYMOUS_CODING GBP6 MODERATE|MISSENSE|aCc/aTc|T278I|633|GBP6|protein_coding|CODING|ENST00000370456|exon_1_89845945_89846190 . . 0/1:99:255,0,255 . 1 91985828 rs13447539 A G NON_SYNONYMOUS_CODING CDC7 MODERATE|MISSENSE|aAa/aGa|K413R|546|CDC7|protein_coding|CODING|ENST00000430031|exon_1_91985687_91985836 0/1:99:255,0,255 . . . 1 91985828 rs13447539 A G NON_SYNONYMOUS_CODING CDC7 MODERATE|MISSENSE|aAa/aGa|K441R|574|CDC7|protein_coding|CODING|ENST00000234626|exon_1_91985687_91985836 0/1:99:255,0,255 . . . 1 91985828 rs13447539 A G NON_SYNONYMOUS_CODING CDC7 MODERATE|MISSENSE|aAa/aGa|K441R|574|CDC7|protein_coding|CODING|ENST00000428239|exon_1_91985687_91985836 0/1:99:255,0,255 . . . 1 92568089 rs17131602 A G NON_SYNONYMOUS_CODING BTBD8 MODERATE|MISSENSE|aAg/aGg|K136R|283|BTBD8|protein_coding|CODING|ENST00000540648|exon_1_92568030_92568226 . . 0/1:99:255,0,255 . 1 92568089 rs17131602 A G NON_SYNONYMOUS_CODING BTBD8 MODERATE|MISSENSE|aAg/aGg|K136R|305|BTBD8|protein_coding|CODING|ENST00000370382|exon_1_92568030_92568226 . . 0/1:99:255,0,255 . 1 92568089 rs17131602 A G NON_SYNONYMOUS_CODING BTBD8 MODERATE|MISSENSE|aAg/aGg|K136R|378|BTBD8|protein_coding|CODING|ENST00000342818|exon_1_92568030_92568226 . . 0/1:99:255,0,255 . 1 93309744 . C G NON_SYNONYMOUS_CODING FAM69A MODERATE|MISSENSE|ttG/ttC|L161F|428|FAM69A|protein_coding|CODING|ENST00000370310|exon_1_93307724_93309752 . . 0/1:99:229,0,255 . 1 94461717 rs6666652 C A NON_SYNONYMOUS_CODING ABCA4 MODERATE|MISSENSE|aGt/aTt|S1047I|1065|ABCA4|protein_coding|CODING|ENST00000546054|exon_1_94461665_94461751 . . 0/1:99:255,0,255 0/1:99:212,0,188 1 94461717 rs6666652 C A NON_SYNONYMOUS_CODING ABCA4 MODERATE|MISSENSE|aGt/aTt|S2255I|2273|ABCA4|protein_coding|CODING|ENST00000370225|exon_1_94461665_94461751 . . 0/1:99:255,0,255 0/1:99:212,0,188 1 94461717 rs6666652 C A NON_SYNONYMOUS_CODING ABCA4 MODERATE|MISSENSE|aGt/aTt|S374I|392|ABCA4|protein_coding|CODING|ENST00000535881|exon_1_94461665_94461751 . . 0/1:99:255,0,255 0/1:99:212,0,188 1 94461717 rs6666652 C A NON_SYNONYMOUS_CODING ABCA4 MODERATE|MISSENSE|aGt/aTt|S525I|543|ABCA4|protein_coding|CODING|ENST00000536513|exon_1_94461665_94461751 . . 0/1:99:255,0,255 0/1:99:212,0,188 1 94512565 rs1801581 C T NON_SYNONYMOUS_CODING ABCA4 MODERATE|MISSENSE|cGg/cAg|R869Q|979|ABCA4|protein_coding|CODING|ENST00000535735|exon_1_94512475_94512649 . 0/1:99:255,0,246 . . 1 94512565 rs1801581 C T NON_SYNONYMOUS_CODING ABCA4 MODERATE|MISSENSE|cGg/cAg|R943Q|2273|ABCA4|protein_coding|CODING|ENST00000370225|exon_1_94512475_94512649 . 0/1:99:255,0,246 . . 1 94685903 rs183410431 C T NON_SYNONYMOUS_CODING ARHGAP29 MODERATE|MISSENSE|cGt/cAt|R84H|1261|ARHGAP29|protein_coding|CODING|ENST00000260526|exon_1_94685814_94685948 0/1:99:255,0,255 . . . 1 94685903 rs183410431 C T NON_SYNONYMOUS_CODING ARHGAP29 MODERATE|MISSENSE|cGt/cAt|R84H|393|ARHGAP29|protein_coding|CODING|ENST00000370217|exon_1_94685814_94685948 0/1:99:255,0,255 . . . 1 99772070 . G A NON_SYNONYMOUS_CODING RP4-788L13.1.1 MODERATE|MISSENSE|Gca/Aca|A565T|577|RP4-788L13.1.1|protein_coding|CODING|ENST00000263178|exon_1_99772030_99772111 . . 0/1:99:148,0,255 . 1 99772070 . G A NON_SYNONYMOUS_CODING RP4-788L13.1.1 MODERATE|MISSENSE|aGc/aAc|S441N|605|RP4-788L13.1.1|protein_coding|CODING|ENST00000370184|exon_1_99771241_99775146 . . 0/1:99:148,0,255 . 1 99772070 . G A NON_SYNONYMOUS_CODING RP4-788L13.1.1 MODERATE|MISSENSE|aGc/aAc|S541N|705|RP4-788L13.1.1|protein_coding|CODING|ENST00000457765|exon_1_99771241_99775136 . . 0/1:99:148,0,255 . 1 99772070 . G A NON_SYNONYMOUS_CODING RP4-788L13.1.1 MODERATE|MISSENSE|aGc/aAc|S599N|763|RP4-788L13.1.1|protein_coding|CODING|ENST00000370185|exon_1_99771241_99775146 . . 0/1:99:148,0,255 . 1 100154643 rs150035005 C T NON_SYNONYMOUS_CODING PALMD MODERATE|MISSENSE|aCg/aTg|T276M|551|PALMD|protein_coding|CODING|ENST00000263174|exon_1_100154331_100155428 . . . 0/1:99:244,0,219 1 100349983 rs150441555 C T NON_SYNONYMOUS_CODING AGL MODERATE|MISSENSE|tCt/tTt|S824F|1515|AGL|protein_coding|CODING|ENST00000361522|exon_1_100349895_100350007 . . . 0/1:99:255,0,255 1 100349983 rs150441555 C T NON_SYNONYMOUS_CODING AGL MODERATE|MISSENSE|tCt/tTt|S825F|1516|AGL|protein_coding|CODING|ENST00000361302|exon_1_100349895_100350007 . . . 0/1:99:255,0,255 1 100349983 rs150441555 C T NON_SYNONYMOUS_CODING AGL MODERATE|MISSENSE|tCt/tTt|S825F|1516|AGL|protein_coding|CODING|ENST00000370161|exon_1_100349895_100350007 . . . 0/1:99:255,0,255 1 100349983 rs150441555 C T NON_SYNONYMOUS_CODING AGL MODERATE|MISSENSE|tCt/tTt|S841F|1532|AGL|protein_coding|CODING|ENST00000294724|exon_1_100349895_100350007 . . . 0/1:99:255,0,255 1 100349983 rs150441555 C T NON_SYNONYMOUS_CODING AGL MODERATE|MISSENSE|tCt/tTt|S841F|1532|AGL|protein_coding|CODING|ENST00000361915|exon_1_100349895_100350007 . . . 0/1:99:255,0,255 1 100349983 rs150441555 C T NON_SYNONYMOUS_CODING AGL MODERATE|MISSENSE|tCt/tTt|S841F|1532|AGL|protein_coding|CODING|ENST00000370163|exon_1_100349895_100350007 . . . 0/1:99:255,0,255 1 100349983 rs150441555 C T NON_SYNONYMOUS_CODING AGL MODERATE|MISSENSE|tCt/tTt|S841F|1532|AGL|protein_coding|CODING|ENST00000370165|exon_1_100349895_100350007 . . . 0/1:99:255,0,255 1 100361925 rs2230307 G A NON_SYNONYMOUS_CODING AGL MODERATE|MISSENSE|Gga/Aga|G1098R|1515|AGL|protein_coding|CODING|ENST00000361522|exon_1_100361842_100361944 . . 0/1:99:247,0,225 . 1 100361925 rs2230307 G A NON_SYNONYMOUS_CODING AGL MODERATE|MISSENSE|Gga/Aga|G1099R|1516|AGL|protein_coding|CODING|ENST00000361302|exon_1_100361842_100361944 . . 0/1:99:247,0,225 . 1 100361925 rs2230307 G A NON_SYNONYMOUS_CODING AGL MODERATE|MISSENSE|Gga/Aga|G1099R|1516|AGL|protein_coding|CODING|ENST00000370161|exon_1_100361842_100361944 . . 0/1:99:247,0,225 . 1 100361925 rs2230307 G A NON_SYNONYMOUS_CODING AGL MODERATE|MISSENSE|Gga/Aga|G1115R|1532|AGL|protein_coding|CODING|ENST00000294724|exon_1_100361842_100361944 . . 0/1:99:247,0,225 . 1 100361925 rs2230307 G A NON_SYNONYMOUS_CODING AGL MODERATE|MISSENSE|Gga/Aga|G1115R|1532|AGL|protein_coding|CODING|ENST00000361915|exon_1_100361842_100361944 . . 0/1:99:247,0,225 . 1 100361925 rs2230307 G A NON_SYNONYMOUS_CODING AGL MODERATE|MISSENSE|Gga/Aga|G1115R|1532|AGL|protein_coding|CODING|ENST00000370163|exon_1_100361842_100361944 . . 0/1:99:247,0,225 . 1 100361925 rs2230307 G A NON_SYNONYMOUS_CODING AGL MODERATE|MISSENSE|Gga/Aga|G1115R|1532|AGL|protein_coding|CODING|ENST00000370165|exon_1_100361842_100361944 . . 0/1:99:247,0,225 . 1 100527498 . A T NON_SYNONYMOUS_CODING HIAT1 MODERATE|MISSENSE|tAt/tTt|Y160F|490|HIAT1|protein_coding|CODING|ENST00000370152|exon_1_100527391_100527505 0/1:99:255,0,255 . . . 1 100949960 rs140849467 A G NON_SYNONYMOUS_CODING CDC14A MODERATE|MISSENSE|Att/Gtt|I306V|565|CDC14A|protein_coding|CODING|ENST00000542213|exon_1_100949848_100950007 0/1:99:255,0,255 . . . 1 100949960 rs140849467 A G NON_SYNONYMOUS_CODING CDC14A MODERATE|MISSENSE|Att/Gtt|I364V|383|CDC14A|protein_coding|CODING|ENST00000370124|exon_1_100949848_100950300 0/1:99:255,0,255 . . . 1 100949960 rs140849467 A G NON_SYNONYMOUS_CODING CDC14A MODERATE|MISSENSE|Att/Gtt|I364V|594|CDC14A|protein_coding|CODING|ENST00000336454|exon_1_100949848_100950007 0/1:99:255,0,255 . . . 1 100949960 rs140849467 A G NON_SYNONYMOUS_CODING CDC14A MODERATE|MISSENSE|Att/Gtt|I364V|610|CDC14A|protein_coding|CODING|ENST00000544534|exon_1_100949848_100950007 0/1:99:255,0,255 . . . 1 100949960 rs140849467 A G NON_SYNONYMOUS_CODING CDC14A MODERATE|MISSENSE|Att/Gtt|I364V|623|CDC14A|protein_coding|CODING|ENST00000361544|exon_1_100949848_100950007 0/1:99:255,0,255 . . . 1 103491461 rs12731843 T G NON_SYNONYMOUS_CODING COL11A1 MODERATE|MISSENSE|aaA/aaC|K276N|1818|COL11A1|protein_coding|CODING|ENST00000358392|exon_1_103491356_103491508 . . 0/1:99:255,0,239 . 1 103491461 rs12731843 T G NON_SYNONYMOUS_CODING COL11A1 MODERATE|MISSENSE|aaA/aaC|K276N|568|COL11A1|protein_coding|CODING|ENST00000427239|exon_1_103491356_103491508 . . 0/1:99:255,0,239 . 1 103548497 rs11164663 A C NON_SYNONYMOUS_CODING COL11A1 MODERATE|MISSENSE|gaT/gaG|D46E|1690|COL11A1|protein_coding|CODING|ENST00000512756|exon_1_103548361_103548528 . . . 0/1:99:182,0,245 1 103548497 rs11164663 A C NON_SYNONYMOUS_CODING COL11A1 MODERATE|MISSENSE|gaT/gaG|D46E|1767|COL11A1|protein_coding|CODING|ENST00000353414|exon_1_103548361_103548528 . . . 0/1:99:182,0,245 1 103548497 rs11164663 A C NON_SYNONYMOUS_CODING COL11A1 MODERATE|MISSENSE|gaT/gaG|D46E|1806|COL11A1|protein_coding|CODING|ENST00000370096|exon_1_103548361_103548528 . . . 0/1:99:182,0,245 1 103548497 rs11164663 A C NON_SYNONYMOUS_CODING COL11A1 MODERATE|MISSENSE|gaT/gaG|D46E|1818|COL11A1|protein_coding|CODING|ENST00000358392|exon_1_103548361_103548528 . . . 0/1:99:182,0,245 1 103548497 rs11164663 A C NON_SYNONYMOUS_CODING COL11A1 MODERATE|MISSENSE|gaT/gaG|D46E|568|COL11A1|protein_coding|CODING|ENST00000427239|exon_1_103548361_103548528 . . . 0/1:99:182,0,245 1 104117921 rs140978983 G A NON_SYNONYMOUS_CODING AMY2B MODERATE|MISSENSE|Gga/Aga|G319R|511|AMY2B|protein_coding|CODING|ENST00000361355|exon_1_104117845_104117967 0/1:99:255,0,255 . . . 1 104162351 rs140204075 A G NON_SYNONYMOUS_CODING AMY2A MODERATE|MISSENSE|cAt/cGt|H230R|511|AMY2A|protein_coding|CODING|ENST00000414303|exon_1_104162176_104162406 . . . 0/1:68:94,0,65 1 108771721 rs79996376 T C NON_SYNONYMOUS_CODING NBPF4 MODERATE|MISSENSE|cAg/cGg|Q494R|638|NBPF4|protein_coding|CODING|ENST00000370038|exon_1_108771542_108771778 . 0/1:99:165,0,255 0/1:99:105,0,255 . 1 108771721 rs79996376 T C NON_SYNONYMOUS_CODING NBPF4 MODERATE|MISSENSE|cAg/cGg|Q494R|638|NBPF4|protein_coding|CODING|ENST00000415641|exon_1_108771542_108771778 . 0/1:99:165,0,255 0/1:99:105,0,255 . 1 108771721 rs79996376 T C NON_SYNONYMOUS_CODING NBPF4 MODERATE|MISSENSE|cAg/cGg|Q523R|572|NBPF4|protein_coding|CODING|ENST00000428601|exon_1_108771542_108771778 . 0/1:99:165,0,255 0/1:99:105,0,255 . 1 109200108 rs36100901 C T NON_SYNONYMOUS_CODING HENMT1 MODERATE|MISSENSE|Gtt/Att|V39I|315|HENMT1|protein_coding|CODING|ENST00000420055|exon_1_109200073_109200201 . 0/1:99:255,0,255 . . 1 109200108 rs36100901 C T NON_SYNONYMOUS_CODING HENMT1 MODERATE|MISSENSE|Gtt/Att|V39I|393|HENMT1|protein_coding|CODING|ENST00000370032|exon_1_109200073_109200201 . 0/1:99:255,0,255 . . 1 109200108 rs36100901 C T NON_SYNONYMOUS_CODING HENMT1 MODERATE|MISSENSE|Gtt/Att|V39I|393|HENMT1|protein_coding|CODING|ENST00000402983|exon_1_109200073_109200201 . 0/1:99:255,0,255 . . 1 109200108 rs36100901 C T NON_SYNONYMOUS_CODING HENMT1 MODERATE|MISSENSE|Gtt/Att|V39I|424|HENMT1|protein_coding|CODING|ENST00000370031|exon_1_109200073_109200201 . 0/1:99:255,0,255 . . 1 109268441 rs11582005 G A NON_SYNONYMOUS_CODING FNDC7 MODERATE|MISSENSE|aGt/aAt|S309N|733|FNDC7|protein_coding|CODING|ENST00000370017|exon_1_109268372_109268626 . . . 1/1:99:255,99,0 1 109268441 rs11582005 G A NON_SYNONYMOUS_CODING FNDC7 MODERATE|MISSENSE|aGt/aAt|S310N|734|FNDC7|protein_coding|CODING|ENST00000271311|exon_1_109268372_109268626 . . . 1/1:99:255,99,0 1 109366286 rs7522157 C T NON_SYNONYMOUS_CODING AKNAD1 MODERATE|MISSENSE|tGt/tAt|C361Y|443|AKNAD1|protein_coding|CODING|ENST00000357393|exon_1_109366188_109366310 0/1:99:250,0,255 . . 1/1:99:255,84,0 1 109366286 rs7522157 C T NON_SYNONYMOUS_CODING AKNAD1 MODERATE|MISSENSE|tGt/tAt|C624Y|722|AKNAD1|protein_coding|CODING|ENST00000369994|exon_1_109366188_109366310 0/1:99:250,0,255 . . 1/1:99:255,84,0 1 109366286 rs7522157 C T NON_SYNONYMOUS_CODING AKNAD1 MODERATE|MISSENSE|tGt/tAt|C654Y|761|AKNAD1|protein_coding|CODING|ENST00000369995|exon_1_109366188_109366310 0/1:99:250,0,255 . . 1/1:99:255,84,0 1 109366286 rs7522157 C T NON_SYNONYMOUS_CODING AKNAD1 MODERATE|MISSENSE|tGt/tAt|C654Y|836|AKNAD1|protein_coding|CODING|ENST00000370001|exon_1_109366188_109366310 0/1:99:250,0,255 . . 1/1:99:255,84,0 1 109391662 rs11580913 G C NON_SYNONYMOUS_CODING AKNAD1 MODERATE|MISSENSE|Ctc/Gtc|L352V|722|AKNAD1|protein_coding|CODING|ENST00000369994|exon_1_109391534_109391682 . . . 0/1:99:255,0,247 1 109391662 rs11580913 G C NON_SYNONYMOUS_CODING AKNAD1 MODERATE|MISSENSE|Ctc/Gtc|L352V|761|AKNAD1|protein_coding|CODING|ENST00000369995|exon_1_109391534_109391682 . . . 0/1:99:255,0,247 1 109391662 rs11580913 G C NON_SYNONYMOUS_CODING AKNAD1 MODERATE|MISSENSE|Ctc/Gtc|L352V|836|AKNAD1|protein_coding|CODING|ENST00000370001|exon_1_109391534_109391682 . . . 0/1:99:255,0,247 1 109391662 rs11580913 G C NON_SYNONYMOUS_CODING AKNAD1 MODERATE|MISSENSE|Ctc/Gtc|L59V|443|AKNAD1|protein_coding|CODING|ENST00000357393|exon_1_109391534_109391682 . . . 0/1:99:255,0,247 1 109465165 . ACTTCTTC ACTTC CODON_CHANGE_PLUS_CODON_DELETION GPSM2 MODERATE||tcttcc/tcc|SS524S|684|GPSM2|protein_coding|CODING|ENST00000264126|exon_1_109465039_109465198 0/1:99:255,0,255 . . 0/1:99:255,0,199 1 109465165 . ACTTCTTC ACTTC CODON_CHANGE_PLUS_CODON_DELETION GPSM2 MODERATE||tcttcc/tcc|SS524S|684|GPSM2|protein_coding|CODING|ENST00000406462|exon_1_109465039_109465198 0/1:99:255,0,255 . . 0/1:99:255,0,199 1 109479978 rs168107 G T NON_SYNONYMOUS_CODING CLCC1 MODERATE|MISSENSE|agC/agA|S183R|366|CLCC1|protein_coding|CODING|ENST00000348264|exon_1_109479699_109480040 0/1:99:255,0,175 . . 0/1:99:255,0,134 1 109479978 rs168107 G T NON_SYNONYMOUS_CODING CLCC1 MODERATE|MISSENSE|agC/agA|S183R|366|CLCC1|protein_coding|CODING|ENST00000369968|exon_1_109479699_109480040 0/1:99:255,0,175 . . 0/1:99:255,0,134 1 109479978 rs168107 G T NON_SYNONYMOUS_CODING CLCC1 MODERATE|MISSENSE|agC/agA|S247R|430|CLCC1|protein_coding|CODING|ENST00000302500|exon_1_109479699_109480040 0/1:99:255,0,175 . . 0/1:99:255,0,134 1 109479978 rs168107 G T NON_SYNONYMOUS_CODING CLCC1 MODERATE|MISSENSE|agC/agA|S247R|430|CLCC1|protein_coding|CODING|ENST00000369969|exon_1_109479699_109480040 0/1:99:255,0,175 . . 0/1:99:255,0,134 1 109479978 rs168107 G T NON_SYNONYMOUS_CODING CLCC1 MODERATE|MISSENSE|agC/agA|S318R|501|CLCC1|protein_coding|CODING|ENST00000369970|exon_1_109479699_109480040 0/1:99:255,0,175 . . 0/1:99:255,0,134 1 109479978 rs168107 G T NON_SYNONYMOUS_CODING CLCC1 MODERATE|MISSENSE|agC/agA|S318R|501|CLCC1|protein_coding|CODING|ENST00000415331|exon_1_109479699_109480040 0/1:99:255,0,175 . . 0/1:99:255,0,134 1 109479978 rs168107 G T NON_SYNONYMOUS_CODING CLCC1 MODERATE|MISSENSE|agC/agA|S368R|551|CLCC1|protein_coding|CODING|ENST00000356970|exon_1_109479699_109480040 0/1:99:255,0,175 . . 0/1:99:255,0,134 1 109479978 rs168107 G T NON_SYNONYMOUS_CODING CLCC1 MODERATE|MISSENSE|agC/agA|S368R|551|CLCC1|protein_coding|CODING|ENST00000369971|exon_1_109479699_109480040 0/1:99:255,0,175 . . 0/1:99:255,0,134 1 109635578 rs149500592 A C NON_SYNONYMOUS_CODING TMEM167B MODERATE|MISSENSE|aAa/aCa|K26T|74|TMEM167B|protein_coding|CODING|ENST00000338272|exon_1_109635512_109635643 0/1:99:255,0,228 . . . 1 109649162 rs62623711 G A NON_SYNONYMOUS_CODING C1orf194 MODERATE|MISSENSE|tCc/tTc|S106F|130|C1orf194|protein_coding|CODING|ENST00000369945|exon_1_109649157_109649281 . . . 0/1:99:193,0,255 1 109649162 rs62623711 G A NON_SYNONYMOUS_CODING C1orf194 MODERATE|MISSENSE|tCc/tTc|S133F|157|C1orf194|protein_coding|CODING|ENST00000369949|exon_1_109649157_109649281 . . . 0/1:99:193,0,255 1 109649162 rs62623711 G A NON_SYNONYMOUS_CODING C1orf194 MODERATE|MISSENSE|tCc/tTc|S145F|169|C1orf194|protein_coding|CODING|ENST00000369948|exon_1_109649157_109649281 . . . 0/1:99:193,0,255 1 109779073 rs140717526 G A NON_SYNONYMOUS_CODING SARS MODERATE|MISSENSE|gGa/gAa|G387E|514|SARS|protein_coding|CODING|ENST00000234677|exon_1_109779013_109779170 . 0/1:99:225,0,177 . . 1 109779073 rs140717526 G A NON_SYNONYMOUS_CODING SARS MODERATE|MISSENSE|gGa/gAa|G387E|536|SARS|protein_coding|CODING|ENST00000369923|exon_1_109779013_109779170 . 0/1:99:225,0,177 . . 1 109806313 rs653635 T C NON_SYNONYMOUS_CODING CELSR2 MODERATE|MISSENSE|Tac/Cac|Y1639H|2923|CELSR2|protein_coding|CODING|ENST00000271332|exon_1_109806233_109806399 . 0/1:99:227,0,178 . . 1 110163746 . C G NON_SYNONYMOUS_CODING AMPD2 MODERATE|MISSENSE|gCc/gGc|A6G|804|AMPD2|protein_coding|CODING|ENST00000358729|exon_1_110163696_110163888 0/1:99:172,0,119 . . . 1 110921715 rs2271885 T G NON_SYNONYMOUS_CODING SLC16A4 MODERATE|MISSENSE|Aat/Cat|N154H|382|SLC16A4|protein_coding|CODING|ENST00000437429|exon_1_110921475_110921978 . . . 0/1:99:255,0,255 1 110921715 rs2271885 T G NON_SYNONYMOUS_CODING SLC16A4 MODERATE|MISSENSE|Aat/Cat|N202H|425|SLC16A4|protein_coding|CODING|ENST00000541986|exon_1_110921475_110921978 . . . 0/1:99:255,0,255 1 110921715 rs2271885 T G NON_SYNONYMOUS_CODING SLC16A4 MODERATE|MISSENSE|Aat/Cat|N216H|439|SLC16A4|protein_coding|CODING|ENST00000472422|exon_1_110921475_110921978 . . . 0/1:99:255,0,255 1 110921715 rs2271885 T G NON_SYNONYMOUS_CODING SLC16A4 MODERATE|MISSENSE|Aat/Cat|N264H|487|SLC16A4|protein_coding|CODING|ENST00000369779|exon_1_110921475_110921978 . . . 0/1:99:255,0,255 1 110921715 rs2271885 T G NON_SYNONYMOUS_CODING SLC16A4 MODERATE|MISSENSE|Aat/Cat|N31H|219|SLC16A4|protein_coding|CODING|ENST00000467986|exon_1_110921475_110921805 . . . 0/1:99:255,0,255 1 110950295 rs147214807 C A NON_SYNONYMOUS_CODING HBXIP MODERATE|MISSENSE|gGa/gTa|G65V|173|HBXIP|protein_coding|CODING|ENST00000256644|exon_1_110950208_110950564 . 0/1:99:224,0,122 . . 1 111778325 rs11556868 C T NON_SYNONYMOUS_CODING CHI3L2 MODERATE|MISSENSE|gCg/gTg|A103V|121|CHI3L2|protein_coding|CODING|ENST00000497587|exon_1_111778261_111778385 0/1:99:233,0,255 . . . 1 111778325 rs11556868 C T NON_SYNONYMOUS_CODING CHI3L2 MODERATE|MISSENSE|gCg/gTg|A103V|168|CHI3L2|protein_coding|CODING|ENST00000477185|exon_1_111778261_111778385 0/1:99:233,0,255 . . . 1 111778325 rs11556868 C T NON_SYNONYMOUS_CODING CHI3L2 MODERATE|MISSENSE|gCg/gTg|A103V|311|CHI3L2|protein_coding|CODING|ENST00000466741|exon_1_111778261_111778385 0/1:99:233,0,255 . . . 1 111778325 rs11556868 C T NON_SYNONYMOUS_CODING CHI3L2 MODERATE|MISSENSE|gCg/gTg|A103V|311|CHI3L2|protein_coding|CODING|ENST00000524472|exon_1_111778261_111778385 0/1:99:233,0,255 . . . 1 111778325 rs11556868 C T NON_SYNONYMOUS_CODING CHI3L2 MODERATE|MISSENSE|gCg/gTg|A163V|223|CHI3L2|protein_coding|CODING|ENST00000474304|exon_1_111778261_111778385 0/1:99:233,0,255 . . . 1 111778325 rs11556868 C T NON_SYNONYMOUS_CODING CHI3L2 MODERATE|MISSENSE|gCg/gTg|A172V|380|CHI3L2|protein_coding|CODING|ENST00000369744|exon_1_111778261_111778385 0/1:99:233,0,255 . . . 1 111778325 rs11556868 C T NON_SYNONYMOUS_CODING CHI3L2 MODERATE|MISSENSE|gCg/gTg|A182V|200|CHI3L2|protein_coding|CODING|ENST00000486561|exon_1_111778261_111778385 0/1:99:233,0,255 . . . 1 111778325 rs11556868 C T NON_SYNONYMOUS_CODING CHI3L2 MODERATE|MISSENSE|gCg/gTg|A182V|219|CHI3L2|protein_coding|CODING|ENST00000528451|exon_1_111778261_111778385 0/1:99:233,0,255 . . . 1 111778325 rs11556868 C T NON_SYNONYMOUS_CODING CHI3L2 MODERATE|MISSENSE|gCg/gTg|A182V|390|CHI3L2|protein_coding|CODING|ENST00000369748|exon_1_111778261_111778385 0/1:99:233,0,255 . . . 1 111778325 rs11556868 C T NON_SYNONYMOUS_CODING CHI3L2 MODERATE|MISSENSE|gCg/gTg|A182V|390|CHI3L2|protein_coding|CODING|ENST00000445067|exon_1_111778261_111778385 0/1:99:233,0,255 . . . 1 111778325 rs11556868 C T NON_SYNONYMOUS_CODING CHI3L2 MODERATE|MISSENSE|gCg/gTg|A36V|183|CHI3L2|protein_coding|CODING|ENST00000497220|exon_1_111778261_111778385 0/1:99:233,0,255 . . . 1 111778325 rs11556868 C T NON_SYNONYMOUS_CODING CHI3L2 MODERATE|MISSENSE|gCg/gTg|A84V|144|CHI3L2|protein_coding|CODING|ENST00000467038|exon_1_111778261_111778385 0/1:99:233,0,255 . . . 1 111857208 rs3818822 G A NON_SYNONYMOUS_CODING CHIA MODERATE|MISSENSE|Ggg/Agg|G102R|476|CHIA|protein_coding|CODING|ENST00000343320|exon_1_111857162_111857218 . . 0/1:99:221,0,255 . 1 111857208 rs3818822 G A NON_SYNONYMOUS_CODING CHIA MODERATE|MISSENSE|Ggg/Agg|G102R|476|CHIA|protein_coding|CODING|ENST00000369740|exon_1_111857162_111857218 . . 0/1:99:221,0,255 . 1 111857208 rs3818822 G A NON_SYNONYMOUS_CODING CHIA MODERATE|MISSENSE|Ggg/Agg|G46R|420|CHIA|protein_coding|CODING|ENST00000422815|exon_1_111857162_111857218 . . 0/1:99:221,0,255 . 1 111862042 rs36011905 T C NON_SYNONYMOUS_CODING CHIA MODERATE|MISSENSE|Ttt/Ctt|F216L|286|CHIA|protein_coding|CODING|ENST00000489524|exon_1_111861949_111862090 . . 0/1:99:235,0,255 . 1 111862042 rs36011905 T C NON_SYNONYMOUS_CODING CHIA MODERATE|MISSENSE|Ttt/Ctt|F216L|315|CHIA|protein_coding|CODING|ENST00000353665|exon_1_111861949_111862090 . . 0/1:99:235,0,255 . 1 111862042 rs36011905 T C NON_SYNONYMOUS_CODING CHIA MODERATE|MISSENSE|Ttt/Ctt|F216L|315|CHIA|protein_coding|CODING|ENST00000451398|exon_1_111861949_111862090 . . 0/1:99:235,0,255 . 1 111862042 rs36011905 T C NON_SYNONYMOUS_CODING CHIA MODERATE|MISSENSE|Ttt/Ctt|F216L|315|CHIA|protein_coding|CODING|ENST00000483391|exon_1_111861949_111862090 . . 0/1:99:235,0,255 . 1 111862042 rs36011905 T C NON_SYNONYMOUS_CODING CHIA MODERATE|MISSENSE|Ttt/Ctt|F269L|368|CHIA|protein_coding|CODING|ENST00000430615|exon_1_111861949_111862090 . . 0/1:99:235,0,255 . 1 111862042 rs36011905 T C NON_SYNONYMOUS_CODING CHIA MODERATE|MISSENSE|Ttt/Ctt|F321L|420|CHIA|protein_coding|CODING|ENST00000422815|exon_1_111861949_111862090 . . 0/1:99:235,0,255 . 1 111862042 rs36011905 T C NON_SYNONYMOUS_CODING CHIA MODERATE|MISSENSE|Ttt/Ctt|F377L|476|CHIA|protein_coding|CODING|ENST00000343320|exon_1_111861949_111862090 . . 0/1:99:235,0,255 . 1 111862042 rs36011905 T C NON_SYNONYMOUS_CODING CHIA MODERATE|MISSENSE|Ttt/Ctt|F377L|476|CHIA|protein_coding|CODING|ENST00000369740|exon_1_111861949_111862090 . . 0/1:99:235,0,255 . 1 111957501 . CTCACAGACTGATGACTCACAGGGGTCACAGACTGATGACCCACAGGGGTCA CTCACAGACTGATGACCCACAGGGGTCA CODON_DELETION OVGP1 MODERATE||ggtcatcagtctgtgacccctgtgagt/ggt|GHQSVTPVS336G|486|OVGP1|protein_coding|CODING|ENST00000434331|exon_1_111957026_111957966 . 0/1:67:64,0,255 . . 1 111957501 . CTCACAGACTGATGACTCACAGGGGTCACAGACTGATGACCCACAGGGGTCA CTCACAGACTGATGACCCACAGGGGTCA CODON_DELETION OVGP1 MODERATE||ggtcatcagtctgtgacccctgtgagt/ggt|GHQSVTPVS528G|678|OVGP1|protein_coding|CODING|ENST00000369732|exon_1_111956936_111957966 . 0/1:67:64,0,255 . . 1 111957501 . CTCACAGACTGATGACTCACAGGGGTCACAGACTGATGACCCACAGGGGTCA CTCACAGACTGATGACCCACAGGGGTCA CODON_DELETION OVGP1 MODERATE||ggtcatcagtctgtgacccctgtgagt/ggt|GHQSVTPVS592G|742|OVGP1|protein_coding|CODING|ENST00000369728|exon_1_111956938_111957966 . 0/1:67:64,0,255 . . 1 112999339 rs12137578 A G NON_SYNONYMOUS_CODING CTTNBP2NL MODERATE|MISSENSE|Agt/Ggt|S409G|639|CTTNBP2NL|protein_coding|CODING|ENST00000271277|exon_1_112998553_113003786 . 0/1:99:255,0,146 . . 1 113143420 rs116580400 T C NON_SYNONYMOUS_CODING ST7L MODERATE|MISSENSE|Agg/Ggg|R112G|228|ST7L|protein_coding|CODING|ENST00000369664|exon_1_113143416_113143470 . 0/1:99:255,0,255 . . 1 113143420 rs116580400 T C NON_SYNONYMOUS_CODING ST7L MODERATE|MISSENSE|Agg/Ggg|R112G|499|ST7L|protein_coding|CODING|ENST00000538187|exon_1_113143416_113143470 . 0/1:99:255,0,255 . . 1 113143420 rs116580400 T C NON_SYNONYMOUS_CODING ST7L MODERATE|MISSENSE|Agg/Ggg|R151G|401|ST7L|protein_coding|CODING|ENST00000543570|exon_1_113143416_113143470 . 0/1:99:255,0,255 . . 1 113143420 rs116580400 T C NON_SYNONYMOUS_CODING ST7L MODERATE|MISSENSE|Agg/Ggg|R151G|538|ST7L|protein_coding|CODING|ENST00000369666|exon_1_113143416_113143470 . 0/1:99:255,0,255 . . 1 113143420 rs116580400 T C NON_SYNONYMOUS_CODING ST7L MODERATE|MISSENSE|Agg/Ggg|R151G|558|ST7L|protein_coding|CODING|ENST00000490067|exon_1_113143416_113143470 . 0/1:99:255,0,255 . . 1 113143420 rs116580400 T C NON_SYNONYMOUS_CODING ST7L MODERATE|MISSENSE|Agg/Ggg|R168G|510|ST7L|protein_coding|CODING|ENST00000544629|exon_1_113143416_113143470 . 0/1:99:255,0,255 . . 1 113143420 rs116580400 T C NON_SYNONYMOUS_CODING ST7L MODERATE|MISSENSE|Agg/Ggg|R168G|544|ST7L|protein_coding|CODING|ENST00000360743|exon_1_113143416_113143470 . 0/1:99:255,0,255 . . 1 113143420 rs116580400 T C NON_SYNONYMOUS_CODING ST7L MODERATE|MISSENSE|Agg/Ggg|R168G|555|ST7L|protein_coding|CODING|ENST00000343210|exon_1_113143416_113143470 . 0/1:99:255,0,255 . . 1 113143420 rs116580400 T C NON_SYNONYMOUS_CODING ST7L MODERATE|MISSENSE|Agg/Ggg|R168G|555|ST7L|protein_coding|CODING|ENST00000369668|exon_1_113143416_113143470 . 0/1:99:255,0,255 . . 1 113143420 rs116580400 T C NON_SYNONYMOUS_CODING ST7L MODERATE|MISSENSE|Agg/Ggg|R168G|575|ST7L|protein_coding|CODING|ENST00000358039|exon_1_113143416_113143470 . 0/1:99:255,0,255 . . 1 113143420 rs116580400 T C NON_SYNONYMOUS_CODING ST7L MODERATE|MISSENSE|Agg/Ggg|R46G|320|ST7L|protein_coding|CODING|ENST00000369665|exon_1_113143416_113143470 . 0/1:99:255,0,255 . . 1 113143420 rs116580400 T C NON_SYNONYMOUS_CODING ST7L MODERATE|MISSENSE|Agg/Ggg|R46G|325|ST7L|protein_coding|CODING|ENST00000369673|exon_1_113143416_113143470 . 0/1:99:255,0,255 . . 1 113252851 . CTTGTTGTTG CTTGTTG CODON_DELETION PPM1J MODERATE||cccaac/ccc|PN275P|299|PPM1J|protein_coding|CODING|ENST00000359994|exon_1_113252625_113252932 . . 0/1:99:220,0,255 0/1:99:246,0,255 1 113252851 . CTTGTTGTTG CTTGTTG CODON_DELETION PPM1J MODERATE||cccaac/ccc|PN481P|505|PPM1J|protein_coding|CODING|ENST00000309276|exon_1_113252616_113252932 . . 0/1:99:220,0,255 0/1:99:246,0,255 1 113255456 rs34611728 C A NON_SYNONYMOUS_CODING PPM1J MODERATE|MISSENSE|ttG/ttT|L213F|505|PPM1J|protein_coding|CODING|ENST00000309276|exon_1_113255366_113255653 0/1:99:235,0,170 . . 0/1:71:149,0,68 1 113456649 . T A NON_SYNONYMOUS_CODING SLC16A1 MODERATE|MISSENSE|gAg/gTg|E456V|455|SLC16A1|protein_coding|CODING|ENST00000458229|exon_1_113456647_113456787 . 0/1:99:255,0,231 . . 1 113456649 . T A NON_SYNONYMOUS_CODING SLC16A1 MODERATE|MISSENSE|gAg/gTg|E456V|500|SLC16A1|protein_coding|CODING|ENST00000369626|exon_1_113454469_113456787 . 0/1:99:255,0,231 . . 1 113456649 . T A NON_SYNONYMOUS_CODING SLC16A1 MODERATE|MISSENSE|gAg/gTg|E456V|500|SLC16A1|protein_coding|CODING|ENST00000538576|exon_1_113454474_113456787 . 0/1:99:255,0,231 . . 1 113657233 rs41296184 T G NON_SYNONYMOUS_CODING LRIG2 MODERATE|MISSENSE|gaT/gaG|D755E|1065|LRIG2|protein_coding|CODING|ENST00000361127|exon_1_113657049_113657498 . 0/1:99:253,0,255 . . 1 114680310 rs41274114 G A NON_SYNONYMOUS_CODING SYT6 MODERATE|MISSENSE|aCc/aTc|T208I|425|SYT6|protein_coding|CODING|ENST00000369546|exon_1_114680117_114680675 . . 0/1:99:206,0,184 1/1:99:255,78,0 1 114680310 rs41274114 G A NON_SYNONYMOUS_CODING SYT6 MODERATE|MISSENSE|aCc/aTc|T208I|425|SYT6|protein_coding|CODING|ENST00000369547|exon_1_114680117_114680675 . . 0/1:99:206,0,184 1/1:99:255,78,0 1 114680310 rs41274114 G A NON_SYNONYMOUS_CODING SYT6 MODERATE|MISSENSE|aCc/aTc|T293I|510|SYT6|protein_coding|CODING|ENST00000369545|exon_1_114680117_114680675 . . 0/1:99:206,0,184 1/1:99:255,78,0 1 114680310 rs41274114 G A NON_SYNONYMOUS_CODING SYT6 MODERATE|MISSENSE|aCc/aTc|T293I|510|SYT6|protein_coding|CODING|ENST00000393296|exon_1_114680117_114680675 . . 0/1:99:206,0,184 1/1:99:255,78,0 1 115053498 rs6691166 A G NON_SYNONYMOUS_CODING TRIM33 MODERATE|MISSENSE|gTg/gCg|V67A|1110|TRIM33|protein_coding|CODING|ENST00000369543|exon_1_115053172_115053781 . . 0/1:48:101,0,45 . 1 115053498 rs6691166 A G NON_SYNONYMOUS_CODING TRIM33 MODERATE|MISSENSE|gTg/gCg|V67A|1127|TRIM33|protein_coding|CODING|ENST00000358465|exon_1_115053172_115053781 . . 0/1:48:101,0,45 . 1 115164554 rs56861557 C T NON_SYNONYMOUS_CODING DENND2C MODERATE|MISSENSE|Ggt/Agt|G397S|816|DENND2C|protein_coding|CODING|ENST00000393277|exon_1_115164516_115164686 . 0/1:99:255,0,255 . . 1 115164554 rs56861557 C T NON_SYNONYMOUS_CODING DENND2C MODERATE|MISSENSE|Ggt/Agt|G397S|928|DENND2C|protein_coding|CODING|ENST00000369540|exon_1_115164516_115164686 . 0/1:99:255,0,255 . . 1 115164554 rs56861557 C T NON_SYNONYMOUS_CODING DENND2C MODERATE|MISSENSE|Ggt/Agt|G397S|928|DENND2C|protein_coding|CODING|ENST00000393274|exon_1_115164516_115164686 . 0/1:99:255,0,255 . . 1 115167939 rs61481107 A G NON_SYNONYMOUS_CODING DENND2C MODERATE|MISSENSE|Tct/Cct|S223P|816|DENND2C|protein_coding|CODING|ENST00000393277|exon_1_115167800_115168809 . . 0/1:99:255,0,247 . 1 115167939 rs61481107 A G NON_SYNONYMOUS_CODING DENND2C MODERATE|MISSENSE|Tct/Cct|S223P|871|DENND2C|protein_coding|CODING|ENST00000393276|exon_1_115167800_115168809 . . 0/1:99:255,0,247 . 1 115167939 rs61481107 A G NON_SYNONYMOUS_CODING DENND2C MODERATE|MISSENSE|Tct/Cct|S223P|928|DENND2C|protein_coding|CODING|ENST00000369540|exon_1_115167800_115168814 . . 0/1:99:255,0,247 . 1 115167939 rs61481107 A G NON_SYNONYMOUS_CODING DENND2C MODERATE|MISSENSE|Tct/Cct|S223P|928|DENND2C|protein_coding|CODING|ENST00000393274|exon_1_115167800_115168809 . . 0/1:99:255,0,247 . 1 115527364 rs150731809 C T NON_SYNONYMOUS_CODING SYCP1 MODERATE|MISSENSE|Cca/Tca|P860S|976|SYCP1|protein_coding|CODING|ENST00000369518|exon_1_115527346_115527489 . . . 0/1:99:200,0,255 1 115527364 rs150731809 C T NON_SYNONYMOUS_CODING SYCP1 MODERATE|MISSENSE|Cca/Tca|P860S|976|SYCP1|protein_coding|CODING|ENST00000369522|exon_1_115527346_115527489 . . . 0/1:99:200,0,255 1 117122288 . GTCCTCCTCCTCCTCCTCCTCC GTCCTCCTCCTCCTCCTCCTCCTCC CODON_INSERTION IGSF3 MODERATE||agg/aGGAgg|R1013RR|1194|IGSF3|protein_coding|CODING|ENST00000369486|exon_1_117122014_117122499 0/1:99:255,0,255 . . . 1 117122288 . GTCCTCCTCCTCCTCCTCCTCC GTCCTCCTCCTCCTCCTCCTCCTCC CODON_INSERTION IGSF3 MODERATE||agg/aGGAgg|R1033RR|1214|IGSF3|protein_coding|CODING|ENST00000318837|exon_1_117122014_117122499 0/1:99:255,0,255 . . . 1 117122288 . GTCCTCCTCCTCCTCCTCCTCC GTCCTCCTCCTCCTCCTCCTCCTCC CODON_INSERTION IGSF3 MODERATE||agg/aGGAgg|R1033RR|1214|IGSF3|protein_coding|CODING|ENST00000369483|exon_1_117122014_117122499 0/1:99:255,0,255 . . . 1 117122307 . TCCC TCCCCCC CODON_INSERTION IGSF3 MODERATE||-/GGG|-1013G|1194|IGSF3|protein_coding|CODING|ENST00000369486|exon_1_117122014_117122499 . 0/1:99:108,0,255 . . 1 117122307 . TCCC TCCCCCC CODON_INSERTION IGSF3 MODERATE||-/GGG|-1033G|1214|IGSF3|protein_coding|CODING|ENST00000318837|exon_1_117122014_117122499 . 0/1:99:108,0,255 . . 1 117122307 . TCCC TCCCCCC CODON_INSERTION IGSF3 MODERATE||-/GGG|-1033G|1214|IGSF3|protein_coding|CODING|ENST00000369483|exon_1_117122014_117122499 . 0/1:99:108,0,255 . . 1 117127417 rs41301291 C T NON_SYNONYMOUS_CODING IGSF3 MODERATE|MISSENSE|Gtg/Atg|V900M|1194|IGSF3|protein_coding|CODING|ENST00000369486|exon_1_117127267_117127674 . . 0/1:99:233,0,255 . 1 117127417 rs41301291 C T NON_SYNONYMOUS_CODING IGSF3 MODERATE|MISSENSE|Gtg/Atg|V920M|1214|IGSF3|protein_coding|CODING|ENST00000318837|exon_1_117127267_117127674 . . 0/1:99:233,0,255 . 1 117127417 rs41301291 C T NON_SYNONYMOUS_CODING IGSF3 MODERATE|MISSENSE|Gtg/Atg|V920M|1214|IGSF3|protein_coding|CODING|ENST00000369483|exon_1_117127267_117127674 . . 0/1:99:233,0,255 . 1 117568200 rs2274254 G A NON_SYNONYMOUS_CODING CD101 MODERATE|MISSENSE|cGc/cAc|R833H|1021|CD101|protein_coding|CODING|ENST00000256652|exon_1_117568131_117568526 0/1:99:235,0,255 . . . 1 117568200 rs2274254 G A NON_SYNONYMOUS_CODING CD101 MODERATE|MISSENSE|cGc/cAc|R833H|1021|CD101|protein_coding|CODING|ENST00000369470|exon_1_117568131_117568526 0/1:99:235,0,255 . . . 1 117576522 rs34223095 A T NON_SYNONYMOUS_CODING CD101 MODERATE|MISSENSE|ttA/ttT|L955F|1021|CD101|protein_coding|CODING|ENST00000256652|exon_1_117576482_117576756 . . . 0/1:99:251,0,255 1 117576522 rs34223095 A T NON_SYNONYMOUS_CODING CD101 MODERATE|MISSENSE|ttA/ttT|L955F|1021|CD101|protein_coding|CODING|ENST00000369470|exon_1_117576482_117576756 . . . 0/1:99:251,0,255 1 117635401 rs41306197 G A NON_SYNONYMOUS_CODING TTF2 MODERATE|MISSENSE|Gaa/Aaa|E952K|1162|TTF2|protein_coding|CODING|ENST00000369466|exon_1_117635353_117635523 0/1:99:255,0,255 . . . 1 117659283 rs61758105 C T NON_SYNONYMOUS_CODING TRIM45 MODERATE|MISSENSE|gGa/gAa|G379E|523|TRIM45|protein_coding|CODING|ENST00000369461|exon_1_117659238_117659367 . . . 0/1:99:255,0,255 1 117659283 rs61758105 C T NON_SYNONYMOUS_CODING TRIM45 MODERATE|MISSENSE|gGa/gAa|G418E|562|TRIM45|protein_coding|CODING|ENST00000369464|exon_1_117659238_117659367 . . . 0/1:99:255,0,255 1 117659283 rs61758105 C T NON_SYNONYMOUS_CODING TRIM45 MODERATE|MISSENSE|gGa/gAa|G436E|580|TRIM45|protein_coding|CODING|ENST00000256649|exon_1_117659238_117659367 . . . 0/1:99:255,0,255 1 117659292 rs76902778 C T NON_SYNONYMOUS_CODING TRIM45 MODERATE|MISSENSE|gGc/gAc|G376D|523|TRIM45|protein_coding|CODING|ENST00000369461|exon_1_117659238_117659367 0/1:99:204,0,239 . . . 1 117659292 rs76902778 C T NON_SYNONYMOUS_CODING TRIM45 MODERATE|MISSENSE|gGc/gAc|G415D|562|TRIM45|protein_coding|CODING|ENST00000369464|exon_1_117659238_117659367 0/1:99:204,0,239 . . . 1 117659292 rs76902778 C T NON_SYNONYMOUS_CODING TRIM45 MODERATE|MISSENSE|gGc/gAc|G433D|580|TRIM45|protein_coding|CODING|ENST00000256649|exon_1_117659238_117659367 0/1:99:204,0,239 . . . 1 118166379 rs149654076 G A NON_SYNONYMOUS_CODING FAM46C MODERATE|MISSENSE|Gct/Act|A297T|391|FAM46C|protein_coding|CODING|ENST00000369448|exon_1_118165464_118170994 . 0/1:99:224,0,255 . . 1 118535192 rs138653942 G A NON_SYNONYMOUS_CODING SPAG17 MODERATE|MISSENSE|cCg/cTg|P1753L|2223|SPAG17|protein_coding|CODING|ENST00000336338|exon_1_118535089_118535271 . 0/1:99:241,0,255 . . 1 118535192 rs138653942 G A NON_SYNONYMOUS_CODING SPAG17 MODERATE|MISSENSE|cCg/cTg|P233L|660|SPAG17|protein_coding|CODING|ENST00000437255|exon_1_118535089_118535271 . 0/1:99:241,0,255 . . 1 118657952 rs12133381 C T NON_SYNONYMOUS_CODING SPAG17 MODERATE|MISSENSE|cGa/cAa|R143Q|2223|SPAG17|protein_coding|CODING|ENST00000336338|exon_1_118657933_118658064 1/1:99:255,84,0 . . . 1 120345596 rs12739869 G A NON_SYNONYMOUS_CODING REG4 MODERATE|MISSENSE|cCt/cTt|P87L|134|REG4|protein_coding|CODING|ENST00000369401|exon_1_120343795_120345788 . . . 0/1:99:141,0,255 1 120436751 rs35273427 T C NON_SYNONYMOUS_CODING ADAM30 MODERATE|MISSENSE|Aca/Gca|T737A|781|ADAM30|protein_coding|CODING|ENST00000543066|exon_1_120436683_120438959 . . . 0/1:99:232,0,255 1 120436751 rs35273427 T C NON_SYNONYMOUS_CODING ADAM30 MODERATE|MISSENSE|Aca/Gca|T737A|790|ADAM30|protein_coding|CODING|ENST00000369400|exon_1_120436156_120439118 . . . 0/1:99:232,0,255 1 120437471 rs201129849 T C NON_SYNONYMOUS_CODING ADAM30 MODERATE|MISSENSE|Agg/Ggg|R497G|781|ADAM30|protein_coding|CODING|ENST00000543066|exon_1_120436683_120438959 . . . 0/1:99:255,0,255 1 120437471 rs201129849 T C NON_SYNONYMOUS_CODING ADAM30 MODERATE|MISSENSE|Agg/Ggg|R497G|790|ADAM30|protein_coding|CODING|ENST00000369400|exon_1_120436156_120439118 . . . 0/1:99:255,0,255 1 120469211 rs116408209 C T NON_SYNONYMOUS_CODING NOTCH2 MODERATE|MISSENSE|Gat/Aat|D1306N|2471|NOTCH2|protein_coding|CODING|ENST00000256646|exon_1_120469122_120469234 . . 0/1:99:211,0,240 . 1 120934573 rs201922049 C T NON_SYNONYMOUS_CODING FCGR1B MODERATE|MISSENSE|Gta/Ata|V39I|280|FCGR1B|protein_coding|CODING|ENST00000369384|exon_1_120934381_120934635 . . . 0/1:42:72,0,39 1 143767628 rs6604514 C T NON_SYNONYMOUS_CODING PPIAL4G MODERATE|MISSENSE|gGt/gAt|G74D|164|PPIAL4G|protein_coding|CODING|ENST00000419275|exon_1_143767144_143767881 . 0/1:58:55,0,255 . . 1 143906122 . C A NON_SYNONYMOUS_CODING FAM72D MODERATE|MISSENSE|gGt/gTt|G82V|149|FAM72D|protein_coding|CODING|ENST00000400889|exon_1_143906012_143906136 . 0/1:68:65,0,178 . . 1 144852379 rs113954821 G T NON_SYNONYMOUS_CODING PDE4DIP MODERATE|MISSENSE|cCt/cAt|P2355H|2362|PDE4DIP|protein_coding|CODING|ENST00000369356|exon_1_144851427_144852443 0/1:99:115,0,255 . 0/1:78:75,0,255 . 1 144854581 rs78371650 T C NON_SYNONYMOUS_CODING PDE4DIP MODERATE|MISSENSE|Act/Gct|T2191A|2240|PDE4DIP|protein_coding|CODING|ENST00000313382|exon_1_144854518_144854656 0/1:99:255,0,255 . . . 1 144854581 rs78371650 T C NON_SYNONYMOUS_CODING PDE4DIP MODERATE|MISSENSE|Act/Gct|T2297A|2346|PDE4DIP|protein_coding|CODING|ENST00000369354|exon_1_144854518_144854656 0/1:99:255,0,255 . . . 1 144854581 rs78371650 T C NON_SYNONYMOUS_CODING PDE4DIP MODERATE|MISSENSE|Act/Gct|T2297A|2362|PDE4DIP|protein_coding|CODING|ENST00000369356|exon_1_144854518_144854656 0/1:99:255,0,255 . . . 1 144854581 rs78371650 T C NON_SYNONYMOUS_CODING PDE4DIP MODERATE|MISSENSE|Act/Gct|T2382A|2431|PDE4DIP|protein_coding|CODING|ENST00000530740|exon_1_144854518_144854656 0/1:99:255,0,255 . . . 1 144854581 rs78371650 T C NON_SYNONYMOUS_CODING PDE4DIP MODERATE|MISSENSE|Act/Gct|T2433A|2482|PDE4DIP|protein_coding|CODING|ENST00000369359|exon_1_144854518_144854656 0/1:99:255,0,255 . . . 1 144863438 rs140993521 G T NON_SYNONYMOUS_CODING PDE4DIP MODERATE|MISSENSE|Cag/Aag|Q1883K|2240|PDE4DIP|protein_coding|CODING|ENST00000313382|exon_1_144863318_144863442 . . 0/1:59:56,0,255 . 1 144863438 rs140993521 G T NON_SYNONYMOUS_CODING PDE4DIP MODERATE|MISSENSE|Cag/Aag|Q1989K|2346|PDE4DIP|protein_coding|CODING|ENST00000369354|exon_1_144863318_144863442 . . 0/1:59:56,0,255 . 1 144863438 rs140993521 G T NON_SYNONYMOUS_CODING PDE4DIP MODERATE|MISSENSE|Cag/Aag|Q1989K|2362|PDE4DIP|protein_coding|CODING|ENST00000369356|exon_1_144863318_144863442 . . 0/1:59:56,0,255 . 1 144863438 rs140993521 G T NON_SYNONYMOUS_CODING PDE4DIP MODERATE|MISSENSE|Cag/Aag|Q2074K|2431|PDE4DIP|protein_coding|CODING|ENST00000530740|exon_1_144863318_144863442 . . 0/1:59:56,0,255 . 1 144863438 rs140993521 G T NON_SYNONYMOUS_CODING PDE4DIP MODERATE|MISSENSE|Cag/Aag|Q2125K|2482|PDE4DIP|protein_coding|CODING|ENST00000369359|exon_1_144863318_144863442 . . 0/1:59:56,0,255 . 1 144879339 rs145959230 C T NON_SYNONYMOUS_CODING PDE4DIP MODERATE|MISSENSE|Gtc/Atc|V1327I|2240|PDE4DIP|protein_coding|CODING|ENST00000313382|exon_1_144879035_144879563 0/1:99:113,0,255 . 0/1:99:143,0,255 . 1 144879339 rs145959230 C T NON_SYNONYMOUS_CODING PDE4DIP MODERATE|MISSENSE|Gtc/Atc|V1371I|2346|PDE4DIP|protein_coding|CODING|ENST00000369354|exon_1_144879035_144879563 0/1:99:113,0,255 . 0/1:99:143,0,255 . 1 144879339 rs145959230 C T NON_SYNONYMOUS_CODING PDE4DIP MODERATE|MISSENSE|Gtc/Atc|V1371I|2362|PDE4DIP|protein_coding|CODING|ENST00000369356|exon_1_144879035_144879563 0/1:99:113,0,255 . 0/1:99:143,0,255 . 1 144879339 rs145959230 C T NON_SYNONYMOUS_CODING PDE4DIP MODERATE|MISSENSE|Gtc/Atc|V1507I|2431|PDE4DIP|protein_coding|CODING|ENST00000530740|exon_1_144879035_144879563 0/1:99:113,0,255 . 0/1:99:143,0,255 . 1 144879339 rs145959230 C T NON_SYNONYMOUS_CODING PDE4DIP MODERATE|MISSENSE|Gtc/Atc|V1507I|2482|PDE4DIP|protein_coding|CODING|ENST00000369359|exon_1_144879035_144879563 0/1:99:113,0,255 . 0/1:99:143,0,255 . 1 144906508 rs34169189 C T NON_SYNONYMOUS_CODING PDE4DIP MODERATE|MISSENSE|atG/atA|M570I|740|PDE4DIP|protein_coding|CODING|ENST00000479408|exon_1_144906421_144906537 . . 0/1:99:255,0,255 . 1 144906508 rs34169189 C T NON_SYNONYMOUS_CODING PDE4DIP MODERATE|MISSENSE|atG/atA|M783I|2346|PDE4DIP|protein_coding|CODING|ENST00000369354|exon_1_144906421_144906537 . . 0/1:99:255,0,255 . 1 144906508 rs34169189 C T NON_SYNONYMOUS_CODING PDE4DIP MODERATE|MISSENSE|atG/atA|M783I|2362|PDE4DIP|protein_coding|CODING|ENST00000369356|exon_1_144906421_144906537 . . 0/1:99:255,0,255 . 1 144906508 rs34169189 C T NON_SYNONYMOUS_CODING PDE4DIP MODERATE|MISSENSE|atG/atA|M783I|969|PDE4DIP|protein_coding|CODING|ENST00000369349|exon_1_144906421_144906537 . . 0/1:99:255,0,255 . 1 144906508 rs34169189 C T NON_SYNONYMOUS_CODING PDE4DIP MODERATE|MISSENSE|atG/atA|M783I|988|PDE4DIP|protein_coding|CODING|ENST00000369351|exon_1_144906421_144906537 . . 0/1:99:255,0,255 . 1 144906508 rs34169189 C T NON_SYNONYMOUS_CODING PDE4DIP MODERATE|MISSENSE|atG/atA|M849I|2240|PDE4DIP|protein_coding|CODING|ENST00000313382|exon_1_144906421_144906537 . . 0/1:99:255,0,255 . 1 144906508 rs34169189 C T NON_SYNONYMOUS_CODING PDE4DIP MODERATE|MISSENSE|atG/atA|M920I|2431|PDE4DIP|protein_coding|CODING|ENST00000530740|exon_1_144906421_144906537 . . 0/1:99:255,0,255 . 1 144906508 rs34169189 C T NON_SYNONYMOUS_CODING PDE4DIP MODERATE|MISSENSE|atG/atA|M920I|2482|PDE4DIP|protein_coding|CODING|ENST00000369359|exon_1_144906421_144906537 . . 0/1:99:255,0,255 . 1 144906508 rs34169189 C T NON_SYNONYMOUS_CODING PDE4DIP MODERATE|MISSENSE|atG/atA|M946I|1116|PDE4DIP|protein_coding|CODING|ENST00000529945|exon_1_144906421_144906537 . . 0/1:99:255,0,255 . 1 144906508 rs34169189 C T NON_SYNONYMOUS_CODING PDE4DIP MODERATE|MISSENSE|atG/atA|M946I|1130|PDE4DIP|protein_coding|CODING|ENST00000369353|exon_1_144906421_144906537 . . 0/1:99:255,0,255 . 1 144906508 rs34169189 C T NON_SYNONYMOUS_CODING PDE4DIP MODERATE|MISSENSE|atG/atA|M946I|1132|PDE4DIP|protein_coding|CODING|ENST00000313431|exon_1_144906421_144906537 . . 0/1:99:255,0,255 . 1 145014198 . A C NON_SYNONYMOUS_CODING PDE4DIP MODERATE|MISSENSE|gTt/gGt|V115G|157|PDE4DIP|protein_coding|CODING|ENST00000493130|exon_1_145013831_145014313 . . 0/1:59:56,0,241 . 1 145014199 rs12118314 C A NON_SYNONYMOUS_CODING PDE4DIP MODERATE|MISSENSE|Gtt/Ttt|V115F|157|PDE4DIP|protein_coding|CODING|ENST00000493130|exon_1_145013831_145014313 . . 0/1:99:150,0,255 . 1 145021150 rs11538401 T C NON_SYNONYMOUS_CODING PDE4DIP MODERATE|MISSENSE|gAt/gGt|D13G|136|PDE4DIP|protein_coding|CODING|ENST00000532801|exon_1_145021112_145021167 . . 0/1:99:99,0,255 . 1 145021150 rs11538401 T C NON_SYNONYMOUS_CODING PDE4DIP MODERATE|MISSENSE|gAt/gGt|D13G|157|PDE4DIP|protein_coding|CODING|ENST00000493130|exon_1_145021112_145021167 . . 0/1:99:99,0,255 . 1 145021150 rs11538401 T C NON_SYNONYMOUS_CODING PDE4DIP MODERATE|MISSENSE|gAt/gGt|D13G|2240|PDE4DIP|protein_coding|CODING|ENST00000313382|exon_1_145021112_145021167 . . 0/1:99:99,0,255 . 1 145021150 rs11538401 T C NON_SYNONYMOUS_CODING PDE4DIP MODERATE|MISSENSE|gAt/gGt|D13G|298|PDE4DIP|protein_coding|CODING|ENST00000530078|exon_1_145021112_145021167 . . 0/1:99:99,0,255 . 1 145021150 rs11538401 T C NON_SYNONYMOUS_CODING PDE4DIP MODERATE|MISSENSE|gAt/gGt|D13G|82|PDE4DIP|protein_coding|CODING|ENST00000478649|exon_1_145021112_145021167 . . 0/1:99:99,0,255 . 1 145021150 rs11538401 T C NON_SYNONYMOUS_CODING PDE4DIP MODERATE|MISSENSE|gAt/gGt|D14G|142|PDE4DIP|protein_coding|CODING|ENST00000531369|exon_1_145021112_145021167 . . 0/1:99:99,0,255 . 1 145021150 rs11538401 T C NON_SYNONYMOUS_CODING PDE4DIP MODERATE|MISSENSE|gAt/gGt|D84G|2431|PDE4DIP|protein_coding|CODING|ENST00000530740|exon_1_145021112_145021167 . . 0/1:99:99,0,255 . 1 145021150 rs11538401 T C NON_SYNONYMOUS_CODING PDE4DIP MODERATE|MISSENSE|gAt/gGt|D84G|2482|PDE4DIP|protein_coding|CODING|ENST00000369359|exon_1_145021112_145021167 . . 0/1:99:99,0,255 . 1 145021150 rs11538401 T C NON_SYNONYMOUS_CODING PDE4DIP MODERATE|MISSENSE|gAt/gGt|D84G|310|PDE4DIP|protein_coding|CODING|ENST00000369348|exon_1_145021112_145021167 . . 0/1:99:99,0,255 . 1 145075775 rs76199660 G A NON_SYNONYMOUS_CODING PDE4DIP MODERATE|MISSENSE|Cct/Tct|P30S|109|PDE4DIP|protein_coding|CODING|ENST00000369345|exon_1_145075630_145076077 . . . 0/1:58:55,0,255 1 145075775 rs76199660 G A NON_SYNONYMOUS_CODING PDE4DIP MODERATE|MISSENSE|Cct/Tct|P30S|2431|PDE4DIP|protein_coding|CODING|ENST00000530740|exon_1_145075630_145075901 . . . 0/1:58:55,0,255 1 145075775 rs76199660 G A NON_SYNONYMOUS_CODING PDE4DIP MODERATE|MISSENSE|Cct/Tct|P30S|2482|PDE4DIP|protein_coding|CODING|ENST00000369359|exon_1_145075630_145075901 . . . 0/1:58:55,0,255 1 145075775 rs76199660 G A NON_SYNONYMOUS_CODING PDE4DIP MODERATE|MISSENSE|Cct/Tct|P30S|310|PDE4DIP|protein_coding|CODING|ENST00000369348|exon_1_145075630_145076186 . . . 0/1:58:55,0,255 1 145296424 rs186121989 G T NON_SYNONYMOUS_CODING NBPF10 MODERATE|MISSENSE|Ggg/Tgg|G116W|3553|NBPF10|protein_coding|CODING|ENST00000342960|exon_1_145296357_145296571 . . . 0/1:81:78,0,255 1 145296424 rs186121989 G T NON_SYNONYMOUS_CODING NBPF10 MODERATE|MISSENSE|Ggg/Tgg|G116W|673|NBPF10|protein_coding|CODING|ENST00000369339|exon_1_145296357_145296571 . . . 0/1:81:78,0,255 1 145296424 rs186121989 G T NON_SYNONYMOUS_CODING NBPF10 MODERATE|MISSENSE|Ggg/Tgg|G41W|763|NBPF10|protein_coding|CODING|ENST00000448873|exon_1_145296357_145296571 . . . 0/1:81:78,0,255 1 145311839 rs58277049 A T NON_SYNONYMOUS_CODING NBPF10 MODERATE|MISSENSE|cAg/cTg|Q363L|669|NBPF10|protein_coding|CODING|ENST00000369338|exon_1_145311792_145311958 0/1:57:54,0,69 . . . 1 145311839 rs58277049 A T NON_SYNONYMOUS_CODING NBPF10 MODERATE|MISSENSE|cAg/cTg|Q40L|172|NBPF10|protein_coding|CODING|ENST00000369364|exon_1_145311792_145311958 0/1:57:54,0,69 . . . 1 145311910 . T C NON_SYNONYMOUS_CODING NBPF10 MODERATE|MISSENSE|Ttt/Ctt|F387L|669|NBPF10|protein_coding|CODING|ENST00000369338|exon_1_145311792_145311958 . 0/1:99:116,0,213 . . 1 145311910 . T C NON_SYNONYMOUS_CODING NBPF10 MODERATE|MISSENSE|Ttt/Ctt|F64L|172|NBPF10|protein_coding|CODING|ENST00000369364|exon_1_145311792_145311958 . 0/1:99:116,0,213 . . 1 145326106 rs201097299 A T NON_SYNONYMOUS_CODING NBPF10 MODERATE|MISSENSE|Atg/Ttg|M1327L|3553|NBPF10|protein_coding|CODING|ENST00000342960|exon_1_145325952_145326124 . . 1/1:63:60,39,0 . 1 145329223 . C A NON_SYNONYMOUS_CODING NBPF10 MODERATE|MISSENSE|aaC/aaA|N1475K|3553|NBPF10|protein_coding|CODING|ENST00000342960|exon_1_145329079_145329251 1/1:16:64,9,0 1/1:15:56,9,0 . . 1 145365369 . T G NON_SYNONYMOUS_CODING NBPF10 MODERATE|MISSENSE|Tgt/Ggt|C3332G|3553|NBPF10|protein_coding|CODING|ENST00000342960|exon_1_145365287_145365459 . . . 0/1:43:151,0,40 1 145562087 rs41315701 G A NON_SYNONYMOUS_CODING ANKRD35 MODERATE|MISSENSE|cGa/cAa|R501Q|910|ANKRD35|protein_coding|CODING|ENST00000453670|exon_1_145561096_145563099 . . . 0/1:99:207,0,197 1 145562087 rs41315701 G A NON_SYNONYMOUS_CODING ANKRD35 MODERATE|MISSENSE|cGa/cAa|R592Q|1001|ANKRD35|protein_coding|CODING|ENST00000355594|exon_1_145561096_145563099 . . . 0/1:99:207,0,197 1 145578236 rs142217740 C T NON_SYNONYMOUS_CODING PIAS3 MODERATE|MISSENSE|Cgg/Tgg|R58W|258|PIAS3|protein_coding|CODING|ENST00000393046|exon_1_145578062_145578479 . . . 0/1:99:202,0,255 1 145578236 rs142217740 C T NON_SYNONYMOUS_CODING PIAS3 MODERATE|MISSENSE|Cgg/Tgg|R58W|290|PIAS3|protein_coding|CODING|ENST00000369299|exon_1_145578062_145578479 . . . 0/1:99:202,0,255 1 145578236 rs142217740 C T NON_SYNONYMOUS_CODING PIAS3 MODERATE|MISSENSE|Cgg/Tgg|R67W|593|PIAS3|protein_coding|CODING|ENST00000369298|exon_1_145578062_145578295 . . . 0/1:99:202,0,255 1 145578236 rs142217740 C T NON_SYNONYMOUS_CODING PIAS3 MODERATE|MISSENSE|Cgg/Tgg|R67W|628|PIAS3|protein_coding|CODING|ENST00000393045|exon_1_145578062_145578479 . . . 0/1:99:202,0,255 1 146397362 . A G NON_SYNONYMOUS_CODING NBPF12 MODERATE|MISSENSE|tAt/tGt|Y60C|3331|NBPF12|protein_coding|CODING|ENST00000442909|exon_1_146397359_146397461 0/1:99:198,0,217 . . . 1 146397362 . A G NON_SYNONYMOUS_CODING NBPF12 MODERATE|MISSENSE|tAt/tGt|Y60C|838|NBPF12|protein_coding|CODING|ENST00000446760|exon_1_146397359_146397461 0/1:99:198,0,217 . . . 1 146465204 . A G NON_SYNONYMOUS_CODING NBPF12 MODERATE|MISSENSE|Aaa/Gaa|K3233E|3331|NBPF12|protein_coding|CODING|ENST00000442909|exon_1_146465151_146465259 1/1:16:69,9,0 . . 0/1:7:52,0,4 1 146714427 rs11588753 G C NON_SYNONYMOUS_CODING CHD1L MODERATE|MISSENSE|cGa/cCa|R25P|693|CHD1L|protein_coding|CODING|ENST00000369259|exon_1_146714291_146714480 . . 0/1:99:231,0,223 . 1 146714427 rs11588753 G C NON_SYNONYMOUS_CODING CHD1L MODERATE|MISSENSE|cGa/cCa|R25P|803|CHD1L|protein_coding|CODING|ENST00000431239|exon_1_146714291_146714480 . . 0/1:99:231,0,223 . 1 146714427 rs11588753 G C NON_SYNONYMOUS_CODING CHD1L MODERATE|MISSENSE|cGa/cCa|R25P|897|CHD1L|protein_coding|CODING|ENST00000369258|exon_1_146714334_146714480 . . 0/1:99:231,0,223 . 1 146759320 rs2275249 C G NON_SYNONYMOUS_CODING CHD1L MODERATE|MISSENSE|tCt/tGt|S462C|616|CHD1L|protein_coding|CODING|ENST00000361293|exon_1_146759314_146759412 . . 0/1:99:215,0,255 . 1 146759320 rs2275249 C G NON_SYNONYMOUS_CODING CHD1L MODERATE|MISSENSE|tCt/tGt|S539C|693|CHD1L|protein_coding|CODING|ENST00000369259|exon_1_146759314_146759412 . . 0/1:99:215,0,255 . 1 146759320 rs2275249 C G NON_SYNONYMOUS_CODING CHD1L MODERATE|MISSENSE|tCt/tGt|S649C|803|CHD1L|protein_coding|CODING|ENST00000431239|exon_1_146759314_146759412 . . 0/1:99:215,0,255 . 1 146759320 rs2275249 C G NON_SYNONYMOUS_CODING CHD1L MODERATE|MISSENSE|tCt/tGt|S743C|897|CHD1L|protein_coding|CODING|ENST00000369258|exon_1_146759314_146759412 . . 0/1:99:215,0,255 . 1 148004763 rs147791792 C T NON_SYNONYMOUS_CODING NBPF14 MODERATE|MISSENSE|Gag/Aag|E199K|269|NBPF14|protein_coding|CODING|ENST00000369368|exon_1_148004099_148004791 . . . 0/1:99:229,0,193 1 148004763 rs147791792 C T NON_SYNONYMOUS_CODING NBPF14 MODERATE|MISSENSE|Gag/Aag|E851K|921|NBPF14|protein_coding|CODING|ENST00000369219|exon_1_148003660_148004791 . . . 0/1:99:229,0,193 1 148015634 rs200156420 T C NON_SYNONYMOUS_CODING NBPF14 MODERATE|MISSENSE|Aac/Gac|N333D|921|NBPF14|protein_coding|CODING|ENST00000369219|exon_1_148015625_148015797 . . 0/1:99:102,0,98 . 1 149676293 rs200272225 C A NON_SYNONYMOUS_CODING AL358813.2 MODERATE|MISSENSE|cCt/cAt|P75H|169|AL358813.2|protein_coding|CODING|ENST00000369173|exon_1_149675978_149676609 . . . 0/1:99:123,0,255 1 150276554 rs12749958 C G NON_SYNONYMOUS_CODING AL138795.1 MODERATE|MISSENSE|Gtt/Ctt|V54L|105|AL138795.1|protein_coding|CODING|ENST00000366377|exon_1_150276521_150276625 . . . 0/1:99:203,0,230 1 150280550 rs4845 G A NON_SYNONYMOUS_CODING MRPS21 MODERATE|MISSENSE|cGg/cAg|R51Q|87|MRPS21|protein_coding|CODING|ENST00000309092|exon_1_150280482_150281414 . . . 0/1:99:128,0,213 1 150280550 rs4845 G A NON_SYNONYMOUS_CODING MRPS21 MODERATE|MISSENSE|cGg/cAg|R51Q|87|MRPS21|protein_coding|CODING|ENST00000369084|exon_1_150280482_150281414 . . . 0/1:99:128,0,213 1 150484844 rs151102225 A T NON_SYNONYMOUS_CODING ECM1 MODERATE|MISSENSE|gAc/gTc|D242V|415|ECM1|protein_coding|CODING|ENST00000346569|exon_1_150484828_150485048 . 0/1:99:172,0,230 . . 1 150484844 rs151102225 A T NON_SYNONYMOUS_CODING ECM1 MODERATE|MISSENSE|gAc/gTc|D367V|540|ECM1|protein_coding|CODING|ENST00000369047|exon_1_150484828_150485048 . 0/1:99:172,0,230 . . 1 150484844 rs151102225 A T NON_SYNONYMOUS_CODING ECM1 MODERATE|MISSENSE|gAc/gTc|D394V|567|ECM1|protein_coding|CODING|ENST00000369049|exon_1_150484828_150485048 . 0/1:99:172,0,230 . . 1 150551463 . T G NON_SYNONYMOUS_CODING MCL1 MODERATE|MISSENSE|Atc/Ctc|I111L|279|MCL1|protein_coding|CODING|ENST00000439749|exon_1_150551319_150551679 . . 0/1:99:180,0,228 . 1 150551463 . T G NON_SYNONYMOUS_CODING MCL1 MODERATE|MISSENSE|Atc/Ctc|I182L|271|MCL1|protein_coding|CODING|ENST00000307940|exon_1_150551319_150552006 . . 0/1:99:180,0,228 . 1 150551463 . T G NON_SYNONYMOUS_CODING MCL1 MODERATE|MISSENSE|Atc/Ctc|I182L|350|MCL1|protein_coding|CODING|ENST00000369026|exon_1_150551319_150552066 . . 0/1:99:180,0,228 . 1 150599849 rs78646592 C T NON_SYNONYMOUS_CODING ENSA MODERATE|MISSENSE|Gtt/Att|V93I|105|ENSA|protein_coding|CODING|ENST00000362052|exon_1_150599530_150600068 . 0/1:99:255,0,242 . . 1 150599849 rs78646592 C T NON_SYNONYMOUS_CODING ENSA MODERATE|MISSENSE|Gtt/Att|V93I|105|ENSA|protein_coding|CODING|ENST00000503345|exon_1_150599788_150600068 . 0/1:99:255,0,242 . . 1 151015868 rs12068365 G A NON_SYNONYMOUS_CODING BNIPL MODERATE|MISSENSE|aGc/aAc|S144N|275|BNIPL|protein_coding|CODING|ENST00000295294|exon_1_151015808_151015910 . . 0/1:99:255,0,255 0/1:99:198,0,255 1 151015868 rs12068365 G A NON_SYNONYMOUS_CODING BNIPL MODERATE|MISSENSE|aGc/aAc|S224N|355|BNIPL|protein_coding|CODING|ENST00000361277|exon_1_151015808_151015910 . . 0/1:99:255,0,255 0/1:99:198,0,255 1 151015868 rs12068365 G A NON_SYNONYMOUS_CODING BNIPL MODERATE|MISSENSE|aGc/aAc|S226N|357|BNIPL|protein_coding|CODING|ENST00000368931|exon_1_151015808_151015910 . . 0/1:99:255,0,255 0/1:99:198,0,255 1 151062957 rs11204774 G A NON_SYNONYMOUS_CODING GABPB2 MODERATE|MISSENSE|Gtt/Att|V62I|410|GABPB2|protein_coding|CODING|ENST00000368916|exon_1_151062882_151063049 . . 0/1:99:255,0,133 0/1:99:215,0,207 1 151062957 rs11204774 G A NON_SYNONYMOUS_CODING GABPB2 MODERATE|MISSENSE|Gtt/Att|V62I|410|GABPB2|protein_coding|CODING|ENST00000368917|exon_1_151062882_151063049 . . 0/1:99:255,0,133 0/1:99:215,0,207 1 151062957 rs11204774 G A NON_SYNONYMOUS_CODING GABPB2 MODERATE|MISSENSE|Gtt/Att|V62I|448|GABPB2|protein_coding|CODING|ENST00000368918|exon_1_151062882_151063049 . . 0/1:99:255,0,133 0/1:99:215,0,207 1 151062957 rs11204774 G A NON_SYNONYMOUS_CODING GABPB2 MODERATE|MISSENSE|Gtt/Att|V78I|395|GABPB2|protein_coding|CODING|ENST00000446567|exon_1_151062882_151063049 . . 0/1:99:255,0,133 0/1:99:215,0,207 1 151089885 rs62621412 G C NON_SYNONYMOUS_CODING GABPB2 MODERATE|MISSENSE|Ggt/Cgt|G276R|410|GABPB2|protein_coding|CODING|ENST00000368916|exon_1_151089868_151089992 0/1:99:255,0,253 . . . 1 151089885 rs62621412 G C NON_SYNONYMOUS_CODING GABPB2 MODERATE|MISSENSE|Ggt/Cgt|G276R|410|GABPB2|protein_coding|CODING|ENST00000368917|exon_1_151089868_151089992 0/1:99:255,0,253 . . . 1 151089885 rs62621412 G C NON_SYNONYMOUS_CODING GABPB2 MODERATE|MISSENSE|Ggt/Cgt|G314R|448|GABPB2|protein_coding|CODING|ENST00000368918|exon_1_151089868_151089992 0/1:99:255,0,253 . . . 1 151089888 rs59454556 A C NON_SYNONYMOUS_CODING GABPB2 MODERATE|MISSENSE|Aag/Cag|K277Q|410|GABPB2|protein_coding|CODING|ENST00000368916|exon_1_151089868_151089992 0/1:99:255,0,237 . . . 1 151089888 rs59454556 A C NON_SYNONYMOUS_CODING GABPB2 MODERATE|MISSENSE|Aag/Cag|K277Q|410|GABPB2|protein_coding|CODING|ENST00000368917|exon_1_151089868_151089992 0/1:99:255,0,237 . . . 1 151089888 rs59454556 A C NON_SYNONYMOUS_CODING GABPB2 MODERATE|MISSENSE|Aag/Cag|K315Q|448|GABPB2|protein_coding|CODING|ENST00000368918|exon_1_151089868_151089992 0/1:99:255,0,237 . . . 1 151112483 rs75185260 T C NON_SYNONYMOUS_CODING SEMA6C MODERATE|MISSENSE|Acc/Gcc|T68A|537|SEMA6C|protein_coding|CODING|ENST00000392792|exon_1_151112452_151112566 0/1:99:170,0,252 . . . 1 151112483 rs75185260 T C NON_SYNONYMOUS_CODING SEMA6C MODERATE|MISSENSE|Acc/Gcc|T68A|922|SEMA6C|protein_coding|CODING|ENST00000368912|exon_1_151112452_151112566 0/1:99:170,0,252 . . . 1 151112483 rs75185260 T C NON_SYNONYMOUS_CODING SEMA6C MODERATE|MISSENSE|Acc/Gcc|T68A|930|SEMA6C|protein_coding|CODING|ENST00000341697|exon_1_151112452_151112566 0/1:99:170,0,252 . . . 1 151112483 rs75185260 T C NON_SYNONYMOUS_CODING SEMA6C MODERATE|MISSENSE|Acc/Gcc|T68A|930|SEMA6C|protein_coding|CODING|ENST00000368914|exon_1_151112452_151112566 0/1:99:170,0,252 . . . 1 151112483 rs75185260 T C NON_SYNONYMOUS_CODING SEMA6C MODERATE|MISSENSE|Acc/Gcc|T68A|962|SEMA6C|protein_coding|CODING|ENST00000368913|exon_1_151112452_151112566 0/1:99:170,0,252 . . . 1 151342263 rs41285000 C T NON_SYNONYMOUS_CODING SELENBP1 MODERATE|MISSENSE|cGc/cAc|R38H|348|SELENBP1|protein_coding|CODING|ENST00000426705|exon_1_151342189_151342454 . 0/1:99:161,0,224 . . 1 151502427 rs34834099 C T NON_SYNONYMOUS_CODING CGN MODERATE|MISSENSE|Cgg/Tgg|R717W|1203|CGN|protein_coding|CODING|ENST00000271636|exon_1_151502385_151502591 . . 0/1:99:173,0,201 0/1:99:173,0,183 1 151554656 rs201617051 T G NON_SYNONYMOUS_CODING TUFT1 MODERATE|MISSENSE|tgT/tgG|C161W|180|TUFT1|protein_coding|CODING|ENST00000544350|exon_1_151554556_151555106 0/1:99:255,0,255 . . . 1 151683005 . T G NON_SYNONYMOUS_CODING AL589765.1 MODERATE|MISSENSE|Tgg/Ggg|W13G|137|AL589765.1|protein_coding|CODING|ENST00000442233|exon_1_151682909_151683850 0/1:62:70,0,59 . . . 1 151735594 rs149861640 T A NON_SYNONYMOUS_CODING MRPL9 MODERATE|MISSENSE|aAg/aTg|K61M|233|MRPL9|protein_coding|CODING|ENST00000368829|exon_1_151735466_151735622 0/1:99:129,0,164 . . . 1 151735594 rs149861640 T A NON_SYNONYMOUS_CODING MRPL9 MODERATE|MISSENSE|aAg/aTg|K61M|267|MRPL9|protein_coding|CODING|ENST00000368830|exon_1_151735466_151735622 0/1:99:129,0,164 . . . 1 151748668 rs201246775 C T NON_SYNONYMOUS_CODING TDRKH MODERATE|MISSENSE|cGg/cAg|R150Q|337|TDRKH|protein_coding|CODING|ENST00000440583|exon_1_151748572_151748744 . . . 0/1:99:255,0,255 1 151748668 rs201246775 C T NON_SYNONYMOUS_CODING TDRKH MODERATE|MISSENSE|cGg/cAg|R329Q|516|TDRKH|protein_coding|CODING|ENST00000368825|exon_1_151748572_151748744 . . . 0/1:99:255,0,255 1 151748668 rs201246775 C T NON_SYNONYMOUS_CODING TDRKH MODERATE|MISSENSE|cGg/cAg|R370Q|557|TDRKH|protein_coding|CODING|ENST00000368823|exon_1_151748572_151748744 . . . 0/1:99:255,0,255 1 151748668 rs201246775 C T NON_SYNONYMOUS_CODING TDRKH MODERATE|MISSENSE|cGg/cAg|R374Q|561|TDRKH|protein_coding|CODING|ENST00000368822|exon_1_151748572_151748744 . . . 0/1:99:255,0,255 1 151748668 rs201246775 C T NON_SYNONYMOUS_CODING TDRKH MODERATE|MISSENSE|cGg/cAg|R374Q|561|TDRKH|protein_coding|CODING|ENST00000368824|exon_1_151748572_151748744 . . . 0/1:99:255,0,255 1 151748668 rs201246775 C T NON_SYNONYMOUS_CODING TDRKH MODERATE|MISSENSE|cGg/cAg|R374Q|561|TDRKH|protein_coding|CODING|ENST00000368827|exon_1_151748572_151748744 . . . 0/1:99:255,0,255 1 151748668 rs201246775 C T NON_SYNONYMOUS_CODING TDRKH MODERATE|MISSENSE|cGg/cAg|R374Q|561|TDRKH|protein_coding|CODING|ENST00000458431|exon_1_151748572_151748744 . . . 0/1:99:255,0,255 1 151751274 rs17853082 C G NON_SYNONYMOUS_CODING TDRKH MODERATE|MISSENSE|gGa/gCa|G212A|516|TDRKH|protein_coding|CODING|ENST00000368825|exon_1_151751161_151751482 . . . 0/1:99:183,0,255 1 151751274 rs17853082 C G NON_SYNONYMOUS_CODING TDRKH MODERATE|MISSENSE|gGa/gCa|G253A|557|TDRKH|protein_coding|CODING|ENST00000368823|exon_1_151751161_151751482 . . . 0/1:99:183,0,255 1 151751274 rs17853082 C G NON_SYNONYMOUS_CODING TDRKH MODERATE|MISSENSE|gGa/gCa|G257A|561|TDRKH|protein_coding|CODING|ENST00000368822|exon_1_151751161_151751482 . . . 0/1:99:183,0,255 1 151751274 rs17853082 C G NON_SYNONYMOUS_CODING TDRKH MODERATE|MISSENSE|gGa/gCa|G257A|561|TDRKH|protein_coding|CODING|ENST00000368824|exon_1_151751161_151751482 . . . 0/1:99:183,0,255 1 151751274 rs17853082 C G NON_SYNONYMOUS_CODING TDRKH MODERATE|MISSENSE|gGa/gCa|G257A|561|TDRKH|protein_coding|CODING|ENST00000368827|exon_1_151751161_151751482 . . . 0/1:99:183,0,255 1 151751274 rs17853082 C G NON_SYNONYMOUS_CODING TDRKH MODERATE|MISSENSE|gGa/gCa|G257A|561|TDRKH|protein_coding|CODING|ENST00000458431|exon_1_151751161_151751482 . . . 0/1:99:183,0,255 1 151751274 rs17853082 C G NON_SYNONYMOUS_CODING TDRKH MODERATE|MISSENSE|gGa/gCa|G33A|337|TDRKH|protein_coding|CODING|ENST00000440583|exon_1_151751161_151751482 . . . 0/1:99:183,0,255 1 151789161 . C T NON_SYNONYMOUS_CODING RORC MODERATE|MISSENSE|Gcg/Acg|A147T|572|RORC|protein_coding|CODING|ENST00000392697|exon_1_151789140_151789281 . . . 0/1:99:149,0,195 1 151789161 . C T NON_SYNONYMOUS_CODING RORC MODERATE|MISSENSE|Gcg/Acg|A72T|497|RORC|protein_coding|CODING|ENST00000356728|exon_1_151789140_151789281 . . . 0/1:99:149,0,195 1 151789161 . C T NON_SYNONYMOUS_CODING RORC MODERATE|MISSENSE|Gcg/Acg|A93T|518|RORC|protein_coding|CODING|ENST00000318247|exon_1_151789140_151789281 . . . 0/1:99:149,0,195 1 152082389 . T C NON_SYNONYMOUS_CODING TCHH MODERATE|MISSENSE|Agg/Ggg|R1102G|1943|TCHH|protein_coding|CODING|ENST00000368804|exon_1_152078793_152085554 . . 0/1:99:151,0,215 . 1 152084080 rs199577810 A G NON_SYNONYMOUS_CODING TCHH MODERATE|MISSENSE|cTa/cCa|L538P|1943|TCHH|protein_coding|CODING|ENST00000368804|exon_1_152078793_152085554 . . 0/1:99:248,0,121 . 1 152084693 . TCTCCTCCT TCTCCT CODON_DELETION TCHH MODERATE||caggag/cag|QE331Q|1943|TCHH|protein_coding|CODING|ENST00000368804|exon_1_152078793_152085554 . . 0/1:99:255,0,255 . 1 152127455 rs75957773 T C NON_SYNONYMOUS_CODING RPTN MODERATE|MISSENSE|gAa/gGa|E362G|439|RPTN|protein_coding|CODING|ENST00000541545|exon_1_152126726_152128549 0/1:99:184,0,255 0/1:99:225,0,219 . . 1 152127455 rs75957773 T C NON_SYNONYMOUS_CODING RPTN MODERATE|MISSENSE|gAa/gGa|E707G|784|RPTN|protein_coding|CODING|ENST00000316073|exon_1_152126071_152129436 0/1:99:184,0,255 0/1:99:225,0,219 . . 1 152129087 rs78544048 T C NON_SYNONYMOUS_CODING RPTN MODERATE|MISSENSE|aAa/aGa|K163R|784|RPTN|protein_coding|CODING|ENST00000316073|exon_1_152126071_152129436 0/1:99:169,0,232 0/1:99:116,0,255 . . 1 152129094 rs76015112 A G NON_SYNONYMOUS_CODING RPTN MODERATE|MISSENSE|Tct/Cct|S161P|784|RPTN|protein_coding|CODING|ENST00000316073|exon_1_152126071_152129436 0/1:99:132,0,247 0/1:90:87,0,255 . . 1 152187276 rs199952550 C T NON_SYNONYMOUS_CODING HRNR MODERATE|MISSENSE|Ggt/Agt|G2277S|2850|HRNR|protein_coding|CODING|ENST00000368801|exon_1_152184558_152193966 0/1:57:84,0,54 . . . 1 152187810 rs145371085 G A NON_SYNONYMOUS_CODING HRNR MODERATE|MISSENSE|Cct/Tct|P2099S|2850|HRNR|protein_coding|CODING|ENST00000368801|exon_1_152184558_152193966 . . 1/1:85:81,45,0 . 1 152188413 rs200760332 C T NON_SYNONYMOUS_CODING HRNR MODERATE|MISSENSE|Gaa/Aaa|E1898K|2850|HRNR|protein_coding|CODING|ENST00000368801|exon_1_152184558_152193966 0/1:86:83,0,157 . . . 1 152189055 rs4845749 G C,A NON_SYNONYMOUS_CODING HRNR MODERATE|MISSENSE|Cgt/Ggt|R1684G|2850|HRNR|protein_coding|CODING|ENST00000368801|exon_1_152184558_152193966 . . . 1/1:74:56,54,0,51,37,48 1 152189055 rs4845749 G C,A NON_SYNONYMOUS_CODING HRNR MODERATE|MISSENSE|Cgt/Tgt|R1684C|2850|HRNR|protein_coding|CODING|ENST00000368801|exon_1_152184558_152193966 . . . 1/1:74:56,54,0,51,37,48 1 152190452 rs140247939 T C NON_SYNONYMOUS_CODING HRNR MODERATE|MISSENSE|cAc/cGc|H1218R|2850|HRNR|protein_coding|CODING|ENST00000368801|exon_1_152184558_152193966 . 1/1:42:57,24,0 1/1:38:58,21,0 . 1 152190945 rs77376932 C T NON_SYNONYMOUS_CODING HRNR MODERATE|MISSENSE|Gag/Aag|E1054K|2850|HRNR|protein_coding|CODING|ENST00000368801|exon_1_152184558_152193966 1/1:43:255,23,0 0/1:99:166,0,226 . . 1 152192555 rs41266134 T C NON_SYNONYMOUS_CODING HRNR MODERATE|MISSENSE|tAt/tGt|Y517C|2850|HRNR|protein_coding|CODING|ENST00000368801|exon_1_152184558_152193966 1/1:99:255,93,0 0/1:99:209,0,187 . . 1 152276149 rs77422831 C T NON_SYNONYMOUS_CODING FLG MODERATE|MISSENSE|cGc/cAc|R3738H|4061|FLG|protein_coding|CODING|ENST00000368799|exon_1_152274651_152287223 1/1:99:255,63,0 0/1:99:112,0,243 . . 1 152276699 rs12728605 A G NON_SYNONYMOUS_CODING FLG MODERATE|MISSENSE|Tgg/Cgg|W3555R|4061|FLG|protein_coding|CODING|ENST00000368799|exon_1_152274651_152287223 0/1:91:88,0,110 . . . 1 152276772 rs72697000 C A NON_SYNONYMOUS_CODING FLG MODERATE|MISSENSE|agG/agT|R3530S|4061|FLG|protein_coding|CODING|ENST00000368799|exon_1_152274651_152287223 1/1:93:224,48,0 0/1:71:68,0,108 . . 1 152277055 rs2065955 C G NON_SYNONYMOUS_CODING FLG MODERATE|MISSENSE|gGa/gCa|G3436A|4061|FLG|protein_coding|CODING|ENST00000368799|exon_1_152274651_152287223 1/1:99:255,58,0 0/1:90:131,0,87 . . 1 152277826 rs2065957 A C NON_SYNONYMOUS_CODING FLG MODERATE|MISSENSE|gTg/gGg|V3179G|4061|FLG|protein_coding|CODING|ENST00000368799|exon_1_152274651_152287223 1/1:81:160,42,0 0/1:64:61,0,255 . . 1 152277884 rs145597576 T A NON_SYNONYMOUS_CODING FLG MODERATE|MISSENSE|Agt/Tgt|S3160C|4061|FLG|protein_coding|CODING|ENST00000368799|exon_1_152274651_152287223 . 0/1:90:243,0,87 . . 1 152278049 rs2065958 A C NON_SYNONYMOUS_CODING FLG MODERATE|MISSENSE|Tac/Gac|Y3105D|4061|FLG|protein_coding|CODING|ENST00000368799|exon_1_152274651_152287223 1/1:33:111,18,0 . . . 1 152278555 rs80221306 T C NON_SYNONYMOUS_CODING FLG MODERATE|MISSENSE|gAc/gGc|D2936G|4061|FLG|protein_coding|CODING|ENST00000368799|exon_1_152274651_152287223 0/1:79:76,0,87 . . . 1 152278814 rs2184952 C T NON_SYNONYMOUS_CODING FLG MODERATE|MISSENSE|Ggc/Agc|G112S|321|FLG|protein_coding|CODING|ENST00000368796|exon_1_152278645_152279147 0/1:89:86,0,255 . . . 1 152278814 rs2184952 C T NON_SYNONYMOUS_CODING FLG MODERATE|MISSENSE|Ggc/Agc|G2850S|4061|FLG|protein_coding|CODING|ENST00000368799|exon_1_152274651_152287223 0/1:89:86,0,255 . . . 1 152278856 rs11582087 T G NON_SYNONYMOUS_CODING FLG MODERATE|MISSENSE|Agt/Cgt|S2836R|4061|FLG|protein_coding|CODING|ENST00000368799|exon_1_152274651_152287223 0/1:99:105,0,227 0/1:99:128,0,185 . . 1 152278856 rs11582087 T G NON_SYNONYMOUS_CODING FLG MODERATE|MISSENSE|Agt/Cgt|S98R|321|FLG|protein_coding|CODING|ENST00000368796|exon_1_152278645_152279147 0/1:99:105,0,227 0/1:99:128,0,185 . . 1 152279729 rs3126072 C T NON_SYNONYMOUS_CODING FLG MODERATE|MISSENSE|Gga/Aga|G2545R|4061|FLG|protein_coding|CODING|ENST00000368799|exon_1_152274651_152287223 1/1:99:255,75,0 0/1:99:255,0,183 . . 1 152279841 rs3126074 G C NON_SYNONYMOUS_CODING FLG MODERATE|MISSENSE|caC/caG|H2507Q|4061|FLG|protein_coding|CODING|ENST00000368799|exon_1_152274651_152287223 1/1:99:255,66,0 0/1:99:214,0,236 . . 1 152279920 rs55650366 A G NON_SYNONYMOUS_CODING FLG MODERATE|MISSENSE|tTg/tCg|L2481S|4061|FLG|protein_coding|CODING|ENST00000368799|exon_1_152274651_152287223 1/1:99:255,84,0 0/1:99:203,0,255 . . 1 152280032 rs71625200 T C NON_SYNONYMOUS_CODING FLG MODERATE|MISSENSE|Aag/Gag|K2444E|4061|FLG|protein_coding|CODING|ENST00000368799|exon_1_152274651_152287223 1/1:99:255,60,0 0/1:99:223,0,217 . . 1 152280170 rs71625201 C G NON_SYNONYMOUS_CODING FLG MODERATE|MISSENSE|Gag/Cag|E2398Q|4061|FLG|protein_coding|CODING|ENST00000368799|exon_1_152274651_152287223 0/1:59:215,0,56 0/1:99:163,0,215 . . 1 152280170 rs71625201 C G NON_SYNONYMOUS_CODING FLG MODERATE|MISSENSE|Gag/Cag|E308Q|321|FLG|protein_coding|CODING|ENST00000271820|exon_1_152280126_152280588 0/1:59:215,0,56 0/1:99:163,0,215 . . 1 152280265 rs71625202 C G NON_SYNONYMOUS_CODING FLG MODERATE|MISSENSE|aGt/aCt|S2366T|4061|FLG|protein_coding|CODING|ENST00000368799|exon_1_152274651_152287223 1/1:81:255,42,0 0/1:99:170,0,194 . . 1 152280265 rs71625202 C G NON_SYNONYMOUS_CODING FLG MODERATE|MISSENSE|aGt/aCt|S276T|321|FLG|protein_coding|CODING|ENST00000271820|exon_1_152280126_152280588 1/1:81:255,42,0 0/1:99:170,0,194 . . 1 152280347 rs139476473 C T NON_SYNONYMOUS_CODING FLG MODERATE|MISSENSE|Gac/Aac|D2339N|4061|FLG|protein_coding|CODING|ENST00000368799|exon_1_152274651_152287223 0/1:31:204,0,28 0/1:99:177,0,255 . . 1 152280347 rs139476473 C T NON_SYNONYMOUS_CODING FLG MODERATE|MISSENSE|Gac/Aac|D249N|321|FLG|protein_coding|CODING|ENST00000271820|exon_1_152280126_152280588 0/1:31:204,0,28 0/1:99:177,0,255 . . 1 152280471 rs78179835 C G NON_SYNONYMOUS_CODING FLG MODERATE|MISSENSE|gaG/gaC|E207D|321|FLG|protein_coding|CODING|ENST00000271820|exon_1_152280126_152280588 0/1:99:162,0,255 0/1:99:112,0,255 . . 1 152280471 rs78179835 C G NON_SYNONYMOUS_CODING FLG MODERATE|MISSENSE|gaG/gaC|E2297D|4061|FLG|protein_coding|CODING|ENST00000368799|exon_1_152274651_152287223 0/1:99:162,0,255 0/1:99:112,0,255 . . 1 152280782 rs2184953 A G NON_SYNONYMOUS_CODING FLG MODERATE|MISSENSE|Tat/Cat|Y2194H|4061|FLG|protein_coding|CODING|ENST00000368799|exon_1_152274651_152287223 1/1:99:255,148,0 0/1:99:218,0,255 . . 1 152280788 rs66954353 T G NON_SYNONYMOUS_CODING FLG MODERATE|MISSENSE|Aaa/Caa|K2192Q|4061|FLG|protein_coding|CODING|ENST00000368799|exon_1_152274651_152287223 0/1:99:141,0,255 . . . 1 152280900 rs74129452 T G NON_SYNONYMOUS_CODING FLG MODERATE|MISSENSE|caA/caC|Q2154H|4061|FLG|protein_coding|CODING|ENST00000368799|exon_1_152274651_152287223 0/1:99:185,0,255 0/1:99:143,0,255 . . 1 152281007 rs7512553 A G NON_SYNONYMOUS_CODING FLG MODERATE|MISSENSE|Tat/Cat|Y2119H|4061|FLG|protein_coding|CODING|ENST00000368799|exon_1_152274651_152287223 0/1:99:200,0,255 0/1:99:149,0,255 . . 1 152281039 rs7522925 G A NON_SYNONYMOUS_CODING FLG MODERATE|MISSENSE|gCg/gTg|A2108V|4061|FLG|protein_coding|CODING|ENST00000368799|exon_1_152274651_152287223 0/1:99:183,0,255 0/1:99:212,0,255 . . 1 152281228 rs7546186 C G NON_SYNONYMOUS_CODING FLG MODERATE|MISSENSE|aGt/aCt|S2045T|4061|FLG|protein_coding|CODING|ENST00000368799|exon_1_152274651_152287223 0/1:99:255,0,255 0/1:99:193,0,255 . . 1 152281304 rs7512857 A C NON_SYNONYMOUS_CODING FLG MODERATE|MISSENSE|Tca/Gca|S2020A|4061|FLG|protein_coding|CODING|ENST00000368799|exon_1_152274651_152287223 0/1:99:182,0,255 0/1:99:151,0,255 . . 1 152281479 rs3126079 G T NON_SYNONYMOUS_CODING FLG MODERATE|MISSENSE|caC/caA|H1961Q|4061|FLG|protein_coding|CODING|ENST00000368799|exon_1_152274651_152287223 1/1:99:255,187,0 0/1:99:255,0,240 . . 1 152281523 rs80059102 A C NON_SYNONYMOUS_CODING FLG MODERATE|MISSENSE|Tgg/Ggg|W1947G|4061|FLG|protein_coding|CODING|ENST00000368799|exon_1_152274651_152287223 0/1:99:122,0,255 . . . 1 152281534 rs113544881 A T NON_SYNONYMOUS_CODING FLG MODERATE|MISSENSE|cTt/cAt|L1943H|4061|FLG|protein_coding|CODING|ENST00000368799|exon_1_152274651_152287223 0/1:95:92,0,255 0/1:53:50,0,255 . . 1 152281690 rs12407748 C T NON_SYNONYMOUS_CODING FLG MODERATE|MISSENSE|cGg/cAg|R126Q|321|FLG|protein_coding|CODING|ENST00000271820|exon_1_152281564_152282066 1/1:99:255,75,0 0/1:99:252,0,170 . . 1 152281690 rs12407748 C T NON_SYNONYMOUS_CODING FLG MODERATE|MISSENSE|cGg/cAg|R1891Q|4061|FLG|protein_coding|CODING|ENST00000368799|exon_1_152274651_152287223 1/1:99:255,75,0 0/1:99:252,0,170 . . 1 152281948 rs12405241 G A NON_SYNONYMOUS_CODING FLG MODERATE|MISSENSE|gCg/gTg|A1805V|4061|FLG|protein_coding|CODING|ENST00000368799|exon_1_152274651_152287223 1/1:99:255,63,0 0/1:99:215,0,228 . . 1 152281948 rs12405241 G A NON_SYNONYMOUS_CODING FLG MODERATE|MISSENSE|gCg/gTg|A40V|321|FLG|protein_coding|CODING|ENST00000271820|exon_1_152281564_152282066 1/1:99:255,63,0 0/1:99:215,0,228 . . 1 152282267 rs12405278 G A NON_SYNONYMOUS_CODING FLG MODERATE|MISSENSE|Cgc/Tgc|R1699C|4061|FLG|protein_coding|CODING|ENST00000368799|exon_1_152274651_152287223 1/1:87:255,45,0 0/1:99:198,0,163 . . 1 152282311 rs12407807 C T NON_SYNONYMOUS_CODING FLG MODERATE|MISSENSE|cGc/cAc|R1684H|4061|FLG|protein_coding|CODING|ENST00000368799|exon_1_152274651_152287223 1/1:99:255,54,0 0/1:99:140,0,197 . . 1 152282684 rs151103850 G A NON_SYNONYMOUS_CODING FLG MODERATE|MISSENSE|Cgt/Tgt|R1560C|4061|FLG|protein_coding|CODING|ENST00000368799|exon_1_152274651_152287223 . . 0/1:99:255,0,229 . 1 152282917 rs11204978 G T NON_SYNONYMOUS_CODING FLG MODERATE|MISSENSE|tCc/tAc|S1482Y|4061|FLG|protein_coding|CODING|ENST00000368799|exon_1_152274651_152287223 1/1:99:255,69,0 0/1:99:176,0,255 . . 1 152283236 rs11581433 T C NON_SYNONYMOUS_CODING FLG MODERATE|MISSENSE|Aga/Gga|R1376G|4061|FLG|protein_coding|CODING|ENST00000368799|exon_1_152274651_152287223 1/1:99:255,78,0 0/1:99:195,0,255 . . 1 152283283 rs11586631 C T NON_SYNONYMOUS_CODING FLG MODERATE|MISSENSE|cGc/cAc|R1360H|4061|FLG|protein_coding|CODING|ENST00000368799|exon_1_152274651_152287223 1/1:99:255,60,0 0/1:99:159,0,242 . . 1 152283862 rs58001094 G C NON_SYNONYMOUS_CODING FLG MODERATE|MISSENSE|gCa/gGa|A1167G|4061|FLG|protein_coding|CODING|ENST00000368799|exon_1_152274651_152287223 1/1:99:255,66,0 0/1:99:210,0,165 . . 1 152283905 rs147716588 A G NON_SYNONYMOUS_CODING FLG MODERATE|MISSENSE|Tcc/Ccc|S1153P|4061|FLG|protein_coding|CODING|ENST00000368799|exon_1_152274651_152287223 . . 0/1:99:159,0,252 . 1 152285099 rs74129461 C T NON_SYNONYMOUS_CODING FLG MODERATE|MISSENSE|Gaa/Aaa|E755K|4061|FLG|protein_coding|CODING|ENST00000368799|exon_1_152274651_152287223 1/1:99:255,66,0 0/1:99:220,0,212 . . 1 152285930 rs11584340 G A NON_SYNONYMOUS_CODING FLG MODERATE|MISSENSE|Cct/Tct|P10S|321|FLG|protein_coding|CODING|ENST00000392689|exon_1_152285556_152285957 1/1:99:255,63,0 0/1:99:216,0,226 . . 1 152285930 rs11584340 G A NON_SYNONYMOUS_CODING FLG MODERATE|MISSENSE|Cct/Tct|P478S|4061|FLG|protein_coding|CODING|ENST00000368799|exon_1_152274651_152287223 1/1:99:255,63,0 0/1:99:216,0,226 . . 1 152286002 rs2011331 T C NON_SYNONYMOUS_CODING FLG MODERATE|MISSENSE|Aca/Gca|T454A|4061|FLG|protein_coding|CODING|ENST00000368799|exon_1_152274651_152287223 1/1:99:255,78,0 0/1:99:158,0,204 . . 1 152286032 rs11588170 C T NON_SYNONYMOUS_CODING FLG MODERATE|MISSENSE|Ggg/Agg|G444R|4061|FLG|protein_coding|CODING|ENST00000368799|exon_1_152274651_152287223 1/1:99:255,78,0 0/1:99:166,0,193 . . 1 152286367 rs41267154 C A NON_SYNONYMOUS_CODING FLG MODERATE|MISSENSE|gGc/gTc|G332V|4061|FLG|protein_coding|CODING|ENST00000368799|exon_1_152274651_152287223 1/1:99:255,90,0 0/1:99:221,0,253 . . 1 152323838 rs149503979 C T NON_SYNONYMOUS_CODING FLG2 MODERATE|MISSENSE|Ggg/Agg|G2142R|2391|FLG2|protein_coding|CODING|ENST00000388718|exon_1_152321213_152330123 . . 0/1:99:255,0,239 . 1 152329435 rs2282303 C T NON_SYNONYMOUS_CODING FLG2 MODERATE|MISSENSE|cGa/cAa|R276Q|2391|FLG2|protein_coding|CODING|ENST00000388718|exon_1_152321213_152330123 1/1:99:255,90,0 0/1:99:255,0,255 . . 1 152331240 rs3818831 G A NON_SYNONYMOUS_CODING FLG2 MODERATE|MISSENSE|Ctt/Ttt|L41F|2391|FLG2|protein_coding|CODING|ENST00000388718|exon_1_152331223_152331382 1/1:99:255,78,0 0/1:99:255,0,255 . . 1 152382120 rs3829868 C T NON_SYNONYMOUS_CODING CRNN MODERATE|MISSENSE|Ggc/Agc|G480S|495|CRNN|protein_coding|CODING|ENST00000271835|exon_1_152381719_152383419 1/1:99:255,90,0 0/1:99:255,0,243 . . 1 152681603 rs41268472 A G NON_SYNONYMOUS_CODING LCE4A MODERATE|MISSENSE|Atc/Gtc|I18V|99|LCE4A|protein_coding|CODING|ENST00000335535|exon_1_152681523_152681910 0/1:99:229,0,129 . . . 1 152681603 rs41268472 A G NON_SYNONYMOUS_CODING LCE4A MODERATE|MISSENSE|Atc/Gtc|I18V|99|LCE4A|protein_coding|CODING|ENST00000368777|exon_1_152681531_152681967 0/1:99:229,0,129 . . . 1 152692512 rs41268474 G A NON_SYNONYMOUS_CODING C1orf68 MODERATE|MISSENSE|tGt/tAt|C172Y|250|C1orf68|protein_coding|CODING|ENST00000362017|exon_1_152691977_152692946 0/1:99:255,0,248 . . 0/1:99:139,0,187 1 152692512 rs41268474 G A NON_SYNONYMOUS_CODING C1orf68 MODERATE|MISSENSE|tGt/tAt|C172Y|250|C1orf68|protein_coding|CODING|ENST00000368775|exon_1_152691998_152692905 0/1:99:255,0,248 . . 0/1:99:139,0,187 1 152732174 rs944683 T C NON_SYNONYMOUS_CODING KPRP MODERATE|MISSENSE|gTt/gCt|V37A|579|KPRP|protein_coding|CODING|ENST00000368773|exon_1_152732037_152734529 0/1:99:209,0,206 . . 0/1:99:221,0,199 1 152732567 rs16834461 G A NON_SYNONYMOUS_CODING KPRP MODERATE|MISSENSE|cGt/cAt|R168H|579|KPRP|protein_coding|CODING|ENST00000368773|exon_1_152732037_152734529 0/1:99:221,0,255 . . 0/1:99:175,0,206 1 152749036 . GGGTGGTGG GGG CODON_CHANGE_PLUS_CODON_DELETION LCE1F MODERATE||ggtggtggc/ggc|GGG64G|118|LCE1F|protein_coding|CODING|ENST00000334371|exon_1_152748848_152749445 0/1:91:88,0,255 0/1:76:73,0,255 . . 1 152759989 rs148840667 G A NON_SYNONYMOUS_CODING LCE1E MODERATE|MISSENSE|Gga/Aga|G72R|118|LCE1E|protein_coding|CODING|ENST00000368770|exon_1_152759754_152760902 . 0/1:99:103,0,255 . . 1 152759989 rs148840667 G A NON_SYNONYMOUS_CODING LCE1E MODERATE|MISSENSE|Gga/Aga|G72R|118|LCE1E|protein_coding|CODING|ENST00000368771|exon_1_152759754_152760178 . 0/1:99:103,0,255 . . 1 152770521 rs41268492 G A NON_SYNONYMOUS_CODING LCE1D MODERATE|MISSENSE|cGc/cAc|R84H|114|LCE1D|protein_coding|CODING|ENST00000326233|exon_1_152770249_152770657 . 0/1:99:229,0,160 . 1/1:75:255,39,0 1 152770533 rs41268494 G A NON_SYNONYMOUS_CODING LCE1D MODERATE|MISSENSE|aGc/aAc|S88N|114|LCE1D|protein_coding|CODING|ENST00000326233|exon_1_152770249_152770657 . 0/1:99:199,0,215 . 0/1:31:149,0,28 1 152770589 rs11485496 A G NON_SYNONYMOUS_CODING LCE1D MODERATE|MISSENSE|Agc/Ggc|S107G|114|LCE1D|protein_coding|CODING|ENST00000326233|exon_1_152770249_152770657 . 0/1:99:129,0,255 . 1/1:93:246,48,0 1 152777908 rs2006940 C T NON_SYNONYMOUS_CODING LCE1C MODERATE|MISSENSE|tGc/tAc|C16Y|118|LCE1C|protein_coding|CODING|ENST00000368768|exon_1_152777311_152777974 . 0/1:99:226,0,140 . 0/1:99:142,0,255 1 152975810 rs72704847 G A NON_SYNONYMOUS_CODING SPRR3 MODERATE|MISSENSE|gGc/gAc|G105D|157|SPRR3|protein_coding|CODING|ENST00000443178|exon_1_152975478_152975972 . . 0/1:99:167,0,227 . 1 152975810 rs72704847 G A NON_SYNONYMOUS_CODING SPRR3 MODERATE|MISSENSE|gGc/gAc|G105D|169|SPRR3|protein_coding|CODING|ENST00000295367|exon_1_152975478_152976332 . . 0/1:99:167,0,227 . 1 152975810 rs72704847 G A NON_SYNONYMOUS_CODING SPRR3 MODERATE|MISSENSE|gGc/gAc|G105D|169|SPRR3|protein_coding|CODING|ENST00000331860|exon_1_152975478_152976331 . . 0/1:99:167,0,227 . 1 152975810 rs72704847 G A NON_SYNONYMOUS_CODING SPRR3 MODERATE|MISSENSE|gGc/gAc|G97D|161|SPRR3|protein_coding|CODING|ENST00000542696|exon_1_152975797_152976006 . . 0/1:99:167,0,227 . 1 153085152 rs151137674 C T NON_SYNONYMOUS_CODING SPRR2F MODERATE|MISSENSE|Gcg/Acg|A20T|72|SPRR2F|protein_coding|CODING|ENST00000468739|exon_1_153084590_153085228 . . . 0/1:99:133,0,255 1 153317723 rs3006453 T C NON_SYNONYMOUS_CODING PGLYRP4 MODERATE|MISSENSE|cAg/cGg|Q88R|369|PGLYRP4|protein_coding|CODING|ENST00000368739|exon_1_153317645_153317846 . . 0/1:99:202,0,129 . 1 153317723 rs3006453 T C NON_SYNONYMOUS_CODING PGLYRP4 MODERATE|MISSENSE|cAg/cGg|Q92R|373|PGLYRP4|protein_coding|CODING|ENST00000359650|exon_1_153317645_153317858 . . 0/1:99:202,0,129 . 1 153653757 rs28730726 G C NON_SYNONYMOUS_CODING NPR1 MODERATE|MISSENSE|atG/atC|M341I|1061|NPR1|protein_coding|CODING|ENST00000368680|exon_1_153653656_153653769 0/1:99:232,0,206 . . . 1 153662340 rs35240348 G A NON_SYNONYMOUS_CODING NPR1 MODERATE|MISSENSE|cGg/cAg|R120Q|255|NPR1|protein_coding|CODING|ENST00000368677|exon_1_153662282_153662456 . 0/1:99:106,0,141 0/1:99:190,0,182 . 1 153662340 rs35240348 G A NON_SYNONYMOUS_CODING NPR1 MODERATE|MISSENSE|cGg/cAg|R418Q|540|NPR1|protein_coding|CODING|ENST00000428723|exon_1_153662282_153662456 . 0/1:99:106,0,141 0/1:99:190,0,182 . 1 153662340 rs35240348 G A NON_SYNONYMOUS_CODING NPR1 MODERATE|MISSENSE|cGg/cAg|R939Q|1061|NPR1|protein_coding|CODING|ENST00000368680|exon_1_153662282_153662456 . 0/1:99:106,0,141 0/1:99:190,0,182 . 1 153747981 rs145619769 C T NON_SYNONYMOUS_CODING SLC27A3 MODERATE|MISSENSE|gCc/gTc|A131V|811|SLC27A3|protein_coding|CODING|ENST00000271857|exon_1_153746830_153748640 . . . 0/1:99:113,0,145 1 153747981 rs145619769 C T NON_SYNONYMOUS_CODING SLC27A3 MODERATE|MISSENSE|gCc/gTc|A50V|730|SLC27A3|protein_coding|CODING|ENST00000368661|exon_1_153747768_153748640 . . . 0/1:99:113,0,145 1 153748161 rs34527123 G C NON_SYNONYMOUS_CODING SLC27A3 MODERATE|MISSENSE|gGg/gCg|G110A|730|SLC27A3|protein_coding|CODING|ENST00000368661|exon_1_153747768_153748640 . . 0/1:99:222,0,237 . 1 153748161 rs34527123 G C NON_SYNONYMOUS_CODING SLC27A3 MODERATE|MISSENSE|gGg/gCg|G191A|811|SLC27A3|protein_coding|CODING|ENST00000271857|exon_1_153746830_153748640 . . 0/1:99:222,0,237 . 1 153963749 rs41265211 G T NON_SYNONYMOUS_CODING RPS27 MODERATE|MISSENSE|ttG/ttT|L55F|66|RPS27|protein_coding|CODING|ENST00000392558|exon_1_153963591_153964174 . . . 0/1:99:255,0,255 1 154072601 rs139838869 G A NON_SYNONYMOUS_CODING NUP210L MODERATE|MISSENSE|cCa/cTa|P613L|1736|NUP210L|protein_coding|CODING|ENST00000271854|exon_1_154072474_154072619 . 0/1:99:255,0,255 . . 1 154072601 rs139838869 G A NON_SYNONYMOUS_CODING NUP210L MODERATE|MISSENSE|cCa/cTa|P613L|1888|NUP210L|protein_coding|CODING|ENST00000368559|exon_1_154072474_154072619 . 0/1:99:255,0,255 . . 1 154842199 . GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG CODON_CHANGE_PLUS_CODON_INSERTION KCNN3 MODERATE||ctt/ctCAGCAGCAGt|L161LSSS|227|KCNN3|protein_coding|CODING|ENST00000539103|exon_1_154842114_154842725 . . 1/1:10:69,6,0,.,.,.,.,.,.,. 2/2:16:127,.,.,52,.,43,85,.,0,79 1 154842199 . GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG CODON_CHANGE_PLUS_CODON_INSERTION KCNN3 MODERATE||ctt/ctCAGCAGCAGt|L66LSSS|731|KCNN3|protein_coding|CODING|ENST00000271915|exon_1_154841508_154842756 . . 1/1:10:69,6,0,.,.,.,.,.,.,. 2/2:16:127,.,.,52,.,43,85,.,0,79 1 154842235 . TGCTGCTG TGCTGCTGCTGCGGCTGCTG CODON_CHANGE_PLUS_CODON_INSERTION KCNN3 MODERATE||ctt/ctCAGCAGCCGCAGt|L161LSSRS|227|KCNN3|protein_coding|CODING|ENST00000539103|exon_1_154842114_154842725 . 0/1:80:77,0,107 . . 1 154842235 . TGCTGCTG TGCTGCTGCTGCGGCTGCTG CODON_CHANGE_PLUS_CODON_INSERTION KCNN3 MODERATE||ctt/ctCAGCAGCCGCAGt|L66LSSRS|731|KCNN3|protein_coding|CODING|ENST00000271915|exon_1_154841508_154842756 . 0/1:80:77,0,107 . . 1 154965113 rs7535144 G T NON_SYNONYMOUS_CODING FLAD1 MODERATE|MISSENSE|gGc/gTc|G163V|170|FLAD1|protein_coding|CODING|ENST00000295530|exon_1_154965041_154965149 . 0/1:99:255,0,170 . . 1 154965113 rs7535144 G T NON_SYNONYMOUS_CODING FLAD1 MODERATE|MISSENSE|gGc/gTc|G331V|338|FLAD1|protein_coding|CODING|ENST00000405236|exon_1_154965041_154965149 . 0/1:99:255,0,170 . . 1 154987704 rs141845046 C T NON_SYNONYMOUS_CODING ZBTB7B MODERATE|MISSENSE|Ccg/Tcg|P190S|539|ZBTB7B|protein_coding|CODING|ENST00000292176|exon_1_154986924_154988290 . . 0/1:99:169,0,245 . 1 154987704 rs141845046 C T NON_SYNONYMOUS_CODING ZBTB7B MODERATE|MISSENSE|Ccg/Tcg|P190S|539|ZBTB7B|protein_coding|CODING|ENST00000368426|exon_1_154987131_154988290 . . 0/1:99:169,0,245 . 1 154987704 rs141845046 C T NON_SYNONYMOUS_CODING ZBTB7B MODERATE|MISSENSE|Ccg/Tcg|P190S|539|ZBTB7B|protein_coding|CODING|ENST00000535420|exon_1_154987131_154988290 . . 0/1:99:169,0,245 . 1 154987704 rs141845046 C T NON_SYNONYMOUS_CODING ZBTB7B MODERATE|MISSENSE|Ccg/Tcg|P224S|573|ZBTB7B|protein_coding|CODING|ENST00000417934|exon_1_154987131_154988290 . . 0/1:99:169,0,245 . 1 155057645 . GGGGGTGGGCCCCGGGG GGGGG CODON_CHANGE_PLUS_CODON_DELETION EFNA3 MODERATE||gtgggccccggggcg/gcg|VGPGA66A|233|EFNA3|protein_coding|CODING|ENST00000556931|exon_1_155057567_155057880 . . 0/1:86:83,0,255 . 1 155057645 . GGGGGTGGGCCCCGGGG GGGGG CODON_CHANGE_PLUS_CODON_DELETION RP11-540D14.8.1 MODERATE||gtgggccccggggcg/gcg|VGPGA66A|233|RP11-540D14.8.1|protein_coding|CODING|ENST00000505139|exon_1_155057567_155057880 . . 0/1:86:83,0,255 . 1 155057645 . GGGGGTGGGCCCCGGGG GGGGG CODON_CHANGE_PLUS_CODON_DELETION EFNA3 MODERATE||gtgggccccggggcg/gcg|VGPGA71A|212|EFNA3|protein_coding|CODING|ENST00000418360|exon_1_155057567_155057880 . . 0/1:86:83,0,255 . 1 155057645 . GGGGGTGGGCCCCGGGG GGGGG CODON_CHANGE_PLUS_CODON_DELETION EFNA3 MODERATE||gtgggccccggggcg/gcg|VGPGA71A|238|EFNA3|protein_coding|CODING|ENST00000368408|exon_1_155057567_155057880 . . 0/1:86:83,0,255 . 1 155240602 rs146590055 C T NON_SYNONYMOUS_CODING CLK2 MODERATE|MISSENSE|cGa/cAa|R56Q|497|CLK2|protein_coding|CODING|ENST00000355560|exon_1_155240599_155240768 . . 0/1:99:253,0,210 . 1 155240602 rs146590055 C T NON_SYNONYMOUS_CODING CLK2 MODERATE|MISSENSE|cGa/cAa|R56Q|498|CLK2|protein_coding|CODING|ENST00000361168|exon_1_155240599_155240768 . . 0/1:99:253,0,210 . 1 155240602 rs146590055 C T NON_SYNONYMOUS_CODING CLK2 MODERATE|MISSENSE|cGa/cAa|R56Q|499|CLK2|protein_coding|CODING|ENST00000368361|exon_1_155240599_155240768 . . 0/1:99:253,0,210 . 1 155240602 rs146590055 C T NON_SYNONYMOUS_CODING CLK2 MODERATE|MISSENSE|cGa/cAa|R56Q|499|CLK2|protein_coding|CODING|ENST00000536801|exon_1_155240599_155240768 . . 0/1:99:253,0,210 . 1 155340587 . C T NON_SYNONYMOUS_CODING ASH1L MODERATE|MISSENSE|Gtc/Atc|V2174I|2964|ASH1L|protein_coding|CODING|ENST00000392403|exon_1_155340568_155340774 0/1:99:255,0,234 . . . 1 155340587 . C T NON_SYNONYMOUS_CODING ASH1L MODERATE|MISSENSE|Gtc/Atc|V2179I|2969|ASH1L|protein_coding|CODING|ENST00000368346|exon_1_155340568_155340774 0/1:99:255,0,234 . . . 1 156018299 rs143327773 C T NON_SYNONYMOUS_CODING UBQLN4 MODERATE|MISSENSE|cGg/cAg|R298Q|601|UBQLN4|protein_coding|CODING|ENST00000368309|exon_1_156018292_156018450 0/1:99:255,0,247 . . . 1 156108298 rs60890628 C T NON_SYNONYMOUS_CODING LMNA MODERATE|MISSENSE|tCg/tTg|S169L|260|LMNA|protein_coding|CODING|ENST00000508500|exon_1_156108279_156108548 0/1:99:125,0,154 . . . 1 156108298 rs60890628 C T NON_SYNONYMOUS_CODING LMNA MODERATE|MISSENSE|tCg/tTg|S461L|574|LMNA|protein_coding|CODING|ENST00000448611|exon_1_156108279_156108548 0/1:99:125,0,154 . . . 1 156108298 rs60890628 C T NON_SYNONYMOUS_CODING LMNA MODERATE|MISSENSE|tCg/tTg|S474L|565|LMNA|protein_coding|CODING|ENST00000473598|exon_1_156108279_156108548 0/1:99:125,0,154 . . . 1 156108298 rs60890628 C T NON_SYNONYMOUS_CODING LMNA MODERATE|MISSENSE|tCg/tTg|S543L|634|LMNA|protein_coding|CODING|ENST00000347559|exon_1_156108279_156108548 0/1:99:125,0,154 . . . 1 156108298 rs60890628 C T NON_SYNONYMOUS_CODING LMNA MODERATE|MISSENSE|tCg/tTg|S573L|614|LMNA|protein_coding|CODING|ENST00000368299|exon_1_156108279_156108398 0/1:99:125,0,154 . . . 1 156108298 rs60890628 C T NON_SYNONYMOUS_CODING LMNA MODERATE|MISSENSE|tCg/tTg|S573L|664|LMNA|protein_coding|CODING|ENST00000368300|exon_1_156108279_156108548 0/1:99:125,0,154 . . . 1 156206158 rs62001899 C T NON_SYNONYMOUS_CODING PMF1 MODERATE|MISSENSE|Cgc/Tgc|R150C|205|PMF1|protein_coding|CODING|ENST00000368277|exon_1_156206079_156206274 . . 0/1:99:219,0,226 . 1 156206158 rs62001899 C T NON_SYNONYMOUS_CODING PMF1 MODERATE|MISSENSE|Cgc/Tgc|R152C|207|PMF1|protein_coding|CODING|ENST00000368273|exon_1_156206079_156206274 . . 0/1:99:219,0,226 . 1 156213921 rs7513351 C T NON_SYNONYMOUS_CODING PAQR6 MODERATE|MISSENSE|Gag/Aag|E263K|351|PAQR6|protein_coding|CODING|ENST00000335852|exon_1_156213207_156214194 0/1:99:209,0,254 . 0/1:99:255,0,223 . 1 156213921 rs7513351 C T NON_SYNONYMOUS_CODING PAQR6 MODERATE|MISSENSE|Gag/Aag|E263K|351|PAQR6|protein_coding|CODING|ENST00000356983|exon_1_156213207_156214194 0/1:99:209,0,254 . 0/1:99:255,0,223 . 1 156213921 rs7513351 C T NON_SYNONYMOUS_CODING PAQR6 MODERATE|MISSENSE|Gag/Aag|E263K|351|PAQR6|protein_coding|CODING|ENST00000360733|exon_1_156213207_156214194 0/1:99:209,0,254 . 0/1:99:255,0,223 . 1 156290656 rs11548200 T C NON_SYNONYMOUS_CODING CCT3 MODERATE|MISSENSE|Ata/Gta|I116V|143|CCT3|protein_coding|CODING|ENST00000533194|exon_1_156290630_156290816 . . . 0/1:99:255,0,255 1 156290656 rs11548200 T C NON_SYNONYMOUS_CODING CCT3 MODERATE|MISSENSE|Ata/Gta|I150V|500|CCT3|protein_coding|CODING|ENST00000368261|exon_1_156290630_156290816 . . . 0/1:99:255,0,255 1 156290656 rs11548200 T C NON_SYNONYMOUS_CODING CCT3 MODERATE|MISSENSE|Ata/Gta|I150V|500|CCT3|protein_coding|CODING|ENST00000472765|exon_1_156290630_156290816 . . . 0/1:99:255,0,255 1 156290656 rs11548200 T C NON_SYNONYMOUS_CODING CCT3 MODERATE|MISSENSE|Ata/Gta|I157V|507|CCT3|protein_coding|CODING|ENST00000368259|exon_1_156290630_156290816 . . . 0/1:99:255,0,255 1 156290656 rs11548200 T C NON_SYNONYMOUS_CODING CCT3 MODERATE|MISSENSE|Ata/Gta|I181V|187|CCT3|protein_coding|CODING|ENST00000446905|exon_1_156290631_156290816 . . . 0/1:99:255,0,255 1 156290656 rs11548200 T C NON_SYNONYMOUS_CODING CCT3 MODERATE|MISSENSE|Ata/Gta|I194V|233|CCT3|protein_coding|CODING|ENST00000496684|exon_1_156290630_156290816 . . . 0/1:99:255,0,255 1 156290656 rs11548200 T C NON_SYNONYMOUS_CODING CCT3 MODERATE|MISSENSE|Ata/Gta|I195V|545|CCT3|protein_coding|CODING|ENST00000295688|exon_1_156290630_156290816 . . . 0/1:99:255,0,255 1 156290656 rs11548200 T C NON_SYNONYMOUS_CODING CCT3 MODERATE|MISSENSE|Ata/Gta|I219V|275|CCT3|protein_coding|CODING|ENST00000413555|exon_1_156290630_156290816 . . . 0/1:99:255,0,255 1 156551248 rs192869620 G A NON_SYNONYMOUS_CODING TTC24 MODERATE|MISSENSE|cGg/cAg|R31Q|582|TTC24|protein_coding|CODING|ENST00000368236|exon_1_156551153_156551862 0/1:99:251,0,212 . . . 1 156551248 rs192869620 G A NON_SYNONYMOUS_CODING TTC24 MODERATE|MISSENSE|cGg/cAg|R31Q|582|TTC24|protein_coding|CODING|ENST00000368237|exon_1_156551157_156551862 0/1:99:251,0,212 . . . 1 156838426 . C T NON_SYNONYMOUS_CODING NTRK1 MODERATE|MISSENSE|tCa/tTa|S205L|760|NTRK1|protein_coding|CODING|ENST00000392302|exon_1_156838297_156838439 0/1:99:188,0,213 . . . 1 156838426 . C T NON_SYNONYMOUS_CODING NTRK1 MODERATE|MISSENSE|tCa/tTa|S235L|790|NTRK1|protein_coding|CODING|ENST00000368196|exon_1_156838297_156838439 0/1:99:188,0,213 . . . 1 156838426 . C T NON_SYNONYMOUS_CODING NTRK1 MODERATE|MISSENSE|tCa/tTa|S235L|793|NTRK1|protein_coding|CODING|ENST00000358660|exon_1_156838297_156838439 0/1:99:188,0,213 . . . 1 156838426 . C T NON_SYNONYMOUS_CODING NTRK1 MODERATE|MISSENSE|tCa/tTa|S235L|796|NTRK1|protein_coding|CODING|ENST00000524377|exon_1_156838297_156838439 0/1:99:188,0,213 . . . 1 156848918 rs6336 C T NON_SYNONYMOUS_CODING NTRK1 MODERATE|MISSENSE|Cat/Tat|H568Y|760|NTRK1|protein_coding|CODING|ENST00000392302|exon_1_156848914_156849154 . 0/1:99:224,0,255 . . 1 156848918 rs6336 C T NON_SYNONYMOUS_CODING NTRK1 MODERATE|MISSENSE|Cat/Tat|H598Y|790|NTRK1|protein_coding|CODING|ENST00000368196|exon_1_156848914_156849154 . 0/1:99:224,0,255 . . 1 156848918 rs6336 C T NON_SYNONYMOUS_CODING NTRK1 MODERATE|MISSENSE|Cat/Tat|H601Y|793|NTRK1|protein_coding|CODING|ENST00000358660|exon_1_156848914_156849154 . 0/1:99:224,0,255 . . 1 156848918 rs6336 C T NON_SYNONYMOUS_CODING NTRK1 MODERATE|MISSENSE|Cat/Tat|H604Y|796|NTRK1|protein_coding|CODING|ENST00000524377|exon_1_156848914_156849154 . 0/1:99:224,0,255 . . 1 156848946 rs6339 G T NON_SYNONYMOUS_CODING NTRK1 MODERATE|MISSENSE|gGt/gTt|G577V|760|NTRK1|protein_coding|CODING|ENST00000392302|exon_1_156848914_156849154 . 0/1:99:155,0,255 . . 1 156848946 rs6339 G T NON_SYNONYMOUS_CODING NTRK1 MODERATE|MISSENSE|gGt/gTt|G607V|790|NTRK1|protein_coding|CODING|ENST00000368196|exon_1_156848914_156849154 . 0/1:99:155,0,255 . . 1 156848946 rs6339 G T NON_SYNONYMOUS_CODING NTRK1 MODERATE|MISSENSE|gGt/gTt|G610V|793|NTRK1|protein_coding|CODING|ENST00000358660|exon_1_156848914_156849154 . 0/1:99:155,0,255 . . 1 156848946 rs6339 G T NON_SYNONYMOUS_CODING NTRK1 MODERATE|MISSENSE|gGt/gTt|G613V|796|NTRK1|protein_coding|CODING|ENST00000524377|exon_1_156848914_156849154 . 0/1:99:155,0,255 . . 1 156890672 rs41273221 T C NON_SYNONYMOUS_CODING LRRC71 MODERATE|MISSENSE|gTg/gCg|V26A|559|LRRC71|protein_coding|CODING|ENST00000337428|exon_1_156890442_156890755 . 0/1:99:152,0,255 . . 1 156902222 rs12119908 G A NON_SYNONYMOUS_CODING LRRC71 MODERATE|MISSENSE|cGc/cAc|R483H|559|LRRC71|protein_coding|CODING|ENST00000337428|exon_1_156902216_156902337 . 0/1:99:168,0,112 . . 1 156902281 rs822431 T G NON_SYNONYMOUS_CODING LRRC71 MODERATE|MISSENSE|Tcc/Gcc|S503A|559|LRRC71|protein_coding|CODING|ENST00000337428|exon_1_156902216_156902337 . 0/1:99:202,0,182 . . 1 156928576 rs142957547 C T NON_SYNONYMOUS_CODING ARHGEF11 MODERATE|MISSENSE|cGc/cAc|R447H|1522|ARHGEF11|protein_coding|CODING|ENST00000361409|exon_1_156928534_156928656 . . . 0/1:99:255,0,189 1 156928576 rs142957547 C T NON_SYNONYMOUS_CODING ARHGEF11 MODERATE|MISSENSE|cGc/cAc|R487H|1562|ARHGEF11|protein_coding|CODING|ENST00000368194|exon_1_156928534_156928656 . . . 0/1:99:255,0,189 1 157068533 rs12083811 G A NON_SYNONYMOUS_CODING ETV3L MODERATE|MISSENSE|Cgg/Tgg|R151W|361|ETV3L|protein_coding|CODING|ENST00000454449|exon_1_157068498_157068687 . . . 0/1:99:186,0,201 1 157559122 rs11582663 C T NON_SYNONYMOUS_CODING FCRL4 MODERATE|MISSENSE|cGg/cAg|R60Q|515|FCRL4|protein_coding|CODING|ENST00000271532|exon_1_157558994_157559248 . 0/1:99:255,0,255 0/1:99:255,0,255 . 1 157648543 rs2282284 T C NON_SYNONYMOUS_CODING FCRL3 MODERATE|MISSENSE|aAc/aGc|N721S|734|FCRL3|protein_coding|CODING|ENST00000368184|exon_1_157646272_157648646 . . 0/1:99:255,0,251 . 1 157648543 rs2282284 T C NON_SYNONYMOUS_CODING FCRL3 MODERATE|MISSENSE|aAc/aGc|N721S|742|FCRL3|protein_coding|CODING|ENST00000368186|exon_1_157648533_157648646 . . 0/1:99:255,0,251 . 1 157804260 rs141546266 G A NON_SYNONYMOUS_CODING CD5L MODERATE|MISSENSE|Cct/Tct|P219S|347|CD5L|protein_coding|CODING|ENST00000368174|exon_1_157804197_157804538 . . 0/1:99:255,0,236 . 1 158576973 rs41273513 A G NON_SYNONYMOUS_CODING OR10Z1 MODERATE|MISSENSE|Att/Gtt|I249V|313|OR10Z1|protein_coding|CODING|ENST00000361284|exon_1_158576229_158577170 . . . 0/1:99:159,0,217 1 158592847 rs78394850 G A NON_SYNONYMOUS_CODING SPTA1 MODERATE|MISSENSE|Cgc/Tgc|R2013C|2416|SPTA1|protein_coding|CODING|ENST00000368147|exon_1_158592773_158592982 . 0/1:99:255,0,255 . . 1 158592847 rs78394850 G A NON_SYNONYMOUS_CODING SPTA1 MODERATE|MISSENSE|Cgc/Tgc|R2016C|2419|SPTA1|protein_coding|CODING|ENST00000368148|exon_1_158592773_158592982 . 0/1:99:255,0,255 . . 1 158592901 rs77877855 C G NON_SYNONYMOUS_CODING SPTA1 MODERATE|MISSENSE|Gct/Cct|A1995P|2416|SPTA1|protein_coding|CODING|ENST00000368147|exon_1_158592773_158592982 . 0/1:99:255,0,255 . . 1 158592901 rs77877855 C G NON_SYNONYMOUS_CODING SPTA1 MODERATE|MISSENSE|Gct/Cct|A1998P|2419|SPTA1|protein_coding|CODING|ENST00000368148|exon_1_158592773_158592982 . 0/1:99:255,0,255 . . 1 158604391 rs16830483 T C NON_SYNONYMOUS_CODING SPTA1 MODERATE|MISSENSE|aAt/aGt|N1836S|2416|SPTA1|protein_coding|CODING|ENST00000368147|exon_1_158604333_158604465 . 0/1:99:253,0,236 . . 1 158604391 rs16830483 T C NON_SYNONYMOUS_CODING SPTA1 MODERATE|MISSENSE|aAt/aGt|N1836S|2419|SPTA1|protein_coding|CODING|ENST00000368148|exon_1_158604333_158604465 . 0/1:99:253,0,236 . . 1 158612719 rs41273523 C T NON_SYNONYMOUS_CODING SPTA1 MODERATE|MISSENSE|gGa/gAa|G1497E|2416|SPTA1|protein_coding|CODING|ENST00000368147|exon_1_158612604_158612766 . . 0/1:99:234,0,230 . 1 158612719 rs41273523 C T NON_SYNONYMOUS_CODING SPTA1 MODERATE|MISSENSE|gGa/gAa|G1497E|2419|SPTA1|protein_coding|CODING|ENST00000368148|exon_1_158612604_158612766 . . 0/1:99:234,0,230 . 1 158669739 rs150711789 C T NON_SYNONYMOUS_CODING OR6K2 MODERATE|MISSENSE|cGc/cAc|R235H|324|OR6K2|protein_coding|CODING|ENST00000359610|exon_1_158669369_158670486 . 0/1:99:255,0,202 . . 1 158746678 rs41273541 T C NON_SYNONYMOUS_CODING OR6N2 MODERATE|MISSENSE|Atc/Gtc|I250V|317|OR6N2|protein_coding|CODING|ENST00000339258|exon_1_158746472_158747425 0/1:99:255,0,255 . . . 1 159024668 rs6940 A T NON_SYNONYMOUS_CODING IFI16 MODERATE|MISSENSE|Act/Tct|T667S|673|IFI16|protein_coding|CODING|ENST00000340979|exon_1_159024611_159024943 0/1:99:255,0,193 . . 0/1:99:255,0,255 1 159024668 rs6940 A T NON_SYNONYMOUS_CODING IFI16 MODERATE|MISSENSE|Act/Tct|T667S|673|IFI16|protein_coding|CODING|ENST00000448393|exon_1_159024611_159024914 0/1:99:255,0,193 . . 0/1:99:255,0,255 1 159024668 rs6940 A T NON_SYNONYMOUS_CODING IFI16 MODERATE|MISSENSE|Act/Tct|T723S|729|IFI16|protein_coding|CODING|ENST00000359709|exon_1_159024611_159024938 0/1:99:255,0,193 . . 0/1:99:255,0,255 1 159024668 rs6940 A T NON_SYNONYMOUS_CODING IFI16 MODERATE|MISSENSE|Act/Tct|T723S|729|IFI16|protein_coding|CODING|ENST00000368131|exon_1_159024611_159024945 0/1:99:255,0,193 . . 0/1:99:255,0,255 1 159024668 rs6940 A T NON_SYNONYMOUS_CODING IFI16 MODERATE|MISSENSE|Act/Tct|T723S|729|IFI16|protein_coding|CODING|ENST00000368132|exon_1_159024611_159024941 0/1:99:255,0,193 . . 0/1:99:255,0,255 1 159024668 rs6940 A T NON_SYNONYMOUS_CODING IFI16 MODERATE|MISSENSE|Act/Tct|T727S|733|IFI16|protein_coding|CODING|ENST00000430894|exon_1_159024611_159024938 0/1:99:255,0,193 . . 0/1:99:255,0,255 1 159024668 rs6940 A T NON_SYNONYMOUS_CODING IFI16 MODERATE|MISSENSE|Act/Tct|T779S|785|IFI16|protein_coding|CODING|ENST00000295809|exon_1_159024611_159024945 0/1:99:255,0,193 . . 0/1:99:255,0,255 1 159175527 rs113294743 G A NON_SYNONYMOUS_CODING DARC MODERATE|MISSENSE|Gca/Aca|A100T|336|DARC|protein_coding|CODING|ENST00000359381|exon_1_159175251_159176288 . . 0/1:99:217,0,231 . 1 159175527 rs113294743 G A NON_SYNONYMOUS_CODING DARC MODERATE|MISSENSE|Gca/Aca|A100T|336|DARC|protein_coding|CODING|ENST00000368122|exon_1_159175251_159176290 . . 0/1:99:217,0,231 . 1 159175527 rs113294743 G A NON_SYNONYMOUS_CODING DARC MODERATE|MISSENSE|Gca/Aca|A100T|336|DARC|protein_coding|CODING|ENST00000537147|exon_1_159175251_159176288 . . 0/1:99:217,0,231 . 1 159175527 rs113294743 G A NON_SYNONYMOUS_CODING DARC MODERATE|MISSENSE|Gca/Aca|A102T|154|DARC|protein_coding|CODING|ENST00000435307|exon_1_159175201_159175688 . . 0/1:99:217,0,231 . 1 159175527 rs113294743 G A NON_SYNONYMOUS_CODING DARC MODERATE|MISSENSE|Gca/Aca|A102T|338|DARC|protein_coding|CODING|ENST00000368121|exon_1_159175201_159176288 . . 0/1:99:217,0,231 . 1 159283784 rs74762977 G C NON_SYNONYMOUS_CODING OR10J3 MODERATE|MISSENSE|atC/atG|I222M|329|OR10J3|protein_coding|CODING|ENST00000332217|exon_1_159283460_159284449 0/1:99:246,0,255 . . . 1 159409884 rs12118628 G A NON_SYNONYMOUS_CODING OR10J1 MODERATE|MISSENSE|atG/atA|M112I|320|OR10J1|protein_coding|CODING|ENST00000423932|exon_1_159409512_159410600 0/1:99:255,0,217 . 0/1:99:255,0,255 0/1:99:251,0,255 1 159505101 rs35393723 G A NON_SYNONYMOUS_CODING OR10J5 MODERATE|MISSENSE|Cgg/Tgg|R233W|309|OR10J5|protein_coding|CODING|ENST00000334857|exon_1_159504793_159505842 . . . 0/1:99:255,0,128 1 159778910 rs72700615 G A NON_SYNONYMOUS_CODING FCRL6 MODERATE|MISSENSE|gGc/gAc|G160D|397|FCRL6|protein_coding|CODING|ENST00000339348|exon_1_159778751_159779035 . . . 0/1:99:98,0,191 1 159778910 rs72700615 G A NON_SYNONYMOUS_CODING FCRL6 MODERATE|MISSENSE|gGc/gAc|G160D|434|FCRL6|protein_coding|CODING|ENST00000368106|exon_1_159778751_159779035 . . . 0/1:99:98,0,191 1 159778910 rs72700615 G A NON_SYNONYMOUS_CODING FCRL6 MODERATE|MISSENSE|gGc/gAc|G167D|413|FCRL6|protein_coding|CODING|ENST00000321935|exon_1_159778751_159779035 . . . 0/1:99:98,0,191 1 159785425 rs4443889 A G NON_SYNONYMOUS_CODING FCRL6 MODERATE|MISSENSE|Agc/Ggc|S427G|434|FCRL6|protein_coding|CODING|ENST00000368106|exon_1_159785326_159785451 . . . 0/1:99:180,0,255 1 159828613 rs62624468 C T NON_SYNONYMOUS_CODING VSIG8 MODERATE|MISSENSE|Gtc/Atc|V47I|414|VSIG8|protein_coding|CODING|ENST00000368100|exon_1_159828524_159828702 . . . 0/1:99:255,0,242 1 159897559 rs1319080 G T NON_SYNONYMOUS_CODING IGSF9 MODERATE|MISSENSE|Cca/Aca|P1101T|1163|IGSF9|protein_coding|CODING|ENST00000361509|exon_1_159897550_159897677 0/1:99:208,0,255 . . . 1 159897559 rs1319080 G T NON_SYNONYMOUS_CODING IGSF9 MODERATE|MISSENSE|Cca/Aca|P1117T|1179|IGSF9|protein_coding|CODING|ENST00000368094|exon_1_159897550_159897677 0/1:99:208,0,255 . . . 1 159897559 rs1319080 G T NON_SYNONYMOUS_CODING IGSF9 MODERATE|MISSENSE|Cca/Aca|P655T|717|IGSF9|protein_coding|CODING|ENST00000198587|exon_1_159897550_159897677 0/1:99:208,0,255 . . . 1 159899462 rs185161099 C A NON_SYNONYMOUS_CODING IGSF9 MODERATE|MISSENSE|agG/agT|R748S|1163|IGSF9|protein_coding|CODING|ENST00000361509|exon_1_159899428_159899604 . . . 0/1:99:134,0,204 1 159899462 rs185161099 C A NON_SYNONYMOUS_CODING IGSF9 MODERATE|MISSENSE|agG/agT|R764S|1179|IGSF9|protein_coding|CODING|ENST00000368094|exon_1_159899428_159899604 . . . 0/1:99:134,0,204 1 159901349 . G C NON_SYNONYMOUS_CODING IGSF9 MODERATE|MISSENSE|agC/agG|S453R|1163|IGSF9|protein_coding|CODING|ENST00000361509|exon_1_159901243_159901393 . . . 0/1:99:238,0,178 1 159901349 . G C NON_SYNONYMOUS_CODING IGSF9 MODERATE|MISSENSE|agC/agG|S469R|1179|IGSF9|protein_coding|CODING|ENST00000368094|exon_1_159901243_159901393 . . . 0/1:99:238,0,178 1 160133955 rs76528638 G A NON_SYNONYMOUS_CODING ATP1A4 MODERATE|MISSENSE|cGg/cAg|R263Q|1029|ATP1A4|protein_coding|CODING|ENST00000368081|exon_1_160133946_160134214 0/1:99:242,0,255 . . . 1 160143962 rs144428770 G C NON_SYNONYMOUS_CODING ATP1A4 MODERATE|MISSENSE|Gat/Cat|D685H|1029|ATP1A4|protein_coding|CODING|ENST00000368081|exon_1_160143901_160144051 . . . 0/1:96:255,0,93 1 160209873 . GCTCTTCTTCCTCCTCTTCTTCCTCCTCTTC GCTCTTCTTCCTCCTCTTC CODON_DELETION DCAF8 MODERATE||gaagaggaggaa/-|EEEE103-|105|DCAF8|protein_coding|CODING|ENST00000407642|exon_1_160209892_160210160 . . 0/1:99:143,0,255 . 1 160209873 . GCTCTTCTTCCTCCTCTTCTTCCTCCTCTTC GCTCTTCTTCCTCCTCTTC CODON_DELETION DCAF8 MODERATE||gaagaggaggaa/-|EEEE103-|108|DCAF8|protein_coding|CODING|ENST00000440682|exon_1_160209881_160210160 . . 0/1:99:143,0,255 . 1 160209873 . GCTCTTCTTCCTCCTCTTCTTCCTCCTCTTC GCTCTTCTTCCTCCTCTTC CODON_DELETION DCAF8 MODERATE||gaagaggaggaa/-|EEEE103-|211|DCAF8|protein_coding|CODING|ENST00000447377|exon_1_160209574_160210160 . . 0/1:99:143,0,255 . 1 160209873 . GCTCTTCTTCCTCCTCTTCTTCCTCCTCTTC GCTCTTCTTCCTCCTCTTC CODON_DELETION DCAF8 MODERATE||gaagaggaggaa/-|EEEE103-|597|DCAF8|protein_coding|CODING|ENST00000326837|exon_1_160209487_160210160 . . 0/1:99:143,0,255 . 1 160209873 . GCTCTTCTTCCTCCTCTTCTTCCTCCTCTTC GCTCTTCTTCCTCCTCTTC CODON_DELETION DCAF8 MODERATE||gaagaggaggaa/-|EEEE103-|597|DCAF8|protein_coding|CODING|ENST00000368073|exon_1_160209487_160210160 . . 0/1:99:143,0,255 . 1 160209873 . GCTCTTCTTCCTCCTCTTCTTCCTCCTCTTC GCTCTTCTTCCTCCTCTTC CODON_DELETION DCAF8 MODERATE||gaagaggaggaa/-|EEEE103-|597|DCAF8|protein_coding|CODING|ENST00000368074|exon_1_160209487_160210160 . . 0/1:99:143,0,255 . 1 160209873 . GCTCTTCTTCCTCCTCTTCTTCCTCCTCTTC GCTCTTCTTCCTCCTCTTC CODON_DELETION DCAF8 MODERATE||gaagaggaggaa/-|EEEE257-|751|DCAF8|protein_coding|CODING|ENST00000555195|exon_1_160209487_160210160 . . 0/1:99:143,0,255 . 1 160209873 . GCTCTTCTTCCTCCTCTTCTTCCTCCTCTTC GCTCTTCTTCCTCCTCTTC CODON_DELETION RP11-574F21.3.1 MODERATE||gaagaggaggaa/-|EEEE257-|751|RP11-574F21.3.1|protein_coding|CODING|ENST00000556710|exon_1_160209487_160210160 . . 0/1:99:143,0,255 . 1 160209873 . GCTCTTCTTCCTCCTCTTCTTCCTCCTCTTC GCTCTTCTTCCTCCTCTTC CODON_DELETION DCAF8 MODERATE||gaagaggaggaa/-|EEEE84-|578|DCAF8|protein_coding|CODING|ENST00000540855|exon_1_160209487_160209970 . . 0/1:99:143,0,255 . 1 160651069 rs182828440 C A NON_SYNONYMOUS_CODING CD48 MODERATE|MISSENSE|aGg/aTg|R192M|243|CD48|protein_coding|CODING|ENST00000368046|exon_1_160650992_160651258 0/1:99:175,0,255 . . . 1 160654758 rs2295615 C G NON_SYNONYMOUS_CODING CD48 MODERATE|MISSENSE|Gag/Cag|E102Q|169|CD48|protein_coding|CODING|ENST00000368045|exon_1_160653309_160654979 . . 0/1:99:255,0,255 . 1 160654758 rs2295615 C G NON_SYNONYMOUS_CODING CD48 MODERATE|MISSENSE|Gag/Cag|E102Q|243|CD48|protein_coding|CODING|ENST00000368046|exon_1_160654677_160654979 . . 0/1:99:255,0,255 . 1 160806019 rs35224927 C G NON_SYNONYMOUS_CODING CD244 MODERATE|MISSENSE|gGg/gCg|G195A|273|CD244|protein_coding|CODING|ENST00000322302|exon_1_160805985_160806044 . . 0/1:99:255,0,222 . 1 160806019 rs35224927 C G NON_SYNONYMOUS_CODING CD244 MODERATE|MISSENSE|gGg/gCg|G287A|329|CD244|protein_coding|CODING|ENST00000368032|exon_1_160805985_160806044 . . 0/1:99:255,0,222 . 1 160806019 rs35224927 C G NON_SYNONYMOUS_CODING CD244 MODERATE|MISSENSE|gGg/gCg|G287A|365|CD244|protein_coding|CODING|ENST00000368034|exon_1_160805985_160806044 . . 0/1:99:255,0,222 . 1 160806019 rs35224927 C G NON_SYNONYMOUS_CODING CD244 MODERATE|MISSENSE|gGg/gCg|G292A|370|CD244|protein_coding|CODING|ENST00000368033|exon_1_160805985_160806044 . . 0/1:99:255,0,222 . 1 161049509 rs35434391 G T NON_SYNONYMOUS_CODING PVRL4 MODERATE|MISSENSE|Cca/Aca|P104T|510|PVRL4|protein_coding|CODING|ENST00000368012|exon_1_161049380_161049739 . 0/1:99:231,0,196 0/1:99:208,0,240 0/1:99:121,0,255 1 161068441 rs200214202 G A NON_SYNONYMOUS_CODING KLHDC9 MODERATE|MISSENSE|cGg/cAg|R39Q|288|KLHDC9|protein_coding|CODING|ENST00000392192|exon_1_161068184_161068852 0/1:99:222,0,179 . . . 1 161068441 rs200214202 G A NON_SYNONYMOUS_CODING KLHDC9 MODERATE|MISSENSE|cGg/cAg|R39Q|349|KLHDC9|protein_coding|CODING|ENST00000368011|exon_1_161068184_161068852 0/1:99:222,0,179 . . . 1 161069544 rs1128750 G A NON_SYNONYMOUS_CODING KLHDC9 MODERATE|MISSENSE|Gct/Act|A282T|349|KLHDC9|protein_coding|CODING|ENST00000368011|exon_1_161069388_161069586 . . . 0/1:99:243,0,180 1 161069544 rs1128750 G A NON_SYNONYMOUS_CODING KLHDC9 MODERATE|MISSENSE|aGc/aAc|S288N|288|KLHDC9|protein_coding|CODING|ENST00000392192|exon_1_161069369_161069586 . . . 0/1:99:243,0,180 1 161168189 rs34448954 C T NON_SYNONYMOUS_CODING ADAMTS4 MODERATE|MISSENSE|Gcc/Acc|A77T|339|ADAMTS4|protein_coding|CODING|ENST00000367995|exon_1_161167785_161168843 . 0/1:99:151,0,115 0/1:76:73,0,255 0/1:99:114,0,124 1 161168189 rs34448954 C T NON_SYNONYMOUS_CODING ADAMTS4 MODERATE|MISSENSE|Gcc/Acc|A77T|837|ADAMTS4|protein_coding|CODING|ENST00000367996|exon_1_161167785_161168846 . 0/1:99:151,0,115 0/1:76:73,0,255 0/1:99:114,0,124 1 161182208 rs11576415 C G NON_SYNONYMOUS_CODING NDUFS2 MODERATE|MISSENSE|Cct/Gct|P352A|457|NDUFS2|protein_coding|CODING|ENST00000392179|exon_1_161182141_161182270 . 0/1:99:243,0,255 . 0/1:99:177,0,226 1 161182208 rs11576415 C G NON_SYNONYMOUS_CODING NDUFS2 MODERATE|MISSENSE|Cct/Gct|P352A|463|NDUFS2|protein_coding|CODING|ENST00000367993|exon_1_161182141_161182270 . 0/1:99:243,0,255 . 0/1:99:177,0,226 1 161332307 rs201210474 G C NON_SYNONYMOUS_CODING SDHC MODERATE|MISSENSE|Gaa/Caa|E110Q|116|SDHC|protein_coding|CODING|ENST00000513009|exon_1_161332119_161332330 . . 0/1:99:203,0,163 . 1 161332307 rs201210474 G C NON_SYNONYMOUS_CODING SDHC MODERATE|MISSENSE|Gaa/Caa|E144Q|150|SDHC|protein_coding|CODING|ENST00000342751|exon_1_161332119_161332979 . . 0/1:99:203,0,163 . 1 161518286 rs200727785 C T NON_SYNONYMOUS_CODING FCGR3A MODERATE|MISSENSE|Gac/Aac|D117N|289|FCGR3A|protein_coding|CODING|ENST00000443193|exon_1_161518211_161518465 0/1:99:98,0,255 . . . 1 161518286 rs200727785 C T NON_SYNONYMOUS_CODING FCGR3A MODERATE|MISSENSE|Gac/Aac|D118N|290|FCGR3A|protein_coding|CODING|ENST00000367969|exon_1_161518211_161518468 0/1:99:98,0,255 . . . 1 161518286 rs200727785 C T NON_SYNONYMOUS_CODING FCGR3A MODERATE|MISSENSE|Gac/Aac|D81N|104|FCGR3A|protein_coding|CODING|ENST00000442336|exon_1_161518211_161518465 0/1:99:98,0,255 . . . 1 161518286 rs200727785 C T NON_SYNONYMOUS_CODING FCGR3A MODERATE|MISSENSE|Gac/Aac|D82N|254|FCGR3A|protein_coding|CODING|ENST00000367967|exon_1_161518211_161518468 0/1:99:98,0,255 . . . 1 161518286 rs200727785 C T NON_SYNONYMOUS_CODING FCGR3A MODERATE|MISSENSE|Gac/Aac|D82N|254|FCGR3A|protein_coding|CODING|ENST00000436743|exon_1_161518211_161518468 0/1:99:98,0,255 . . . 1 161518286 rs200727785 C T NON_SYNONYMOUS_CODING FCGR3A MODERATE|MISSENSE|Gac/Aac|D82N|254|FCGR3A|protein_coding|CODING|ENST00000540048|exon_1_161518211_161518468 0/1:99:98,0,255 . . . 1 161518333 rs10127939 A C NON_SYNONYMOUS_CODING FCGR3A MODERATE|MISSENSE|cTc/cGc|L101R|289|FCGR3A|protein_coding|CODING|ENST00000443193|exon_1_161518211_161518465 0/1:99:187,0,247 . . . 1 161518333 rs10127939 A C NON_SYNONYMOUS_CODING FCGR3A MODERATE|MISSENSE|cTc/cGc|L102R|290|FCGR3A|protein_coding|CODING|ENST00000367969|exon_1_161518211_161518468 0/1:99:187,0,247 . . . 1 161518333 rs10127939 A C NON_SYNONYMOUS_CODING FCGR3A MODERATE|MISSENSE|cTc/cGc|L65R|104|FCGR3A|protein_coding|CODING|ENST00000442336|exon_1_161518211_161518465 0/1:99:187,0,247 . . . 1 161518333 rs10127939 A C NON_SYNONYMOUS_CODING FCGR3A MODERATE|MISSENSE|cTc/cGc|L66R|254|FCGR3A|protein_coding|CODING|ENST00000367967|exon_1_161518211_161518468 0/1:99:187,0,247 . . . 1 161518333 rs10127939 A C NON_SYNONYMOUS_CODING FCGR3A MODERATE|MISSENSE|cTc/cGc|L66R|254|FCGR3A|protein_coding|CODING|ENST00000436743|exon_1_161518211_161518468 0/1:99:187,0,247 . . . 1 161518333 rs10127939 A C NON_SYNONYMOUS_CODING FCGR3A MODERATE|MISSENSE|cTc/cGc|L66R|254|FCGR3A|protein_coding|CODING|ENST00000540048|exon_1_161518211_161518468 0/1:99:187,0,247 . . . 1 161565381 rs76277413 A G NON_SYNONYMOUS_CODING FCGR2C MODERATE|MISSENSE|Atg/Gtg|M13V|58|FCGR2C|protein_coding|CODING|ENST00000543859|exon_1_161565343_161565762 0/1:99:253,0,226 . . . 1 161565513 . G A NON_SYNONYMOUS_CODING FCGR2C MODERATE|MISSENSE|Ggg/Agg|G57R|58|FCGR2C|protein_coding|CODING|ENST00000543859|exon_1_161565343_161565762 . . . 0/1:73:70,0,255 1 161599693 rs76714703 T C NON_SYNONYMOUS_CODING FCGR3B MODERATE|MISSENSE|aAc/aGc|N101S|269|FCGR3B|protein_coding|CODING|ENST00000531221|exon_1_161599568_161599825 1/1:75:157,39,0 0/1:18:70,0,15 . 1/1:33:64,18,0 1 161599693 rs76714703 T C NON_SYNONYMOUS_CODING FCGR3B MODERATE|MISSENSE|aAc/aGc|N48S|103|FCGR3B|protein_coding|CODING|ENST00000534776|exon_1_161599568_161599825 1/1:75:157,39,0 0/1:18:70,0,15 . 1/1:33:64,18,0 1 161599693 rs76714703 T C NON_SYNONYMOUS_CODING FCGR3B MODERATE|MISSENSE|aAc/aGc|N65S|233|FCGR3B|protein_coding|CODING|ENST00000294800|exon_1_161599568_161599825 1/1:75:157,39,0 0/1:18:70,0,15 . 1/1:33:64,18,0 1 161599693 rs76714703 T C NON_SYNONYMOUS_CODING FCGR3B MODERATE|MISSENSE|aAc/aGc|N65S|233|FCGR3B|protein_coding|CODING|ENST00000367964|exon_1_161599568_161599825 1/1:75:157,39,0 0/1:18:70,0,15 . 1/1:33:64,18,0 1 161680518 rs61801161 T A NON_SYNONYMOUS_CODING FCRLA MODERATE|MISSENSE|ttT/ttA|F31L|365|FCRLA|protein_coding|CODING|ENST00000540926|exon_1_161680505_161680522 . . 0/1:99:255,0,205 . 1 161681831 . G T NON_SYNONYMOUS_CODING FCRLA MODERATE|MISSENSE|Gcc/Tcc|A114S|270|FCRLA|protein_coding|CODING|ENST00000309691|exon_1_161681724_161682008 . . . 0/1:99:255,0,155 1 161681831 . G T NON_SYNONYMOUS_CODING FCRLA MODERATE|MISSENSE|Gcc/Tcc|A131S|287|FCRLA|protein_coding|CODING|ENST00000546024|exon_1_161681724_161682008 . . . 0/1:99:255,0,155 1 161681831 . G T NON_SYNONYMOUS_CODING FCRLA MODERATE|MISSENSE|Gcc/Tcc|A209S|365|FCRLA|protein_coding|CODING|ENST00000367953|exon_1_161681724_161682008 . . . 0/1:99:255,0,155 1 161681831 . G T NON_SYNONYMOUS_CODING FCRLA MODERATE|MISSENSE|Gcc/Tcc|A209S|365|FCRLA|protein_coding|CODING|ENST00000540926|exon_1_161681724_161682008 . . . 0/1:99:255,0,155 1 161681831 . G T NON_SYNONYMOUS_CODING FCRLA MODERATE|MISSENSE|Gcc/Tcc|A220S|376|FCRLA|protein_coding|CODING|ENST00000236938|exon_1_161681724_161682008 . . . 0/1:99:255,0,155 1 161681831 . G T NON_SYNONYMOUS_CODING FCRLA MODERATE|MISSENSE|Gcc/Tcc|A226S|382|FCRLA|protein_coding|CODING|ENST00000367959|exon_1_161681724_161682008 . . . 0/1:99:255,0,155 1 161681831 . G T NON_SYNONYMOUS_CODING FCRLA MODERATE|MISSENSE|Gcc/Tcc|A69S|225|FCRLA|protein_coding|CODING|ENST00000294796|exon_1_161681724_161682008 . . . 0/1:99:255,0,155 1 161681831 . G T NON_SYNONYMOUS_CODING FCRLA MODERATE|MISSENSE|Gcc/Tcc|A80S|236|FCRLA|protein_coding|CODING|ENST00000367957|exon_1_161681724_161682008 . . . 0/1:99:255,0,155 1 161681831 . G T NON_SYNONYMOUS_CODING FCRLA MODERATE|MISSENSE|Gcc/Tcc|A86S|242|FCRLA|protein_coding|CODING|ENST00000540521|exon_1_161681724_161682008 . . . 0/1:99:255,0,155 1 161683116 . G C NON_SYNONYMOUS_CODING FCRLA MODERATE|MISSENSE|ttG/ttC|L124F|141|FCRLA|protein_coding|CODING|ENST00000350710|exon_1_161682875_161684141 0/1:99:255,0,216 . . . 1 161683116 . G C NON_SYNONYMOUS_CODING FCRLA MODERATE|MISSENSE|ttG/ttC|L135F|152|FCRLA|protein_coding|CODING|ENST00000367950|exon_1_161682875_161683495 0/1:99:255,0,216 . . . 1 161683116 . G C NON_SYNONYMOUS_CODING FCRLA MODERATE|MISSENSE|ttG/ttC|L175F|192|FCRLA|protein_coding|CODING|ENST00000367949|exon_1_161682875_161684141 0/1:99:255,0,216 . . . 1 161683116 . G C NON_SYNONYMOUS_CODING FCRLA MODERATE|MISSENSE|ttG/ttC|L208F|225|FCRLA|protein_coding|CODING|ENST00000294796|exon_1_161682875_161683258 0/1:99:255,0,216 . . . 1 161683116 . G C NON_SYNONYMOUS_CODING FCRLA MODERATE|MISSENSE|ttG/ttC|L219F|236|FCRLA|protein_coding|CODING|ENST00000367957|exon_1_161682875_161684138 0/1:99:255,0,216 . . . 1 161683116 . G C NON_SYNONYMOUS_CODING FCRLA MODERATE|MISSENSE|ttG/ttC|L225F|242|FCRLA|protein_coding|CODING|ENST00000540521|exon_1_161682875_161684141 0/1:99:255,0,216 . . . 1 161683116 . G C NON_SYNONYMOUS_CODING FCRLA MODERATE|MISSENSE|ttG/ttC|L247F|264|FCRLA|protein_coding|CODING|ENST00000349527|exon_1_161682875_161683242 0/1:99:255,0,216 . . . 1 161683116 . G C NON_SYNONYMOUS_CODING FCRLA MODERATE|MISSENSE|ttG/ttC|L253F|270|FCRLA|protein_coding|CODING|ENST00000309691|exon_1_161682875_161683258 0/1:99:255,0,216 . . . 1 161683116 . G C NON_SYNONYMOUS_CODING FCRLA MODERATE|MISSENSE|ttG/ttC|L270F|287|FCRLA|protein_coding|CODING|ENST00000546024|exon_1_161682875_161684141 0/1:99:255,0,216 . . . 1 161683116 . G C NON_SYNONYMOUS_CODING FCRLA MODERATE|MISSENSE|ttG/ttC|L348F|365|FCRLA|protein_coding|CODING|ENST00000367953|exon_1_161682875_161684138 0/1:99:255,0,216 . . . 1 161683116 . G C NON_SYNONYMOUS_CODING FCRLA MODERATE|MISSENSE|ttG/ttC|L348F|365|FCRLA|protein_coding|CODING|ENST00000540926|exon_1_161682875_161684141 0/1:99:255,0,216 . . . 1 161683116 . G C NON_SYNONYMOUS_CODING FCRLA MODERATE|MISSENSE|ttG/ttC|L359F|376|FCRLA|protein_coding|CODING|ENST00000236938|exon_1_161682875_161684138 0/1:99:255,0,216 . . . 1 161683116 . G C NON_SYNONYMOUS_CODING FCRLA MODERATE|MISSENSE|ttG/ttC|L365F|382|FCRLA|protein_coding|CODING|ENST00000367959|exon_1_161682875_161684141 0/1:99:255,0,216 . . . 1 161693199 rs35002732 C T NON_SYNONYMOUS_CODING FCRLB MODERATE|MISSENSE|aCc/aTc|T25I|268|FCRLB|protein_coding|CODING|ENST00000367944|exon_1_161693157_161693411 . 0/1:99:255,0,219 . . 1 161693199 rs35002732 C T NON_SYNONYMOUS_CODING FCRLB MODERATE|MISSENSE|aCc/aTc|T25I|311|FCRLB|protein_coding|CODING|ENST00000367945|exon_1_161693157_161693411 . 0/1:99:255,0,219 . . 1 161693199 rs35002732 C T NON_SYNONYMOUS_CODING FCRLB MODERATE|MISSENSE|aCc/aTc|T32I|275|FCRLB|protein_coding|CODING|ENST00000336830|exon_1_161693157_161693411 . 0/1:99:255,0,219 . . 1 161693199 rs35002732 C T NON_SYNONYMOUS_CODING FCRLB MODERATE|MISSENSE|aCc/aTc|T32I|318|FCRLB|protein_coding|CODING|ENST00000367946|exon_1_161693157_161693411 . 0/1:99:255,0,219 . . 1 161693199 rs35002732 C T NON_SYNONYMOUS_CODING FCRLB MODERATE|MISSENSE|aCc/aTc|T32I|426|FCRLB|protein_coding|CODING|ENST00000367948|exon_1_161693157_161693411 . 0/1:99:255,0,219 . . 1 161693199 rs35002732 C T NON_SYNONYMOUS_CODING FCRLB MODERATE|MISSENSE|aCc/aTc|T32I|426|FCRLB|protein_coding|CODING|ENST00000392158|exon_1_161693157_161693411 . 0/1:99:255,0,219 . . 1 161751741 rs1058405 A G NON_SYNONYMOUS_CODING ATF6 MODERATE|MISSENSE|Atg/Gtg|M67V|670|ATF6|protein_coding|CODING|ENST00000367942|exon_1_161751702_161751789 . . 0/1:99:255,0,255 . 1 161771868 rs141611945 A G NON_SYNONYMOUS_CODING ATF6 MODERATE|MISSENSE|Act/Gct|T239A|670|ATF6|protein_coding|CODING|ENST00000367942|exon_1_161771842_161772062 0/1:99:232,0,255 . . . 1 162367103 rs34001279 G T NON_SYNONYMOUS_CODING SH2D1B MODERATE|MISSENSE|aaC/aaA|N122K|132|SH2D1B|protein_coding|CODING|ENST00000367929|exon_1_162365056_162367105 . . 0/1:99:255,0,233 . 1 162367103 rs34001279 G T NON_SYNONYMOUS_CODING SH2D1B MODERATE|MISSENSE|aaC/aaA|N67K|77|SH2D1B|protein_coding|CODING|ENST00000359567|exon_1_162365373_162367105 . . 0/1:99:255,0,233 . 1 162482366 rs138791425 G C NON_SYNONYMOUS_CODING UHMK1 MODERATE|MISSENSE|Gcc/Ccc|A235P|345|UHMK1|protein_coding|CODING|ENST00000545294|exon_1_162482290_162482366 . . 0/1:99:255,0,255 . 1 162482366 rs138791425 G C NON_SYNONYMOUS_CODING UHMK1 MODERATE|MISSENSE|Gcc/Ccc|A309P|344|UHMK1|protein_coding|CODING|ENST00000538489|exon_1_162482290_162482366 . . 0/1:99:255,0,255 . 1 162482366 rs138791425 G C NON_SYNONYMOUS_CODING UHMK1 MODERATE|MISSENSE|Gcc/Ccc|A309P|419|UHMK1|protein_coding|CODING|ENST00000489294|exon_1_162482290_162482366 . . 0/1:99:255,0,255 . 1 162782145 rs2684875 A G NON_SYNONYMOUS_CODING HSD17B7 MODERATE|MISSENSE|Aag/Gag|K286E|306|HSD17B7|protein_coding|CODING|ENST00000367917|exon_1_162782088_162782607 . 0/1:99:255,0,224 . . 1 162782145 rs2684875 A G NON_SYNONYMOUS_CODING HSD17B7 MODERATE|MISSENSE|Aag/Gag|K321E|341|HSD17B7|protein_coding|CODING|ENST00000254521|exon_1_162782088_162782319 . 0/1:99:255,0,224 . . 1 162825457 rs77227460 C A NON_SYNONYMOUS_CODING C1orf110 MODERATE|MISSENSE|agG/agT|R88S|235|C1orf110|protein_coding|CODING|ENST00000367911|exon_1_162825422_162825545 . . 0/1:99:247,0,255 0/1:99:255,0,159 1 162825457 rs77227460 C A NON_SYNONYMOUS_CODING C1orf110 MODERATE|MISSENSE|agG/agT|R92S|239|C1orf110|protein_coding|CODING|ENST00000367912|exon_1_162825422_162825545 . . 0/1:99:247,0,255 0/1:99:255,0,159 1 162825457 rs77227460 C A NON_SYNONYMOUS_CODING C1orf110 MODERATE|MISSENSE|agG/agT|R93S|302|C1orf110|protein_coding|CODING|ENST00000367910|exon_1_162825422_162825548 . . 0/1:99:247,0,255 0/1:99:255,0,159 1 163313539 rs11802875 C T NON_SYNONYMOUS_CODING NUF2 MODERATE|MISSENSE|tCg/tTg|S229L|417|NUF2|protein_coding|CODING|ENST00000524800|exon_1_163313523_163313660 0/1:99:255,0,255 0/1:99:255,0,255 . . 1 163313539 rs11802875 C T NON_SYNONYMOUS_CODING NUF2 MODERATE|MISSENSE|tCg/tTg|S229L|464|NUF2|protein_coding|CODING|ENST00000271452|exon_1_163313523_163313660 0/1:99:255,0,255 0/1:99:255,0,255 . . 1 163313539 rs11802875 C T NON_SYNONYMOUS_CODING NUF2 MODERATE|MISSENSE|tCg/tTg|S229L|464|NUF2|protein_coding|CODING|ENST00000367900|exon_1_163313523_163313660 0/1:99:255,0,255 0/1:99:255,0,255 . . 1 165601511 . G A NON_SYNONYMOUS_CODING MGST3 MODERATE|MISSENSE|aGa/aAa|R12K|166|MGST3|protein_coding|CODING|ENST00000367883|exon_1_165601468_165601511 0/1:99:99,0,255 . . . 1 165601511 . G A NON_SYNONYMOUS_CODING MGST3 MODERATE|MISSENSE|aGa/aAa|R12K|166|MGST3|protein_coding|CODING|ENST00000367885|exon_1_165601468_165601511 0/1:99:99,0,255 . . . 1 165601511 . G A NON_SYNONYMOUS_CODING MGST3 MODERATE|MISSENSE|aGa/aAa|R12K|166|MGST3|protein_coding|CODING|ENST00000367886|exon_1_165601477_165601511 0/1:99:99,0,255 . . . 1 165601511 . G A NON_SYNONYMOUS_CODING MGST3 MODERATE|MISSENSE|aGa/aAa|R12K|166|MGST3|protein_coding|CODING|ENST00000404549|exon_1_165601474_165601511 0/1:99:99,0,255 . . . 1 167792356 rs72697797 G A NON_SYNONYMOUS_CODING ADCY10 MODERATE|MISSENSE|cCg/cTg|P1200L|1457|ADCY10|protein_coding|CODING|ENST00000545172|exon_1_167792246_167792361 . 0/1:99:255,0,204 . . 1 167792356 rs72697797 G A NON_SYNONYMOUS_CODING ADCY10 MODERATE|MISSENSE|cCg/cTg|P1261L|1518|ADCY10|protein_coding|CODING|ENST00000367848|exon_1_167792246_167792361 . 0/1:99:255,0,204 . . 1 167792356 rs72697797 G A NON_SYNONYMOUS_CODING ADCY10 MODERATE|MISSENSE|cCg/cTg|P1353L|1610|ADCY10|protein_coding|CODING|ENST00000367851|exon_1_167792246_167792361 . 0/1:99:255,0,204 . . 1 167792356 rs72697797 G A NON_SYNONYMOUS_CODING ADCY10 MODERATE|MISSENSE|cCg/cTg|P254L|372|ADCY10|protein_coding|CODING|ENST00000271426|exon_1_167792246_167792361 . 0/1:99:255,0,204 . . 1 170508503 . A G NON_SYNONYMOUS_CODING GORAB MODERATE|MISSENSE|Aga/Gga|R97G|246|GORAB|protein_coding|CODING|ENST00000367762|exon_1_170508351_170508708 . 0/1:99:255,0,255 . . 1 170508503 . A G NON_SYNONYMOUS_CODING GORAB MODERATE|MISSENSE|Aga/Gga|R97G|394|GORAB|protein_coding|CODING|ENST00000367763|exon_1_170508351_170508708 . 0/1:99:255,0,255 . . 1 170993566 rs17346397 C G NON_SYNONYMOUS_CODING C1orf129 MODERATE|MISSENSE|Cga/Gga|R647G|861|C1orf129|protein_coding|CODING|ENST00000367759|exon_1_170993536_170993688 0/1:99:255,0,255 . . . 1 171121206 rs61997161 A T NON_SYNONYMOUS_CODING FMO6P MODERATE|MISSENSE|Aca/Tca|T329S|539|FMO6P|protein_coding|CODING|ENST00000236166|exon_1_171121049_171121404 . . 0/1:99:213,0,255 . 1 171621718 rs199752860 C G NON_SYNONYMOUS_CODING MYOC MODERATE|MISSENSE|Ggg/Cgg|G12R|344|MYOC|protein_coding|CODING|ENST00000537133|exon_1_171621148_171621773 0/1:99:222,0,179 . . . 1 171621718 rs199752860 C G NON_SYNONYMOUS_CODING MYOC MODERATE|MISSENSE|Ggg/Cgg|G12R|457|MYOC|protein_coding|CODING|ENST00000357746|exon_1_171621462_171621857 0/1:99:222,0,179 . . . 1 171621718 rs199752860 C G NON_SYNONYMOUS_CODING MYOC MODERATE|MISSENSE|Ggg/Cgg|G12R|504|MYOC|protein_coding|CODING|ENST00000037502|exon_1_171621148_171621811 0/1:99:222,0,179 . . . 1 172411087 rs34001453 G A NON_SYNONYMOUS_CODING PIGC MODERATE|MISSENSE|Cgg/Tgg|R226W|297|PIGC|protein_coding|CODING|ENST00000258324|exon_1_172410598_172411993 . 0/1:99:255,0,255 . . 1 172411087 rs34001453 G A NON_SYNONYMOUS_CODING PIGC MODERATE|MISSENSE|Cgg/Tgg|R226W|297|PIGC|protein_coding|CODING|ENST00000344529|exon_1_172410597_172411970 . 0/1:99:255,0,255 . . 1 172411087 rs34001453 G A NON_SYNONYMOUS_CODING PIGC MODERATE|MISSENSE|Cgg/Tgg|R226W|297|PIGC|protein_coding|CODING|ENST00000367728|exon_1_172410597_172413226 . 0/1:99:255,0,255 . . 1 173952711 rs72711434 A G NON_SYNONYMOUS_CODING RC3H1 MODERATE|MISSENSE|gTa/gCa|V146A|1125|RC3H1|protein_coding|CODING|ENST00000367694|exon_1_173952556_173952795 . 0/1:99:255,0,253 . . 1 173952711 rs72711434 A G NON_SYNONYMOUS_CODING RC3H1 MODERATE|MISSENSE|gTa/gCa|V146A|1133|RC3H1|protein_coding|CODING|ENST00000258349|exon_1_173952556_173952795 . 0/1:99:255,0,253 . . 1 173952711 rs72711434 A G NON_SYNONYMOUS_CODING RC3H1 MODERATE|MISSENSE|gTa/gCa|V146A|1133|RC3H1|protein_coding|CODING|ENST00000367696|exon_1_173952556_173952795 . 0/1:99:255,0,253 . . 1 174516999 rs41266050 C T NON_SYNONYMOUS_CODING RABGAP1L MODERATE|MISSENSE|Ccg/Tcg|P542S|605|RABGAP1L|protein_coding|CODING|ENST00000357444|exon_1_174516975_174517699 . . 0/1:99:227,0,255 0/1:99:255,0,255 1 174926884 rs77920085 C T NON_SYNONYMOUS_CODING RABGAP1L MODERATE|MISSENSE|Ctt/Ttt|L827F|826|RABGAP1L|protein_coding|CODING|ENST00000367692|exon_1_174926875_174926886 . 0/1:53:50,0,255 . . 1 175360448 . G C NON_SYNONYMOUS_CODING TNR MODERATE|MISSENSE|Cct/Gct|P495A|1268|TNR|protein_coding|CODING|ENST00000367673|exon_1_175360424_175360574 0/1:99:226,0,252 . . . 1 175360448 . G C NON_SYNONYMOUS_CODING TNR MODERATE|MISSENSE|Cct/Gct|P495A|1358|TNR|protein_coding|CODING|ENST00000263525|exon_1_175360424_175360574 0/1:99:226,0,252 . . . 1 175360448 . G C NON_SYNONYMOUS_CODING TNR MODERATE|MISSENSE|Cct/Gct|P495A|1358|TNR|protein_coding|CODING|ENST00000367674|exon_1_175360424_175360574 0/1:99:226,0,252 . . . 1 179414105 rs11577579 A C NON_SYNONYMOUS_CODING AXDND1 MODERATE|MISSENSE|Atc/Ctc|I456L|872|AXDND1|protein_coding|CODING|ENST00000434088|exon_1_179414105_179414339 0/1:99:255,0,234 0/1:99:255,0,241 . 0/1:99:255,0,255 1 179414105 rs11577579 A C NON_SYNONYMOUS_CODING AXDND1 MODERATE|MISSENSE|Atc/Ctc|I480L|896|AXDND1|protein_coding|CODING|ENST00000360322|exon_1_179414105_179414339 0/1:99:255,0,234 0/1:99:255,0,241 . 0/1:99:255,0,255 1 179414105 rs11577579 A C NON_SYNONYMOUS_CODING AXDND1 MODERATE|MISSENSE|Atc/Ctc|I522L|1012|AXDND1|protein_coding|CODING|ENST00000367618|exon_1_179414105_179414339 0/1:99:255,0,234 0/1:99:255,0,241 . 0/1:99:255,0,255 1 179414105 rs11577579 A C NON_SYNONYMOUS_CODING AXDND1 MODERATE|MISSENSE|Atc/Ctc|I522L|655|AXDND1|protein_coding|CODING|ENST00000457238|exon_1_179414105_179414339 0/1:99:255,0,234 0/1:99:255,0,241 . 0/1:99:255,0,255 1 179460806 rs17369441 C T NON_SYNONYMOUS_CODING AXDND1 MODERATE|MISSENSE|gCg/gTg|A676V|872|AXDND1|protein_coding|CODING|ENST00000434088|exon_1_179460673_179460872 0/1:99:253,0,247 . . . 1 179460806 rs17369441 C T NON_SYNONYMOUS_CODING AXDND1 MODERATE|MISSENSE|gCg/gTg|A700V|896|AXDND1|protein_coding|CODING|ENST00000360322|exon_1_179460673_179460872 0/1:99:253,0,247 . . . 1 179460806 rs17369441 C T NON_SYNONYMOUS_CODING AXDND1 MODERATE|MISSENSE|gCg/gTg|A742V|1012|AXDND1|protein_coding|CODING|ENST00000367618|exon_1_179460673_179460872 0/1:99:253,0,247 . . . 1 179600001 rs6704505 A G NON_SYNONYMOUS_CODING TDRD5 MODERATE|MISSENSE|Aaa/Gaa|K358E|1035|TDRD5|protein_coding|CODING|ENST00000444136|exon_1_179599902_179600055 . . . 0/1:99:252,0,217 1 179600001 rs6704505 A G NON_SYNONYMOUS_CODING TDRD5 MODERATE|MISSENSE|Aaa/Gaa|K358E|981|TDRD5|protein_coding|CODING|ENST00000294848|exon_1_179599902_179600055 . . . 0/1:99:252,0,217 1 179600001 rs6704505 A G NON_SYNONYMOUS_CODING TDRD5 MODERATE|MISSENSE|Aaa/Gaa|K358E|981|TDRD5|protein_coding|CODING|ENST00000367614|exon_1_179599902_179600055 . . . 0/1:99:252,0,217 1 179631242 rs35448215 G A NON_SYNONYMOUS_CODING TDRD5 MODERATE|MISSENSE|Gag/Aag|E232K|491|TDRD5|protein_coding|CODING|ENST00000417329|exon_1_179631239_179631421 . 0/1:99:249,0,255 0/1:99:255,0,255 0/1:99:255,0,222 1 179631242 rs35448215 G A NON_SYNONYMOUS_CODING TDRD5 MODERATE|MISSENSE|Gag/Aag|E722K|981|TDRD5|protein_coding|CODING|ENST00000294848|exon_1_179631239_179631421 . 0/1:99:249,0,255 0/1:99:255,0,255 0/1:99:255,0,222 1 179631242 rs35448215 G A NON_SYNONYMOUS_CODING TDRD5 MODERATE|MISSENSE|Gag/Aag|E722K|981|TDRD5|protein_coding|CODING|ENST00000367614|exon_1_179631239_179631421 . 0/1:99:249,0,255 0/1:99:255,0,255 0/1:99:255,0,222 1 179631242 rs35448215 G A NON_SYNONYMOUS_CODING TDRD5 MODERATE|MISSENSE|Gag/Aag|E776K|1035|TDRD5|protein_coding|CODING|ENST00000444136|exon_1_179631239_179631421 . 0/1:99:249,0,255 0/1:99:255,0,255 0/1:99:255,0,222 1 180124061 rs10913933 G C NON_SYNONYMOUS_CODING QSOX1 MODERATE|MISSENSE|Ggc/Cgc|G7R|604|QSOX1|protein_coding|CODING|ENST00000367600|exon_1_180124032_180124307 0/1:99:127,0,143 . . . 1 180124061 rs10913933 G C NON_SYNONYMOUS_CODING QSOX1 MODERATE|MISSENSE|Ggc/Cgc|G7R|747|QSOX1|protein_coding|CODING|ENST00000367602|exon_1_180123969_180124307 0/1:99:127,0,143 . . . 1 180148012 rs17855475 G C NON_SYNONYMOUS_CODING QSOX1 MODERATE|MISSENSE|gGt/gCt|G200A|604|QSOX1|protein_coding|CODING|ENST00000367600|exon_1_180147929_180148019 . 0/1:99:255,0,255 . . 1 180148012 rs17855475 G C NON_SYNONYMOUS_CODING QSOX1 MODERATE|MISSENSE|gGt/gCt|G200A|747|QSOX1|protein_coding|CODING|ENST00000367602|exon_1_180147929_180148019 . 0/1:99:255,0,255 . . 1 180886140 rs79485039 C T NON_SYNONYMOUS_CODING KIAA1614 MODERATE|MISSENSE|Cgc/Tgc|R301C|1190|KIAA1614|protein_coding|CODING|ENST00000367588|exon_1_180885290_180886236 . . . 0/1:99:237,0,210 1 180886216 rs77695365 C T NON_SYNONYMOUS_CODING KIAA1614 MODERATE|MISSENSE|tCc/tTc|S326F|1190|KIAA1614|protein_coding|CODING|ENST00000367588|exon_1_180885290_180886236 0/1:99:255,0,160 . . . 1 180905448 rs3795504 G T NON_SYNONYMOUS_CODING KIAA1614 MODERATE|MISSENSE|ttG/ttT|L422F|811|KIAA1614|protein_coding|CODING|ENST00000367587|exon_1_180904251_180905806 0/1:99:255,0,255 . 0/1:99:156,0,209 0/1:70:67,0,210 1 180905448 rs3795504 G T NON_SYNONYMOUS_CODING KIAA1614 MODERATE|MISSENSE|ttG/ttT|L801F|1190|KIAA1614|protein_coding|CODING|ENST00000367588|exon_1_180904251_180905806 0/1:99:255,0,255 . 0/1:99:156,0,209 0/1:70:67,0,210 1 181018236 rs2236410 A G NON_SYNONYMOUS_CODING MR1 MODERATE|MISSENSE|cAt/cGt|H39R|214|MR1|protein_coding|CODING|ENST00000434571|exon_1_181018188_181018448 . . 0/1:99:124,0,146 . 1 181018236 rs2236410 A G NON_SYNONYMOUS_CODING MR1 MODERATE|MISSENSE|cAt/cGt|H39R|249|MR1|protein_coding|CODING|ENST00000282990|exon_1_181018188_181018448 . . 0/1:99:124,0,146 . 1 181018236 rs2236410 A G NON_SYNONYMOUS_CODING MR1 MODERATE|MISSENSE|cAt/cGt|H39R|296|MR1|protein_coding|CODING|ENST00000367579|exon_1_181018188_181018448 . . 0/1:99:124,0,146 . 1 181018236 rs2236410 A G NON_SYNONYMOUS_CODING MR1 MODERATE|MISSENSE|cAt/cGt|H39R|341|MR1|protein_coding|CODING|ENST00000367580|exon_1_181018188_181018448 . . 0/1:99:124,0,146 . 1 181748580 . G A NON_SYNONYMOUS_CODING CACNA1E MODERATE|MISSENSE|Ggc/Agc|G1689S|2202|CACNA1E|protein_coding|CODING|ENST00000358338|exon_1_181748579_181748675 0/1:99:255,0,255 . . . 1 182026570 . G C NON_SYNONYMOUS_CODING ZNF648 MODERATE|MISSENSE|ttC/ttG|F192L|568|ZNF648|protein_coding|CODING|ENST00000339948|exon_1_182023705_182027208 0/1:99:186,0,255 . . . 1 182423146 rs41299607 G A NON_SYNONYMOUS_CODING RGSL1 MODERATE|MISSENSE|Gat/Aat|D23N|1076|RGSL1|protein_coding|CODING|ENST00000294854|exon_1_182423093_182423175 . . . 0/1:99:255,0,255 1 182423146 rs41299607 G A NON_SYNONYMOUS_CODING RGSL1 MODERATE|MISSENSE|Gat/Aat|D23N|984|RGSL1|protein_coding|CODING|ENST00000542961|exon_1_182423093_182423175 . . . 0/1:99:255,0,255 1 182640864 rs680277 T C NON_SYNONYMOUS_CODING RGS8 MODERATE|MISSENSE|aAc/aGc|N3S|198|RGS8|protein_coding|CODING|ENST00000258302|exon_1_182640792_182640865 0/1:95:92,0,255 . . . 1 183196682 rs147889360 A G NON_SYNONYMOUS_CODING LAMC2 MODERATE|MISSENSE|Att/Gtt|I440V|1010|LAMC2|protein_coding|CODING|ENST00000537180|exon_1_183196650_183196832 . . 0/1:99:255,0,239 . 1 183196682 rs147889360 A G NON_SYNONYMOUS_CODING LAMC2 MODERATE|MISSENSE|Att/Gtt|I440V|1111|LAMC2|protein_coding|CODING|ENST00000493293|exon_1_183196650_183196832 . . 0/1:99:255,0,239 . 1 183196682 rs147889360 A G NON_SYNONYMOUS_CODING LAMC2 MODERATE|MISSENSE|Att/Gtt|I440V|1193|LAMC2|protein_coding|CODING|ENST00000264144|exon_1_183196650_183196832 . . 0/1:99:255,0,239 . 1 183201970 rs2296303 G C NON_SYNONYMOUS_CODING LAMC2 MODERATE|MISSENSE|aGt/aCt|S733T|1010|LAMC2|protein_coding|CODING|ENST00000537180|exon_1_183201787_183201992 . 0/1:99:187,0,255 . 0/1:99:255,0,238 1 183201970 rs2296303 G C NON_SYNONYMOUS_CODING LAMC2 MODERATE|MISSENSE|aGt/aCt|S733T|1111|LAMC2|protein_coding|CODING|ENST00000493293|exon_1_183201787_183201992 . 0/1:99:187,0,255 . 0/1:99:255,0,238 1 183201970 rs2296303 G C NON_SYNONYMOUS_CODING LAMC2 MODERATE|MISSENSE|aGt/aCt|S733T|1193|LAMC2|protein_coding|CODING|ENST00000264144|exon_1_183201787_183201992 . 0/1:99:187,0,255 . 0/1:99:255,0,238 1 183532580 rs17849502 G T NON_SYNONYMOUS_CODING NCF2 MODERATE|MISSENSE|caC/caA|H128Q|142|NCF2|protein_coding|CODING|ENST00000419402|exon_1_183532569_183532720 . . 0/1:99:255,0,224 . 1 183532580 rs17849502 G T NON_SYNONYMOUS_CODING NCF2 MODERATE|MISSENSE|caC/caA|H308Q|445|NCF2|protein_coding|CODING|ENST00000418089|exon_1_183532569_183532720 . . 0/1:99:255,0,224 . 1 183532580 rs17849502 G T NON_SYNONYMOUS_CODING NCF2 MODERATE|MISSENSE|caC/caA|H344Q|481|NCF2|protein_coding|CODING|ENST00000413720|exon_1_183532569_183532720 . . 0/1:99:255,0,224 . 1 183532580 rs17849502 G T NON_SYNONYMOUS_CODING NCF2 MODERATE|MISSENSE|caC/caA|H389Q|526|NCF2|protein_coding|CODING|ENST00000367535|exon_1_183532569_183532720 . . 0/1:99:255,0,224 . 1 183532580 rs17849502 G T NON_SYNONYMOUS_CODING NCF2 MODERATE|MISSENSE|caC/caA|H389Q|526|NCF2|protein_coding|CODING|ENST00000367536|exon_1_183532569_183532720 . . 0/1:99:255,0,224 . 1 183532580 rs17849502 G T NON_SYNONYMOUS_CODING NCF2 MODERATE|MISSENSE|caC/caA|H40Q|55|NCF2|protein_coding|CODING|ENST00000420553|exon_1_183532569_183532720 . . 0/1:99:255,0,224 . 1 183532580 rs17849502 G T NON_SYNONYMOUS_CODING NCF2 MODERATE|MISSENSE|caC/caA|H461Q|598|NCF2|protein_coding|CODING|ENST00000392014|exon_1_183532569_183532720 . . 0/1:99:255,0,224 . 1 183849869 rs12140352 C G NON_SYNONYMOUS_CODING RGL1 MODERATE|MISSENSE|tCt/tGt|S180C|766|RGL1|protein_coding|CODING|ENST00000536277|exon_1_183849750_183849934 . 0/1:99:255,0,255 . . 1 183849869 rs12140352 C G NON_SYNONYMOUS_CODING RGL1 MODERATE|MISSENSE|tCt/tGt|S182C|739|RGL1|protein_coding|CODING|ENST00000539189|exon_1_183849750_183849934 . 0/1:99:255,0,255 . . 1 183849869 rs12140352 C G NON_SYNONYMOUS_CODING RGL1 MODERATE|MISSENSE|tCt/tGt|S182C|768|RGL1|protein_coding|CODING|ENST00000360851|exon_1_183849750_183849934 . 0/1:99:255,0,255 . . 1 183849869 rs12140352 C G NON_SYNONYMOUS_CODING RGL1 MODERATE|MISSENSE|tCt/tGt|S217C|803|RGL1|protein_coding|CODING|ENST00000304685|exon_1_183849750_183849934 . 0/1:99:255,0,255 . . 1 183849869 rs12140352 C G NON_SYNONYMOUS_CODING RGL1 MODERATE|MISSENSE|tCt/tGt|S217C|803|RGL1|protein_coding|CODING|ENST00000367531|exon_1_183849750_183849934 . 0/1:99:255,0,255 . . 1 184041317 rs184488794 G A NON_SYNONYMOUS_CODING TSEN15 MODERATE|MISSENSE|cGa/cAa|R127Q|134|TSEN15|protein_coding|CODING|ENST00000533373|exon_1_184041291_184041328 . . . 0/1:99:255,0,255 1 184041317 rs184488794 G A NON_SYNONYMOUS_CODING TSEN15 MODERATE|MISSENSE|cGa/cAa|R127Q|171|TSEN15|protein_coding|CODING|ENST00000361641|exon_1_184041291_184041432 . . . 0/1:99:255,0,255 1 186072727 rs41317483 G A NON_SYNONYMOUS_CODING HMCN1 MODERATE|MISSENSE|gGc/gAc|G3566D|5518|HMCN1|protein_coding|CODING|ENST00000367492|exon_1_186072604_186072800 . . 0/1:99:255,0,196 . 1 186072727 rs41317483 G A NON_SYNONYMOUS_CODING HMCN1 MODERATE|MISSENSE|gGc/gAc|G3566D|5635|HMCN1|protein_coding|CODING|ENST00000271588|exon_1_186072604_186072800 . . 0/1:99:255,0,196 . 1 196797292 rs388862 G C NON_SYNONYMOUS_CODING CFHR1 MODERATE|MISSENSE|Gaa/Caa|E175Q|330|CFHR1|protein_coding|CODING|ENST00000320493|exon_1_196797200_196797376 . . 1/1:53:61,30,0 . 1 197074168 rs139367209 G A NON_SYNONYMOUS_CODING ASPM MODERATE|MISSENSE|Cgt/Tgt|R1405C|3477|ASPM|protein_coding|CODING|ENST00000367409|exon_1_197069561_197074315 0/1:99:255,0,255 . . . 1 197396761 rs62636287 G A NON_SYNONYMOUS_CODING CRB1 MODERATE|MISSENSE|cGc/cAc|R150H|674|CRB1|protein_coding|CODING|ENST00000367397|exon_1_197396584_197397131 0/1:99:255,0,233 . . . 1 197396761 rs62636287 G A NON_SYNONYMOUS_CODING CRB1 MODERATE|MISSENSE|cGc/cAc|R250H|887|CRB1|protein_coding|CODING|ENST00000544212|exon_1_197396584_197397131 0/1:99:255,0,233 . . . 1 197396761 rs62636287 G A NON_SYNONYMOUS_CODING CRB1 MODERATE|MISSENSE|cGc/cAc|R418H|940|CRB1|protein_coding|CODING|ENST00000367401|exon_1_197396584_197397131 0/1:99:255,0,233 . . . 1 197396761 rs62636287 G A NON_SYNONYMOUS_CODING CRB1 MODERATE|MISSENSE|cGc/cAc|R657H|1294|CRB1|protein_coding|CODING|ENST00000367399|exon_1_197396584_197397131 0/1:99:255,0,233 . . . 1 197396761 rs62636287 G A NON_SYNONYMOUS_CODING CRB1 MODERATE|MISSENSE|cGc/cAc|R700H|1382|CRB1|protein_coding|CODING|ENST00000535699|exon_1_197396584_197397131 0/1:99:255,0,233 . . . 1 197396761 rs62636287 G A NON_SYNONYMOUS_CODING CRB1 MODERATE|MISSENSE|cGc/cAc|R769H|1406|CRB1|protein_coding|CODING|ENST00000367400|exon_1_197396584_197397131 0/1:99:255,0,233 . . . 1 200619614 rs78882239 C T NON_SYNONYMOUS_CODING DDX59 MODERATE|MISSENSE|cGt/cAt|R418H|567|DDX59|protein_coding|CODING|ENST00000367348|exon_1_200619553_200619804 . 0/1:99:255,0,213 . . 1 200619614 rs78882239 C T NON_SYNONYMOUS_CODING DDX59 MODERATE|MISSENSE|cGt/cAt|R418H|580|DDX59|protein_coding|CODING|ENST00000447706|exon_1_200619553_200619804 . 0/1:99:255,0,213 . . 1 200619614 rs78882239 C T NON_SYNONYMOUS_CODING DDX59 MODERATE|MISSENSE|cGt/cAt|R418H|619|DDX59|protein_coding|CODING|ENST00000331314|exon_1_200619553_200619804 . 0/1:99:255,0,213 . . 1 200619614 rs78882239 C T NON_SYNONYMOUS_CODING DDX59 MODERATE|MISSENSE|cGt/cAt|R56H|205|DDX59|protein_coding|CODING|ENST00000413408|exon_1_200619553_200619780 . 0/1:99:255,0,213 . . 1 200619614 rs78882239 C T NON_SYNONYMOUS_CODING DDX59 MODERATE|MISSENSE|cGt/cAt|R61H|223|DDX59|protein_coding|CODING|ENST00000433235|exon_1_200619553_200619804 . 0/1:99:255,0,213 . . 1 200619614 rs78882239 C T NON_SYNONYMOUS_CODING DDX59 MODERATE|MISSENSE|cGt/cAt|R61H|74|DDX59|protein_coding|CODING|ENST00000453944|exon_1_200619571_200619804 . 0/1:99:255,0,213 . . 1 201016296 rs3850625 G A NON_SYNONYMOUS_CODING CACNA1S MODERATE|MISSENSE|Cgc/Tgc|R1520C|1854|CACNA1S|protein_coding|CODING|ENST00000367338|exon_1_201016243_201016367 . 0/1:99:208,0,239 . . 1 201016296 rs3850625 G A NON_SYNONYMOUS_CODING CACNA1S MODERATE|MISSENSE|Cgc/Tgc|R1539C|1873|CACNA1S|protein_coding|CODING|ENST00000362061|exon_1_201016243_201016367 . 0/1:99:208,0,239 . . 1 201177415 rs139658488 G T NON_SYNONYMOUS_CODING IGFN1 MODERATE|MISSENSE|Gcc/Tcc|A1132S|3708|IGFN1|protein_coding|CODING|ENST00000335211|exon_1_201175211_201182749 0/1:99:243,0,224 . . . 1 201178904 rs201227267 A G NON_SYNONYMOUS_CODING IGFN1 MODERATE|MISSENSE|gAa/gGa|E1628G|3708|IGFN1|protein_coding|CODING|ENST00000335211|exon_1_201175211_201182749 . . 0/1:59:56,0,219 . 1 201179050 rs1722732 A G NON_SYNONYMOUS_CODING IGFN1 MODERATE|MISSENSE|Aat/Gat|N1677D|3708|IGFN1|protein_coding|CODING|ENST00000335211|exon_1_201175211_201182749 0/1:62:59,0,255 . . . 1 201179128 rs71635535 G A NON_SYNONYMOUS_CODING IGFN1 MODERATE|MISSENSE|Ggg/Agg|G1703R|3708|IGFN1|protein_coding|CODING|ENST00000335211|exon_1_201175211_201182749 . . 0/1:99:183,0,191 . 1 201180340 rs139390045 A G NON_SYNONYMOUS_CODING IGFN1 MODERATE|MISSENSE|Agg/Ggg|R2107G|3708|IGFN1|protein_coding|CODING|ENST00000335211|exon_1_201175211_201182749 0/1:99:171,0,123 0/1:99:217,0,254 . . 1 201181994 rs6688782 A G NON_SYNONYMOUS_CODING IGFN1 MODERATE|MISSENSE|gAt/gGt|D2658G|3708|IGFN1|protein_coding|CODING|ENST00000335211|exon_1_201175211_201182749 0/1:99:211,0,119 . . . 1 201288955 rs1626370 G A NON_SYNONYMOUS_CODING PKP1 MODERATE|MISSENSE|gGc/gAc|G415D|747|PKP1|protein_coding|CODING|ENST00000263946|exon_1_201288944_201289006 . . 0/1:99:240,0,222 . 1 201288955 rs1626370 G A NON_SYNONYMOUS_CODING PKP1 MODERATE|MISSENSE|gGc/gAc|G415D|747|PKP1|protein_coding|CODING|ENST00000352845|exon_1_201288944_201289006 . . 0/1:99:240,0,222 . 1 201754444 rs16849342 G C NON_SYNONYMOUS_CODING NAV1 MODERATE|MISSENSE|caG/caC|Q445H|729|NAV1|protein_coding|CODING|ENST00000391966|exon_1_201754438_201754479 . . . 0/1:76:169,0,73 1 201754444 rs16849342 G C NON_SYNONYMOUS_CODING NAV1 MODERATE|MISSENSE|caG/caC|Q546H|1483|NAV1|protein_coding|CODING|ENST00000367295|exon_1_201754438_201754479 . . . 0/1:76:169,0,73 1 201754444 rs16849342 G C NON_SYNONYMOUS_CODING NAV1 MODERATE|MISSENSE|caG/caC|Q937H|1817|NAV1|protein_coding|CODING|ENST00000367300|exon_1_201754438_201754479 . . . 0/1:76:169,0,73 1 201754444 rs16849342 G C NON_SYNONYMOUS_CODING NAV1 MODERATE|MISSENSE|caG/caC|Q937H|1869|NAV1|protein_coding|CODING|ENST00000367297|exon_1_201754438_201754479 . . . 0/1:76:169,0,73 1 201754444 rs16849342 G C NON_SYNONYMOUS_CODING NAV1 MODERATE|MISSENSE|caG/caC|Q937H|1874|NAV1|protein_coding|CODING|ENST00000295624|exon_1_201754438_201754479 . . . 0/1:76:169,0,73 1 201754444 rs16849342 G C NON_SYNONYMOUS_CODING NAV1 MODERATE|MISSENSE|caG/caC|Q937H|1877|NAV1|protein_coding|CODING|ENST00000367296|exon_1_201754438_201754479 . . . 0/1:76:169,0,73 1 201754444 rs16849342 G C NON_SYNONYMOUS_CODING NAV1 MODERATE|MISSENSE|caG/caC|Q950H|1830|NAV1|protein_coding|CODING|ENST00000367302|exon_1_201754438_201754479 . . . 0/1:76:169,0,73 1 201869257 rs2820312 G A NON_SYNONYMOUS_CODING LMOD1 MODERATE|MISSENSE|aCg/aTg|T244M|549|LMOD1|protein_coding|CODING|ENST00000412469|exon_1_201868365_201869691 . . . 0/1:99:255,0,229 1 201869257 rs2820312 G A NON_SYNONYMOUS_CODING LMOD1 MODERATE|MISSENSE|aCg/aTg|T295M|599|LMOD1|protein_coding|CODING|ENST00000400965|exon_1_201868365_201869879 . . . 0/1:99:255,0,229 1 201869257 rs2820312 G A NON_SYNONYMOUS_CODING LMOD1 MODERATE|MISSENSE|aCg/aTg|T295M|600|LMOD1|protein_coding|CODING|ENST00000367288|exon_1_201868365_201869879 . . . 0/1:99:255,0,229 1 202097253 . C T NON_SYNONYMOUS_CODING GPR37L1 MODERATE|MISSENSE|Cca/Tca|P206S|348|GPR37L1|protein_coding|CODING|ENST00000541334|exon_1_202096869_202098079 0/1:99:255,0,190 . . . 1 202097253 . C T NON_SYNONYMOUS_CODING GPR37L1 MODERATE|MISSENSE|Cca/Tca|P339S|481|GPR37L1|protein_coding|CODING|ENST00000367282|exon_1_202096869_202098640 0/1:99:255,0,190 . . . 1 202128601 rs61757798 C T NON_SYNONYMOUS_CODING PTPN7 MODERATE|MISSENSE|cGg/cAg|R16Q|399|PTPN7|protein_coding|CODING|ENST00000367279|exon_1_202128409_202129119 . . 0/1:99:229,0,204 . 1 202287754 rs75658797 G A NON_SYNONYMOUS_CODING LGR6 MODERATE|MISSENSE|Gtg/Atg|V636M|828|LGR6|protein_coding|CODING|ENST00000439764|exon_1_202287080_202288335 . . 0/1:99:170,0,195 . 1 202287754 rs75658797 G A NON_SYNONYMOUS_CODING LGR6 MODERATE|MISSENSE|Gtg/Atg|V723M|915|LGR6|protein_coding|CODING|ENST00000255432|exon_1_202287080_202288909 . . 0/1:99:170,0,195 . 1 202287754 rs75658797 G A NON_SYNONYMOUS_CODING LGR6 MODERATE|MISSENSE|Gtg/Atg|V775M|967|LGR6|protein_coding|CODING|ENST00000367278|exon_1_202287080_202288909 . . 0/1:99:170,0,195 . 1 203044777 rs12130501 G A NON_SYNONYMOUS_CODING PPFIA4 MODERATE|MISSENSE|Ggc/Agc|G1134S|1185|PPFIA4|protein_coding|CODING|ENST00000447715|exon_1_203044705_203044885 . . . 0/1:99:201,0,186 1 203044777 rs12130501 G A NON_SYNONYMOUS_CODING PPFIA4 MODERATE|MISSENSE|Ggc/Agc|G1135S|1186|PPFIA4|protein_coding|CODING|ENST00000367240|exon_1_203044705_203044885 . . . 0/1:99:201,0,186 1 203044777 rs12130501 G A NON_SYNONYMOUS_CODING PPFIA4 MODERATE|MISSENSE|Ggc/Agc|G641S|692|PPFIA4|protein_coding|CODING|ENST00000295706|exon_1_203044705_203044885 . . . 0/1:99:201,0,186 1 203044777 rs12130501 G A NON_SYNONYMOUS_CODING PPFIA4 MODERATE|MISSENSE|Ggc/Agc|G650S|701|PPFIA4|protein_coding|CODING|ENST00000272198|exon_1_203044705_203044885 . . . 0/1:99:201,0,186 1 203044777 rs12130501 G A NON_SYNONYMOUS_CODING PPFIA4 MODERATE|MISSENSE|Ggc/Agc|G863S|914|PPFIA4|protein_coding|CODING|ENST00000414050|exon_1_203044705_203044885 . . . 0/1:99:201,0,186 1 203054651 rs61745017 G A NON_SYNONYMOUS_CODING MYOG MODERATE|MISSENSE|Cgc/Tgc|R147C|224|MYOG|protein_coding|CODING|ENST00000241651|exon_1_203054619_203055164 . . . 0/1:99:255,0,185 1 203452781 rs2233726 A G NON_SYNONYMOUS_CODING PRELP MODERATE|MISSENSE|Atg/Gtg|M157V|382|PRELP|protein_coding|CODING|ENST00000343110|exon_1_203452297_203453285 . . 0/1:99:183,0,159 . 1 203455902 rs9439 A C NON_SYNONYMOUS_CODING PRELP MODERATE|MISSENSE|Aac/Cac|N348H|382|PRELP|protein_coding|CODING|ENST00000343110|exon_1_203455834_203460480 . . . 0/1:99:202,0,222 1 203472112 rs79523790 T C NON_SYNONYMOUS_CODING OPTC MODERATE|MISSENSE|cTg/cCg|L268P|332|OPTC|protein_coding|CODING|ENST00000367222|exon_1_203472042_203472137 0/1:99:180,0,255 . 0/1:99:207,0,241 . 1 203743798 rs41264261 C T NON_SYNONYMOUS_CODING LAX1 MODERATE|MISSENSE|Cct/Tct|P380S|382|LAX1|protein_coding|CODING|ENST00000367217|exon_1_203743003_203743850 . . . 0/1:99:255,0,255 1 203743798 rs41264261 C T NON_SYNONYMOUS_CODING LAX1 MODERATE|MISSENSE|Cct/Tct|P396S|398|LAX1|protein_coding|CODING|ENST00000442561|exon_1_203743003_203745245 . . . 0/1:99:255,0,255 1 203767822 rs6697388 T G NON_SYNONYMOUS_CODING ZBED6 MODERATE|MISSENSE|cTg/cGg|L391R|979|ZBED6|protein_coding|CODING|ENST00000550078|exon_1_203765437_203769686 . . . 0/1:99:255,0,228 1 203818873 . A G NON_SYNONYMOUS_CODING ZC3H11A MODERATE|MISSENSE|aAa/aGa|K499R|756|ZC3H11A|protein_coding|CODING|ENST00000537080|exon_1_203818839_203819154 0/1:99:255,0,255 . . . 1 203818873 . A G NON_SYNONYMOUS_CODING ZC3H11A MODERATE|MISSENSE|aAa/aGa|K553R|810|ZC3H11A|protein_coding|CODING|ENST00000332127|exon_1_203818839_203819154 0/1:99:255,0,255 . . . 1 203818873 . A G NON_SYNONYMOUS_CODING ZC3H11A MODERATE|MISSENSE|aAa/aGa|K553R|810|ZC3H11A|protein_coding|CODING|ENST00000367210|exon_1_203818839_203819154 0/1:99:255,0,255 . . . 1 203818873 . A G NON_SYNONYMOUS_CODING ZC3H11A MODERATE|MISSENSE|aAa/aGa|K553R|810|ZC3H11A|protein_coding|CODING|ENST00000367212|exon_1_203818839_203819154 0/1:99:255,0,255 . . . 1 203818873 . A G NON_SYNONYMOUS_CODING ZC3H11A MODERATE|MISSENSE|aAa/aGa|K553R|810|ZC3H11A|protein_coding|CODING|ENST00000367214|exon_1_203818839_203819154 0/1:99:255,0,255 . . . 1 203818873 . A G NON_SYNONYMOUS_CODING ZC3H11A MODERATE|MISSENSE|aAa/aGa|K553R|810|ZC3H11A|protein_coding|CODING|ENST00000545588|exon_1_203818839_203819154 0/1:99:255,0,255 . . . 1 204110547 rs3737657 C T NON_SYNONYMOUS_CODING ETNK2 MODERATE|MISSENSE|cGg/cAg|R158Q|317|ETNK2|protein_coding|CODING|ENST00000367199|exon_1_204110443_204110585 0/1:99:255,0,254 . . . 1 204110547 rs3737657 C T NON_SYNONYMOUS_CODING ETNK2 MODERATE|MISSENSE|cGg/cAg|R227Q|386|ETNK2|protein_coding|CODING|ENST00000367202|exon_1_204110443_204110585 0/1:99:255,0,254 . . . 1 204110547 rs3737657 C T NON_SYNONYMOUS_CODING ETNK2 MODERATE|MISSENSE|cGg/cAg|R227Q|394|ETNK2|protein_coding|CODING|ENST00000367201|exon_1_204110443_204110585 0/1:99:255,0,254 . . . 1 204110547 rs3737657 C T NON_SYNONYMOUS_CODING ETNK2 MODERATE|MISSENSE|cGg/cAg|R49Q|208|ETNK2|protein_coding|CODING|ENST00000367198|exon_1_204110443_204110585 0/1:99:255,0,254 . . . 1 204110547 rs3737657 C T NON_SYNONYMOUS_CODING ETNK2 MODERATE|MISSENSE|cGg/cAg|R73Q|146|ETNK2|protein_coding|CODING|ENST00000444817|exon_1_204110443_204110585 0/1:99:255,0,254 . . . 1 204110547 rs3737657 C T NON_SYNONYMOUS_CODING ETNK2 MODERATE|MISSENSE|cGg/cAg|R84Q|191|ETNK2|protein_coding|CODING|ENST00000452983|exon_1_204110443_204110585 0/1:99:255,0,254 . . . 1 204110547 rs3737657 C T NON_SYNONYMOUS_CODING ETNK2 MODERATE|MISSENSE|cGg/cAg|R93Q|216|ETNK2|protein_coding|CODING|ENST00000422699|exon_1_204110443_204110585 0/1:99:255,0,254 . . . 1 204110547 rs3737657 C T NON_SYNONYMOUS_CODING ETNK2 MODERATE|MISSENSE|cGg/cAg|R93Q|252|ETNK2|protein_coding|CODING|ENST00000455266|exon_1_204110443_204110585 0/1:99:255,0,254 . . . 1 204116624 rs45596637 G T NON_SYNONYMOUS_CODING ETNK2 MODERATE|MISSENSE|gCg/gAg|A27E|216|ETNK2|protein_coding|CODING|ENST00000422699|exon_1_204116588_204116703 . . . 0/1:99:244,0,226 1 204116624 rs45596637 G T NON_SYNONYMOUS_CODING ETNK2 MODERATE|MISSENSE|gCg/gAg|A27E|252|ETNK2|protein_coding|CODING|ENST00000455266|exon_1_204116588_204116703 . . . 0/1:99:244,0,226 1 204159922 rs35431622 T C NON_SYNONYMOUS_CODING KISS1 MODERATE|MISSENSE|cAg/cGg|Q36R|138|KISS1|protein_coding|CODING|ENST00000367194|exon_1_204159469_204159925 . . . 0/1:99:232,0,130 1 205277786 rs142613609 C T NON_SYNONYMOUS_CODING NUAK2 MODERATE|MISSENSE|Gag/Aag|E143K|628|NUAK2|protein_coding|CODING|ENST00000367157|exon_1_205277709_205277860 . . 0/1:99:255,0,255 . 1 205810947 rs11240573 C T NON_SYNONYMOUS_CODING PM20D1 MODERATE|MISSENSE|Ggg/Agg|G346R|502|PM20D1|protein_coding|CODING|ENST00000367136|exon_1_205810939_205811017 . . 0/1:99:255,0,227 . 1 205904888 rs202228683 C T NON_SYNONYMOUS_CODING SLC26A9 MODERATE|MISSENSE|Gac/Aac|D21N|791|SLC26A9|protein_coding|CODING|ENST00000367135|exon_1_205904824_205904966 . . 0/1:99:255,0,255 . 1 205904888 rs202228683 C T NON_SYNONYMOUS_CODING SLC26A9 MODERATE|MISSENSE|Gac/Aac|D21N|887|SLC26A9|protein_coding|CODING|ENST00000340781|exon_1_205904824_205904950 . . 0/1:99:255,0,255 . 1 205904888 rs202228683 C T NON_SYNONYMOUS_CODING SLC26A9 MODERATE|MISSENSE|Gac/Aac|D21N|887|SLC26A9|protein_coding|CODING|ENST00000367134|exon_1_205904824_205904966 . . 0/1:99:255,0,255 . 1 206137383 . A G NON_SYNONYMOUS_CODING FAM72A MODERATE|MISSENSE|Agg/Ggg|R17G|149|FAM72A|protein_coding|CODING|ENST00000367129|exon_1_206137265_206137486 0/1:56:53,0,152 . . . 1 206225011 rs33990840 G C NON_SYNONYMOUS_CODING AVPR1B MODERATE|MISSENSE|Ggc/Cgc|G191R|424|AVPR1B|protein_coding|CODING|ENST00000367126|exon_1_206223976_206225380 0/1:99:186,0,220 0/1:99:238,0,202 0/1:99:200,0,173 . 1 206632156 rs201642341 G A NON_SYNONYMOUS_CODING SRGAP2 MODERATE|MISSENSE|Ggg/Agg|G217R|251|SRGAP2|protein_coding|CODING|ENST00000419187|exon_1_206631969_206632263 . 0/1:99:238,0,255 . . 1 206632156 rs201642341 G A NON_SYNONYMOUS_CODING SRGAP2 MODERATE|MISSENSE|Ggg/Agg|G759R|931|SRGAP2|protein_coding|CODING|ENST00000414007|exon_1_206631969_206632293 . 0/1:99:238,0,255 . . 1 207286381 rs55867570 C A NON_SYNONYMOUS_CODING C4BPA MODERATE|MISSENSE|cCa/cAa|P4Q|151|C4BPA|protein_coding|CODING|ENST00000421786|exon_1_207286244_207286512 . . 0/1:99:255,0,215 . 1 207286381 rs55867570 C A NON_SYNONYMOUS_CODING C4BPA MODERATE|MISSENSE|cCa/cAa|P4Q|597|C4BPA|protein_coding|CODING|ENST00000367070|exon_1_207286346_207286512 . . 0/1:99:255,0,215 . 1 207749005 . C T NON_SYNONYMOUS_CODING CR1 MODERATE|MISSENSE|aCg/aTg|T1056M|2039|CR1|protein_coding|CODING|ENST00000367051|exon_1_207748940_207749025 0/1:99:176,0,219 . . . 1 207749005 . C T NON_SYNONYMOUS_CODING CR1 MODERATE|MISSENSE|aCg/aTg|T1056M|2039|CR1|protein_coding|CODING|ENST00000367052|exon_1_207748940_207749025 0/1:99:176,0,219 . . . 1 207749005 . C T NON_SYNONYMOUS_CODING CR1 MODERATE|MISSENSE|aCg/aTg|T1056M|2039|CR1|protein_coding|CODING|ENST00000367053|exon_1_207748940_207749025 0/1:99:176,0,219 . . . 1 207749005 . C T NON_SYNONYMOUS_CODING CR1 MODERATE|MISSENSE|aCg/aTg|T1056M|2039|CR1|protein_coding|CODING|ENST00000400960|exon_1_207748940_207749025 0/1:99:176,0,219 . . . 1 207749005 . C T NON_SYNONYMOUS_CODING CR1 MODERATE|MISSENSE|aCg/aTg|T1506M|2489|CR1|protein_coding|CODING|ENST00000367049|exon_1_207748940_207749025 0/1:99:176,0,219 . . . 1 207749005 . C T NON_SYNONYMOUS_CODING CR1 MODERATE|MISSENSE|aCg/aTg|T606M|1150|CR1|protein_coding|CODING|ENST00000534202|exon_1_207748940_207749025 0/1:99:176,0,219 . . . 1 207782707 rs17259045 A G NON_SYNONYMOUS_CODING CR1 MODERATE|MISSENSE|aAt/aGt|N1090S|1150|CR1|protein_coding|CODING|ENST00000534202|exon_1_207782635_207782891 . 0/1:99:255,0,255 . . 1 207782707 rs17259045 A G NON_SYNONYMOUS_CODING CR1 MODERATE|MISSENSE|aAt/aGt|N1540S|2039|CR1|protein_coding|CODING|ENST00000367051|exon_1_207782635_207783033 . 0/1:99:255,0,255 . . 1 207782707 rs17259045 A G NON_SYNONYMOUS_CODING CR1 MODERATE|MISSENSE|aAt/aGt|N1540S|2039|CR1|protein_coding|CODING|ENST00000367052|exon_1_207782635_207783033 . 0/1:99:255,0,255 . . 1 207782707 rs17259045 A G NON_SYNONYMOUS_CODING CR1 MODERATE|MISSENSE|aAt/aGt|N1540S|2039|CR1|protein_coding|CODING|ENST00000367053|exon_1_207782635_207783033 . 0/1:99:255,0,255 . . 1 207782707 rs17259045 A G NON_SYNONYMOUS_CODING CR1 MODERATE|MISSENSE|aAt/aGt|N1540S|2039|CR1|protein_coding|CODING|ENST00000400960|exon_1_207782635_207783033 . 0/1:99:255,0,255 . . 1 207782707 rs17259045 A G NON_SYNONYMOUS_CODING CR1 MODERATE|MISSENSE|aAt/aGt|N1990S|2489|CR1|protein_coding|CODING|ENST00000367049|exon_1_207782635_207783033 . 0/1:99:255,0,255 . . 1 207782769 rs41274768 G A NON_SYNONYMOUS_CODING CR1 MODERATE|MISSENSE|Gtg/Atg|V1111M|1150|CR1|protein_coding|CODING|ENST00000534202|exon_1_207782635_207782891 . 0/1:99:255,0,255 . . 1 207782769 rs41274768 G A NON_SYNONYMOUS_CODING CR1 MODERATE|MISSENSE|Gtg/Atg|V1561M|2039|CR1|protein_coding|CODING|ENST00000367051|exon_1_207782635_207783033 . 0/1:99:255,0,255 . . 1 207782769 rs41274768 G A NON_SYNONYMOUS_CODING CR1 MODERATE|MISSENSE|Gtg/Atg|V1561M|2039|CR1|protein_coding|CODING|ENST00000367052|exon_1_207782635_207783033 . 0/1:99:255,0,255 . . 1 207782769 rs41274768 G A NON_SYNONYMOUS_CODING CR1 MODERATE|MISSENSE|Gtg/Atg|V1561M|2039|CR1|protein_coding|CODING|ENST00000367053|exon_1_207782635_207783033 . 0/1:99:255,0,255 . . 1 207782769 rs41274768 G A NON_SYNONYMOUS_CODING CR1 MODERATE|MISSENSE|Gtg/Atg|V1561M|2039|CR1|protein_coding|CODING|ENST00000400960|exon_1_207782635_207783033 . 0/1:99:255,0,255 . . 1 207782769 rs41274768 G A NON_SYNONYMOUS_CODING CR1 MODERATE|MISSENSE|Gtg/Atg|V2011M|2489|CR1|protein_coding|CODING|ENST00000367049|exon_1_207782635_207783033 . 0/1:99:255,0,255 . . 1 207872595 rs12729569 A G NON_SYNONYMOUS_CODING CR1L MODERATE|MISSENSE|Aat/Gat|N402D|443|CR1L|protein_coding|CODING|ENST00000444269|exon_1_207872534_207872619 . . 1/1:99:255,87,0 . 1 207872595 rs12729569 A G NON_SYNONYMOUS_CODING CR1L MODERATE|MISSENSE|Aat/Gat|N402D|569|CR1L|protein_coding|CODING|ENST00000508064|exon_1_207872534_207872619 . . 1/1:99:255,87,0 . 1 208063067 rs2179634 G A NON_SYNONYMOUS_CODING CD34 MODERATE|MISSENSE|gCg/gTg|A39V|227|CD34|protein_coding|CODING|ENST00000367036|exon_1_208063060_208063837 0/1:99:170,0,253 . 0/1:99:246,0,255 . 1 208391098 rs11119014 T C NON_SYNONYMOUS_CODING PLXNA2 MODERATE|MISSENSE|cAa/cGa|Q57R|1894|PLXNA2|protein_coding|CODING|ENST00000367033|exon_1_208390080_208391347 . . . 0/1:99:235,0,191 1 209782343 rs11119314 A G NON_SYNONYMOUS_CODING CAMK1G MODERATE|MISSENSE|cAt/cGt|H193R|244|CAMK1G|protein_coding|CODING|ENST00000423146|exon_1_209782325_209782437 . 1/1:99:255,75,0 1/1:99:255,93,0 0/1:99:234,0,254 1 209796329 rs12748250 T A NON_SYNONYMOUS_CODING LAMB3 MODERATE|MISSENSE|Atg/Ttg|M852L|1172|LAMB3|protein_coding|CODING|ENST00000356082|exon_1_209796327_209796524 . 0/1:99:223,0,227 0/1:99:164,0,255 . 1 209796329 rs12748250 T A NON_SYNONYMOUS_CODING LAMB3 MODERATE|MISSENSE|Atg/Ttg|M852L|1172|LAMB3|protein_coding|CODING|ENST00000367030|exon_1_209796327_209796524 . 0/1:99:223,0,227 0/1:99:164,0,255 . 1 209796329 rs12748250 T A NON_SYNONYMOUS_CODING LAMB3 MODERATE|MISSENSE|Atg/Ttg|M852L|1172|LAMB3|protein_coding|CODING|ENST00000391911|exon_1_209796327_209796524 . 0/1:99:223,0,227 0/1:99:164,0,255 . 1 210857116 rs115026899 C A NON_SYNONYMOUS_CODING KCNH1 MODERATE|MISSENSE|gGg/gTg|G799V|962|KCNH1|protein_coding|CODING|ENST00000367007|exon_1_210856580_210857480 0/1:99:239,0,143 . . 0/1:99:205,0,235 1 210857116 rs115026899 C A NON_SYNONYMOUS_CODING KCNH1 MODERATE|MISSENSE|gGg/gTg|G826V|989|KCNH1|protein_coding|CODING|ENST00000271751|exon_1_210856555_210857480 0/1:99:239,0,143 . . 0/1:99:205,0,235 1 212587320 rs4951595 T C NON_SYNONYMOUS_CODING TMEM206 MODERATE|MISSENSE|Aac/Gac|N47D|411|TMEM206|protein_coding|CODING|ENST00000535273|exon_1_212587240_212587422 . . 0/1:99:237,0,223 . 1 212799535 rs114509113 G A NON_SYNONYMOUS_CODING FAM71A MODERATE|MISSENSE|cGc/cAc|R214H|369|FAM71A|protein_coding|CODING|ENST00000545975|exon_1_212798895_212800114 . . 0/1:99:184,0,239 . 1 212799535 rs114509113 G A NON_SYNONYMOUS_CODING FAM71A MODERATE|MISSENSE|cGc/cAc|R439H|594|FAM71A|protein_coding|CODING|ENST00000294829|exon_1_212797789_212800120 . . 0/1:99:184,0,239 . 1 212799538 . G A NON_SYNONYMOUS_CODING FAM71A MODERATE|MISSENSE|cGc/cAc|R215H|369|FAM71A|protein_coding|CODING|ENST00000545975|exon_1_212798895_212800114 0/1:99:191,0,154 . . . 1 212799538 . G A NON_SYNONYMOUS_CODING FAM71A MODERATE|MISSENSE|cGc/cAc|R440H|594|FAM71A|protein_coding|CODING|ENST00000294829|exon_1_212797789_212800120 0/1:99:191,0,154 . . . 1 213173696 rs143386835 G T NON_SYNONYMOUS_CODING ANGEL2 MODERATE|MISSENSE|Caa/Aaa|Q262K|375|ANGEL2|protein_coding|CODING|ENST00000360506|exon_1_213173668_213173725 0/1:99:255,0,253 . . . 1 213173696 rs143386835 G T NON_SYNONYMOUS_CODING ANGEL2 MODERATE|MISSENSE|Caa/Aaa|Q262K|375|ANGEL2|protein_coding|CODING|ENST00000544555|exon_1_213173668_213173725 0/1:99:255,0,253 . . . 1 213173696 rs143386835 G T NON_SYNONYMOUS_CODING ANGEL2 MODERATE|MISSENSE|Caa/Aaa|Q305K|418|ANGEL2|protein_coding|CODING|ENST00000540642|exon_1_213173668_213173725 0/1:99:255,0,253 . . . 1 213173696 rs143386835 G T NON_SYNONYMOUS_CODING ANGEL2 MODERATE|MISSENSE|Caa/Aaa|Q431K|544|ANGEL2|protein_coding|CODING|ENST00000366962|exon_1_213173668_213173725 0/1:99:255,0,253 . . . 1 214510115 rs11120301 T G NON_SYNONYMOUS_CODING SMYD2 MODERATE|MISSENSE|atT/atG|I430M|433|SMYD2|protein_coding|CODING|ENST00000366957|exon_1_214510047_214510474 0/1:99:253,0,210 . . . 1 214813782 rs3795524 A G NON_SYNONYMOUS_CODING CENPF MODERATE|MISSENSE|Atg/Gtg|M701V|3114|CENPF|protein_coding|CODING|ENST00000366955|exon_1_214813264_214816667 0/1:99:255,0,255 . . . 1 214813941 rs3795523 C G NON_SYNONYMOUS_CODING CENPF MODERATE|MISSENSE|Caa/Gaa|Q754E|3114|CENPF|protein_coding|CODING|ENST00000366955|exon_1_214813264_214816667 0/1:99:255,0,255 . . . 1 214814125 rs3795522 G A NON_SYNONYMOUS_CODING CENPF MODERATE|MISSENSE|cGt/cAt|R815H|3114|CENPF|protein_coding|CODING|ENST00000366955|exon_1_214813264_214816667 0/1:99:255,0,255 . . . 1 214814733 rs3795519 T G NON_SYNONYMOUS_CODING CENPF MODERATE|MISSENSE|Tac/Gac|Y1018D|3114|CENPF|protein_coding|CODING|ENST00000366955|exon_1_214813264_214816667 0/1:99:255,0,255 . . . 1 214814778 rs3795518 G A NON_SYNONYMOUS_CODING CENPF MODERATE|MISSENSE|Gga/Aga|G1033R|3114|CENPF|protein_coding|CODING|ENST00000366955|exon_1_214813264_214816667 0/1:99:244,0,255 . . . 1 214814925 rs61732031 C T NON_SYNONYMOUS_CODING CENPF MODERATE|MISSENSE|Cac/Tac|H1082Y|3114|CENPF|protein_coding|CODING|ENST00000366955|exon_1_214813264_214816667 0/1:99:255,0,255 . . . 1 214814995 rs12067133 C T NON_SYNONYMOUS_CODING CENPF MODERATE|MISSENSE|aCa/aTa|T1105I|3114|CENPF|protein_coding|CODING|ENST00000366955|exon_1_214813264_214816667 0/1:99:255,0,255 . . . 1 214815916 rs3795517 T C NON_SYNONYMOUS_CODING CENPF MODERATE|MISSENSE|tTa/tCa|L1412S|3114|CENPF|protein_coding|CODING|ENST00000366955|exon_1_214813264_214816667 0/1:99:255,0,227 . . . 1 214818215 rs3748692 G A NON_SYNONYMOUS_CODING CENPF MODERATE|MISSENSE|Gat/Aat|D1768N|3114|CENPF|protein_coding|CODING|ENST00000366955|exon_1_214817900_214820743 0/1:99:255,0,255 . . . 1 214818548 rs61732022 C T NON_SYNONYMOUS_CODING CENPF MODERATE|MISSENSE|Cgt/Tgt|R1879C|3114|CENPF|protein_coding|CODING|ENST00000366955|exon_1_214817900_214820743 0/1:99:255,0,255 . . . 1 214818846 rs3790646 A G NON_SYNONYMOUS_CODING CENPF MODERATE|MISSENSE|gAt/gGt|D1978G|3114|CENPF|protein_coding|CODING|ENST00000366955|exon_1_214817900_214820743 0/1:99:255,0,255 . . . 1 214818945 rs3790647 A C NON_SYNONYMOUS_CODING CENPF MODERATE|MISSENSE|gAa/gCa|E2011A|3114|CENPF|protein_coding|CODING|ENST00000366955|exon_1_214817900_214820743 0/1:99:197,0,251 . . . 1 214819044 rs7533166 C T NON_SYNONYMOUS_CODING CENPF MODERATE|MISSENSE|tCa/tTa|S2044L|3114|CENPF|protein_coding|CODING|ENST00000366955|exon_1_214817900_214820743 0/1:99:255,0,222 . . . 1 214819328 rs3748695 G A NON_SYNONYMOUS_CODING CENPF MODERATE|MISSENSE|Gca/Aca|A2139T|3114|CENPF|protein_coding|CODING|ENST00000366955|exon_1_214817900_214820743 0/1:99:255,0,255 . . . 1 214819587 rs12058704 A G NON_SYNONYMOUS_CODING CENPF MODERATE|MISSENSE|cAg/cGg|Q2225R|3114|CENPF|protein_coding|CODING|ENST00000366955|exon_1_214817900_214820743 0/1:99:255,0,255 . . . 1 214819980 rs3748696 C T NON_SYNONYMOUS_CODING CENPF MODERATE|MISSENSE|gCt/gTt|A2356V|3114|CENPF|protein_coding|CODING|ENST00000366955|exon_1_214817900_214820743 0/1:99:255,0,255 . . . 1 215820902 rs56136489 G A NON_SYNONYMOUS_CODING USH2A MODERATE|MISSENSE|aCg/aTg|T4918M|5202|USH2A|protein_coding|CODING|ENST00000307340|exon_1_215820864_215821072 . . 0/1:99:255,0,255 . 1 215820902 rs56136489 G A NON_SYNONYMOUS_CODING USH2A MODERATE|MISSENSE|aCg/aTg|T4918M|5226|USH2A|protein_coding|CODING|ENST00000366943|exon_1_215820864_215821072 . . 0/1:99:255,0,255 . 1 215914826 rs35309576 T C NON_SYNONYMOUS_CODING USH2A MODERATE|MISSENSE|Atg/Gtg|M3868V|5202|USH2A|protein_coding|CODING|ENST00000307340|exon_1_215914717_215914879 . . . 0/1:99:211,0,228 1 215914826 rs35309576 T C NON_SYNONYMOUS_CODING USH2A MODERATE|MISSENSE|Atg/Gtg|M3868V|5226|USH2A|protein_coding|CODING|ENST00000366943|exon_1_215914717_215914879 . . . 0/1:99:211,0,228 1 215916563 rs11120616 G A NON_SYNONYMOUS_CODING USH2A MODERATE|MISSENSE|aCt/aTt|T3835I|5202|USH2A|protein_coding|CODING|ENST00000307340|exon_1_215916519_215916677 . . . 0/1:99:192,0,225 1 215916563 rs11120616 G A NON_SYNONYMOUS_CODING USH2A MODERATE|MISSENSE|aCt/aTt|T3835I|5226|USH2A|protein_coding|CODING|ENST00000366943|exon_1_215916519_215916677 . . . 0/1:99:192,0,225 1 216251593 rs201804063 T C NON_SYNONYMOUS_CODING USH2A MODERATE|MISSENSE|Att/Gtt|I1804V|5202|USH2A|protein_coding|CODING|ENST00000307340|exon_1_216251431_216251704 . . 0/1:99:255,0,252 . 1 216251593 rs201804063 T C NON_SYNONYMOUS_CODING USH2A MODERATE|MISSENSE|Att/Gtt|I1804V|5226|USH2A|protein_coding|CODING|ENST00000366943|exon_1_216251431_216251704 . . 0/1:99:255,0,252 . 1 216462662 rs1805048 T A NON_SYNONYMOUS_CODING USH2A MODERATE|MISSENSE|gAt/gTt|D644V|1546|USH2A|protein_coding|CODING|ENST00000366942|exon_1_216462622_216462752 . . 0/1:99:255,0,255 . 1 216462662 rs1805048 T A NON_SYNONYMOUS_CODING USH2A MODERATE|MISSENSE|gAt/gTt|D644V|5202|USH2A|protein_coding|CODING|ENST00000307340|exon_1_216462622_216462752 . . 0/1:99:255,0,255 . 1 216462662 rs1805048 T A NON_SYNONYMOUS_CODING USH2A MODERATE|MISSENSE|gAt/gTt|D644V|5226|USH2A|protein_coding|CODING|ENST00000366943|exon_1_216462622_216462752 . . 0/1:99:255,0,255 . 1 217804767 rs34652544 A G NON_SYNONYMOUS_CODING SPATA17 MODERATE|MISSENSE|aAt/aGt|N16S|361|SPATA17|protein_coding|CODING|ENST00000366933|exon_1_217804666_217804788 . 0/1:99:187,0,255 . . 1 220331205 rs2289189 C G NON_SYNONYMOUS_CODING RAB3GAP2 MODERATE|MISSENSE|aGt/aCt|S1092T|1393|RAB3GAP2|protein_coding|CODING|ENST00000358951|exon_1_220331144_220331218 0/1:99:224,0,255 . . . 1 221053600 rs201006102 A C NON_SYNONYMOUS_CODING HLX MODERATE|MISSENSE|cAg/cCg|Q134P|488|HLX|protein_coding|CODING|ENST00000366903|exon_1_221051699_221053791 0/1:67:64,0,210 . . . 1 222713501 rs3748663 C A NON_SYNONYMOUS_CODING HHIPL2 MODERATE|MISSENSE|cGc/cTc|R434L|724|HHIPL2|protein_coding|CODING|ENST00000343410|exon_1_222713352_222713683 . 0/1:99:255,0,255 . 0/1:99:235,0,240 1 222713600 . T C NON_SYNONYMOUS_CODING HHIPL2 MODERATE|MISSENSE|aAt/aGt|N401S|724|HHIPL2|protein_coding|CODING|ENST00000343410|exon_1_222713352_222713683 . . 0/1:99:255,0,252 . 1 222713621 rs3748665 C T NON_SYNONYMOUS_CODING HHIPL2 MODERATE|MISSENSE|cGg/cAg|R394Q|724|HHIPL2|protein_coding|CODING|ENST00000343410|exon_1_222713352_222713683 . 0/1:99:255,0,255 . 0/1:99:178,0,255 1 223284599 rs2072493 T C NON_SYNONYMOUS_CODING TLR5 MODERATE|MISSENSE|aAt/aGt|N592S|858|TLR5|protein_coding|CODING|ENST00000342210|exon_1_223283707_223286377 . 0/1:99:255,0,255 0/1:99:220,0,255 . 1 223284599 rs2072493 T C NON_SYNONYMOUS_CODING TLR5 MODERATE|MISSENSE|aAt/aGt|N592S|858|TLR5|protein_coding|CODING|ENST00000366881|exon_1_223283647_223286377 . 0/1:99:255,0,255 0/1:99:220,0,255 . 1 223284599 rs2072493 T C NON_SYNONYMOUS_CODING TLR5 MODERATE|MISSENSE|aAt/aGt|N592S|858|TLR5|protein_coding|CODING|ENST00000540964|exon_1_223282748_223286377 . 0/1:99:255,0,255 0/1:99:220,0,255 . 1 223566876 rs75945379 G A NON_SYNONYMOUS_CODING C1orf65 MODERATE|MISSENSE|cGg/cAg|R20Q|623|C1orf65|protein_coding|CODING|ENST00000366875|exon_1_223566715_223568812 . . 0/1:99:165,0,225 . 1 223567401 rs6689850 T C NON_SYNONYMOUS_CODING C1orf65 MODERATE|MISSENSE|gTg/gCg|V195A|623|C1orf65|protein_coding|CODING|ENST00000366875|exon_1_223566715_223568812 . . 0/1:99:233,0,220 . 1 223567808 rs6682552 C T NON_SYNONYMOUS_CODING C1orf65 MODERATE|MISSENSE|Cgg/Tgg|R331W|623|C1orf65|protein_coding|CODING|ENST00000366875|exon_1_223566715_223568812 . . 0/1:99:230,0,129 . 1 223985963 rs61824007 C G NON_SYNONYMOUS_CODING TP53BP2 MODERATE|MISSENSE|caG/caC|Q505H|1005|TP53BP2|protein_coding|CODING|ENST00000391878|exon_1_223985917_223986379 . 0/1:99:209,0,234 . . 1 223985963 rs61824007 C G NON_SYNONYMOUS_CODING TP53BP2 MODERATE|MISSENSE|caG/caC|Q634H|1134|TP53BP2|protein_coding|CODING|ENST00000343537|exon_1_223985917_223986379 . 0/1:99:209,0,234 . . 1 223989952 . C T NON_SYNONYMOUS_CODING TP53BP2 MODERATE|MISSENSE|cGg/cAg|R235Q|1005|TP53BP2|protein_coding|CODING|ENST00000391878|exon_1_223989818_223990046 0/1:99:255,0,217 . . . 1 223989952 . C T NON_SYNONYMOUS_CODING TP53BP2 MODERATE|MISSENSE|cGg/cAg|R364Q|1134|TP53BP2|protein_coding|CODING|ENST00000343537|exon_1_223989818_223990046 0/1:99:255,0,217 . . . 1 223991959 rs61749337 G A NON_SYNONYMOUS_CODING TP53BP2 MODERATE|MISSENSE|gCt/gTt|A189V|1134|TP53BP2|protein_coding|CODING|ENST00000343537|exon_1_223991876_223992050 . 0/1:99:255,0,233 . . 1 223991959 rs61749337 G A NON_SYNONYMOUS_CODING TP53BP2 MODERATE|MISSENSE|gCt/gTt|A60V|1005|TP53BP2|protein_coding|CODING|ENST00000391878|exon_1_223991876_223992050 . 0/1:99:255,0,233 . . 1 224415342 rs41271483 A G NON_SYNONYMOUS_CODING NVL MODERATE|MISSENSE|Tcc/Ccc|S577P|580|NVL|protein_coding|CODING|ENST00000482491|exon_1_224415156_224415372 . . 0/1:99:241,0,240 . 1 224415342 rs41271483 A G NON_SYNONYMOUS_CODING NVL MODERATE|MISSENSE|Tcc/Ccc|S664P|667|NVL|protein_coding|CODING|ENST00000340871|exon_1_224415156_224415372 . . 0/1:99:241,0,240 . 1 224415342 rs41271483 A G NON_SYNONYMOUS_CODING NVL MODERATE|MISSENSE|Tcc/Ccc|S747P|750|NVL|protein_coding|CODING|ENST00000391875|exon_1_224415036_224415372 . . 0/1:99:241,0,240 . 1 224415342 rs41271483 A G NON_SYNONYMOUS_CODING NVL MODERATE|MISSENSE|Tcc/Ccc|S762P|765|NVL|protein_coding|CODING|ENST00000469075|exon_1_224415071_224415372 . . 0/1:99:241,0,240 . 1 224415342 rs41271483 A G NON_SYNONYMOUS_CODING NVL MODERATE|MISSENSE|Tcc/Ccc|S853P|856|NVL|protein_coding|CODING|ENST00000281701|exon_1_224415036_224415372 . . 0/1:99:241,0,240 . 1 225152253 rs41267349 C T NON_SYNONYMOUS_CODING DNAH14 MODERATE|MISSENSE|cCg/cTg|P147L|228|DNAH14|protein_coding|CODING|ENST00000366848|exon_1_225152181_225152311 . . . 0/1:99:255,0,232 1 225152253 rs41267349 C T NON_SYNONYMOUS_CODING DNAH14 MODERATE|MISSENSE|cCg/cTg|P147L|228|DNAH14|protein_coding|CODING|ENST00000366850|exon_1_225152181_225152311 . . . 0/1:99:255,0,232 1 225152253 rs41267349 C T NON_SYNONYMOUS_CODING DNAH14 MODERATE|MISSENSE|cCg/cTg|P147L|430|DNAH14|protein_coding|CODING|ENST00000366849|exon_1_225152181_225152311 . . . 0/1:99:255,0,232 1 225152253 rs41267349 C T NON_SYNONYMOUS_CODING DNAH14 MODERATE|MISSENSE|cCg/cTg|P147L|4515|DNAH14|protein_coding|CODING|ENST00000430092|exon_1_225152181_225152311 . . . 0/1:99:255,0,232 1 225152253 rs41267349 C T NON_SYNONYMOUS_CODING DNAH14 MODERATE|MISSENSE|cCg/cTg|P147L|4515|DNAH14|protein_coding|CODING|ENST00000439375|exon_1_225152181_225152311 . . . 0/1:99:255,0,232 1 225152253 rs41267349 C T NON_SYNONYMOUS_CODING DNAH14 MODERATE|MISSENSE|cCg/cTg|P147L|453|DNAH14|protein_coding|CODING|ENST00000400952|exon_1_225152181_225152311 . . . 0/1:99:255,0,232 1 225152253 rs41267349 C T NON_SYNONYMOUS_CODING DNAH14 MODERATE|MISSENSE|cCg/cTg|P274L|3507|DNAH14|protein_coding|CODING|ENST00000445597|exon_1_225152181_225152311 . . . 0/1:99:255,0,232 1 225237950 rs78320839 A G NON_SYNONYMOUS_CODING DNAH14 MODERATE|MISSENSE|Atc/Gtc|I622V|3507|DNAH14|protein_coding|CODING|ENST00000445597|exon_1_225237912_225238078 . . . 0/1:99:225,0,255 1 225237950 rs78320839 A G NON_SYNONYMOUS_CODING DNAH14 MODERATE|MISSENSE|Atc/Gtc|I651V|4515|DNAH14|protein_coding|CODING|ENST00000430092|exon_1_225237912_225238078 . . . 0/1:99:225,0,255 1 225237950 rs78320839 A G NON_SYNONYMOUS_CODING DNAH14 MODERATE|MISSENSE|Atc/Gtc|I651V|4515|DNAH14|protein_coding|CODING|ENST00000439375|exon_1_225237912_225238078 . . . 0/1:99:225,0,255 1 225528340 rs12184324 C T NON_SYNONYMOUS_CODING DNAH14 MODERATE|MISSENSE|Ctt/Ttt|L2643F|3507|DNAH14|protein_coding|CODING|ENST00000445597|exon_1_225528159_225528403 . . . 0/1:99:255,0,255 1 225528340 rs12184324 C T NON_SYNONYMOUS_CODING DNAH14 MODERATE|MISSENSE|Ctt/Ttt|L3446F|4515|DNAH14|protein_coding|CODING|ENST00000430092|exon_1_225528159_225528403 . . . 0/1:99:255,0,255 1 225528340 rs12184324 C T NON_SYNONYMOUS_CODING DNAH14 MODERATE|MISSENSE|Ctt/Ttt|L3446F|4515|DNAH14|protein_coding|CODING|ENST00000439375|exon_1_225528159_225528403 . . . 0/1:99:255,0,255 1 225533861 rs74147200 A G NON_SYNONYMOUS_CODING DNAH14 MODERATE|MISSENSE|Atg/Gtg|M2730V|3507|DNAH14|protein_coding|CODING|ENST00000445597|exon_1_225533664_225534082 . . . 0/1:99:223,0,255 1 225533861 rs74147200 A G NON_SYNONYMOUS_CODING DNAH14 MODERATE|MISSENSE|Atg/Gtg|M3533V|4515|DNAH14|protein_coding|CODING|ENST00000430092|exon_1_225533664_225534082 . . . 0/1:99:223,0,255 1 225533861 rs74147200 A G NON_SYNONYMOUS_CODING DNAH14 MODERATE|MISSENSE|Atg/Gtg|M3533V|4515|DNAH14|protein_coding|CODING|ENST00000439375|exon_1_225533664_225534082 . . . 0/1:99:223,0,255 1 225539363 rs12408617 G A NON_SYNONYMOUS_CODING DNAH14 MODERATE|MISSENSE|Ggt/Agt|G2875S|3507|DNAH14|protein_coding|CODING|ENST00000445597|exon_1_225539349_225539585 . . . 0/1:99:255,0,206 1 225539363 rs12408617 G A NON_SYNONYMOUS_CODING DNAH14 MODERATE|MISSENSE|Ggt/Agt|G3678S|4515|DNAH14|protein_coding|CODING|ENST00000430092|exon_1_225539349_225539585 . . . 0/1:99:255,0,206 1 225539363 rs12408617 G A NON_SYNONYMOUS_CODING DNAH14 MODERATE|MISSENSE|Ggt/Agt|G3678S|4515|DNAH14|protein_coding|CODING|ENST00000439375|exon_1_225539349_225539585 . . . 0/1:99:255,0,206 1 225586274 rs41304131 G T NON_SYNONYMOUS_CODING DNAH14 MODERATE|MISSENSE|gGg/gTg|G3405V|3507|DNAH14|protein_coding|CODING|ENST00000445597|exon_1_225586222_225586368 0/1:99:255,0,255 . . . 1 225586274 rs41304131 G T NON_SYNONYMOUS_CODING DNAH14 MODERATE|MISSENSE|gGg/gTg|G4413V|4515|DNAH14|protein_coding|CODING|ENST00000430092|exon_1_225586222_225586368 0/1:99:255,0,255 . . . 1 225586274 rs41304131 G T NON_SYNONYMOUS_CODING DNAH14 MODERATE|MISSENSE|gGg/gTg|G4413V|4515|DNAH14|protein_coding|CODING|ENST00000439375|exon_1_225586222_225586368 0/1:99:255,0,255 . . . 1 226924642 rs3754415 C T NON_SYNONYMOUS_CODING ITPKB MODERATE|MISSENSE|cGc/cAc|R173H|644|ITPKB|protein_coding|CODING|ENST00000366784|exon_1_226923228_226925364 . . . 0/1:99:122,0,214 1 226924642 rs3754415 C T NON_SYNONYMOUS_CODING ITPKB MODERATE|MISSENSE|cGc/cAc|R173H|946|ITPKB|protein_coding|CODING|ENST00000272117|exon_1_226923228_226925159 . . . 0/1:99:122,0,214 1 226924642 rs3754415 C T NON_SYNONYMOUS_CODING ITPKB MODERATE|MISSENSE|cGc/cAc|R173H|946|ITPKB|protein_coding|CODING|ENST00000429204|exon_1_226923228_226925364 . . . 0/1:99:122,0,214 1 227922866 rs201199352 C T NON_SYNONYMOUS_CODING JMJD4 MODERATE|MISSENSE|Ggc/Agc|G83S|463|JMJD4|protein_coding|CODING|ENST00000366758|exon_1_227922713_227923112 . . . 0/1:99:205,0,127 1 228004966 rs61826983 C A NON_SYNONYMOUS_CODING PRSS38 MODERATE|MISSENSE|gCc/gAc|A123D|326|PRSS38|protein_coding|CODING|ENST00000366757|exon_1_228004910_228005181 . . . 0/1:99:255,0,251 1 228033258 rs61741607 T A NON_SYNONYMOUS_CODING PRSS38 MODERATE|MISSENSE|aTc/aAc|I224N|326|PRSS38|protein_coding|CODING|ENST00000366757|exon_1_228033171_228033313 . . . 0/1:99:186,0,131 1 228290033 rs61825155 T C NON_SYNONYMOUS_CODING C1orf35 MODERATE|MISSENSE|aAa/aGa|K142R|263|C1orf35|protein_coding|CODING|ENST00000272139|exon_1_228290011_228290083 . . . 0/1:62:59,0,200 1 228404305 rs180689095 G A NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|cGg/cAg|R760Q|6620|OBSCN|protein_coding|CODING|ENST00000284548|exon_1_228404122_228404403 . . . 0/1:99:153,0,100 1 228404305 rs180689095 G A NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|cGg/cAg|R760Q|7968|OBSCN|protein_coding|CODING|ENST00000422127|exon_1_228404122_228404403 . . . 0/1:99:153,0,100 1 228404305 rs180689095 G A NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|cGg/cAg|R760Q|8678|OBSCN|protein_coding|CODING|ENST00000570156|exon_1_228404122_228404403 . . . 0/1:99:153,0,100 1 228451826 rs453140 C T NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|gCg/gTg|A1532V|6620|OBSCN|protein_coding|CODING|ENST00000284548|exon_1_228451817_228452092 1/1:99:255,69,0 0/1:99:255,0,246 . . 1 228451826 rs453140 C T NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|gCg/gTg|A1532V|7968|OBSCN|protein_coding|CODING|ENST00000422127|exon_1_228451817_228452092 1/1:99:255,69,0 0/1:99:255,0,246 . . 1 228451826 rs453140 C T NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|gCg/gTg|A1624V|8678|OBSCN|protein_coding|CODING|ENST00000570156|exon_1_228451817_228452092 1/1:99:255,69,0 0/1:99:255,0,246 . . 1 228451826 rs453140 C T NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|gCg/gTg|A188V|2757|OBSCN|protein_coding|CODING|ENST00000359599|exon_1_228451817_228452092 1/1:99:255,69,0 0/1:99:255,0,246 . . 1 228467711 rs3795783 G A NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|cGg/cAg|R1376Q|2757|OBSCN|protein_coding|CODING|ENST00000359599|exon_1_228467522_228467788 . . . 0/1:99:165,0,216 1 228467711 rs3795783 G A NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|cGg/cAg|R2529Q|6620|OBSCN|protein_coding|CODING|ENST00000284548|exon_1_228467522_228467788 . . . 0/1:99:165,0,216 1 228467711 rs3795783 G A NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|cGg/cAg|R2529Q|7968|OBSCN|protein_coding|CODING|ENST00000422127|exon_1_228467522_228467788 . . . 0/1:99:165,0,216 1 228467711 rs3795783 G A NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|cGg/cAg|R2713Q|8678|OBSCN|protein_coding|CODING|ENST00000570156|exon_1_228467522_228467788 . . . 0/1:99:165,0,216 1 228468458 rs1188697 G A NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|Gtg/Atg|V1567M|2757|OBSCN|protein_coding|CODING|ENST00000359599|exon_1_228468231_228468497 1/1:99:255,84,0 0/1:99:176,0,207 . . 1 228468458 rs1188697 G A NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|Gtg/Atg|V2720M|6620|OBSCN|protein_coding|CODING|ENST00000284548|exon_1_228468231_228468497 1/1:99:255,84,0 0/1:99:176,0,207 . . 1 228468458 rs1188697 G A NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|Gtg/Atg|V2720M|7968|OBSCN|protein_coding|CODING|ENST00000422127|exon_1_228468231_228468497 1/1:99:255,84,0 0/1:99:176,0,207 . . 1 228468458 rs1188697 G A NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|Gtg/Atg|V2904M|8678|OBSCN|protein_coding|CODING|ENST00000570156|exon_1_228468231_228468497 1/1:99:255,84,0 0/1:99:176,0,207 . . 1 228469870 rs3795785 C T NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|Cgg/Tgg|R1659W|2757|OBSCN|protein_coding|CODING|ENST00000359599|exon_1_228469634_228469906 . . . 0/1:99:180,0,226 1 228469870 rs3795785 C T NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|Cgg/Tgg|R2812W|6620|OBSCN|protein_coding|CODING|ENST00000284548|exon_1_228469634_228469906 . . . 0/1:99:180,0,226 1 228469870 rs3795785 C T NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|Cgg/Tgg|R2812W|7968|OBSCN|protein_coding|CODING|ENST00000422127|exon_1_228469634_228469906 . . . 0/1:99:180,0,226 1 228469870 rs3795785 C T NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|Cgg/Tgg|R2996W|8678|OBSCN|protein_coding|CODING|ENST00000570156|exon_1_228469634_228469906 . . . 0/1:99:180,0,226 1 228474494 . C T NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|Cgg/Tgg|R1947W|2757|OBSCN|protein_coding|CODING|ENST00000359599|exon_1_228474474_228474740 . . . 0/1:99:206,0,255 1 228474494 . C T NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|Cgg/Tgg|R219W|3739|OBSCN|protein_coding|CODING|ENST00000366709|exon_1_228474474_228474740 . . . 0/1:99:206,0,255 1 228474494 . C T NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|Cgg/Tgg|R219W|5602|OBSCN|protein_coding|CODING|ENST00000366707|exon_1_228474474_228474740 . . . 0/1:99:206,0,255 1 228474494 . C T NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|Cgg/Tgg|R3100W|6620|OBSCN|protein_coding|CODING|ENST00000284548|exon_1_228474474_228474740 . . . 0/1:99:206,0,255 1 228474494 . C T NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|Cgg/Tgg|R3100W|7968|OBSCN|protein_coding|CODING|ENST00000422127|exon_1_228474474_228474740 . . . 0/1:99:206,0,255 1 228474494 . C T NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|Cgg/Tgg|R3284W|8678|OBSCN|protein_coding|CODING|ENST00000570156|exon_1_228474474_228474740 . . . 0/1:99:206,0,255 1 228475625 . G A NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|Ggg/Agg|G2106R|2757|OBSCN|protein_coding|CODING|ENST00000359599|exon_1_228475395_228475661 . . 0/1:99:255,0,177 . 1 228475625 . G A NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|Ggg/Agg|G3259R|6620|OBSCN|protein_coding|CODING|ENST00000284548|exon_1_228475395_228475661 . . 0/1:99:255,0,177 . 1 228475625 . G A NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|Ggg/Agg|G3259R|7968|OBSCN|protein_coding|CODING|ENST00000422127|exon_1_228475395_228475661 . . 0/1:99:255,0,177 . 1 228475625 . G A NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|Ggg/Agg|G3443R|8678|OBSCN|protein_coding|CODING|ENST00000570156|exon_1_228475395_228475661 . . 0/1:99:255,0,177 . 1 228475625 . G A NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|Ggg/Agg|G378R|3739|OBSCN|protein_coding|CODING|ENST00000366709|exon_1_228475395_228475661 . . 0/1:99:255,0,177 . 1 228475625 . G A NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|Ggg/Agg|G378R|5602|OBSCN|protein_coding|CODING|ENST00000366707|exon_1_228475395_228475661 . . 0/1:99:255,0,177 . 1 228475848 rs437129 G A NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|Gca/Aca|A2147T|2757|OBSCN|protein_coding|CODING|ENST00000359599|exon_1_228475762_228476025 1/1:99:255,69,0 0/1:99:113,0,255 . . 1 228475848 rs437129 G A NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|Gca/Aca|A3300T|6620|OBSCN|protein_coding|CODING|ENST00000284548|exon_1_228475762_228476025 1/1:99:255,69,0 0/1:99:113,0,255 . . 1 228475848 rs437129 G A NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|Gca/Aca|A3300T|7968|OBSCN|protein_coding|CODING|ENST00000422127|exon_1_228475762_228476025 1/1:99:255,69,0 0/1:99:113,0,255 . . 1 228475848 rs437129 G A NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|Gca/Aca|A3484T|8678|OBSCN|protein_coding|CODING|ENST00000570156|exon_1_228475762_228476025 1/1:99:255,69,0 0/1:99:113,0,255 . . 1 228475848 rs437129 G A NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|Gca/Aca|A419T|3739|OBSCN|protein_coding|CODING|ENST00000366709|exon_1_228475762_228476025 1/1:99:255,69,0 0/1:99:113,0,255 . . 1 228475848 rs437129 G A NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|Gca/Aca|A419T|5602|OBSCN|protein_coding|CODING|ENST00000366707|exon_1_228475762_228476025 1/1:99:255,69,0 0/1:99:113,0,255 . . 1 228476366 rs3795789 G T NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|gaG/gaT|E2219D|2757|OBSCN|protein_coding|CODING|ENST00000359599|exon_1_228476326_228476589 . . . 0/1:88:85,0,223 1 228476366 rs3795789 G T NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|gaG/gaT|E3372D|6620|OBSCN|protein_coding|CODING|ENST00000284548|exon_1_228476326_228476589 . . . 0/1:88:85,0,223 1 228476366 rs3795789 G T NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|gaG/gaT|E3372D|7968|OBSCN|protein_coding|CODING|ENST00000422127|exon_1_228476326_228476589 . . . 0/1:88:85,0,223 1 228476366 rs3795789 G T NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|gaG/gaT|E3556D|8678|OBSCN|protein_coding|CODING|ENST00000570156|exon_1_228476326_228476589 . . . 0/1:88:85,0,223 1 228476366 rs3795789 G T NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|gaG/gaT|E491D|3739|OBSCN|protein_coding|CODING|ENST00000366709|exon_1_228476326_228476589 . . . 0/1:88:85,0,223 1 228476366 rs3795789 G T NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|gaG/gaT|E491D|5602|OBSCN|protein_coding|CODING|ENST00000366707|exon_1_228476326_228476589 . . . 0/1:88:85,0,223 1 228476367 rs3795790 A T NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|Agc/Tgc|S2220C|2757|OBSCN|protein_coding|CODING|ENST00000359599|exon_1_228476326_228476589 . . . 0/1:67:64,0,215 1 228476367 rs3795790 A T NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|Agc/Tgc|S3373C|6620|OBSCN|protein_coding|CODING|ENST00000284548|exon_1_228476326_228476589 . . . 0/1:67:64,0,215 1 228476367 rs3795790 A T NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|Agc/Tgc|S3373C|7968|OBSCN|protein_coding|CODING|ENST00000422127|exon_1_228476326_228476589 . . . 0/1:67:64,0,215 1 228476367 rs3795790 A T NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|Agc/Tgc|S3557C|8678|OBSCN|protein_coding|CODING|ENST00000570156|exon_1_228476326_228476589 . . . 0/1:67:64,0,215 1 228476367 rs3795790 A T NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|Agc/Tgc|S492C|3739|OBSCN|protein_coding|CODING|ENST00000366709|exon_1_228476326_228476589 . . . 0/1:67:64,0,215 1 228476367 rs3795790 A T NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|Agc/Tgc|S492C|5602|OBSCN|protein_coding|CODING|ENST00000366707|exon_1_228476326_228476589 . . . 0/1:67:64,0,215 1 228492220 rs41270183 C T NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|tCg/tTg|S1430L|5602|OBSCN|protein_coding|CODING|ENST00000366707|exon_1_228492004_228492267 . . . 0/1:99:121,0,218 1 228492220 rs41270183 C T NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|tCg/tTg|S4495L|8678|OBSCN|protein_coding|CODING|ENST00000570156|exon_1_228492004_228492267 . . . 0/1:99:121,0,218 1 228496066 rs55704206 G T NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|Gcc/Tcc|A1360S|3739|OBSCN|protein_coding|CODING|ENST00000366709|exon_1_228495812_228496084 . . 0/1:99:210,0,255 . 1 228496066 rs55704206 G T NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|Gcc/Tcc|A1875S|5602|OBSCN|protein_coding|CODING|ENST00000366707|exon_1_228495812_228496084 . . 0/1:99:210,0,255 . 1 228496066 rs55704206 G T NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|Gcc/Tcc|A4241S|6620|OBSCN|protein_coding|CODING|ENST00000284548|exon_1_228495812_228496084 . . 0/1:99:210,0,255 . 1 228496066 rs55704206 G T NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|Gcc/Tcc|A4241S|7968|OBSCN|protein_coding|CODING|ENST00000422127|exon_1_228495812_228496084 . . 0/1:99:210,0,255 . 1 228496066 rs55704206 G T NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|Gcc/Tcc|A4953S|8678|OBSCN|protein_coding|CODING|ENST00000570156|exon_1_228495812_228496084 . . 0/1:99:210,0,255 . 1 228503722 . G A NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|cGc/cAc|R1515H|3739|OBSCN|protein_coding|CODING|ENST00000366709|exon_1_228503548_228503820 . . . 0/1:99:166,0,183 1 228503722 . G A NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|cGc/cAc|R2030H|5602|OBSCN|protein_coding|CODING|ENST00000366707|exon_1_228503548_228503820 . . . 0/1:99:166,0,183 1 228503722 . G A NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|cGc/cAc|R4396H|6620|OBSCN|protein_coding|CODING|ENST00000284548|exon_1_228503548_228503820 . . . 0/1:99:166,0,183 1 228503722 . G A NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|cGc/cAc|R4396H|7968|OBSCN|protein_coding|CODING|ENST00000422127|exon_1_228503548_228503820 . . . 0/1:99:166,0,183 1 228503722 . G A NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|cGc/cAc|R5108H|8678|OBSCN|protein_coding|CODING|ENST00000570156|exon_1_228503548_228503820 . . . 0/1:99:166,0,183 1 228505727 rs3795800 C T NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|Cgc/Tgc|R1781C|3739|OBSCN|protein_coding|CODING|ENST00000366709|exon_1_228505593_228505874 . . . 0/1:99:133,0,204 1 228505727 rs3795800 C T NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|Cgc/Tgc|R2296C|5602|OBSCN|protein_coding|CODING|ENST00000366707|exon_1_228505593_228505874 . . . 0/1:99:133,0,204 1 228505727 rs3795800 C T NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|Cgc/Tgc|R4662C|6620|OBSCN|protein_coding|CODING|ENST00000284548|exon_1_228505593_228505874 . . . 0/1:99:133,0,204 1 228505727 rs3795800 C T NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|Cgc/Tgc|R4662C|7968|OBSCN|protein_coding|CODING|ENST00000422127|exon_1_228505593_228505874 . . . 0/1:99:133,0,204 1 228505727 rs3795800 C T NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|Cgc/Tgc|R5374C|8678|OBSCN|protein_coding|CODING|ENST00000570156|exon_1_228505593_228505874 . . . 0/1:99:133,0,204 1 228525008 rs3795809 G A NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|cGc/cAc|R2694H|3739|OBSCN|protein_coding|CODING|ENST00000366709|exon_1_228524945_228525084 . . 0/1:99:162,0,255 . 1 228525008 rs3795809 G A NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|cGc/cAc|R3209H|5602|OBSCN|protein_coding|CODING|ENST00000366707|exon_1_228524945_228525084 . . 0/1:99:162,0,255 . 1 228525008 rs3795809 G A NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|cGc/cAc|R5575H|6620|OBSCN|protein_coding|CODING|ENST00000284548|exon_1_228524945_228525084 . . 0/1:99:162,0,255 . 1 228525008 rs3795809 G A NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|cGc/cAc|R5575H|7968|OBSCN|protein_coding|CODING|ENST00000422127|exon_1_228524945_228525084 . . 0/1:99:162,0,255 . 1 228525008 rs3795809 G A NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|cGc/cAc|R6287H|8678|OBSCN|protein_coding|CODING|ENST00000570156|exon_1_228524945_228525084 . . 0/1:99:162,0,255 . 1 228548197 rs10158354 G A NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|cGt/cAt|R3654H|3739|OBSCN|protein_coding|CODING|ENST00000366709|exon_1_228547298_228548456 0/1:99:255,0,118 . . 0/1:99:227,0,212 1 228548197 rs10158354 G A NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|cGt/cAt|R6535H|6620|OBSCN|protein_coding|CODING|ENST00000284548|exon_1_228547298_228548951 0/1:99:255,0,118 . . 0/1:99:227,0,212 1 228550426 rs35155240 C T NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|Ccc/Tcc|P3905S|5602|OBSCN|protein_coding|CODING|ENST00000366707|exon_1_228550277_228550456 0/1:99:210,0,158 . . 0/1:82:185,0,79 1 228550426 rs35155240 C T NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|Ccc/Tcc|P6271S|7968|OBSCN|protein_coding|CODING|ENST00000422127|exon_1_228550277_228550456 0/1:99:210,0,158 . . 0/1:82:185,0,79 1 228550426 rs35155240 C T NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|Ccc/Tcc|P6983S|8678|OBSCN|protein_coding|CODING|ENST00000570156|exon_1_228550277_228550456 0/1:99:210,0,158 . . 0/1:82:185,0,79 1 228557938 rs200648151 T C NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|cTg/cCg|L4356P|5602|OBSCN|protein_coding|CODING|ENST00000366707|exon_1_228557894_228557939 0/1:99:189,0,180 . . . 1 228557938 rs200648151 T C NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|cTg/cCg|L6722P|7968|OBSCN|protein_coding|CODING|ENST00000422127|exon_1_228557894_228557939 0/1:99:189,0,180 . . . 1 228557938 rs200648151 T C NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|cTg/cCg|L7434P|8678|OBSCN|protein_coding|CODING|ENST00000570156|exon_1_228557894_228557939 0/1:99:189,0,180 . . . 1 228558808 . G A NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|Ggc/Agc|G4411S|5602|OBSCN|protein_coding|CODING|ENST00000366707|exon_1_228558724_228560782 . . . 0/1:65:62,0,151 1 228558808 . G A NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|Ggc/Agc|G6777S|7968|OBSCN|protein_coding|CODING|ENST00000422127|exon_1_228558724_228560782 . . . 0/1:65:62,0,151 1 228558808 . G A NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|Ggc/Agc|G7489S|8678|OBSCN|protein_coding|CODING|ENST00000570156|exon_1_228558724_228560782 . . . 0/1:65:62,0,151 1 228558892 rs35186354 C T NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|Cgg/Tgg|R4439W|5602|OBSCN|protein_coding|CODING|ENST00000366707|exon_1_228558724_228560782 0/1:99:136,0,230 . . . 1 228558892 rs35186354 C T NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|Cgg/Tgg|R6805W|7968|OBSCN|protein_coding|CODING|ENST00000422127|exon_1_228558724_228560782 0/1:99:136,0,230 . . . 1 228558892 rs35186354 C T NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|Cgg/Tgg|R7517W|8678|OBSCN|protein_coding|CODING|ENST00000570156|exon_1_228558724_228560782 0/1:99:136,0,230 . . . 1 228564884 rs56174824 G A NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|cGc/cAc|R5358H|5602|OBSCN|protein_coding|CODING|ENST00000366707|exon_1_228564753_228564992 0/1:99:234,0,145 . . 0/1:99:210,0,183 1 228564884 rs56174824 G A NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|cGc/cAc|R7724H|7968|OBSCN|protein_coding|CODING|ENST00000422127|exon_1_228564753_228564992 0/1:99:234,0,145 . . 0/1:99:210,0,183 1 228564884 rs56174824 G A NON_SYNONYMOUS_CODING OBSCN MODERATE|MISSENSE|cGc/cAc|R8436H|8678|OBSCN|protein_coding|CODING|ENST00000570156|exon_1_228564753_228564992 0/1:99:234,0,145 . . 0/1:99:210,0,183 1 229738193 rs55655740 C T NON_SYNONYMOUS_CODING TAF5L MODERATE|MISSENSE|Gtc/Atc|V241I|325|TAF5L|protein_coding|CODING|ENST00000366675|exon_1_229734941_229738666 . . . 0/1:99:173,0,216 1 229738193 rs55655740 C T NON_SYNONYMOUS_CODING TAF5L MODERATE|MISSENSE|Gtc/Atc|V241I|589|TAF5L|protein_coding|CODING|ENST00000258281|exon_1_229737942_229738666 . . . 0/1:99:173,0,216 1 229738193 rs55655740 C T NON_SYNONYMOUS_CODING TAF5L MODERATE|MISSENSE|Gtc/Atc|V241I|589|TAF5L|protein_coding|CODING|ENST00000366676|exon_1_229737942_229738666 . . . 0/1:99:173,0,216 1 230498061 rs2009265 C T NON_SYNONYMOUS_CODING PGBD5 MODERATE|MISSENSE|Gtg/Atg|V127M|554|PGBD5|protein_coding|CODING|ENST00000321327|exon_1_230498019_230498123 . 0/1:99:162,0,239 . . 1 230498094 rs74143198 A C NON_SYNONYMOUS_CODING PGBD5 MODERATE|MISSENSE|Tcg/Gcg|S116A|554|PGBD5|protein_coding|CODING|ENST00000321327|exon_1_230498019_230498123 . 0/1:99:158,0,148 . . 1 230814668 rs11558606 A G NON_SYNONYMOUS_CODING COG2 MODERATE|MISSENSE|Ata/Gta|I230V|622|COG2|protein_coding|CODING|ENST00000535166|exon_1_230814659_230814798 0/1:99:234,0,255 . . . 1 230814668 rs11558606 A G NON_SYNONYMOUS_CODING COG2 MODERATE|MISSENSE|Ata/Gta|I287V|679|COG2|protein_coding|CODING|ENST00000534989|exon_1_230814659_230814798 0/1:99:234,0,255 . . . 1 230814668 rs11558606 A G NON_SYNONYMOUS_CODING COG2 MODERATE|MISSENSE|Ata/Gta|I346V|737|COG2|protein_coding|CODING|ENST00000366668|exon_1_230814659_230814798 0/1:99:234,0,255 . . . 1 230814668 rs11558606 A G NON_SYNONYMOUS_CODING COG2 MODERATE|MISSENSE|Ata/Gta|I346V|738|COG2|protein_coding|CODING|ENST00000366669|exon_1_230814659_230814798 0/1:99:234,0,255 . . . 1 230814668 rs11558606 A G NON_SYNONYMOUS_CODING COG2 MODERATE|MISSENSE|Ata/Gta|I35V|427|COG2|protein_coding|CODING|ENST00000546013|exon_1_230814659_230814798 0/1:99:234,0,255 . . . 1 231488541 rs78209580 G A NON_SYNONYMOUS_CODING C1orf124 MODERATE|MISSENSE|Gtg/Atg|V302M|489|C1orf124|protein_coding|CODING|ENST00000295050|exon_1_231488356_231490769 0/1:99:255,0,255 . . . 1 231910413 rs116365606 C T NON_SYNONYMOUS_CODING DISC1 MODERATE|MISSENSE|Cgt/Tgt|R555C|609|DISC1|protein_coding|CODING|ENST00000535944|exon_1_231910385_231910563 . . . 0/1:99:255,0,239 1 232539219 rs2275303 C T NON_SYNONYMOUS_CODING SIPA1L2 MODERATE|MISSENSE|Ggc/Agc|G1639S|1722|SIPA1L2|protein_coding|CODING|ENST00000262861|exon_1_232539194_232539317 0/1:99:136,0,249 . . . 1 232539219 rs2275303 C T NON_SYNONYMOUS_CODING SIPA1L2 MODERATE|MISSENSE|Ggc/Agc|G1639S|1722|SIPA1L2|protein_coding|CODING|ENST00000366630|exon_1_232539194_232539317 0/1:99:136,0,249 . . . 1 232539219 rs2275303 C T NON_SYNONYMOUS_CODING SIPA1L2 MODERATE|MISSENSE|Ggc/Agc|G695S|778|SIPA1L2|protein_coding|CODING|ENST00000308942|exon_1_232539194_232539317 0/1:99:136,0,249 . . . 1 232574921 rs2275307 T C NON_SYNONYMOUS_CODING SIPA1L2 MODERATE|MISSENSE|Acc/Gcc|T1322A|1722|SIPA1L2|protein_coding|CODING|ENST00000262861|exon_1_232574854_232575242 0/1:99:255,0,255 . . . 1 232574921 rs2275307 T C NON_SYNONYMOUS_CODING SIPA1L2 MODERATE|MISSENSE|Acc/Gcc|T1322A|1722|SIPA1L2|protein_coding|CODING|ENST00000366630|exon_1_232574854_232575242 0/1:99:255,0,255 . . . 1 232574921 rs2275307 T C NON_SYNONYMOUS_CODING SIPA1L2 MODERATE|MISSENSE|Acc/Gcc|T396A|778|SIPA1L2|protein_coding|CODING|ENST00000308942|exon_1_232574854_232575242 0/1:99:255,0,255 . . . 1 232940953 rs10797593 T C NON_SYNONYMOUS_CODING KIAA1383 MODERATE|MISSENSE|Tca/Cca|S62P|1047|KIAA1383|protein_coding|CODING|ENST00000418460|exon_1_232940643_232946092 . . 0/1:99:255,0,194 . 1 232941215 rs41271527 A G NON_SYNONYMOUS_CODING KIAA1383 MODERATE|MISSENSE|gAg/gGg|E149G|1047|KIAA1383|protein_coding|CODING|ENST00000418460|exon_1_232940643_232946092 . . 0/1:99:190,0,118 . 1 232941677 rs3766497 G T NON_SYNONYMOUS_CODING KIAA1383 MODERATE|MISSENSE|cGt/cTt|R303L|1047|KIAA1383|protein_coding|CODING|ENST00000418460|exon_1_232940643_232946092 . . 0/1:99:216,0,202 . 1 233313594 rs41307684 G T NON_SYNONYMOUS_CODING PCNXL2 MODERATE|MISSENSE|gCa/gAa|A1076E|2137|PCNXL2|protein_coding|CODING|ENST00000258229|exon_1_233313548_233313644 . 0/1:99:255,0,255 . . 1 233313594 rs41307684 G T NON_SYNONYMOUS_CODING PCNXL2 MODERATE|MISSENSE|gCa/gAa|A209E|424|PCNXL2|protein_coding|CODING|ENST00000488780|exon_1_233313548_233313644 . 0/1:99:255,0,255 . . 1 233353901 rs74503807 G A NON_SYNONYMOUS_CODING PCNXL2 MODERATE|MISSENSE|gCg/gTg|A144V|286|PCNXL2|protein_coding|CODING|ENST00000430153|exon_1_233353777_233353930 . 0/1:99:154,0,255 . . 1 233353901 rs74503807 G A NON_SYNONYMOUS_CODING PCNXL2 MODERATE|MISSENSE|gCg/gTg|A25V|180|PCNXL2|protein_coding|CODING|ENST00000518351|exon_1_233353777_233353930 . 0/1:99:154,0,255 . . 1 233353901 rs74503807 G A NON_SYNONYMOUS_CODING PCNXL2 MODERATE|MISSENSE|gCg/gTg|A845V|2137|PCNXL2|protein_coding|CODING|ENST00000258229|exon_1_233353777_233353930 . 0/1:99:154,0,255 . . 1 233463785 rs78916182 G C NON_SYNONYMOUS_CODING RP5-862P8.2.1 MODERATE|MISSENSE|cGg/cCg|R4P|1036|RP5-862P8.2.1|protein_coding|CODING|ENST00000366624|exon_1_233463514_233464579 . . . 0/1:99:166,0,111 1 233463785 rs78916182 G C NON_SYNONYMOUS_CODING RP5-862P8.2.1 MODERATE|MISSENSE|cGg/cCg|R4P|570|RP5-862P8.2.1|protein_coding|CODING|ENST00000366623|exon_1_233463514_233464579 . . . 0/1:99:166,0,111 1 233514934 rs3795375 G A NON_SYNONYMOUS_CODING RP5-862P8.2.1 MODERATE|MISSENSE|Gtc/Atc|V174I|482|RP5-862P8.2.1|protein_coding|CODING|ENST00000366622|exon_1_233514677_233515456 . . 0/1:99:233,0,255 . 1 233514934 rs3795375 G A NON_SYNONYMOUS_CODING RP5-862P8.2.1 MODERATE|MISSENSE|Gtc/Atc|V728I|1036|RP5-862P8.2.1|protein_coding|CODING|ENST00000366624|exon_1_233514677_233515456 . . 0/1:99:233,0,255 . 1 233514975 rs3795374 G T NON_SYNONYMOUS_CODING RP5-862P8.2.1 MODERATE|MISSENSE|gaG/gaT|E187D|482|RP5-862P8.2.1|protein_coding|CODING|ENST00000366622|exon_1_233514677_233515456 . . 0/1:99:215,0,255 . 1 233514975 rs3795374 G T NON_SYNONYMOUS_CODING RP5-862P8.2.1 MODERATE|MISSENSE|gaG/gaT|E741D|1036|RP5-862P8.2.1|protein_coding|CODING|ENST00000366624|exon_1_233514677_233515456 . . 0/1:99:215,0,255 . 1 233515102 rs963981 T G NON_SYNONYMOUS_CODING RP5-862P8.2.1 MODERATE|MISSENSE|Tgt/Ggt|C230G|482|RP5-862P8.2.1|protein_coding|CODING|ENST00000366622|exon_1_233514677_233515456 . . 0/1:99:229,0,255 . 1 233515102 rs963981 T G NON_SYNONYMOUS_CODING RP5-862P8.2.1 MODERATE|MISSENSE|Tgt/Ggt|C784G|1036|RP5-862P8.2.1|protein_coding|CODING|ENST00000366624|exon_1_233514677_233515456 . . 0/1:99:229,0,255 . 1 234603322 rs60079444 A T NON_SYNONYMOUS_CODING TARBP1 MODERATE|MISSENSE|Tcc/Acc|S392T|1621|TARBP1|protein_coding|CODING|ENST00000040877|exon_1_234603248_234603396 . 0/1:99:255,0,253 . . 1 234614698 rs941965 C T NON_SYNONYMOUS_CODING TARBP1 MODERATE|MISSENSE|aGc/aAc|S51N|1621|TARBP1|protein_coding|CODING|ENST00000040877|exon_1_234613919_234614849 . . 0/1:70:67,0,90 . 1 234744480 rs11502 G A NON_SYNONYMOUS_CODING IRF2BP2 MODERATE|MISSENSE|gCg/gTg|A254V|571|IRF2BP2|protein_coding|CODING|ENST00000366610|exon_1_234744241_234745271 . . 0/1:99:138,0,148 0/1:99:115,0,203 1 234744480 rs11502 G A NON_SYNONYMOUS_CODING IRF2BP2 MODERATE|MISSENSE|gCg/gTg|A254V|587|IRF2BP2|protein_coding|CODING|ENST00000366609|exon_1_234744193_234745271 . . 0/1:99:138,0,148 0/1:99:115,0,203 1 235894366 rs34702903 A C NON_SYNONYMOUS_CODING LYST MODERATE|MISSENSE|aaT/aaG|N2971K|3801|LYST|protein_coding|CODING|ENST00000389793|exon_1_235894332_235894477 . 0/1:99:214,0,255 . . 1 235894366 rs34702903 A C NON_SYNONYMOUS_CODING LYST MODERATE|MISSENSE|aaT/aaG|N2971K|3801|LYST|protein_coding|CODING|ENST00000389794|exon_1_235894332_235894477 . 0/1:99:214,0,255 . . 1 236180504 rs141204959 G T NON_SYNONYMOUS_CODING NID1 MODERATE|MISSENSE|aCc/aAc|T733N|1247|NID1|protein_coding|CODING|ENST00000264187|exon_1_236180448_236180573 . . 0/1:99:204,0,175 . 1 236721780 rs16833884 C T NON_SYNONYMOUS_CODING HEATR1 MODERATE|MISSENSE|cGt/cAt|R1573H|2063|HEATR1|protein_coding|CODING|ENST00000366581|exon_1_236721537_236721829 . . 0/1:99:255,0,255 . 1 236721780 rs16833884 C T NON_SYNONYMOUS_CODING HEATR1 MODERATE|MISSENSE|cGt/cAt|R1654H|2144|HEATR1|protein_coding|CODING|ENST00000366582|exon_1_236721537_236721829 . . 0/1:99:255,0,255 . 1 236740135 rs16833953 T C NON_SYNONYMOUS_CODING HEATR1 MODERATE|MISSENSE|gAt/gGt|D957G|2063|HEATR1|protein_coding|CODING|ENST00000366581|exon_1_236740080_236740249 . . . 0/1:99:221,0,244 1 236740135 rs16833953 T C NON_SYNONYMOUS_CODING HEATR1 MODERATE|MISSENSE|gAt/gGt|D957G|2144|HEATR1|protein_coding|CODING|ENST00000366582|exon_1_236740080_236740249 . . . 0/1:99:221,0,244 1 236749128 rs41308194 A C NON_SYNONYMOUS_CODING HEATR1 MODERATE|MISSENSE|Tta/Gta|L681V|2063|HEATR1|protein_coding|CODING|ENST00000366581|exon_1_236749120_236749241 . . 0/1:99:255,0,255 . 1 236749128 rs41308194 A C NON_SYNONYMOUS_CODING HEATR1 MODERATE|MISSENSE|Tta/Gta|L681V|2144|HEATR1|protein_coding|CODING|ENST00000366582|exon_1_236749120_236749241 . . 0/1:99:255,0,255 . 1 236990141 rs2229274 G A NON_SYNONYMOUS_CODING MTR MODERATE|MISSENSE|Gat/Aat|D314N|1118|MTR|protein_coding|CODING|ENST00000417743|exon_1_236990129_236990196 0/1:99:255,0,236 0/1:99:170,0,233 . . 1 236990141 rs2229274 G A NON_SYNONYMOUS_CODING MTR MODERATE|MISSENSE|Gat/Aat|D314N|1214|MTR|protein_coding|CODING|ENST00000535889|exon_1_236990129_236990196 0/1:99:255,0,236 0/1:99:170,0,233 . . 1 236990141 rs2229274 G A NON_SYNONYMOUS_CODING MTR MODERATE|MISSENSE|Gat/Aat|D314N|1265|MTR|protein_coding|CODING|ENST00000366577|exon_1_236990129_236990196 0/1:99:255,0,236 0/1:99:170,0,233 . . 1 237778084 rs3766871 G A NON_SYNONYMOUS_CODING RYR2 MODERATE|MISSENSE|Ggc/Agc|G1870S|4951|RYR2|protein_coding|CODING|ENST00000542537|exon_1_237777339_237778143 . 0/1:99:255,0,242 . . 1 237778084 rs3766871 G A NON_SYNONYMOUS_CODING RYR2 MODERATE|MISSENSE|Ggc/Agc|G1884S|4973|RYR2|protein_coding|CODING|ENST00000360064|exon_1_237777339_237778143 . 0/1:99:255,0,242 . . 1 237778084 rs3766871 G A NON_SYNONYMOUS_CODING RYR2 MODERATE|MISSENSE|Ggc/Agc|G1886S|4967|RYR2|protein_coding|CODING|ENST00000366574|exon_1_237777339_237778143 . 0/1:99:255,0,242 . . 1 240492734 rs3795677 G A NON_SYNONYMOUS_CODING FMN2 MODERATE|MISSENSE|cGt/cAt|R1468H|1722|FMN2|protein_coding|CODING|ENST00000319653|exon_1_240492639_240492768 . . . 0/1:99:255,0,251 1 240492734 rs3795677 G A NON_SYNONYMOUS_CODING FMN2 MODERATE|MISSENSE|cGt/cAt|R64H|318|FMN2|protein_coding|CODING|ENST00000545751|exon_1_240492639_240492768 . . . 0/1:99:255,0,251 1 240492734 rs3795677 G A NON_SYNONYMOUS_CODING FMN2 MODERATE|MISSENSE|cGt/cAt|R95H|348|FMN2|protein_coding|CODING|ENST00000537355|exon_1_240492639_240492768 . . . 0/1:99:255,0,251 1 241823930 rs77229246 A G NON_SYNONYMOUS_CODING WDR64 MODERATE|MISSENSE|Aac/Gac|N82D|1081|WDR64|protein_coding|CODING|ENST00000366552|exon_1_241823832_241823962 . 0/1:99:246,0,255 . . 1 241823930 rs77229246 A G NON_SYNONYMOUS_CODING WDR64 MODERATE|MISSENSE|Aac/Gac|N82D|914|WDR64|protein_coding|CODING|ENST00000437684|exon_1_241823832_241823962 . 0/1:99:246,0,255 . . 1 243329211 rs200480235 G T NON_SYNONYMOUS_CODING CEP170 MODERATE|MISSENSE|aCa/aAa|T586K|1460|CEP170|protein_coding|CODING|ENST00000366543|exon_1_243327586_243329418 0/1:62:59,0,255 . . . 1 243329211 rs200480235 G T NON_SYNONYMOUS_CODING CEP170 MODERATE|MISSENSE|aCa/aAa|T586K|1486|CEP170|protein_coding|CODING|ENST00000366544|exon_1_243327586_243329418 0/1:62:59,0,255 . . . 1 243329211 rs200480235 G T NON_SYNONYMOUS_CODING CEP170 MODERATE|MISSENSE|aCa/aAa|T684K|1584|CEP170|protein_coding|CODING|ENST00000366542|exon_1_243327586_243329418 0/1:62:59,0,255 . . . 1 244641216 rs11586356 C A NON_SYNONYMOUS_CODING C1orf101 MODERATE|MISSENSE|aCg/aAg|T56K|871|C1orf101|protein_coding|CODING|ENST00000428042|exon_1_244641208_244641277 . . . 0/1:99:255,0,255 1 244641216 rs11586356 C A NON_SYNONYMOUS_CODING C1orf101 MODERATE|MISSENSE|aCg/aAg|T66K|831|C1orf101|protein_coding|CODING|ENST00000391841|exon_1_244641208_244641277 . . . 0/1:99:255,0,255 1 244641216 rs11586356 C A NON_SYNONYMOUS_CODING C1orf101 MODERATE|MISSENSE|aCg/aAg|T66K|832|C1orf101|protein_coding|CODING|ENST00000366533|exon_1_244641208_244641277 . . . 0/1:99:255,0,255 1 244641216 rs11586356 C A NON_SYNONYMOUS_CODING C1orf101 MODERATE|MISSENSE|aCg/aAg|T66K|951|C1orf101|protein_coding|CODING|ENST00000366534|exon_1_244641208_244641277 . . . 0/1:99:255,0,255 1 245005295 . G A NON_SYNONYMOUS_CODING FAM36A MODERATE|MISSENSE|cGg/cAg|R31Q|118|FAM36A|protein_coding|CODING|ENST00000411948|exon_1_245005246_245005360 . . 0/1:99:255,0,255 . 1 245005295 . G A NON_SYNONYMOUS_CODING FAM36A MODERATE|MISSENSE|cGg/cAg|R43Q|130|FAM36A|protein_coding|CODING|ENST00000366528|exon_1_245005246_245005360 . . 0/1:99:255,0,255 . 1 245704130 rs61754898 G C NON_SYNONYMOUS_CODING KIF26B MODERATE|MISSENSE|Gct/Cct|A26P|1724|KIF26B|protein_coding|CODING|ENST00000413001|exon_1_245704069_245704252 . . 0/1:99:243,0,255 0/1:99:255,0,255 1 245704130 rs61754898 G C NON_SYNONYMOUS_CODING KIF26B MODERATE|MISSENSE|Gct/Cct|A29P|1727|KIF26B|protein_coding|CODING|ENST00000366518|exon_1_245704069_245704252 . . 0/1:99:243,0,255 0/1:99:255,0,255 1 245704130 rs61754898 G C NON_SYNONYMOUS_CODING KIF26B MODERATE|MISSENSE|Gct/Cct|A410P|2108|KIF26B|protein_coding|CODING|ENST00000407071|exon_1_245704069_245704252 . . 0/1:99:243,0,255 0/1:99:255,0,255 1 246939986 rs145023937 C T NON_SYNONYMOUS_CODING RP11-439E19.8.1 MODERATE|MISSENSE|Gca/Aca|A214T|268|RP11-439E19.8.1|protein_coding|CODING|ENST00000451123|exon_1_246939842_246939986 . . 0/1:99:255,0,255 . 1 247006051 rs12410563 G C NON_SYNONYMOUS_CODING AHCTF1 MODERATE|MISSENSE|Ctg/Gtg|L2185V|2266|AHCTF1|protein_coding|CODING|ENST00000391829|exon_1_247005996_247006078 . 0/1:99:236,0,255 . . 1 247006051 rs12410563 G C NON_SYNONYMOUS_CODING AHCTF1 MODERATE|MISSENSE|Ctg/Gtg|L2194V|2275|AHCTF1|protein_coding|CODING|ENST00000326225|exon_1_247005996_247006078 . 0/1:99:236,0,255 . . 1 247006051 rs12410563 G C NON_SYNONYMOUS_CODING AHCTF1 MODERATE|MISSENSE|Ctg/Gtg|L2220V|2301|AHCTF1|protein_coding|CODING|ENST00000366508|exon_1_247005996_247006078 . 0/1:99:236,0,255 . . 1 247012943 rs146913959 G A NON_SYNONYMOUS_CODING AHCTF1 MODERATE|MISSENSE|gCg/gTg|A2122V|2266|AHCTF1|protein_coding|CODING|ENST00000391829|exon_1_247012917_247014744 0/1:99:161,0,255 . . . 1 247012943 rs146913959 G A NON_SYNONYMOUS_CODING AHCTF1 MODERATE|MISSENSE|gCg/gTg|A2131V|2275|AHCTF1|protein_coding|CODING|ENST00000326225|exon_1_247012917_247014744 0/1:99:161,0,255 . . . 1 247012943 rs146913959 G A NON_SYNONYMOUS_CODING AHCTF1 MODERATE|MISSENSE|gCg/gTg|A2157V|2301|AHCTF1|protein_coding|CODING|ENST00000366508|exon_1_247012917_247014744 0/1:99:161,0,255 . . . 1 247048834 rs2642990 T C NON_SYNONYMOUS_CODING AHCTF1 MODERATE|MISSENSE|aAc/aGc|N874S|2266|AHCTF1|protein_coding|CODING|ENST00000391829|exon_1_247048795_247048982 0/1:99:255,0,236 0/1:99:235,0,255 0/1:99:255,0,252 1/1:99:255,117,0 1 247048834 rs2642990 T C NON_SYNONYMOUS_CODING AHCTF1 MODERATE|MISSENSE|aAc/aGc|N883S|2275|AHCTF1|protein_coding|CODING|ENST00000326225|exon_1_247048795_247048982 0/1:99:255,0,236 0/1:99:235,0,255 0/1:99:255,0,252 1/1:99:255,117,0 1 247048834 rs2642990 T C NON_SYNONYMOUS_CODING AHCTF1 MODERATE|MISSENSE|aAc/aGc|N909S|2301|AHCTF1|protein_coding|CODING|ENST00000366508|exon_1_247048795_247048982 0/1:99:255,0,236 0/1:99:235,0,255 0/1:99:255,0,252 1/1:99:255,117,0 1 247751731 rs12737801 C G NON_SYNONYMOUS_CODING OR2G2 MODERATE|MISSENSE|Cct/Gct|P24A|317|OR2G2|protein_coding|CODING|ENST00000320065|exon_1_247751662_247752615 0/1:99:255,0,244 . . 0/1:99:255,0,255 1 247769062 rs61748963 A G NON_SYNONYMOUS_CODING OR2G3 MODERATE|MISSENSE|Atg/Gtg|M59V|309|OR2G3|protein_coding|CODING|ENST00000320002|exon_1_247768856_247769838 0/1:99:255,0,255 . . 0/1:99:255,0,243 1 247769768 rs141464415 A T NON_SYNONYMOUS_CODING OR2G3 MODERATE|MISSENSE|aAc/aTc|N294I|309|OR2G3|protein_coding|CODING|ENST00000320002|exon_1_247768856_247769838 0/1:99:244,0,244 . . . 1 247835779 rs56096718 C G NON_SYNONYMOUS_CODING OR13G1 MODERATE|MISSENSE|Gta/Cta|V189L|307|OR13G1|protein_coding|CODING|ENST00000359688|exon_1_247835320_247836365 0/1:99:255,0,255 . . 0/1:99:255,0,200 1 247875415 rs2282316 A G NON_SYNONYMOUS_CODING OR6F1 MODERATE|MISSENSE|Ttt/Ctt|F215L|308|OR6F1|protein_coding|CODING|ENST00000302084|exon_1_247875045_247876105 1/1:99:255,96,0 0/1:99:255,0,186 . 0/1:99:224,0,219 1 247875583 rs6665599 G C NON_SYNONYMOUS_CODING OR6F1 MODERATE|MISSENSE|Ccc/Gcc|P159A|308|OR6F1|protein_coding|CODING|ENST00000302084|exon_1_247875045_247876105 . 0/1:99:195,0,242 . . 1 247875975 rs61730470 A G NON_SYNONYMOUS_CODING OR6F1 MODERATE|MISSENSE|tTt/tCt|F28S|308|OR6F1|protein_coding|CODING|ENST00000302084|exon_1_247875045_247876105 . 0/1:99:255,0,255 . . 1 247886493 rs62619787 G A NON_SYNONYMOUS_CODING OR14A2 MODERATE|MISSENSE|Cct/Tct|P285S|314|OR14A2|protein_coding|CODING|ENST00000366485|exon_1_247886401_247887345 . 0/1:99:232,0,255 . . 1 247886615 rs11809582 G A NON_SYNONYMOUS_CODING OR14A2 MODERATE|MISSENSE|aCt/aTt|T244I|314|OR14A2|protein_coding|CODING|ENST00000366485|exon_1_247886401_247887345 . 0/1:99:255,0,255 . . 1 247886648 rs142212925 G A NON_SYNONYMOUS_CODING OR14A2 MODERATE|MISSENSE|tCc/tTc|S233F|314|OR14A2|protein_coding|CODING|ENST00000366485|exon_1_247886401_247887345 0/1:99:165,0,255 . . 0/1:99:251,0,255 1 248039294 rs1339847 G A NON_SYNONYMOUS_CODING TRIM58 MODERATE|MISSENSE|Gtc/Atc|V322I|486|TRIM58|protein_coding|CODING|ENST00000366481|exon_1_248039202_248041507 0/1:99:169,0,255 0/1:99:255,0,240 . . 1 248059352 . ACTCCT ACT CODON_CHANGE_PLUS_CODON_DELETION OR2W3 MODERATE||tccttg/ttg|SL156L|314|OR2W3|protein_coding|CODING|ENST00000360358|exon_1_248058889_248059833 0/1:99:255,0,255 . . . 1 248059352 . ACTCCT ACT CODON_CHANGE_PLUS_CODON_DELETION OR2W3 MODERATE||tccttg/ttg|SL156L|314|OR2W3|protein_coding|CODING|ENST00000537741|exon_1_248058859_248060449 0/1:99:255,0,255 . . . 1 248112763 rs4925790 G A NON_SYNONYMOUS_CODING OR2L8 MODERATE|MISSENSE|Gcc/Acc|A202T|312|OR2L8|protein_coding|CODING|ENST00000357191|exon_1_248112160_248113098 . 1/1:38:58,21,0 1/1:21:68,12,0 . 1 248202344 rs6658141 G C NON_SYNONYMOUS_CODING OR2L2 MODERATE|MISSENSE|Gta/Cta|V259L|312|OR2L2|protein_coding|CODING|ENST00000366479|exon_1_248201474_248202607 0/1:99:203,0,175 . . . 1 248436809 rs61832700 G A NON_SYNONYMOUS_CODING OR2T33 MODERATE|MISSENSE|cCc/cTc|P103L|320|OR2T33|protein_coding|CODING|ENST00000318021|exon_1_248436073_248437138 . . . 0/1:69:66,0,199 1 248436857 rs137984104 C T NON_SYNONYMOUS_CODING OR2T33 MODERATE|MISSENSE|aGt/aAt|S87N|320|OR2T33|protein_coding|CODING|ENST00000318021|exon_1_248436073_248437138 0/1:74:71,0,108 . . . 1 248525135 rs76721536 G A NON_SYNONYMOUS_CODING OR2T4 MODERATE|MISSENSE|Gcc/Acc|A85T|348|OR2T4|protein_coding|CODING|ENST00000366475|exon_1_248524883_248525929 0/1:63:60,0,255 . . 0/1:63:60,0,255 1 248525138 rs75096121 C T NON_SYNONYMOUS_CODING OR2T4 MODERATE|MISSENSE|Cac/Tac|H86Y|348|OR2T4|protein_coding|CODING|ENST00000366475|exon_1_248524883_248525929 0/1:65:62,0,255 . . 0/1:71:68,0,255 1 248756994 rs28405936 G A NON_SYNONYMOUS_CODING OR2T10 MODERATE|MISSENSE|Cgc/Tgc|R26C|312|OR2T10|protein_coding|CODING|ENST00000330500|exon_1_248756052_248757100 0/1:99:255,0,255 . . . 1 248813785 rs200036975 A T NON_SYNONYMOUS_CODING OR2T27 MODERATE|MISSENSE|gTc/gAc|V134D|317|OR2T27|protein_coding|CODING|ENST00000344889|exon_1_248813232_248814185 . 0/1:88:85,0,240 . 0/1:74:71,0,159 1 248844959 rs55871516 T C NON_SYNONYMOUS_CODING OR14I1 MODERATE|MISSENSE|tAt/tGt|Y216C|311|OR14I1|protein_coding|CODING|ENST00000342623|exon_1_248844628_248845629 . . . 0/1:99:255,0,242 1 248845356 rs41311583 G T NON_SYNONYMOUS_CODING OR14I1 MODERATE|MISSENSE|Ctg/Atg|L84M|311|OR14I1|protein_coding|CODING|ENST00000342623|exon_1_248844628_248845629 . . . 0/1:99:254,0,253 1 249152442 rs199731891 G C NON_SYNONYMOUS_CODING ZNF692 MODERATE|MISSENSE|Cgc/Ggc|R23G|131|ZNF692|protein_coding|CODING|ENST00000496231|exon_1_249152330_249152618 . . 0/1:99:227,0,180 . 1 249152442 rs199731891 G C NON_SYNONYMOUS_CODING ZNF692 MODERATE|MISSENSE|Cgc/Ggc|R23G|347|ZNF692|protein_coding|CODING|ENST00000366470|exon_1_249152330_249152520 . . 0/1:99:227,0,180 . 1 249152442 rs199731891 G C NON_SYNONYMOUS_CODING ZNF692 MODERATE|MISSENSE|Cgc/Ggc|R23G|474|ZNF692|protein_coding|CODING|ENST00000366471|exon_1_249152330_249152520 . . 0/1:99:227,0,180 . 1 249152442 rs199731891 G C NON_SYNONYMOUS_CODING ZNF692 MODERATE|MISSENSE|Cgc/Ggc|R23G|474|ZNF692|protein_coding|CODING|ENST00000427146|exon_1_249152330_249152520 . . 0/1:99:227,0,180 . 1 249152442 rs199731891 G C NON_SYNONYMOUS_CODING ZNF692 MODERATE|MISSENSE|Cgc/Ggc|R23G|518|ZNF692|protein_coding|CODING|ENST00000366469|exon_1_249152330_249152520 . . 0/1:99:227,0,180 . 1 249152442 rs199731891 G C NON_SYNONYMOUS_CODING ZNF692 MODERATE|MISSENSE|Cgc/Ggc|R23G|519|ZNF692|protein_coding|CODING|ENST00000306601|exon_1_249152330_249152520 . . 0/1:99:227,0,180 . 1 249152442 rs199731891 G C NON_SYNONYMOUS_CODING ZNF692 MODERATE|MISSENSE|Cgc/Ggc|R23G|96|ZNF692|protein_coding|CODING|ENST00000391820|exon_1_249152330_249152520 . . 0/1:99:227,0,180 . 1 249152442 rs199731891 G C NON_SYNONYMOUS_CODING ZNF692 MODERATE|MISSENSE|Cgc/Ggc|R28G|524|ZNF692|protein_coding|CODING|ENST00000451251|exon_1_249152330_249152520 . . 0/1:99:227,0,180 . 20 330408 rs11556643 C G NON_SYNONYMOUS_CODING NRSN2 MODERATE|MISSENSE|Ctc/Gtc|L41V|204|NRSN2|protein_coding|CODING|ENST00000382285|exon_20_330282_330476 . 0/1:99:255,0,202 . . 20 330408 rs11556643 C G NON_SYNONYMOUS_CODING NRSN2 MODERATE|MISSENSE|Ctc/Gtc|L41V|204|NRSN2|protein_coding|CODING|ENST00000382291|exon_20_330282_330476 . 0/1:99:255,0,202 . . 20 372055 rs199753662 G A NON_SYNONYMOUS_CODING TRIB3 MODERATE|MISSENSE|cGg/cAg|R139Q|270|TRIB3|protein_coding|CODING|ENST00000449710|exon_20_371931_372223 0/1:99:157,0,241 . . . 20 372055 rs199753662 G A NON_SYNONYMOUS_CODING TRIB3 MODERATE|MISSENSE|cGg/cAg|R139Q|358|TRIB3|protein_coding|CODING|ENST00000217233|exon_20_371931_372223 0/1:99:157,0,241 . . . 20 372055 rs199753662 G A NON_SYNONYMOUS_CODING TRIB3 MODERATE|MISSENSE|cGg/cAg|R166Q|385|TRIB3|protein_coding|CODING|ENST00000422053|exon_20_371931_372223 0/1:99:157,0,241 . . . 20 633682 rs140994111 T C NON_SYNONYMOUS_CODING SRXN1 MODERATE|MISSENSE|Atc/Gtc|I50V|137|SRXN1|protein_coding|CODING|ENST00000381962|exon_20_633620_634014 . 0/1:99:125,0,152 . . 20 744308 rs3746802 T C NON_SYNONYMOUS_CODING C20orf54 MODERATE|MISSENSE|Atc/Gtc|I303V|415|C20orf54|protein_coding|CODING|ENST00000381944|exon_20_744142_744647 . 0/1:99:248,0,239 . 0/1:99:211,0,160 20 744308 rs3746802 T C NON_SYNONYMOUS_CODING C20orf54 MODERATE|MISSENSE|Atc/Gtc|I303V|469|C20orf54|protein_coding|CODING|ENST00000217254|exon_20_744142_744647 . 0/1:99:248,0,239 . 0/1:99:211,0,160 20 744382 rs3746803 G A NON_SYNONYMOUS_CODING C20orf54 MODERATE|MISSENSE|aCg/aTg|T278M|415|C20orf54|protein_coding|CODING|ENST00000381944|exon_20_744142_744647 . 0/1:99:255,0,228 . 0/1:99:239,0,176 20 744382 rs3746803 G A NON_SYNONYMOUS_CODING C20orf54 MODERATE|MISSENSE|aCg/aTg|T278M|469|C20orf54|protein_coding|CODING|ENST00000217254|exon_20_744142_744647 . 0/1:99:255,0,228 . 0/1:99:239,0,176 20 1224774 rs17717241 A C NON_SYNONYMOUS_CODING RAD21L1 MODERATE|MISSENSE|cAt/cCt|H423P|521|RAD21L1|protein_coding|CODING|ENST00000381882|exon_20_1224690_1224814 . . . 0/1:99:255,0,255 20 1224774 rs17717241 A C NON_SYNONYMOUS_CODING RAD21L1 MODERATE|MISSENSE|cAt/cCt|H423P|521|RAD21L1|protein_coding|CODING|ENST00000402452|exon_20_1224690_1224814 . . . 0/1:99:255,0,255 20 1224774 rs17717241 A C NON_SYNONYMOUS_CODING RAD21L1 MODERATE|MISSENSE|cAt/cCt|H423P|556|RAD21L1|protein_coding|CODING|ENST00000409241|exon_20_1224690_1224814 . . . 0/1:99:255,0,255 20 1896051 rs139878822 CCGA C CODON_CHANGE_PLUS_CODON_DELETION SIRPA MODERATE||cccgat/cct|PD129P|504|SIRPA|protein_coding|CODING|ENST00000356025|exon_20_1895745_1896101 1/1:39:101,21,0 . . . 20 1896051 rs139878822 CCGA C CODON_CHANGE_PLUS_CODON_DELETION SIRPA MODERATE||cccgat/cct|PD129P|504|SIRPA|protein_coding|CODING|ENST00000358771|exon_20_1895745_1896101 1/1:39:101,21,0 . . . 20 1896051 rs139878822 CCGA C CODON_CHANGE_PLUS_CODON_DELETION SIRPA MODERATE||cccgat/cct|PD129P|508|SIRPA|protein_coding|CODING|ENST00000400068|exon_20_1895745_1896101 1/1:39:101,21,0 . . . 20 2384349 rs144338465 G A NON_SYNONYMOUS_CODING TGM6 MODERATE|MISSENSE|Gag/Aag|E406K|625|TGM6|protein_coding|CODING|ENST00000381423|exon_20_2384227_2384469 . . 0/1:99:223,0,255 . 20 2384349 rs144338465 G A NON_SYNONYMOUS_CODING TGM6 MODERATE|MISSENSE|Gag/Aag|E406K|706|TGM6|protein_coding|CODING|ENST00000202625|exon_20_2384227_2384469 . . 0/1:99:223,0,255 . 20 2552884 rs11908093 A G NON_SYNONYMOUS_CODING TMC2 MODERATE|MISSENSE|cAa/cGa|Q205R|906|TMC2|protein_coding|CODING|ENST00000358864|exon_20_2552825_2552915 . 1/1:99:255,69,0 . . 20 2778817 . C T NON_SYNONYMOUS_CODING CPXM1 MODERATE|MISSENSE|Ggc/Agc|G191S|734|CPXM1|protein_coding|CODING|ENST00000380605|exon_20_2778798_2778937 . . 0/1:99:255,0,188 . 20 3090942 rs34205880 A G NON_SYNONYMOUS_CODING UBOX5 MODERATE|MISSENSE|cTg/cCg|L425P|487|UBOX5|protein_coding|CODING|ENST00000348031|exon_20_3088219_3090960 . 0/1:99:219,0,243 . . 20 3090942 rs34205880 A G NON_SYNONYMOUS_CODING UBOX5 MODERATE|MISSENSE|cTg/cCg|L479P|541|UBOX5|protein_coding|CODING|ENST00000217173|exon_20_3088219_3090960 . 0/1:99:219,0,243 . . 20 3127459 . G A NON_SYNONYMOUS_CODING FASTKD5 MODERATE|MISSENSE|gCg/gTg|A753V|764|FASTKD5|protein_coding|CODING|ENST00000380266|exon_20_3127165_3129906 0/1:99:255,0,213 . . . 20 3128578 rs41304800 A C NON_SYNONYMOUS_CODING FASTKD5 MODERATE|MISSENSE|aTa/aGa|I380R|764|FASTKD5|protein_coding|CODING|ENST00000380266|exon_20_3127165_3129906 0/1:99:255,0,255 0/1:99:255,0,255 . . 20 3147587 rs144557583 C T NON_SYNONYMOUS_CODING RP5-1187M17.10.1 MODERATE|MISSENSE|Ggc/Agc|G75S|627|RP5-1187M17.10.1|protein_coding|CODING|ENST00000337576|exon_20_3147351_3149207 . . . 0/1:70:168,0,67 20 3147587 rs144557583 C T NON_SYNONYMOUS_CODING RP5-1187M17.10.1 MODERATE|MISSENSE|Ggc/Agc|G75S|627|RP5-1187M17.10.1|protein_coding|CODING|ENST00000360342|exon_20_3147351_3147827 . . . 0/1:70:168,0,67 20 3147587 rs144557583 C T NON_SYNONYMOUS_CODING RP5-1187M17.10.1 MODERATE|MISSENSE|Ggc/Agc|G75S|673|RP5-1187M17.10.1|protein_coding|CODING|ENST00000329152|exon_20_3147351_3149207 . . . 0/1:70:168,0,67 20 3193842 rs1127354 C A NON_SYNONYMOUS_CODING ITPA MODERATE|MISSENSE|Cca/Aca|P15T|177|ITPA|protein_coding|CODING|ENST00000455664|exon_20_3193815_3193872 0/1:99:255,0,200 . . . 20 3193842 rs1127354 C A NON_SYNONYMOUS_CODING ITPA MODERATE|MISSENSE|Cca/Aca|P32T|194|ITPA|protein_coding|CODING|ENST00000380113|exon_20_3193815_3193872 0/1:99:255,0,200 . . . 20 3651765 rs3918396 C T NON_SYNONYMOUS_CODING ADAM33 MODERATE|MISSENSE|Gtc/Atc|V590I|692|ADAM33|protein_coding|CODING|ENST00000439201|exon_20_3651653_3651800 0/1:99:153,0,225 . . . 20 3651765 rs3918396 C T NON_SYNONYMOUS_CODING ADAM33 MODERATE|MISSENSE|Gtc/Atc|V684I|787|ADAM33|protein_coding|CODING|ENST00000350009|exon_20_3651653_3651800 0/1:99:153,0,225 . . . 20 3651765 rs3918396 C T NON_SYNONYMOUS_CODING ADAM33 MODERATE|MISSENSE|Gtc/Atc|V710I|812|ADAM33|protein_coding|CODING|ENST00000379861|exon_20_3651653_3651800 0/1:99:153,0,225 . . . 20 3651765 rs3918396 C T NON_SYNONYMOUS_CODING ADAM33 MODERATE|MISSENSE|Gtc/Atc|V710I|813|ADAM33|protein_coding|CODING|ENST00000356518|exon_20_3651653_3651800 0/1:99:153,0,225 . . . 20 3655219 rs3918392 T C NON_SYNONYMOUS_CODING ADAM33 MODERATE|MISSENSE|Acc/Gcc|T178A|692|ADAM33|protein_coding|CODING|ENST00000439201|exon_20_3655151_3655340 . . 0/1:99:255,0,128 . 20 3655219 rs3918392 T C NON_SYNONYMOUS_CODING ADAM33 MODERATE|MISSENSE|Acc/Gcc|T178A|787|ADAM33|protein_coding|CODING|ENST00000350009|exon_20_3655151_3655340 . . 0/1:99:255,0,128 . 20 3655219 rs3918392 T C NON_SYNONYMOUS_CODING ADAM33 MODERATE|MISSENSE|Acc/Gcc|T178A|812|ADAM33|protein_coding|CODING|ENST00000379861|exon_20_3655151_3655340 . . 0/1:99:255,0,128 . 20 3655219 rs3918392 T C NON_SYNONYMOUS_CODING ADAM33 MODERATE|MISSENSE|Acc/Gcc|T178A|813|ADAM33|protein_coding|CODING|ENST00000356518|exon_20_3655151_3655340 . . 0/1:99:255,0,128 . 20 3670341 rs199664967 G A NON_SYNONYMOUS_CODING SIGLEC1 MODERATE|MISSENSE|Cgc/Tgc|R1635C|1701|SIGLEC1|protein_coding|CODING|ENST00000202578|exon_20_3670247_3670349 0/1:99:218,0,255 . . . 20 3670341 rs199664967 G A NON_SYNONYMOUS_CODING SIGLEC1 MODERATE|MISSENSE|Cgc/Tgc|R1635C|1709|SIGLEC1|protein_coding|CODING|ENST00000344754|exon_20_3670247_3670349 0/1:99:218,0,255 . . . 20 3844929 rs45437096 C T NON_SYNONYMOUS_CODING MAVS MODERATE|MISSENSE|Cgt/Tgt|R218C|540|MAVS|protein_coding|CODING|ENST00000428216|exon_20_3844903_3845435 . . . 0/1:99:232,0,234 20 3844929 rs45437096 C T NON_SYNONYMOUS_CODING MAVS MODERATE|MISSENSE|Cgt/Tgt|R77C|399|MAVS|protein_coding|CODING|ENST00000416600|exon_20_3844903_3845435 . . . 0/1:99:232,0,234 20 5294762 rs74315418 C T NON_SYNONYMOUS_CODING PROKR2 MODERATE|MISSENSE|cGc/cAc|R85H|384|PROKR2|protein_coding|CODING|ENST00000217270|exon_20_5294558_5295015 . . 0/1:99:234,0,124 . 20 5294762 rs74315418 C T NON_SYNONYMOUS_CODING PROKR2 MODERATE|MISSENSE|cGc/cAc|R85H|384|PROKR2|protein_coding|CODING|ENST00000546004|exon_20_5294558_5295023 . . 0/1:99:234,0,124 . 20 5923204 rs451571 T C NON_SYNONYMOUS_CODING TRMT6 MODERATE|MISSENSE|gAa/gGa|E129G|327|TRMT6|protein_coding|CODING|ENST00000453074|exon_20_5923074_5923432 . . 0/1:99:194,0,255 . 20 5923204 rs451571 T C NON_SYNONYMOUS_CODING TRMT6 MODERATE|MISSENSE|gAa/gGa|E299G|497|TRMT6|protein_coding|CODING|ENST00000203001|exon_20_5923074_5923432 . . 0/1:99:194,0,255 . 20 5935303 rs6117014 A C NON_SYNONYMOUS_CODING MCM8 MODERATE|MISSENSE|aaA/aaC|K101N|203|MCM8|protein_coding|CODING|ENST00000399350|exon_20_5935254_5935336 . 0/1:99:255,0,255 . 0/1:99:240,0,255 20 5935303 rs6117014 A C NON_SYNONYMOUS_CODING MCM8 MODERATE|MISSENSE|aaA/aaC|K101N|793|MCM8|protein_coding|CODING|ENST00000378883|exon_20_5935254_5935336 . 0/1:99:255,0,255 . 0/1:99:240,0,255 20 5935303 rs6117014 A C NON_SYNONYMOUS_CODING MCM8 MODERATE|MISSENSE|aaA/aaC|K101N|824|MCM8|protein_coding|CODING|ENST00000265187|exon_20_5935254_5935336 . 0/1:99:255,0,255 . 0/1:99:240,0,255 20 5935303 rs6117014 A C NON_SYNONYMOUS_CODING MCM8 MODERATE|MISSENSE|aaA/aaC|K101N|840|MCM8|protein_coding|CODING|ENST00000378896|exon_20_5935254_5935336 . 0/1:99:255,0,255 . 0/1:99:240,0,255 20 5935303 rs6117014 A C NON_SYNONYMOUS_CODING MCM8 MODERATE|MISSENSE|aaA/aaC|K101N|880|MCM8|protein_coding|CODING|ENST00000378886|exon_20_5935254_5935336 . 0/1:99:255,0,255 . 0/1:99:240,0,255 20 5948227 rs16991615 G A NON_SYNONYMOUS_CODING MCM8 MODERATE|MISSENSE|Gaa/Aaa|E341K|793|MCM8|protein_coding|CODING|ENST00000378883|exon_20_5948082_5948233 . . 0/1:99:255,0,255 . 20 5948227 rs16991615 G A NON_SYNONYMOUS_CODING MCM8 MODERATE|MISSENSE|Gaa/Aaa|E341K|824|MCM8|protein_coding|CODING|ENST00000265187|exon_20_5948082_5948233 . . 0/1:99:255,0,255 . 20 5948227 rs16991615 G A NON_SYNONYMOUS_CODING MCM8 MODERATE|MISSENSE|Gaa/Aaa|E341K|840|MCM8|protein_coding|CODING|ENST00000378896|exon_20_5948082_5948233 . . 0/1:99:255,0,255 . 20 5948227 rs16991615 G A NON_SYNONYMOUS_CODING MCM8 MODERATE|MISSENSE|Gaa/Aaa|E341K|880|MCM8|protein_coding|CODING|ENST00000378886|exon_20_5948082_5948233 . . 0/1:99:255,0,255 . 20 5974265 rs16991638 A G NON_SYNONYMOUS_CODING MCM8 MODERATE|MISSENSE|aAc/aGc|N738S|793|MCM8|protein_coding|CODING|ENST00000378883|exon_20_5974152_5974341 . 0/1:99:255,0,255 . 0/1:99:255,0,191 20 5974265 rs16991638 A G NON_SYNONYMOUS_CODING MCM8 MODERATE|MISSENSE|aAc/aGc|N769S|824|MCM8|protein_coding|CODING|ENST00000265187|exon_20_5974152_5974341 . 0/1:99:255,0,255 . 0/1:99:255,0,191 20 5974265 rs16991638 A G NON_SYNONYMOUS_CODING MCM8 MODERATE|MISSENSE|aAc/aGc|N785S|840|MCM8|protein_coding|CODING|ENST00000378896|exon_20_5974152_5974341 . 0/1:99:255,0,255 . 0/1:99:255,0,191 20 5974265 rs16991638 A G NON_SYNONYMOUS_CODING MCM8 MODERATE|MISSENSE|aAc/aGc|N825S|880|MCM8|protein_coding|CODING|ENST00000378886|exon_20_5974152_5974341 . 0/1:99:255,0,255 . 0/1:99:255,0,191 20 5986950 rs6085343 G A NON_SYNONYMOUS_CODING CRLS1 MODERATE|MISSENSE|Gct/Act|A20T|205|CRLS1|protein_coding|CODING|ENST00000452938|exon_20_5986796_5987198 . . 0/1:86:83,0,208 0/1:97:231,0,94 20 5986950 rs6085343 G A NON_SYNONYMOUS_CODING CRLS1 MODERATE|MISSENSE|Gct/Act|A20T|301|CRLS1|protein_coding|CODING|ENST00000378863|exon_20_5986736_5987198 . . 0/1:86:83,0,208 0/1:97:231,0,94 20 6011934 rs41282950 C T NON_SYNONYMOUS_CODING CRLS1 MODERATE|MISSENSE|cCa/cTa|P193L|301|CRLS1|protein_coding|CODING|ENST00000378863|exon_20_6011931_6012016 . . 0/1:99:255,0,255 0/1:99:251,0,255 20 6011934 rs41282950 C T NON_SYNONYMOUS_CODING CRLS1 MODERATE|MISSENSE|cCa/cTa|P94L|202|CRLS1|protein_coding|CODING|ENST00000378868|exon_20_6011931_6012016 . . 0/1:99:255,0,255 0/1:99:251,0,255 20 6033033 rs6107751 G A NON_SYNONYMOUS_CODING LRRN4 MODERATE|MISSENSE|cCg/cTg|P138L|740|LRRN4|protein_coding|CODING|ENST00000378858|exon_20_6032791_6033450 . 0/1:99:210,0,171 0/1:99:218,0,255 1/1:81:255,42,0 20 6090969 rs55666319 A G NON_SYNONYMOUS_CODING FERMT1 MODERATE|MISSENSE|gTt/gCt|V241A|555|FERMT1|protein_coding|CODING|ENST00000339538|exon_20_6090945_6091158 . 0/1:99:255,0,141 0/1:99:229,0,243 0/1:99:246,0,255 20 6090969 rs55666319 A G NON_SYNONYMOUS_CODING FERMT1 MODERATE|MISSENSE|gTt/gCt|V241A|677|FERMT1|protein_coding|CODING|ENST00000217289|exon_20_6090945_6091158 . 0/1:99:255,0,141 0/1:99:229,0,243 0/1:99:246,0,255 20 7864284 rs34249643 T C NON_SYNONYMOUS_CODING HAO1 MODERATE|MISSENSE|Aag/Gag|K357E|370|HAO1|protein_coding|CODING|ENST00000378789|exon_20_7863628_7864310 . 0/1:99:255,0,255 . 0/1:99:255,0,245 20 7963169 . A G NON_SYNONYMOUS_CODING TMX4 MODERATE|MISSENSE|cTt/cCt|L260P|349|TMX4|protein_coding|CODING|ENST00000246024|exon_20_7957995_7963268 . . . 0/1:99:255,0,255 20 9401949 . A G NON_SYNONYMOUS_CODING PLCB4 MODERATE|MISSENSE|atA/atG|I556M|1023|PLCB4|protein_coding|CODING|ENST00000414679|exon_20_9401944_9402108 . . 0/1:99:161,0,255 . 20 9401949 . A G NON_SYNONYMOUS_CODING PLCB4 MODERATE|MISSENSE|atA/atG|I708M|1175|PLCB4|protein_coding|CODING|ENST00000278655|exon_20_9401944_9402108 . . 0/1:99:161,0,255 . 20 9401949 . A G NON_SYNONYMOUS_CODING PLCB4 MODERATE|MISSENSE|atA/atG|I708M|1175|PLCB4|protein_coding|CODING|ENST00000378493|exon_20_9401944_9402108 . . 0/1:99:161,0,255 . 20 9401949 . A G NON_SYNONYMOUS_CODING PLCB4 MODERATE|MISSENSE|atA/atG|I708M|1194|PLCB4|protein_coding|CODING|ENST00000334005|exon_20_9401944_9402108 . . 0/1:99:161,0,255 . 20 9401949 . A G NON_SYNONYMOUS_CODING PLCB4 MODERATE|MISSENSE|atA/atG|I708M|1194|PLCB4|protein_coding|CODING|ENST00000378501|exon_20_9401944_9402108 . . 0/1:99:161,0,255 . 20 9401949 . A G NON_SYNONYMOUS_CODING PLCB4 MODERATE|MISSENSE|atA/atG|I720M|1187|PLCB4|protein_coding|CODING|ENST00000378473|exon_20_9401944_9402108 . . 0/1:99:161,0,255 . 20 10030178 . C T NON_SYNONYMOUS_CODING ANKRD5 MODERATE|MISSENSE|Cca/Tca|P321S|776|ANKRD5|protein_coding|CODING|ENST00000378380|exon_20_10030038_10030860 . . . 0/1:99:208,0,255 20 10030178 . C T NON_SYNONYMOUS_CODING ANKRD5 MODERATE|MISSENSE|Cca/Tca|P321S|776|ANKRD5|protein_coding|CODING|ENST00000378392|exon_20_10030038_10030860 . . . 0/1:99:208,0,255 20 10603326 rs73075324 A G NON_SYNONYMOUS_CODING C20orf94 MODERATE|MISSENSE|Aaa/Gaa|K176E|408|C20orf94|protein_coding|CODING|ENST00000334534|exon_20_10603307_10604027 . . . 0/1:99:255,0,255 20 10603750 rs6077853 G A NON_SYNONYMOUS_CODING C20orf94 MODERATE|MISSENSE|cGa/cAa|R317Q|408|C20orf94|protein_coding|CODING|ENST00000334534|exon_20_10603307_10604027 0/1:99:255,0,255 0/1:99:255,0,255 0/1:99:255,0,255 0/1:99:255,0,255 20 13695607 rs34414644 T G NON_SYNONYMOUS_CODING ESF1 MODERATE|MISSENSE|Att/Ctt|I824L|851|ESF1|protein_coding|CODING|ENST00000202816|exon_20_13694969_13695814 . . 0/1:99:255,0,255 . 20 13912308 rs143129534 C T NON_SYNONYMOUS_CODING SEL1L2 MODERATE|MISSENSE|cGt/cAt|R75H|575|SEL1L2|protein_coding|CODING|ENST00000378072|exon_20_13912249_13912417 . . 0/1:99:255,0,255 . 20 13912308 rs143129534 C T NON_SYNONYMOUS_CODING SEL1L2 MODERATE|MISSENSE|cGt/cAt|R75H|688|SEL1L2|protein_coding|CODING|ENST00000284951|exon_20_13912249_13912417 . . 0/1:99:255,0,255 . 20 18022294 rs201607038 C T NON_SYNONYMOUS_CODING OVOL2 MODERATE|MISSENSE|cGc/cAc|R132H|275|OVOL2|protein_coding|CODING|ENST00000278780|exon_20_18022178_18022367 . . 0/1:99:211,0,251 . 20 18143303 . C T NON_SYNONYMOUS_CODING CSRP2BP MODERATE|MISSENSE|cCc/cTc|P334L|654|CSRP2BP|protein_coding|CODING|ENST00000489634|exon_20_18143021_18143589 0/1:99:255,0,243 . . . 20 18143303 . C T NON_SYNONYMOUS_CODING CSRP2BP MODERATE|MISSENSE|cCc/cTc|P461L|781|CSRP2BP|protein_coding|CODING|ENST00000377681|exon_20_18143021_18143589 0/1:99:255,0,243 . . . 20 18143303 . C T NON_SYNONYMOUS_CODING CSRP2BP MODERATE|MISSENSE|cCc/cTc|P462L|782|CSRP2BP|protein_coding|CODING|ENST00000278816|exon_20_18143021_18143589 0/1:99:255,0,243 . . . 20 18143303 . C T NON_SYNONYMOUS_CODING CSRP2BP MODERATE|MISSENSE|cCc/cTc|P462L|782|CSRP2BP|protein_coding|CODING|ENST00000435364|exon_20_18143021_18143589 0/1:99:255,0,243 . . . 20 18295730 rs34099160 C T NON_SYNONYMOUS_CODING ZNF133 MODERATE|MISSENSE|Ctc/Ttc|L16F|591|ZNF133|protein_coding|CODING|ENST00000402618|exon_20_18295713_18297569 . . 0/1:99:255,0,219 0/1:59:56,0,222 20 18295730 rs34099160 C T NON_SYNONYMOUS_CODING ZNF133 MODERATE|MISSENSE|Ctc/Ttc|L78F|653|ZNF133|protein_coding|CODING|ENST00000377671|exon_20_18295716_18297640 . . 0/1:99:255,0,219 0/1:59:56,0,222 20 18295730 rs34099160 C T NON_SYNONYMOUS_CODING ZNF133 MODERATE|MISSENSE|Ctc/Ttc|L79F|141|ZNF133|protein_coding|CODING|ENST00000434018|exon_20_18295713_18295923 . . 0/1:99:255,0,219 0/1:59:56,0,222 20 18295730 rs34099160 C T NON_SYNONYMOUS_CODING ZNF133 MODERATE|MISSENSE|Ctc/Ttc|L79F|178|ZNF133|protein_coding|CODING|ENST00000425686|exon_20_18295713_18296032 . . 0/1:99:255,0,219 0/1:59:56,0,222 20 18295730 rs34099160 C T NON_SYNONYMOUS_CODING ZNF133 MODERATE|MISSENSE|Ctc/Ttc|L79F|654|ZNF133|protein_coding|CODING|ENST00000316358|exon_20_18295713_18297640 . . 0/1:99:255,0,219 0/1:59:56,0,222 20 18295730 rs34099160 C T NON_SYNONYMOUS_CODING ZNF133 MODERATE|MISSENSE|Ctc/Ttc|L79F|654|ZNF133|protein_coding|CODING|ENST00000401790|exon_20_18295713_18297637 . . 0/1:99:255,0,219 0/1:59:56,0,222 20 18295730 rs34099160 C T NON_SYNONYMOUS_CODING ZNF133 MODERATE|MISSENSE|Ctc/Ttc|L82F|657|ZNF133|protein_coding|CODING|ENST00000396026|exon_20_18295713_18297635 . . 0/1:99:255,0,219 0/1:59:56,0,222 20 18295730 rs34099160 C T NON_SYNONYMOUS_CODING ZNF133 MODERATE|MISSENSE|Ctc/Ttc|L93F|98|ZNF133|protein_coding|CODING|ENST00000360010|exon_20_18295713_18295750 . . 0/1:99:255,0,219 0/1:59:56,0,222 20 18296076 rs2228273 G A NON_SYNONYMOUS_CODING ZNF133 MODERATE|MISSENSE|gGg/gAg|G131E|591|ZNF133|protein_coding|CODING|ENST00000402618|exon_20_18295713_18297569 . . 0/1:99:255,0,254 0/1:99:234,0,211 20 18296076 rs2228273 G A NON_SYNONYMOUS_CODING ZNF133 MODERATE|MISSENSE|gGg/gAg|G193E|653|ZNF133|protein_coding|CODING|ENST00000377671|exon_20_18295716_18297640 . . 0/1:99:255,0,254 0/1:99:234,0,211 20 18296076 rs2228273 G A NON_SYNONYMOUS_CODING ZNF133 MODERATE|MISSENSE|gGg/gAg|G194E|654|ZNF133|protein_coding|CODING|ENST00000316358|exon_20_18295713_18297640 . . 0/1:99:255,0,254 0/1:99:234,0,211 20 18296076 rs2228273 G A NON_SYNONYMOUS_CODING ZNF133 MODERATE|MISSENSE|gGg/gAg|G194E|654|ZNF133|protein_coding|CODING|ENST00000401790|exon_20_18295713_18297637 . . 0/1:99:255,0,254 0/1:99:234,0,211 20 18296076 rs2228273 G A NON_SYNONYMOUS_CODING ZNF133 MODERATE|MISSENSE|gGg/gAg|G197E|657|ZNF133|protein_coding|CODING|ENST00000396026|exon_20_18295713_18297635 . . 0/1:99:255,0,254 0/1:99:234,0,211 20 18296076 rs2228273 G A NON_SYNONYMOUS_CODING ZNF133 MODERATE|MISSENSE|gGg/gAg|G99E|559|ZNF133|protein_coding|CODING|ENST00000535822|exon_20_18295713_18297630 . . 0/1:99:255,0,254 0/1:99:234,0,211 20 18296076 rs2228273 G A NON_SYNONYMOUS_CODING ZNF133 MODERATE|MISSENSE|gGg/gAg|G99E|559|ZNF133|protein_coding|CODING|ENST00000538547|exon_20_18295716_18297638 . . 0/1:99:255,0,254 0/1:99:234,0,211 20 18534917 rs202187007 G A NON_SYNONYMOUS_CODING SEC23B MODERATE|MISSENSE|atG/atA|M156I|246|SEC23B|protein_coding|CODING|ENST00000422877|exon_20_18534879_18535034 . . 0/1:99:255,0,173 . 20 18534917 rs202187007 G A NON_SYNONYMOUS_CODING SEC23B MODERATE|MISSENSE|atG/atA|M677I|767|SEC23B|protein_coding|CODING|ENST00000262544|exon_20_18534879_18535034 . . 0/1:99:255,0,173 . 20 18534917 rs202187007 G A NON_SYNONYMOUS_CODING SEC23B MODERATE|MISSENSE|atG/atA|M677I|767|SEC23B|protein_coding|CODING|ENST00000336714|exon_20_18534879_18535034 . . 0/1:99:255,0,173 . 20 18534917 rs202187007 G A NON_SYNONYMOUS_CODING SEC23B MODERATE|MISSENSE|atG/atA|M677I|767|SEC23B|protein_coding|CODING|ENST00000377465|exon_20_18534879_18535034 . . 0/1:99:255,0,173 . 20 18534917 rs202187007 G A NON_SYNONYMOUS_CODING SEC23B MODERATE|MISSENSE|atG/atA|M677I|767|SEC23B|protein_coding|CODING|ENST00000377475|exon_20_18534879_18535034 . . 0/1:99:255,0,173 . 20 19698205 rs150848944 G A NON_SYNONYMOUS_CODING SLC24A3 MODERATE|MISSENSE|Gta/Ata|V585I|644|SLC24A3|protein_coding|CODING|ENST00000328041|exon_20_19698172_19698237 . . . 0/1:99:255,0,255 20 19937312 rs142502440 G A NON_SYNONYMOUS_CODING RIN2 MODERATE|MISSENSE|tGt/tAt|C120Y|944|RIN2|protein_coding|CODING|ENST00000255006|exon_20_19937259_19937451 . . . 0/1:99:227,0,255 20 19937312 rs142502440 G A NON_SYNONYMOUS_CODING RIN2 MODERATE|MISSENSE|tGt/tAt|C71Y|462|RIN2|protein_coding|CODING|ENST00000440354|exon_20_19937259_19937451 . . . 0/1:99:227,0,255 20 20033316 rs142988900 G A NON_SYNONYMOUS_CODING CRNKL1 MODERATE|MISSENSE|Cgg/Tgg|R40W|836|CRNKL1|protein_coding|CODING|ENST00000377327|exon_20_20032936_20033366 . . 0/1:99:227,0,230 . 20 20033316 rs142988900 G A NON_SYNONYMOUS_CODING CRNKL1 MODERATE|MISSENSE|Cgg/Tgg|R52W|848|CRNKL1|protein_coding|CODING|ENST00000377340|exon_20_20032936_20033402 . . 0/1:99:227,0,230 . 20 20079360 rs6075614 A G NON_SYNONYMOUS_CODING C20orf26 MODERATE|MISSENSE|cAt/cGt|H13R|110|C20orf26|protein_coding|CODING|ENST00000442372|exon_20_20079299_20079458 . . 0/1:99:241,0,228 0/1:99:237,0,219 20 20079360 rs6075614 A G NON_SYNONYMOUS_CODING C20orf26 MODERATE|MISSENSE|cAt/cGt|H150R|159|C20orf26|protein_coding|CODING|ENST00000472660|exon_20_20079299_20079393 . . 0/1:99:241,0,228 0/1:99:237,0,219 20 20079360 rs6075614 A G NON_SYNONYMOUS_CODING C20orf26 MODERATE|MISSENSE|cAt/cGt|H208R|370|C20orf26|protein_coding|CODING|ENST00000340348|exon_20_20079299_20079458 . . 0/1:99:241,0,228 0/1:99:237,0,219 20 20079360 rs6075614 A G NON_SYNONYMOUS_CODING C20orf26 MODERATE|MISSENSE|cAt/cGt|H254R|1177|C20orf26|protein_coding|CODING|ENST00000343997|exon_20_20079299_20079458 . . 0/1:99:241,0,228 0/1:99:237,0,219 20 20079360 rs6075614 A G NON_SYNONYMOUS_CODING C20orf26 MODERATE|MISSENSE|cAt/cGt|H254R|1203|C20orf26|protein_coding|CODING|ENST00000389655|exon_20_20079299_20079458 . . 0/1:99:241,0,228 0/1:99:237,0,219 20 20079360 rs6075614 A G NON_SYNONYMOUS_CODING C20orf26 MODERATE|MISSENSE|cAt/cGt|H254R|1237|C20orf26|protein_coding|CODING|ENST00000245957|exon_20_20079299_20079458 . . 0/1:99:241,0,228 0/1:99:237,0,219 20 20079360 rs6075614 A G NON_SYNONYMOUS_CODING C20orf26 MODERATE|MISSENSE|cAt/cGt|H254R|470|C20orf26|protein_coding|CODING|ENST00000377306|exon_20_20079299_20079458 . . 0/1:99:241,0,228 0/1:99:237,0,219 20 20079360 rs6075614 A G NON_SYNONYMOUS_CODING C20orf26 MODERATE|MISSENSE|cAt/cGt|H254R|470|C20orf26|protein_coding|CODING|ENST00000451767|exon_20_20079299_20079458 . . 0/1:99:241,0,228 0/1:99:237,0,219 20 20079360 rs6075614 A G NON_SYNONYMOUS_CODING C20orf26 MODERATE|MISSENSE|cAt/cGt|H46R|144|C20orf26|protein_coding|CODING|ENST00000377297|exon_20_20079299_20079458 . . 0/1:99:241,0,228 0/1:99:237,0,219 20 21695347 rs17861061 C T NON_SYNONYMOUS_CODING PAX1 MODERATE|MISSENSE|cCa/cTa|P504L|534|PAX1|protein_coding|CODING|ENST00000398485|exon_20_21695119_21696620 0/1:59:143,0,56 . 0/1:99:206,0,131 . 20 23345589 rs3810574 A G NON_SYNONYMOUS_CODING GZF1 MODERATE|MISSENSE|aAt/aGt|N190S|711|GZF1|protein_coding|CODING|ENST00000338121|exon_20_23345000_23346384 0/1:99:229,0,147 . . . 20 23345589 rs3810574 A G NON_SYNONYMOUS_CODING GZF1 MODERATE|MISSENSE|aAt/aGt|N190S|711|GZF1|protein_coding|CODING|ENST00000377051|exon_20_23345021_23346384 0/1:99:229,0,147 . . . 20 23967146 . C T NON_SYNONYMOUS_CODING GGTLC1 MODERATE|MISSENSE|Ggg/Agg|G35R|225|GGTLC1|protein_coding|CODING|ENST00000278765|exon_20_23967073_23967282 0/1:99:109,0,192 . . . 20 23967146 . C T NON_SYNONYMOUS_CODING GGTLC1 MODERATE|MISSENSE|Ggg/Agg|G35R|225|GGTLC1|protein_coding|CODING|ENST00000286890|exon_20_23967073_23967432 0/1:99:109,0,192 . . . 20 23967146 . C T NON_SYNONYMOUS_CODING GGTLC1 MODERATE|MISSENSE|Ggg/Agg|G35R|225|GGTLC1|protein_coding|CODING|ENST00000335694|exon_20_23967073_23967282 0/1:99:109,0,192 . . . 20 24523893 rs6083553 G A NON_SYNONYMOUS_CODING SYNDIG1 MODERATE|MISSENSE|Ggg/Agg|G54R|258|SYNDIG1|protein_coding|CODING|ENST00000376862|exon_20_24523656_24524213 . 0/1:99:191,0,243 . . 20 25290152 rs199647442 C T NON_SYNONYMOUS_CODING ABHD12 MODERATE|MISSENSE|Gtt/Att|V182I|186|ABHD12|protein_coding|CODING|ENST00000450393|exon_20_25290135_25290211 0/1:99:188,0,220 . . . 20 25290152 rs199647442 C T NON_SYNONYMOUS_CODING ABHD12 MODERATE|MISSENSE|Gtt/Att|V189I|360|ABHD12|protein_coding|CODING|ENST00000526543|exon_20_25290082_25290211 0/1:99:188,0,220 . . . 20 25290152 rs199647442 C T NON_SYNONYMOUS_CODING ABHD12 MODERATE|MISSENSE|Gtt/Att|V227I|398|ABHD12|protein_coding|CODING|ENST00000339157|exon_20_25290082_25290211 0/1:99:188,0,220 . . . 20 25290152 rs199647442 C T NON_SYNONYMOUS_CODING ABHD12 MODERATE|MISSENSE|Gtt/Att|V227I|404|ABHD12|protein_coding|CODING|ENST00000376542|exon_20_25290082_25290211 0/1:99:188,0,220 . . . 20 25434139 rs17857107 C T NON_SYNONYMOUS_CODING NINL MODERATE|MISSENSE|cGc/cAc|R1017H|1033|NINL|protein_coding|CODING|ENST00000422516|exon_20_25433341_25434278 . . 0/1:99:231,0,162 . 20 25434139 rs17857107 C T NON_SYNONYMOUS_CODING NINL MODERATE|MISSENSE|cGc/cAc|R1366H|1382|NINL|protein_coding|CODING|ENST00000278886|exon_20_25433341_25434278 . . 0/1:99:231,0,162 . 20 25457022 rs6115193 T C NON_SYNONYMOUS_CODING NINL MODERATE|MISSENSE|Agg/Ggg|R969G|1382|NINL|protein_coding|CODING|ENST00000278886|exon_20_25456679_25457725 . . 0/1:99:173,0,219 . 20 25755694 . C T NON_SYNONYMOUS_CODING FAM182B MODERATE|MISSENSE|Ggg/Agg|G88R|152|FAM182B|protein_coding|CODING|ENST00000376403|exon_20_25754654_25755948 0/1:99:255,0,246 . . . 20 30193377 rs1802548 A G NON_SYNONYMOUS_CODING ID1 MODERATE|MISSENSE|Aac/Gac|N63D|149|ID1|protein_coding|CODING|ENST00000376105|exon_20_30193092_30194313 . . . 0/1:99:224,0,119 20 30193377 rs1802548 A G NON_SYNONYMOUS_CODING ID1 MODERATE|MISSENSE|Aac/Gac|N63D|155|ID1|protein_coding|CODING|ENST00000376112|exon_20_30193086_30193616 . . . 0/1:99:224,0,119 20 30616835 rs6089151 G A NON_SYNONYMOUS_CODING C20orf160 MODERATE|MISSENSE|Ggc/Agc|G144S|324|C20orf160|protein_coding|CODING|ENST00000452892|exon_20_30616798_30616927 0/1:99:142,0,228 . . 0/1:99:188,0,237 20 30616835 rs6089151 G A NON_SYNONYMOUS_CODING C20orf160 MODERATE|MISSENSE|Ggc/Agc|G391S|571|C20orf160|protein_coding|CODING|ENST00000300415|exon_20_30616798_30616927 0/1:99:142,0,228 . . 0/1:99:188,0,237 20 30674554 . T A NON_SYNONYMOUS_CODING HCK MODERATE|MISSENSE|cTt/cAt|L298H|504|HCK|protein_coding|CODING|ENST00000518730|exon_20_30674431_30674610 0/1:99:184,0,235 . . . 20 30674554 . T A NON_SYNONYMOUS_CODING HCK MODERATE|MISSENSE|cTt/cAt|L299H|505|HCK|protein_coding|CODING|ENST00000520553|exon_20_30674431_30674610 0/1:99:184,0,235 . . . 20 30674554 . T A NON_SYNONYMOUS_CODING HCK MODERATE|MISSENSE|cTt/cAt|L299H|505|HCK|protein_coding|CODING|ENST00000538448|exon_20_30674431_30674610 0/1:99:184,0,235 . . . 20 30674554 . T A NON_SYNONYMOUS_CODING HCK MODERATE|MISSENSE|cTt/cAt|L300H|506|HCK|protein_coding|CODING|ENST00000534862|exon_20_30674431_30674610 0/1:99:184,0,235 . . . 20 30674554 . T A NON_SYNONYMOUS_CODING HCK MODERATE|MISSENSE|cTt/cAt|L319H|525|HCK|protein_coding|CODING|ENST00000375862|exon_20_30674431_30674610 0/1:99:184,0,235 . . . 20 30674554 . T A NON_SYNONYMOUS_CODING HCK MODERATE|MISSENSE|cTt/cAt|L320H|526|HCK|protein_coding|CODING|ENST00000375852|exon_20_30674431_30674610 0/1:99:184,0,235 . . . 20 30723956 . C A NON_SYNONYMOUS_CODING TM9SF4 MODERATE|MISSENSE|aCc/aAc|T53N|625|TM9SF4|protein_coding|CODING|ENST00000217315|exon_20_30723877_30723976 . . 0/1:99:255,0,220 . 20 30723956 . C A NON_SYNONYMOUS_CODING TM9SF4 MODERATE|MISSENSE|aCc/aAc|T70N|642|TM9SF4|protein_coding|CODING|ENST00000398022|exon_20_30723877_30723976 . . 0/1:99:255,0,220 . 20 31023821 rs139115934 G T NON_SYNONYMOUS_CODING ASXL1 MODERATE|MISSENSE|gaG/gaT|E1023D|1462|ASXL1|protein_coding|CODING|ENST00000412498|exon_20_31022475_31025141 . . 0/1:99:236,0,244 . 20 31023821 rs139115934 G T NON_SYNONYMOUS_CODING ASXL1 MODERATE|MISSENSE|gaG/gaT|E1097D|1536|ASXL1|protein_coding|CODING|ENST00000306058|exon_20_31022235_31027121 . . 0/1:99:236,0,244 . 20 31023821 rs139115934 G T NON_SYNONYMOUS_CODING ASXL1 MODERATE|MISSENSE|gaG/gaT|E1102D|1541|ASXL1|protein_coding|CODING|ENST00000358956|exon_20_31022235_31027121 . . 0/1:99:236,0,244 . 20 31023821 rs139115934 G T NON_SYNONYMOUS_CODING ASXL1 MODERATE|MISSENSE|gaG/gaT|E1102D|1541|ASXL1|protein_coding|CODING|ENST00000375687|exon_20_31022235_31027122 . . 0/1:99:236,0,244 . 20 31023821 rs139115934 G T NON_SYNONYMOUS_CODING ASXL1 MODERATE|MISSENSE|gaG/gaT|E1102D|1541|ASXL1|protein_coding|CODING|ENST00000421155|exon_20_31022235_31025694 . . 0/1:99:236,0,244 . 20 31035129 rs1737887 A G NON_SYNONYMOUS_CODING C20orf112 MODERATE|MISSENSE|cTg/cCg|L389P|398|C20orf112|protein_coding|CODING|ENST00000397984|exon_20_31035098_31035144 . . 0/1:99:255,0,139 0/1:99:134,0,216 20 31596430 rs149889663 T A NON_SYNONYMOUS_CODING BPIFB2 MODERATE|MISSENSE|gTg/gAg|V17E|458|BPIFB2|protein_coding|CODING|ENST00000170150|exon_20_31596347_31596489 0/1:99:161,0,246 . . . 20 31671209 rs13036385 G C NON_SYNONYMOUS_CODING BPIFB4 MODERATE|MISSENSE|cGa/cCa|R69P|614|BPIFB4|protein_coding|CODING|ENST00000375483|exon_20_31671173_31671680 . . 0/1:88:85,0,159 0/1:99:97,0,152 20 31671575 rs144272671 T G NON_SYNONYMOUS_CODING BPIFB4 MODERATE|MISSENSE|cTc/cGc|L191R|614|BPIFB4|protein_coding|CODING|ENST00000375483|exon_20_31671173_31671680 0/1:99:180,0,194 . . . 20 31671599 rs4339026 A G NON_SYNONYMOUS_CODING BPIFB4 MODERATE|MISSENSE|gAt/gGt|D199G|614|BPIFB4|protein_coding|CODING|ENST00000375483|exon_20_31671173_31671680 . . 0/1:99:228,0,209 0/1:99:147,0,202 20 31876681 rs1078761 A G NON_SYNONYMOUS_CODING BPIFB1 MODERATE|MISSENSE|Atc/Gtc|I84V|146|BPIFB1|protein_coding|CODING|ENST00000423645|exon_20_31876547_31876688 . . . 1/1:87:255,45,0 20 31876681 rs1078761 A G NON_SYNONYMOUS_CODING BPIFB1 MODERATE|MISSENSE|Atc/Gtc|I84V|484|BPIFB1|protein_coding|CODING|ENST00000253354|exon_20_31876547_31876688 . . . 1/1:87:255,45,0 20 31894789 rs17856249 C G NON_SYNONYMOUS_CODING BPIFB1 MODERATE|MISSENSE|aCc/aGc|T464S|484|BPIFB1|protein_coding|CODING|ENST00000253354|exon_20_31894717_31894793 . . . 0/1:99:210,0,164 20 32245789 rs148298666 T C NON_SYNONYMOUS_CODING NECAB3 MODERATE|MISSENSE|cAc/cGc|H340R|362|NECAB3|protein_coding|CODING|ENST00000375238|exon_20_32245748_32245839 . . 0/1:99:199,0,188 . 20 32245789 rs148298666 T C NON_SYNONYMOUS_CODING NECAB3 MODERATE|MISSENSE|cAc/cGc|H374R|396|NECAB3|protein_coding|CODING|ENST00000246190|exon_20_32245748_32245839 . . 0/1:99:199,0,188 . 20 32247750 rs186672768 C T NON_SYNONYMOUS_CODING NECAB3 MODERATE|MISSENSE|cGc/cAc|R195H|288|NECAB3|protein_coding|CODING|ENST00000439478|exon_20_32247691_32247809 . 0/1:99:128,0,216 . . 20 32247750 rs186672768 C T NON_SYNONYMOUS_CODING NECAB3 MODERATE|MISSENSE|cGc/cAc|R195H|362|NECAB3|protein_coding|CODING|ENST00000375238|exon_20_32247691_32247809 . 0/1:99:128,0,216 . . 20 32247750 rs186672768 C T NON_SYNONYMOUS_CODING NECAB3 MODERATE|MISSENSE|cGc/cAc|R195H|396|NECAB3|protein_coding|CODING|ENST00000246190|exon_20_32247691_32247809 . 0/1:99:128,0,216 . . 20 32266134 rs35385772 C T NON_SYNONYMOUS_CODING E2F1 MODERATE|MISSENSE|Ggc/Agc|G200S|437|E2F1|protein_coding|CODING|ENST00000343380|exon_20_32266007_32266159 . . 0/1:99:203,0,208 0/1:99:251,0,115 20 32664601 rs148075348 C A NON_SYNONYMOUS_CODING RALY MODERATE|MISSENSE|gCg/gAg|A147E|170|RALY|protein_coding|CODING|ENST00000333552|exon_20_32664508_32664621 . 0/1:99:133,0,207 . . 20 32664601 rs148075348 C A NON_SYNONYMOUS_CODING RALY MODERATE|MISSENSE|gCg/gAg|A197E|236|RALY|protein_coding|CODING|ENST00000442805|exon_20_32664508_32664621 . 0/1:99:133,0,207 . . 20 32664601 rs148075348 C A NON_SYNONYMOUS_CODING RALY MODERATE|MISSENSE|gCg/gAg|A197E|290|RALY|protein_coding|CODING|ENST00000375114|exon_20_32664508_32664621 . 0/1:99:133,0,207 . . 20 32664601 rs148075348 C A NON_SYNONYMOUS_CODING RALY MODERATE|MISSENSE|gCg/gAg|A213E|306|RALY|protein_coding|CODING|ENST00000246194|exon_20_32664508_32664621 . 0/1:99:133,0,207 . . 20 32664910 . TGGTGGCGGTGGCGGTGGC TGGTGGCGGTGGC CODON_DELETION RALY MODERATE||ggtggc/-|GG234-|236|RALY|protein_coding|CODING|ENST00000442805|exon_20_32664834_32664935 . . 0/1:80:77,0,176 . 20 32664910 . TGGTGGCGGTGGCGGTGGC TGGTGGCGGTGGC CODON_DELETION RALY MODERATE||ggtggc/-|GG234-|290|RALY|protein_coding|CODING|ENST00000375114|exon_20_32664834_32665051 . . 0/1:80:77,0,176 . 20 32664910 . TGGTGGCGGTGGCGGTGGC TGGTGGCGGTGGC CODON_DELETION RALY MODERATE||ggtggc/-|GG250-|306|RALY|protein_coding|CODING|ENST00000246194|exon_20_32664834_32665051 . . 0/1:80:77,0,176 . 20 32664926 rs2281209 G A NON_SYNONYMOUS_CODING RALY MODERATE|MISSENSE|Ggc/Agc|G235S|236|RALY|protein_coding|CODING|ENST00000442805|exon_20_32664834_32664935 0/1:99:142,0,108 . . . 20 32664926 rs2281209 G A NON_SYNONYMOUS_CODING RALY MODERATE|MISSENSE|Ggc/Agc|G235S|290|RALY|protein_coding|CODING|ENST00000375114|exon_20_32664834_32665051 0/1:99:142,0,108 . . . 20 32664926 rs2281209 G A NON_SYNONYMOUS_CODING RALY MODERATE|MISSENSE|Ggc/Agc|G251S|306|RALY|protein_coding|CODING|ENST00000246194|exon_20_32664834_32665051 0/1:99:142,0,108 . . . 20 33470773 rs140291665 G T NON_SYNONYMOUS_CODING ACSS2 MODERATE|MISSENSE|Gat/Tat|D111Y|146|ACSS2|protein_coding|CODING|ENST00000484354|exon_20_33470621_33470792 . . 0/1:99:255,0,237 . 20 33470773 rs140291665 G T NON_SYNONYMOUS_CODING ACSS2 MODERATE|MISSENSE|Gat/Tat|D119Y|181|ACSS2|protein_coding|CODING|ENST00000493805|exon_20_33470597_33470792 . . 0/1:99:255,0,237 . 20 33470773 rs140291665 G T NON_SYNONYMOUS_CODING ACSS2 MODERATE|MISSENSE|Gat/Tat|D119Y|202|ACSS2|protein_coding|CODING|ENST00000473172|exon_20_33470597_33470792 . . 0/1:99:255,0,237 . 20 33470773 rs140291665 G T NON_SYNONYMOUS_CODING ACSS2 MODERATE|MISSENSE|Gat/Tat|D119Y|699|ACSS2|protein_coding|CODING|ENST00000374693|exon_20_33470597_33470792 . . 0/1:99:255,0,237 . 20 33470773 rs140291665 G T NON_SYNONYMOUS_CODING ACSS2 MODERATE|MISSENSE|Gat/Tat|D119Y|701|ACSS2|protein_coding|CODING|ENST00000360596|exon_20_33470597_33470792 . . 0/1:99:255,0,237 . 20 33470773 rs140291665 G T NON_SYNONYMOUS_CODING ACSS2 MODERATE|MISSENSE|Gat/Tat|D119Y|714|ACSS2|protein_coding|CODING|ENST00000253382|exon_20_33470597_33470792 . . 0/1:99:255,0,237 . 20 33470773 rs140291665 G T NON_SYNONYMOUS_CODING ACSS2 MODERATE|MISSENSE|Gat/Tat|D69Y|162|ACSS2|protein_coding|CODING|ENST00000488172|exon_20_33470597_33470792 . . 0/1:99:255,0,237 . 20 33470773 rs140291665 G T NON_SYNONYMOUS_CODING ACSS2 MODERATE|MISSENSE|Gat/Tat|D69Y|651|ACSS2|protein_coding|CODING|ENST00000336325|exon_20_33470597_33470792 . . 0/1:99:255,0,237 . 20 33714149 . G A NON_SYNONYMOUS_CODING EDEM2 MODERATE|MISSENSE|Cgc/Tgc|R16C|302|EDEM2|protein_coding|CODING|ENST00000542871|exon_20_33714054_33714178 . . 0/1:99:139,0,255 . 20 33714149 . G A NON_SYNONYMOUS_CODING EDEM2 MODERATE|MISSENSE|Cgc/Tgc|R251C|404|EDEM2|protein_coding|CODING|ENST00000540582|exon_20_33714054_33714178 . . 0/1:99:139,0,255 . 20 33714149 . G A NON_SYNONYMOUS_CODING EDEM2 MODERATE|MISSENSE|Cgc/Tgc|R255C|541|EDEM2|protein_coding|CODING|ENST00000374491|exon_20_33714054_33714178 . . 0/1:99:139,0,255 . 20 33714149 . G A NON_SYNONYMOUS_CODING EDEM2 MODERATE|MISSENSE|Cgc/Tgc|R292C|578|EDEM2|protein_coding|CODING|ENST00000374492|exon_20_33714054_33714178 . . 0/1:99:139,0,255 . 20 33714149 . G A NON_SYNONYMOUS_CODING EDEM2 MODERATE|MISSENSE|Cgc/Tgc|R71C|357|EDEM2|protein_coding|CODING|ENST00000541621|exon_20_33714054_33714178 . . 0/1:99:139,0,255 . 20 34022672 rs224332 C A NON_SYNONYMOUS_CODING GDF5OS MODERATE|MISSENSE|cCg/cAg|P239Q|250|GDF5OS|protein_coding|CODING|ENST00000374375|exon_20_34021650_34023248 0/1:99:245,0,255 . . . 20 34078517 rs140439099 G A NON_SYNONYMOUS_CODING CEP250 MODERATE|MISSENSE|Gaa/Aaa|E881K|2442|CEP250|protein_coding|CODING|ENST00000397527|exon_20_34078463_34078630 . . 0/1:99:255,0,255 . 20 34092213 rs61729988 G A NON_SYNONYMOUS_CODING CEP250 MODERATE|MISSENSE|Gat/Aat|D1950N|2386|CEP250|protein_coding|CODING|ENST00000342580|exon_20_34090218_34092833 . . 0/1:99:175,0,243 . 20 34092213 rs61729988 G A NON_SYNONYMOUS_CODING CEP250 MODERATE|MISSENSE|Gat/Aat|D2006N|2442|CEP250|protein_coding|CODING|ENST00000397527|exon_20_34090218_34092833 . . 0/1:99:175,0,243 . 20 34092213 rs61729988 G A NON_SYNONYMOUS_CODING CEP250 MODERATE|MISSENSE|Gat/Aat|D494N|877|CEP250|protein_coding|CODING|ENST00000422671|exon_20_34090734_34092833 . . 0/1:99:175,0,243 . 20 34207531 . T A NON_SYNONYMOUS_CODING SPAG4 MODERATE|MISSENSE|Ttt/Att|F189I|213|SPAG4|protein_coding|CODING|ENST00000454819|exon_20_34207501_34207610 0/1:99:197,0,115 . . . 20 34207531 . T A NON_SYNONYMOUS_CODING SPAG4 MODERATE|MISSENSE|Ttt/Att|F314I|437|SPAG4|protein_coding|CODING|ENST00000374273|exon_20_34207501_34207668 0/1:99:197,0,115 . . . 20 34207531 . T A NON_SYNONYMOUS_CODING SPAG4 MODERATE|MISSENSE|Ttt/Att|F9I|141|SPAG4|protein_coding|CODING|ENST00000430878|exon_20_34207507_34207668 0/1:99:197,0,115 . . . 20 34214173 rs11543239 G A NON_SYNONYMOUS_CODING CPNE1 MODERATE|MISSENSE|cCc/cTc|P479L|481|CPNE1|protein_coding|CODING|ENST00000397442|exon_20_34213988_34214303 0/1:99:254,0,219 . . . 20 34214173 rs11543239 G A NON_SYNONYMOUS_CODING CPNE1 MODERATE|MISSENSE|cCc/cTc|P535L|537|CPNE1|protein_coding|CODING|ENST00000317619|exon_20_34213968_34214303 0/1:99:254,0,219 . . . 20 34214173 rs11543239 G A NON_SYNONYMOUS_CODING CPNE1 MODERATE|MISSENSE|cCc/cTc|P535L|537|CPNE1|protein_coding|CODING|ENST00000352393|exon_20_34213953_34214303 0/1:99:254,0,219 . . . 20 34214173 rs11543239 G A NON_SYNONYMOUS_CODING CPNE1 MODERATE|MISSENSE|cCc/cTc|P535L|537|CPNE1|protein_coding|CODING|ENST00000397443|exon_20_34213968_34214303 0/1:99:254,0,219 . . . 20 34214173 rs11543239 G A NON_SYNONYMOUS_CODING CPNE1 MODERATE|MISSENSE|cCc/cTc|P535L|537|CPNE1|protein_coding|CODING|ENST00000397445|exon_20_34213968_34214303 0/1:99:254,0,219 . . . 20 34214173 rs11543239 G A NON_SYNONYMOUS_CODING CPNE1 MODERATE|MISSENSE|cCc/cTc|P535L|537|CPNE1|protein_coding|CODING|ENST00000397446|exon_20_34213968_34214303 0/1:99:254,0,219 . . . 20 34214173 rs11543239 G A NON_SYNONYMOUS_CODING CPNE1 MODERATE|MISSENSE|cCc/cTc|P540L|542|CPNE1|protein_coding|CODING|ENST00000317677|exon_20_34213966_34214303 0/1:99:254,0,219 . . . 20 34218673 rs12481228 G C NON_SYNONYMOUS_CODING CPNE1 MODERATE|MISSENSE|cCt/cGt|P323R|385|CPNE1|protein_coding|CODING|ENST00000430570|exon_20_34218663_34218717 0/1:99:255,0,255 . . . 20 34218673 rs12481228 G C NON_SYNONYMOUS_CODING CPNE1 MODERATE|MISSENSE|cCt/cGt|P347R|481|CPNE1|protein_coding|CODING|ENST00000397442|exon_20_34218663_34218717 0/1:99:255,0,255 . . . 20 34218673 rs12481228 G C NON_SYNONYMOUS_CODING CPNE1 MODERATE|MISSENSE|cCt/cGt|P347R|532|CPNE1|protein_coding|CODING|ENST00000437340|exon_20_34218663_34218717 0/1:99:255,0,255 . . . 20 34218673 rs12481228 G C NON_SYNONYMOUS_CODING CPNE1 MODERATE|MISSENSE|cCt/cGt|P347R|537|CPNE1|protein_coding|CODING|ENST00000317619|exon_20_34218663_34218717 0/1:99:255,0,255 . . . 20 34218673 rs12481228 G C NON_SYNONYMOUS_CODING CPNE1 MODERATE|MISSENSE|cCt/cGt|P347R|537|CPNE1|protein_coding|CODING|ENST00000352393|exon_20_34218663_34218717 0/1:99:255,0,255 . . . 20 34218673 rs12481228 G C NON_SYNONYMOUS_CODING CPNE1 MODERATE|MISSENSE|cCt/cGt|P347R|537|CPNE1|protein_coding|CODING|ENST00000397443|exon_20_34218663_34218717 0/1:99:255,0,255 . . . 20 34218673 rs12481228 G C NON_SYNONYMOUS_CODING CPNE1 MODERATE|MISSENSE|cCt/cGt|P347R|537|CPNE1|protein_coding|CODING|ENST00000397445|exon_20_34218663_34218717 0/1:99:255,0,255 . . . 20 34218673 rs12481228 G C NON_SYNONYMOUS_CODING CPNE1 MODERATE|MISSENSE|cCt/cGt|P347R|537|CPNE1|protein_coding|CODING|ENST00000397446|exon_20_34218663_34218717 0/1:99:255,0,255 . . . 20 34218673 rs12481228 G C NON_SYNONYMOUS_CODING CPNE1 MODERATE|MISSENSE|cCt/cGt|P352R|542|CPNE1|protein_coding|CODING|ENST00000317677|exon_20_34218663_34218717 0/1:99:255,0,255 . . . 20 34219496 rs6579255 T C NON_SYNONYMOUS_CODING CPNE1 MODERATE|MISSENSE|cAa/cGa|Q187R|212|CPNE1|protein_coding|CODING|ENST00000416778|exon_20_34219416_34219500 1/1:99:255,60,0 . . . 20 34219496 rs6579255 T C NON_SYNONYMOUS_CODING CPNE1 MODERATE|MISSENSE|cAa/cGa|Q187R|304|CPNE1|protein_coding|CODING|ENST00000412056|exon_20_34219414_34219500 1/1:99:255,60,0 . . . 20 34219496 rs6579255 T C NON_SYNONYMOUS_CODING CPNE1 MODERATE|MISSENSE|cAa/cGa|Q187R|385|CPNE1|protein_coding|CODING|ENST00000430570|exon_20_34219414_34219500 1/1:99:255,60,0 . . . 20 34219496 rs6579255 T C NON_SYNONYMOUS_CODING CPNE1 MODERATE|MISSENSE|cAa/cGa|Q211R|230|CPNE1|protein_coding|CODING|ENST00000439806|exon_20_34219434_34219500 1/1:99:255,60,0 . . . 20 34219496 rs6579255 T C NON_SYNONYMOUS_CODING CPNE1 MODERATE|MISSENSE|cAa/cGa|Q211R|303|CPNE1|protein_coding|CODING|ENST00000414664|exon_20_34219414_34219500 1/1:99:255,60,0 . . . 20 34219496 rs6579255 T C NON_SYNONYMOUS_CODING CPNE1 MODERATE|MISSENSE|cAa/cGa|Q211R|481|CPNE1|protein_coding|CODING|ENST00000397442|exon_20_34219414_34219500 1/1:99:255,60,0 . . . 20 34219496 rs6579255 T C NON_SYNONYMOUS_CODING CPNE1 MODERATE|MISSENSE|cAa/cGa|Q211R|532|CPNE1|protein_coding|CODING|ENST00000437340|exon_20_34219414_34219500 1/1:99:255,60,0 . . . 20 34219496 rs6579255 T C NON_SYNONYMOUS_CODING CPNE1 MODERATE|MISSENSE|cAa/cGa|Q211R|537|CPNE1|protein_coding|CODING|ENST00000317619|exon_20_34219414_34219500 1/1:99:255,60,0 . . . 20 34219496 rs6579255 T C NON_SYNONYMOUS_CODING CPNE1 MODERATE|MISSENSE|cAa/cGa|Q211R|537|CPNE1|protein_coding|CODING|ENST00000352393|exon_20_34219414_34219500 1/1:99:255,60,0 . . . 20 34219496 rs6579255 T C NON_SYNONYMOUS_CODING CPNE1 MODERATE|MISSENSE|cAa/cGa|Q211R|537|CPNE1|protein_coding|CODING|ENST00000397443|exon_20_34219414_34219500 1/1:99:255,60,0 . . . 20 34219496 rs6579255 T C NON_SYNONYMOUS_CODING CPNE1 MODERATE|MISSENSE|cAa/cGa|Q211R|537|CPNE1|protein_coding|CODING|ENST00000397445|exon_20_34219414_34219500 1/1:99:255,60,0 . . . 20 34219496 rs6579255 T C NON_SYNONYMOUS_CODING CPNE1 MODERATE|MISSENSE|cAa/cGa|Q211R|537|CPNE1|protein_coding|CODING|ENST00000397446|exon_20_34219414_34219500 1/1:99:255,60,0 . . . 20 34219496 rs6579255 T C NON_SYNONYMOUS_CODING CPNE1 MODERATE|MISSENSE|cAa/cGa|Q216R|542|CPNE1|protein_coding|CODING|ENST00000317677|exon_20_34219414_34219500 1/1:99:255,60,0 . . . 20 34220755 rs11543244 C T NON_SYNONYMOUS_CODING CPNE1 MODERATE|MISSENSE|Gtc/Atc|V31I|135|CPNE1|protein_coding|CODING|ENST00000414711|exon_20_34220717_34220845 0/1:99:142,0,255 . . . 20 34220755 rs11543244 C T NON_SYNONYMOUS_CODING CPNE1 MODERATE|MISSENSE|Gtc/Atc|V31I|136|CPNE1|protein_coding|CODING|ENST00000458038|exon_20_34220717_34220845 0/1:99:142,0,255 . . . 20 34220755 rs11543244 C T NON_SYNONYMOUS_CODING CPNE1 MODERATE|MISSENSE|Gtc/Atc|V31I|151|CPNE1|protein_coding|CODING|ENST00000437100|exon_20_34220717_34220845 0/1:99:142,0,255 . . . 20 34220755 rs11543244 C T NON_SYNONYMOUS_CODING CPNE1 MODERATE|MISSENSE|Gtc/Atc|V31I|173|CPNE1|protein_coding|CODING|ENST00000440240|exon_20_34220717_34220845 0/1:99:142,0,255 . . . 20 34220755 rs11543244 C T NON_SYNONYMOUS_CODING CPNE1 MODERATE|MISSENSE|Gtc/Atc|V31I|200|CPNE1|protein_coding|CODING|ENST00000434795|exon_20_34220717_34220845 0/1:99:142,0,255 . . . 20 34220755 rs11543244 C T NON_SYNONYMOUS_CODING CPNE1 MODERATE|MISSENSE|Gtc/Atc|V31I|208|CPNE1|protein_coding|CODING|ENST00000420363|exon_20_34220717_34220845 0/1:99:142,0,255 . . . 20 34220755 rs11543244 C T NON_SYNONYMOUS_CODING CPNE1 MODERATE|MISSENSE|Gtc/Atc|V31I|212|CPNE1|protein_coding|CODING|ENST00000416778|exon_20_34220717_34220845 0/1:99:142,0,255 . . . 20 34220755 rs11543244 C T NON_SYNONYMOUS_CODING CPNE1 MODERATE|MISSENSE|Gtc/Atc|V31I|230|CPNE1|protein_coding|CODING|ENST00000439806|exon_20_34220717_34220845 0/1:99:142,0,255 . . . 20 34220755 rs11543244 C T NON_SYNONYMOUS_CODING CPNE1 MODERATE|MISSENSE|Gtc/Atc|V31I|303|CPNE1|protein_coding|CODING|ENST00000414664|exon_20_34220717_34220845 0/1:99:142,0,255 . . . 20 34220755 rs11543244 C T NON_SYNONYMOUS_CODING CPNE1 MODERATE|MISSENSE|Gtc/Atc|V31I|304|CPNE1|protein_coding|CODING|ENST00000412056|exon_20_34220717_34220845 0/1:99:142,0,255 . . . 20 34220755 rs11543244 C T NON_SYNONYMOUS_CODING CPNE1 MODERATE|MISSENSE|Gtc/Atc|V31I|385|CPNE1|protein_coding|CODING|ENST00000430570|exon_20_34220717_34220845 0/1:99:142,0,255 . . . 20 34220755 rs11543244 C T NON_SYNONYMOUS_CODING CPNE1 MODERATE|MISSENSE|Gtc/Atc|V31I|481|CPNE1|protein_coding|CODING|ENST00000397442|exon_20_34220717_34220845 0/1:99:142,0,255 . . . 20 34220755 rs11543244 C T NON_SYNONYMOUS_CODING CPNE1 MODERATE|MISSENSE|Gtc/Atc|V31I|532|CPNE1|protein_coding|CODING|ENST00000437340|exon_20_34220717_34220845 0/1:99:142,0,255 . . . 20 34220755 rs11543244 C T NON_SYNONYMOUS_CODING CPNE1 MODERATE|MISSENSE|Gtc/Atc|V31I|537|CPNE1|protein_coding|CODING|ENST00000317619|exon_20_34220717_34220845 0/1:99:142,0,255 . . . 20 34220755 rs11543244 C T NON_SYNONYMOUS_CODING CPNE1 MODERATE|MISSENSE|Gtc/Atc|V31I|537|CPNE1|protein_coding|CODING|ENST00000352393|exon_20_34220717_34220845 0/1:99:142,0,255 . . . 20 34220755 rs11543244 C T NON_SYNONYMOUS_CODING CPNE1 MODERATE|MISSENSE|Gtc/Atc|V31I|537|CPNE1|protein_coding|CODING|ENST00000397443|exon_20_34220717_34220845 0/1:99:142,0,255 . . . 20 34220755 rs11543244 C T NON_SYNONYMOUS_CODING CPNE1 MODERATE|MISSENSE|Gtc/Atc|V31I|537|CPNE1|protein_coding|CODING|ENST00000397445|exon_20_34220717_34220845 0/1:99:142,0,255 . . . 20 34220755 rs11543244 C T NON_SYNONYMOUS_CODING CPNE1 MODERATE|MISSENSE|Gtc/Atc|V31I|537|CPNE1|protein_coding|CODING|ENST00000397446|exon_20_34220717_34220845 0/1:99:142,0,255 . . . 20 34220755 rs11543244 C T NON_SYNONYMOUS_CODING CPNE1 MODERATE|MISSENSE|Gtc/Atc|V31I|65|CPNE1|protein_coding|CODING|ENST00000435747|exon_20_34220717_34220845 0/1:99:142,0,255 . . . 20 34220755 rs11543244 C T NON_SYNONYMOUS_CODING CPNE1 MODERATE|MISSENSE|Gtc/Atc|V36I|542|CPNE1|protein_coding|CODING|ENST00000317677|exon_20_34220717_34220845 0/1:99:142,0,255 . . . 20 34240740 . AGGGCCGGGGCCGGGGCCGGGGCC AGGGCCGGGGCCGGGGCCGGGGCCGGGGCC CODON_CHANGE_PLUS_CODON_INSERTION RBM12 MODERATE||cct/ccGGCCCCt|P626PAP|731|RBM12|protein_coding|CODING|ENST00000349942|exon_20_34240331_34242653 . 0/1:99:152,0,182 0/1:99:191,0,255 0/1:99:161,0,255 20 34240740 . AGGGCCGGGGCCGGGGCCGGGGCC AGGGCCGGGGCCGGGGCCGGGGCCGGGGCC CODON_CHANGE_PLUS_CODON_INSERTION RBM12 MODERATE||cct/ccGGCCCCt|P827PAP|932|RBM12|protein_coding|CODING|ENST00000359646|exon_20_34238064_34243266 . 0/1:99:152,0,182 0/1:99:191,0,255 0/1:99:161,0,255 20 34240740 . AGGGCCGGGGCCGGGGCCGGGGCC AGGGCCGGGGCCGGGGCCGGGGCCGGGGCC CODON_CHANGE_PLUS_CODON_INSERTION RBM12 MODERATE||cct/ccGGCCCCt|P827PAP|932|RBM12|protein_coding|CODING|ENST00000374104|exon_20_34238248_34243266 . 0/1:99:152,0,182 0/1:99:191,0,255 0/1:99:161,0,255 20 34240740 . AGGGCCGGGGCCGGGGCCGGGGCC AGGGCCGGGGCCGGGGCCGGGGCCGGGGCC CODON_CHANGE_PLUS_CODON_INSERTION RBM12 MODERATE||cct/ccGGCCCCt|P827PAP|932|RBM12|protein_coding|CODING|ENST00000374114|exon_20_34236847_34243266 . 0/1:99:152,0,182 0/1:99:191,0,255 0/1:99:161,0,255 20 34287564 rs150021161 G A NON_SYNONYMOUS_CODING ROMO1 MODERATE|MISSENSE|Gcc/Acc|A4T|59|ROMO1|protein_coding|CODING|ENST00000374072|exon_20_34287555_34287685 . 0/1:99:245,0,255 . . 20 34287564 rs150021161 G A NON_SYNONYMOUS_CODING ROMO1 MODERATE|MISSENSE|Gcc/Acc|A4T|79|ROMO1|protein_coding|CODING|ENST00000336695|exon_20_34287373_34287685 . 0/1:99:245,0,255 . . 20 34287564 rs150021161 G A NON_SYNONYMOUS_CODING ROMO1 MODERATE|MISSENSE|Gcc/Acc|A4T|79|ROMO1|protein_coding|CODING|ENST00000374077|exon_20_34287555_34287685 . 0/1:99:245,0,255 . . 20 34287564 rs150021161 G A NON_SYNONYMOUS_CODING ROMO1 MODERATE|MISSENSE|Gcc/Acc|A4T|79|ROMO1|protein_coding|CODING|ENST00000374078|exon_20_34287555_34287685 . 0/1:99:245,0,255 . . 20 34287564 rs150021161 G A NON_SYNONYMOUS_CODING ROMO1 MODERATE|MISSENSE|Gcc/Acc|A4T|79|ROMO1|protein_coding|CODING|ENST00000397416|exon_20_34287555_34287685 . 0/1:99:245,0,255 . . 20 34795095 . C T NON_SYNONYMOUS_CODING EPB41L1 MODERATE|MISSENSE|tCg/tTg|S607L|957|EPB41L1|protein_coding|CODING|ENST00000344237|exon_20_34793771_34795702 0/1:99:243,0,248 . . . 20 35243756 rs143750854 C T NON_SYNONYMOUS_CODING SLA2 MODERATE|MISSENSE|cGc/cAc|R135H|210|SLA2|protein_coding|CODING|ENST00000360672|exon_20_35243628_35243777 . 0/1:99:211,0,228 . . 20 35243756 rs143750854 C T NON_SYNONYMOUS_CODING SLA2 MODERATE|MISSENSE|cGc/cAc|R135H|261|SLA2|protein_coding|CODING|ENST00000262866|exon_20_35243628_35243777 . 0/1:99:211,0,228 . . 20 35441225 rs145513467 G A NON_SYNONYMOUS_CODING KIAA0889 MODERATE|MISSENSE|cCg/cTg|P383L|1264|KIAA0889|protein_coding|CODING|ENST00000456801|exon_20_35441107_35441247 . . 0/1:99:255,0,182 . 20 35441225 rs145513467 G A NON_SYNONYMOUS_CODING KIAA0889 MODERATE|MISSENSE|cCg/cTg|P542L|1016|KIAA0889|protein_coding|CODING|ENST00000279034|exon_20_35441107_35441247 . . 0/1:99:255,0,182 . 20 35441225 rs145513467 G A NON_SYNONYMOUS_CODING KIAA0889 MODERATE|MISSENSE|cCg/cTg|P542L|1423|KIAA0889|protein_coding|CODING|ENST00000357779|exon_20_35441107_35441247 . . 0/1:99:255,0,182 . 20 35441225 rs145513467 G A NON_SYNONYMOUS_CODING KIAA0889 MODERATE|MISSENSE|cCg/cTg|P780L|1661|KIAA0889|protein_coding|CODING|ENST00000237536|exon_20_35441107_35441247 . . 0/1:99:255,0,182 . 20 35731181 rs117314541 G C NON_SYNONYMOUS_CODING C20orf132 MODERATE|MISSENSE|aCt/aGt|T1013S|1042|C20orf132|protein_coding|CODING|ENST00000400441|exon_20_35731067_35731238 . 0/1:99:255,0,228 . . 20 35731181 rs117314541 G C NON_SYNONYMOUS_CODING C20orf132 MODERATE|MISSENSE|aCt/aGt|T842S|871|C20orf132|protein_coding|CODING|ENST00000217333|exon_20_35731067_35731238 . 0/1:99:255,0,228 . . 20 35749423 rs113747754 T C NON_SYNONYMOUS_CODING C20orf132 MODERATE|MISSENSE|Aca/Gca|T494A|871|C20orf132|protein_coding|CODING|ENST00000217333|exon_20_35749302_35749439 . 0/1:99:249,0,154 . . 20 35749423 rs113747754 T C NON_SYNONYMOUS_CODING C20orf132 MODERATE|MISSENSE|Aca/Gca|T651A|932|C20orf132|protein_coding|CODING|ENST00000441008|exon_20_35749302_35749439 . 0/1:99:249,0,154 . . 20 35749423 rs113747754 T C NON_SYNONYMOUS_CODING C20orf132 MODERATE|MISSENSE|Aca/Gca|T665A|1042|C20orf132|protein_coding|CODING|ENST00000400441|exon_20_35749302_35749439 . 0/1:99:249,0,154 . . 20 35796541 rs62621241 T C NON_SYNONYMOUS_CODING C20orf132 MODERATE|MISSENSE|Att/Gtt|I126V|871|C20orf132|protein_coding|CODING|ENST00000217333|exon_20_35796524_35796646 . . 0/1:99:255,0,255 . 20 35796541 rs62621241 T C NON_SYNONYMOUS_CODING C20orf132 MODERATE|MISSENSE|Att/Gtt|I197V|932|C20orf132|protein_coding|CODING|ENST00000441008|exon_20_35796524_35796646 . . 0/1:99:255,0,255 . 20 35796541 rs62621241 T C NON_SYNONYMOUS_CODING C20orf132 MODERATE|MISSENSE|Att/Gtt|I211V|1042|C20orf132|protein_coding|CODING|ENST00000400441|exon_20_35796524_35796646 . . 0/1:99:255,0,255 . 20 36640091 . C A NON_SYNONYMOUS_CODING TTI1 MODERATE|MISSENSE|Gct/Tct|A710S|1089|TTI1|protein_coding|CODING|ENST00000373447|exon_20_36639917_36642259 0/1:99:169,0,255 . . . 20 36640091 . C A NON_SYNONYMOUS_CODING TTI1 MODERATE|MISSENSE|Gct/Tct|A710S|1089|TTI1|protein_coding|CODING|ENST00000373448|exon_20_36639917_36642259 0/1:99:169,0,255 . . . 20 36640091 . C A NON_SYNONYMOUS_CODING TTI1 MODERATE|MISSENSE|Gct/Tct|A710S|1089|TTI1|protein_coding|CODING|ENST00000449821|exon_20_36639917_36642305 0/1:99:169,0,255 . . . 20 36956026 rs5741809 A G NON_SYNONYMOUS_CODING BPI MODERATE|MISSENSE|Aac/Gac|N404D|487|BPI|protein_coding|CODING|ENST00000262865|exon_20_36955990_36956057 0/1:99:182,0,167 . . . 20 36982754 rs36015492 G A NON_SYNONYMOUS_CODING LBP MODERATE|MISSENSE|Gag/Aag|E147K|477|LBP|protein_coding|CODING|ENST00000538599|exon_20_36982684_36982839 . . . 0/1:99:255,0,224 20 36982754 rs36015492 G A NON_SYNONYMOUS_CODING LBP MODERATE|MISSENSE|Gag/Aag|E147K|481|LBP|protein_coding|CODING|ENST00000217407|exon_20_36982684_36982839 . . . 0/1:99:255,0,224 20 36993333 rs2232607 A G NON_SYNONYMOUS_CODING LBP MODERATE|MISSENSE|gAt/gGt|D283G|477|LBP|protein_coding|CODING|ENST00000538599|exon_20_36993230_36993406 . . 0/1:99:232,0,255 . 20 36993333 rs2232607 A G NON_SYNONYMOUS_CODING LBP MODERATE|MISSENSE|gAt/gGt|D283G|481|LBP|protein_coding|CODING|ENST00000217407|exon_20_36993230_36993406 . . 0/1:99:232,0,255 . 20 37182601 rs191362414 A G NON_SYNONYMOUS_CODING RALGAPB MODERATE|MISSENSE|cAg/cGg|Q1081R|1491|RALGAPB|protein_coding|CODING|ENST00000397042|exon_20_37182510_37182719 0/1:99:182,0,255 . . . 20 37182601 rs191362414 A G NON_SYNONYMOUS_CODING RALGAPB MODERATE|MISSENSE|cAg/cGg|Q1085R|1494|RALGAPB|protein_coding|CODING|ENST00000262879|exon_20_37182510_37182719 0/1:99:182,0,255 . . . 20 37182601 rs191362414 A G NON_SYNONYMOUS_CODING RALGAPB MODERATE|MISSENSE|cAg/cGg|Q1085R|1494|RALGAPB|protein_coding|CODING|ENST00000397040|exon_20_37182510_37182719 0/1:99:182,0,255 . . . 20 37182601 rs191362414 A G NON_SYNONYMOUS_CODING RALGAPB MODERATE|MISSENSE|cAg/cGg|Q863R|1273|RALGAPB|protein_coding|CODING|ENST00000397038|exon_20_37182510_37182719 0/1:99:182,0,255 . . . 20 37182601 rs191362414 A G NON_SYNONYMOUS_CODING RALGAPB MODERATE|MISSENSE|cAg/cGg|Q913R|1323|RALGAPB|protein_coding|CODING|ENST00000438490|exon_20_37182510_37182719 0/1:99:182,0,255 . . . 20 37555322 . CGCGGCGGCGGCGGCGGCGGC CGCGGCGGCGGCGGCGGCGGCGGC CODON_CHANGE_PLUS_CODON_INSERTION FAM83D MODERATE||gcc/gcGGCc|A116AA|615|FAM83D|protein_coding|CODING|ENST00000217429|exon_20_37554955_37555568 . . . 0/1:78:75,0,255 20 37555322 . CGCGGCGGCGGCGGCGGCGGC CGCGGCGGCGGCGGCGGCGGCGGC CODON_CHANGE_PLUS_CODON_INSERTION FAM83D MODERATE||gcc/gcGGCc|A86AA|569|FAM83D|protein_coding|CODING|ENST00000424027|exon_20_37555086_37555451 . . . 0/1:78:75,0,255 20 39981502 rs150225334 C A NON_SYNONYMOUS_CODING LPIN3 MODERATE|MISSENSE|Ccc/Acc|P172T|412|LPIN3|protein_coding|CODING|ENST00000373259|exon_20_39981438_39981507 . . 0/1:99:189,0,255 . 20 39981502 rs150225334 C A NON_SYNONYMOUS_CODING LPIN3 MODERATE|MISSENSE|Ccc/Acc|P508T|851|LPIN3|protein_coding|CODING|ENST00000373257|exon_20_39981438_39981507 . . 0/1:99:189,0,255 . 20 42194989 rs33969356 T A NON_SYNONYMOUS_CODING SGK2 MODERATE|MISSENSE|Tca/Aca|S12T|393|SGK2|protein_coding|CODING|ENST00000426287|exon_20_42194956_42195010 . . 0/1:99:187,0,255 . 20 42194989 rs33969356 T A NON_SYNONYMOUS_CODING SGK2 MODERATE|MISSENSE|Tca/Aca|S12T|427|SGK2|protein_coding|CODING|ENST00000341458|exon_20_42194737_42195171 . . 0/1:99:187,0,255 . 20 42331457 rs2070235 A G NON_SYNONYMOUS_CODING MYBL2 MODERATE|MISSENSE|Agc/Ggc|S403G|676|MYBL2|protein_coding|CODING|ENST00000396863|exon_20_42331130_42331543 1/1:99:255,87,0 . . . 20 42331457 rs2070235 A G NON_SYNONYMOUS_CODING MYBL2 MODERATE|MISSENSE|Agc/Ggc|S427G|700|MYBL2|protein_coding|CODING|ENST00000217026|exon_20_42331130_42331543 1/1:99:255,87,0 . . . 20 42355169 rs17826038 G C NON_SYNONYMOUS_CODING GTSF1L MODERATE|MISSENSE|Ctg/Gtg|L56V|123|GTSF1L|protein_coding|CODING|ENST00000373005|exon_20_42355056_42355337 . . 0/1:99:255,0,221 . 20 42355169 rs17826038 G C NON_SYNONYMOUS_CODING GTSF1L MODERATE|MISSENSE|Ctg/Gtg|L56V|148|GTSF1L|protein_coding|CODING|ENST00000373003|exon_20_42354804_42355638 . . 0/1:99:255,0,221 . 20 42679955 rs41279272 A G NON_SYNONYMOUS_CODING TOX2 MODERATE|MISSENSE|Atg/Gtg|M141V|506|TOX2|protein_coding|CODING|ENST00000341197|exon_20_42679946_42680185 0/1:99:210,0,229 . . . 20 42679955 rs41279272 A G NON_SYNONYMOUS_CODING TOX2 MODERATE|MISSENSE|Atg/Gtg|M150V|488|TOX2|protein_coding|CODING|ENST00000358131|exon_20_42679946_42680185 0/1:99:210,0,229 . . . 20 42679955 rs41279272 A G NON_SYNONYMOUS_CODING TOX2 MODERATE|MISSENSE|Atg/Gtg|M19V|384|TOX2|protein_coding|CODING|ENST00000435864|exon_20_42679946_42680185 0/1:99:210,0,229 . . . 20 42679955 rs41279272 A G NON_SYNONYMOUS_CODING TOX2 MODERATE|MISSENSE|Atg/Gtg|M99V|176|TOX2|protein_coding|CODING|ENST00000442881|exon_20_42679946_42680185 0/1:99:210,0,229 . . . 20 42679955 rs41279272 A G NON_SYNONYMOUS_CODING TOX2 MODERATE|MISSENSE|Atg/Gtg|M99V|464|TOX2|protein_coding|CODING|ENST00000372999|exon_20_42679946_42680185 0/1:99:210,0,229 . . . 20 42679955 rs41279272 A G NON_SYNONYMOUS_CODING TOX2 MODERATE|MISSENSE|Atg/Gtg|M99V|464|TOX2|protein_coding|CODING|ENST00000423191|exon_20_42679946_42680185 0/1:99:210,0,229 . . . 20 43851987 . C A NON_SYNONYMOUS_CODING SEMG2 MODERATE|MISSENSE|Caa/Aaa|Q572K|582|SEMG2|protein_coding|CODING|ENST00000372769|exon_20_43850350_43852066 . . . 0/1:99:255,0,253 20 44003785 rs2231623 G A NON_SYNONYMOUS_CODING TP53TG5 MODERATE|MISSENSE|cCg/cTg|P205L|274|TP53TG5|protein_coding|CODING|ENST00000537995|exon_20_44003679_44004192 0/1:99:255,0,142 . . . 20 44003785 rs2231623 G A NON_SYNONYMOUS_CODING TP53TG5 MODERATE|MISSENSE|cCg/cTg|P221L|290|TP53TG5|protein_coding|CODING|ENST00000372726|exon_20_44003679_44004192 0/1:99:255,0,142 . . . 20 44259622 rs142019313 A G NON_SYNONYMOUS_CODING WFDC10A MODERATE|MISSENSE|Acc/Gcc|T69A|79|WFDC10A|protein_coding|CODING|ENST00000372643|exon_20_44259509_44259835 0/1:99:255,0,255 . . . 20 44587926 rs41305805 A C NON_SYNONYMOUS_CODING ZNF335 MODERATE|MISSENSE|Ttc/Gtc|F500V|1119|ZNF335|protein_coding|CODING|ENST00000243961|exon_20_44587840_44588072 . 0/1:99:255,0,219 . . 20 44587926 rs41305805 A C NON_SYNONYMOUS_CODING ZNF335 MODERATE|MISSENSE|Ttc/Gtc|F568V|1187|ZNF335|protein_coding|CODING|ENST00000426788|exon_20_44587840_44588072 . 0/1:99:255,0,219 . . 20 44587926 rs41305805 A C NON_SYNONYMOUS_CODING ZNF335 MODERATE|MISSENSE|Ttc/Gtc|F723V|1342|ZNF335|protein_coding|CODING|ENST00000322927|exon_20_44587840_44588072 . 0/1:99:255,0,219 . . 20 45221055 rs141554970 C G NON_SYNONYMOUS_CODING SLC13A3 MODERATE|MISSENSE|gGa/gCa|G216A|301|SLC13A3|protein_coding|CODING|ENST00000420568|exon_20_45221043_45221085 . . 0/1:99:189,0,255 . 20 45221055 rs141554970 C G NON_SYNONYMOUS_CODING SLC13A3 MODERATE|MISSENSE|gGa/gCa|G253A|338|SLC13A3|protein_coding|CODING|ENST00000372121|exon_20_45221043_45221085 . . 0/1:99:189,0,255 . 20 45221055 rs141554970 C G NON_SYNONYMOUS_CODING SLC13A3 MODERATE|MISSENSE|gGa/gCa|G253A|552|SLC13A3|protein_coding|CODING|ENST00000413164|exon_20_45221043_45221085 . . 0/1:99:189,0,255 . 20 45221055 rs141554970 C G NON_SYNONYMOUS_CODING SLC13A3 MODERATE|MISSENSE|gGa/gCa|G256A|407|SLC13A3|protein_coding|CODING|ENST00000468915|exon_20_45221043_45221168 . . 0/1:99:189,0,255 . 20 45221055 rs141554970 C G NON_SYNONYMOUS_CODING SLC13A3 MODERATE|MISSENSE|gGa/gCa|G256A|520|SLC13A3|protein_coding|CODING|ENST00000396360|exon_20_45221043_45221168 . . 0/1:99:189,0,255 . 20 45221055 rs141554970 C G NON_SYNONYMOUS_CODING SLC13A3 MODERATE|MISSENSE|gGa/gCa|G256A|520|SLC13A3|protein_coding|CODING|ENST00000472148|exon_20_45221043_45221168 . . 0/1:99:189,0,255 . 20 45221055 rs141554970 C G NON_SYNONYMOUS_CODING SLC13A3 MODERATE|MISSENSE|gGa/gCa|G256A|555|SLC13A3|protein_coding|CODING|ENST00000290317|exon_20_45221043_45221168 . . 0/1:99:189,0,255 . 20 45221055 rs141554970 C G NON_SYNONYMOUS_CODING SLC13A3 MODERATE|MISSENSE|gGa/gCa|G256A|555|SLC13A3|protein_coding|CODING|ENST00000495082|exon_20_45221043_45221168 . . 0/1:99:189,0,255 . 20 45221055 rs141554970 C G NON_SYNONYMOUS_CODING SLC13A3 MODERATE|MISSENSE|gGa/gCa|G303A|602|SLC13A3|protein_coding|CODING|ENST00000279027|exon_20_45221043_45221168 . . 0/1:99:189,0,255 . 20 45315769 rs11550540 T C NON_SYNONYMOUS_CODING TP53RK MODERATE|MISSENSE|Act/Gct|T129A|253|TP53RK|protein_coding|CODING|ENST00000372114|exon_20_45313004_45315870 . . 0/1:99:255,0,255 0/1:99:255,0,188 20 45354291 rs2235491 G A NON_SYNONYMOUS_CODING SLC2A10 MODERATE|MISSENSE|Gcc/Acc|A206T|541|SLC2A10|protein_coding|CODING|ENST00000359271|exon_20_45353680_45354963 0/1:99:221,0,166 . . . 20 46256424 rs6094752 C T NON_SYNONYMOUS_CODING NCOA3 MODERATE|MISSENSE|Cgc/Tgc|R218C|1350|NCOA3|protein_coding|CODING|ENST00000341724|exon_20_46256305_46256493 . 0/1:99:255,0,255 . . 20 46256424 rs6094752 C T NON_SYNONYMOUS_CODING NCOA3 MODERATE|MISSENSE|Cgc/Tgc|R218C|1415|NCOA3|protein_coding|CODING|ENST00000371997|exon_20_46256305_46256493 . 0/1:99:255,0,255 . . 20 46256424 rs6094752 C T NON_SYNONYMOUS_CODING NCOA3 MODERATE|MISSENSE|Cgc/Tgc|R218C|1420|NCOA3|protein_coding|CODING|ENST00000340189|exon_20_46256305_46256493 . 0/1:99:255,0,255 . . 20 46256424 rs6094752 C T NON_SYNONYMOUS_CODING NCOA3 MODERATE|MISSENSE|Cgc/Tgc|R218C|1420|NCOA3|protein_coding|CODING|ENST00000372004|exon_20_46256305_46256493 . 0/1:99:255,0,255 . . 20 46256424 rs6094752 C T NON_SYNONYMOUS_CODING NCOA3 MODERATE|MISSENSE|Cgc/Tgc|R218C|1424|NCOA3|protein_coding|CODING|ENST00000371998|exon_20_46256305_46256493 . 0/1:99:255,0,255 . . 20 46264888 rs2230782 G C NON_SYNONYMOUS_CODING NCOA3 MODERATE|MISSENSE|caG/caC|Q586H|1420|NCOA3|protein_coding|CODING|ENST00000340189|exon_20_46264635_46265506 . . 0/1:99:255,0,179 . 20 46264888 rs2230782 G C NON_SYNONYMOUS_CODING NCOA3 MODERATE|MISSENSE|caG/caC|Q586H|1420|NCOA3|protein_coding|CODING|ENST00000372004|exon_20_46264635_46265506 . . 0/1:99:255,0,179 . 20 46264888 rs2230782 G C NON_SYNONYMOUS_CODING NCOA3 MODERATE|MISSENSE|caG/caC|Q586H|1424|NCOA3|protein_coding|CODING|ENST00000371998|exon_20_46264635_46265506 . . 0/1:99:255,0,179 . 20 46264888 rs2230782 G C NON_SYNONYMOUS_CODING NCOA3 MODERATE|MISSENSE|caG/caC|Q596H|1350|NCOA3|protein_coding|CODING|ENST00000341724|exon_20_46264635_46265506 . . 0/1:99:255,0,179 . 20 46264888 rs2230782 G C NON_SYNONYMOUS_CODING NCOA3 MODERATE|MISSENSE|caG/caC|Q596H|1415|NCOA3|protein_coding|CODING|ENST00000371997|exon_20_46264635_46265506 . . 0/1:99:255,0,179 . 20 46279814 . TGCAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCAGCAGCAGCAGCAGCA TGCAGCAGCAGCAACAGCAGCAGCAGCAGCAGCAGCAGCAGCA CODON_CHANGE_PLUS_CODON_DELETION NCOA3 MODERATE||cagcagcagcaa/caa|QQQQ1177Q|1350|NCOA3|protein_coding|CODING|ENST00000341724|exon_20_46279726_46280020 0/1:99:170,0,255 . . . 20 46279814 . TGCAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCAGCAGCAGCAGCAGCA TGCAGCAGCAGCAACAGCAGCAGCAGCAGCAGCAGCAGCAGCA CODON_CHANGE_PLUS_CODON_DELETION NCOA3 MODERATE||cagcagcagcaa/caa|QQQQ1242Q|1415|NCOA3|protein_coding|CODING|ENST00000371997|exon_20_46279726_46280020 0/1:99:170,0,255 . . . 20 46279814 . TGCAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCAGCAGCAGCAGCAGCA TGCAGCAGCAGCAACAGCAGCAGCAGCAGCAGCAGCAGCAGCA CODON_CHANGE_PLUS_CODON_DELETION NCOA3 MODERATE||cagcagcagcaa/caa|QQQQ1247Q|1420|NCOA3|protein_coding|CODING|ENST00000340189|exon_20_46279726_46280020 0/1:99:170,0,255 . . . 20 46279814 . TGCAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCAGCAGCAGCAGCAGCA TGCAGCAGCAGCAACAGCAGCAGCAGCAGCAGCAGCAGCAGCA CODON_CHANGE_PLUS_CODON_DELETION NCOA3 MODERATE||cagcagcagcaa/caa|QQQQ1247Q|1420|NCOA3|protein_coding|CODING|ENST00000372004|exon_20_46279726_46280020 0/1:99:170,0,255 . . . 20 46279814 . TGCAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCAGCAGCAGCAGCAGCA TGCAGCAGCAGCAACAGCAGCAGCAGCAGCAGCAGCAGCAGCA CODON_CHANGE_PLUS_CODON_DELETION NCOA3 MODERATE||cagcagcagcaa/caa|QQQQ1251Q|1424|NCOA3|protein_coding|CODING|ENST00000371998|exon_20_46279726_46280020 0/1:99:170,0,255 . . . 20 47246077 rs3936192 C G NON_SYNONYMOUS_CODING PREX1 MODERATE|MISSENSE|aGt/aCt|S1559T|1659|PREX1|protein_coding|CODING|ENST00000371941|exon_20_47245987_47246159 0/1:99:173,0,198 . . . 20 47686799 . C T NON_SYNONYMOUS_CODING CSE1L MODERATE|MISSENSE|Ctc/Ttc|L11F|569|CSE1L|protein_coding|CODING|ENST00000417408|exon_20_47686742_47686834 0/1:99:255,0,255 . . . 20 47686799 . C T NON_SYNONYMOUS_CODING CSE1L MODERATE|MISSENSE|Ctc/Ttc|L245F|915|CSE1L|protein_coding|CODING|ENST00000396192|exon_20_47686742_47686834 0/1:99:255,0,255 . . . 20 47686799 . C T NON_SYNONYMOUS_CODING CSE1L MODERATE|MISSENSE|Ctc/Ttc|L245F|971|CSE1L|protein_coding|CODING|ENST00000262982|exon_20_47686742_47686834 0/1:99:255,0,255 . . . 20 47686799 . C T NON_SYNONYMOUS_CODING CSE1L MODERATE|MISSENSE|Ctc/Ttc|L28F|754|CSE1L|protein_coding|CODING|ENST00000542325|exon_20_47686742_47686834 0/1:99:255,0,255 . . . 20 47855655 rs79925479 G T NON_SYNONYMOUS_CODING ZNFX1 MODERATE|MISSENSE|agC/agA|S1203R|1270|ZNFX1|protein_coding|CODING|ENST00000371754|exon_20_47854483_47855837 . . . 0/1:99:216,0,150 20 47864034 . G A NON_SYNONYMOUS_CODING ZNFX1 MODERATE|MISSENSE|Cgt/Tgt|R1843C|1918|ZNFX1|protein_coding|CODING|ENST00000371752|exon_20_47862434_47866248 0/1:99:190,0,254 . . . 20 47864034 . G A NON_SYNONYMOUS_CODING ZNFX1 MODERATE|MISSENSE|Cgt/Tgt|R1843C|1918|ZNFX1|protein_coding|CODING|ENST00000396105|exon_20_47862437_47866248 0/1:99:190,0,254 . . . 20 47872477 rs139411491 C T NON_SYNONYMOUS_CODING ZNFX1 MODERATE|MISSENSE|cGc/cAc|R891H|1270|ZNFX1|protein_coding|CODING|ENST00000371754|exon_20_47872345_47872484 . . 0/1:99:255,0,255 . 20 47872477 rs139411491 C T NON_SYNONYMOUS_CODING ZNFX1 MODERATE|MISSENSE|cGc/cAc|R891H|1918|ZNFX1|protein_coding|CODING|ENST00000371752|exon_20_47872345_47872484 . . 0/1:99:255,0,255 . 20 47872477 rs139411491 C T NON_SYNONYMOUS_CODING ZNFX1 MODERATE|MISSENSE|cGc/cAc|R891H|1918|ZNFX1|protein_coding|CODING|ENST00000396105|exon_20_47872345_47872484 . . 0/1:99:255,0,255 . 20 47872477 rs139411491 C T NON_SYNONYMOUS_CODING ZNFX1 MODERATE|MISSENSE|cGc/cAc|R891H|914|ZNFX1|protein_coding|CODING|ENST00000396106|exon_20_47872449_47872484 . . 0/1:99:255,0,255 . 20 47872477 rs139411491 C T NON_SYNONYMOUS_CODING ZNFX1 MODERATE|MISSENSE|cGc/cAc|R891H|933|ZNFX1|protein_coding|CODING|ENST00000371744|exon_20_47872345_47872484 . . 0/1:99:255,0,255 . 20 47886695 . C T NON_SYNONYMOUS_CODING ZNFX1 MODERATE|MISSENSE|Ggg/Agg|G356R|706|ZNFX1|protein_coding|CODING|ENST00000455070|exon_20_47886479_47887760 0/1:99:255,0,253 . . . 20 47886695 . C T NON_SYNONYMOUS_CODING ZNFX1 MODERATE|MISSENSE|Ggg/Agg|G552R|1270|ZNFX1|protein_coding|CODING|ENST00000371754|exon_20_47886479_47888287 0/1:99:255,0,253 . . . 20 47886695 . C T NON_SYNONYMOUS_CODING ZNFX1 MODERATE|MISSENSE|Ggg/Agg|G552R|1918|ZNFX1|protein_coding|CODING|ENST00000371752|exon_20_47886479_47888287 0/1:99:255,0,253 . . . 20 47886695 . C T NON_SYNONYMOUS_CODING ZNFX1 MODERATE|MISSENSE|Ggg/Agg|G552R|1918|ZNFX1|protein_coding|CODING|ENST00000396105|exon_20_47886479_47888287 0/1:99:255,0,253 . . . 20 47886695 . C T NON_SYNONYMOUS_CODING ZNFX1 MODERATE|MISSENSE|Ggg/Agg|G552R|914|ZNFX1|protein_coding|CODING|ENST00000396106|exon_20_47886479_47888287 0/1:99:255,0,253 . . . 20 47886695 . C T NON_SYNONYMOUS_CODING ZNFX1 MODERATE|MISSENSE|Ggg/Agg|G552R|933|ZNFX1|protein_coding|CODING|ENST00000371744|exon_20_47886479_47888287 0/1:99:255,0,253 . . . 20 48127584 rs146531327 C T NON_SYNONYMOUS_CODING PTGIS MODERATE|MISSENSE|Gcg/Acg|A447T|500|PTGIS|protein_coding|CODING|ENST00000244043|exon_20_48127565_48127716 0/1:99:210,0,255 . . . 20 49463234 rs6096125 T C NON_SYNONYMOUS_CODING BCAS4 MODERATE|MISSENSE|cTc/cCc|L176P|189|BCAS4|protein_coding|CODING|ENST00000355583|exon_20_49463197_49463277 . . . 0/1:99:158,0,105 20 49576664 rs7269297 T G NON_SYNONYMOUS_CODING MOCS3 MODERATE|MISSENSE|Tca/Gca|S429A|460|MOCS3|protein_coding|CODING|ENST00000244051|exon_20_49575363_49577820 . . . 0/1:99:241,0,204 20 50230311 . G A NON_SYNONYMOUS_CODING ATP9A MODERATE|MISSENSE|Cgg/Tgg|R690W|911|ATP9A|protein_coding|CODING|ENST00000311637|exon_20_50230216_50230371 0/1:99:224,0,253 . . . 20 50230311 . G A NON_SYNONYMOUS_CODING ATP9A MODERATE|MISSENSE|Cgg/Tgg|R705W|926|ATP9A|protein_coding|CODING|ENST00000402822|exon_20_50230216_50230371 0/1:99:224,0,253 . . . 20 50230311 . G A NON_SYNONYMOUS_CODING ATP9A MODERATE|MISSENSE|Cgg/Tgg|R826W|1047|ATP9A|protein_coding|CODING|ENST00000338821|exon_20_50230216_50230371 0/1:99:224,0,253 . . . 20 50406630 rs6091375 T G NON_SYNONYMOUS_CODING SALL4 MODERATE|MISSENSE|Atc/Ctc|I798L|1053|SALL4|protein_coding|CODING|ENST00000217086|exon_20_50406561_50408891 . . . 0/1:99:255,0,250 20 52192595 rs61748378 C T NON_SYNONYMOUS_CODING ZNF217 MODERATE|MISSENSE|cGg/cAg|R63Q|221|ZNF217|protein_coding|CODING|ENST00000395971|exon_20_52192266_52193819 . . 0/1:99:255,0,255 . 20 52192595 rs61748378 C T NON_SYNONYMOUS_CODING ZNF217 MODERATE|MISSENSE|cGg/cAg|R903Q|1048|ZNF217|protein_coding|CODING|ENST00000302342|exon_20_52192266_52193819 . . 0/1:99:255,0,255 . 20 52192595 rs61748378 C T NON_SYNONYMOUS_CODING ZNF217 MODERATE|MISSENSE|cGg/cAg|R903Q|1048|ZNF217|protein_coding|CODING|ENST00000371471|exon_20_52192266_52193819 . . 0/1:99:255,0,255 . 20 52192637 rs34323943 T C NON_SYNONYMOUS_CODING ZNF217 MODERATE|MISSENSE|gAc/gGc|D49G|221|ZNF217|protein_coding|CODING|ENST00000395971|exon_20_52192266_52193819 0/1:99:232,0,245 . 0/1:99:244,0,255 . 20 52192637 rs34323943 T C NON_SYNONYMOUS_CODING ZNF217 MODERATE|MISSENSE|gAc/gGc|D889G|1048|ZNF217|protein_coding|CODING|ENST00000302342|exon_20_52192266_52193819 0/1:99:232,0,245 . 0/1:99:244,0,255 . 20 52192637 rs34323943 T C NON_SYNONYMOUS_CODING ZNF217 MODERATE|MISSENSE|gAc/gGc|D889G|1048|ZNF217|protein_coding|CODING|ENST00000371471|exon_20_52192266_52193819 0/1:99:232,0,245 . 0/1:99:244,0,255 . 20 52193088 rs6063966 C T NON_SYNONYMOUS_CODING ZNF217 MODERATE|MISSENSE|Gtt/Att|V739I|1048|ZNF217|protein_coding|CODING|ENST00000302342|exon_20_52192266_52193819 0/1:99:241,0,230 0/1:99:233,0,255 0/1:99:255,0,248 . 20 52193088 rs6063966 C T NON_SYNONYMOUS_CODING ZNF217 MODERATE|MISSENSE|Gtt/Att|V739I|1048|ZNF217|protein_coding|CODING|ENST00000371471|exon_20_52192266_52193819 0/1:99:241,0,230 0/1:99:233,0,255 0/1:99:255,0,248 . 20 52198048 . C T NON_SYNONYMOUS_CODING ZNF217 MODERATE|MISSENSE|Ggt/Agt|G440S|1048|ZNF217|protein_coding|CODING|ENST00000302342|exon_20_52198000_52199636 . 0/1:99:205,0,209 . . 20 52198048 . C T NON_SYNONYMOUS_CODING ZNF217 MODERATE|MISSENSE|Ggt/Agt|G440S|1048|ZNF217|protein_coding|CODING|ENST00000371471|exon_20_52198000_52199707 . 0/1:99:205,0,209 . . 20 52612549 rs6022903 C T NON_SYNONYMOUS_CODING BCAS1 MODERATE|MISSENSE|gGa/gAa|G117E|476|BCAS1|protein_coding|CODING|ENST00000448484|exon_20_52612431_52612589 0/1:99:255,0,224 . . . 20 52612549 rs6022903 C T NON_SYNONYMOUS_CODING BCAS1 MODERATE|MISSENSE|gGa/gAa|G133E|384|BCAS1|protein_coding|CODING|ENST00000448710|exon_20_52612431_52612589 0/1:99:255,0,224 . . . 20 52612549 rs6022903 C T NON_SYNONYMOUS_CODING BCAS1 MODERATE|MISSENSE|gGa/gAa|G255E|506|BCAS1|protein_coding|CODING|ENST00000371435|exon_20_52612431_52612589 0/1:99:255,0,224 . . . 20 52612549 rs6022903 C T NON_SYNONYMOUS_CODING BCAS1 MODERATE|MISSENSE|gGa/gAa|G255E|584|BCAS1|protein_coding|CODING|ENST00000395961|exon_20_52612431_52612589 0/1:99:255,0,224 . . . 20 52612549 rs6022903 C T NON_SYNONYMOUS_CODING BCAS1 MODERATE|MISSENSE|gGa/gAa|G255E|614|BCAS1|protein_coding|CODING|ENST00000371440|exon_20_52612431_52612589 0/1:99:255,0,224 . . . 20 52788189 rs35051736 C T NON_SYNONYMOUS_CODING CYP24A1 MODERATE|MISSENSE|cGg/cAg|R157Q|448|CYP24A1|protein_coding|CODING|ENST00000395955|exon_20_52788116_52788209 . 0/1:99:243,0,246 . . 20 52788189 rs35051736 C T NON_SYNONYMOUS_CODING CYP24A1 MODERATE|MISSENSE|cGg/cAg|R157Q|514|CYP24A1|protein_coding|CODING|ENST00000216862|exon_20_52788116_52788209 . 0/1:99:243,0,246 . . 20 52788189 rs35051736 C T NON_SYNONYMOUS_CODING CYP24A1 MODERATE|MISSENSE|cGg/cAg|R15Q|372|CYP24A1|protein_coding|CODING|ENST00000395954|exon_20_52788116_52788492 . 0/1:99:243,0,246 . . 20 54824029 rs3827103 G A NON_SYNONYMOUS_CODING MC3R MODERATE|MISSENSE|Gtt/Att|V44I|323|MC3R|protein_coding|CODING|ENST00000243911|exon_20_54823788_54824871 0/1:99:198,0,246 . 0/1:99:221,0,255 . 20 55066633 rs3746627 T G NON_SYNONYMOUS_CODING GCNT7 MODERATE|MISSENSE|Aat/Cat|N303H|308|GCNT7|protein_coding|CODING|ENST00000243913|exon_20_55066548_55066839 0/1:99:255,0,255 . . . 20 55949922 . G T NON_SYNONYMOUS_CODING RAE1 MODERATE|MISSENSE|gGc/gTc|G362V|437|RAE1|protein_coding|CODING|ENST00000527947|exon_20_55949663_55950162 0/1:99:171,0,144 . . . 20 56071416 rs62204255 C A NON_SYNONYMOUS_CODING CTCFL MODERATE|MISSENSE|Gca/Tca|A665S|700|CTCFL|protein_coding|CODING|ENST00000423479|exon_20_56071021_56071420 . . 0/1:99:255,0,255 . 20 56078566 . T G NON_SYNONYMOUS_CODING CTCFL MODERATE|MISSENSE|cAg/cCg|Q327P|403|CTCFL|protein_coding|CODING|ENST00000502686|exon_20_56078492_56078657 0/1:99:185,0,217 . . . 20 56078566 . T G NON_SYNONYMOUS_CODING CTCFL MODERATE|MISSENSE|cAg/cCg|Q539P|613|CTCFL|protein_coding|CODING|ENST00000429804|exon_20_56078492_56078657 0/1:99:185,0,217 . . . 20 56078566 . T G NON_SYNONYMOUS_CODING CTCFL MODERATE|MISSENSE|cAg/cCg|Q589P|663|CTCFL|protein_coding|CODING|ENST00000243914|exon_20_56078492_56078657 0/1:99:185,0,217 . . . 20 56078566 . T G NON_SYNONYMOUS_CODING CTCFL MODERATE|MISSENSE|cAg/cCg|Q589P|663|CTCFL|protein_coding|CODING|ENST00000371196|exon_20_56078492_56078657 0/1:99:185,0,217 . . . 20 56078566 . T G NON_SYNONYMOUS_CODING CTCFL MODERATE|MISSENSE|cAg/cCg|Q589P|665|CTCFL|protein_coding|CODING|ENST00000433949|exon_20_56078492_56078657 0/1:99:185,0,217 . . . 20 56078566 . T G NON_SYNONYMOUS_CODING CTCFL MODERATE|MISSENSE|cAg/cCg|Q589P|700|CTCFL|protein_coding|CODING|ENST00000423479|exon_20_56078492_56078657 0/1:99:185,0,217 . . . 20 56735762 rs200564315 G A NON_SYNONYMOUS_CODING C20orf85 MODERATE|MISSENSE|Ggc/Agc|G100S|137|C20orf85|protein_coding|CODING|ENST00000371168|exon_20_56735717_56736206 0/1:99:251,0,255 . . . 20 57599402 rs6070697 G A NON_SYNONYMOUS_CODING TUBB1 MODERATE|MISSENSE|cGt/cAt|R307H|451|TUBB1|protein_coding|CODING|ENST00000217133|exon_20_57598760_57601709 . . 0/1:99:255,0,232 . 20 57768704 rs200405760 G T NON_SYNONYMOUS_CODING ZNF831 MODERATE|MISSENSE|gGc/gTc|G877V|1677|ZNF831|protein_coding|CODING|ENST00000371030|exon_20_57766075_57769812 . . . 0/1:91:151,0,88 20 58455447 rs151163205 A G NON_SYNONYMOUS_CODING SYCP2 MODERATE|MISSENSE|aTt/aCt|I951T|1022|SYCP2|protein_coding|CODING|ENST00000446834|exon_20_58455358_58455526 . 0/1:99:255,0,255 . . 20 58455447 rs151163205 A G NON_SYNONYMOUS_CODING SYCP2 MODERATE|MISSENSE|aTt/aCt|I951T|1530|SYCP2|protein_coding|CODING|ENST00000357552|exon_20_58455358_58455526 . 0/1:99:255,0,255 . . 20 58455447 rs151163205 A G NON_SYNONYMOUS_CODING SYCP2 MODERATE|MISSENSE|aTt/aCt|I951T|1530|SYCP2|protein_coding|CODING|ENST00000371001|exon_20_58455358_58455526 . 0/1:99:255,0,255 . . 20 58576432 rs41310817 A G NON_SYNONYMOUS_CODING CDH26 MODERATE|MISSENSE|cAg/cGg|Q44R|165|CDH26|protein_coding|CODING|ENST00000350849|exon_20_58576398_58576466 . 0/1:99:255,0,255 . . 20 58576432 rs41310817 A G NON_SYNONYMOUS_CODING CDH26 MODERATE|MISSENSE|cAg/cGg|Q711R|832|CDH26|protein_coding|CODING|ENST00000348616|exon_20_58576398_58576466 . 0/1:99:255,0,255 . . 20 60294004 rs139300079 G A NON_SYNONYMOUS_CODING RP11-429E11.3.1 MODERATE|MISSENSE|Cct/Tct|P75S|140|RP11-429E11.3.1|protein_coding|CODING|ENST00000317652|exon_20_60292562_60294442 . . . 0/1:99:106,0,205 20 60640461 rs113875178 A C NON_SYNONYMOUS_CODING TAF4 MODERATE|MISSENSE|Tcc/Gcc|S136A|1085|TAF4|protein_coding|CODING|ENST00000252996|exon_20_60639507_60640866 . . . 1/1:10:66,6,0 20 60640461 rs113875178 A C NON_SYNONYMOUS_CODING TAF4 MODERATE|MISSENSE|Tcc/Gcc|S32A|949|TAF4|protein_coding|CODING|ENST00000436129|exon_20_60640164_60640514 . . . 1/1:10:66,6,0 20 60768615 rs6062133 G A NON_SYNONYMOUS_CODING GTPBP5 MODERATE|MISSENSE|Ggc/Agc|G47S|232|GTPBP5|protein_coding|CODING|ENST00000448254|exon_20_60768472_60768680 . 0/1:99:156,0,255 0/1:99:210,0,255 . 20 60768615 rs6062133 G A NON_SYNONYMOUS_CODING GTPBP5 MODERATE|MISSENSE|Ggc/Agc|G47S|248|GTPBP5|protein_coding|CODING|ENST00000436421|exon_20_60768472_60768680 . 0/1:99:156,0,255 0/1:99:210,0,255 . 20 60768615 rs6062133 G A NON_SYNONYMOUS_CODING GTPBP5 MODERATE|MISSENSE|Ggc/Agc|G47S|406|GTPBP5|protein_coding|CODING|ENST00000370823|exon_20_60768472_60768680 . 0/1:99:156,0,255 0/1:99:210,0,255 . 20 60892545 rs2427282 C T NON_SYNONYMOUS_CODING LAMA5 MODERATE|MISSENSE|cGc/cAc|R2456H|3695|LAMA5|protein_coding|CODING|ENST00000252999|exon_20_60892401_60892555 . 0/1:99:174,0,221 . . 20 60899513 rs148177752 C A NON_SYNONYMOUS_CODING LAMA5 MODERATE|MISSENSE|gGc/gTc|G1876V|3695|LAMA5|protein_coding|CODING|ENST00000252999|exon_20_60899497_60899610 . . 0/1:99:207,0,255 . 20 60910124 rs79319629 T G NON_SYNONYMOUS_CODING LAMA5 MODERATE|MISSENSE|aAg/aCg|K812T|3695|LAMA5|protein_coding|CODING|ENST00000252999|exon_20_60910077_60910182 . 0/1:99:190,0,124 . . 20 60982118 rs184691263 G C NON_SYNONYMOUS_CODING CABLES2 MODERATE|MISSENSE|cCg/cGg|P72R|478|CABLES2|protein_coding|CODING|ENST00000279101|exon_20_60981971_60982341 . 0/1:50:56,0,47 . . 20 60989187 rs45514096 G T NON_SYNONYMOUS_CODING C20orf151 MODERATE|MISSENSE|gCc/gAc|A407D|664|C20orf151|protein_coding|CODING|ENST00000252998|exon_20_60988877_60989612 . . 0/1:99:176,0,255 . 20 61050570 rs113068438 T C NON_SYNONYMOUS_CODING GATA5 MODERATE|MISSENSE|cAg/cGg|Q23R|417|GATA5|protein_coding|CODING|ENST00000540404|exon_20_61050055_61050598 . . 0/1:99:201,0,155 . 20 61050570 rs113068438 T C NON_SYNONYMOUS_CODING GATA5 MODERATE|MISSENSE|cAg/cGg|Q3R|397|GATA5|protein_coding|CODING|ENST00000252997|exon_20_61050055_61050598 . . 0/1:99:201,0,155 . 20 61050570 rs113068438 T C NON_SYNONYMOUS_CODING GATA5 MODERATE|MISSENSE|cAg/cGg|Q3R|397|GATA5|protein_coding|CODING|ENST00000370545|exon_20_61050055_61050577 . . 0/1:99:201,0,155 . 20 61303250 rs76616864 C T NON_SYNONYMOUS_CODING SLCO4A1 MODERATE|MISSENSE|Cgc/Tgc|R546C|582|SLCO4A1|protein_coding|CODING|ENST00000342674|exon_20_61303220_61303363 . . . 0/1:99:162,0,243 20 61512185 rs41282984 G C NON_SYNONYMOUS_CODING DIDO1 MODERATE|MISSENSE|tCt/tGt|S1708C|2240|DIDO1|protein_coding|CODING|ENST00000266070|exon_20_61509090_61513766 0/1:99:255,0,183 . . 0/1:99:255,0,204 20 61512185 rs41282984 G C NON_SYNONYMOUS_CODING DIDO1 MODERATE|MISSENSE|tCt/tGt|S1708C|2240|DIDO1|protein_coding|CODING|ENST00000395343|exon_20_61509095_61513766 0/1:99:255,0,183 . . 0/1:99:255,0,204 20 61513649 rs6011441 G T NON_SYNONYMOUS_CODING DIDO1 MODERATE|MISSENSE|cCg/cAg|P1220Q|2240|DIDO1|protein_coding|CODING|ENST00000266070|exon_20_61509090_61513766 0/1:99:182,0,141 . . 0/1:99:242,0,246 20 61513649 rs6011441 G T NON_SYNONYMOUS_CODING DIDO1 MODERATE|MISSENSE|cCg/cAg|P1220Q|2240|DIDO1|protein_coding|CODING|ENST00000395343|exon_20_61509095_61513766 0/1:99:182,0,141 . . 0/1:99:242,0,246 20 61637928 . C T NON_SYNONYMOUS_CODING BHLHE23 MODERATE|MISSENSE|Gcg/Acg|A51T|225|BHLHE23|protein_coding|CODING|ENST00000370346|exon_20_61637331_61638387 . . . 0/1:93:166,0,90 20 61907982 rs11542296 C T NON_SYNONYMOUS_CODING ARFGAP1 MODERATE|MISSENSE|cCg/cTg|P28L|293|ARFGAP1|protein_coding|CODING|ENST00000519273|exon_20_61907832_61908003 . . . 0/1:99:120,0,190 20 61917425 rs78818145 G A NON_SYNONYMOUS_CODING ARFGAP1 MODERATE|MISSENSE|Gga/Aga|G310R|403|ARFGAP1|protein_coding|CODING|ENST00000370275|exon_20_61917332_61917570 . . . 0/1:99:113,0,168 20 61943089 rs6089877 G A NON_SYNONYMOUS_CODING COL20A1 MODERATE|MISSENSE|cGt/cAt|R551H|1284|COL20A1|protein_coding|CODING|ENST00000358894|exon_20_61942977_61943100 0/1:99:196,0,195 . . . 20 61943089 rs6089877 G A NON_SYNONYMOUS_CODING COL20A1 MODERATE|MISSENSE|cGt/cAt|R551H|1316|COL20A1|protein_coding|CODING|ENST00000326996|exon_20_61942977_61943100 0/1:99:196,0,195 . . . 20 61943089 rs6089877 G A NON_SYNONYMOUS_CODING COL20A1 MODERATE|MISSENSE|cGt/cAt|R558H|1297|COL20A1|protein_coding|CODING|ENST00000422202|exon_20_61942977_61943100 0/1:99:196,0,195 . . . 20 61943089 rs6089877 G A NON_SYNONYMOUS_CODING COL20A1 MODERATE|MISSENSE|cGt/cAt|R558H|1297|COL20A1|protein_coding|CODING|ENST00000435874|exon_20_61942977_61943100 0/1:99:196,0,195 . . . 20 61945439 rs147670144 G C NON_SYNONYMOUS_CODING COL20A1 MODERATE|MISSENSE|Gcc/Ccc|A792P|1284|COL20A1|protein_coding|CODING|ENST00000358894|exon_20_61945424_61945553 . . . 0/1:99:213,0,194 20 61945439 rs147670144 G C NON_SYNONYMOUS_CODING COL20A1 MODERATE|MISSENSE|Gcc/Ccc|A792P|1316|COL20A1|protein_coding|CODING|ENST00000326996|exon_20_61945424_61945553 . . . 0/1:99:213,0,194 20 61945439 rs147670144 G C NON_SYNONYMOUS_CODING COL20A1 MODERATE|MISSENSE|Gcc/Ccc|A799P|1297|COL20A1|protein_coding|CODING|ENST00000422202|exon_20_61945424_61945553 . . . 0/1:99:213,0,194 20 61945439 rs147670144 G C NON_SYNONYMOUS_CODING COL20A1 MODERATE|MISSENSE|Gcc/Ccc|A799P|1297|COL20A1|protein_coding|CODING|ENST00000435874|exon_20_61945424_61945553 . . . 0/1:99:213,0,194 20 62172244 rs33933649 C G NON_SYNONYMOUS_CODING SRMS MODERATE|MISSENSE|aGc/aCc|S465T|488|SRMS|protein_coding|CODING|ENST00000217188|exon_20_62172163_62172352 . 0/1:99:214,0,210 . . 20 62172269 rs310654 C A NON_SYNONYMOUS_CODING SRMS MODERATE|MISSENSE|Gtg/Ttg|V457L|488|SRMS|protein_coding|CODING|ENST00000217188|exon_20_62172163_62172352 0/1:99:224,0,102 . . . 20 62172281 rs310655 C T NON_SYNONYMOUS_CODING SRMS MODERATE|MISSENSE|Gcg/Acg|A453T|488|SRMS|protein_coding|CODING|ENST00000217188|exon_20_62172163_62172352 0/1:99:159,0,119 . . . 20 62172564 rs117389835 T C NON_SYNONYMOUS_CODING SRMS MODERATE|MISSENSE|tAt/tGt|Y422C|488|SRMS|protein_coding|CODING|ENST00000217188|exon_20_62172544_62172700 0/1:99:168,0,255 . . . 20 62173817 rs34969822 C T NON_SYNONYMOUS_CODING SRMS MODERATE|MISSENSE|Gtg/Atg|V255M|488|SRMS|protein_coding|CODING|ENST00000217188|exon_20_62173793_62173934 0/1:99:183,0,154 . . . 20 62173927 rs378483 G A NON_SYNONYMOUS_CODING SRMS MODERATE|MISSENSE|cCg/cTg|P218L|488|SRMS|protein_coding|CODING|ENST00000217188|exon_20_62173793_62173934 0/1:99:175,0,232 . . . 20 62193445 rs3810481 G A NON_SYNONYMOUS_CODING RP4-697K14.7.1 MODERATE|MISSENSE|aCg/aTg|T1601M|2080|RP4-697K14.7.1|protein_coding|CODING|ENST00000427522|exon_20_62193425_62193556 1/1:99:250,51,0 0/1:99:124,0,184 . . 20 62193445 rs3810481 G A NON_SYNONYMOUS_CODING RP4-697K14.7.1 MODERATE|MISSENSE|aCg/aTg|T2170M|2649|RP4-697K14.7.1|protein_coding|CODING|ENST00000467148|exon_20_62193425_62193556 1/1:99:250,51,0 0/1:99:124,0,184 . . 20 62194510 rs34980032 T C NON_SYNONYMOUS_CODING RP4-697K14.7.1 MODERATE|MISSENSE|Acc/Gcc|T1320A|2080|RP4-697K14.7.1|protein_coding|CODING|ENST00000427522|exon_20_62193873_62197584 . . . 0/1:99:135,0,148 20 62194510 rs34980032 T C NON_SYNONYMOUS_CODING RP4-697K14.7.1 MODERATE|MISSENSE|Acc/Gcc|T1889A|2649|RP4-697K14.7.1|protein_coding|CODING|ENST00000467148|exon_20_62193873_62197584 . . . 0/1:99:135,0,148 20 62195220 rs3827022 C T NON_SYNONYMOUS_CODING RP4-697K14.7.1 MODERATE|MISSENSE|cGg/cAg|R1083Q|2080|RP4-697K14.7.1|protein_coding|CODING|ENST00000427522|exon_20_62193873_62197584 1/1:99:255,57,0 0/1:99:255,0,203 . . 20 62195220 rs3827022 C T NON_SYNONYMOUS_CODING RP4-697K14.7.1 MODERATE|MISSENSE|cGg/cAg|R1652Q|2649|RP4-697K14.7.1|protein_coding|CODING|ENST00000467148|exon_20_62193873_62197584 1/1:99:255,57,0 0/1:99:255,0,203 . . 20 62196033 rs3810487 C T NON_SYNONYMOUS_CODING RP4-697K14.7.1 MODERATE|MISSENSE|aGg/aAg|R1381K|2649|RP4-697K14.7.1|protein_coding|CODING|ENST00000467148|exon_20_62193873_62197584 1/1:99:255,57,0 0/1:99:154,0,255 . . 20 62196033 rs3810487 C T NON_SYNONYMOUS_CODING RP4-697K14.7.1 MODERATE|MISSENSE|aGg/aAg|R812K|2080|RP4-697K14.7.1|protein_coding|CODING|ENST00000427522|exon_20_62193873_62197584 1/1:99:255,57,0 0/1:99:154,0,255 . . 20 62321128 rs35640778 G A NON_SYNONYMOUS_CODING RTEL1.1 MODERATE|MISSENSE|cGg/cAg|R684Q|1219|RTEL1.1|protein_coding|CODING|ENST00000370018|exon_20_62321103_62321218 . 0/1:99:170,0,255 . . 20 62321128 rs35640778 G A NON_SYNONYMOUS_CODING RTEL1.1 MODERATE|MISSENSE|cGg/cAg|R684Q|1300|RTEL1.1|protein_coding|CODING|ENST00000360203|exon_20_62321103_62321218 . 0/1:99:170,0,255 . . 20 62321128 rs35640778 G A NON_SYNONYMOUS_CODING RTEL1.1 MODERATE|MISSENSE|cGg/cAg|R684Q|1400|RTEL1.1|protein_coding|CODING|ENST00000318100|exon_20_62321103_62321218 . 0/1:99:170,0,255 . . 20 62321128 rs35640778 G A NON_SYNONYMOUS_CODING RTEL1.1 MODERATE|MISSENSE|cGg/cAg|R708Q|1243|RTEL1.1|protein_coding|CODING|ENST00000508582|exon_20_62321103_62321218 . 0/1:99:170,0,255 . . 20 62321128 rs35640778 G A NON_SYNONYMOUS_CODING RTEL1.1 MODERATE|MISSENSE|cGg/cAg|R77Q|220|RTEL1.1|protein_coding|CODING|ENST00000425905|exon_20_62321103_62321218 . 0/1:99:170,0,255 . . 20 62321690 . GAGAAGA GAGA CODON_CHANGE_PLUS_CODON_DELETION RTEL1.1 MODERATE||gaagat/gat|ED164D|220|RTEL1.1|protein_coding|CODING|ENST00000425905|exon_20_62321647_62321794 . . 0/1:99:119,0,212 . 20 62321690 . GAGAAGA GAGA CODON_CHANGE_PLUS_CODON_DELETION RTEL1.1 MODERATE||gaagat/gat|ED16D|545|RTEL1.1|protein_coding|CODING|ENST00000370003|exon_20_62321647_62321794 . . 0/1:99:119,0,212 . 20 62321690 . GAGAAGA GAGA CODON_CHANGE_PLUS_CODON_DELETION RTEL1.1 MODERATE||gaagat/gat|ED771D|1219|RTEL1.1|protein_coding|CODING|ENST00000370018|exon_20_62321647_62321794 . . 0/1:99:119,0,212 . 20 62321690 . GAGAAGA GAGA CODON_CHANGE_PLUS_CODON_DELETION RTEL1.1 MODERATE||gaagat/gat|ED771D|1300|RTEL1.1|protein_coding|CODING|ENST00000360203|exon_20_62321647_62321794 . . 0/1:99:119,0,212 . 20 62321690 . GAGAAGA GAGA CODON_CHANGE_PLUS_CODON_DELETION RTEL1.1 MODERATE||gaagat/gat|ED771D|1400|RTEL1.1|protein_coding|CODING|ENST00000318100|exon_20_62321647_62321794 . . 0/1:99:119,0,212 . 20 62321690 . GAGAAGA GAGA CODON_CHANGE_PLUS_CODON_DELETION RTEL1.1 MODERATE||gaagat/gat|ED795D|1243|RTEL1.1|protein_coding|CODING|ENST00000508582|exon_20_62321647_62321794 . . 0/1:99:119,0,212 . 20 62493978 rs74444574 G A NON_SYNONYMOUS_CODING ABHD16B MODERATE|MISSENSE|cGa/cAa|R362Q|469|ABHD16B|protein_coding|CODING|ENST00000369916|exon_20_62492566_62494341 0/1:99:181,0,163 . . . 20 62595547 rs6062599 C T NON_SYNONYMOUS_CODING ZNF512B MODERATE|MISSENSE|Gcc/Acc|A453T|892|ZNF512B|protein_coding|CODING|ENST00000217130|exon_20_62595424_62595570 . 0/1:99:181,0,255 . . 20 62595547 rs6062599 C T NON_SYNONYMOUS_CODING ZNF512B MODERATE|MISSENSE|Gcc/Acc|A453T|892|ZNF512B|protein_coding|CODING|ENST00000369888|exon_20_62595424_62595570 . 0/1:99:181,0,255 . . 20 62595547 rs6062599 C T NON_SYNONYMOUS_CODING ZNF512B MODERATE|MISSENSE|Gcc/Acc|A453T|892|ZNF512B|protein_coding|CODING|ENST00000450537|exon_20_62595424_62595570 . 0/1:99:181,0,255 . . 20 62595990 rs817326 T C NON_SYNONYMOUS_CODING ZNF512B MODERATE|MISSENSE|Atg/Gtg|M372V|892|ZNF512B|protein_coding|CODING|ENST00000217130|exon_20_62595843_62596069 . 0/1:99:206,0,209 . . 20 62595990 rs817326 T C NON_SYNONYMOUS_CODING ZNF512B MODERATE|MISSENSE|Atg/Gtg|M372V|892|ZNF512B|protein_coding|CODING|ENST00000369888|exon_20_62595843_62596069 . 0/1:99:206,0,209 . . 20 62595990 rs817326 T C NON_SYNONYMOUS_CODING ZNF512B MODERATE|MISSENSE|Atg/Gtg|M372V|892|ZNF512B|protein_coding|CODING|ENST00000450537|exon_20_62595843_62596069 . 0/1:99:206,0,209 . . 20 62597666 rs45486695 C T NON_SYNONYMOUS_CODING ZNF512B MODERATE|MISSENSE|Gtg/Atg|V288M|892|ZNF512B|protein_coding|CODING|ENST00000217130|exon_20_62597494_62598134 . 0/1:99:114,0,252 . . 20 62597666 rs45486695 C T NON_SYNONYMOUS_CODING ZNF512B MODERATE|MISSENSE|Gtg/Atg|V288M|892|ZNF512B|protein_coding|CODING|ENST00000369888|exon_20_62597494_62598134 . 0/1:99:114,0,252 . . 20 62597666 rs45486695 C T NON_SYNONYMOUS_CODING ZNF512B MODERATE|MISSENSE|Gtg/Atg|V288M|892|ZNF512B|protein_coding|CODING|ENST00000450537|exon_20_62597494_62598134 . 0/1:99:114,0,252 . . 20 62608720 rs145097158 T G NON_SYNONYMOUS_CODING SAMD10 MODERATE|MISSENSE|cAc/cCc|H44P|202|SAMD10|protein_coding|CODING|ENST00000369886|exon_20_62608578_62608759 . 0/1:99:195,0,150 . . 20 62608720 rs145097158 T G NON_SYNONYMOUS_CODING SAMD10 MODERATE|MISSENSE|cAc/cCc|H83P|105|SAMD10|protein_coding|CODING|ENST00000450107|exon_20_62608650_62608759 . 0/1:99:195,0,150 . . 20 62679713 rs200668348 C T NON_SYNONYMOUS_CODING SOX18 MODERATE|MISSENSE|Gac/Aac|D321N|384|SOX18|protein_coding|CODING|ENST00000340356|exon_20_62679076_62680315 . . . 0/1:70:69,0,72 21 10959771 rs111657679 A T NON_SYNONYMOUS_CODING TPTE MODERATE|MISSENSE|gTt/gAt|V50D|129|TPTE|protein_coding|CODING|ENST00000328758|exon_21_10959741_10959800 . . 0/1:99:137,0,255 . 21 10959771 rs111657679 A T NON_SYNONYMOUS_CODING TPTE MODERATE|MISSENSE|gTt/gAt|V50D|533|TPTE|protein_coding|CODING|ENST00000298232|exon_21_10959741_10959800 . . 0/1:99:137,0,255 . 21 10959771 rs111657679 A T NON_SYNONYMOUS_CODING TPTE MODERATE|MISSENSE|gTt/gAt|V68D|551|TPTE|protein_coding|CODING|ENST00000361285|exon_21_10959741_10959800 . . 0/1:99:137,0,255 . 21 15561623 rs11909217 C T NON_SYNONYMOUS_CODING LIPI MODERATE|MISSENSE|tGt/tAt|C55Y|460|LIPI|protein_coding|CODING|ENST00000536861|exon_21_15561355_15561740 . . 0/1:99:255,0,255 . 21 15561623 rs11909217 C T NON_SYNONYMOUS_CODING LIPI MODERATE|MISSENSE|tGt/tAt|C76Y|481|LIPI|protein_coding|CODING|ENST00000344577|exon_21_15561355_15561740 . . 0/1:99:255,0,255 . 21 28338298 rs457947 C G NON_SYNONYMOUS_CODING ADAMTS5 MODERATE|MISSENSE|gGt/gCt|G138A|930|ADAMTS5|protein_coding|CODING|ENST00000284987|exon_21_28337607_28338832 . . 0/1:99:218,0,230 . 21 30380359 rs139428854 A G NON_SYNONYMOUS_CODING RWDD2B MODERATE|MISSENSE|Tgt/Cgt|C150R|319|RWDD2B|protein_coding|CODING|ENST00000493196|exon_21_30380082_30380444 . . 0/1:99:255,0,234 . 21 31744310 rs3804010 G C NON_SYNONYMOUS_CODING KRTAP13-2 MODERATE|MISSENSE|agC/agG|S74R|175|KRTAP13-2|protein_coding|CODING|ENST00000399889|exon_21_31743709_31744557 0/1:99:231,0,212 . . . 21 31964907 rs75088048 G T NON_SYNONYMOUS_CODING KRTAP6-3 MODERATE|MISSENSE|gGc/gTc|G41V|103|KRTAP6-3|protein_coding|CODING|ENST00000391624|exon_21_31964759_31965394 . . 0/1:99:172,0,154 . 21 32185372 . C G NON_SYNONYMOUS_CODING KRTAP8-1 MODERATE|MISSENSE|aGa/aCa|R56T|63|KRTAP8-1|protein_coding|CODING|ENST00000329621|exon_21_32185016_32185570 . . 0/1:99:118,0,255 . 21 32185517 . C T NON_SYNONYMOUS_CODING KRTAP8-1 MODERATE|MISSENSE|Ggg/Agg|G8R|63|KRTAP8-1|protein_coding|CODING|ENST00000329621|exon_21_32185016_32185570 . . 0/1:99:255,0,255 . 21 33951068 rs9622 T C NON_SYNONYMOUS_CODING TCP10L MODERATE|MISSENSE|cAc/cGc|H145R|215|TCP10L|protein_coding|CODING|ENST00000300258|exon_21_33951004_33951141 0/1:99:255,0,240 . . . 21 34059352 rs2254562 T C NON_SYNONYMOUS_CODING SYNJ1 MODERATE|MISSENSE|aAa/aGa|K295R|1295|SYNJ1|protein_coding|CODING|ENST00000357345|exon_21_34059288_34059384 0/1:99:255,0,255 . . . 21 34059352 rs2254562 T C NON_SYNONYMOUS_CODING SYNJ1 MODERATE|MISSENSE|aAa/aGa|K295R|1526|SYNJ1|protein_coding|CODING|ENST00000382491|exon_21_34059288_34059384 0/1:99:255,0,255 . . . 21 34059352 rs2254562 T C NON_SYNONYMOUS_CODING SYNJ1 MODERATE|MISSENSE|aAa/aGa|K295R|1573|SYNJ1|protein_coding|CODING|ENST00000322229|exon_21_34059288_34059384 0/1:99:255,0,255 . . . 21 34059352 rs2254562 T C NON_SYNONYMOUS_CODING SYNJ1 MODERATE|MISSENSE|aAa/aGa|K295R|694|SYNJ1|protein_coding|CODING|ENST00000429236|exon_21_34059288_34059384 0/1:99:255,0,255 . . . 21 34059352 rs2254562 T C NON_SYNONYMOUS_CODING SYNJ1 MODERATE|MISSENSE|aAa/aGa|K334R|1350|SYNJ1|protein_coding|CODING|ENST00000382499|exon_21_34059288_34059384 0/1:99:255,0,255 . . . 21 34059352 rs2254562 T C NON_SYNONYMOUS_CODING SYNJ1 MODERATE|MISSENSE|aAa/aGa|K334R|1612|SYNJ1|protein_coding|CODING|ENST00000433931|exon_21_34059288_34059384 0/1:99:255,0,255 . . . 21 34787312 rs9808753 A G NON_SYNONYMOUS_CODING IFNGR2 MODERATE|MISSENSE|cAa/cGa|Q64R|337|IFNGR2|protein_coding|CODING|ENST00000290219|exon_21_34787195_34787327 0/1:99:190,0,255 . . . 21 34787312 rs9808753 A G NON_SYNONYMOUS_CODING IFNGR2 MODERATE|MISSENSE|cAa/cGa|Q83R|356|IFNGR2|protein_coding|CODING|ENST00000381995|exon_21_34787195_34787327 0/1:99:190,0,255 . . . 21 34924668 . C T NON_SYNONYMOUS_CODING SON MODERATE|MISSENSE|gCc/gTc|A1044V|2108|SON|protein_coding|CODING|ENST00000381679|exon_21_34921782_34927697 . . . 0/1:99:206,0,255 21 34924668 . C T NON_SYNONYMOUS_CODING SON MODERATE|MISSENSE|gCc/gTc|A1044V|2303|SON|protein_coding|CODING|ENST00000300278|exon_21_34921782_34927697 . . . 0/1:99:206,0,255 21 34924668 . C T NON_SYNONYMOUS_CODING SON MODERATE|MISSENSE|gCc/gTc|A1044V|2325|SON|protein_coding|CODING|ENST00000290239|exon_21_34921782_34927697 . . . 0/1:99:206,0,255 21 34924668 . C T NON_SYNONYMOUS_CODING SON MODERATE|MISSENSE|gCc/gTc|A1044V|2426|SON|protein_coding|CODING|ENST00000356577|exon_21_34921782_34927697 . . . 0/1:99:206,0,255 21 35239562 rs56279221 A G NON_SYNONYMOUS_CODING ITSN1 MODERATE|MISSENSE|aAa/aGa|K1296R|1650|ITSN1|protein_coding|CODING|ENST00000381288|exon_21_35239537_35239635 . . . 0/1:99:255,0,226 21 35239562 rs56279221 A G NON_SYNONYMOUS_CODING ITSN1 MODERATE|MISSENSE|aAa/aGa|K1362R|1660|ITSN1|protein_coding|CODING|ENST00000437442|exon_21_35239537_35239635 . . . 0/1:99:255,0,226 21 35239562 rs56279221 A G NON_SYNONYMOUS_CODING ITSN1 MODERATE|MISSENSE|aAa/aGa|K1362R|1716|ITSN1|protein_coding|CODING|ENST00000399367|exon_21_35239537_35239635 . . . 0/1:99:255,0,226 21 35239562 rs56279221 A G NON_SYNONYMOUS_CODING ITSN1 MODERATE|MISSENSE|aAa/aGa|K1367R|1721|ITSN1|protein_coding|CODING|ENST00000381285|exon_21_35239537_35239635 . . . 0/1:99:255,0,226 21 35239562 rs56279221 A G NON_SYNONYMOUS_CODING ITSN1 MODERATE|MISSENSE|aAa/aGa|K1367R|1721|ITSN1|protein_coding|CODING|ENST00000381318|exon_21_35239537_35239635 . . . 0/1:99:255,0,226 21 35514749 rs61910679 A T NON_SYNONYMOUS_CODING MRPS6 MODERATE|MISSENSE|gAa/gTa|E76V|125|MRPS6|protein_coding|CODING|ENST00000399312|exon_21_35514708_35515334 . . 0/1:99:255,0,255 . 21 35821680 rs1805128 C T NON_SYNONYMOUS_CODING KCNE1 MODERATE|MISSENSE|Gat/Aat|D85N|129|KCNE1|protein_coding|CODING|ENST00000337385|exon_21_35818989_35821982 0/1:99:255,0,182 . . 0/1:99:255,0,202 21 35821680 rs1805128 C T NON_SYNONYMOUS_CODING KCNE1 MODERATE|MISSENSE|Gat/Aat|D85N|129|KCNE1|protein_coding|CODING|ENST00000399284|exon_21_35821543_35821982 0/1:99:255,0,182 . . 0/1:99:255,0,202 21 35821680 rs1805128 C T NON_SYNONYMOUS_CODING KCNE1 MODERATE|MISSENSE|Gat/Aat|D85N|129|KCNE1|protein_coding|CODING|ENST00000399286|exon_21_35821354_35821982 0/1:99:255,0,182 . . 0/1:99:255,0,202 21 35821680 rs1805128 C T NON_SYNONYMOUS_CODING KCNE1 MODERATE|MISSENSE|Gat/Aat|D85N|129|KCNE1|protein_coding|CODING|ENST00000399289|exon_21_35818988_35821982 0/1:99:255,0,182 . . 0/1:99:255,0,202 21 35821680 rs1805128 C T NON_SYNONYMOUS_CODING KCNE1 MODERATE|MISSENSE|Gat/Aat|D85N|129|KCNE1|protein_coding|CODING|ENST00000416357|exon_21_35821543_35821982 0/1:99:255,0,182 . . 0/1:99:255,0,202 21 35821680 rs1805128 C T NON_SYNONYMOUS_CODING KCNE1 MODERATE|MISSENSE|Gat/Aat|D85N|129|KCNE1|protein_coding|CODING|ENST00000432085|exon_21_35818989_35821982 0/1:99:255,0,182 . . 0/1:99:255,0,202 21 36042492 rs13048804 A G NON_SYNONYMOUS_CODING CLIC6 MODERATE|MISSENSE|Agc/Ggc|S269G|686|CLIC6|protein_coding|CODING|ENST00000349499|exon_21_36041688_36043061 . . 0/1:86:97,0,83 . 21 36042492 rs13048804 A G NON_SYNONYMOUS_CODING CLIC6 MODERATE|MISSENSE|Agc/Ggc|S269G|704|CLIC6|protein_coding|CODING|ENST00000360731|exon_21_36041688_36043061 . . 0/1:86:97,0,83 . 21 37623565 rs76166909 C T NON_SYNONYMOUS_CODING DOPEY2 MODERATE|MISSENSE|Cgt/Tgt|R1702C|2298|DOPEY2|protein_coding|CODING|ENST00000399151|exon_21_37623460_37623582 . 0/1:99:244,0,225 . . 21 40552362 rs200021987 G C NON_SYNONYMOUS_CODING PSMG1 MODERATE|MISSENSE|gCa/gGa|A81G|267|PSMG1|protein_coding|CODING|ENST00000380900|exon_21_40552211_40552362 . . 0/1:99:255,0,255 . 21 40552362 rs200021987 G C NON_SYNONYMOUS_CODING PSMG1 MODERATE|MISSENSE|gCa/gGa|A81G|288|PSMG1|protein_coding|CODING|ENST00000331573|exon_21_40552211_40552362 . . 0/1:99:255,0,255 . 21 40720494 rs34613278 C T NON_SYNONYMOUS_CODING HMGN1 MODERATE|MISSENSE|Gcc/Acc|A25T|116|HMGN1|protein_coding|CODING|ENST00000380747|exon_21_40720471_40720503 0/1:98:121,0,95 0/1:99:147,0,193 . . 21 40720494 rs34613278 C T NON_SYNONYMOUS_CODING HMGN1 MODERATE|MISSENSE|Gcc/Acc|A9T|100|HMGN1|protein_coding|CODING|ENST00000380749|exon_21_40720471_40720503 0/1:98:121,0,95 0/1:99:147,0,193 . . 21 40720494 rs34613278 C T NON_SYNONYMOUS_CODING HMGN1 MODERATE|MISSENSE|Gcc/Acc|A9T|90|HMGN1|protein_coding|CODING|ENST00000380748|exon_21_40720471_40720503 0/1:98:121,0,95 0/1:99:147,0,193 . . 21 40778182 rs11558767 C T NON_SYNONYMOUS_CODING LCA5L MODERATE|MISSENSE|Ggc/Agc|G547S|670|LCA5L|protein_coding|CODING|ENST00000288350|exon_21_40777770_40778538 . . 0/1:99:248,0,255 . 21 40778182 rs11558767 C T NON_SYNONYMOUS_CODING LCA5L MODERATE|MISSENSE|Ggc/Agc|G547S|670|LCA5L|protein_coding|CODING|ENST00000358268|exon_21_40777786_40778538 . . 0/1:99:248,0,255 . 21 40778182 rs11558767 C T NON_SYNONYMOUS_CODING LCA5L MODERATE|MISSENSE|Ggc/Agc|G547S|670|LCA5L|protein_coding|CODING|ENST00000380671|exon_21_40777770_40778538 . . 0/1:99:248,0,255 . 21 42694870 rs2838012 G A NON_SYNONYMOUS_CODING FAM3B MODERATE|MISSENSE|Gtg/Atg|V14M|235|FAM3B|protein_coding|CODING|ENST00000357985|exon_21_42694850_42694993 . . . 0/1:99:221,0,252 21 42694870 rs2838012 G A NON_SYNONYMOUS_CODING FAM3B MODERATE|MISSENSE|Gtg/Atg|V37M|258|FAM3B|protein_coding|CODING|ENST00000398646|exon_21_42694747_42694993 . . . 0/1:99:221,0,252 21 42694870 rs2838012 G A NON_SYNONYMOUS_CODING FAM3B MODERATE|MISSENSE|Gtg/Atg|V53M|274|FAM3B|protein_coding|CODING|ENST00000398652|exon_21_42694850_42694993 . . . 0/1:99:221,0,252 21 42720579 rs111988437 G A NON_SYNONYMOUS_CODING FAM3B MODERATE|MISSENSE|atG/atA|M134I|187|FAM3B|protein_coding|CODING|ENST00000398647|exon_21_42720519_42720651 . . 0/1:99:249,0,255 . 21 42720579 rs111988437 G A NON_SYNONYMOUS_CODING FAM3B MODERATE|MISSENSE|atG/atA|M182I|235|FAM3B|protein_coding|CODING|ENST00000357985|exon_21_42720519_42720651 . . 0/1:99:249,0,255 . 21 42720579 rs111988437 G A NON_SYNONYMOUS_CODING FAM3B MODERATE|MISSENSE|atG/atA|M205I|258|FAM3B|protein_coding|CODING|ENST00000398646|exon_21_42720519_42720651 . . 0/1:99:249,0,255 . 21 42720579 rs111988437 G A NON_SYNONYMOUS_CODING FAM3B MODERATE|MISSENSE|atG/atA|M221I|274|FAM3B|protein_coding|CODING|ENST00000398652|exon_21_42720519_42720651 . . 0/1:99:249,0,255 . 21 42813714 rs199543737 G A NON_SYNONYMOUS_CODING MX1 MODERATE|MISSENSE|Gtg/Atg|V245M|639|MX1|protein_coding|CODING|ENST00000288383|exon_21_42813643_42813841 . . . 0/1:99:255,0,108 21 42813714 rs199543737 G A NON_SYNONYMOUS_CODING MX1 MODERATE|MISSENSE|Gtg/Atg|V268M|662|MX1|protein_coding|CODING|ENST00000398598|exon_21_42813643_42813841 . . . 0/1:99:255,0,108 21 42813714 rs199543737 G A NON_SYNONYMOUS_CODING MX1 MODERATE|MISSENSE|Gtg/Atg|V268M|662|MX1|protein_coding|CODING|ENST00000398600|exon_21_42813643_42813841 . . . 0/1:99:255,0,108 21 42813714 rs199543737 G A NON_SYNONYMOUS_CODING MX1 MODERATE|MISSENSE|Gtg/Atg|V268M|662|MX1|protein_coding|CODING|ENST00000455164|exon_21_42813643_42813841 . . . 0/1:99:255,0,108 21 43166266 . A C NON_SYNONYMOUS_CODING RIPK4 MODERATE|MISSENSE|Tgg/Ggg|W300G|832|RIPK4|protein_coding|CODING|ENST00000352483|exon_21_43166230_43166331 . . 0/1:58:55,0,112 . 21 43298846 rs143393748 C T NON_SYNONYMOUS_CODING PRDM15 MODERATE|MISSENSE|gGt/gAt|G124D|1507|PRDM15|protein_coding|CODING|ENST00000269844|exon_21_43298804_43298969 . . 0/1:99:139,0,166 . 21 43314865 rs2839410 T C NON_SYNONYMOUS_CODING AP001619.1 MODERATE|MISSENSE|aAa/aGa|K95R|152|AP001619.1|protein_coding|CODING|ENST00000400449|exon_21_43313829_43315235 . . . 0/1:99:246,0,155 21 43411548 . GCCTCCTCC GCCTCC CODON_DELETION ZNF295 MODERATE||gtggag/gtg|VE682V|865|ZNF295|protein_coding|CODING|ENST00000398505|exon_21_43406940_43411998 . . . 0/1:99:192,0,255 21 43411548 . GCCTCCTCC GCCTCC CODON_DELETION ZNF295 MODERATE||gtggag/gtg|VE883V|1066|ZNF295|protein_coding|CODING|ENST00000310826|exon_21_43406940_43414217 . . . 0/1:99:192,0,255 21 43411548 . GCCTCCTCC GCCTCC CODON_DELETION ZNF295 MODERATE||gtggag/gtg|VE883V|1066|ZNF295|protein_coding|CODING|ENST00000398499|exon_21_43408746_43414217 . . . 0/1:99:192,0,255 21 43411548 . GCCTCCTCC GCCTCC CODON_DELETION ZNF295 MODERATE||gtggag/gtg|VE883V|1066|ZNF295|protein_coding|CODING|ENST00000398511|exon_21_43408746_43414217 . . . 0/1:99:192,0,255 21 43510427 rs67055914 T C NON_SYNONYMOUS_CODING UMODL1 MODERATE|MISSENSE|aTg/aCg|M43T|77|UMODL1|protein_coding|CODING|ENST00000423139|exon_21_43510408_43510548 . 0/1:99:255,0,214 . . 21 43510437 rs17114359 A C NON_SYNONYMOUS_CODING UMODL1 MODERATE|MISSENSE|Aat/Cat|N120H|184|UMODL1|protein_coding|CODING|ENST00000400417|exon_21_43510408_43510548 . 0/1:99:255,0,210 . . 21 43510437 rs17114359 A C NON_SYNONYMOUS_CODING UMODL1 MODERATE|MISSENSE|Aat/Cat|N120H|252|UMODL1|protein_coding|CODING|ENST00000380462|exon_21_43510408_43510548 . 0/1:99:255,0,210 . . 21 43510437 rs17114359 A C NON_SYNONYMOUS_CODING UMODL1 MODERATE|MISSENSE|Aat/Cat|N202H|1246|UMODL1|protein_coding|CODING|ENST00000400424|exon_21_43510408_43510548 . 0/1:99:255,0,210 . . 21 43510437 rs17114359 A C NON_SYNONYMOUS_CODING UMODL1 MODERATE|MISSENSE|Aat/Cat|N202H|1374|UMODL1|protein_coding|CODING|ENST00000400427|exon_21_43510408_43510548 . 0/1:99:255,0,210 . . 21 43510437 rs17114359 A C NON_SYNONYMOUS_CODING UMODL1 MODERATE|MISSENSE|Aat/Cat|N274H|1318|UMODL1|protein_coding|CODING|ENST00000408910|exon_21_43510408_43510548 . 0/1:99:255,0,210 . . 21 43510437 rs17114359 A C NON_SYNONYMOUS_CODING UMODL1 MODERATE|MISSENSE|Aat/Cat|N274H|1446|UMODL1|protein_coding|CODING|ENST00000408989|exon_21_43510408_43510548 . 0/1:99:255,0,210 . . 21 43513989 rs34421316 C T NON_SYNONYMOUS_CODING UMODL1 MODERATE|MISSENSE|Ctt/Ttt|L160F|184|UMODL1|protein_coding|CODING|ENST00000400417|exon_21_43513981_43514066 . 0/1:99:235,0,198 . . 21 43770109 . T C NON_SYNONYMOUS_CODING TFF2 MODERATE|MISSENSE|cAt/cGt|H37R|129|TFF2|protein_coding|CODING|ENST00000291526|exon_21_43769990_43770139 0/1:99:225,0,255 . . . 21 43786540 rs34795821 G A NON_SYNONYMOUS_CODING TFF1 MODERATE|MISSENSE|aCc/aTc|T22I|84|TFF1|protein_coding|CODING|ENST00000291527|exon_21_43786520_43786703 . . . 0/1:99:161,0,122 21 43808627 rs35227181 C T NON_SYNONYMOUS_CODING TMPRSS3 MODERATE|MISSENSE|Ggt/Agt|G109S|451|TMPRSS3|protein_coding|CODING|ENST00000398405|exon_21_43808512_43808635 0/1:99:248,0,241 . . 0/1:99:228,0,222 21 43808627 rs35227181 C T NON_SYNONYMOUS_CODING TMPRSS3 MODERATE|MISSENSE|Ggt/Agt|G111S|344|TMPRSS3|protein_coding|CODING|ENST00000398397|exon_21_43808512_43808635 0/1:99:248,0,241 . . 0/1:99:228,0,222 21 43808627 rs35227181 C T NON_SYNONYMOUS_CODING TMPRSS3 MODERATE|MISSENSE|Ggt/Agt|G111S|453|TMPRSS3|protein_coding|CODING|ENST00000433957|exon_21_43808512_43808635 0/1:99:248,0,241 . . 0/1:99:228,0,222 21 43808627 rs35227181 C T NON_SYNONYMOUS_CODING TMPRSS3 MODERATE|MISSENSE|Ggt/Agt|G111S|454|TMPRSS3|protein_coding|CODING|ENST00000291532|exon_21_43808512_43808635 0/1:99:248,0,241 . . 0/1:99:228,0,222 21 43808627 rs35227181 C T NON_SYNONYMOUS_CODING TMPRSS3 MODERATE|MISSENSE|Ggt/Agt|G195S|538|TMPRSS3|protein_coding|CODING|ENST00000380399|exon_21_43808512_43808635 0/1:99:248,0,241 . . 0/1:99:228,0,222 21 43816130 rs56369547 C G NON_SYNONYMOUS_CODING TMPRSS3 MODERATE|MISSENSE|tGt/tCt|C41S|538|TMPRSS3|protein_coding|CODING|ENST00000380399|exon_21_43816051_43816955 0/1:99:255,0,255 . . . 21 43838643 rs13048049 G A NON_SYNONYMOUS_CODING UBASH3A MODERATE|MISSENSE|cGg/cAg|R286Q|526|UBASH3A|protein_coding|CODING|ENST00000398367|exon_21_43838510_43838718 . . 0/1:99:155,0,242 . 21 43838643 rs13048049 G A NON_SYNONYMOUS_CODING UBASH3A MODERATE|MISSENSE|cGg/cAg|R286Q|623|UBASH3A|protein_coding|CODING|ENST00000291535|exon_21_43838510_43838718 . . 0/1:99:155,0,242 . 21 43838643 rs13048049 G A NON_SYNONYMOUS_CODING UBASH3A MODERATE|MISSENSE|cGg/cAg|R324Q|661|UBASH3A|protein_coding|CODING|ENST00000319294|exon_21_43838510_43838718 . . 0/1:99:155,0,242 . 21 44190901 rs75225742 T G NON_SYNONYMOUS_CODING PDE9A MODERATE|MISSENSE|aTg/aGg|M400R|433|PDE9A|protein_coding|CODING|ENST00000398227|exon_21_44190813_44190908 . 0/1:99:230,0,228 . . 21 44190901 rs75225742 T G NON_SYNONYMOUS_CODING PDE9A MODERATE|MISSENSE|aTg/aGg|M426R|459|PDE9A|protein_coding|CODING|ENST00000398229|exon_21_44190813_44190908 . 0/1:99:230,0,228 . . 21 44190901 rs75225742 T G NON_SYNONYMOUS_CODING PDE9A MODERATE|MISSENSE|aTg/aGg|M432R|465|PDE9A|protein_coding|CODING|ENST00000349112|exon_21_44190813_44190908 . 0/1:99:230,0,228 . . 21 44190901 rs75225742 T G NON_SYNONYMOUS_CODING PDE9A MODERATE|MISSENSE|aTg/aGg|M432R|465|PDE9A|protein_coding|CODING|ENST00000539837|exon_21_44190813_44190908 . 0/1:99:230,0,228 . . 21 44190901 rs75225742 T G NON_SYNONYMOUS_CODING PDE9A MODERATE|MISSENSE|aTg/aGg|M433R|466|PDE9A|protein_coding|CODING|ENST00000398224|exon_21_44190813_44190908 . 0/1:99:230,0,228 . . 21 44190901 rs75225742 T G NON_SYNONYMOUS_CODING PDE9A MODERATE|MISSENSE|aTg/aGg|M458R|491|PDE9A|protein_coding|CODING|ENST00000335440|exon_21_44190813_44190908 . 0/1:99:230,0,228 . . 21 44190901 rs75225742 T G NON_SYNONYMOUS_CODING PDE9A MODERATE|MISSENSE|aTg/aGg|M459R|492|PDE9A|protein_coding|CODING|ENST00000398234|exon_21_44190813_44190908 . 0/1:99:230,0,228 . . 21 44190901 rs75225742 T G NON_SYNONYMOUS_CODING PDE9A MODERATE|MISSENSE|aTg/aGg|M474R|507|PDE9A|protein_coding|CODING|ENST00000398236|exon_21_44190813_44190908 . 0/1:99:230,0,228 . . 21 44190901 rs75225742 T G NON_SYNONYMOUS_CODING PDE9A MODERATE|MISSENSE|aTg/aGg|M493R|526|PDE9A|protein_coding|CODING|ENST00000398232|exon_21_44190813_44190908 . 0/1:99:230,0,228 . . 21 44190901 rs75225742 T G NON_SYNONYMOUS_CODING PDE9A MODERATE|MISSENSE|aTg/aGg|M500R|533|PDE9A|protein_coding|CODING|ENST00000335512|exon_21_44190813_44190908 . 0/1:99:230,0,228 . . 21 44190901 rs75225742 T G NON_SYNONYMOUS_CODING PDE9A MODERATE|MISSENSE|aTg/aGg|M507R|540|PDE9A|protein_coding|CODING|ENST00000380328|exon_21_44190813_44190908 . 0/1:99:230,0,228 . . 21 44190901 rs75225742 T G NON_SYNONYMOUS_CODING PDE9A MODERATE|MISSENSE|aTg/aGg|M519R|552|PDE9A|protein_coding|CODING|ENST00000398225|exon_21_44190813_44190908 . 0/1:99:230,0,228 . . 21 44190901 rs75225742 T G NON_SYNONYMOUS_CODING PDE9A MODERATE|MISSENSE|aTg/aGg|M534R|567|PDE9A|protein_coding|CODING|ENST00000328862|exon_21_44190813_44190908 . 0/1:99:230,0,228 . . 21 44190901 rs75225742 T G NON_SYNONYMOUS_CODING PDE9A MODERATE|MISSENSE|aTg/aGg|M560R|593|PDE9A|protein_coding|CODING|ENST00000291539|exon_21_44190813_44190908 . 0/1:99:230,0,228 . . 21 44513330 . C T NON_SYNONYMOUS_CODING U2AF1 MODERATE|MISSENSE|cGt/cAt|R129H|167|U2AF1|protein_coding|CODING|ENST00000398137|exon_21_44513067_44513359 . 0/1:99:111,0,206 . . 21 44513330 . C T NON_SYNONYMOUS_CODING U2AF1 MODERATE|MISSENSE|cGt/cAt|R129H|167|U2AF1|protein_coding|CODING|ENST00000459639|exon_21_44513066_44513359 . 0/1:99:111,0,206 . . 21 44513330 . C T NON_SYNONYMOUS_CODING U2AF1 MODERATE|MISSENSE|cGt/cAt|R202H|240|U2AF1|protein_coding|CODING|ENST00000291552|exon_21_44513066_44513359 . 0/1:99:111,0,206 . . 21 44513330 . C T NON_SYNONYMOUS_CODING U2AF1 MODERATE|MISSENSE|cGt/cAt|R202H|240|U2AF1|protein_coding|CODING|ENST00000380276|exon_21_44513066_44513359 . 0/1:99:111,0,206 . . 21 45733867 rs1057037 A T NON_SYNONYMOUS_CODING PFKL MODERATE|MISSENSE|gAc/gTc|D237V|780|PFKL|protein_coding|CODING|ENST00000349048|exon_21_45733796_45733904 . 0/1:99:118,0,159 . . 21 45733867 rs1057037 A T NON_SYNONYMOUS_CODING PFKL MODERATE|MISSENSE|gAc/gTc|D284V|827|PFKL|protein_coding|CODING|ENST00000403390|exon_21_45733796_45733904 . 0/1:99:118,0,159 . . 21 45733867 rs1057037 A T NON_SYNONYMOUS_CODING PFKL MODERATE|MISSENSE|gAc/gTc|D30V|573|PFKL|protein_coding|CODING|ENST00000534847|exon_21_45733796_45733904 . 0/1:99:118,0,159 . . 21 45750112 rs185842266 C T NON_SYNONYMOUS_CODING C21orf2 MODERATE|MISSENSE|cGt/cAt|R246H|255|C21orf2|protein_coding|CODING|ENST00000325223|exon_21_45749774_45750209 0/1:99:230,0,145 . . . 21 45750112 rs185842266 C T NON_SYNONYMOUS_CODING C21orf2 MODERATE|MISSENSE|cGt/cAt|R247H|256|C21orf2|protein_coding|CODING|ENST00000339818|exon_21_45748827_45750209 0/1:99:230,0,145 . . . 21 45750112 rs185842266 C T NON_SYNONYMOUS_CODING C21orf2 MODERATE|MISSENSE|cGt/cAt|R366H|375|C21orf2|protein_coding|CODING|ENST00000397956|exon_21_45749774_45750209 0/1:99:230,0,145 . . . 21 45970759 . ACTTGCAGCAGACAGGCTTGCAGCAGAC ACTTGCAGCAGAC CODON_DELETION KRTAP10-2 MODERATE||gtctgctgcaagcct/-|VCCKP186-|255|KRTAP10-2|protein_coding|CODING|ENST00000391621|exon_21_45970240_45971388 1/1:45:165,24,0 . . 0/1:99:140,0,255 21 45970993 rs233239 C G NON_SYNONYMOUS_CODING KRTAP10-2 MODERATE|MISSENSE|Gct/Cct|A117P|255|KRTAP10-2|protein_coding|CODING|ENST00000391621|exon_21_45970240_45971388 1/1:99:255,66,0 0/1:99:177,0,214 . 0/1:99:144,0,198 21 45971023 rs478967 G T NON_SYNONYMOUS_CODING KRTAP10-2 MODERATE|MISSENSE|Cct/Act|P107T|255|KRTAP10-2|protein_coding|CODING|ENST00000391621|exon_21_45970240_45971388 1/1:99:233,54,0 0/1:99:173,0,175 . 0/1:99:138,0,173 21 45971299 rs233240 T C NON_SYNONYMOUS_CODING KRTAP10-2 MODERATE|MISSENSE|Aac/Gac|N15D|255|KRTAP10-2|protein_coding|CODING|ENST00000391621|exon_21_45970240_45971388 1/1:99:255,51,0 0/1:78:231,0,75 . 0/1:81:243,0,78 21 46000367 rs149326833 G T NON_SYNONYMOUS_CODING KRTAP10-5 MODERATE|MISSENSE|cCc/cAc|P30H|271|KRTAP10-5|protein_coding|CODING|ENST00000400372|exon_21_45999332_46000481 0/1:99:141,0,233 . 0/1:99:170,0,231 . 21 46057417 rs114653592 A C NON_SYNONYMOUS_CODING KRTAP10-10 MODERATE|MISSENSE|gAg/gCg|E28A|251|KRTAP10-10|protein_coding|CODING|ENST00000380095|exon_21_46057273_46058370 . . 1/1:57:136,30,0 . 21 46086488 rs75799438 C T NON_SYNONYMOUS_CODING KRTAP12-2 MODERATE|MISSENSE|Gtg/Atg|V106M|146|KRTAP12-2|protein_coding|CODING|ENST00000360770|exon_21_46086106_46086844 . 0/1:99:209,0,193 . . 21 46086488 rs75799438 C T NON_SYNONYMOUS_CODING KRTAP12-2 MODERATE|MISSENSE|Gtg/Atg|V56M|96|KRTAP12-2|protein_coding|CODING|ENST00000539483|exon_21_46086363_46086580 . 0/1:99:209,0,193 . . 21 46228930 rs235293 C T NON_SYNONYMOUS_CODING SUMO3 MODERATE|MISSENSE|cGa/cAa|R85Q|135|SUMO3|protein_coding|CODING|ENST00000397898|exon_21_46228912_46229033 . . 0/1:99:255,0,237 0/1:99:255,0,153 21 46233836 rs2838697 C A NON_SYNONYMOUS_CODING SUMO3 MODERATE|MISSENSE|Gtt/Ttt|V69F|141|SUMO3|protein_coding|CODING|ENST00000411651|exon_21_46233777_46234019 0/1:99:246,0,190 . . . 21 46281170 rs144668992 G C NON_SYNONYMOUS_CODING PTTG1IP MODERATE|MISSENSE|aCt/aGt|T41S|159|PTTG1IP|protein_coding|CODING|ENST00000397886|exon_21_46281078_46281186 . . . 0/1:99:244,0,255 21 46281170 rs144668992 G C NON_SYNONYMOUS_CODING PTTG1IP MODERATE|MISSENSE|aCt/aGt|T62S|107|PTTG1IP|protein_coding|CODING|ENST00000397887|exon_21_46281078_46281186 . . . 0/1:99:244,0,255 21 46281170 rs144668992 G C NON_SYNONYMOUS_CODING PTTG1IP MODERATE|MISSENSE|aCt/aGt|T62S|180|PTTG1IP|protein_coding|CODING|ENST00000330938|exon_21_46281078_46281186 . . . 0/1:99:244,0,255 21 46875982 rs148957774 G A NON_SYNONYMOUS_CODING COL18A1 MODERATE|MISSENSE|Gcc/Acc|A180T|1519|COL18A1|protein_coding|CODING|ENST00000355480|exon_21_46875403_46876090 . 0/1:99:176,0,139 . . 21 46875982 rs148957774 G A NON_SYNONYMOUS_CODING COL18A1 MODERATE|MISSENSE|Gcc/Acc|A180T|1754|COL18A1|protein_coding|CODING|ENST00000359759|exon_21_46875424_46876795 . 0/1:99:176,0,139 . . 21 46875982 rs148957774 G A NON_SYNONYMOUS_CODING COL18A1 MODERATE|MISSENSE|Gcc/Acc|A180T|1754|COL18A1|protein_coding|CODING|ENST00000539645|exon_21_46875445_46876795 . 0/1:99:176,0,139 . . 21 46929331 rs187670025 C G NON_SYNONYMOUS_CODING COL18A1 MODERATE|MISSENSE|cCg/cGg|P1104R|1339|COL18A1|protein_coding|CODING|ENST00000400337|exon_21_46929270_46929515 . 0/1:99:190,0,203 . . 21 46929331 rs187670025 C G NON_SYNONYMOUS_CODING COL18A1 MODERATE|MISSENSE|cCg/cGg|P1104R|1339|COL18A1|protein_coding|CODING|ENST00000400347|exon_21_46929270_46929515 . 0/1:99:190,0,203 . . 21 46929331 rs187670025 C G NON_SYNONYMOUS_CODING COL18A1 MODERATE|MISSENSE|cCg/cGg|P1284R|1519|COL18A1|protein_coding|CODING|ENST00000355480|exon_21_46929270_46929515 . 0/1:99:190,0,203 . . 21 46929331 rs187670025 C G NON_SYNONYMOUS_CODING COL18A1 MODERATE|MISSENSE|cCg/cGg|P1519R|1754|COL18A1|protein_coding|CODING|ENST00000359759|exon_21_46929270_46929515 . 0/1:99:190,0,203 . . 21 46929331 rs187670025 C G NON_SYNONYMOUS_CODING COL18A1 MODERATE|MISSENSE|cCg/cGg|P1519R|1754|COL18A1|protein_coding|CODING|ENST00000539645|exon_21_46929270_46929515 . 0/1:99:190,0,203 . . 21 46929331 rs187670025 C G NON_SYNONYMOUS_CODING COL18A1 MODERATE|MISSENSE|cCg/cGg|P452R|687|COL18A1|protein_coding|CODING|ENST00000342220|exon_21_46929270_46929515 . 0/1:99:190,0,203 . . 21 46931109 rs12483377 G A NON_SYNONYMOUS_CODING COL18A1 MODERATE|MISSENSE|Gac/Aac|D1260N|1339|COL18A1|protein_coding|CODING|ENST00000400337|exon_21_46931025_46931140 . 0/1:39:219,0,36 . . 21 46931109 rs12483377 G A NON_SYNONYMOUS_CODING COL18A1 MODERATE|MISSENSE|Gac/Aac|D1260N|1339|COL18A1|protein_coding|CODING|ENST00000400347|exon_21_46931025_46931140 . 0/1:39:219,0,36 . . 21 46931109 rs12483377 G A NON_SYNONYMOUS_CODING COL18A1 MODERATE|MISSENSE|Gac/Aac|D1440N|1519|COL18A1|protein_coding|CODING|ENST00000355480|exon_21_46931025_46931140 . 0/1:39:219,0,36 . . 21 46931109 rs12483377 G A NON_SYNONYMOUS_CODING COL18A1 MODERATE|MISSENSE|Gac/Aac|D1675N|1754|COL18A1|protein_coding|CODING|ENST00000359759|exon_21_46931025_46931140 . 0/1:39:219,0,36 . . 21 46931109 rs12483377 G A NON_SYNONYMOUS_CODING COL18A1 MODERATE|MISSENSE|Gac/Aac|D1675N|1754|COL18A1|protein_coding|CODING|ENST00000539645|exon_21_46931025_46931140 . 0/1:39:219,0,36 . . 21 46931109 rs12483377 G A NON_SYNONYMOUS_CODING COL18A1 MODERATE|MISSENSE|Gac/Aac|D608N|687|COL18A1|protein_coding|CODING|ENST00000342220|exon_21_46931025_46931140 . 0/1:39:219,0,36 . . 21 47532288 rs200710788 G A NON_SYNONYMOUS_CODING COL6A2 MODERATE|MISSENSE|Ggg/Agg|G171R|1019|COL6A2|protein_coding|CODING|ENST00000300527|exon_21_47531893_47532491 . . 0/1:96:93,0,214 . 21 47532288 rs200710788 G A NON_SYNONYMOUS_CODING COL6A2 MODERATE|MISSENSE|Ggg/Agg|G171R|179|COL6A2|protein_coding|CODING|ENST00000436769|exon_21_47531893_47532318 . . 0/1:96:93,0,214 . 21 47532288 rs200710788 G A NON_SYNONYMOUS_CODING COL6A2 MODERATE|MISSENSE|Ggg/Agg|G171R|828|COL6A2|protein_coding|CODING|ENST00000310645|exon_21_47531893_47532491 . . 0/1:96:93,0,214 . 21 47532288 rs200710788 G A NON_SYNONYMOUS_CODING COL6A2 MODERATE|MISSENSE|Ggg/Agg|G171R|828|COL6A2|protein_coding|CODING|ENST00000409416|exon_21_47531893_47532491 . . 0/1:96:93,0,214 . 21 47532288 rs200710788 G A NON_SYNONYMOUS_CODING COL6A2 MODERATE|MISSENSE|Ggg/Agg|G171R|918|COL6A2|protein_coding|CODING|ENST00000357838|exon_21_47531893_47532491 . . 0/1:96:93,0,214 . 21 47532288 rs200710788 G A NON_SYNONYMOUS_CODING COL6A2 MODERATE|MISSENSE|Ggg/Agg|G171R|918|COL6A2|protein_coding|CODING|ENST00000397763|exon_21_47531893_47532491 . . 0/1:96:93,0,214 . 21 47540432 . G A NON_SYNONYMOUS_CODING COL6A2 MODERATE|MISSENSE|Gac/Aac|D446N|1019|COL6A2|protein_coding|CODING|ENST00000300527|exon_21_47540429_47540491 . 0/1:99:141,0,155 . . 21 47540432 . G A NON_SYNONYMOUS_CODING COL6A2 MODERATE|MISSENSE|Gac/Aac|D446N|828|COL6A2|protein_coding|CODING|ENST00000310645|exon_21_47540429_47540491 . 0/1:99:141,0,155 . . 21 47540432 . G A NON_SYNONYMOUS_CODING COL6A2 MODERATE|MISSENSE|Gac/Aac|D446N|828|COL6A2|protein_coding|CODING|ENST00000409416|exon_21_47540429_47540491 . 0/1:99:141,0,155 . . 21 47540432 . G A NON_SYNONYMOUS_CODING COL6A2 MODERATE|MISSENSE|Gac/Aac|D446N|918|COL6A2|protein_coding|CODING|ENST00000357838|exon_21_47540429_47540491 . 0/1:99:141,0,155 . . 21 47540432 . G A NON_SYNONYMOUS_CODING COL6A2 MODERATE|MISSENSE|Gac/Aac|D446N|918|COL6A2|protein_coding|CODING|ENST00000397763|exon_21_47540429_47540491 . 0/1:99:141,0,155 . . 21 47556882 rs79622089 G A NON_SYNONYMOUS_CODING FTCD MODERATE|MISSENSE|cCg/cTg|P542L|572|FTCD|protein_coding|CODING|ENST00000359679|exon_21_47556829_47556967 . 0/1:99:231,0,132 . . 21 47556882 rs79622089 G A NON_SYNONYMOUS_CODING FTCD MODERATE|MISSENSE|cCg/cTg|P542L|572|FTCD|protein_coding|CODING|ENST00000397748|exon_21_47556829_47556967 . 0/1:99:231,0,132 . . 21 47574237 . C T NON_SYNONYMOUS_CODING FTCD MODERATE|MISSENSE|Gcc/Acc|A22T|495|FTCD|protein_coding|CODING|ENST00000355384|exon_21_47574058_47574246 0/1:99:110,0,250 . . . 21 47574237 . C T NON_SYNONYMOUS_CODING FTCD MODERATE|MISSENSE|Gcc/Acc|A22T|495|FTCD|protein_coding|CODING|ENST00000397743|exon_21_47574063_47574246 0/1:99:110,0,250 . . . 21 47574237 . C T NON_SYNONYMOUS_CODING FTCD MODERATE|MISSENSE|Gcc/Acc|A22T|541|FTCD|protein_coding|CODING|ENST00000291670|exon_21_47574063_47574246 0/1:99:110,0,250 . . . 21 47574237 . C T NON_SYNONYMOUS_CODING FTCD MODERATE|MISSENSE|Gcc/Acc|A22T|541|FTCD|protein_coding|CODING|ENST00000397746|exon_21_47574063_47574246 0/1:99:110,0,250 . . . 21 47574237 . C T NON_SYNONYMOUS_CODING FTCD MODERATE|MISSENSE|Gcc/Acc|A22T|572|FTCD|protein_coding|CODING|ENST00000359679|exon_21_47574058_47574246 0/1:99:110,0,250 . . . 21 47574237 . C T NON_SYNONYMOUS_CODING FTCD MODERATE|MISSENSE|Gcc/Acc|A22T|572|FTCD|protein_coding|CODING|ENST00000397748|exon_21_47574063_47574246 0/1:99:110,0,250 . . . 21 47613161 rs58557992 CGTATGT CGTATGTATGT,TGTATGT NON_SYNONYMOUS_CODING AP001468.1 MODERATE|MISSENSE|cGc/cAc|R51H|308|AP001468.1|protein_coding|CODING|ENST00000424538|exon_21_47612445_47613179 0/2:44:.,.,.,.,.,41 1/1:27:67,15,0,.,.,. . . 21 47666744 rs17183220 G T NON_SYNONYMOUS_CODING MCM3AP MODERATE|MISSENSE|gaC/gaA|D1449E|1980|MCM3AP|protein_coding|CODING|ENST00000291688|exon_21_47666542_47666800 0/1:99:195,0,234 . . . 21 47666744 rs17183220 G T NON_SYNONYMOUS_CODING MCM3AP MODERATE|MISSENSE|gaC/gaA|D1449E|1980|MCM3AP|protein_coding|CODING|ENST00000397708|exon_21_47666542_47666800 0/1:99:195,0,234 . . . 21 47704152 rs147565274 T A NON_SYNONYMOUS_CODING MCM3AP MODERATE|MISSENSE|aAg/aTg|K350M|1980|MCM3AP|protein_coding|CODING|ENST00000291688|exon_21_47703982_47705236 0/1:99:255,0,149 . . . 21 47704152 rs147565274 T A NON_SYNONYMOUS_CODING MCM3AP MODERATE|MISSENSE|aAg/aTg|K350M|1980|MCM3AP|protein_coding|CODING|ENST00000397708|exon_21_47703982_47705308 0/1:99:255,0,149 . . . 21 47766113 rs34500739 T G NON_SYNONYMOUS_CODING PCNT MODERATE|MISSENSE|caT/caG|H224Q|736|PCNT|protein_coding|CODING|ENST00000337772|exon_21_47766042_47766122 0/1:99:136,0,184 . . . 21 47766113 rs34500739 T G NON_SYNONYMOUS_CODING PCNT MODERATE|MISSENSE|caT/caG|H237Q|3336|PCNT|protein_coding|CODING|ENST00000359568|exon_21_47766042_47766122 0/1:99:136,0,184 . . . 21 47831509 rs35940413 A G NON_SYNONYMOUS_CODING PCNT MODERATE|MISSENSE|aAt/aGt|N1841S|3336|PCNT|protein_coding|CODING|ENST00000359568|exon_21_47831103_47831981 0/1:99:183,0,253 . . . 21 47831685 . C T NON_SYNONYMOUS_CODING PCNT MODERATE|MISSENSE|Cgc/Tgc|R1900C|3336|PCNT|protein_coding|CODING|ENST00000359568|exon_21_47831103_47831981 0/1:99:118,0,224 . . . 21 47831845 rs34268261 G A NON_SYNONYMOUS_CODING PCNT MODERATE|MISSENSE|cGc/cAc|R1953H|3336|PCNT|protein_coding|CODING|ENST00000359568|exon_21_47831103_47831981 0/1:99:237,0,148 . . . 21 47836122 rs2839245 T C NON_SYNONYMOUS_CODING PCNT MODERATE|MISSENSE|cTg/cCg|L2097P|3336|PCNT|protein_coding|CODING|ENST00000359568|exon_21_47835983_47836753 0/1:99:197,0,243 . . . 21 47836206 rs35978208 A C NON_SYNONYMOUS_CODING PCNT MODERATE|MISSENSE|cAc/cCc|H2125P|3336|PCNT|protein_coding|CODING|ENST00000359568|exon_21_47835983_47836753 0/1:99:228,0,171 . . . 21 47836395 rs1044998 T G NON_SYNONYMOUS_CODING PCNT MODERATE|MISSENSE|aTg/aGg|M2188R|3336|PCNT|protein_coding|CODING|ENST00000359568|exon_21_47835983_47836753 0/1:99:200,0,255 . . . 21 47836547 rs35346764 T C NON_SYNONYMOUS_CODING PCNT MODERATE|MISSENSE|Tgg/Cgg|W2239R|3336|PCNT|protein_coding|CODING|ENST00000359568|exon_21_47835983_47836753 0/1:99:194,0,139 . . . 21 47838182 rs35848602 C G NON_SYNONYMOUS_CODING PCNT MODERATE|MISSENSE|cCt/cGt|P2329R|3336|PCNT|protein_coding|CODING|ENST00000359568|exon_21_47838118_47838220 0/1:99:255,0,255 . . . 21 47841941 rs7277175 A G NON_SYNONYMOUS_CODING PCNT MODERATE|MISSENSE|cAa/cGa|Q2361R|3336|PCNT|protein_coding|CODING|ENST00000359568|exon_21_47841884_47842038 0/1:99:200,0,238 . . . 21 47848459 rs2839256 G A NON_SYNONYMOUS_CODING PCNT MODERATE|MISSENSE|Gca/Aca|A2549T|3336|PCNT|protein_coding|CODING|ENST00000359568|exon_21_47848309_47848504 0/1:99:162,0,227 . . . 21 47848466 rs12481791 C T NON_SYNONYMOUS_CODING PCNT MODERATE|MISSENSE|gCg/gTg|A2551V|3336|PCNT|protein_coding|CODING|ENST00000359568|exon_21_47848309_47848504 . . . 0/1:99:226,0,206 21 47851636 rs743346 G A NON_SYNONYMOUS_CODING PCNT MODERATE|MISSENSE|cGc/cAc|R2753H|3336|PCNT|protein_coding|CODING|ENST00000359568|exon_21_47851443_47852129 0/1:99:197,0,221 . . . 21 47852085 rs35147998 G A NON_SYNONYMOUS_CODING PCNT MODERATE|MISSENSE|Gct/Act|A2903T|3336|PCNT|protein_coding|CODING|ENST00000359568|exon_21_47851443_47852129 . 0/1:99:240,0,175 . . 21 47855989 rs35881595 T C NON_SYNONYMOUS_CODING PCNT MODERATE|MISSENSE|cTg/cCg|L2975P|3336|PCNT|protein_coding|CODING|ENST00000359568|exon_21_47855817_47856061 0/1:78:253,0,75 . . . 21 47858248 rs4818842 A G NON_SYNONYMOUS_CODING PCNT MODERATE|MISSENSE|Agc/Ggc|S3091G|3336|PCNT|protein_coding|CODING|ENST00000359568|exon_21_47858077_47858250 . 0/1:99:255,0,197 . . 21 47971624 rs201810968 G A NON_SYNONYMOUS_CODING DIP2A MODERATE|MISSENSE|Gcc/Acc|A909T|1110|DIP2A|protein_coding|CODING|ENST00000427143|exon_21_47971547_47971656 . . . 0/1:98:95,0,231 21 47971624 rs201810968 G A NON_SYNONYMOUS_CODING DIP2A MODERATE|MISSENSE|Gcc/Acc|A969T|1567|DIP2A|protein_coding|CODING|ENST00000400274|exon_21_47971547_47971656 . . . 0/1:98:95,0,231 21 47971624 rs201810968 G A NON_SYNONYMOUS_CODING DIP2A MODERATE|MISSENSE|Gcc/Acc|A973T|1571|DIP2A|protein_coding|CODING|ENST00000417564|exon_21_47971547_47971656 . . . 0/1:98:95,0,231 21 47971624 rs201810968 G A NON_SYNONYMOUS_CODING DIP2A MODERATE|MISSENSE|Gcc/Acc|A974T|1572|DIP2A|protein_coding|CODING|ENST00000318711|exon_21_47971547_47971656 . . . 0/1:98:95,0,231 22 16157648 . CCTTCTTCT CCTTCT CODON_DELETION AP000525.1 MODERATE||aga/-|R95-|210|AP000525.1|protein_coding|CODING|ENST00000383146|exon_22_16157306_16157938 . . 0/1:24:90,0,21 . 22 17450929 rs61741409 C T NON_SYNONYMOUS_CODING GAB4 MODERATE|MISSENSE|Gca/Aca|A281T|574|GAB4|protein_coding|CODING|ENST00000400588|exon_22_17450833_17451083 . 0/1:99:190,0,253 . . 22 17450952 rs11703655 A G NON_SYNONYMOUS_CODING GAB4 MODERATE|MISSENSE|cTt/cCt|L273P|574|GAB4|protein_coding|CODING|ENST00000400588|exon_22_17450833_17451083 . 0/1:99:172,0,228 . . 22 17468918 rs144427521 C A NON_SYNONYMOUS_CODING GAB4 MODERATE|MISSENSE|tgG/tgT|W206C|574|GAB4|protein_coding|CODING|ENST00000400588|exon_22_17468850_17469057 . . . 0/1:99:222,0,143 22 17589794 rs12484684 C A NON_SYNONYMOUS_CODING IL17RA MODERATE|MISSENSE|cCg/cAg|P510Q|814|IL17RA|protein_coding|CODING|ENST00000425985|exon_22_17589197_17590825 0/1:99:110,0,243 . . . 22 17589794 rs12484684 C A NON_SYNONYMOUS_CODING IL17RA MODERATE|MISSENSE|cCg/cAg|P562Q|866|IL17RA|protein_coding|CODING|ENST00000319363|exon_22_17589197_17596583 0/1:99:110,0,243 . . . 22 18021936 rs62623401 A G NON_SYNONYMOUS_CODING CECR2 MODERATE|MISSENSE|Atg/Gtg|M539V|1300|CECR2|protein_coding|CODING|ENST00000400585|exon_22_18021846_18022692 . 0/1:99:174,0,244 . . 22 18021936 rs62623401 A G NON_SYNONYMOUS_CODING CECR2 MODERATE|MISSENSE|Atg/Gtg|M680V|1442|CECR2|protein_coding|CODING|ENST00000400573|exon_22_18021846_18022692 . 0/1:99:174,0,244 . . 22 18021936 rs62623401 A G NON_SYNONYMOUS_CODING CECR2 MODERATE|MISSENSE|Atg/Gtg|M681V|1443|CECR2|protein_coding|CODING|ENST00000262608|exon_22_18021846_18022692 . 0/1:99:174,0,244 . . 22 18209920 rs9306198 C T NON_SYNONYMOUS_CODING BCL2L13 MODERATE|MISSENSE|Cct/Tct|P198S|323|BCL2L13|protein_coding|CODING|ENST00000337612|exon_22_18209443_18210428 . 0/1:99:218,0,254 . . 22 18209920 rs9306198 C T NON_SYNONYMOUS_CODING BCL2L13 MODERATE|MISSENSE|Cct/Tct|P198S|323|BCL2L13|protein_coding|CODING|ENST00000543133|exon_22_18209443_18211465 . 0/1:99:218,0,254 . . 22 18209920 rs9306198 C T NON_SYNONYMOUS_CODING BCL2L13 MODERATE|MISSENSE|Cct/Tct|P236S|361|BCL2L13|protein_coding|CODING|ENST00000538149|exon_22_18209443_18210466 . 0/1:99:218,0,254 . . 22 18209920 rs9306198 C T NON_SYNONYMOUS_CODING BCL2L13 MODERATE|MISSENSE|Cct/Tct|P360S|485|BCL2L13|protein_coding|CODING|ENST00000317582|exon_22_18209443_18211487 . 0/1:99:218,0,254 . . 22 18226764 rs8190315 T C NON_SYNONYMOUS_CODING BID MODERATE|MISSENSE|Agc/Ggc|S10G|137|BID|protein_coding|CODING|ENST00000342111|exon_22_18226569_18226779 0/1:99:181,0,255 . . . 22 18226764 rs8190315 T C NON_SYNONYMOUS_CODING BID MODERATE|MISSENSE|Agc/Ggc|S10G|195|BID|protein_coding|CODING|ENST00000399774|exon_22_18226569_18226779 0/1:99:181,0,255 . . . 22 18226764 rs8190315 T C NON_SYNONYMOUS_CODING BID MODERATE|MISSENSE|Agc/Ggc|S10G|195|BID|protein_coding|CODING|ENST00000551952|exon_22_18226569_18226779 0/1:99:181,0,255 . . . 22 18226764 rs8190315 T C NON_SYNONYMOUS_CODING BID MODERATE|MISSENSE|Agc/Ggc|S56G|241|BID|protein_coding|CODING|ENST00000317361|exon_22_18226569_18226779 0/1:99:181,0,255 . . . 22 18566288 rs12484657 C G NON_SYNONYMOUS_CODING PEX26 MODERATE|MISSENSE|Ctt/Gtt|L153V|256|PEX26|protein_coding|CODING|ENST00000428061|exon_22_18566203_18566498 . . 0/1:99:255,0,237 . 22 18566288 rs12484657 C G NON_SYNONYMOUS_CODING PEX26 MODERATE|MISSENSE|Ctt/Gtt|L153V|305|PEX26|protein_coding|CODING|ENST00000329627|exon_22_18566203_18566498 . . 0/1:99:255,0,237 . 22 18566288 rs12484657 C G NON_SYNONYMOUS_CODING PEX26 MODERATE|MISSENSE|Ctt/Gtt|L153V|305|PEX26|protein_coding|CODING|ENST00000399744|exon_22_18566203_18566498 . . 0/1:99:255,0,237 . 22 18566288 rs12484657 C G NON_SYNONYMOUS_CODING PEX26 MODERATE|MISSENSE|Ctt/Gtt|L153V|365|PEX26|protein_coding|CODING|ENST00000399746|exon_22_18566203_18566498 . . 0/1:99:255,0,237 . 22 18650682 rs3180408 C T NON_SYNONYMOUS_CODING USP18 MODERATE|MISSENSE|aCg/aTg|T169M|372|USP18|protein_coding|CODING|ENST00000215794|exon_22_18650657_18650803 . . . 0/1:99:134,0,184 22 18650682 rs3180408 C T NON_SYNONYMOUS_CODING USP18 MODERATE|MISSENSE|aCg/aTg|T1M|243|USP18|protein_coding|CODING|ENST00000441683|exon_22_18650657_18650803 . . . 0/1:99:134,0,184 22 18874486 rs3970579 C T NON_SYNONYMOUS_CODING AC008103.1 MODERATE|MISSENSE|aGg/aAg|R18K|125|AC008103.1|protein_coding|CODING|ENST00000424147|exon_22_18874452_18874510 . 1/1:21:77,12,0 . . 22 18897756 rs28480136 C G NON_SYNONYMOUS_CODING DGCR6 MODERATE|MISSENSE|Ctt/Gtt|L115V|220|DGCR6|protein_coding|CODING|ENST00000331444|exon_22_18897685_18897785 0/1:99:121,0,198 . . . 22 18897756 rs28480136 C G NON_SYNONYMOUS_CODING DGCR6 MODERATE|MISSENSE|Ctt/Gtt|L35V|140|DGCR6|protein_coding|CODING|ENST00000436645|exon_22_18897685_18897785 0/1:99:121,0,198 . . . 22 18905842 rs2870983 C T NON_SYNONYMOUS_CODING PRODH MODERATE|MISSENSE|Gcc/Acc|A117T|245|PRODH|protein_coding|CODING|ENST00000313755|exon_22_18905829_18906004 0/1:99:153,0,169 . . . 22 18905842 rs2870983 C T NON_SYNONYMOUS_CODING PRODH MODERATE|MISSENSE|Gcc/Acc|A472T|600|PRODH|protein_coding|CODING|ENST00000357068|exon_22_18905829_18906004 0/1:99:153,0,169 . . . 22 19048387 rs73157299 C T NON_SYNONYMOUS_CODING DGCR2 MODERATE|MISSENSE|gGa/gAa|G233E|269|DGCR2|protein_coding|CODING|ENST00000545799|exon_22_19048079_19048468 . . 0/1:99:226,0,96 . 22 19119502 rs56279111 A G NON_SYNONYMOUS_CODING TSSK2 MODERATE|MISSENSE|tAt/tGt|Y197C|358|TSSK2|protein_coding|CODING|ENST00000399635|exon_22_19118321_19120134 0/1:99:246,0,255 . . . 22 19198017 rs117542241 T A NON_SYNONYMOUS_CODING CLTCL1 MODERATE|MISSENSE|aAt/aTt|N1023I|1583|CLTCL1|protein_coding|CODING|ENST00000353891|exon_22_19197836_19198019 . . . 0/1:99:255,0,116 22 19198017 rs117542241 T A NON_SYNONYMOUS_CODING CLTCL1 MODERATE|MISSENSE|aAt/aTt|N1023I|1640|CLTCL1|protein_coding|CODING|ENST00000263200|exon_22_19197836_19198019 . . . 0/1:99:255,0,116 22 19198017 rs117542241 T A NON_SYNONYMOUS_CODING CLTCL1 MODERATE|MISSENSE|aAt/aTt|N1023I|1640|CLTCL1|protein_coding|CODING|ENST00000427926|exon_22_19197836_19198019 . . . 0/1:99:255,0,116 22 19279160 . G A NON_SYNONYMOUS_CODING CLTCL1 MODERATE|MISSENSE|gCg/gTg|A2V|1583|CLTCL1|protein_coding|CODING|ENST00000353891|exon_22_19279123_19279208 . . . 0/1:79:76,0,130 22 19279160 . G A NON_SYNONYMOUS_CODING CLTCL1 MODERATE|MISSENSE|gCg/gTg|A2V|1640|CLTCL1|protein_coding|CODING|ENST00000263200|exon_22_19279123_19279237 . . . 0/1:79:76,0,130 22 19279160 . G A NON_SYNONYMOUS_CODING CLTCL1 MODERATE|MISSENSE|gCg/gTg|A2V|1640|CLTCL1|protein_coding|CODING|ENST00000427926|exon_22_19279123_19279239 . . . 0/1:79:76,0,130 22 19279160 . G A NON_SYNONYMOUS_CODING CLTCL1 MODERATE|MISSENSE|gCg/gTg|A2V|168|CLTCL1|protein_coding|CODING|ENST00000449918|exon_22_19279123_19279239 . . . 0/1:79:76,0,130 22 19420109 rs1128399 T C NON_SYNONYMOUS_CODING MRPL40 MODERATE|MISSENSE|cTa/cCa|L11P|206|MRPL40|protein_coding|CODING|ENST00000333130|exon_22_19419425_19420130 . 0/1:99:229,0,233 . . 22 19423250 rs7575 G A NON_SYNONYMOUS_CODING MRPL40 MODERATE|MISSENSE|cGt/cAt|R129H|206|MRPL40|protein_coding|CODING|ENST00000333130|exon_22_19423161_19423598 . 0/1:99:184,0,255 . . 22 19455430 rs17744624 G C NON_SYNONYMOUS_CODING UFD1L MODERATE|MISSENSE|Cct/Gct|P119A|189|UFD1L|protein_coding|CODING|ENST00000421968|exon_22_19455396_19455526 . . . 0/1:99:202,0,198 22 19455430 rs17744624 G C NON_SYNONYMOUS_CODING UFD1L MODERATE|MISSENSE|Cct/Gct|P119A|296|UFD1L|protein_coding|CODING|ENST00000360834|exon_22_19455396_19455526 . . . 0/1:99:202,0,198 22 19455430 rs17744624 G C NON_SYNONYMOUS_CODING UFD1L MODERATE|MISSENSE|Cct/Gct|P125A|134|UFD1L|protein_coding|CODING|ENST00000494054|exon_22_19455396_19455526 . . . 0/1:99:202,0,198 22 19455430 rs17744624 G C NON_SYNONYMOUS_CODING UFD1L MODERATE|MISSENSE|Cct/Gct|P130A|266|UFD1L|protein_coding|CODING|ENST00000399523|exon_22_19455396_19455526 . . . 0/1:99:202,0,198 22 19455430 rs17744624 G C NON_SYNONYMOUS_CODING UFD1L MODERATE|MISSENSE|Cct/Gct|P130A|307|UFD1L|protein_coding|CODING|ENST00000263202|exon_22_19455396_19455526 . . . 0/1:99:202,0,198 22 19455430 rs17744624 G C NON_SYNONYMOUS_CODING UFD1L MODERATE|MISSENSE|Cct/Gct|P166A|343|UFD1L|protein_coding|CODING|ENST00000399525|exon_22_19455396_19455526 . . . 0/1:99:202,0,198 22 19455430 rs17744624 G C NON_SYNONYMOUS_CODING UFD1L MODERATE|MISSENSE|Cct/Gct|P34A|158|UFD1L|protein_coding|CODING|ENST00000447868|exon_22_19455396_19455526 . . . 0/1:99:202,0,198 22 19455430 rs17744624 G C NON_SYNONYMOUS_CODING UFD1L MODERATE|MISSENSE|Cct/Gct|P66A|68|UFD1L|protein_coding|CODING|ENST00000474226|exon_22_19455418_19455526 . . . 0/1:99:202,0,198 22 19808769 rs5748449 C T NON_SYNONYMOUS_CODING GNB1L MODERATE|MISSENSE|cGc/cAc|R37H|212|GNB1L|protein_coding|CODING|ENST00000405009|exon_22_19808751_19808898 . 0/1:99:234,0,209 . 1/1:99:255,72,0 22 19808769 rs5748449 C T NON_SYNONYMOUS_CODING GNB1L MODERATE|MISSENSE|cGc/cAc|R37H|327|GNB1L|protein_coding|CODING|ENST00000329517|exon_22_19808751_19808898 . 0/1:99:234,0,209 . 1/1:99:255,72,0 22 19808769 rs5748449 C T NON_SYNONYMOUS_CODING GNB1L MODERATE|MISSENSE|cGc/cAc|R37H|327|GNB1L|protein_coding|CODING|ENST00000403325|exon_22_19808751_19808898 . 0/1:99:234,0,209 . 1/1:99:255,72,0 22 19808769 rs5748449 C T NON_SYNONYMOUS_CODING GNB1L MODERATE|MISSENSE|cGc/cAc|R37H|92|GNB1L|protein_coding|CODING|ENST00000453108|exon_22_19808751_19808898 . 0/1:99:234,0,209 . 1/1:99:255,72,0 22 19839438 rs17745302 C T NON_SYNONYMOUS_CODING C22orf29 MODERATE|MISSENSE|cGc/cAc|R116H|364|C22orf29|protein_coding|CODING|ENST00000328554|exon_22_19833669_19840009 . 0/1:99:240,0,255 . . 22 19839438 rs17745302 C T NON_SYNONYMOUS_CODING C22orf29 MODERATE|MISSENSE|cGc/cAc|R116H|364|C22orf29|protein_coding|CODING|ENST00000405640|exon_22_19833669_19840009 . 0/1:99:240,0,255 . . 22 19839438 rs17745302 C T NON_SYNONYMOUS_CODING C22orf29 MODERATE|MISSENSE|cGc/cAc|R116H|364|C22orf29|protein_coding|CODING|ENST00000407472|exon_22_19833661_19840009 . 0/1:99:240,0,255 . . 22 20101289 rs146579566 C T NON_SYNONYMOUS_CODING TRMT2A MODERATE|MISSENSE|Gac/Aac|D426N|562|TRMT2A|protein_coding|CODING|ENST00000404751|exon_22_20101209_20101331 . . 0/1:99:210,0,221 . 22 20101289 rs146579566 C T NON_SYNONYMOUS_CODING TRMT2A MODERATE|MISSENSE|Gac/Aac|D426N|625|TRMT2A|protein_coding|CODING|ENST00000252136|exon_22_20101209_20101331 . . 0/1:99:210,0,221 . 22 20101289 rs146579566 C T NON_SYNONYMOUS_CODING TRMT2A MODERATE|MISSENSE|Gac/Aac|D426N|625|TRMT2A|protein_coding|CODING|ENST00000403707|exon_22_20101209_20101331 . . 0/1:99:210,0,221 . 22 20101289 rs146579566 C T NON_SYNONYMOUS_CODING TRMT2A MODERATE|MISSENSE|Gac/Aac|D426N|643|TRMT2A|protein_coding|CODING|ENST00000439169|exon_22_20101209_20101331 . . 0/1:99:210,0,221 . 22 20103263 rs9605067 G T NON_SYNONYMOUS_CODING TRMT2A MODERATE|MISSENSE|Ctc/Atc|L214I|562|TRMT2A|protein_coding|CODING|ENST00000404751|exon_22_20103195_20103303 . 0/1:99:231,0,217 . . 22 20103263 rs9605067 G T NON_SYNONYMOUS_CODING TRMT2A MODERATE|MISSENSE|Ctc/Atc|L214I|625|TRMT2A|protein_coding|CODING|ENST00000252136|exon_22_20103195_20103303 . 0/1:99:231,0,217 . . 22 20103263 rs9605067 G T NON_SYNONYMOUS_CODING TRMT2A MODERATE|MISSENSE|Ctc/Atc|L214I|625|TRMT2A|protein_coding|CODING|ENST00000403707|exon_22_20103195_20103303 . 0/1:99:231,0,217 . . 22 20103263 rs9605067 G T NON_SYNONYMOUS_CODING TRMT2A MODERATE|MISSENSE|Ctc/Atc|L214I|643|TRMT2A|protein_coding|CODING|ENST00000439169|exon_22_20103195_20103303 . 0/1:99:231,0,217 . . 22 20110154 . G T NON_SYNONYMOUS_CODING RANBP1 MODERATE|MISSENSE|Ggt/Tgt|G9C|128|RANBP1|protein_coding|CODING|ENST00000448394|exon_22_20110130_20110220 . . . 0/1:99:117,0,107 22 20302276 rs1056804 A T NON_SYNONYMOUS_CODING DGCR6L MODERATE|MISSENSE|aaT/aaA|N157K|182|DGCR6L|protein_coding|CODING|ENST00000405465|exon_22_20301806_20302347 0/1:99:217,0,186 . . . 22 20302276 rs1056804 A T NON_SYNONYMOUS_CODING DGCR6L MODERATE|MISSENSE|aaT/aaA|N195K|220|DGCR6L|protein_coding|CODING|ENST00000248879|exon_22_20301799_20302347 0/1:99:217,0,186 . . . 22 20303664 rs113468394 G A NON_SYNONYMOUS_CODING DGCR6L MODERATE|MISSENSE|gCg/gTg|A117V|220|DGCR6L|protein_coding|CODING|ENST00000248879|exon_22_20303642_20303742 0/1:99:184,0,238 . . . 22 20723808 rs118160925 C T NON_SYNONYMOUS_CODING USP41 MODERATE|MISSENSE|Gac/Aac|D180N|356|USP41|protein_coding|CODING|ENST00000454608|exon_22_20723719_20723865 . 0/1:99:217,0,255 . . 22 20781732 rs150853613 G A NON_SYNONYMOUS_CODING SCARF2 MODERATE|MISSENSE|tCg/tTg|S549L|864|SCARF2|protein_coding|CODING|ENST00000341328|exon_22_20781685_20781837 . 0/1:99:155,0,206 . . 22 20781732 rs150853613 G A NON_SYNONYMOUS_CODING SCARF2 MODERATE|MISSENSE|tCg/tTg|S549L|865|SCARF2|protein_coding|CODING|ENST00000405555|exon_22_20781685_20781837 . 0/1:99:155,0,206 . . 22 20781732 rs150853613 G A NON_SYNONYMOUS_CODING SCARF2 MODERATE|MISSENSE|tCg/tTg|S554L|870|SCARF2|protein_coding|CODING|ENST00000266214|exon_22_20781685_20781837 . 0/1:99:155,0,206 . . 22 20847472 rs5755677 A T NON_SYNONYMOUS_CODING KLHL22 MODERATE|MISSENSE|cTt/cAt|L11H|250|KLHL22|protein_coding|CODING|ENST00000443285|exon_22_20847435_20847504 0/1:99:234,0,233 . . . 22 21576483 . C G NON_SYNONYMOUS_CODING GGT2 MODERATE|MISSENSE|gGc/gCc|G62A|559|GGT2|protein_coding|CODING|ENST00000405188|exon_22_21576373_21576503 . . 0/1:75:96,0,72 . 22 21576483 . C G NON_SYNONYMOUS_CODING GGT2 MODERATE|MISSENSE|gGc/gCc|G62A|569|GGT2|protein_coding|CODING|ENST00000401924|exon_22_21576373_21576503 . . 0/1:75:96,0,72 . 22 21576483 . C G NON_SYNONYMOUS_CODING GGT2 MODERATE|MISSENSE|gGc/gCc|G62A|569|GGT2|protein_coding|CODING|ENST00000424627|exon_22_21576373_21576503 . . 0/1:75:96,0,72 . 22 21579692 . A G NON_SYNONYMOUS_CODING GGT2 MODERATE|MISSENSE|tTg/tCg|L51S|559|GGT2|protein_coding|CODING|ENST00000405188|exon_22_21579680_21579843 . . . 0/1:69:66,0,115 22 21579692 . A G NON_SYNONYMOUS_CODING GGT2 MODERATE|MISSENSE|tTg/tCg|L51S|569|GGT2|protein_coding|CODING|ENST00000401924|exon_22_21579680_21579850 . . . 0/1:69:66,0,115 22 21579692 . A G NON_SYNONYMOUS_CODING GGT2 MODERATE|MISSENSE|tTg/tCg|L51S|569|GGT2|protein_coding|CODING|ENST00000424627|exon_22_21579680_21579850 . . . 0/1:69:66,0,115 22 21579717 . T C NON_SYNONYMOUS_CODING GGT2 MODERATE|MISSENSE|Atg/Gtg|M43V|559|GGT2|protein_coding|CODING|ENST00000405188|exon_22_21579680_21579843 . . . 1/1:63:141,33,0 22 21579717 . T C NON_SYNONYMOUS_CODING GGT2 MODERATE|MISSENSE|Atg/Gtg|M43V|569|GGT2|protein_coding|CODING|ENST00000401924|exon_22_21579680_21579850 . . . 1/1:63:141,33,0 22 21579717 . T C NON_SYNONYMOUS_CODING GGT2 MODERATE|MISSENSE|Atg/Gtg|M43V|569|GGT2|protein_coding|CODING|ENST00000424627|exon_22_21579680_21579850 . . . 1/1:63:141,33,0 22 21800269 rs80230662 C T NON_SYNONYMOUS_CODING HIC2 MODERATE|MISSENSE|cCg/cTg|P362L|615|HIC2|protein_coding|CODING|ENST00000407464|exon_22_21799211_21805752 . 0/1:99:197,0,227 0/1:99:240,0,253 . 22 21800269 rs80230662 C T NON_SYNONYMOUS_CODING HIC2 MODERATE|MISSENSE|cCg/cTg|P362L|615|HIC2|protein_coding|CODING|ENST00000407598|exon_22_21799211_21803723 . 0/1:99:197,0,227 0/1:99:240,0,253 . 22 21800269 rs80230662 C T NON_SYNONYMOUS_CODING HIC2 MODERATE|MISSENSE|cCg/cTg|P362L|615|HIC2|protein_coding|CODING|ENST00000443632|exon_22_21799211_21805752 . 0/1:99:197,0,227 0/1:99:240,0,253 . 22 21988524 rs861854 C T NON_SYNONYMOUS_CODING CCDC116 MODERATE|MISSENSE|Cgc/Tgc|R96C|613|CCDC116|protein_coding|CODING|ENST00000292779|exon_22_21988311_21988859 0/1:99:181,0,137 . . . 22 21988599 rs371513 G A NON_SYNONYMOUS_CODING CCDC116 MODERATE|MISSENSE|Gga/Aga|G121R|613|CCDC116|protein_coding|CODING|ENST00000292779|exon_22_21988311_21988859 . . 0/1:99:255,0,201 . 22 21988602 rs861853 C T NON_SYNONYMOUS_CODING CCDC116 MODERATE|MISSENSE|Cgg/Tgg|R122W|613|CCDC116|protein_coding|CODING|ENST00000292779|exon_22_21988311_21988859 0/1:99:192,0,138 . . . 22 21988833 rs12170285 C T NON_SYNONYMOUS_CODING CCDC116 MODERATE|MISSENSE|Cgg/Tgg|R199W|613|CCDC116|protein_coding|CODING|ENST00000292779|exon_22_21988311_21988859 . 0/1:99:189,0,235 . . 22 21989142 rs35113423 G A NON_SYNONYMOUS_CODING CCDC116 MODERATE|MISSENSE|Gag/Aag|E264K|613|CCDC116|protein_coding|CODING|ENST00000292779|exon_22_21988974_21989555 . . 0/1:99:255,0,135 . 22 21989325 rs730882 C T NON_SYNONYMOUS_CODING CCDC116 MODERATE|MISSENSE|Cgt/Tgt|R325C|613|CCDC116|protein_coding|CODING|ENST00000292779|exon_22_21988974_21989555 . 0/1:99:224,0,237 . . 22 21990823 rs11705259 G A NON_SYNONYMOUS_CODING CCDC116 MODERATE|MISSENSE|Gcc/Acc|A436T|613|CCDC116|protein_coding|CODING|ENST00000292779|exon_22_21990721_21991616 . . 0/1:99:199,0,191 . 22 21991072 rs861852 T C NON_SYNONYMOUS_CODING CCDC116 MODERATE|MISSENSE|Tgc/Cgc|C519R|613|CCDC116|protein_coding|CODING|ENST00000292779|exon_22_21990721_21991616 0/1:99:181,0,194 0/1:99:255,0,255 0/1:99:105,0,201 . 22 21991120 rs11705317 G A NON_SYNONYMOUS_CODING CCDC116 MODERATE|MISSENSE|Gcc/Acc|A535T|613|CCDC116|protein_coding|CODING|ENST00000292779|exon_22_21990721_21991616 . . 0/1:99:131,0,156 . 22 22599537 rs1320 G A NON_SYNONYMOUS_CODING VPREB1 MODERATE|MISSENSE|Gac/Aac|D75N|144|VPREB1|protein_coding|CODING|ENST00000302273|exon_22_22599372_22599917 . 0/1:99:148,0,255 . . 22 22599537 rs1320 G A NON_SYNONYMOUS_CODING VPREB1 MODERATE|MISSENSE|Gac/Aac|D76N|145|VPREB1|protein_coding|CODING|ENST00000403807|exon_22_22599358_22599927 . 0/1:99:148,0,255 . . 22 23406099 rs149201608 G A NON_SYNONYMOUS_CODING RTDR1 MODERATE|MISSENSE|Cgt/Tgt|R212C|348|RTDR1|protein_coding|CODING|ENST00000216036|exon_22_23406080_23406311 0/1:99:255,0,122 . . . 22 23915610 rs111903752 A T NON_SYNONYMOUS_CODING IGLL1 MODERATE|MISSENSE|aTg/aAg|M162K|213|IGLL1|protein_coding|CODING|ENST00000330377|exon_22_23915312_23915772 0/1:99:198,0,184 . . . 22 23915610 rs111903752 A T NON_SYNONYMOUS_CODING IGLL1 MODERATE|MISSENSE|aTg/aAg|M163K|179|IGLL1|protein_coding|CODING|ENST00000438703|exon_22_23915556_23915772 0/1:99:198,0,184 . . . 22 23915652 rs73157031 G A NON_SYNONYMOUS_CODING IGLL1 MODERATE|MISSENSE|aCc/aTc|T148I|213|IGLL1|protein_coding|CODING|ENST00000330377|exon_22_23915312_23915772 0/1:99:217,0,249 . . . 22 23915652 rs73157031 G A NON_SYNONYMOUS_CODING IGLL1 MODERATE|MISSENSE|aCc/aTc|T149I|179|IGLL1|protein_coding|CODING|ENST00000438703|exon_22_23915556_23915772 0/1:99:217,0,249 . . . 22 24107644 rs118072813 G A NON_SYNONYMOUS_CODING C22orf15 MODERATE|MISSENSE|Ggg/Agg|G141R|142|C22orf15|protein_coding|CODING|ENST00000382821|exon_22_24107564_24107644 . . . 0/1:99:218,0,255 22 24107644 rs118072813 G A NON_SYNONYMOUS_CODING C22orf15 MODERATE|MISSENSE|Ggt/Agt|G141S|141|C22orf15|protein_coding|CODING|ENST00000336186|exon_22_24107564_24107649 . . . 0/1:99:218,0,255 22 24199704 rs16986337 C T NON_SYNONYMOUS_CODING SLC2A11 MODERATE|MISSENSE|Cgg/Tgg|R10W|366|SLC2A11|protein_coding|CODING|ENST00000398359|exon_22_24199608_24199718 0/1:99:139,0,138 0/1:96:146,0,93 . . 22 24199704 rs16986337 C T NON_SYNONYMOUS_CODING SLC2A11 MODERATE|MISSENSE|Cgg/Tgg|R10W|463|SLC2A11|protein_coding|CODING|ENST00000407566|exon_22_24199187_24199718 0/1:99:139,0,138 0/1:96:146,0,93 . . 22 24199704 rs16986337 C T NON_SYNONYMOUS_CODING SLC2A11 MODERATE|MISSENSE|Cgg/Tgg|R10W|503|SLC2A11|protein_coding|CODING|ENST00000398356|exon_22_24199608_24199718 0/1:99:139,0,138 0/1:96:146,0,93 . . 22 24226890 rs60699980 G A NON_SYNONYMOUS_CODING SLC2A11 MODERATE|MISSENSE|Gcc/Acc|A449T|496|SLC2A11|protein_coding|CODING|ENST00000345044|exon_22_24226836_24227723 . 0/1:99:253,0,232 . . 22 24226890 rs60699980 G A NON_SYNONYMOUS_CODING SLC2A11 MODERATE|MISSENSE|Gcc/Acc|A452T|499|SLC2A11|protein_coding|CODING|ENST00000316185|exon_22_24226836_24227054 . 0/1:99:253,0,232 . . 22 24226890 rs60699980 G A NON_SYNONYMOUS_CODING SLC2A11 MODERATE|MISSENSE|Gcc/Acc|A456T|503|SLC2A11|protein_coding|CODING|ENST00000398356|exon_22_24226836_24227723 . 0/1:99:253,0,232 . . 22 24226890 rs60699980 G A NON_SYNONYMOUS_CODING SLC2A11 MODERATE|MISSENSE|gGc/gAc|G455D|463|SLC2A11|protein_coding|CODING|ENST00000407566|exon_22_24226832_24227179 . 0/1:99:253,0,232 . . 22 24325062 rs78284383 G A NON_SYNONYMOUS_CODING GSTT2 MODERATE|MISSENSE|Gtg/Atg|V118M|230|GSTT2|protein_coding|CODING|ENST00000402588|exon_22_24325062_24325193 0/1:7:158,0,4 . . . 22 24325062 rs78284383 G A NON_SYNONYMOUS_CODING GSTT2 MODERATE|MISSENSE|Gtg/Atg|V118M|244|GSTT2|protein_coding|CODING|ENST00000215780|exon_22_24325062_24325235 0/1:7:158,0,4 . . . 22 24581672 rs149491824 G A NON_SYNONYMOUS_CODING SUSD2 MODERATE|MISSENSE|Ggg/Agg|G372R|822|SUSD2|protein_coding|CODING|ENST00000358321|exon_22_24581629_24581897 0/1:99:169,0,177 . . . 22 24622648 rs2275984 T C NON_SYNONYMOUS_CODING GGT5 MODERATE|MISSENSE|aAg/aGg|K245R|501|GGT5|protein_coding|CODING|ENST00000438024|exon_22_24622599_24622735 0/1:99:128,0,227 . . . 22 24622648 rs2275984 T C NON_SYNONYMOUS_CODING GGT5 MODERATE|MISSENSE|aAg/aGg|K253R|510|GGT5|protein_coding|CODING|ENST00000418439|exon_22_24622599_24622735 0/1:99:128,0,227 . . . 22 24622648 rs2275984 T C NON_SYNONYMOUS_CODING GGT5 MODERATE|MISSENSE|aAg/aGg|K298R|554|GGT5|protein_coding|CODING|ENST00000263112|exon_22_24622599_24622735 0/1:99:128,0,227 . . . 22 24622648 rs2275984 T C NON_SYNONYMOUS_CODING GGT5 MODERATE|MISSENSE|aAg/aGg|K330R|586|GGT5|protein_coding|CODING|ENST00000327365|exon_22_24622599_24622735 0/1:99:128,0,227 . . . 22 24622648 rs2275984 T C NON_SYNONYMOUS_CODING GGT5 MODERATE|MISSENSE|aAg/aGg|K330R|587|GGT5|protein_coding|CODING|ENST00000398292|exon_22_24622599_24622735 0/1:99:128,0,227 . . . 22 24718408 rs55723436 G A NON_SYNONYMOUS_CODING SPECC1L MODERATE|MISSENSE|cGc/cAc|R487H|1078|SPECC1L|protein_coding|CODING|ENST00000541492|exon_22_24717256_24718886 . . 0/1:99:221,0,255 . 22 24718408 rs55723436 G A NON_SYNONYMOUS_CODING SPECC1L MODERATE|MISSENSE|cGc/cAc|R487H|1117|SPECC1L|protein_coding|CODING|ENST00000314328|exon_22_24717256_24718886 . . 0/1:99:221,0,255 . 22 24718408 rs55723436 G A NON_SYNONYMOUS_CODING SPECC1L MODERATE|MISSENSE|cGc/cAc|R487H|1117|SPECC1L|protein_coding|CODING|ENST00000437398|exon_22_24717256_24718886 . . 0/1:99:221,0,255 . 22 24718408 rs55723436 G A NON_SYNONYMOUS_CODING SPECC1L MODERATE|MISSENSE|cGc/cAc|R487H|787|SPECC1L|protein_coding|CODING|ENST00000421374|exon_22_24717256_24718886 . . 0/1:99:221,0,255 . 22 24718408 rs55723436 G A NON_SYNONYMOUS_CODING SPECC1L MODERATE|MISSENSE|cGc/cAc|R515H|939|SPECC1L|protein_coding|CODING|ENST00000398280|exon_22_24717256_24718886 . . 0/1:99:221,0,255 . 22 25124155 rs148034582 C T NON_SYNONYMOUS_CODING PIWIL3 MODERATE|MISSENSE|Gtg/Atg|V523M|764|PIWIL3|protein_coding|CODING|ENST00000527701|exon_22_25124144_25124341 0/1:99:255,0,255 . . . 22 25124155 rs148034582 C T NON_SYNONYMOUS_CODING PIWIL3 MODERATE|MISSENSE|Gtg/Atg|V523M|764|PIWIL3|protein_coding|CODING|ENST00000533313|exon_22_25124144_25124341 0/1:99:255,0,255 . . . 22 25124155 rs148034582 C T NON_SYNONYMOUS_CODING PIWIL3 MODERATE|MISSENSE|Gtg/Atg|V641M|882|PIWIL3|protein_coding|CODING|ENST00000332271|exon_22_25124144_25124368 0/1:99:255,0,255 . . . 22 25144912 rs11703684 C T NON_SYNONYMOUS_CODING PIWIL3 MODERATE|MISSENSE|Gtt/Att|V362I|764|PIWIL3|protein_coding|CODING|ENST00000527701|exon_22_25144874_25144988 0/1:99:255,0,178 . . . 22 25144912 rs11703684 C T NON_SYNONYMOUS_CODING PIWIL3 MODERATE|MISSENSE|Gtt/Att|V362I|764|PIWIL3|protein_coding|CODING|ENST00000533313|exon_22_25144874_25144988 0/1:99:255,0,178 . . . 22 25144912 rs11703684 C T NON_SYNONYMOUS_CODING PIWIL3 MODERATE|MISSENSE|Gtt/Att|V471I|882|PIWIL3|protein_coding|CODING|ENST00000332271|exon_22_25144874_25144988 0/1:99:255,0,178 . . . 22 25315903 rs200983507 C T NON_SYNONYMOUS_CODING SGSM1 MODERATE|MISSENSE|Cgt/Tgt|R1046C|1093|SGSM1|protein_coding|CODING|ENST00000400358|exon_22_25315793_25315960 . . . 0/1:99:255,0,255 22 25315903 rs200983507 C T NON_SYNONYMOUS_CODING SGSM1 MODERATE|MISSENSE|Cgt/Tgt|R1101C|1148|SGSM1|protein_coding|CODING|ENST00000400359|exon_22_25315793_25315960 . . . 0/1:99:255,0,255 22 25315903 rs200983507 C T NON_SYNONYMOUS_CODING SGSM1 MODERATE|MISSENSE|Cgt/Tgt|R1101C|1148|SGSM1|protein_coding|CODING|ENST00000403206|exon_22_25315793_25315960 . . . 0/1:99:255,0,255 22 26157068 rs61734946 C G NON_SYNONYMOUS_CODING MYO18B MODERATE|MISSENSE|atC/atG|I3M|2567|MYO18B|protein_coding|CODING|ENST00000335473|exon_22_26156951_26157098 . . . 0/1:99:113,0,215 22 26157068 rs61734946 C G NON_SYNONYMOUS_CODING MYO18B MODERATE|MISSENSE|atC/atG|I3M|2567|MYO18B|protein_coding|CODING|ENST00000536101|exon_22_26156951_26157098 . . . 0/1:99:113,0,215 22 26157068 rs61734946 C G NON_SYNONYMOUS_CODING MYO18B MODERATE|MISSENSE|atC/atG|I3M|2568|MYO18B|protein_coding|CODING|ENST00000407587|exon_22_26156951_26157098 . . . 0/1:99:113,0,215 22 26422980 rs2236005 A G NON_SYNONYMOUS_CODING MYO18B MODERATE|MISSENSE|cAa/cGa|Q2347R|2567|MYO18B|protein_coding|CODING|ENST00000335473|exon_22_26422411_26423656 0/1:99:150,0,255 . . . 22 26422980 rs2236005 A G NON_SYNONYMOUS_CODING MYO18B MODERATE|MISSENSE|cAa/cGa|Q2347R|2567|MYO18B|protein_coding|CODING|ENST00000536101|exon_22_26422411_26423732 0/1:99:150,0,255 . . . 22 26422980 rs2236005 A G NON_SYNONYMOUS_CODING MYO18B MODERATE|MISSENSE|cAa/cGa|Q2348R|2568|MYO18B|protein_coding|CODING|ENST00000407587|exon_22_26422411_26423656 0/1:99:150,0,255 . . . 22 26906216 rs34764403 C T NON_SYNONYMOUS_CODING TFIP11 MODERATE|MISSENSE|cGg/cAg|R8Q|120|TFIP11|protein_coding|CODING|ENST00000455080|exon_22_26906030_26906247 . 0/1:99:230,0,245 . . 22 26906216 rs34764403 C T NON_SYNONYMOUS_CODING TFIP11 MODERATE|MISSENSE|cGg/cAg|R8Q|41|TFIP11|protein_coding|CODING|ENST00000440258|exon_22_26906111_26906247 . 0/1:99:230,0,245 . . 22 26906216 rs34764403 C T NON_SYNONYMOUS_CODING TFIP11 MODERATE|MISSENSE|cGg/cAg|R8Q|522|TFIP11|protein_coding|CODING|ENST00000442693|exon_22_26906134_26906238 . 0/1:99:230,0,245 . . 22 26906216 rs34764403 C T NON_SYNONYMOUS_CODING TFIP11 MODERATE|MISSENSE|cGg/cAg|R8Q|837|TFIP11|protein_coding|CODING|ENST00000405938|exon_22_26906030_26906247 . 0/1:99:230,0,245 . . 22 26906216 rs34764403 C T NON_SYNONYMOUS_CODING TFIP11 MODERATE|MISSENSE|cGg/cAg|R8Q|837|TFIP11|protein_coding|CODING|ENST00000407148|exon_22_26906030_26906247 . 0/1:99:230,0,245 . . 22 26906216 rs34764403 C T NON_SYNONYMOUS_CODING TFIP11 MODERATE|MISSENSE|cGg/cAg|R8Q|837|TFIP11|protein_coding|CODING|ENST00000407431|exon_22_26906030_26906247 . 0/1:99:230,0,245 . . 22 26906216 rs34764403 C T NON_SYNONYMOUS_CODING TFIP11 MODERATE|MISSENSE|cGg/cAg|R8Q|837|TFIP11|protein_coding|CODING|ENST00000407690|exon_22_26906030_26906247 . 0/1:99:230,0,245 . . 22 26906216 rs34764403 C T NON_SYNONYMOUS_CODING TFIP11 MODERATE|MISSENSE|cGg/cAg|R8Q|85|TFIP11|protein_coding|CODING|ENST00000420242|exon_22_26906030_26906247 . 0/1:99:230,0,245 . . 22 26906216 rs34764403 C T NON_SYNONYMOUS_CODING TFIP11 MODERATE|MISSENSE|cGg/cAg|R8Q|87|TFIP11|protein_coding|CODING|ENST00000418876|exon_22_26906030_26906247 . 0/1:99:230,0,245 . . 22 26937139 rs117701840 C T NON_SYNONYMOUS_CODING TPST2 MODERATE|MISSENSE|cGc/cAc|R153H|377|TPST2|protein_coding|CODING|ENST00000338754|exon_22_26936755_26937684 . 0/1:99:220,0,255 . . 22 26937139 rs117701840 C T NON_SYNONYMOUS_CODING TPST2 MODERATE|MISSENSE|cGc/cAc|R153H|377|TPST2|protein_coding|CODING|ENST00000398110|exon_22_26936755_26937684 . 0/1:99:220,0,255 . . 22 26937139 rs117701840 C T NON_SYNONYMOUS_CODING TPST2 MODERATE|MISSENSE|cGc/cAc|R153H|377|TPST2|protein_coding|CODING|ENST00000403880|exon_22_26936755_26937684 . 0/1:99:220,0,255 . . 22 26937139 rs117701840 C T NON_SYNONYMOUS_CODING TPST2 MODERATE|MISSENSE|cGc/cAc|R86H|310|TPST2|protein_coding|CODING|ENST00000528868|exon_22_26936755_26937402 . 0/1:99:220,0,255 . . 22 28310328 . C T NON_SYNONYMOUS_CODING PITPNB MODERATE|MISSENSE|Gtt/Att|V10I|271|PITPNB|protein_coding|CODING|ENST00000335272|exon_22_28310305_28310335 . 0/1:99:255,0,255 . . 22 28310328 . C T NON_SYNONYMOUS_CODING PITPNB MODERATE|MISSENSE|Gtt/Att|V10I|272|PITPNB|protein_coding|CODING|ENST00000320996|exon_22_28310305_28310335 . 0/1:99:255,0,255 . . 22 28310328 . C T NON_SYNONYMOUS_CODING PITPNB MODERATE|MISSENSE|Gtt/Att|V12I|166|PITPNB|protein_coding|CODING|ENST00000436663|exon_22_28310305_28310335 . 0/1:99:255,0,255 . . 22 28310328 . C T NON_SYNONYMOUS_CODING PITPNB MODERATE|MISSENSE|Gtt/Att|V12I|273|PITPNB|protein_coding|CODING|ENST00000455418|exon_22_28310305_28310335 . 0/1:99:255,0,255 . . 22 29533572 rs34920087 C G NON_SYNONYMOUS_CODING KREMEN1 MODERATE|MISSENSE|Ctg/Gtg|L290V|473|KREMEN1|protein_coding|CODING|ENST00000407188|exon_22_29533330_29533662 . . 0/1:99:255,0,239 0/1:99:255,0,255 22 29533572 rs34920087 C G NON_SYNONYMOUS_CODING KREMEN1 MODERATE|MISSENSE|Ctg/Gtg|L292V|458|KREMEN1|protein_coding|CODING|ENST00000400335|exon_22_29533330_29533662 . . 0/1:99:255,0,239 0/1:99:255,0,255 22 29533572 rs34920087 C G NON_SYNONYMOUS_CODING KREMEN1 MODERATE|MISSENSE|Ctg/Gtg|L292V|475|KREMEN1|protein_coding|CODING|ENST00000400338|exon_22_29533330_29533662 . . 0/1:99:255,0,239 0/1:99:255,0,255 22 29533572 rs34920087 C G NON_SYNONYMOUS_CODING KREMEN1 MODERATE|MISSENSE|Ctg/Gtg|L292V|492|KREMEN1|protein_coding|CODING|ENST00000327813|exon_22_29533330_29533662 . . 0/1:99:255,0,239 0/1:99:255,0,255 22 29885567 . AAAGTCCCCTGAGAAGGCCAAGTCCCC AAAGTCCCCTGAGAAGGCCAAGTCCCCTGAGAAGGCCAAGTCCCC CODON_CHANGE_PLUS_CODON_INSERTION NEFH MODERATE||cca/ccTGAGAAGGCCAAGTCCCCa|P655PEKAKSP|1020|NEFH|protein_coding|CODING|ENST00000310624|exon_22_29884838_29887379 . . . 1/1:57:189,30,0 22 29885567 . AAAGTCCCCTGAGAAGGCCAAGTCCCC AAAGTCCCCTGAGAAGGCCAAGTCCCCTGAGAAGGCCAAGTCCCC CODON_CHANGE_PLUS_CODON_INSERTION NEFH MODERATE||cca/ccTGAGAAGGCCAAGTCCCCa|P655PEKAKSP|971|NEFH|protein_coding|CODING|ENST00000328842|exon_22_29884838_29885871 . . . 1/1:57:189,30,0 22 29885598 . AAGGAAGAGG AAGG CODON_CHANGE_PLUS_CODON_DELETION NEFH MODERATE||gaagaggcc/gcc|EEA658A|1020|NEFH|protein_coding|CODING|ENST00000310624|exon_22_29884838_29887379 0/1:77:74,0,201 . . . 22 29885598 . AAGGAAGAGG AAGG CODON_CHANGE_PLUS_CODON_DELETION NEFH MODERATE||gaagaggcc/gcc|EEA658A|971|NEFH|protein_coding|CODING|ENST00000328842|exon_22_29884838_29885871 0/1:77:74,0,201 . . . 22 30163526 rs76013375 A G NON_SYNONYMOUS_CODING UQCR10 MODERATE|MISSENSE|Atc/Gtc|I47V|62|UQCR10|protein_coding|CODING|ENST00000401406|exon_22_30163363_30163596 . 0/1:99:219,0,230 . . 22 30163526 rs76013375 A G NON_SYNONYMOUS_CODING UQCR10 MODERATE|MISSENSE|Atc/Gtc|I47V|63|UQCR10|protein_coding|CODING|ENST00000330029|exon_22_30163358_30163537 . 0/1:99:219,0,230 . . 22 30163526 rs76013375 A G NON_SYNONYMOUS_CODING UQCR10 MODERATE|MISSENSE|Atc/Gtc|I47V|82|UQCR10|protein_coding|CODING|ENST00000406782|exon_22_30163388_30163558 . 0/1:99:219,0,230 . . 22 30189642 rs61736786 C T NON_SYNONYMOUS_CODING ASCC2 MODERATE|MISSENSE|cGg/cAg|R495Q|681|ASCC2|protein_coding|CODING|ENST00000542393|exon_22_30189566_30189665 . 0/1:99:174,0,232 . . 22 30189642 rs61736786 C T NON_SYNONYMOUS_CODING ASCC2 MODERATE|MISSENSE|cGg/cAg|R571Q|757|ASCC2|protein_coding|CODING|ENST00000307790|exon_22_30189566_30189665 . 0/1:99:174,0,232 . . 22 30189642 rs61736786 C T NON_SYNONYMOUS_CODING ASCC2 MODERATE|MISSENSE|cGg/cAg|R571Q|757|ASCC2|protein_coding|CODING|ENST00000397771|exon_22_30189566_30189665 . 0/1:99:174,0,232 . . 22 30189642 rs61736786 C T NON_SYNONYMOUS_CODING ASCC2 MODERATE|MISSENSE|cGg/cAg|R62Q|86|ASCC2|protein_coding|CODING|ENST00000411532|exon_22_30189566_30189665 . 0/1:99:174,0,232 . . 22 30603118 rs112608336 G A NON_SYNONYMOUS_CODING HORMAD2 MODERATE|MISSENSE|Gag/Aag|E62K|73|HORMAD2|protein_coding|CODING|ENST00000491590|exon_22_30602974_30603177 . . 0/1:99:243,0,187 . 22 30603118 rs112608336 G A NON_SYNONYMOUS_CODING HORMAD2 MODERATE|MISSENSE|Gag/Aag|E83K|94|HORMAD2|protein_coding|CODING|ENST00000481990|exon_22_30602974_30603177 . . 0/1:99:243,0,187 . 22 30689667 rs150496732 G C NON_SYNONYMOUS_CODING RP1-130H16.18.1 MODERATE|MISSENSE|atC/atG|I215M|480|RP1-130H16.18.1|protein_coding|CODING|ENST00000434291|exon_22_30689640_30689794 0/1:99:226,0,128 . . . 22 30689667 rs150496732 G C NON_SYNONYMOUS_CODING TBC1D10A MODERATE|MISSENSE|atC/atG|I253M|420|TBC1D10A|protein_coding|CODING|ENST00000403362|exon_22_30689640_30689794 0/1:99:226,0,128 . . . 22 30689667 rs150496732 G C NON_SYNONYMOUS_CODING TBC1D10A MODERATE|MISSENSE|atC/atG|I341M|508|TBC1D10A|protein_coding|CODING|ENST00000215790|exon_22_30689640_30689794 0/1:99:226,0,128 . . . 22 30689667 rs150496732 G C NON_SYNONYMOUS_CODING TBC1D10A MODERATE|MISSENSE|atC/atG|I348M|515|TBC1D10A|protein_coding|CODING|ENST00000403477|exon_22_30689640_30689794 0/1:99:226,0,128 . . . 22 30762035 rs9606721 A G NON_SYNONYMOUS_CODING CCDC157 MODERATE|MISSENSE|Aca/Gca|T16A|195|CCDC157|protein_coding|CODING|ENST00000445005|exon_22_30761979_30762237 . . . 0/1:99:102,0,239 22 30762035 rs9606721 A G NON_SYNONYMOUS_CODING CCDC157 MODERATE|MISSENSE|Aca/Gca|T16A|200|CCDC157|protein_coding|CODING|ENST00000430839|exon_22_30761979_30762237 . . . 0/1:99:102,0,239 22 30762035 rs9606721 A G NON_SYNONYMOUS_CODING CCDC157 MODERATE|MISSENSE|Aca/Gca|T16A|752|CCDC157|protein_coding|CODING|ENST00000338306|exon_22_30761979_30762237 . . . 0/1:99:102,0,239 22 30762035 rs9606721 A G NON_SYNONYMOUS_CODING CCDC157 MODERATE|MISSENSE|Aca/Gca|T16A|752|CCDC157|protein_coding|CODING|ENST00000405659|exon_22_30761933_30762237 . . . 0/1:99:102,0,239 22 30762035 rs9606721 A G NON_SYNONYMOUS_CODING CCDC157 MODERATE|MISSENSE|Aca/Gca|T16A|83|CCDC157|protein_coding|CODING|ENST00000399824|exon_22_30761979_30763085 . . . 0/1:99:102,0,239 22 30864655 rs115278158 A G NON_SYNONYMOUS_CODING SEC14L3 MODERATE|MISSENSE|cTg/cCg|L11P|323|SEC14L3|protein_coding|CODING|ENST00000402286|exon_22_30864495_30864683 . 0/1:99:215,0,250 . . 22 30864655 rs115278158 A G NON_SYNONYMOUS_CODING SEC14L3 MODERATE|MISSENSE|cTg/cCg|L11P|323|SEC14L3|protein_coding|CODING|ENST00000540910|exon_22_30864495_30864683 . 0/1:99:215,0,250 . . 22 30864655 rs115278158 A G NON_SYNONYMOUS_CODING SEC14L3 MODERATE|MISSENSE|cTg/cCg|L29P|341|SEC14L3|protein_coding|CODING|ENST00000401751|exon_22_30864495_30864683 . 0/1:99:215,0,250 . . 22 30864655 rs115278158 A G NON_SYNONYMOUS_CODING SEC14L3 MODERATE|MISSENSE|cTg/cCg|L29P|341|SEC14L3|protein_coding|CODING|ENST00000539629|exon_22_30864495_30864683 . 0/1:99:215,0,250 . . 22 30864655 rs115278158 A G NON_SYNONYMOUS_CODING SEC14L3 MODERATE|MISSENSE|cTg/cCg|L29P|353|SEC14L3|protein_coding|CODING|ENST00000403066|exon_22_30864495_30864683 . 0/1:99:215,0,250 . . 22 30864655 rs115278158 A G NON_SYNONYMOUS_CODING SEC14L3 MODERATE|MISSENSE|cTg/cCg|L29P|353|SEC14L3|protein_coding|CODING|ENST00000415957|exon_22_30864495_30864683 . 0/1:99:215,0,250 . . 22 30864655 rs115278158 A G NON_SYNONYMOUS_CODING SEC14L3 MODERATE|MISSENSE|cTg/cCg|L88P|400|SEC14L3|protein_coding|CODING|ENST00000215812|exon_22_30864495_30864683 . 0/1:99:215,0,250 . . 22 30866053 rs114438349 G A NON_SYNONYMOUS_CODING SEC14L3 MODERATE|MISSENSE|Cgg/Tgg|R4W|341|SEC14L3|protein_coding|CODING|ENST00000401751|exon_22_30866006_30866065 . 0/1:99:253,0,249 . . 22 30866053 rs114438349 G A NON_SYNONYMOUS_CODING SEC14L3 MODERATE|MISSENSE|Cgg/Tgg|R4W|341|SEC14L3|protein_coding|CODING|ENST00000539629|exon_22_30866006_30866065 . 0/1:99:253,0,249 . . 22 30866053 rs114438349 G A NON_SYNONYMOUS_CODING SEC14L3 MODERATE|MISSENSE|Cgg/Tgg|R4W|353|SEC14L3|protein_coding|CODING|ENST00000403066|exon_22_30866006_30866065 . 0/1:99:253,0,249 . . 22 30866053 rs114438349 G A NON_SYNONYMOUS_CODING SEC14L3 MODERATE|MISSENSE|Cgg/Tgg|R4W|353|SEC14L3|protein_coding|CODING|ENST00000415957|exon_22_30866006_30866065 . 0/1:99:253,0,249 . . 22 30866053 rs114438349 G A NON_SYNONYMOUS_CODING SEC14L3 MODERATE|MISSENSE|Cgg/Tgg|R63W|400|SEC14L3|protein_coding|CODING|ENST00000215812|exon_22_30866006_30866065 . 0/1:99:253,0,249 . . 22 30888492 rs61744139 C G NON_SYNONYMOUS_CODING SEC14L4 MODERATE|MISSENSE|gaG/gaC|E157D|360|SEC14L4|protein_coding|CODING|ENST00000392772|exon_22_30888461_30888544 . 0/1:99:170,0,255 . . 22 30888492 rs61744139 C G NON_SYNONYMOUS_CODING SEC14L4 MODERATE|MISSENSE|gaG/gaC|E196D|391|SEC14L4|protein_coding|CODING|ENST00000540456|exon_22_30888461_30888544 . 0/1:99:170,0,255 . . 22 30888492 rs61744139 C G NON_SYNONYMOUS_CODING SEC14L4 MODERATE|MISSENSE|gaG/gaC|E211D|360|SEC14L4|protein_coding|CODING|ENST00000381982|exon_22_30888461_30888544 . 0/1:99:170,0,255 . . 22 30888492 rs61744139 C G NON_SYNONYMOUS_CODING SEC14L4 MODERATE|MISSENSE|gaG/gaC|E211D|406|SEC14L4|protein_coding|CODING|ENST00000255858|exon_22_30888461_30888544 . 0/1:99:170,0,255 . . 22 30888494 rs17738527 C T NON_SYNONYMOUS_CODING SEC14L4 MODERATE|MISSENSE|Gag/Aag|E157K|360|SEC14L4|protein_coding|CODING|ENST00000392772|exon_22_30888461_30888544 . . . 0/1:99:175,0,209 22 30888494 rs17738527 C T NON_SYNONYMOUS_CODING SEC14L4 MODERATE|MISSENSE|Gag/Aag|E196K|391|SEC14L4|protein_coding|CODING|ENST00000540456|exon_22_30888461_30888544 . . . 0/1:99:175,0,209 22 30888494 rs17738527 C T NON_SYNONYMOUS_CODING SEC14L4 MODERATE|MISSENSE|Gag/Aag|E211K|360|SEC14L4|protein_coding|CODING|ENST00000381982|exon_22_30888461_30888544 . . . 0/1:99:175,0,209 22 30888494 rs17738527 C T NON_SYNONYMOUS_CODING SEC14L4 MODERATE|MISSENSE|Gag/Aag|E211K|406|SEC14L4|protein_coding|CODING|ENST00000255858|exon_22_30888461_30888544 . . . 0/1:99:175,0,209 22 30888527 rs17738540 C T NON_SYNONYMOUS_CODING SEC14L4 MODERATE|MISSENSE|Gtg/Atg|V146M|360|SEC14L4|protein_coding|CODING|ENST00000392772|exon_22_30888461_30888544 . . . 0/1:99:209,0,195 22 30888527 rs17738540 C T NON_SYNONYMOUS_CODING SEC14L4 MODERATE|MISSENSE|Gtg/Atg|V185M|391|SEC14L4|protein_coding|CODING|ENST00000540456|exon_22_30888461_30888544 . . . 0/1:99:209,0,195 22 30888527 rs17738540 C T NON_SYNONYMOUS_CODING SEC14L4 MODERATE|MISSENSE|Gtg/Atg|V200M|360|SEC14L4|protein_coding|CODING|ENST00000381982|exon_22_30888461_30888544 . . . 0/1:99:209,0,195 22 30888527 rs17738540 C T NON_SYNONYMOUS_CODING SEC14L4 MODERATE|MISSENSE|Gtg/Atg|V200M|406|SEC14L4|protein_coding|CODING|ENST00000255858|exon_22_30888461_30888544 . . . 0/1:99:209,0,195 22 30891294 rs9606739 G C NON_SYNONYMOUS_CODING SEC14L4 MODERATE|MISSENSE|Cgc/Ggc|R109G|391|SEC14L4|protein_coding|CODING|ENST00000540456|exon_22_30891241_30891429 . . . 0/1:99:255,0,226 22 30891294 rs9606739 G C NON_SYNONYMOUS_CODING SEC14L4 MODERATE|MISSENSE|Cgc/Ggc|R124G|360|SEC14L4|protein_coding|CODING|ENST00000381982|exon_22_30891241_30891429 . . . 0/1:99:255,0,226 22 30891294 rs9606739 G C NON_SYNONYMOUS_CODING SEC14L4 MODERATE|MISSENSE|Cgc/Ggc|R124G|406|SEC14L4|protein_coding|CODING|ENST00000255858|exon_22_30891241_30891429 . . . 0/1:99:255,0,226 22 30891294 rs9606739 G C NON_SYNONYMOUS_CODING SEC14L4 MODERATE|MISSENSE|Cgc/Ggc|R70G|360|SEC14L4|protein_coding|CODING|ENST00000392772|exon_22_30891241_30891429 . . . 0/1:99:255,0,226 22 30901592 rs9608956 T C NON_SYNONYMOUS_CODING SEC14L4 MODERATE|MISSENSE|Agc/Ggc|S3G|360|SEC14L4|protein_coding|CODING|ENST00000381982|exon_22_30901545_30901637 . 0/1:99:209,0,168 . 0/1:99:146,0,140 22 30901592 rs9608956 T C NON_SYNONYMOUS_CODING SEC14L4 MODERATE|MISSENSE|Agc/Ggc|S3G|406|SEC14L4|protein_coding|CODING|ENST00000255858|exon_22_30901545_30901682 . 0/1:99:209,0,168 . 0/1:99:146,0,140 22 30927957 rs61742115 G C NON_SYNONYMOUS_CODING SEC14L6 MODERATE|MISSENSE|gCt/gGt|A151G|397|SEC14L6|protein_coding|CODING|ENST00000402034|exon_22_30927890_30927985 . 0/1:99:209,0,159 . . 22 30934885 rs118116676 C T NON_SYNONYMOUS_CODING SEC14L6 MODERATE|MISSENSE|cGg/cAg|R20Q|397|SEC14L6|protein_coding|CODING|ENST00000402034|exon_22_30934814_30934889 . 0/1:99:138,0,217 . . 22 30953280 rs55674628 C T NON_SYNONYMOUS_CODING GAL3ST1 MODERATE|MISSENSE|Gtg/Atg|V34M|101|GAL3ST1|protein_coding|CODING|ENST00000428682|exon_22_30953249_30953388 . 0/1:99:249,0,183 . . 22 30953280 rs55674628 C T NON_SYNONYMOUS_CODING GAL3ST1 MODERATE|MISSENSE|Gtg/Atg|V34M|111|GAL3ST1|protein_coding|CODING|ENST00000423371|exon_22_30953249_30953388 . 0/1:99:249,0,183 . . 22 30953280 rs55674628 C T NON_SYNONYMOUS_CODING GAL3ST1 MODERATE|MISSENSE|Gtg/Atg|V34M|142|GAL3ST1|protein_coding|CODING|ENST00000443136|exon_22_30953249_30953388 . 0/1:99:249,0,183 . . 22 30953280 rs55674628 C T NON_SYNONYMOUS_CODING GAL3ST1 MODERATE|MISSENSE|Gtg/Atg|V34M|148|GAL3ST1|protein_coding|CODING|ENST00000423299|exon_22_30953249_30953388 . 0/1:99:249,0,183 . . 22 30953280 rs55674628 C T NON_SYNONYMOUS_CODING GAL3ST1 MODERATE|MISSENSE|Gtg/Atg|V34M|162|GAL3ST1|protein_coding|CODING|ENST00000427899|exon_22_30953249_30953388 . 0/1:99:249,0,183 . . 22 30953280 rs55674628 C T NON_SYNONYMOUS_CODING GAL3ST1 MODERATE|MISSENSE|Gtg/Atg|V34M|169|GAL3ST1|protein_coding|CODING|ENST00000416358|exon_22_30953249_30953388 . 0/1:99:249,0,183 . . 22 30953280 rs55674628 C T NON_SYNONYMOUS_CODING GAL3ST1 MODERATE|MISSENSE|Gtg/Atg|V34M|198|GAL3ST1|protein_coding|CODING|ENST00000437282|exon_22_30953249_30953388 . 0/1:99:249,0,183 . . 22 30953280 rs55674628 C T NON_SYNONYMOUS_CODING GAL3ST1 MODERATE|MISSENSE|Gtg/Atg|V34M|241|GAL3ST1|protein_coding|CODING|ENST00000452827|exon_22_30953249_30953388 . 0/1:99:249,0,183 . . 22 30953280 rs55674628 C T NON_SYNONYMOUS_CODING GAL3ST1 MODERATE|MISSENSE|Gtg/Atg|V34M|264|GAL3ST1|protein_coding|CODING|ENST00000431313|exon_22_30953249_30953388 . 0/1:99:249,0,183 . . 22 30953280 rs55674628 C T NON_SYNONYMOUS_CODING GAL3ST1 MODERATE|MISSENSE|Gtg/Atg|V34M|278|GAL3ST1|protein_coding|CODING|ENST00000441967|exon_22_30953249_30953388 . 0/1:99:249,0,183 . . 22 30953280 rs55674628 C T NON_SYNONYMOUS_CODING GAL3ST1 MODERATE|MISSENSE|Gtg/Atg|V34M|423|GAL3ST1|protein_coding|CODING|ENST00000338911|exon_22_30953249_30953388 . 0/1:99:249,0,183 . . 22 30953280 rs55674628 C T NON_SYNONYMOUS_CODING GAL3ST1 MODERATE|MISSENSE|Gtg/Atg|V34M|423|GAL3ST1|protein_coding|CODING|ENST00000401975|exon_22_30953249_30953388 . 0/1:99:249,0,183 . . 22 30953280 rs55674628 C T NON_SYNONYMOUS_CODING GAL3ST1 MODERATE|MISSENSE|Gtg/Atg|V34M|423|GAL3ST1|protein_coding|CODING|ENST00000402321|exon_22_30953249_30953388 . 0/1:99:249,0,183 . . 22 30953280 rs55674628 C T NON_SYNONYMOUS_CODING GAL3ST1 MODERATE|MISSENSE|Gtg/Atg|V34M|423|GAL3ST1|protein_coding|CODING|ENST00000402369|exon_22_30953249_30953388 . 0/1:99:249,0,183 . . 22 30953280 rs55674628 C T NON_SYNONYMOUS_CODING GAL3ST1 MODERATE|MISSENSE|Gtg/Atg|V34M|423|GAL3ST1|protein_coding|CODING|ENST00000406361|exon_22_30953249_30953388 . 0/1:99:249,0,183 . . 22 30953280 rs55674628 C T NON_SYNONYMOUS_CODING GAL3ST1 MODERATE|MISSENSE|Gtg/Atg|V34M|423|GAL3ST1|protein_coding|CODING|ENST00000406955|exon_22_30953249_30953388 . 0/1:99:249,0,183 . . 22 30953280 rs55674628 C T NON_SYNONYMOUS_CODING GAL3ST1 MODERATE|MISSENSE|Gtg/Atg|V34M|423|GAL3ST1|protein_coding|CODING|ENST00000443111|exon_22_30953249_30953388 . 0/1:99:249,0,183 . . 22 30953280 rs55674628 C T NON_SYNONYMOUS_CODING GAL3ST1 MODERATE|MISSENSE|Gtg/Atg|V34M|70|GAL3ST1|protein_coding|CODING|ENST00000448604|exon_22_30953249_30953388 . 0/1:99:249,0,183 . . 22 30953280 rs55674628 C T NON_SYNONYMOUS_CODING GAL3ST1 MODERATE|MISSENSE|Gtg/Atg|V34M|74|GAL3ST1|protein_coding|CODING|ENST00000445645|exon_22_30953249_30953388 . 0/1:99:249,0,183 . . 22 30953280 rs55674628 C T NON_SYNONYMOUS_CODING GAL3ST1 MODERATE|MISSENSE|Gtg/Atg|V34M|84|GAL3ST1|protein_coding|CODING|ENST00000411821|exon_22_30953249_30953388 . 0/1:99:249,0,183 . . 22 30953280 rs55674628 C T NON_SYNONYMOUS_CODING GAL3ST1 MODERATE|MISSENSE|Gtg/Atg|V34M|94|GAL3ST1|protein_coding|CODING|ENST00000447224|exon_22_30953249_30953388 . 0/1:99:249,0,183 . . 22 30953280 rs55674628 C T NON_SYNONYMOUS_CODING GAL3ST1 MODERATE|MISSENSE|Gtg/Atg|V34M|97|GAL3ST1|protein_coding|CODING|ENST00000426220|exon_22_30953249_30953388 . 0/1:99:249,0,183 . . 22 30953280 rs55674628 C T NON_SYNONYMOUS_CODING GAL3ST1 MODERATE|MISSENSE|Gtg/Atg|V34M|99|GAL3ST1|protein_coding|CODING|ENST00000453479|exon_22_30953249_30953717 . 0/1:99:249,0,183 . . 22 30977353 rs42942 T A NON_SYNONYMOUS_CODING PES1 MODERATE|MISSENSE|Acc/Tcc|T125S|449|PES1|protein_coding|CODING|ENST00000402281|exon_22_30977321_30977395 . . 0/1:99:140,0,231 . 22 30977353 rs42942 T A NON_SYNONYMOUS_CODING PES1 MODERATE|MISSENSE|Acc/Tcc|T125S|449|PES1|protein_coding|CODING|ENST00000405677|exon_22_30977321_30977395 . . 0/1:99:140,0,231 . 22 30977353 rs42942 T A NON_SYNONYMOUS_CODING PES1 MODERATE|MISSENSE|Acc/Tcc|T247S|571|PES1|protein_coding|CODING|ENST00000402284|exon_22_30977321_30977395 . . 0/1:99:140,0,231 . 22 30977353 rs42942 T A NON_SYNONYMOUS_CODING PES1 MODERATE|MISSENSE|Acc/Tcc|T264S|583|PES1|protein_coding|CODING|ENST00000335214|exon_22_30977321_30977395 . . 0/1:99:140,0,231 . 22 30977353 rs42942 T A NON_SYNONYMOUS_CODING PES1 MODERATE|MISSENSE|Acc/Tcc|T264S|588|PES1|protein_coding|CODING|ENST00000354694|exon_22_30977321_30977395 . . 0/1:99:140,0,231 . 22 31006860 rs9606756 A G NON_SYNONYMOUS_CODING TCN2 MODERATE|MISSENSE|Ata/Gta|I23V|101|TCN2|protein_coding|CODING|ENST00000423350|exon_22_31006858_31007101 0/1:99:226,0,255 0/1:99:233,0,255 . . 22 31006860 rs9606756 A G NON_SYNONYMOUS_CODING TCN2 MODERATE|MISSENSE|Ata/Gta|I23V|400|TCN2|protein_coding|CODING|ENST00000407817|exon_22_31006858_31007050 0/1:99:226,0,255 0/1:99:233,0,255 . . 22 31006860 rs9606756 A G NON_SYNONYMOUS_CODING TCN2 MODERATE|MISSENSE|Ata/Gta|I23V|423|TCN2|protein_coding|CODING|ENST00000405742|exon_22_31006858_31007050 0/1:99:226,0,255 0/1:99:233,0,255 . . 22 31006860 rs9606756 A G NON_SYNONYMOUS_CODING TCN2 MODERATE|MISSENSE|Ata/Gta|I23V|427|TCN2|protein_coding|CODING|ENST00000215838|exon_22_31006858_31007050 0/1:99:226,0,255 0/1:99:233,0,255 . . 22 31007023 rs75680863 A T NON_SYNONYMOUS_CODING TCN2 MODERATE|MISSENSE|aAg/aTg|K77M|101|TCN2|protein_coding|CODING|ENST00000423350|exon_22_31006858_31007101 0/1:99:255,0,237 . . . 22 31007023 rs75680863 A T NON_SYNONYMOUS_CODING TCN2 MODERATE|MISSENSE|aAg/aTg|K77M|400|TCN2|protein_coding|CODING|ENST00000407817|exon_22_31006858_31007050 0/1:99:255,0,237 . . . 22 31007023 rs75680863 A T NON_SYNONYMOUS_CODING TCN2 MODERATE|MISSENSE|aAg/aTg|K77M|423|TCN2|protein_coding|CODING|ENST00000405742|exon_22_31006858_31007050 0/1:99:255,0,237 . . . 22 31007023 rs75680863 A T NON_SYNONYMOUS_CODING TCN2 MODERATE|MISSENSE|aAg/aTg|K77M|427|TCN2|protein_coding|CODING|ENST00000215838|exon_22_31006858_31007050 0/1:99:255,0,237 . . . 22 31013419 rs9621049 C T NON_SYNONYMOUS_CODING TCN2 MODERATE|MISSENSE|tCt/tTt|S321F|400|TCN2|protein_coding|CODING|ENST00000407817|exon_22_31013317_31013482 0/1:99:208,0,153 . . . 22 31013419 rs9621049 C T NON_SYNONYMOUS_CODING TCN2 MODERATE|MISSENSE|tCt/tTt|S344F|423|TCN2|protein_coding|CODING|ENST00000405742|exon_22_31013317_31013482 0/1:99:208,0,153 . . . 22 31013419 rs9621049 C T NON_SYNONYMOUS_CODING TCN2 MODERATE|MISSENSE|tCt/tTt|S348F|427|TCN2|protein_coding|CODING|ENST00000215838|exon_22_31013317_31013482 0/1:99:208,0,153 . . . 22 31061521 rs117531294 A G NON_SYNONYMOUS_CODING SLC35E4 MODERATE|MISSENSE|Agg/Ggg|R197G|203|SLC35E4|protein_coding|CODING|ENST00000451479|exon_22_31061480_31061546 0/1:99:215,0,255 . . . 22 31284281 rs142260765 G T NON_SYNONYMOUS_CODING OSBP2 MODERATE|MISSENSE|Gac/Tac|D200Y|659|OSBP2|protein_coding|CODING|ENST00000437268|exon_22_31284210_31284327 . . . 0/1:99:241,0,134 22 31284281 rs142260765 G T NON_SYNONYMOUS_CODING OSBP2 MODERATE|MISSENSE|Gac/Tac|D285Y|743|OSBP2|protein_coding|CODING|ENST00000407373|exon_22_31284210_31284327 . . . 0/1:99:241,0,134 22 31284281 rs142260765 G T NON_SYNONYMOUS_CODING OSBP2 MODERATE|MISSENSE|Gac/Tac|D293Y|750|OSBP2|protein_coding|CODING|ENST00000403222|exon_22_31284210_31284327 . . . 0/1:99:241,0,134 22 31284281 rs142260765 G T NON_SYNONYMOUS_CODING OSBP2 MODERATE|MISSENSE|Gac/Tac|D3Y|460|OSBP2|protein_coding|CODING|ENST00000535268|exon_22_31284210_31284327 . . . 0/1:99:241,0,134 22 31284281 rs142260765 G T NON_SYNONYMOUS_CODING OSBP2 MODERATE|MISSENSE|Gac/Tac|D458Y|874|OSBP2|protein_coding|CODING|ENST00000382310|exon_22_31284210_31284327 . . . 0/1:99:241,0,134 22 31284281 rs142260765 G T NON_SYNONYMOUS_CODING OSBP2 MODERATE|MISSENSE|Gac/Tac|D458Y|915|OSBP2|protein_coding|CODING|ENST00000446658|exon_22_31284210_31284327 . . . 0/1:99:241,0,134 22 31284281 rs142260765 G T NON_SYNONYMOUS_CODING OSBP2 MODERATE|MISSENSE|Gac/Tac|D458Y|916|OSBP2|protein_coding|CODING|ENST00000332585|exon_22_31284210_31284327 . . . 0/1:99:241,0,134 22 31284281 rs142260765 G T NON_SYNONYMOUS_CODING OSBP2 MODERATE|MISSENSE|Gac/Tac|D89Y|450|OSBP2|protein_coding|CODING|ENST00000452656|exon_22_31284210_31284327 . . . 0/1:99:241,0,134 22 31284281 rs142260765 G T NON_SYNONYMOUS_CODING OSBP2 MODERATE|MISSENSE|Gac/Tac|D92Y|173|OSBP2|protein_coding|CODING|ENST00000424224|exon_22_31284210_31284327 . . . 0/1:99:241,0,134 22 31284281 rs142260765 G T NON_SYNONYMOUS_CODING OSBP2 MODERATE|MISSENSE|Gac/Tac|D92Y|549|OSBP2|protein_coding|CODING|ENST00000401475|exon_22_31284210_31284327 . . . 0/1:99:241,0,134 22 31331293 rs137983239 C T NON_SYNONYMOUS_CODING MORC2 MODERATE|MISSENSE|cGc/cAc|R523H|970|MORC2|protein_coding|CODING|ENST00000215862|exon_22_31331235_31331309 . . . 0/1:99:184,0,233 22 31331293 rs137983239 C T NON_SYNONYMOUS_CODING MORC2 MODERATE|MISSENSE|cGc/cAc|R585H|1032|MORC2|protein_coding|CODING|ENST00000397641|exon_22_31331235_31331309 . . . 0/1:99:184,0,233 22 31487354 rs114164619 G A NON_SYNONYMOUS_CODING SMTN MODERATE|MISSENSE|Ggc/Agc|G441S|938|SMTN|protein_coding|CODING|ENST00000404496|exon_22_31486947_31487468 . 0/1:99:231,0,182 . . 22 31487354 rs114164619 G A NON_SYNONYMOUS_CODING SMTN MODERATE|MISSENSE|Ggc/Agc|G447S|913|SMTN|protein_coding|CODING|ENST00000329852|exon_22_31487171_31487468 . 0/1:99:231,0,182 . . 22 31487354 rs114164619 G A NON_SYNONYMOUS_CODING SMTN MODERATE|MISSENSE|Ggc/Agc|G449S|915|SMTN|protein_coding|CODING|ENST00000333137|exon_22_31486947_31487468 . 0/1:99:231,0,182 . . 22 31487354 rs114164619 G A NON_SYNONYMOUS_CODING SMTN MODERATE|MISSENSE|Ggc/Agc|G449S|917|SMTN|protein_coding|CODING|ENST00000347557|exon_22_31486947_31487468 . 0/1:99:231,0,182 . . 22 31487354 rs114164619 G A NON_SYNONYMOUS_CODING SMTN MODERATE|MISSENSE|Ggc/Agc|G449S|940|SMTN|protein_coding|CODING|ENST00000358743|exon_22_31486947_31487468 . 0/1:99:231,0,182 . . 22 31489575 rs62236130 G A NON_SYNONYMOUS_CODING SMTN MODERATE|MISSENSE|Gtg/Atg|V48M|438|SMTN|protein_coding|CODING|ENST00000404574|exon_22_31489344_31489862 0/1:99:250,0,149 . . . 22 31534280 rs2232177 G A NON_SYNONYMOUS_CODING PLA2G3 MODERATE|MISSENSE|gCg/gTg|A255V|509|PLA2G3|protein_coding|CODING|ENST00000215885|exon_22_31534262_31534396 . 0/1:99:200,0,239 . . 22 31673116 rs3747154 A G NON_SYNONYMOUS_CODING LIMK2 MODERATE|MISSENSE|cAg/cGg|Q627R|629|LIMK2|protein_coding|CODING|ENST00000406516|exon_22_31672775_31673624 0/1:99:160,0,174 . . . 22 31673116 rs3747154 A G NON_SYNONYMOUS_CODING LIMK2 MODERATE|MISSENSE|cAg/cGg|Q684R|686|LIMK2|protein_coding|CODING|ENST00000340552|exon_22_31672775_31673624 0/1:99:160,0,174 . . . 22 31685256 rs2073861 C G NON_SYNONYMOUS_CODING PIK3IP1 MODERATE|MISSENSE|aGg/aCg|R211T|234|PIK3IP1|protein_coding|CODING|ENST00000402249|exon_22_31685024_31685379 0/1:99:255,0,255 . . . 22 31722886 rs2240424 T G NON_SYNONYMOUS_CODING PATZ1 MODERATE|MISSENSE|gaA/gaC|E639D|641|PATZ1|protein_coding|CODING|ENST00000351933|exon_22_31721795_31723295 0/1:99:97,0,255 . . . 22 31722886 rs2240424 T G NON_SYNONYMOUS_CODING PATZ1 MODERATE|MISSENSE|gaA/gaC|E685D|687|PATZ1|protein_coding|CODING|ENST00000266269|exon_22_31721790_31723295 0/1:99:97,0,255 . . . 22 31979911 rs140987552 G T NON_SYNONYMOUS_CODING SFI1 MODERATE|MISSENSE|aaG/aaT|K280N|1031|SFI1|protein_coding|CODING|ENST00000414585|exon_22_31979861_31979958 . . 0/1:99:255,0,200 . 22 31979911 rs140987552 G T NON_SYNONYMOUS_CODING SFI1 MODERATE|MISSENSE|aaG/aaT|K280N|1089|SFI1|protein_coding|CODING|ENST00000443011|exon_22_31979861_31979958 . . 0/1:99:255,0,200 . 22 31979911 rs140987552 G T NON_SYNONYMOUS_CODING SFI1 MODERATE|MISSENSE|aaG/aaT|K351N|1160|SFI1|protein_coding|CODING|ENST00000400289|exon_22_31979861_31979958 . . 0/1:99:255,0,200 . 22 31979911 rs140987552 G T NON_SYNONYMOUS_CODING SFI1 MODERATE|MISSENSE|aaG/aaT|K351N|1160|SFI1|protein_coding|CODING|ENST00000443326|exon_22_31979861_31979958 . . 0/1:99:255,0,200 . 22 31979911 rs140987552 G T NON_SYNONYMOUS_CODING SFI1 MODERATE|MISSENSE|aaG/aaT|K378N|1187|SFI1|protein_coding|CODING|ENST00000540643|exon_22_31979861_31979958 . . 0/1:99:255,0,200 . 22 31979911 rs140987552 G T NON_SYNONYMOUS_CODING SFI1 MODERATE|MISSENSE|aaG/aaT|K402N|1211|SFI1|protein_coding|CODING|ENST00000432498|exon_22_31979861_31979958 . . 0/1:99:255,0,200 . 22 31979911 rs140987552 G T NON_SYNONYMOUS_CODING SFI1 MODERATE|MISSENSE|aaG/aaT|K409N|991|SFI1|protein_coding|CODING|ENST00000421060|exon_22_31979861_31979958 . . 0/1:99:255,0,200 . 22 31979911 rs140987552 G T NON_SYNONYMOUS_CODING SFI1 MODERATE|MISSENSE|aaG/aaT|K433N|1242|SFI1|protein_coding|CODING|ENST00000400288|exon_22_31979861_31979958 . . 0/1:99:255,0,200 . 22 31979911 rs140987552 G T NON_SYNONYMOUS_CODING SFI1 MODERATE|MISSENSE|aaG/aaT|K48N|604|SFI1|protein_coding|CODING|ENST00000417682|exon_22_31979861_31979958 . . 0/1:99:255,0,200 . 22 32200849 rs41311139 C T NON_SYNONYMOUS_CODING DEPDC5 MODERATE|MISSENSE|Cgt/Tgt|R361C|664|DEPDC5|protein_coding|CODING|ENST00000536766|exon_22_32200828_32200901 . . 0/1:99:255,0,237 . 22 32200849 rs41311139 C T NON_SYNONYMOUS_CODING DEPDC5 MODERATE|MISSENSE|Cgt/Tgt|R389C|1229|DEPDC5|protein_coding|CODING|ENST00000382105|exon_22_32200828_32200901 . . 0/1:99:255,0,237 . 22 32200849 rs41311139 C T NON_SYNONYMOUS_CODING DEPDC5 MODERATE|MISSENSE|Cgt/Tgt|R389C|1503|DEPDC5|protein_coding|CODING|ENST00000382109|exon_22_32200828_32200901 . . 0/1:99:255,0,237 . 22 32200849 rs41311139 C T NON_SYNONYMOUS_CODING DEPDC5 MODERATE|MISSENSE|Cgt/Tgt|R389C|1503|DEPDC5|protein_coding|CODING|ENST00000535622|exon_22_32200828_32200901 . . 0/1:99:255,0,237 . 22 32200849 rs41311139 C T NON_SYNONYMOUS_CODING DEPDC5 MODERATE|MISSENSE|Cgt/Tgt|R389C|1552|DEPDC5|protein_coding|CODING|ENST00000382111|exon_22_32200828_32200901 . . 0/1:99:255,0,237 . 22 32200849 rs41311139 C T NON_SYNONYMOUS_CODING DEPDC5 MODERATE|MISSENSE|Cgt/Tgt|R389C|1552|DEPDC5|protein_coding|CODING|ENST00000400246|exon_22_32200828_32200901 . . 0/1:99:255,0,237 . 22 32200849 rs41311139 C T NON_SYNONYMOUS_CODING DEPDC5 MODERATE|MISSENSE|Cgt/Tgt|R389C|1572|DEPDC5|protein_coding|CODING|ENST00000400248|exon_22_32200828_32200901 . . 0/1:99:255,0,237 . 22 32200849 rs41311139 C T NON_SYNONYMOUS_CODING DEPDC5 MODERATE|MISSENSE|Cgt/Tgt|R389C|1572|DEPDC5|protein_coding|CODING|ENST00000400249|exon_22_32200828_32200901 . . 0/1:99:255,0,237 . 22 32200849 rs41311139 C T NON_SYNONYMOUS_CODING DEPDC5 MODERATE|MISSENSE|Cgt/Tgt|R389C|1581|DEPDC5|protein_coding|CODING|ENST00000266091|exon_22_32200828_32200901 . . 0/1:99:255,0,237 . 22 32200849 rs41311139 C T NON_SYNONYMOUS_CODING DEPDC5 MODERATE|MISSENSE|Cgt/Tgt|R389C|1594|DEPDC5|protein_coding|CODING|ENST00000382112|exon_22_32200828_32200901 . . 0/1:99:255,0,237 . 22 32200849 rs41311139 C T NON_SYNONYMOUS_CODING DEPDC5 MODERATE|MISSENSE|Cgt/Tgt|R389C|559|DEPDC5|protein_coding|CODING|ENST00000400242|exon_22_32200828_32200901 . . 0/1:99:255,0,237 . 22 32445946 rs17683011 A G NON_SYNONYMOUS_CODING SLC5A1 MODERATE|MISSENSE|aAt/aGt|N51S|664|SLC5A1|protein_coding|CODING|ENST00000266088|exon_22_32445930_32446001 0/1:99:255,0,226 . 0/1:99:189,0,217 . 22 32487700 rs17683430 G A NON_SYNONYMOUS_CODING SLC5A1 MODERATE|MISSENSE|Gcc/Acc|A284T|537|SLC5A1|protein_coding|CODING|ENST00000543737|exon_22_32487599_32487749 0/1:99:224,0,206 . 0/1:99:162,0,198 . 22 32487700 rs17683430 G A NON_SYNONYMOUS_CODING SLC5A1 MODERATE|MISSENSE|Gcc/Acc|A411T|664|SLC5A1|protein_coding|CODING|ENST00000266088|exon_22_32487599_32487749 0/1:99:224,0,206 . 0/1:99:162,0,198 . 22 32506050 rs33954001 C G NON_SYNONYMOUS_CODING SLC5A1 MODERATE|MISSENSE|caC/caG|H488Q|537|SLC5A1|protein_coding|CODING|ENST00000543737|exon_22_32505977_32506346 0/1:99:255,0,228 . 0/1:99:255,0,255 . 22 32506050 rs33954001 C G NON_SYNONYMOUS_CODING SLC5A1 MODERATE|MISSENSE|caC/caG|H615Q|664|SLC5A1|protein_coding|CODING|ENST00000266088|exon_22_32505977_32509016 0/1:99:255,0,228 . 0/1:99:255,0,255 . 22 32550293 rs142906642 C T NON_SYNONYMOUS_CODING C22orf42 MODERATE|MISSENSE|cGc/cAc|R82H|251|C22orf42|protein_coding|CODING|ENST00000382097|exon_22_32550231_32550305 . . . 0/1:99:166,0,236 22 32589090 rs8135276 C T NON_SYNONYMOUS_CODING RFPL2 MODERATE|MISSENSE|Gcc/Acc|A119T|378|RFPL2|protein_coding|CODING|ENST00000400237|exon_22_32588889_32589179 . . . 0/1:99:174,0,160 22 32589090 rs8135276 C T NON_SYNONYMOUS_CODING RFPL2 MODERATE|MISSENSE|Gcc/Acc|A29T|288|RFPL2|protein_coding|CODING|ENST00000248983|exon_22_32588889_32589179 . . . 0/1:99:174,0,160 22 32589090 rs8135276 C T NON_SYNONYMOUS_CODING RFPL2 MODERATE|MISSENSE|Gcc/Acc|A29T|288|RFPL2|protein_coding|CODING|ENST00000400236|exon_22_32588889_32589179 . . . 0/1:99:174,0,160 22 32589090 rs8135276 C T NON_SYNONYMOUS_CODING RFPL2 MODERATE|MISSENSE|Gcc/Acc|A58T|317|RFPL2|protein_coding|CODING|ENST00000248980|exon_22_32588889_32589466 . . . 0/1:99:174,0,160 22 32871365 rs9621461 G A NON_SYNONYMOUS_CODING FBXO7 MODERATE|MISSENSE|gGg/gAg|G6E|128|FBXO7|protein_coding|CODING|ENST00000452138|exon_22_32871224_32871385 . . 0/1:99:219,0,212 . 22 32871365 rs9621461 G A NON_SYNONYMOUS_CODING FBXO7 MODERATE|MISSENSE|gGg/gAg|G6E|443|FBXO7|protein_coding|CODING|ENST00000382058|exon_22_32871224_32871385 . . 0/1:99:219,0,212 . 22 32871383 rs8137714 T G NON_SYNONYMOUS_CODING FBXO7 MODERATE|MISSENSE|cTc/cGc|L12R|128|FBXO7|protein_coding|CODING|ENST00000452138|exon_22_32871224_32871385 . . 0/1:99:242,0,208 0/1:99:232,0,129 22 32871383 rs8137714 T G NON_SYNONYMOUS_CODING FBXO7 MODERATE|MISSENSE|cTc/cGc|L12R|443|FBXO7|protein_coding|CODING|ENST00000382058|exon_22_32871224_32871385 . . 0/1:99:242,0,208 0/1:99:232,0,129 22 35480406 . C T NON_SYNONYMOUS_CODING ISX MODERATE|MISSENSE|Cgg/Tgg|R138W|245|ISX|protein_coding|CODING|ENST00000308700|exon_22_35480376_35480492 0/1:99:147,0,255 . . . 22 35480406 . C T NON_SYNONYMOUS_CODING ISX MODERATE|MISSENSE|Cgg/Tgg|R138W|245|ISX|protein_coding|CODING|ENST00000404699|exon_22_35480376_35480492 0/1:99:147,0,255 . . . 22 35785929 rs145427664 C G NON_SYNONYMOUS_CODING HMOX1 MODERATE|MISSENSE|Cgc/Ggc|R237G|288|HMOX1|protein_coding|CODING|ENST00000216117|exon_22_35785857_35785956 . . 0/1:99:129,0,199 . 22 36537763 rs61741884 C T NON_SYNONYMOUS_CODING APOL3 MODERATE|MISSENSE|Gtg/Atg|V161M|331|APOL3|protein_coding|CODING|ENST00000397293|exon_22_36536372_36538106 . . . 1/1:99:255,84,0 22 36537763 rs61741884 C T NON_SYNONYMOUS_CODING APOL3 MODERATE|MISSENSE|Gtg/Atg|V232M|402|APOL3|protein_coding|CODING|ENST00000349314|exon_22_36536378_36538106 . . . 1/1:99:255,84,0 22 36537763 rs61741884 C T NON_SYNONYMOUS_CODING APOL3 MODERATE|MISSENSE|Gtg/Atg|V32M|202|APOL3|protein_coding|CODING|ENST00000361710|exon_22_36536378_36538106 . . . 1/1:99:255,84,0 22 36537763 rs61741884 C T NON_SYNONYMOUS_CODING APOL3 MODERATE|MISSENSE|Gtg/Atg|V32M|202|APOL3|protein_coding|CODING|ENST00000397287|exon_22_36536378_36538106 . . . 1/1:99:255,84,0 22 36537763 rs61741884 C T NON_SYNONYMOUS_CODING APOL3 MODERATE|MISSENSE|Gtg/Atg|V32M|202|APOL3|protein_coding|CODING|ENST00000424878|exon_22_36536372_36538106 . . . 1/1:99:255,84,0 22 36623920 rs7285167 G A NON_SYNONYMOUS_CODING APOL2 MODERATE|MISSENSE|Cgc/Tgc|R182C|337|APOL2|protein_coding|CODING|ENST00000249066|exon_22_36622256_36624326 . 0/1:99:215,0,255 . 0/1:99:213,0,203 22 36623920 rs7285167 G A NON_SYNONYMOUS_CODING APOL2 MODERATE|MISSENSE|Cgc/Tgc|R182C|337|APOL2|protein_coding|CODING|ENST00000358502|exon_22_36622256_36624326 . 0/1:99:215,0,255 . 0/1:99:213,0,203 22 36623920 rs7285167 G A NON_SYNONYMOUS_CODING APOL2 MODERATE|MISSENSE|Cgc/Tgc|R294C|449|APOL2|protein_coding|CODING|ENST00000451256|exon_22_36623388_36624326 . 0/1:99:215,0,255 . 0/1:99:213,0,203 22 37387257 rs9610624 T C NON_SYNONYMOUS_CODING C22orf33 MODERATE|MISSENSE|tAt/tGt|Y184C|195|C22orf33|protein_coding|CODING|ENST00000402860|exon_22_37387166_37387317 . . 0/1:99:229,0,255 . 22 37387257 rs9610624 T C NON_SYNONYMOUS_CODING C22orf33 MODERATE|MISSENSE|tAt/tGt|Y269C|280|C22orf33|protein_coding|CODING|ENST00000381821|exon_22_37387197_37387317 . . 0/1:99:229,0,255 . 22 37387257 rs9610624 T C NON_SYNONYMOUS_CODING C22orf33 MODERATE|MISSENSE|tAt/tGt|Y269C|280|C22orf33|protein_coding|CODING|ENST00000405091|exon_22_37387166_37387317 . . 0/1:99:229,0,255 . 22 37578388 rs17812681 C T NON_SYNONYMOUS_CODING C1QTNF6 MODERATE|MISSENSE|cGc/cAc|R102H|154|C1QTNF6|protein_coding|CODING|ENST00000255836|exon_22_37578130_37578622 . . 0/1:99:240,0,232 . 22 37578388 rs17812681 C T NON_SYNONYMOUS_CODING C1QTNF6 MODERATE|MISSENSE|cGc/cAc|R226H|278|C1QTNF6|protein_coding|CODING|ENST00000337843|exon_22_37576207_37578775 . . 0/1:99:240,0,232 . 22 37578388 rs17812681 C T NON_SYNONYMOUS_CODING C1QTNF6 MODERATE|MISSENSE|cGc/cAc|R226H|278|C1QTNF6|protein_coding|CODING|ENST00000397110|exon_22_37578192_37578775 . . 0/1:99:240,0,232 . 22 37578652 rs17812699 G A NON_SYNONYMOUS_CODING C1QTNF6 MODERATE|MISSENSE|cCg/cTg|P138L|278|C1QTNF6|protein_coding|CODING|ENST00000337843|exon_22_37576207_37578775 . 0/1:99:220,0,232 1/1:99:255,63,0 . 22 37578652 rs17812699 G A NON_SYNONYMOUS_CODING C1QTNF6 MODERATE|MISSENSE|cCg/cTg|P138L|278|C1QTNF6|protein_coding|CODING|ENST00000397110|exon_22_37578192_37578775 . 0/1:99:220,0,232 1/1:99:255,63,0 . 22 37581422 rs229526 G C NON_SYNONYMOUS_CODING C1QTNF6 MODERATE|MISSENSE|cCt/cGt|P42R|278|C1QTNF6|protein_coding|CODING|ENST00000337843|exon_22_37581258_37581495 . 0/1:99:193,0,222 . 0/1:99:255,0,176 22 37581422 rs229526 G C NON_SYNONYMOUS_CODING C1QTNF6 MODERATE|MISSENSE|cCt/cGt|P42R|278|C1QTNF6|protein_coding|CODING|ENST00000397110|exon_22_37581258_37581495 . 0/1:99:193,0,222 . 0/1:99:255,0,176 22 37603745 rs4988466 G A NON_SYNONYMOUS_CODING SSTR3 MODERATE|MISSENSE|gCg/gTg|A33V|418|SSTR3|protein_coding|CODING|ENST00000328544|exon_22_37600278_37603878 . 0/1:99:236,0,225 . . 22 37603745 rs4988466 G A NON_SYNONYMOUS_CODING SSTR3 MODERATE|MISSENSE|gCg/gTg|A33V|418|SSTR3|protein_coding|CODING|ENST00000402501|exon_22_37602520_37603878 . 0/1:99:236,0,225 . . 22 37964429 rs62235034 T C NON_SYNONYMOUS_CODING CDC42EP1 MODERATE|MISSENSE|Tca/Cca|S260P|391|CDC42EP1|protein_coding|CODING|ENST00000249014|exon_22_37964115_37965412 . . . 1/1:33:121,18,0 22 38046695 rs12170939 C A NON_SYNONYMOUS_CODING SH3BP1 MODERATE|MISSENSE|Ccg/Acg|P435T|516|SH3BP1|protein_coding|CODING|ENST00000397014|exon_22_38046549_38046732 . 0/1:98:95,0,244 . . 22 38046695 rs12170939 C A NON_SYNONYMOUS_CODING SH3BP1 MODERATE|MISSENSE|Ccg/Acg|P521T|701|SH3BP1|protein_coding|CODING|ENST00000357436|exon_22_38046549_38046732 . 0/1:98:95,0,244 . . 22 38119869 rs75659869 G A NON_SYNONYMOUS_CODING TRIOBP MODERATE|MISSENSE|Gac/Aac|D436N|1688|TRIOBP|protein_coding|CODING|ENST00000417174|exon_22_38119192_38122510 . 0/1:99:168,0,240 . . 22 38119869 rs75659869 G A NON_SYNONYMOUS_CODING TRIOBP MODERATE|MISSENSE|Gac/Aac|D436N|2365|TRIOBP|protein_coding|CODING|ENST00000406386|exon_22_38119192_38122510 . 0/1:99:168,0,240 . . 22 38382304 rs12170378 G A NON_SYNONYMOUS_CODING POLR2F MODERATE|MISSENSE|gGc/gAc|G146D|158|POLR2F|protein_coding|CODING|ENST00000407936|exon_22_38382161_38382319 0/1:99:123,0,135 . . . 22 38620843 . G A NON_SYNONYMOUS_CODING TMEM184B MODERATE|MISSENSE|Cgg/Tgg|R311W|407|TMEM184B|protein_coding|CODING|ENST00000361684|exon_22_38620792_38620986 0/1:99:128,0,255 . . . 22 38620843 . G A NON_SYNONYMOUS_CODING TMEM184B MODERATE|MISSENSE|Cgg/Tgg|R311W|407|TMEM184B|protein_coding|CODING|ENST00000361906|exon_22_38620792_38620986 0/1:99:128,0,255 . . . 22 39497404 rs139297 G C NON_SYNONYMOUS_CODING APOBEC3H MODERATE|MISSENSE|Ggc/Cgc|G105R|154|APOBEC3H|protein_coding|CODING|ENST00000421988|exon_22_39497242_39497509 . . 1/1:10:63,6,0 1/1:16:89,9,0 22 39497404 rs139297 G C NON_SYNONYMOUS_CODING APOBEC3H MODERATE|MISSENSE|Ggc/Cgc|G105R|182|APOBEC3H|protein_coding|CODING|ENST00000348946|exon_22_39497242_39497509 . . 1/1:10:63,6,0 1/1:16:89,9,0 22 39497404 rs139297 G C NON_SYNONYMOUS_CODING APOBEC3H MODERATE|MISSENSE|Ggc/Cgc|G105R|183|APOBEC3H|protein_coding|CODING|ENST00000442487|exon_22_39497242_39497509 . . 1/1:10:63,6,0 1/1:16:89,9,0 22 39497404 rs139297 G C NON_SYNONYMOUS_CODING APOBEC3H MODERATE|MISSENSE|Ggc/Cgc|G105R|200|APOBEC3H|protein_coding|CODING|ENST00000401756|exon_22_39497242_39497509 . . 1/1:10:63,6,0 1/1:16:89,9,0 22 39777824 . A AACC CODON_CHANGE_PLUS_CODON_INSERTION SYNGR1 MODERATE||act/aACCct|T203NP|233|SYNGR1|protein_coding|CODING|ENST00000328933|exon_22_39777701_39781593 . 0/1:5:255,0,2 . . 22 40043877 rs57732048 C A NON_SYNONYMOUS_CODING CACNA1I MODERATE|MISSENSE|Cat/Aat|H505N|2016|CACNA1I|protein_coding|CODING|ENST00000401624|exon_22_40043827_40043931 . 0/1:99:196,0,255 . . 22 40043877 rs57732048 C A NON_SYNONYMOUS_CODING CACNA1I MODERATE|MISSENSE|Cat/Aat|H505N|2223|CACNA1I|protein_coding|CODING|ENST00000402142|exon_22_40043827_40043931 . 0/1:99:196,0,255 . . 22 40043877 rs57732048 C A NON_SYNONYMOUS_CODING CACNA1I MODERATE|MISSENSE|Cat/Aat|H505N|2229|CACNA1I|protein_coding|CODING|ENST00000336649|exon_22_40043827_40043951 . 0/1:99:196,0,255 . . 22 40283427 rs17319801 A G NON_SYNONYMOUS_CODING ENTHD1 MODERATE|MISSENSE|aTa/aCa|I109T|607|ENTHD1|protein_coding|CODING|ENST00000325157|exon_22_40283404_40283907 . . 0/1:99:255,0,255 . 22 40417571 rs35823589 G A NON_SYNONYMOUS_CODING FAM83F MODERATE|MISSENSE|Ggc/Agc|G353S|500|FAM83F|protein_coding|CODING|ENST00000333407|exon_22_40417294_40417967 . . 0/1:99:199,0,214 . 22 40802496 . G T NON_SYNONYMOUS_CODING SGSM3 MODERATE|MISSENSE|Gat/Tat|D272Y|596|SGSM3|protein_coding|CODING|ENST00000454798|exon_22_40802442_40802666 0/1:99:236,0,219 . . . 22 40802496 . G T NON_SYNONYMOUS_CODING SGSM3 MODERATE|MISSENSE|Gat/Tat|D282Y|400|SGSM3|protein_coding|CODING|ENST00000545416|exon_22_40802442_40802855 0/1:99:236,0,219 . . . 22 40802496 . G T NON_SYNONYMOUS_CODING SGSM3 MODERATE|MISSENSE|Gat/Tat|D339Y|749|SGSM3|protein_coding|CODING|ENST00000248929|exon_22_40802442_40802666 0/1:99:236,0,219 . . . 22 41175202 rs45608735 C T NON_SYNONYMOUS_CODING SLC25A17 MODERATE|MISSENSE|Gta/Ata|V6I|225|SLC25A17|protein_coding|CODING|ENST00000402844|exon_22_41175013_41176198 . . 0/1:99:255,0,255 . 22 41303163 rs118098040 C T NON_SYNONYMOUS_CODING XPNPEP3 MODERATE|MISSENSE|Cgc/Tgc|R276C|288|XPNPEP3|protein_coding|CODING|ENST00000541156|exon_22_41303130_41303194 . . 0/1:99:255,0,255 0/1:99:248,0,219 22 41548008 rs20551 A G NON_SYNONYMOUS_CODING EP300 MODERATE|MISSENSE|Att/Gtt|I997V|2414|EP300|protein_coding|CODING|ENST00000263253|exon_22_41547837_41548016 0/1:99:206,0,255 . 0/1:99:229,0,255 . 22 42524175 . CCTTCT CCT CODON_DELETION CYP2D6 MODERATE||gagaag/gag|EK226E|443|CYP2D6|protein_coding|CODING|ENST00000413640|exon_22_42524176_42524352 . . . 0/1:99:109,0,255 22 42524175 . CCTTCT CCT CODON_DELETION CYP2D6 MODERATE||gagaag/gag|EK229E|446|CYP2D6|protein_coding|CODING|ENST00000359033|exon_22_42524176_42524352 . . . 0/1:99:109,0,255 22 42524175 . CCTTCT CCT CODON_DELETION CYP2D6 MODERATE||gagaag/gag|EK229E|446|CYP2D6|protein_coding|CODING|ENST00000542856|exon_22_42524176_42524352 . . . 0/1:99:109,0,255 22 42524175 . CCTTCT CCT CODON_DELETION CYP2D6 MODERATE||gagaag/gag|EK280E|497|CYP2D6|protein_coding|CODING|ENST00000360608|exon_22_42524176_42524352 . . . 0/1:99:109,0,255 22 42524175 . CCTTCT CCT CODON_DELETION CYP2D6 MODERATE||gagaag/gag|EK280E|497|CYP2D6|protein_coding|CODING|ENST00000389970|exon_22_42524176_42524352 . . . 0/1:99:109,0,255 22 42526721 . G A NON_SYNONYMOUS_CODING CYP2D6 MODERATE|MISSENSE|Cgg/Tgg|R25W|446|CYP2D6|protein_coding|CODING|ENST00000359033|exon_22_42526614_42526867 0/1:99:224,0,255 . . . 22 42526721 . G A NON_SYNONYMOUS_CODING CYP2D6 MODERATE|MISSENSE|Cgg/Tgg|R25W|446|CYP2D6|protein_coding|CODING|ENST00000542856|exon_22_42526614_42526736 0/1:99:224,0,255 . . . 22 42526721 . G A NON_SYNONYMOUS_CODING CYP2D6 MODERATE|MISSENSE|Cgg/Tgg|R25W|497|CYP2D6|protein_coding|CODING|ENST00000360608|exon_22_42526614_42526908 0/1:99:224,0,255 . . . 22 42526721 . G A NON_SYNONYMOUS_CODING CYP2D6 MODERATE|MISSENSE|Cgg/Tgg|R25W|497|CYP2D6|protein_coding|CODING|ENST00000389970|exon_22_42526614_42526883 0/1:99:224,0,255 . . . 22 42537280 rs28367005 T C NON_SYNONYMOUS_CODING CYP2D7P1 MODERATE|MISSENSE|cAc/cGc|H262R|407|CYP2D7P1|protein_coding|CODING|ENST00000436260|exon_22_42537162_42537349 . . 0/1:99:218,0,234 . 22 42537280 rs28367005 T C NON_SYNONYMOUS_CODING CYP2D7P1 MODERATE|MISSENSE|cAc/cGc|H298R|443|CYP2D7P1|protein_coding|CODING|ENST00000381321|exon_22_42537162_42537349 . . 0/1:99:218,0,234 . 22 42537280 rs28367005 T C NON_SYNONYMOUS_CODING CYP2D7P1 MODERATE|MISSENSE|cAc/cGc|H300R|445|CYP2D7P1|protein_coding|CODING|ENST00000354609|exon_22_42537162_42537349 . . 0/1:99:218,0,234 . 22 42537280 rs28367005 T C NON_SYNONYMOUS_CODING CYP2D7P1 MODERATE|MISSENSE|cAc/cGc|H351R|496|CYP2D7P1|protein_coding|CODING|ENST00000428297|exon_22_42537162_42537349 . . 0/1:99:218,0,234 . 22 42537280 rs28367005 T C NON_SYNONYMOUS_CODING CYP2D7P1 MODERATE|MISSENSE|cAc/cGc|H6R|151|CYP2D7P1|protein_coding|CODING|ENST00000435101|exon_22_42537162_42537349 . . 0/1:99:218,0,234 . 22 42610099 rs34030679 T C NON_SYNONYMOUS_CODING TCF20 MODERATE|MISSENSE|Atg/Gtg|M405V|1938|TCF20|protein_coding|CODING|ENST00000335626|exon_22_42605657_42611446 0/1:99:254,0,171 . . . 22 42610099 rs34030679 T C NON_SYNONYMOUS_CODING TCF20 MODERATE|MISSENSE|Atg/Gtg|M405V|1960|TCF20|protein_coding|CODING|ENST00000359486|exon_22_42605657_42611448 0/1:99:254,0,171 . . . 22 42611265 rs143525991 C G NON_SYNONYMOUS_CODING TCF20 MODERATE|MISSENSE|aGc/aCc|S16T|1938|TCF20|protein_coding|CODING|ENST00000335626|exon_22_42605657_42611446 . . 0/1:99:255,0,255 . 22 42611265 rs143525991 C G NON_SYNONYMOUS_CODING TCF20 MODERATE|MISSENSE|aGc/aCc|S16T|1960|TCF20|protein_coding|CODING|ENST00000359486|exon_22_42605657_42611448 . . 0/1:99:255,0,255 . 22 43218397 rs9607957 T C NON_SYNONYMOUS_CODING ARFGAP3 MODERATE|MISSENSE|Agt/Ggt|S159G|444|ARFGAP3|protein_coding|CODING|ENST00000429508|exon_22_43218276_43218415 . 0/1:99:247,0,255 . . 22 43218397 rs9607957 T C NON_SYNONYMOUS_CODING ARFGAP3 MODERATE|MISSENSE|Agt/Ggt|S187G|472|ARFGAP3|protein_coding|CODING|ENST00000437119|exon_22_43218276_43218415 . 0/1:99:247,0,255 . . 22 43218397 rs9607957 T C NON_SYNONYMOUS_CODING ARFGAP3 MODERATE|MISSENSE|Agt/Ggt|S231G|516|ARFGAP3|protein_coding|CODING|ENST00000263245|exon_22_43218276_43218415 . 0/1:99:247,0,255 . . 22 43272940 . C T NON_SYNONYMOUS_CODING PACSIN2 MODERATE|MISSENSE|Gac/Aac|D369N|486|PACSIN2|protein_coding|CODING|ENST00000263246|exon_22_43272894_43273016 0/1:99:198,0,228 . . . 22 43272940 . C T NON_SYNONYMOUS_CODING PACSIN2 MODERATE|MISSENSE|Gac/Aac|D369N|486|PACSIN2|protein_coding|CODING|ENST00000402229|exon_22_43272894_43273016 0/1:99:198,0,228 . . . 22 43272940 . C T NON_SYNONYMOUS_CODING PACSIN2 MODERATE|MISSENSE|Gac/Aac|D369N|486|PACSIN2|protein_coding|CODING|ENST00000403744|exon_22_43272894_43273016 0/1:99:198,0,228 . . . 22 43280404 rs200427054 G T NON_SYNONYMOUS_CODING PACSIN2 MODERATE|MISSENSE|tCc/tAc|S258Y|445|PACSIN2|protein_coding|CODING|ENST00000337959|exon_22_43280392_43280567 . 0/1:99:255,0,237 . . 22 43280404 rs200427054 G T NON_SYNONYMOUS_CODING PACSIN2 MODERATE|MISSENSE|tCc/tAc|S258Y|445|PACSIN2|protein_coding|CODING|ENST00000407585|exon_22_43280392_43280567 . 0/1:99:255,0,237 . . 22 43280404 rs200427054 G T NON_SYNONYMOUS_CODING PACSIN2 MODERATE|MISSENSE|tCc/tAc|S258Y|486|PACSIN2|protein_coding|CODING|ENST00000263246|exon_22_43280392_43280567 . 0/1:99:255,0,237 . . 22 43280404 rs200427054 G T NON_SYNONYMOUS_CODING PACSIN2 MODERATE|MISSENSE|tCc/tAc|S258Y|486|PACSIN2|protein_coding|CODING|ENST00000402229|exon_22_43280392_43280567 . 0/1:99:255,0,237 . . 22 43280404 rs200427054 G T NON_SYNONYMOUS_CODING PACSIN2 MODERATE|MISSENSE|tCc/tAc|S258Y|486|PACSIN2|protein_coding|CODING|ENST00000403744|exon_22_43280392_43280567 . 0/1:99:255,0,237 . . 22 43583051 rs146647114 G A NON_SYNONYMOUS_CODING TTLL12 MODERATE|MISSENSE|Cgc/Tgc|R9C|211|TTLL12|protein_coding|CODING|ENST00000357017|exon_22_43582899_43583137 0/1:20:87,0,17 . . 0/1:54:52,0,56 22 43583051 rs146647114 G A NON_SYNONYMOUS_CODING TTLL12 MODERATE|MISSENSE|Cgc/Tgc|R9C|636|TTLL12|protein_coding|CODING|ENST00000423379|exon_22_43582899_43583132 0/1:20:87,0,17 . . 0/1:54:52,0,56 22 43583051 rs146647114 G A NON_SYNONYMOUS_CODING TTLL12 MODERATE|MISSENSE|Cgc/Tgc|R9C|644|TTLL12|protein_coding|CODING|ENST00000216129|exon_22_43582899_43583139 0/1:20:87,0,17 . . 0/1:54:52,0,56 22 43936219 rs61995890 C T NON_SYNONYMOUS_CODING EFCAB6 MODERATE|MISSENSE|Gag/Aag|E1071K|1349|EFCAB6|protein_coding|CODING|ENST00000396231|exon_22_43936007_43936237 0/1:99:255,0,241 . . . 22 43936219 rs61995890 C T NON_SYNONYMOUS_CODING EFCAB6 MODERATE|MISSENSE|Gag/Aag|E1223K|1501|EFCAB6|protein_coding|CODING|ENST00000262726|exon_22_43936007_43936237 0/1:99:255,0,241 . . . 22 43950853 rs34955597 T G NON_SYNONYMOUS_CODING EFCAB6 MODERATE|MISSENSE|Acc/Ccc|T1030P|1349|EFCAB6|protein_coding|CODING|ENST00000396231|exon_22_43950749_43950976 . 1/1:99:255,78,0 . 0/1:99:190,0,234 22 43950853 rs34955597 T G NON_SYNONYMOUS_CODING EFCAB6 MODERATE|MISSENSE|Acc/Ccc|T1182P|1501|EFCAB6|protein_coding|CODING|ENST00000262726|exon_22_43950749_43950976 . 1/1:99:255,78,0 . 0/1:99:190,0,234 22 43950949 rs34344550 G A NON_SYNONYMOUS_CODING EFCAB6 MODERATE|MISSENSE|Ccc/Tcc|P1150S|1501|EFCAB6|protein_coding|CODING|ENST00000262726|exon_22_43950749_43950976 0/1:99:255,0,229 . . . 22 43950949 rs34344550 G A NON_SYNONYMOUS_CODING EFCAB6 MODERATE|MISSENSE|Ccc/Tcc|P998S|1349|EFCAB6|protein_coding|CODING|ENST00000396231|exon_22_43950749_43950976 0/1:99:255,0,229 . . . 22 44022493 rs143713526 G A NON_SYNONYMOUS_CODING EFCAB6 MODERATE|MISSENSE|Cac/Tac|H615Y|1349|EFCAB6|protein_coding|CODING|ENST00000396231|exon_22_44022327_44022559 . . . 0/1:99:247,0,255 22 44022493 rs143713526 G A NON_SYNONYMOUS_CODING EFCAB6 MODERATE|MISSENSE|Cac/Tac|H767Y|1501|EFCAB6|protein_coding|CODING|ENST00000262726|exon_22_44022327_44022559 . . . 0/1:99:247,0,255 22 44286950 rs2071883 G A NON_SYNONYMOUS_CODING PNPLA5 MODERATE|MISSENSE|Ctc/Ttc|L140F|267|PNPLA5|protein_coding|CODING|ENST00000438734|exon_22_44286942_44287174 0/1:99:176,0,230 . . . 22 44286950 rs2071883 G A NON_SYNONYMOUS_CODING PNPLA5 MODERATE|MISSENSE|Ctc/Ttc|L140F|429|PNPLA5|protein_coding|CODING|ENST00000216177|exon_22_44286942_44287174 0/1:99:176,0,230 . . . 22 45312345 rs8135982 C T NON_SYNONYMOUS_CODING PHF21B MODERATE|MISSENSE|Ggc/Agc|G115S|190|PHF21B|protein_coding|CODING|ENST00000420689|exon_22_45312160_45312510 . . 0/1:99:123,0,185 0/1:99:147,0,167 22 45312345 rs8135982 C T NON_SYNONYMOUS_CODING PHF21B MODERATE|MISSENSE|Ggc/Agc|G115S|290|PHF21B|protein_coding|CODING|ENST00000447824|exon_22_45312160_45312510 . . 0/1:99:123,0,185 0/1:99:147,0,167 22 45312345 rs8135982 C T NON_SYNONYMOUS_CODING PHF21B MODERATE|MISSENSE|Ggc/Agc|G115S|477|PHF21B|protein_coding|CODING|ENST00000404079|exon_22_45312160_45312510 . . 0/1:99:123,0,185 0/1:99:147,0,167 22 45312345 rs8135982 C T NON_SYNONYMOUS_CODING PHF21B MODERATE|MISSENSE|Ggc/Agc|G127S|489|PHF21B|protein_coding|CODING|ENST00000396103|exon_22_45312160_45312510 . . 0/1:99:123,0,185 0/1:99:147,0,167 22 45312345 rs8135982 C T NON_SYNONYMOUS_CODING PHF21B MODERATE|MISSENSE|Ggc/Agc|G127S|531|PHF21B|protein_coding|CODING|ENST00000313237|exon_22_45312160_45312510 . . 0/1:99:123,0,185 0/1:99:147,0,167 22 45749966 rs61735519 G C NON_SYNONYMOUS_CODING SMC1B MODERATE|MISSENSE|ttC/ttG|F1055L|1161|SMC1B|protein_coding|CODING|ENST00000404354|exon_22_45749858_45750012 . . 1/1:99:255,114,0 0/1:99:231,0,255 22 45749966 rs61735519 G C NON_SYNONYMOUS_CODING SMC1B MODERATE|MISSENSE|ttC/ttG|F1055L|1235|SMC1B|protein_coding|CODING|ENST00000357450|exon_22_45749858_45750012 . . 1/1:99:255,114,0 0/1:99:231,0,255 22 46501373 rs12159652 A G NON_SYNONYMOUS_CODING RP4-695O20__B.10.1 MODERATE|MISSENSE|Agt/Ggt|S98G|219|RP4-695O20__B.10.1|protein_coding|CODING|ENST00000381051|exon_22_46501289_46501903 . 0/1:99:160,0,108 . . 22 46505652 rs58819475 C G NON_SYNONYMOUS_CODING RP4-695O20__B.10.1 MODERATE|MISSENSE|cCt/cGt|P82R|160|RP4-695O20__B.10.1|protein_coding|CODING|ENST00000360737|exon_22_46505644_46509808 . 0/1:99:245,0,115 . . 22 46505786 rs61195212 T C NON_SYNONYMOUS_CODING RP4-695O20__B.10.1 MODERATE|MISSENSE|Tgg/Cgg|W127R|160|RP4-695O20__B.10.1|protein_coding|CODING|ENST00000360737|exon_22_46505644_46509808 . 0/1:99:223,0,240 . . 22 46505819 rs62225901 A T NON_SYNONYMOUS_CODING RP4-695O20__B.10.1 MODERATE|MISSENSE|Atg/Ttg|M138L|160|RP4-695O20__B.10.1|protein_coding|CODING|ENST00000360737|exon_22_46505644_46509808 . 0/1:99:222,0,253 . . 22 46931402 rs11575871 G C NON_SYNONYMOUS_CODING CELSR1 MODERATE|MISSENSE|Ctg/Gtg|L556V|1397|CELSR1|protein_coding|CODING|ENST00000395964|exon_22_46929524_46933067 . . . 0/1:75:151,0,72 22 46931402 rs11575871 G C NON_SYNONYMOUS_CODING CELSR1 MODERATE|MISSENSE|Ctg/Gtg|L556V|3014|CELSR1|protein_coding|CODING|ENST00000262738|exon_22_46929524_46933067 . . . 0/1:75:151,0,72 22 50014283 . C T NON_SYNONYMOUS_CODING C22orf34 MODERATE|MISSENSE|Gtg/Atg|V157M|195|C22orf34|protein_coding|CODING|ENST00000405854|exon_22_50014119_50014308 . . 0/1:99:184,0,190 . 22 50014283 . C T NON_SYNONYMOUS_CODING C22orf34 MODERATE|MISSENSE|cGt/cAt|R132H|183|C22orf34|protein_coding|CODING|ENST00000400023|exon_22_50013292_50014308 . . 0/1:99:184,0,190 . 22 50315382 rs74510325 C G NON_SYNONYMOUS_CODING CRELD2 MODERATE|MISSENSE|Cgg/Ggg|R189G|228|CRELD2|protein_coding|CODING|ENST00000450207|exon_22_50315233_50315409 . . 0/1:99:197,0,207 . 22 50315382 rs74510325 C G NON_SYNONYMOUS_CODING CRELD2 MODERATE|MISSENSE|Cgg/Ggg|R189G|321|CRELD2|protein_coding|CODING|ENST00000407217|exon_22_50315233_50315409 . . 0/1:99:197,0,207 . 22 50315382 rs74510325 C G NON_SYNONYMOUS_CODING CRELD2 MODERATE|MISSENSE|Cgg/Ggg|R189G|325|CRELD2|protein_coding|CODING|ENST00000403427|exon_22_50315233_50315409 . . 0/1:99:197,0,207 . 22 50315382 rs74510325 C G NON_SYNONYMOUS_CODING CRELD2 MODERATE|MISSENSE|Cgg/Ggg|R189G|353|CRELD2|protein_coding|CODING|ENST00000328268|exon_22_50315233_50315409 . . 0/1:99:197,0,207 . 22 50315382 rs74510325 C G NON_SYNONYMOUS_CODING CRELD2 MODERATE|MISSENSE|Cgg/Ggg|R189G|402|CRELD2|protein_coding|CODING|ENST00000404488|exon_22_50315233_50315409 . . 0/1:99:197,0,207 . 22 50454859 rs79699132 A T NON_SYNONYMOUS_CODING TTLL8 MODERATE|MISSENSE|aTg/aAg|M759K|814|TTLL8|protein_coding|CODING|ENST00000440475|exon_22_50454851_50454991 0/1:99:255,0,169 . . . 22 50454859 rs79699132 A T NON_SYNONYMOUS_CODING TTLL8 MODERATE|MISSENSE|aTg/aAg|M779K|834|TTLL8|protein_coding|CODING|ENST00000266182|exon_22_50454851_50454991 0/1:99:255,0,169 . . . 22 50454859 rs79699132 A T NON_SYNONYMOUS_CODING TTLL8 MODERATE|MISSENSE|aTg/aAg|M795K|848|TTLL8|protein_coding|CODING|ENST00000433387|exon_22_50454851_50454991 0/1:99:255,0,169 . . . 22 50546788 rs138215 G C NON_SYNONYMOUS_CODING MOV10L1 MODERATE|MISSENSE|aaG/aaC|K202N|210|MOV10L1|protein_coding|CODING|ENST00000428564|exon_22_50546565_50546807 0/1:99:213,0,255 1/1:99:255,99,0 0/1:99:219,0,254 0/1:99:180,0,251 22 50599466 rs2272843 C A NON_SYNONYMOUS_CODING MOV10L1 MODERATE|MISSENSE|gCa/gAa|A1133E|1165|MOV10L1|protein_coding|CODING|ENST00000395858|exon_22_50599393_50599484 0/1:99:255,0,246 . . . 22 50599466 rs2272843 C A NON_SYNONYMOUS_CODING MOV10L1 MODERATE|MISSENSE|gCa/gAa|A1179E|1211|MOV10L1|protein_coding|CODING|ENST00000262794|exon_22_50599393_50599484 0/1:99:255,0,246 . . . 22 50599466 rs2272843 C A NON_SYNONYMOUS_CODING MOV10L1 MODERATE|MISSENSE|gCa/gAa|A1179E|1211|MOV10L1|protein_coding|CODING|ENST00000545383|exon_22_50599393_50599484 0/1:99:255,0,246 . . . 22 50599466 rs2272843 C A NON_SYNONYMOUS_CODING MOV10L1 MODERATE|MISSENSE|gCa/gAa|A306E|338|MOV10L1|protein_coding|CODING|ENST00000395852|exon_22_50599393_50599484 0/1:99:255,0,246 . . . 22 50722167 rs28470336 T C NON_SYNONYMOUS_CODING PLXNB2 MODERATE|MISSENSE|Acg/Gcg|T812A|1838|PLXNB2|protein_coding|CODING|ENST00000359337|exon_22_50722031_50722179 . . 0/1:99:99,0,102 . 22 50722167 rs28470336 T C NON_SYNONYMOUS_CODING PLXNB2 MODERATE|MISSENSE|Acg/Gcg|T812A|1838|PLXNB2|protein_coding|CODING|ENST00000449103|exon_22_50722031_50722179 . . 0/1:99:99,0,102 . 22 50722408 rs79966207 T C NON_SYNONYMOUS_CODING PLXNB2 MODERATE|MISSENSE|Aac/Gac|N759D|1838|PLXNB2|protein_coding|CODING|ENST00000359337|exon_22_50722262_50722419 0/1:99:134,0,155 . . . 22 50722408 rs79966207 T C NON_SYNONYMOUS_CODING PLXNB2 MODERATE|MISSENSE|Aac/Gac|N759D|1838|PLXNB2|protein_coding|CODING|ENST00000449103|exon_22_50722262_50722419 0/1:99:134,0,155 . . . 22 50726149 . C T NON_SYNONYMOUS_CODING PLXNB2 MODERATE|MISSENSE|Gtg/Atg|V519M|1838|PLXNB2|protein_coding|CODING|ENST00000359337|exon_22_50726096_50726222 . . 0/1:99:115,0,182 . 22 50726149 . C T NON_SYNONYMOUS_CODING PLXNB2 MODERATE|MISSENSE|Gtg/Atg|V519M|1838|PLXNB2|protein_coding|CODING|ENST00000449103|exon_22_50726096_50726222 . . 0/1:99:115,0,182 . 22 50876662 rs11555194 T G NON_SYNONYMOUS_CODING PPP6R2 MODERATE|MISSENSE|gaT/gaG|D606E|927|PPP6R2|protein_coding|CODING|ENST00000359139|exon_22_50876603_50876727 . . 0/1:99:104,0,255 . 22 50876662 rs11555194 T G NON_SYNONYMOUS_CODING PPP6R2 MODERATE|MISSENSE|gaT/gaG|D606E|932|PPP6R2|protein_coding|CODING|ENST00000395744|exon_22_50876603_50876727 . . 0/1:99:104,0,255 . 22 50876662 rs11555194 T G NON_SYNONYMOUS_CODING PPP6R2 MODERATE|MISSENSE|gaT/gaG|D607E|933|PPP6R2|protein_coding|CODING|ENST00000395741|exon_22_50876603_50876727 . . 0/1:99:104,0,255 . 22 50876662 rs11555194 T G NON_SYNONYMOUS_CODING PPP6R2 MODERATE|MISSENSE|gaT/gaG|D633E|966|PPP6R2|protein_coding|CODING|ENST00000216061|exon_22_50876603_50876727 . . 0/1:99:104,0,255 . 22 50900128 rs201519518 C T NON_SYNONYMOUS_CODING SBF1 MODERATE|MISSENSE|cGc/cAc|R888H|1867|SBF1|protein_coding|CODING|ENST00000390679|exon_22_50899952_50900147 . . . 0/1:99:99,0,192 22 50900128 rs201519518 C T NON_SYNONYMOUS_CODING SBF1 MODERATE|MISSENSE|cGc/cAc|R888H|1893|SBF1|protein_coding|CODING|ENST00000380817|exon_22_50899952_50900147 . . . 0/1:99:99,0,192 22 50900128 rs201519518 C T NON_SYNONYMOUS_CODING SBF1 MODERATE|MISSENSE|cGc/cAc|R889H|1868|SBF1|protein_coding|CODING|ENST00000348911|exon_22_50899952_50900147 . . . 0/1:99:99,0,192 22 50900128 rs201519518 C T NON_SYNONYMOUS_CODING SBF1 MODERATE|MISSENSE|cGc/cAc|R898H|1903|SBF1|protein_coding|CODING|ENST00000337034|exon_22_50899952_50900147 . . . 0/1:99:99,0,192 22 50942121 rs13056405 C T NON_SYNONYMOUS_CODING LMF2 MODERATE|MISSENSE|aGc/aAc|S495N|594|LMF2|protein_coding|CODING|ENST00000380796|exon_22_50941376_50942128 . . 0/1:99:168,0,133 . 22 50942121 rs13056405 C T NON_SYNONYMOUS_CODING LMF2 MODERATE|MISSENSE|aGc/aAc|S583N|682|LMF2|protein_coding|CODING|ENST00000216080|exon_22_50941380_50942128 . . 0/1:99:168,0,133 . 22 50942121 rs13056405 C T NON_SYNONYMOUS_CODING LMF2 MODERATE|MISSENSE|aGc/aAc|S608N|707|LMF2|protein_coding|CODING|ENST00000474879|exon_22_50941378_50942128 . . 0/1:99:168,0,133 . 22 50943232 rs8136495 G A NON_SYNONYMOUS_CODING LMF2 MODERATE|MISSENSE|aCg/aTg|T454M|682|LMF2|protein_coding|CODING|ENST00000216080|exon_22_50943231_50943413 . . 0/1:99:121,0,137 . 22 50943232 rs8136495 G A NON_SYNONYMOUS_CODING LMF2 MODERATE|MISSENSE|aCg/aTg|T479M|707|LMF2|protein_coding|CODING|ENST00000474879|exon_22_50943231_50943413 . . 0/1:99:121,0,137 . 22 50970068 rs141953471 C T NON_SYNONYMOUS_CODING ODF3B MODERATE|MISSENSE|Gac/Aac|D82N|253|ODF3B|protein_coding|CODING|ENST00000329363|exon_22_50969999_50970202 . . . 0/1:34:154,0,31 22 50970068 rs141953471 C T NON_SYNONYMOUS_CODING ODF3B MODERATE|MISSENSE|Gac/Aac|D82N|253|ODF3B|protein_coding|CODING|ENST00000428989|exon_22_50969999_50970202 . . . 0/1:34:154,0,31 22 50970068 rs141953471 C T NON_SYNONYMOUS_CODING ODF3B MODERATE|MISSENSE|Gac/Aac|D82N|281|ODF3B|protein_coding|CODING|ENST00000405135|exon_22_50969999_50970202 . . . 0/1:34:154,0,31 22 50970068 rs141953471 C T NON_SYNONYMOUS_CODING ODF3B MODERATE|MISSENSE|cGa/cAa|R48Q|154|ODF3B|protein_coding|CODING|ENST00000438960|exon_22_50969893_50970186 . . . 0/1:34:154,0,31 22 50970068 rs141953471 C T NON_SYNONYMOUS_CODING ODF3B MODERATE|MISSENSE|cGa/cAa|R58Q|242|ODF3B|protein_coding|CODING|ENST00000401779|exon_22_50969999_50970131 . . . 0/1:34:154,0,31 22 50988105 rs36062310 G A NON_SYNONYMOUS_CODING KLHDC7B MODERATE|MISSENSE|Gtg/Atg|V504M|594|KLHDC7B|protein_coding|CODING|ENST00000395676|exon_22_50986462_50989451 . . 0/1:99:255,0,97 . 22 51048400 rs2269380 A G NON_SYNONYMOUS_CODING MAPK8IP2 MODERATE|MISSENSE|Acg/Gcg|T528A|598|MAPK8IP2|protein_coding|CODING|ENST00000008876|exon_22_51048346_51048443 . 0/1:99:255,0,111 . . 2 1168781 rs28505970 C A NON_SYNONYMOUS_CODING SNTG2 MODERATE|MISSENSE|tCc/tAc|S168Y|539|SNTG2|protein_coding|CODING|ENST00000308624|exon_2_1168778_1168869 0/1:99:255,0,255 0/1:99:172,0,224 . . 2 1204796 rs6751090 C T NON_SYNONYMOUS_CODING SNTG2 MODERATE|MISSENSE|tCg/tTg|S200L|539|SNTG2|protein_coding|CODING|ENST00000308624|exon_2_1204789_1204916 0/1:99:249,0,238 . . . 2 1204796 rs6751090 C T NON_SYNONYMOUS_CODING SNTG2 MODERATE|MISSENSE|tCg/tTg|S73L|412|SNTG2|protein_coding|CODING|ENST00000407292|exon_2_1204789_1204916 0/1:99:249,0,238 . . . 2 1271230 rs13023962 A G NON_SYNONYMOUS_CODING SNTG2 MODERATE|MISSENSE|Atc/Gtc|I264V|412|SNTG2|protein_coding|CODING|ENST00000407292|exon_2_1271137_1271343 1/1:99:255,81,0 1/1:99:255,69,0 . 0/1:99:255,0,194 2 1271230 rs13023962 A G NON_SYNONYMOUS_CODING SNTG2 MODERATE|MISSENSE|Atc/Gtc|I391V|539|SNTG2|protein_coding|CODING|ENST00000308624|exon_2_1271137_1271343 1/1:99:255,81,0 1/1:99:255,69,0 . 0/1:99:255,0,194 2 1667449 rs185623598 G C NON_SYNONYMOUS_CODING PXDN MODERATE|MISSENSE|Cag/Gag|Q499E|1479|PXDN|protein_coding|CODING|ENST00000252804|exon_2_1667377_1667535 0/1:99:253,0,255 . . . 2 3212559 rs140640009 C G NON_SYNONYMOUS_CODING TSSC1 MODERATE|MISSENSE|aGc/aCc|S229T|314|TSSC1|protein_coding|CODING|ENST00000443925|exon_2_3211575_3212728 . . 0/1:99:163,0,230 . 2 3212694 . G A NON_SYNONYMOUS_CODING TSSC1 MODERATE|MISSENSE|aCg/aTg|T184M|314|TSSC1|protein_coding|CODING|ENST00000443925|exon_2_3211575_3212728 . 0/1:99:198,0,255 . . 2 3212712 rs28705690 T C NON_SYNONYMOUS_CODING TSSC1 MODERATE|MISSENSE|cAt/cGt|H178R|314|TSSC1|protein_coding|CODING|ENST00000443925|exon_2_3211575_3212728 . 0/1:99:255,0,202 . . 2 3751606 rs56104311 C T NON_SYNONYMOUS_CODING DCDC2C MODERATE|MISSENSE|Cgc/Tgc|R52C|297|DCDC2C|protein_coding|CODING|ENST00000423741|exon_2_3751453_3751628 0/1:60:57,0,178 . 0/1:99:194,0,129 . 2 8998871 rs16866827 T C NON_SYNONYMOUS_CODING MBOAT2 MODERATE|MISSENSE|Aca/Gca|T501A|520|MBOAT2|protein_coding|CODING|ENST00000305997|exon_2_8992820_8999034 . . . 0/1:99:255,0,255 2 9114543 rs62119989 C T NON_SYNONYMOUS_CODING MBOAT2 MODERATE|MISSENSE|Ggg/Agg|G33R|175|MBOAT2|protein_coding|CODING|ENST00000462696|exon_2_9114488_9114564 . . . 0/1:99:255,0,183 2 10192477 rs199770737 G A NON_SYNONYMOUS_CODING KLF11 MODERATE|MISSENSE|cGa/cAa|R444Q|495|KLF11|protein_coding|CODING|ENST00000535335|exon_2_10192354_10194963 . . 0/1:99:247,0,219 . 2 10192477 rs199770737 G A NON_SYNONYMOUS_CODING KLF11 MODERATE|MISSENSE|cGa/cAa|R444Q|495|KLF11|protein_coding|CODING|ENST00000540845|exon_2_10192354_10194963 . . 0/1:99:247,0,219 . 2 10192477 rs199770737 G A NON_SYNONYMOUS_CODING KLF11 MODERATE|MISSENSE|cGa/cAa|R461Q|512|KLF11|protein_coding|CODING|ENST00000305883|exon_2_10192354_10194963 . . 0/1:99:247,0,219 . 2 11706693 rs4669751 T C NON_SYNONYMOUS_CODING GREB1 MODERATE|MISSENSE|gTc/gCc|V122A|1949|GREB1|protein_coding|CODING|ENST00000234142|exon_2_11706606_11706782 . 0/1:99:202,0,226 . . 2 11706693 rs4669751 T C NON_SYNONYMOUS_CODING GREB1 MODERATE|MISSENSE|gTc/gCc|V122A|1949|GREB1|protein_coding|CODING|ENST00000381486|exon_2_11706606_11706782 . 0/1:99:202,0,226 . . 2 11706693 rs4669751 T C NON_SYNONYMOUS_CODING GREB1 MODERATE|MISSENSE|gTc/gCc|V122A|409|GREB1|protein_coding|CODING|ENST00000263834|exon_2_11706606_11706782 . 0/1:99:202,0,226 . . 2 11706693 rs4669751 T C NON_SYNONYMOUS_CODING GREB1 MODERATE|MISSENSE|gTc/gCc|V122A|457|GREB1|protein_coding|CODING|ENST00000381483|exon_2_11706606_11706782 . 0/1:99:202,0,226 . . 2 11706693 rs4669751 T C NON_SYNONYMOUS_CODING GREB1 MODERATE|MISSENSE|gTc/gCc|V12A|253|GREB1|protein_coding|CODING|ENST00000389825|exon_2_11706606_11706782 . 0/1:99:202,0,226 . . 2 11720986 rs13004648 G A NON_SYNONYMOUS_CODING GREB1 MODERATE|MISSENSE|gGg/gAg|G200E|253|GREB1|protein_coding|CODING|ENST00000389825|exon_2_11720830_11721391 . 0/1:99:240,0,255 . . 2 11725947 rs35188552 T C NON_SYNONYMOUS_CODING GREB1 MODERATE|MISSENSE|Ttt/Ctt|F359L|1949|GREB1|protein_coding|CODING|ENST00000234142|exon_2_11725888_11726031 0/1:99:255,0,194 . . . 2 11725947 rs35188552 T C NON_SYNONYMOUS_CODING GREB1 MODERATE|MISSENSE|Ttt/Ctt|F359L|1949|GREB1|protein_coding|CODING|ENST00000381486|exon_2_11725888_11726031 0/1:99:255,0,194 . . . 2 11725947 rs35188552 T C NON_SYNONYMOUS_CODING GREB1 MODERATE|MISSENSE|Ttt/Ctt|F359L|409|GREB1|protein_coding|CODING|ENST00000263834|exon_2_11725888_11726031 0/1:99:255,0,194 . . . 2 11725947 rs35188552 T C NON_SYNONYMOUS_CODING GREB1 MODERATE|MISSENSE|Ttt/Ctt|F359L|457|GREB1|protein_coding|CODING|ENST00000381483|exon_2_11725888_11726031 0/1:99:255,0,194 . . . 2 11728854 rs72772076 G A NON_SYNONYMOUS_CODING GREB1 MODERATE|MISSENSE|cGc/cAc|R15H|540|GREB1|protein_coding|CODING|ENST00000432985|exon_2_11728382_11729057 . . . 0/1:99:197,0,156 2 11736305 rs36030386 G A NON_SYNONYMOUS_CODING GREB1 MODERATE|MISSENSE|Gct/Act|A266T|540|GREB1|protein_coding|CODING|ENST00000432985|exon_2_11736237_11736365 0/1:99:186,0,122 . . . 2 11736305 rs36030386 G A NON_SYNONYMOUS_CODING GREB1 MODERATE|MISSENSE|Gct/Act|A632T|1949|GREB1|protein_coding|CODING|ENST00000234142|exon_2_11736237_11736365 0/1:99:186,0,122 . . . 2 11736305 rs36030386 G A NON_SYNONYMOUS_CODING GREB1 MODERATE|MISSENSE|Gct/Act|A632T|1949|GREB1|protein_coding|CODING|ENST00000381486|exon_2_11736237_11736365 0/1:99:186,0,122 . . . 2 15468425 rs34962722 A C NON_SYNONYMOUS_CODING NBAS MODERATE|MISSENSE|tgT/tgG|C1333W|2251|NBAS|protein_coding|CODING|ENST00000441750|exon_2_15468323_15468436 0/1:99:255,0,255 . . . 2 15468425 rs34962722 A C NON_SYNONYMOUS_CODING NBAS MODERATE|MISSENSE|tgT/tgG|C1453W|2371|NBAS|protein_coding|CODING|ENST00000281513|exon_2_15468323_15468436 0/1:99:255,0,255 . . . 2 17897488 rs35195207 T C NON_SYNONYMOUS_CODING SMC6 MODERATE|MISSENSE|Agg/Ggg|R464G|1091|SMC6|protein_coding|CODING|ENST00000351948|exon_2_17897353_17897531 . . . 0/1:99:255,0,254 2 17897488 rs35195207 T C NON_SYNONYMOUS_CODING SMC6 MODERATE|MISSENSE|Agg/Ggg|R464G|1091|SMC6|protein_coding|CODING|ENST00000402989|exon_2_17897353_17897531 . . . 0/1:99:255,0,254 2 17897488 rs35195207 T C NON_SYNONYMOUS_CODING SMC6 MODERATE|MISSENSE|Agg/Ggg|R464G|1091|SMC6|protein_coding|CODING|ENST00000448223|exon_2_17897353_17897531 . . . 0/1:99:255,0,254 2 17897488 rs35195207 T C NON_SYNONYMOUS_CODING SMC6 MODERATE|MISSENSE|Agg/Ggg|R490G|1117|SMC6|protein_coding|CODING|ENST00000381272|exon_2_17897353_17897531 . . . 0/1:99:255,0,254 2 17897488 rs35195207 T C NON_SYNONYMOUS_CODING SMC6 MODERATE|MISSENSE|Agg/Ggg|R490G|739|SMC6|protein_coding|CODING|ENST00000446852|exon_2_17897353_17897531 . . . 0/1:99:255,0,254 2 17963123 rs77424145 A G NON_SYNONYMOUS_CODING GEN1 MODERATE|MISSENSE|Aag/Gag|K882E|908|GEN1|protein_coding|CODING|ENST00000317402|exon_2_17961888_17966076 . . . 0/1:99:255,0,255 2 17963123 rs77424145 A G NON_SYNONYMOUS_CODING GEN1 MODERATE|MISSENSE|Aag/Gag|K882E|908|GEN1|protein_coding|CODING|ENST00000381254|exon_2_17961888_17966632 . . . 0/1:99:255,0,255 2 20818883 rs35579164 G C NON_SYNONYMOUS_CODING HS1BP3 MODERATE|MISSENSE|cCc/cGc|P348R|392|HS1BP3|protein_coding|CODING|ENST00000304031|exon_2_20817582_20819005 . 0/1:99:255,0,241 . . 2 20840705 rs142457134 G A NON_SYNONYMOUS_CODING HS1BP3 MODERATE|MISSENSE|tCa/tTa|S145L|199|HS1BP3|protein_coding|CODING|ENST00000406618|exon_2_20839785_20840940 0/1:99:255,0,219 . . . 2 21225912 rs1801703 C T NON_SYNONYMOUS_CODING APOB MODERATE|MISSENSE|Gtg/Atg|V4128M|4344|APOB|protein_coding|CODING|ENST00000535079|exon_2_21225268_21226206 . 0/1:99:255,0,255 . . 2 21225912 rs1801703 C T NON_SYNONYMOUS_CODING APOB MODERATE|MISSENSE|Gtg/Atg|V4128M|4563|APOB|protein_coding|CODING|ENST00000233242|exon_2_21224301_21226206 . 0/1:99:255,0,255 . . 2 21228827 rs1801701 C T NON_SYNONYMOUS_CODING APOB MODERATE|MISSENSE|cGg/cAg|R3638Q|4344|APOB|protein_coding|CODING|ENST00000535079|exon_2_21227952_21235523 . . . 0/1:99:255,0,255 2 21228827 rs1801701 C T NON_SYNONYMOUS_CODING APOB MODERATE|MISSENSE|cGg/cAg|R3638Q|4563|APOB|protein_coding|CODING|ENST00000233242|exon_2_21227952_21235523 . . . 0/1:99:255,0,255 2 23746876 rs139014733 G A NON_SYNONYMOUS_CODING AC011239.1.1 MODERATE|MISSENSE|aCg/aTg|T29M|109|AC011239.1.1|protein_coding|CODING|ENST00000430988|exon_2_23746821_23747214 . . 0/1:99:218,0,255 . 2 23914569 rs184843294 G A NON_SYNONYMOUS_CODING KLHL29 MODERATE|MISSENSE|Ggc/Agc|G369S|875|KLHL29|protein_coding|CODING|ENST00000486442|exon_2_23914544_23914746 . 0/1:99:229,0,159 . . 2 24413298 rs2288073 A G NON_SYNONYMOUS_CODING C2orf84 MODERATE|MISSENSE|tAt/tGt|Y140C|206|C2orf84|protein_coding|CODING|ENST00000295150|exon_2_24413281_24414567 0/1:99:255,0,255 0/1:99:255,0,255 . . 2 24413298 rs2288073 A G NON_SYNONYMOUS_CODING C2orf84 MODERATE|MISSENSE|tAt/tGt|Y41C|136|C2orf84|protein_coding|CODING|ENST00000415196|exon_2_24413281_24413422 0/1:99:255,0,255 0/1:99:255,0,255 . . 2 25384113 rs80326661 T C NON_SYNONYMOUS_CODING POMC MODERATE|MISSENSE|gAg/gGg|E214G|245|POMC|protein_coding|CODING|ENST00000449220|exon_2_25384015_25384621 . . 0/1:99:199,0,232 . 2 25384113 rs80326661 T C NON_SYNONYMOUS_CODING POMC MODERATE|MISSENSE|gAg/gGg|E214G|267|POMC|protein_coding|CODING|ENST00000264708|exon_2_25383854_25384621 . . 0/1:99:199,0,232 . 2 25384113 rs80326661 T C NON_SYNONYMOUS_CODING POMC MODERATE|MISSENSE|gAg/gGg|E214G|267|POMC|protein_coding|CODING|ENST00000380794|exon_2_25383722_25384621 . . 0/1:99:199,0,232 . 2 25384113 rs80326661 T C NON_SYNONYMOUS_CODING POMC MODERATE|MISSENSE|gAg/gGg|E214G|267|POMC|protein_coding|CODING|ENST00000395826|exon_2_25383922_25384621 . . 0/1:99:199,0,232 . 2 25384113 rs80326661 T C NON_SYNONYMOUS_CODING POMC MODERATE|MISSENSE|gAg/gGg|E214G|267|POMC|protein_coding|CODING|ENST00000405623|exon_2_25383784_25384621 . . 0/1:99:199,0,232 . 2 25384456 . CGCCGCTGCTGCCGCTGCTGC CGCCGCTGCTGCCGCTGCTGCCGCTGCTGC CODON_INSERTION POMC MODERATE||-/GCAGCAGCG|-93AAA|245|POMC|protein_coding|CODING|ENST00000449220|exon_2_25384015_25384621 . . . 0/1:92:89,0,139 2 25384456 . CGCCGCTGCTGCCGCTGCTGC CGCCGCTGCTGCCGCTGCTGCCGCTGCTGC CODON_INSERTION POMC MODERATE||-/GCAGCAGCG|-93AAA|267|POMC|protein_coding|CODING|ENST00000264708|exon_2_25383854_25384621 . . . 0/1:92:89,0,139 2 25384456 . CGCCGCTGCTGCCGCTGCTGC CGCCGCTGCTGCCGCTGCTGCCGCTGCTGC CODON_INSERTION POMC MODERATE||-/GCAGCAGCG|-93AAA|267|POMC|protein_coding|CODING|ENST00000380794|exon_2_25383722_25384621 . . . 0/1:92:89,0,139 2 25384456 . CGCCGCTGCTGCCGCTGCTGC CGCCGCTGCTGCCGCTGCTGCCGCTGCTGC CODON_INSERTION POMC MODERATE||-/GCAGCAGCG|-93AAA|267|POMC|protein_coding|CODING|ENST00000395826|exon_2_25383922_25384621 . . . 0/1:92:89,0,139 2 25384456 . CGCCGCTGCTGCCGCTGCTGC CGCCGCTGCTGCCGCTGCTGCCGCTGCTGC CODON_INSERTION POMC MODERATE||-/GCAGCAGCG|-93AAA|267|POMC|protein_coding|CODING|ENST00000405623|exon_2_25383784_25384621 . . . 0/1:92:89,0,139 2 26532443 rs72851588 T C NON_SYNONYMOUS_CODING GPR113 MODERATE|MISSENSE|Aat/Gat|N653D|675|GPR113|protein_coding|CODING|ENST00000541401|exon_2_26532394_26532449 0/1:99:253,0,255 . . 0/1:99:198,0,255 2 26532443 rs72851588 T C NON_SYNONYMOUS_CODING GPR113 MODERATE|MISSENSE|Aat/Gat|N851D|873|GPR113|protein_coding|CODING|ENST00000333478|exon_2_26532394_26532449 0/1:99:253,0,255 . . 0/1:99:198,0,255 2 26532443 rs72851588 T C NON_SYNONYMOUS_CODING GPR113 MODERATE|MISSENSE|Aat/Gat|N981D|997|GPR113|protein_coding|CODING|ENST00000421160|exon_2_26532084_26532449 0/1:99:253,0,255 . . 0/1:99:198,0,255 2 26534813 rs111756480 A G NON_SYNONYMOUS_CODING GPR113 MODERATE|MISSENSE|Tgc/Cgc|C198R|675|GPR113|protein_coding|CODING|ENST00000541401|exon_2_26533560_26534942 0/1:99:219,0,101 . . . 2 26534813 rs111756480 A G NON_SYNONYMOUS_CODING GPR113 MODERATE|MISSENSE|Tgc/Cgc|C396R|873|GPR113|protein_coding|CODING|ENST00000333478|exon_2_26533560_26534942 0/1:99:219,0,101 . . . 2 26534813 rs111756480 A G NON_SYNONYMOUS_CODING GPR113 MODERATE|MISSENSE|Tgc/Cgc|C526R|997|GPR113|protein_coding|CODING|ENST00000421160|exon_2_26533560_26534942 0/1:99:219,0,101 . . . 2 26534813 rs111756480 A G NON_SYNONYMOUS_CODING GPR113 MODERATE|MISSENSE|Tgc/Cgc|C595R|1079|GPR113|protein_coding|CODING|ENST00000311519|exon_2_26533560_26534942 0/1:99:219,0,101 . . . 2 26534872 rs79413730 C T NON_SYNONYMOUS_CODING GPR113 MODERATE|MISSENSE|cGg/cAg|R178Q|675|GPR113|protein_coding|CODING|ENST00000541401|exon_2_26533560_26534942 0/1:99:242,0,189 . . 0/1:99:244,0,160 2 26534872 rs79413730 C T NON_SYNONYMOUS_CODING GPR113 MODERATE|MISSENSE|cGg/cAg|R376Q|873|GPR113|protein_coding|CODING|ENST00000333478|exon_2_26533560_26534942 0/1:99:242,0,189 . . 0/1:99:244,0,160 2 26534872 rs79413730 C T NON_SYNONYMOUS_CODING GPR113 MODERATE|MISSENSE|cGg/cAg|R506Q|997|GPR113|protein_coding|CODING|ENST00000421160|exon_2_26533560_26534942 0/1:99:242,0,189 . . 0/1:99:244,0,160 2 26534872 rs79413730 C T NON_SYNONYMOUS_CODING GPR113 MODERATE|MISSENSE|cGg/cAg|R575Q|1079|GPR113|protein_coding|CODING|ENST00000311519|exon_2_26533560_26534942 0/1:99:242,0,189 . . 0/1:99:244,0,160 2 26536727 rs74987785 C T NON_SYNONYMOUS_CODING GPR113 MODERATE|MISSENSE|Gtt/Att|V194I|873|GPR113|protein_coding|CODING|ENST00000333478|exon_2_26536628_26536771 0/1:99:245,0,255 . . 0/1:99:250,0,173 2 26536727 rs74987785 C T NON_SYNONYMOUS_CODING GPR113 MODERATE|MISSENSE|Gtt/Att|V324I|997|GPR113|protein_coding|CODING|ENST00000421160|exon_2_26536628_26536771 0/1:99:245,0,255 . . 0/1:99:250,0,173 2 26536727 rs74987785 C T NON_SYNONYMOUS_CODING GPR113 MODERATE|MISSENSE|Gtt/Att|V393I|1079|GPR113|protein_coding|CODING|ENST00000311519|exon_2_26536628_26536771 0/1:99:245,0,255 . . 0/1:99:250,0,173 2 26678082 rs115095929 A C NON_SYNONYMOUS_CODING CCDC164 MODERATE|MISSENSE|cAg/cCg|Q716P|740|CCDC164|protein_coding|CODING|ENST00000288710|exon_2_26677999_26678101 0/1:99:205,0,220 . . . 2 26697422 rs80356574 C G NON_SYNONYMOUS_CODING OTOF MODERATE|MISSENSE|Gcc/Ccc|A1083P|1997|OTOF|protein_coding|CODING|ENST00000272371|exon_2_26697381_26697542 . 0/1:56:104,0,53 . . 2 26697422 rs80356574 C G NON_SYNONYMOUS_CODING OTOF MODERATE|MISSENSE|Gcc/Ccc|A1083P|1997|OTOF|protein_coding|CODING|ENST00000403946|exon_2_26697381_26697542 . 0/1:56:104,0,53 . . 2 26697422 rs80356574 C G NON_SYNONYMOUS_CODING OTOF MODERATE|MISSENSE|Gcc/Ccc|A336P|1230|OTOF|protein_coding|CODING|ENST00000338581|exon_2_26697381_26697542 . 0/1:56:104,0,53 . . 2 26697422 rs80356574 C G NON_SYNONYMOUS_CODING OTOF MODERATE|MISSENSE|Gcc/Ccc|A336P|1230|OTOF|protein_coding|CODING|ENST00000339598|exon_2_26697381_26697542 . 0/1:56:104,0,53 . . 2 26697422 rs80356574 C G NON_SYNONYMOUS_CODING OTOF MODERATE|MISSENSE|Gcc/Ccc|A393P|1307|OTOF|protein_coding|CODING|ENST00000402415|exon_2_26697381_26697542 . 0/1:56:104,0,53 . . 2 26700099 rs80356570 G A NON_SYNONYMOUS_CODING OTOF MODERATE|MISSENSE|Cgg/Tgg|R132W|1307|OTOF|protein_coding|CODING|ENST00000402415|exon_2_26700040_26700156 . 0/1:99:112,0,151 . . 2 26700099 rs80356570 G A NON_SYNONYMOUS_CODING OTOF MODERATE|MISSENSE|Cgg/Tgg|R75W|1230|OTOF|protein_coding|CODING|ENST00000338581|exon_2_26700040_26700156 . 0/1:99:112,0,151 . . 2 26700099 rs80356570 G A NON_SYNONYMOUS_CODING OTOF MODERATE|MISSENSE|Cgg/Tgg|R75W|1230|OTOF|protein_coding|CODING|ENST00000339598|exon_2_26700040_26700156 . 0/1:99:112,0,151 . . 2 26700099 rs80356570 G A NON_SYNONYMOUS_CODING OTOF MODERATE|MISSENSE|Cgg/Tgg|R822W|1997|OTOF|protein_coding|CODING|ENST00000272371|exon_2_26700040_26700156 . 0/1:99:112,0,151 . . 2 26700099 rs80356570 G A NON_SYNONYMOUS_CODING OTOF MODERATE|MISSENSE|Cgg/Tgg|R822W|1997|OTOF|protein_coding|CODING|ENST00000403946|exon_2_26700040_26700156 . 0/1:99:112,0,151 . . 2 26702223 rs145019640 C T NON_SYNONYMOUS_CODING OTOF MODERATE|MISSENSE|cGa/cAa|R708Q|1997|OTOF|protein_coding|CODING|ENST00000272371|exon_2_26702132_26702252 . . . 0/1:99:205,0,223 2 26702223 rs145019640 C T NON_SYNONYMOUS_CODING OTOF MODERATE|MISSENSE|cGa/cAa|R708Q|1997|OTOF|protein_coding|CODING|ENST00000403946|exon_2_26702132_26702252 . . . 0/1:99:205,0,223 2 27167617 rs41288789 G A NON_SYNONYMOUS_CODING DPYSL5 MODERATE|MISSENSE|Gca/Aca|A512T|564|DPYSL5|protein_coding|CODING|ENST00000288699|exon_2_27167524_27167692 . . 0/1:99:255,0,236 . 2 27167617 rs41288789 G A NON_SYNONYMOUS_CODING DPYSL5 MODERATE|MISSENSE|Gca/Aca|A512T|564|DPYSL5|protein_coding|CODING|ENST00000401478|exon_2_27167524_27167692 . . 0/1:99:255,0,236 . 2 27260957 rs116333153 C T NON_SYNONYMOUS_CODING TMEM214 MODERATE|MISSENSE|Ccc/Tcc|P26S|305|TMEM214|protein_coding|CODING|ENST00000444135|exon_2_27260900_27261105 . . . 0/1:94:91,0,163 2 27261065 . G A NON_SYNONYMOUS_CODING TMEM214 MODERATE|MISSENSE|Gtc/Atc|V142I|429|TMEM214|protein_coding|CODING|ENST00000537397|exon_2_27261014_27261105 . . . 0/1:99:199,0,255 2 27261065 . G A NON_SYNONYMOUS_CODING TMEM214 MODERATE|MISSENSE|Gtc/Atc|V357I|644|TMEM214|protein_coding|CODING|ENST00000404032|exon_2_27261014_27261105 . . . 0/1:99:199,0,255 2 27261065 . G A NON_SYNONYMOUS_CODING TMEM214 MODERATE|MISSENSE|Gtc/Atc|V402I|689|TMEM214|protein_coding|CODING|ENST00000238788|exon_2_27261014_27261105 . . . 0/1:99:199,0,255 2 27261065 . G A NON_SYNONYMOUS_CODING TMEM214 MODERATE|MISSENSE|Gtc/Atc|V62I|305|TMEM214|protein_coding|CODING|ENST00000444135|exon_2_27260900_27261105 . . . 0/1:99:199,0,255 2 27320480 rs143669793 G A NON_SYNONYMOUS_CODING KHK MODERATE|MISSENSE|cGa/cAa|R176Q|298|KHK|protein_coding|CODING|ENST00000260598|exon_2_27320371_27320517 0/1:99:231,0,156 . . . 2 27320480 rs143669793 G A NON_SYNONYMOUS_CODING KHK MODERATE|MISSENSE|cGa/cAa|R176Q|298|KHK|protein_coding|CODING|ENST00000260599|exon_2_27320371_27320517 0/1:99:231,0,156 . . . 2 27320480 rs143669793 G A NON_SYNONYMOUS_CODING KHK MODERATE|MISSENSE|cGa/cAa|R221Q|278|KHK|protein_coding|CODING|ENST00000429697|exon_2_27320371_27320517 0/1:99:231,0,156 . . . 2 27327221 rs112618911 G A NON_SYNONYMOUS_CODING CGREF1 MODERATE|MISSENSE|aCg/aTg|T127M|440|CGREF1|protein_coding|CODING|ENST00000404694|exon_2_27327155_27327605 . . . 0/1:99:194,0,190 2 27327221 rs112618911 G A NON_SYNONYMOUS_CODING CGREF1 MODERATE|MISSENSE|aCg/aTg|T5M|132|CGREF1|protein_coding|CODING|ENST00000402550|exon_2_27327155_27327245 . . . 0/1:99:194,0,190 2 27327221 rs112618911 G A NON_SYNONYMOUS_CODING CGREF1 MODERATE|MISSENSE|aCg/aTg|T5M|301|CGREF1|protein_coding|CODING|ENST00000260595|exon_2_27327155_27327245 . . . 0/1:99:194,0,190 2 27327221 rs112618911 G A NON_SYNONYMOUS_CODING CGREF1 MODERATE|MISSENSE|aCg/aTg|T5M|301|CGREF1|protein_coding|CODING|ENST00000389521|exon_2_27327155_27327245 . . . 0/1:99:194,0,190 2 27327221 rs112618911 G A NON_SYNONYMOUS_CODING CGREF1 MODERATE|MISSENSE|aCg/aTg|T5M|318|CGREF1|protein_coding|CODING|ENST00000312734|exon_2_27327155_27327245 . . . 0/1:99:194,0,190 2 27327221 rs112618911 G A NON_SYNONYMOUS_CODING CGREF1 MODERATE|MISSENSE|aCg/aTg|T5M|318|CGREF1|protein_coding|CODING|ENST00000402394|exon_2_27327155_27327245 . . . 0/1:99:194,0,190 2 27327221 rs112618911 G A NON_SYNONYMOUS_CODING CGREF1 MODERATE|MISSENSE|aCg/aTg|T5M|318|CGREF1|protein_coding|CODING|ENST00000405600|exon_2_27327155_27327245 . . . 0/1:99:194,0,190 2 27485720 rs149400133 G A NON_SYNONYMOUS_CODING SLC30A3 MODERATE|MISSENSE|Cgg/Tgg|R19W|388|SLC30A3|protein_coding|CODING|ENST00000233535|exon_2_27485680_27486127 . . . 0/1:99:188,0,156 2 27552340 . G A NON_SYNONYMOUS_CODING GTF3C2 MODERATE|MISSENSE|Cgg/Tgg|R595W|911|GTF3C2|protein_coding|CODING|ENST00000264720|exon_2_27552246_27552390 . 0/1:99:255,0,255 . . 2 27552340 . G A NON_SYNONYMOUS_CODING GTF3C2 MODERATE|MISSENSE|Cgg/Tgg|R595W|911|GTF3C2|protein_coding|CODING|ENST00000359541|exon_2_27552246_27552390 . 0/1:99:255,0,255 . . 2 27682262 rs142409945 A C NON_SYNONYMOUS_CODING IFT172 MODERATE|MISSENSE|Tcc/Gcc|S924A|1749|IFT172|protein_coding|CODING|ENST00000260570|exon_2_27682245_27682389 . . . 0/1:99:255,0,211 2 28561330 rs148732163 A G NON_SYNONYMOUS_CODING BRE MODERATE|MISSENSE|Acc/Gcc|T270A|285|BRE|protein_coding|CODING|ENST00000379623|exon_2_28561317_28561765 . . . 0/1:99:237,0,198 2 28561330 rs148732163 A G NON_SYNONYMOUS_CODING BRE MODERATE|MISSENSE|Acc/Gcc|T368A|383|BRE|protein_coding|CODING|ENST00000342045|exon_2_28561317_28561768 . . . 0/1:99:237,0,198 2 28561330 rs148732163 A G NON_SYNONYMOUS_CODING BRE MODERATE|MISSENSE|Acc/Gcc|T368A|383|BRE|protein_coding|CODING|ENST00000379624|exon_2_28561317_28561768 . . . 0/1:99:237,0,198 2 29225504 rs72786179 T C NON_SYNONYMOUS_CODING FAM179A MODERATE|MISSENSE|cTc/cCc|L177P|1019|FAM179A|protein_coding|CODING|ENST00000379558|exon_2_29225402_29225613 . 0/1:99:244,0,252 0/1:99:152,0,188 . 2 29225504 rs72786179 T C NON_SYNONYMOUS_CODING FAM179A MODERATE|MISSENSE|cTc/cCc|L177P|964|FAM179A|protein_coding|CODING|ENST00000403861|exon_2_29225402_29225613 . 0/1:99:244,0,252 0/1:99:152,0,188 . 2 29256374 rs60403047 C T NON_SYNONYMOUS_CODING FAM179A MODERATE|MISSENSE|Cgc/Tgc|R159C|161|FAM179A|protein_coding|CODING|ENST00000401723|exon_2_29256335_29256386 . . 0/1:99:206,0,235 0/1:99:252,0,248 2 29256374 rs60403047 C T NON_SYNONYMOUS_CODING FAM179A MODERATE|MISSENSE|Cgc/Tgc|R669C|964|FAM179A|protein_coding|CODING|ENST00000403861|exon_2_29256335_29256429 . . 0/1:99:206,0,235 0/1:99:252,0,248 2 29256374 rs60403047 C T NON_SYNONYMOUS_CODING FAM179A MODERATE|MISSENSE|Cgc/Tgc|R724C|1019|FAM179A|protein_coding|CODING|ENST00000379558|exon_2_29256335_29256429 . . 0/1:99:206,0,235 0/1:99:252,0,248 2 29274706 rs141739902 C T NON_SYNONYMOUS_CODING FAM179A MODERATE|MISSENSE|gCc/gTc|A881V|964|FAM179A|protein_coding|CODING|ENST00000403861|exon_2_29274622_29275094 . . . 0/1:99:166,0,178 2 29274706 rs141739902 C T NON_SYNONYMOUS_CODING FAM179A MODERATE|MISSENSE|gCc/gTc|A936V|1019|FAM179A|protein_coding|CODING|ENST00000379558|exon_2_29274622_29275096 . . . 0/1:99:166,0,178 2 29274730 rs7577483 G T NON_SYNONYMOUS_CODING FAM179A MODERATE|MISSENSE|gGa/gTa|G889V|964|FAM179A|protein_coding|CODING|ENST00000403861|exon_2_29274622_29275094 . . 0/1:99:214,0,255 0/1:99:186,0,153 2 29274730 rs7577483 G T NON_SYNONYMOUS_CODING FAM179A MODERATE|MISSENSE|gGa/gTa|G944V|1019|FAM179A|protein_coding|CODING|ENST00000379558|exon_2_29274622_29275096 . . 0/1:99:214,0,255 0/1:99:186,0,153 2 29294757 . A T NON_SYNONYMOUS_CODING C2orf71 MODERATE|MISSENSE|Tct/Act|S791T|1288|C2orf71|protein_coding|CODING|ENST00000331664|exon_2_29293460_29297127 0/1:99:213,0,255 . . . 2 29295186 rs75276619 C T NON_SYNONYMOUS_CODING C2orf71 MODERATE|MISSENSE|Gcc/Acc|A648T|1288|C2orf71|protein_coding|CODING|ENST00000331664|exon_2_29293460_29297127 . . 0/1:99:255,0,243 . 2 29416712 . C A NON_SYNONYMOUS_CODING ALK MODERATE|MISSENSE|aGg/aTg|R1414M|1620|ALK|protein_coding|CODING|ENST00000389048|exon_2_29415640_29416788 0/1:99:222,0,185 . . . 2 29497967 rs35228363 G A NON_SYNONYMOUS_CODING ALK MODERATE|MISSENSE|aCa/aTa|T680I|1620|ALK|protein_coding|CODING|ENST00000389048|exon_2_29497965_29498093 . . 0/1:99:255,0,255 . 2 31588936 rs141050887 T A NON_SYNONYMOUS_CODING XDH MODERATE|MISSENSE|Att/Ttt|I788F|1333|XDH|protein_coding|CODING|ENST00000379416|exon_2_31588842_31588975 . . 0/1:99:255,0,219 . 2 37105041 rs77353404 G A NON_SYNONYMOUS_CODING STRN MODERATE|MISSENSE|aCt/aTt|T390I|731|STRN|protein_coding|CODING|ENST00000379213|exon_2_37105034_37105170 . 0/1:99:255,0,255 . . 2 37105041 rs77353404 G A NON_SYNONYMOUS_CODING STRN MODERATE|MISSENSE|aCt/aTt|T414I|755|STRN|protein_coding|CODING|ENST00000538092|exon_2_37105034_37105170 . 0/1:99:255,0,255 . . 2 37105041 rs77353404 G A NON_SYNONYMOUS_CODING STRN MODERATE|MISSENSE|aCt/aTt|T439I|780|STRN|protein_coding|CODING|ENST00000263918|exon_2_37105034_37105170 . 0/1:99:255,0,255 . . 2 37232879 rs2302657 A C NON_SYNONYMOUS_CODING HEATR5B MODERATE|MISSENSE|Tcc/Gcc|S1601A|1982|HEATR5B|protein_coding|CODING|ENST00000354531|exon_2_37232775_37232902 0/1:99:248,0,255 . . . 2 37232879 rs2302657 A C NON_SYNONYMOUS_CODING HEATR5B MODERATE|MISSENSE|Tcc/Gcc|S1601A|2071|HEATR5B|protein_coding|CODING|ENST00000233099|exon_2_37232775_37232902 0/1:99:248,0,255 . . . 2 37599963 rs4670696 A C NON_SYNONYMOUS_CODING QPCT MODERATE|MISSENSE|cAt/cCt|H311P|312|QPCT|protein_coding|CODING|ENST00000537448|exon_2_37599825_37600464 . . 0/1:99:255,0,255 . 2 37599963 rs4670696 A C NON_SYNONYMOUS_CODING QPCT MODERATE|MISSENSE|cAt/cCt|H360P|361|QPCT|protein_coding|CODING|ENST00000338415|exon_2_37599825_37600465 . . 0/1:99:255,0,255 . 2 43451957 rs149290349 G A NON_SYNONYMOUS_CODING ZFP36L2 MODERATE|MISSENSE|gCt/gTt|A329V|494|ZFP36L2|protein_coding|CODING|ENST00000282388|exon_2_43449541_43452891 . . 0/1:78:151,0,75 . 2 43519977 rs35720761 C T NON_SYNONYMOUS_CODING THADA MODERATE|MISSENSE|tGc/tAc|C1286Y|1634|THADA|protein_coding|CODING|ENST00000415080|exon_2_43519973_43520352 . 0/1:99:255,0,255 0/1:99:255,0,255 . 2 43519977 rs35720761 C T NON_SYNONYMOUS_CODING THADA MODERATE|MISSENSE|tGc/tAc|C1532Y|1880|THADA|protein_coding|CODING|ENST00000356975|exon_2_43519973_43520352 . 0/1:99:255,0,255 0/1:99:255,0,255 . 2 43519977 rs35720761 C T NON_SYNONYMOUS_CODING THADA MODERATE|MISSENSE|tGc/tAc|C1605Y|1953|THADA|protein_coding|CODING|ENST00000405006|exon_2_43519973_43520352 . 0/1:99:255,0,255 0/1:99:255,0,255 . 2 43519977 rs35720761 C T NON_SYNONYMOUS_CODING THADA MODERATE|MISSENSE|tGc/tAc|C1605Y|1953|THADA|protein_coding|CODING|ENST00000405975|exon_2_43519973_43520352 . 0/1:99:255,0,255 0/1:99:255,0,255 . 2 43732823 rs7578597 T C NON_SYNONYMOUS_CODING THADA MODERATE|MISSENSE|Aca/Gca|T1187A|1953|THADA|protein_coding|CODING|ENST00000405006|exon_2_43732761_43732874 . 0/1:99:255,0,248 0/1:99:255,0,255 . 2 43732823 rs7578597 T C NON_SYNONYMOUS_CODING THADA MODERATE|MISSENSE|Aca/Gca|T1187A|1953|THADA|protein_coding|CODING|ENST00000405975|exon_2_43732761_43732874 . 0/1:99:255,0,248 0/1:99:255,0,255 . 2 43732823 rs7578597 T C NON_SYNONYMOUS_CODING THADA MODERATE|MISSENSE|Aca/Gca|T1188A|1880|THADA|protein_coding|CODING|ENST00000356975|exon_2_43732761_43732874 . 0/1:99:255,0,248 0/1:99:255,0,255 . 2 43732823 rs7578597 T C NON_SYNONYMOUS_CODING THADA MODERATE|MISSENSE|Aca/Gca|T897A|1097|THADA|protein_coding|CODING|ENST00000330266|exon_2_43732761_43732874 . 0/1:99:255,0,248 0/1:99:255,0,255 . 2 43732823 rs7578597 T C NON_SYNONYMOUS_CODING THADA MODERATE|MISSENSE|Aca/Gca|T897A|1634|THADA|protein_coding|CODING|ENST00000415080|exon_2_43732761_43732874 . 0/1:99:255,0,248 0/1:99:255,0,255 . 2 44021826 rs9309107 T A NON_SYNONYMOUS_CODING DYNC2LI1 MODERATE|MISSENSE|tTt/tAt|F184Y|201|DYNC2LI1|protein_coding|CODING|ENST00000406852|exon_2_44021596_44022318 . 0/1:99:255,0,255 0/1:99:255,0,255 1/1:99:255,105,0 2 44028013 rs11556157 A T NON_SYNONYMOUS_CODING DYNC2LI1 MODERATE|MISSENSE|Ata/Tta|I104L|225|DYNC2LI1|protein_coding|CODING|ENST00000443170|exon_2_44027980_44028056 . 0/1:99:255,0,235 0/1:99:255,0,255 1/1:99:255,114,0 2 44028013 rs11556157 A T NON_SYNONYMOUS_CODING DYNC2LI1 MODERATE|MISSENSE|Ata/Tta|I230L|351|DYNC2LI1|protein_coding|CODING|ENST00000260605|exon_2_44027980_44028056 . 0/1:99:255,0,235 0/1:99:255,0,255 1/1:99:255,114,0 2 44040401 rs6720173 G C NON_SYNONYMOUS_CODING ABCG5 MODERATE|MISSENSE|Caa/Gaa|Q209E|256|ABCG5|protein_coding|CODING|ENST00000543989|exon_2_44039699_44040448 . . 0/1:99:255,0,255 1/1:99:255,75,0 2 44040401 rs6720173 G C NON_SYNONYMOUS_CODING ABCG5 MODERATE|MISSENSE|Caa/Gaa|Q433E|480|ABCG5|protein_coding|CODING|ENST00000405322|exon_2_44039699_44040448 . . 0/1:99:255,0,255 1/1:99:255,75,0 2 44040401 rs6720173 G C NON_SYNONYMOUS_CODING ABCG5 MODERATE|MISSENSE|Caa/Gaa|Q604E|651|ABCG5|protein_coding|CODING|ENST00000260645|exon_2_44039611_44040448 . . 0/1:99:255,0,255 1/1:99:255,75,0 2 45640334 rs3755072 T C NON_SYNONYMOUS_CODING SRBD1 MODERATE|MISSENSE|aAa/aGa|K330R|514|SRBD1|protein_coding|CODING|ENST00000535761|exon_2_45640253_45640432 . 0/1:99:255,0,255 . . 2 45640334 rs3755072 T C NON_SYNONYMOUS_CODING SRBD1 MODERATE|MISSENSE|aAa/aGa|K811R|995|SRBD1|protein_coding|CODING|ENST00000263736|exon_2_45640253_45640432 . 0/1:99:255,0,255 . . 2 46313438 rs74990336 G A NON_SYNONYMOUS_CODING PRKCE MODERATE|MISSENSE|cGg/cAg|R510Q|737|PRKCE|protein_coding|CODING|ENST00000306156|exon_2_46313347_46313501 . . . 0/1:99:255,0,218 2 46842119 rs113562214 A G NON_SYNONYMOUS_CODING PIGF MODERATE|MISSENSE|gTg/gCg|V62A|206|PIGF|protein_coding|CODING|ENST00000306465|exon_2_46842076_46842324 . . . 0/1:99:255,0,255 2 46842119 rs113562214 A G NON_SYNONYMOUS_CODING PIGF MODERATE|MISSENSE|gTg/gCg|V62A|219|PIGF|protein_coding|CODING|ENST00000281382|exon_2_46842076_46842324 . . . 0/1:99:255,0,255 2 47184066 rs61746139 G A NON_SYNONYMOUS_CODING TTC7A MODERATE|MISSENSE|cGg/cAg|R112Q|824|TTC7A|protein_coding|CODING|ENST00000409245|exon_2_47183978_47184146 0/1:99:229,0,255 . . . 2 47184066 rs61746139 G A NON_SYNONYMOUS_CODING TTC7A MODERATE|MISSENSE|cGg/cAg|R146Q|858|TTC7A|protein_coding|CODING|ENST00000319190|exon_2_47183978_47184146 0/1:99:229,0,255 . . . 2 47184066 rs61746139 G A NON_SYNONYMOUS_CODING TTC7A MODERATE|MISSENSE|cGg/cAg|R146Q|882|TTC7A|protein_coding|CODING|ENST00000394850|exon_2_47183978_47184146 0/1:99:229,0,255 . . . 2 47378431 rs144624578 C T NON_SYNONYMOUS_CODING C2orf61 MODERATE|MISSENSE|cGg/cAg|R122Q|177|C2orf61|protein_coding|CODING|ENST00000294947|exon_2_47378397_47378654 . . 0/1:99:210,0,255 . 2 47378431 rs144624578 C T NON_SYNONYMOUS_CODING C2orf61 MODERATE|MISSENSE|cGg/cAg|R122Q|248|C2orf61|protein_coding|CODING|ENST00000445927|exon_2_47378397_47378654 . . 0/1:99:210,0,255 . 2 47739533 rs116117580 G A NON_SYNONYMOUS_CODING MSH2 MODERATE|MISSENSE|cGg/cAg|R909Q|921|MSH2|protein_coding|CODING|ENST00000406134|exon_2_47739442_47740373 . . . 0/1:99:246,0,248 2 48027755 rs2020912 T C NON_SYNONYMOUS_CODING MSH6 MODERATE|MISSENSE|gTt/gCt|V576A|1058|MSH6|protein_coding|CODING|ENST00000538136|exon_2_48025754_48028294 . 0/1:99:255,0,255 . . 2 48027755 rs2020912 T C NON_SYNONYMOUS_CODING MSH6 MODERATE|MISSENSE|gTt/gCt|V748A|1230|MSH6|protein_coding|CODING|ENST00000540021|exon_2_48025750_48028294 . 0/1:99:255,0,255 . . 2 48027755 rs2020912 T C NON_SYNONYMOUS_CODING MSH6 MODERATE|MISSENSE|gTt/gCt|V876A|1066|MSH6|protein_coding|CODING|ENST00000544857|exon_2_48025750_48028329 . 0/1:99:255,0,255 . . 2 48027755 rs2020912 T C NON_SYNONYMOUS_CODING MSH6 MODERATE|MISSENSE|gTt/gCt|V878A|1360|MSH6|protein_coding|CODING|ENST00000234420|exon_2_48025750_48028294 . 0/1:99:255,0,255 . . 2 48960032 rs10495960 G A NON_SYNONYMOUS_CODING GTF2A1L MODERATE|MISSENSE|Gca/Aca|A93T|102|GTF2A1L|protein_coding|CODING|ENST00000508440|exon_2_48960032_48960287 0/1:99:255,0,255 0/1:99:255,0,255 0/1:99:230,0,255 0/1:99:255,0,255 2 53955982 rs1127767 T A NON_SYNONYMOUS_CODING ASB3 MODERATE|MISSENSE|gaA/gaT|E157D|518|ASB3|protein_coding|CODING|ENST00000263634|exon_2_53955849_53955984 . . 1/1:99:255,120,0 . 2 53955982 rs1127767 T A NON_SYNONYMOUS_CODING ASB3 MODERATE|MISSENSE|gaA/gaT|E192D|553|ASB3|protein_coding|CODING|ENST00000406625|exon_2_53955849_53955984 . . 1/1:99:255,120,0 . 2 53955982 rs1127767 T A NON_SYNONYMOUS_CODING ASB3 MODERATE|MISSENSE|gaA/gaT|E195D|556|ASB3|protein_coding|CODING|ENST00000352846|exon_2_53955849_53955984 . . 1/1:99:255,120,0 . 2 53955982 rs1127767 T A NON_SYNONYMOUS_CODING ASB3 MODERATE|MISSENSE|gaA/gaT|E84D|445|ASB3|protein_coding|CODING|ENST00000394717|exon_2_53955849_53955984 . . 1/1:99:255,120,0 . 2 53955982 rs1127767 T A NON_SYNONYMOUS_CODING ASB3 MODERATE|MISSENSE|gaA/gaT|E84D|445|ASB3|protein_coding|CODING|ENST00000406687|exon_2_53955849_53955984 . . 1/1:99:255,120,0 . 2 54035508 rs2287345 G C NON_SYNONYMOUS_CODING ERLEC1 MODERATE|MISSENSE|Gtg/Ctg|V318L|457|ERLEC1|protein_coding|CODING|ENST00000405123|exon_2_54035436_54035597 . . . 0/1:99:255,0,255 2 54035508 rs2287345 G C NON_SYNONYMOUS_CODING ERLEC1 MODERATE|MISSENSE|Gtg/Ctg|V318L|483|ERLEC1|protein_coding|CODING|ENST00000185150|exon_2_54035436_54035597 . . . 0/1:99:255,0,255 2 54197829 rs78645734 C A NON_SYNONYMOUS_CODING PSME4 MODERATE|MISSENSE|gaG/gaT|E31D|1843|PSME4|protein_coding|CODING|ENST00000404125|exon_2_54197680_54197977 . . 0/1:99:114,0,98 . 2 54531862 . C T NON_SYNONYMOUS_CODING ACYP2 MODERATE|MISSENSE|Cgc/Tgc|R75C|99|ACYP2|protein_coding|CODING|ENST00000394666|exon_2_54531825_54532437 . . . 0/1:99:223,0,255 2 54562012 rs55714450 C A NON_SYNONYMOUS_CODING C2orf73 MODERATE|MISSENSE|Cac/Aac|H29N|287|C2orf73|protein_coding|CODING|ENST00000398634|exon_2_54561954_54562161 0/1:99:255,0,255 . . 0/1:99:223,0,255 2 54562012 rs55714450 C A NON_SYNONYMOUS_CODING C2orf73 MODERATE|MISSENSE|Cac/Aac|H35N|222|C2orf73|protein_coding|CODING|ENST00000486488|exon_2_54561954_54562161 0/1:99:255,0,255 . . 0/1:99:223,0,255 2 55254165 rs11677099 T A NON_SYNONYMOUS_CODING RTN4 MODERATE|MISSENSE|gAt/gTt|D125V|960|RTN4|protein_coding|CODING|ENST00000354474|exon_2_55252222_55254363 0/1:99:255,0,255 . . . 2 55254165 rs11677099 T A NON_SYNONYMOUS_CODING RTN4 MODERATE|MISSENSE|gAt/gTt|D151V|986|RTN4|protein_coding|CODING|ENST00000357376|exon_2_55252222_55254621 0/1:99:255,0,255 . . . 2 55254165 rs11677099 T A NON_SYNONYMOUS_CODING RTN4 MODERATE|MISSENSE|gAt/gTt|D151V|986|RTN4|protein_coding|CODING|ENST00000394611|exon_2_55252222_55254621 0/1:99:255,0,255 . . . 2 55254165 rs11677099 T A NON_SYNONYMOUS_CODING RTN4 MODERATE|MISSENSE|gAt/gTt|D151V|986|RTN4|protein_coding|CODING|ENST00000404909|exon_2_55252222_55254621 0/1:99:255,0,255 . . . 2 55254165 rs11677099 T A NON_SYNONYMOUS_CODING RTN4 MODERATE|MISSENSE|gAt/gTt|D151V|986|RTN4|protein_coding|CODING|ENST00000405240|exon_2_55252222_55254621 0/1:99:255,0,255 . . . 2 55254165 rs11677099 T A NON_SYNONYMOUS_CODING RTN4 MODERATE|MISSENSE|gAt/gTt|D357V|1192|RTN4|protein_coding|CODING|ENST00000337526|exon_2_55252222_55254621 0/1:99:255,0,255 . . . 2 55445067 . A G NON_SYNONYMOUS_CODING C2orf63 MODERATE|MISSENSE|aTt/aCt|I82T|586|C2orf63|protein_coding|CODING|ENST00000401408|exon_2_55444947_55445134 0/1:99:255,0,255 . . . 2 55445067 . A G NON_SYNONYMOUS_CODING C2orf63 MODERATE|MISSENSE|aTt/aCt|I82T|586|C2orf63|protein_coding|CODING|ENST00000407122|exon_2_55444947_55445134 0/1:99:255,0,255 . . . 2 55756042 rs191927946 A C NON_SYNONYMOUS_CODING CCDC104 MODERATE|MISSENSE|gAa/gCa|E104A|218|CCDC104|protein_coding|CODING|ENST00000406691|exon_2_55756014_55756128 . . 0/1:99:215,0,255 . 2 55756042 rs191927946 A C NON_SYNONYMOUS_CODING CCDC104 MODERATE|MISSENSE|gAa/gCa|E104A|223|CCDC104|protein_coding|CODING|ENST00000403007|exon_2_55756014_55756128 . . 0/1:99:215,0,255 . 2 55756042 rs191927946 A C NON_SYNONYMOUS_CODING CCDC104 MODERATE|MISSENSE|gAa/gCa|E104A|313|CCDC104|protein_coding|CODING|ENST00000407816|exon_2_55756014_55756128 . . 0/1:99:215,0,255 . 2 55756042 rs191927946 A C NON_SYNONYMOUS_CODING CCDC104 MODERATE|MISSENSE|gAa/gCa|E104A|342|CCDC104|protein_coding|CODING|ENST00000349456|exon_2_55756014_55756128 . . 0/1:99:215,0,255 . 2 55756042 rs191927946 A C NON_SYNONYMOUS_CODING CCDC104 MODERATE|MISSENSE|gAa/gCa|E129A|367|CCDC104|protein_coding|CODING|ENST00000339012|exon_2_55756014_55756128 . . 0/1:99:215,0,255 . 2 55771169 rs1045920 A T NON_SYNONYMOUS_CODING CCDC104 MODERATE|MISSENSE|Att/Ttt|I217F|313|CCDC104|protein_coding|CODING|ENST00000407816|exon_2_55771161_55771210 . . . 0/1:99:249,0,255 2 55771169 rs1045920 A T NON_SYNONYMOUS_CODING CCDC104 MODERATE|MISSENSE|Att/Ttt|I246F|342|CCDC104|protein_coding|CODING|ENST00000349456|exon_2_55771074_55771210 . . . 0/1:99:249,0,255 2 55771169 rs1045920 A T NON_SYNONYMOUS_CODING CCDC104 MODERATE|MISSENSE|Att/Ttt|I271F|367|CCDC104|protein_coding|CODING|ENST00000339012|exon_2_55771074_55771210 . . . 0/1:99:249,0,255 2 55812201 rs61762670 G C NON_SYNONYMOUS_CODING SMEK2 MODERATE|MISSENSE|Cag/Gag|Q407E|764|SMEK2|protein_coding|CODING|ENST00000272313|exon_2_55812187_55812303 . . 0/1:99:221,0,248 . 2 55812201 rs61762670 G C NON_SYNONYMOUS_CODING SMEK2 MODERATE|MISSENSE|Cag/Gag|Q407E|817|SMEK2|protein_coding|CODING|ENST00000407823|exon_2_55812187_55812303 . . 0/1:99:221,0,248 . 2 55812201 rs61762670 G C NON_SYNONYMOUS_CODING SMEK2 MODERATE|MISSENSE|Cag/Gag|Q407E|849|SMEK2|protein_coding|CODING|ENST00000345102|exon_2_55812187_55812303 . . 0/1:99:221,0,248 . 2 55872538 rs7594497 T C NON_SYNONYMOUS_CODING PNPT1 MODERATE|MISSENSE|Aac/Gac|N590D|783|PNPT1|protein_coding|CODING|ENST00000447944|exon_2_55872484_55872567 . . . 0/1:99:250,0,239 2 62069358 rs11125895 T C NON_SYNONYMOUS_CODING FAM161A MODERATE|MISSENSE|atA/atG|I107M|660|FAM161A|protein_coding|CODING|ENST00000405894|exon_2_62069257_62069495 0/1:99:255,0,255 0/1:99:255,0,255 . . 2 62069358 rs11125895 T C NON_SYNONYMOUS_CODING FAM161A MODERATE|MISSENSE|atA/atG|I107M|716|FAM161A|protein_coding|CODING|ENST00000404929|exon_2_62069257_62069495 0/1:99:255,0,255 0/1:99:255,0,255 . . 2 62099260 rs146765948 C T NON_SYNONYMOUS_CODING CCT4 MODERATE|MISSENSE|cGg/cAg|R333Q|389|CCT4|protein_coding|CODING|ENST00000544185|exon_2_62099217_62099451 0/1:99:255,0,255 . . . 2 62099260 rs146765948 C T NON_SYNONYMOUS_CODING CCT4 MODERATE|MISSENSE|cGg/cAg|R427Q|483|CCT4|protein_coding|CODING|ENST00000538252|exon_2_62099217_62099451 0/1:99:255,0,255 . . . 2 62099260 rs146765948 C T NON_SYNONYMOUS_CODING CCT4 MODERATE|MISSENSE|cGg/cAg|R453Q|509|CCT4|protein_coding|CODING|ENST00000544079|exon_2_62099217_62099451 0/1:99:255,0,255 . . . 2 62099260 rs146765948 C T NON_SYNONYMOUS_CODING CCT4 MODERATE|MISSENSE|cGg/cAg|R483Q|539|CCT4|protein_coding|CODING|ENST00000394440|exon_2_62099217_62099451 0/1:99:255,0,255 . . . 2 63457004 rs34000295 ATGC A CODON_DELETION WDPCP MODERATE||gca/-|A605-|618|WDPCP|protein_coding|CODING|ENST00000409562|exon_2_63455523_63457007 0/1:99:141,0,255 . . . 2 65248137 rs113579377 G C NON_SYNONYMOUS_CODING SLC1A4 MODERATE|MISSENSE|Gag/Cag|E188Q|234|SLC1A4|protein_coding|CODING|ENST00000531327|exon_2_65248046_65248528 . 0/1:99:240,0,255 . . 2 65248137 rs113579377 G C NON_SYNONYMOUS_CODING SLC1A4 MODERATE|MISSENSE|Gag/Cag|E406Q|452|SLC1A4|protein_coding|CODING|ENST00000448784|exon_2_65248046_65249169 . 0/1:99:240,0,255 . . 2 65248137 rs113579377 G C NON_SYNONYMOUS_CODING SLC1A4 MODERATE|MISSENSE|Gag/Cag|E486Q|532|SLC1A4|protein_coding|CODING|ENST00000234256|exon_2_65248046_65250999 . 0/1:99:240,0,255 . . 2 65296657 rs12611491 A G NON_SYNONYMOUS_CODING CEP68 MODERATE|MISSENSE|Agg/Ggg|R27G|620|CEP68|protein_coding|CODING|ENST00000260569|exon_2_65296533_65296935 0/1:99:174,0,219 . . . 2 65296657 rs12611491 A G NON_SYNONYMOUS_CODING CEP68 MODERATE|MISSENSE|Agg/Ggg|R27G|670|CEP68|protein_coding|CODING|ENST00000546106|exon_2_65296533_65296935 0/1:99:174,0,219 . . . 2 65296657 rs12611491 A G NON_SYNONYMOUS_CODING CEP68 MODERATE|MISSENSE|Agg/Ggg|R27G|700|CEP68|protein_coding|CODING|ENST00000545501|exon_2_65296579_65296657 0/1:99:174,0,219 . . . 2 65296657 rs12611491 A G NON_SYNONYMOUS_CODING CEP68 MODERATE|MISSENSE|Agg/Ggg|R27G|757|CEP68|protein_coding|CODING|ENST00000377990|exon_2_65296533_65296935 0/1:99:174,0,219 . . . 2 65298646 . GAACAACAAC GAACAAC CODON_CHANGE_PLUS_CODON_DELETION CEP68 MODERATE||acaact/act|TT129T|700|CEP68|protein_coding|CODING|ENST00000545501|exon_2_65298588_65300114 . 0/1:99:255,0,255 0/1:99:209,0,223 . 2 65298646 . GAACAACAAC GAACAAC CODON_CHANGE_PLUS_CODON_DELETION CEP68 MODERATE||acaact/act|TT141T|620|CEP68|protein_coding|CODING|ENST00000260569|exon_2_65298588_65299703 . 0/1:99:255,0,255 0/1:99:209,0,223 . 2 65298646 . GAACAACAAC GAACAAC CODON_CHANGE_PLUS_CODON_DELETION CEP68 MODERATE||acaact/act|TT141T|670|CEP68|protein_coding|CODING|ENST00000546106|exon_2_65298588_65300114 . 0/1:99:255,0,255 0/1:99:209,0,223 . 2 65298646 . GAACAACAAC GAACAAC CODON_CHANGE_PLUS_CODON_DELETION CEP68 MODERATE||acaact/act|TT141T|757|CEP68|protein_coding|CODING|ENST00000377990|exon_2_65298588_65300114 . 0/1:99:255,0,255 0/1:99:209,0,223 . 2 65299298 rs2723088 C A NON_SYNONYMOUS_CODING CEP68 MODERATE|MISSENSE|aaC/aaA|N344K|700|CEP68|protein_coding|CODING|ENST00000545501|exon_2_65298588_65300114 . 0/1:99:182,0,251 0/1:99:188,0,255 . 2 65299298 rs2723088 C A NON_SYNONYMOUS_CODING CEP68 MODERATE|MISSENSE|aaC/aaA|N356K|620|CEP68|protein_coding|CODING|ENST00000260569|exon_2_65298588_65299703 . 0/1:99:182,0,251 0/1:99:188,0,255 . 2 65299298 rs2723088 C A NON_SYNONYMOUS_CODING CEP68 MODERATE|MISSENSE|aaC/aaA|N356K|670|CEP68|protein_coding|CODING|ENST00000546106|exon_2_65298588_65300114 . 0/1:99:182,0,251 0/1:99:188,0,255 . 2 65299298 rs2723088 C A NON_SYNONYMOUS_CODING CEP68 MODERATE|MISSENSE|aaC/aaA|N356K|757|CEP68|protein_coding|CODING|ENST00000377990|exon_2_65298588_65300114 . 0/1:99:182,0,251 0/1:99:188,0,255 . 2 65299300 rs2723089 G C NON_SYNONYMOUS_CODING CEP68 MODERATE|MISSENSE|tGc/tCc|C345S|700|CEP68|protein_coding|CODING|ENST00000545501|exon_2_65298588_65300114 . 0/1:99:201,0,238 0/1:99:227,0,255 . 2 65299300 rs2723089 G C NON_SYNONYMOUS_CODING CEP68 MODERATE|MISSENSE|tGc/tCc|C357S|620|CEP68|protein_coding|CODING|ENST00000260569|exon_2_65298588_65299703 . 0/1:99:201,0,238 0/1:99:227,0,255 . 2 65299300 rs2723089 G C NON_SYNONYMOUS_CODING CEP68 MODERATE|MISSENSE|tGc/tCc|C357S|670|CEP68|protein_coding|CODING|ENST00000546106|exon_2_65298588_65300114 . 0/1:99:201,0,238 0/1:99:227,0,255 . 2 65299300 rs2723089 G C NON_SYNONYMOUS_CODING CEP68 MODERATE|MISSENSE|tGc/tCc|C357S|757|CEP68|protein_coding|CODING|ENST00000377990|exon_2_65298588_65300114 . 0/1:99:201,0,238 0/1:99:227,0,255 . 2 68765134 . AAAGAA AAA CODON_CHANGE_PLUS_CODON_DELETION APLF MODERATE||agaaca/aca|RT313T|511|APLF|protein_coding|CODING|ENST00000303795|exon_2_68765004_68765359 . . 0/1:99:255,0,255 . 2 68765205 rs13404469 C T NON_SYNONYMOUS_CODING APLF MODERATE|MISSENSE|Ctt/Ttt|L336F|511|APLF|protein_coding|CODING|ENST00000303795|exon_2_68765004_68765359 0/1:99:255,0,255 . . . 2 69049808 rs141977542 C T NON_SYNONYMOUS_CODING ARHGAP25 MODERATE|MISSENSE|Cct/Tct|P206S|339|ARHGAP25|protein_coding|CODING|ENST00000479844|exon_2_69049472_69050004 . . . 0/1:99:249,0,255 2 69049808 rs141977542 C T NON_SYNONYMOUS_CODING ARHGAP25 MODERATE|MISSENSE|Cct/Tct|P473S|606|ARHGAP25|protein_coding|CODING|ENST00000467265|exon_2_69049472_69050004 . . . 0/1:99:249,0,255 2 69049808 rs141977542 C T NON_SYNONYMOUS_CODING ARHGAP25 MODERATE|MISSENSE|Cct/Tct|P497S|630|ARHGAP25|protein_coding|CODING|ENST00000543533|exon_2_69049472_69050004 . . . 0/1:99:249,0,255 2 69049808 rs141977542 C T NON_SYNONYMOUS_CODING ARHGAP25 MODERATE|MISSENSE|Cct/Tct|P505S|638|ARHGAP25|protein_coding|CODING|ENST00000409030|exon_2_69049472_69050004 . . . 0/1:99:249,0,255 2 69049808 rs141977542 C T NON_SYNONYMOUS_CODING ARHGAP25 MODERATE|MISSENSE|Cct/Tct|P506S|591|ARHGAP25|protein_coding|CODING|ENST00000482106|exon_2_69049472_69050004 . . . 0/1:99:249,0,255 2 69049808 rs141977542 C T NON_SYNONYMOUS_CODING ARHGAP25 MODERATE|MISSENSE|Cct/Tct|P506S|639|ARHGAP25|protein_coding|CODING|ENST00000409220|exon_2_69049472_69050004 . . . 0/1:99:249,0,255 2 69049808 rs141977542 C T NON_SYNONYMOUS_CODING ARHGAP25 MODERATE|MISSENSE|Cct/Tct|P512S|645|ARHGAP25|protein_coding|CODING|ENST00000295381|exon_2_69049472_69050004 . . . 0/1:99:249,0,255 2 69049808 rs141977542 C T NON_SYNONYMOUS_CODING ARHGAP25 MODERATE|MISSENSE|Cct/Tct|P513S|646|ARHGAP25|protein_coding|CODING|ENST00000409202|exon_2_69049472_69050004 . . . 0/1:99:249,0,255 2 69650730 rs74637005 G A NON_SYNONYMOUS_CODING NFU1 MODERATE|MISSENSE|Cgc/Tgc|R72C|230|NFU1|protein_coding|CODING|ENST00000303698|exon_2_69650714_69650849 . . 0/1:99:163,0,212 . 2 69650730 rs74637005 G A NON_SYNONYMOUS_CODING NFU1 MODERATE|MISSENSE|Cgc/Tgc|R96C|254|NFU1|protein_coding|CODING|ENST00000410022|exon_2_69650714_69650849 . . 0/1:99:163,0,212 . 2 69736561 rs56038532 A G NON_SYNONYMOUS_CODING AAK1 MODERATE|MISSENSE|gTt/gCt|V603A|674|AAK1|protein_coding|CODING|ENST00000409068|exon_2_69736383_69736592 . . 0/1:99:223,0,202 . 2 69736561 rs56038532 A G NON_SYNONYMOUS_CODING AAK1 MODERATE|MISSENSE|gTt/gCt|V603A|863|AAK1|protein_coding|CODING|ENST00000406297|exon_2_69736363_69736592 . . 0/1:99:223,0,202 . 2 69736561 rs56038532 A G NON_SYNONYMOUS_CODING AAK1 MODERATE|MISSENSE|gTt/gCt|V603A|961|AAK1|protein_coding|CODING|ENST00000409085|exon_2_69736363_69736592 . . 0/1:99:223,0,202 . 2 70037739 rs2228202 C G NON_SYNONYMOUS_CODING ANXA4 MODERATE|MISSENSE|agC/agG|S115R|299|ANXA4|protein_coding|CODING|ENST00000409920|exon_2_70037726_70037805 0/1:99:255,0,181 . . . 2 70037739 rs2228202 C G NON_SYNONYMOUS_CODING ANXA4 MODERATE|MISSENSE|agC/agG|S137R|321|ANXA4|protein_coding|CODING|ENST00000394295|exon_2_70037726_70037805 0/1:99:255,0,181 . . . 2 70037739 rs2228202 C G NON_SYNONYMOUS_CODING ANXA4 MODERATE|MISSENSE|agC/agG|S53R|237|ANXA4|protein_coding|CODING|ENST00000536030|exon_2_70037726_70037805 0/1:99:255,0,181 . . . 2 70441562 rs115611153 T C NON_SYNONYMOUS_CODING TIA1 MODERATE|MISSENSE|cAa/cGa|Q307R|375|TIA1|protein_coding|CODING|ENST00000415783|exon_2_70441481_70441626 . . . 0/1:99:235,0,255 2 70441562 rs115611153 T C NON_SYNONYMOUS_CODING TIA1 MODERATE|MISSENSE|cAa/cGa|Q317R|385|TIA1|protein_coding|CODING|ENST00000282574|exon_2_70441481_70441623 . . . 0/1:99:235,0,255 2 70441562 rs115611153 T C NON_SYNONYMOUS_CODING TIA1 MODERATE|MISSENSE|cAa/cGa|Q318R|386|TIA1|protein_coding|CODING|ENST00000433529|exon_2_70441481_70441626 . . . 0/1:99:235,0,255 2 70441562 rs115611153 T C NON_SYNONYMOUS_CODING TIA1 MODERATE|MISSENSE|cAa/cGa|Q395R|463|TIA1|protein_coding|CODING|ENST00000477807|exon_2_70441481_70441623 . . . 0/1:99:235,0,255 2 70441562 rs115611153 T C NON_SYNONYMOUS_CODING TIA1 MODERATE|MISSENSE|cAa/cGa|Q89R|113|TIA1|protein_coding|CODING|ENST00000454815|exon_2_70441484_70441626 . . . 0/1:99:235,0,255 2 71058878 rs200837270 A G NON_SYNONYMOUS_CODING CD207 MODERATE|MISSENSE|Tgg/Cgg|W264R|328|CD207|protein_coding|CODING|ENST00000410009|exon_2_71058832_71058950 . 0/1:99:242,0,244 . . 2 71187104 rs114234874 G A NON_SYNONYMOUS_CODING ATP6V1B1 MODERATE|MISSENSE|Gag/Aag|E136K|488|ATP6V1B1|protein_coding|CODING|ENST00000483246|exon_2_71187069_71187208 0/1:99:235,0,195 . . . 2 71187104 rs114234874 G A NON_SYNONYMOUS_CODING ATP6V1B1 MODERATE|MISSENSE|Gag/Aag|E161K|496|ATP6V1B1|protein_coding|CODING|ENST00000412314|exon_2_71187069_71187208 0/1:99:235,0,195 . . . 2 71187104 rs114234874 G A NON_SYNONYMOUS_CODING ATP6V1B1 MODERATE|MISSENSE|Gag/Aag|E161K|513|ATP6V1B1|protein_coding|CODING|ENST00000234396|exon_2_71187069_71187208 0/1:99:235,0,195 . . . 2 71187104 rs114234874 G A NON_SYNONYMOUS_CODING ATP6V1B1 MODERATE|MISSENSE|Gag/Aag|E178K|248|ATP6V1B1|protein_coding|CODING|ENST00000454446|exon_2_71187069_71187208 0/1:99:235,0,195 . . . 2 71187104 rs114234874 G A NON_SYNONYMOUS_CODING ATP6V1B1 MODERATE|MISSENSE|Gag/Aag|E41K|73|ATP6V1B1|protein_coding|CODING|ENST00000432098|exon_2_71187069_71187207 0/1:99:235,0,195 . . . 2 71212129 rs3796100 A T NON_SYNONYMOUS_CODING ANKRD53 MODERATE|MISSENSE|cAc/cTc|H397L|496|ANKRD53|protein_coding|CODING|ENST00000457410|exon_2_71211741_71212471 . 0/1:99:166,0,213 . . 2 71212129 rs3796100 A T NON_SYNONYMOUS_CODING ANKRD53 MODERATE|MISSENSE|cAc/cTc|H431L|530|ANKRD53|protein_coding|CODING|ENST00000360589|exon_2_71211741_71212469 . 0/1:99:166,0,213 . . 2 71212405 rs61732279 T C NON_SYNONYMOUS_CODING ANKRD53 MODERATE|MISSENSE|cTg/cCg|L489P|496|ANKRD53|protein_coding|CODING|ENST00000457410|exon_2_71211741_71212471 . 0/1:99:194,0,172 . . 2 71212405 rs61732279 T C NON_SYNONYMOUS_CODING ANKRD53 MODERATE|MISSENSE|cTg/cCg|L523P|530|ANKRD53|protein_coding|CODING|ENST00000360589|exon_2_71211741_71212469 . 0/1:99:194,0,172 . . 2 71351403 rs6748672 C A NON_SYNONYMOUS_CODING MCEE MODERATE|MISSENSE|cGt/cTt|R104L|176|MCEE|protein_coding|CODING|ENST00000244217|exon_2_71351336_71351673 . . . 0/1:99:255,0,255 2 71351403 rs6748672 C A NON_SYNONYMOUS_CODING MCEE MODERATE|MISSENSE|cGt/cTt|R9L|30|MCEE|protein_coding|CODING|ENST00000486135|exon_2_71351336_71351673 . . . 0/1:99:255,0,255 2 71351403 rs6748672 C A NON_SYNONYMOUS_CODING MCEE MODERATE|MISSENSE|cGt/cTt|R9L|30|MCEE|protein_coding|CODING|ENST00000494660|exon_2_71351336_71351673 . . . 0/1:99:255,0,255 2 71360282 rs13010513 G A NON_SYNONYMOUS_CODING MPHOSPH10 MODERATE|MISSENSE|cGt/cAt|R115H|681|MPHOSPH10|protein_coding|CODING|ENST00000244230|exon_2_71360028_71360706 . . . 0/1:99:238,0,255 2 71503874 rs2542538 T C NON_SYNONYMOUS_CODING ZNF638 MODERATE|MISSENSE|Tcg/Ccg|S36P|1024|ZNF638|protein_coding|CODING|ENST00000544512|exon_2_71503743_71503884 . . 0/1:99:186,0,255 . 2 71503874 rs2542538 T C NON_SYNONYMOUS_CODING ZNF638 MODERATE|MISSENSE|Tcg/Ccg|S36P|879|ZNF638|protein_coding|CODING|ENST00000394137|exon_2_71503769_71503884 . . 0/1:99:186,0,255 . 2 71620563 rs12713748 A G NON_SYNONYMOUS_CODING ZNF638 MODERATE|MISSENSE|Atg/Gtg|M840V|918|ZNF638|protein_coding|CODING|ENST00000410075|exon_2_71620524_71620775 . . . 0/1:99:179,0,255 2 71620563 rs12713748 A G NON_SYNONYMOUS_CODING ZNF638 MODERATE|MISSENSE|Atg/Gtg|M946V|1024|ZNF638|protein_coding|CODING|ENST00000544512|exon_2_71620524_71620775 . . . 0/1:99:179,0,255 2 71631109 rs3732235 A G NON_SYNONYMOUS_CODING ZNF638 MODERATE|MISSENSE|aAc/aGc|N559S|879|ZNF638|protein_coding|CODING|ENST00000394137|exon_2_71631000_71631128 . . . 0/1:99:255,0,255 2 71631109 rs3732235 A G NON_SYNONYMOUS_CODING ZNF638 MODERATE|MISSENSE|aAc/aGc|N980S|1139|ZNF638|protein_coding|CODING|ENST00000355812|exon_2_71631000_71631128 . . . 0/1:99:255,0,255 2 71631109 rs3732235 A G NON_SYNONYMOUS_CODING ZNF638 MODERATE|MISSENSE|aAc/aGc|N980S|1978|ZNF638|protein_coding|CODING|ENST00000264447|exon_2_71631000_71631128 . . . 0/1:99:255,0,255 2 71631109 rs3732235 A G NON_SYNONYMOUS_CODING ZNF638 MODERATE|MISSENSE|aAc/aGc|N980S|1978|ZNF638|protein_coding|CODING|ENST00000409544|exon_2_71631000_71631128 . . . 0/1:99:255,0,255 2 71658541 rs11542286 C T NON_SYNONYMOUS_CODING ZNF638 MODERATE|MISSENSE|gCg/gTg|A1912V|1978|ZNF638|protein_coding|CODING|ENST00000264447|exon_2_71658457_71658558 . . . 0/1:99:255,0,166 2 71658541 rs11542286 C T NON_SYNONYMOUS_CODING ZNF638 MODERATE|MISSENSE|gCg/gTg|A1912V|1978|ZNF638|protein_coding|CODING|ENST00000409544|exon_2_71658457_71658558 . . . 0/1:99:255,0,166 2 71658541 rs11542286 C T NON_SYNONYMOUS_CODING ZNF638 MODERATE|MISSENSE|gCg/gTg|A852V|918|ZNF638|protein_coding|CODING|ENST00000409407|exon_2_71658457_71658558 . . . 0/1:99:255,0,166 2 72362453 . G T NON_SYNONYMOUS_CODING CYP26B1 MODERATE|MISSENSE|caC/caA|H100Q|181|CYP26B1|protein_coding|CODING|ENST00000474509|exon_2_72362273_72362548 0/1:99:232,0,196 . . . 2 72362453 . G T NON_SYNONYMOUS_CODING CYP26B1 MODERATE|MISSENSE|caC/caA|H100Q|437|CYP26B1|protein_coding|CODING|ENST00000546307|exon_2_72362273_72362548 0/1:99:232,0,196 . . . 2 72362453 . G T NON_SYNONYMOUS_CODING CYP26B1 MODERATE|MISSENSE|caC/caA|H158Q|171|CYP26B1|protein_coding|CODING|ENST00000461519|exon_2_72362409_72362548 0/1:99:232,0,196 . . . 2 72362453 . G T NON_SYNONYMOUS_CODING CYP26B1 MODERATE|MISSENSE|caC/caA|H175Q|512|CYP26B1|protein_coding|CODING|ENST00000001146|exon_2_72362273_72362548 0/1:99:232,0,196 . . . 2 73151349 . G A NON_SYNONYMOUS_CODING EMX1 MODERATE|MISSENSE|cGc/cAc|R11H|102|EMX1|protein_coding|CODING|ENST00000464675|exon_2_73151117_73151622 . . 0/1:99:251,0,221 . 2 73651967 rs3813227 C T NON_SYNONYMOUS_CODING ALMS1 MODERATE|MISSENSE|Cgt/Tgt|R350C|4125|ALMS1|protein_coding|CODING|ENST00000409009|exon_2_73651558_73652030 . 1/1:99:255,138,0 0/1:99:255,0,255 0/1:99:255,0,255 2 73651967 rs3813227 C T NON_SYNONYMOUS_CODING ALMS1 MODERATE|MISSENSE|Cgt/Tgt|R392C|2561|ALMS1|protein_coding|CODING|ENST00000377715|exon_2_73651558_73652030 . 1/1:99:255,138,0 0/1:99:255,0,255 0/1:99:255,0,255 2 73651967 rs3813227 C T NON_SYNONYMOUS_CODING ALMS1 MODERATE|MISSENSE|Cgt/Tgt|R392C|4167|ALMS1|protein_coding|CODING|ENST00000264448|exon_2_73651558_73652030 . 1/1:99:255,138,0 0/1:99:255,0,255 0/1:99:255,0,255 2 73677898 rs6546837 G C NON_SYNONYMOUS_CODING ALMS1 MODERATE|MISSENSE|gGt/gCt|G1372A|4125|ALMS1|protein_coding|CODING|ENST00000409009|exon_2_73675090_73681194 . 1/1:99:255,105,0 0/1:99:255,0,192 0/1:99:255,0,255 2 73677898 rs6546837 G C NON_SYNONYMOUS_CODING ALMS1 MODERATE|MISSENSE|gGt/gCt|G1414A|2561|ALMS1|protein_coding|CODING|ENST00000377715|exon_2_73675090_73681194 . 1/1:99:255,105,0 0/1:99:255,0,192 0/1:99:255,0,255 2 73677898 rs6546837 G C NON_SYNONYMOUS_CODING ALMS1 MODERATE|MISSENSE|gGt/gCt|G1414A|4167|ALMS1|protein_coding|CODING|ENST00000264448|exon_2_73675090_73681194 . 1/1:99:255,105,0 0/1:99:255,0,192 0/1:99:255,0,255 2 73679280 rs6546838 A G NON_SYNONYMOUS_CODING ALMS1 MODERATE|MISSENSE|Ata/Gta|I1833V|4125|ALMS1|protein_coding|CODING|ENST00000409009|exon_2_73675090_73681194 . 1/1:99:255,105,0 0/1:99:230,0,255 0/1:99:246,0,255 2 73679280 rs6546838 A G NON_SYNONYMOUS_CODING ALMS1 MODERATE|MISSENSE|Ata/Gta|I1875V|2561|ALMS1|protein_coding|CODING|ENST00000377715|exon_2_73675090_73681194 . 1/1:99:255,105,0 0/1:99:230,0,255 0/1:99:246,0,255 2 73679280 rs6546838 A G NON_SYNONYMOUS_CODING ALMS1 MODERATE|MISSENSE|Ata/Gta|I1875V|4167|ALMS1|protein_coding|CODING|ENST00000264448|exon_2_73675090_73681194 . 1/1:99:255,105,0 0/1:99:230,0,255 0/1:99:246,0,255 2 73679866 rs10496192 T C NON_SYNONYMOUS_CODING ALMS1 MODERATE|MISSENSE|aTt/aCt|I2028T|4125|ALMS1|protein_coding|CODING|ENST00000409009|exon_2_73675090_73681194 . 1/1:99:255,123,0 0/1:99:255,0,255 0/1:99:255,0,211 2 73679866 rs10496192 T C NON_SYNONYMOUS_CODING ALMS1 MODERATE|MISSENSE|aTt/aCt|I2070T|2561|ALMS1|protein_coding|CODING|ENST00000377715|exon_2_73675090_73681194 . 1/1:99:255,123,0 0/1:99:255,0,255 0/1:99:255,0,211 2 73679866 rs10496192 T C NON_SYNONYMOUS_CODING ALMS1 MODERATE|MISSENSE|aTt/aCt|I2070T|4167|ALMS1|protein_coding|CODING|ENST00000264448|exon_2_73675090_73681194 . 1/1:99:255,123,0 0/1:99:255,0,255 0/1:99:255,0,211 2 73679956 rs28730854 C T NON_SYNONYMOUS_CODING ALMS1 MODERATE|MISSENSE|tCg/tTg|S2058L|4125|ALMS1|protein_coding|CODING|ENST00000409009|exon_2_73675090_73681194 . 0/1:99:165,0,255 . . 2 73679956 rs28730854 C T NON_SYNONYMOUS_CODING ALMS1 MODERATE|MISSENSE|tCg/tTg|S2100L|2561|ALMS1|protein_coding|CODING|ENST00000377715|exon_2_73675090_73681194 . 0/1:99:165,0,255 . . 2 73679956 rs28730854 C T NON_SYNONYMOUS_CODING ALMS1 MODERATE|MISSENSE|tCg/tTg|S2100L|4167|ALMS1|protein_coding|CODING|ENST00000264448|exon_2_73675090_73681194 . 0/1:99:165,0,255 . . 2 73679990 rs6724782 T A NON_SYNONYMOUS_CODING ALMS1 MODERATE|MISSENSE|agT/agA|S2069R|4125|ALMS1|protein_coding|CODING|ENST00000409009|exon_2_73675090_73681194 . 1/1:99:255,108,0 0/1:99:255,0,255 0/1:99:218,0,255 2 73679990 rs6724782 T A NON_SYNONYMOUS_CODING ALMS1 MODERATE|MISSENSE|agT/agA|S2111R|2561|ALMS1|protein_coding|CODING|ENST00000377715|exon_2_73675090_73681194 . 1/1:99:255,108,0 0/1:99:255,0,255 0/1:99:218,0,255 2 73679990 rs6724782 T A NON_SYNONYMOUS_CODING ALMS1 MODERATE|MISSENSE|agT/agA|S2111R|4167|ALMS1|protein_coding|CODING|ENST00000264448|exon_2_73675090_73681194 . 1/1:99:255,108,0 0/1:99:255,0,255 0/1:99:218,0,255 2 73680508 rs6546839 G C NON_SYNONYMOUS_CODING ALMS1 MODERATE|MISSENSE|cGt/cCt|R2242P|4125|ALMS1|protein_coding|CODING|ENST00000409009|exon_2_73675090_73681194 . 1/1:99:255,90,0 0/1:99:255,0,219 0/1:99:255,0,198 2 73680508 rs6546839 G C NON_SYNONYMOUS_CODING ALMS1 MODERATE|MISSENSE|cGt/cCt|R2284P|2561|ALMS1|protein_coding|CODING|ENST00000377715|exon_2_73675090_73681194 . 1/1:99:255,90,0 0/1:99:255,0,219 0/1:99:255,0,198 2 73680508 rs6546839 G C NON_SYNONYMOUS_CODING ALMS1 MODERATE|MISSENSE|cGt/cCt|R2284P|4167|ALMS1|protein_coding|CODING|ENST00000264448|exon_2_73675090_73681194 . 1/1:99:255,90,0 0/1:99:255,0,219 0/1:99:255,0,198 2 73717567 rs2056486 G T NON_SYNONYMOUS_CODING ALMS1 MODERATE|MISSENSE|agG/agT|R2784S|4125|ALMS1|protein_coding|CODING|ENST00000409009|exon_2_73716761_73718625 . 1/1:99:255,69,0 0/1:99:255,0,255 0/1:99:255,0,255 2 73717567 rs2056486 G T NON_SYNONYMOUS_CODING ALMS1 MODERATE|MISSENSE|agG/agT|R2826S|4167|ALMS1|protein_coding|CODING|ENST00000264448|exon_2_73716761_73718625 . 1/1:99:255,69,0 0/1:99:255,0,255 0/1:99:255,0,255 2 73717656 rs10193972 A G NON_SYNONYMOUS_CODING ALMS1 MODERATE|MISSENSE|aAc/aGc|N2814S|4125|ALMS1|protein_coding|CODING|ENST00000409009|exon_2_73716761_73718625 . 1/1:99:255,96,0 0/1:99:255,0,189 0/1:99:255,0,255 2 73717656 rs10193972 A G NON_SYNONYMOUS_CODING ALMS1 MODERATE|MISSENSE|aAc/aGc|N2856S|4167|ALMS1|protein_coding|CODING|ENST00000264448|exon_2_73716761_73718625 . 1/1:99:255,96,0 0/1:99:255,0,189 0/1:99:255,0,255 2 73827844 rs201673771 G A NON_SYNONYMOUS_CODING ALMS1 MODERATE|MISSENSE|cGa/cAa|R3860Q|4125|ALMS1|protein_coding|CODING|ENST00000409009|exon_2_73827805_73828008 . . . 0/1:99:255,0,153 2 73827844 rs201673771 G A NON_SYNONYMOUS_CODING ALMS1 MODERATE|MISSENSE|cGa/cAa|R3902Q|4167|ALMS1|protein_coding|CODING|ENST00000264448|exon_2_73827805_73828008 . . . 0/1:99:255,0,153 2 73868328 rs13538 A G NON_SYNONYMOUS_CODING NAT8 MODERATE|MISSENSE|tTt/tCt|F143S|227|NAT8|protein_coding|CODING|ENST00000272425|exon_2_73867959_73868829 . 1/1:99:255,90,0 0/1:99:255,0,146 0/1:99:192,0,253 2 74159734 rs6737156 T C NON_SYNONYMOUS_CODING DGUOK MODERATE|MISSENSE|cTc/cCc|L51P|255|DGUOK|protein_coding|CODING|ENST00000356837|exon_2_74159725_74159771 . 0/1:99:212,0,255 . . 2 74177777 rs74874677 A G NON_SYNONYMOUS_CODING DGUOK MODERATE|MISSENSE|cAg/cGg|Q132R|239|DGUOK|protein_coding|CODING|ENST00000347161|exon_2_74177712_74177859 . 0/1:99:255,0,255 . . 2 74177777 rs74874677 A G NON_SYNONYMOUS_CODING DGUOK MODERATE|MISSENSE|cAg/cGg|Q148R|255|DGUOK|protein_coding|CODING|ENST00000356837|exon_2_74177712_74177859 . 0/1:99:255,0,255 . . 2 74177777 rs74874677 A G NON_SYNONYMOUS_CODING DGUOK MODERATE|MISSENSE|cAg/cGg|Q170R|277|DGUOK|protein_coding|CODING|ENST00000264093|exon_2_74177712_74177859 . 0/1:99:255,0,255 . . 2 74598723 rs55862001 T C NON_SYNONYMOUS_CODING DCTN1 MODERATE|MISSENSE|Atc/Gtc|I159V|1236|DCTN1|protein_coding|CODING|ENST00000409240|exon_2_74598664_74598855 . 0/1:99:247,0,171 . . 2 74598723 rs55862001 T C NON_SYNONYMOUS_CODING DCTN1 MODERATE|MISSENSE|Atc/Gtc|I176V|1253|DCTN1|protein_coding|CODING|ENST00000409567|exon_2_74598664_74598855 . 0/1:99:247,0,171 . . 2 74598723 rs55862001 T C NON_SYNONYMOUS_CODING DCTN1 MODERATE|MISSENSE|Atc/Gtc|I179V|1256|DCTN1|protein_coding|CODING|ENST00000409868|exon_2_74598664_74598855 . 0/1:99:247,0,171 . . 2 74598723 rs55862001 T C NON_SYNONYMOUS_CODING DCTN1 MODERATE|MISSENSE|Atc/Gtc|I179V|1261|DCTN1|protein_coding|CODING|ENST00000393999|exon_2_74598664_74598855 . 0/1:99:247,0,171 . . 2 74598723 rs55862001 T C NON_SYNONYMOUS_CODING DCTN1 MODERATE|MISSENSE|Atc/Gtc|I189V|1271|DCTN1|protein_coding|CODING|ENST00000394003|exon_2_74598664_74598855 . 0/1:99:247,0,171 . . 2 74598723 rs55862001 T C NON_SYNONYMOUS_CODING DCTN1 MODERATE|MISSENSE|Atc/Gtc|I196V|1278|DCTN1|protein_coding|CODING|ENST00000361874|exon_2_74598664_74598855 . 0/1:99:247,0,171 . . 2 74598723 rs55862001 T C NON_SYNONYMOUS_CODING DCTN1 MODERATE|MISSENSE|Atc/Gtc|I62V|1139|DCTN1|protein_coding|CODING|ENST00000409438|exon_2_74598664_74598855 . 0/1:99:247,0,171 . . 2 74598723 rs55862001 T C NON_SYNONYMOUS_CODING DCTN1 MODERATE|MISSENSE|Atc/Gtc|I62V|1144|DCTN1|protein_coding|CODING|ENST00000407639|exon_2_74598664_74598855 . 0/1:99:247,0,171 . . 2 74689078 rs142032474 C T NON_SYNONYMOUS_CODING MOGS MODERATE|MISSENSE|cGg/cAg|R507Q|731|MOGS|protein_coding|CODING|ENST00000452063|exon_2_74688185_74690139 0/1:99:197,0,255 . 0/1:99:255,0,190 . 2 74689078 rs142032474 C T NON_SYNONYMOUS_CODING MOGS MODERATE|MISSENSE|cGg/cAg|R613Q|837|MOGS|protein_coding|CODING|ENST00000233616|exon_2_74688184_74690139 0/1:99:197,0,255 . 0/1:99:255,0,190 . 2 74725069 rs144660513 T C NON_SYNONYMOUS_CODING LBX2 MODERATE|MISSENSE|atA/atG|I190M|194|LBX2|protein_coding|CODING|ENST00000460508|exon_2_74724644_74725445 . 0/1:99:209,0,255 . . 2 74725069 rs144660513 T C NON_SYNONYMOUS_CODING LBX2 MODERATE|MISSENSE|atA/atG|I194M|198|LBX2|protein_coding|CODING|ENST00000377566|exon_2_74724644_74725445 . 0/1:99:209,0,255 . . 2 74763996 . G A NON_SYNONYMOUS_CODING LOXL3 MODERATE|MISSENSE|aCg/aTg|T251M|302|LOXL3|protein_coding|CODING|ENST00000413469|exon_2_74763838_74764055 . . 0/1:99:201,0,243 . 2 74763996 . G A NON_SYNONYMOUS_CODING LOXL3 MODERATE|MISSENSE|aCg/aTg|T251M|471|LOXL3|protein_coding|CODING|ENST00000409249|exon_2_74763836_74764055 . . 0/1:99:201,0,243 . 2 74763996 . G A NON_SYNONYMOUS_CODING LOXL3 MODERATE|MISSENSE|aCg/aTg|T251M|697|LOXL3|protein_coding|CODING|ENST00000409549|exon_2_74763836_74764055 . . 0/1:99:201,0,243 . 2 74763996 . G A NON_SYNONYMOUS_CODING LOXL3 MODERATE|MISSENSE|aCg/aTg|T251M|753|LOXL3|protein_coding|CODING|ENST00000264094|exon_2_74763836_74764055 . . 0/1:99:201,0,243 . 2 75099477 rs2229621 A T NON_SYNONYMOUS_CODING HK2 MODERATE|MISSENSE|caA/caT|Q114H|889|HK2|protein_coding|CODING|ENST00000409174|exon_2_75099427_75099546 . . . 0/1:99:244,0,255 2 75099477 rs2229621 A T NON_SYNONYMOUS_CODING HK2 MODERATE|MISSENSE|caA/caT|Q142H|917|HK2|protein_coding|CODING|ENST00000290573|exon_2_75099427_75099546 . . . 0/1:99:244,0,255 2 75099477 rs2229621 A T NON_SYNONYMOUS_CODING HK2 MODERATE|MISSENSE|caA/caT|Q142H|917|HK2|protein_coding|CODING|ENST00000535740|exon_2_75099427_75099546 . . . 0/1:99:244,0,255 2 75105840 rs61748096 C T NON_SYNONYMOUS_CODING HK2 MODERATE|MISSENSE|Cgt/Tgt|R325C|889|HK2|protein_coding|CODING|ENST00000409174|exon_2_75105815_75106048 . . 0/1:99:207,0,155 . 2 75105840 rs61748096 C T NON_SYNONYMOUS_CODING HK2 MODERATE|MISSENSE|Cgt/Tgt|R353C|917|HK2|protein_coding|CODING|ENST00000290573|exon_2_75105815_75106048 . . 0/1:99:207,0,155 . 2 75105840 rs61748096 C T NON_SYNONYMOUS_CODING HK2 MODERATE|MISSENSE|Cgt/Tgt|R353C|917|HK2|protein_coding|CODING|ENST00000535740|exon_2_75105815_75106048 . . 0/1:99:207,0,155 . 2 75278553 rs17838409 C T NON_SYNONYMOUS_CODING TACR1 MODERATE|MISSENSE|Gtg/Atg|V253M|311|TACR1|protein_coding|CODING|ENST00000409848|exon_2_75278163_75278574 . 0/1:99:255,0,249 . . 2 75278553 rs17838409 C T NON_SYNONYMOUS_CODING TACR1 MODERATE|MISSENSE|Gtg/Atg|V253M|407|TACR1|protein_coding|CODING|ENST00000305249|exon_2_75278378_75278574 . 0/1:99:255,0,249 . . 2 80530062 rs76300062 T C NON_SYNONYMOUS_CODING LRRTM1 MODERATE|MISSENSE|Atc/Gtc|I295V|522|LRRTM1|protein_coding|CODING|ENST00000295057|exon_2_80529003_80531003 . . 0/1:99:255,0,158 . 2 80530062 rs76300062 T C NON_SYNONYMOUS_CODING LRRTM1 MODERATE|MISSENSE|Atc/Gtc|I295V|522|LRRTM1|protein_coding|CODING|ENST00000409148|exon_2_80529005_80531003 . . 0/1:99:255,0,158 . 2 84846930 rs61743118 A G NON_SYNONYMOUS_CODING DNAH6 MODERATE|MISSENSE|Atg/Gtg|M1232V|2530|DNAH6|protein_coding|CODING|ENST00000398278|exon_2_84846809_84847028 . . 0/1:99:255,0,255 . 2 84846930 rs61743118 A G NON_SYNONYMOUS_CODING DNAH6 MODERATE|MISSENSE|Atg/Gtg|M1232V|4158|DNAH6|protein_coding|CODING|ENST00000237449|exon_2_84846809_84847028 . . 0/1:99:255,0,255 . 2 84846930 rs61743118 A G NON_SYNONYMOUS_CODING DNAH6 MODERATE|MISSENSE|Atg/Gtg|M1232V|4158|DNAH6|protein_coding|CODING|ENST00000389394|exon_2_84846809_84847028 . . 0/1:99:255,0,255 . 2 84880445 rs28375417 G C NON_SYNONYMOUS_CODING DNAH6 MODERATE|MISSENSE|gGa/gCa|G1694A|2530|DNAH6|protein_coding|CODING|ENST00000398278|exon_2_84880443_84880998 0/1:99:255,0,255 . . 0/1:99:255,0,255 2 84880445 rs28375417 G C NON_SYNONYMOUS_CODING DNAH6 MODERATE|MISSENSE|gGa/gCa|G1694A|4158|DNAH6|protein_coding|CODING|ENST00000237449|exon_2_84880443_84880998 0/1:99:255,0,255 . . 0/1:99:255,0,255 2 84880445 rs28375417 G C NON_SYNONYMOUS_CODING DNAH6 MODERATE|MISSENSE|gGa/gCa|G1694A|4158|DNAH6|protein_coding|CODING|ENST00000389394|exon_2_84880443_84880998 0/1:99:255,0,255 . . 0/1:99:255,0,255 2 84924823 rs78190897 T C NON_SYNONYMOUS_CODING DNAH6 MODERATE|MISSENSE|gTa/gCa|V2501A|2530|DNAH6|protein_coding|CODING|ENST00000398278|exon_2_84924699_84924914 . 0/1:99:255,0,240 . 0/1:99:189,0,255 2 84924823 rs78190897 T C NON_SYNONYMOUS_CODING DNAH6 MODERATE|MISSENSE|gTa/gCa|V2550A|4158|DNAH6|protein_coding|CODING|ENST00000237449|exon_2_84924699_84924851 . 0/1:99:255,0,240 . 0/1:99:189,0,255 2 84924823 rs78190897 T C NON_SYNONYMOUS_CODING DNAH6 MODERATE|MISSENSE|gTa/gCa|V2550A|4158|DNAH6|protein_coding|CODING|ENST00000389394|exon_2_84924699_84924851 . 0/1:99:255,0,240 . 0/1:99:189,0,255 2 85032868 rs192646174 A G NON_SYNONYMOUS_CODING DNAH6 MODERATE|MISSENSE|aAt/aGt|N3854S|4158|DNAH6|protein_coding|CODING|ENST00000237449|exon_2_85032789_85032918 . . 0/1:99:230,0,255 . 2 85032868 rs192646174 A G NON_SYNONYMOUS_CODING DNAH6 MODERATE|MISSENSE|aAt/aGt|N3854S|4158|DNAH6|protein_coding|CODING|ENST00000389394|exon_2_85032789_85032918 . . 0/1:99:230,0,255 . 2 85051122 rs1649292 G A NON_SYNONYMOUS_CODING C2orf89 MODERATE|MISSENSE|cCg/cTg|P381L|456|C2orf89|protein_coding|CODING|ENST00000335459|exon_2_85051077_85051328 . 0/1:99:200,0,215 . 0/1:99:255,0,128 2 85051122 rs1649292 G A NON_SYNONYMOUS_CODING C2orf89 MODERATE|MISSENSE|cCg/cTg|P430L|505|C2orf89|protein_coding|CODING|ENST00000409520|exon_2_85051077_85051328 . 0/1:99:200,0,215 . 0/1:99:255,0,128 2 86371717 . T G NON_SYNONYMOUS_CODING IMMT MODERATE|MISSENSE|Acc/Ccc|T265P|372|IMMT|protein_coding|CODING|ENST00000398211|exon_2_86371072_86371824 . . . 0/1:99:255,0,188 2 86371717 . T G NON_SYNONYMOUS_CODING IMMT MODERATE|MISSENSE|Acc/Ccc|T552P|659|IMMT|protein_coding|CODING|ENST00000254636|exon_2_86371055_86372004 . . . 0/1:99:255,0,188 2 86371717 . T G NON_SYNONYMOUS_CODING IMMT MODERATE|MISSENSE|Acc/Ccc|T552P|659|IMMT|protein_coding|CODING|ENST00000409715|exon_2_86371311_86372004 . . . 0/1:99:255,0,188 2 86371717 . T G NON_SYNONYMOUS_CODING IMMT MODERATE|MISSENSE|Acc/Ccc|T604P|711|IMMT|protein_coding|CODING|ENST00000409051|exon_2_86371063_86372004 . . . 0/1:99:255,0,188 2 86371717 . T G NON_SYNONYMOUS_CODING IMMT MODERATE|MISSENSE|Acc/Ccc|T619P|726|IMMT|protein_coding|CODING|ENST00000377310|exon_2_86371063_86372004 . . . 0/1:99:255,0,188 2 86371717 . T G NON_SYNONYMOUS_CODING IMMT MODERATE|MISSENSE|Acc/Ccc|T640P|747|IMMT|protein_coding|CODING|ENST00000449247|exon_2_86371055_86372004 . . . 0/1:99:255,0,188 2 86371717 . T G NON_SYNONYMOUS_CODING IMMT MODERATE|MISSENSE|Acc/Ccc|T640P|747|IMMT|protein_coding|CODING|ENST00000545283|exon_2_86371063_86372004 . . . 0/1:99:255,0,188 2 86371717 . T G NON_SYNONYMOUS_CODING IMMT MODERATE|MISSENSE|Acc/Ccc|T650P|757|IMMT|protein_coding|CODING|ENST00000442664|exon_2_86371059_86372004 . . . 0/1:99:255,0,188 2 86371717 . T G NON_SYNONYMOUS_CODING IMMT MODERATE|MISSENSE|Acc/Ccc|T651P|758|IMMT|protein_coding|CODING|ENST00000410111|exon_2_86371055_86372004 . . . 0/1:99:255,0,188 2 87017989 rs36227194 G T NON_SYNONYMOUS_CODING CD8A MODERATE|MISSENSE|gCg/gAg|A28E|276|CD8A|protein_coding|CODING|ENST00000538832|exon_2_87017900_87018218 . . 0/1:99:99,0,146 . 2 87042825 rs35555413 T C NON_SYNONYMOUS_CODING CD8B MODERATE|MISSENSE|Ata/Gta|I183V|213|CD8B|protein_coding|CODING|ENST00000349455|exon_2_87042573_87042841 0/1:99:255,0,255 . 0/1:99:255,0,239 . 2 87042825 rs35555413 T C NON_SYNONYMOUS_CODING CD8B MODERATE|MISSENSE|Ata/Gta|I213V|243|CD8B|protein_coding|CODING|ENST00000331469|exon_2_87042680_87042841 0/1:99:255,0,255 . 0/1:99:255,0,239 . 2 87042825 rs35555413 T C NON_SYNONYMOUS_CODING CD8B MODERATE|MISSENSE|Ata/Gta|I21V|49|CD8B|protein_coding|CODING|ENST00000534926|exon_2_87042736_87042845 0/1:99:255,0,255 . 0/1:99:255,0,239 . 2 87073852 rs2228022 C T NON_SYNONYMOUS_CODING CD8B MODERATE|MISSENSE|Gtc/Atc|V180I|207|CD8B|protein_coding|CODING|ENST00000445248|exon_2_87073807_87073896 0/1:99:247,0,154 . . 0/1:99:117,0,225 2 87073852 rs2228022 C T NON_SYNONYMOUS_CODING CD8B MODERATE|MISSENSE|Gtc/Atc|V180I|210|CD8B|protein_coding|CODING|ENST00000390655|exon_2_87073807_87073896 0/1:99:247,0,154 . . 0/1:99:117,0,225 2 87073852 rs2228022 C T NON_SYNONYMOUS_CODING CD8B MODERATE|MISSENSE|Gtc/Atc|V180I|221|CD8B|protein_coding|CODING|ENST00000393759|exon_2_87073807_87073896 0/1:99:247,0,154 . . 0/1:99:117,0,225 2 87073852 rs2228022 C T NON_SYNONYMOUS_CODING CD8B MODERATE|MISSENSE|Gtc/Atc|V180I|243|CD8B|protein_coding|CODING|ENST00000331469|exon_2_87073807_87073896 0/1:99:247,0,154 . . 0/1:99:117,0,225 2 95537500 . G A NON_SYNONYMOUS_CODING TEKT4 MODERATE|MISSENSE|cGc/cAc|R59H|225|TEKT4|protein_coding|CODING|ENST00000427593|exon_2_95537253_95537822 . . . 0/1:83:80,0,142 2 95537500 . G A NON_SYNONYMOUS_CODING TEKT4 MODERATE|MISSENSE|cGc/cAc|R59H|435|TEKT4|protein_coding|CODING|ENST00000295201|exon_2_95537188_95537822 . . . 0/1:83:80,0,142 2 95539308 rs144244578 C A NON_SYNONYMOUS_CODING TEKT4 MODERATE|MISSENSE|aCc/aAc|T181N|435|TEKT4|protein_coding|CODING|ENST00000295201|exon_2_95539265_95539335 . 0/1:99:255,0,133 . . 2 95947099 rs72819488 G A NON_SYNONYMOUS_CODING PROM2 MODERATE|MISSENSE|Ggc/Agc|G513S|785|PROM2|protein_coding|CODING|ENST00000542147|exon_2_95946990_95947113 0/1:99:126,0,206 0/1:99:214,0,166 0/1:99:205,0,121 0/1:99:184,0,107 2 95947099 rs72819488 G A NON_SYNONYMOUS_CODING PROM2 MODERATE|MISSENSE|Ggc/Agc|G513S|834|PROM2|protein_coding|CODING|ENST00000317620|exon_2_95946990_95947113 0/1:99:126,0,206 0/1:99:214,0,166 0/1:99:205,0,121 0/1:99:184,0,107 2 95947099 rs72819488 G A NON_SYNONYMOUS_CODING PROM2 MODERATE|MISSENSE|Ggc/Agc|G513S|834|PROM2|protein_coding|CODING|ENST00000317668|exon_2_95946990_95947113 0/1:99:126,0,206 0/1:99:214,0,166 0/1:99:205,0,121 0/1:99:184,0,107 2 95947099 rs72819488 G A NON_SYNONYMOUS_CODING PROM2 MODERATE|MISSENSE|Ggc/Agc|G513S|834|PROM2|protein_coding|CODING|ENST00000403131|exon_2_95946990_95947113 0/1:99:126,0,206 0/1:99:214,0,166 0/1:99:205,0,121 0/1:99:184,0,107 2 96517515 . A G NON_SYNONYMOUS_CODING ANKRD36C MODERATE|MISSENSE|aTg/aCg|M1747T|1778|ANKRD36C|protein_coding|CODING|ENST00000456556|exon_2_96517442_96517535 . . 0/1:99:212,0,255 . 2 96517515 . A G NON_SYNONYMOUS_CODING ANKRD36C MODERATE|MISSENSE|aTg/aCg|M774T|798|ANKRD36C|protein_coding|CODING|ENST00000419039|exon_2_96517439_96517535 . . 0/1:99:212,0,255 . 2 96517515 . A G NON_SYNONYMOUS_CODING ANKRD36C MODERATE|MISSENSE|aTg/aCg|M998T|1028|ANKRD36C|protein_coding|CODING|ENST00000420871|exon_2_96517437_96517535 . . 0/1:99:212,0,255 . 2 96517893 rs77129683 T C NON_SYNONYMOUS_CODING ANKRD36C MODERATE|MISSENSE|Atg/Gtg|M1734V|1778|ANKRD36C|protein_coding|CODING|ENST00000456556|exon_2_96517874_96517944 0/1:63:60,0,255 . . . 2 96517893 rs77129683 T C NON_SYNONYMOUS_CODING ANKRD36C MODERATE|MISSENSE|Atg/Gtg|M761V|798|ANKRD36C|protein_coding|CODING|ENST00000419039|exon_2_96517874_96517944 0/1:63:60,0,255 . . . 2 96517893 rs77129683 T C NON_SYNONYMOUS_CODING ANKRD36C MODERATE|MISSENSE|Atg/Gtg|M985V|1028|ANKRD36C|protein_coding|CODING|ENST00000420871|exon_2_96517874_96517944 0/1:63:60,0,255 . . . 2 96517905 rs80041617 A T NON_SYNONYMOUS_CODING ANKRD36C MODERATE|MISSENSE|Tgt/Agt|C1730S|1778|ANKRD36C|protein_coding|CODING|ENST00000456556|exon_2_96517874_96517944 0/1:57:54,0,255 . . . 2 96517905 rs80041617 A T NON_SYNONYMOUS_CODING ANKRD36C MODERATE|MISSENSE|Tgt/Agt|C757S|798|ANKRD36C|protein_coding|CODING|ENST00000419039|exon_2_96517874_96517944 0/1:57:54,0,255 . . . 2 96517905 rs80041617 A T NON_SYNONYMOUS_CODING ANKRD36C MODERATE|MISSENSE|Tgt/Agt|C981S|1028|ANKRD36C|protein_coding|CODING|ENST00000420871|exon_2_96517874_96517944 0/1:57:54,0,255 . . . 2 96690286 rs2579514 G A NON_SYNONYMOUS_CODING GPAT2 MODERATE|MISSENSE|Cgc/Tgc|R449C|724|GPAT2|protein_coding|CODING|ENST00000453542|exon_2_96690175_96690415 . . 0/1:99:213,0,172 . 2 96690286 rs2579514 G A NON_SYNONYMOUS_CODING GPAT2 MODERATE|MISSENSE|Cgc/Tgc|R520C|671|GPAT2|protein_coding|CODING|ENST00000377137|exon_2_96690175_96690415 . . 0/1:99:213,0,172 . 2 96690286 rs2579514 G A NON_SYNONYMOUS_CODING GPAT2 MODERATE|MISSENSE|Cgc/Tgc|R520C|795|GPAT2|protein_coding|CODING|ENST00000359548|exon_2_96690175_96690415 . . 0/1:99:213,0,172 . 2 96690286 rs2579514 G A NON_SYNONYMOUS_CODING GPAT2 MODERATE|MISSENSE|Cgc/Tgc|R520C|795|GPAT2|protein_coding|CODING|ENST00000434632|exon_2_96690175_96690415 . . 0/1:99:213,0,172 . 2 96789954 rs143968684 G A NON_SYNONYMOUS_CODING ASTL MODERATE|MISSENSE|Cgg/Tgg|R311W|431|ASTL|protein_coding|CODING|ENST00000342380|exon_2_96789589_96790010 . . 0/1:99:204,0,133 . 2 96861091 . A G NON_SYNONYMOUS_CODING STARD7 MODERATE|MISSENSE|Tac/Cac|Y163H|370|STARD7|protein_coding|CODING|ENST00000337288|exon_2_96861079_96861287 0/1:99:220,0,255 . . . 2 96861091 . A G NON_SYNONYMOUS_CODING STARD7 MODERATE|MISSENSE|Tac/Cac|Y62H|146|STARD7|protein_coding|CODING|ENST00000443962|exon_2_96861079_96861287 0/1:99:220,0,255 . . . 2 97792829 rs2443919 G A NON_SYNONYMOUS_CODING ANKRD36 MODERATE|MISSENSE|Gaa/Aaa|E253K|1941|ANKRD36|protein_coding|CODING|ENST00000420699|exon_2_97792804_97792871 . 0/1:99:116,0,255 . . 2 97792829 rs2443919 G A NON_SYNONYMOUS_CODING ANKRD36 MODERATE|MISSENSE|Gaa/Aaa|E253K|1941|ANKRD36|protein_coding|CODING|ENST00000461153|exon_2_97792804_97792871 . 0/1:99:116,0,255 . . 2 97792829 rs2443919 G A NON_SYNONYMOUS_CODING ANKRD36 MODERATE|MISSENSE|Gaa/Aaa|E253K|309|ANKRD36|protein_coding|CODING|ENST00000455519|exon_2_97792804_97792871 . 0/1:99:116,0,255 . . 2 97792829 rs2443919 G A NON_SYNONYMOUS_CODING ANKRD36 MODERATE|MISSENSE|Gaa/Aaa|E253K|345|ANKRD36|protein_coding|CODING|ENST00000393513|exon_2_97792804_97792871 . 0/1:99:116,0,255 . . 2 97830179 rs78284834 G A NON_SYNONYMOUS_CODING ANKRD36 MODERATE|MISSENSE|Ggt/Agt|G502S|1941|ANKRD36|protein_coding|CODING|ENST00000420699|exon_2_97830134_97830206 . . 0/1:61:58,0,255 . 2 97830179 rs78284834 G A NON_SYNONYMOUS_CODING ANKRD36 MODERATE|MISSENSE|Ggt/Agt|G502S|1941|ANKRD36|protein_coding|CODING|ENST00000461153|exon_2_97830134_97830206 . . 0/1:61:58,0,255 . 2 97830192 rs199506401 T C NON_SYNONYMOUS_CODING ANKRD36 MODERATE|MISSENSE|cTa/cCa|L506P|1941|ANKRD36|protein_coding|CODING|ENST00000420699|exon_2_97830134_97830206 . . 0/1:67:64,0,255 . 2 97830192 rs199506401 T C NON_SYNONYMOUS_CODING ANKRD36 MODERATE|MISSENSE|cTa/cCa|L506P|1941|ANKRD36|protein_coding|CODING|ENST00000461153|exon_2_97830134_97830206 . . 0/1:67:64,0,255 . 2 97869979 rs111515821 G T NON_SYNONYMOUS_CODING ANKRD36 MODERATE|MISSENSE|Gat/Tat|D1014Y|1941|ANKRD36|protein_coding|CODING|ENST00000420699|exon_2_97869928_97870000 0/1:99:254,0,255 . . . 2 97869979 rs111515821 G T NON_SYNONYMOUS_CODING ANKRD36 MODERATE|MISSENSE|Gat/Tat|D1014Y|1941|ANKRD36|protein_coding|CODING|ENST00000461153|exon_2_97869928_97870000 0/1:99:254,0,255 . . . 2 97869979 rs111515821 G T NON_SYNONYMOUS_CODING ANKRD36 MODERATE|MISSENSE|Gat/Tat|D376Y|1207|ANKRD36|protein_coding|CODING|ENST00000461694|exon_2_97869928_97870000 0/1:99:254,0,255 . . . 2 98275354 rs11692435 G A NON_SYNONYMOUS_CODING ACTR1B MODERATE|MISSENSE|gCt/gTt|A143V|376|ACTR1B|protein_coding|CODING|ENST00000289228|exon_2_98275342_98275466 . . . 1/1:99:255,63,0 2 98809432 rs74735968 T C NON_SYNONYMOUS_CODING VWA3B MODERATE|MISSENSE|aTt/aCt|I363T|475|VWA3B|protein_coding|CODING|ENST00000451075|exon_2_98809361_98809499 . . . 0/1:99:184,0,255 2 98809432 rs74735968 T C NON_SYNONYMOUS_CODING VWA3B MODERATE|MISSENSE|aTt/aCt|I513T|1294|VWA3B|protein_coding|CODING|ENST00000477737|exon_2_98809361_98809499 . . . 0/1:99:184,0,255 2 98809432 rs74735968 T C NON_SYNONYMOUS_CODING VWA3B MODERATE|MISSENSE|aTt/aCt|I513T|624|VWA3B|protein_coding|CODING|ENST00000435344|exon_2_98809361_98809499 . . . 0/1:99:184,0,255 2 98928429 rs17428626 C G NON_SYNONYMOUS_CODING VWA3B MODERATE|MISSENSE|gaC/gaG|D1223E|1294|VWA3B|protein_coding|CODING|ENST00000477737|exon_2_98928282_98928495 . 0/1:87:84,0,212 0/1:99:160,0,211 . 2 98928429 rs17428626 C G NON_SYNONYMOUS_CODING VWA3B MODERATE|MISSENSE|gaC/gaG|D345E|416|VWA3B|protein_coding|CODING|ENST00000358269|exon_2_98928282_98928495 . 0/1:87:84,0,212 0/1:99:160,0,211 . 2 100938226 rs74177694 G C NON_SYNONYMOUS_CODING LONRF2 MODERATE|MISSENSE|gaC/gaG|D110E|754|LONRF2|protein_coding|CODING|ENST00000393437|exon_2_100937877_100939195 1/1:16:97,9,0 . . 0/1:56:54,0,60 2 100938481 rs74177696 C G NON_SYNONYMOUS_CODING LONRF2 MODERATE|MISSENSE|caG/caC|Q25H|754|LONRF2|protein_coding|CODING|ENST00000393437|exon_2_100937877_100939195 1/1:10:70,6,0 . 0/1:52:92,0,49 . 2 101188227 rs143476375 C G NON_SYNONYMOUS_CODING PDCL3 MODERATE|MISSENSE|Ctg/Gtg|L182V|239|PDCL3|protein_coding|CODING|ENST00000264254|exon_2_101188052_101188260 . 0/1:99:255,0,255 . . 2 101437523 . C T NON_SYNONYMOUS_CODING NPAS2 MODERATE|MISSENSE|cCt/cTt|P12L|889|NPAS2|protein_coding|CODING|ENST00000542504|exon_2_101437487_101437661 . 0/1:99:233,0,184 . . 2 102003633 rs11554173 G T NON_SYNONYMOUS_CODING CREG2 MODERATE|MISSENSE|cCg/cAg|P96Q|290|CREG2|protein_coding|CODING|ENST00000324768|exon_2_102003479_102004057 . . . 0/1:99:115,0,117 2 102636127 rs28385682 G A NON_SYNONYMOUS_CODING IL1R2 MODERATE|MISSENSE|Gag/Aag|E181K|228|IL1R2|protein_coding|CODING|ENST00000457817|exon_2_102636100_102636274 . . 0/1:99:255,0,255 . 2 102636127 rs28385682 G A NON_SYNONYMOUS_CODING IL1R2 MODERATE|MISSENSE|Gag/Aag|E181K|296|IL1R2|protein_coding|CODING|ENST00000441002|exon_2_102636100_102636274 . . 0/1:99:255,0,255 . 2 102636127 rs28385682 G A NON_SYNONYMOUS_CODING IL1R2 MODERATE|MISSENSE|Gag/Aag|E181K|398|IL1R2|protein_coding|CODING|ENST00000332549|exon_2_102636100_102636274 . . 0/1:99:255,0,255 . 2 102636127 rs28385682 G A NON_SYNONYMOUS_CODING IL1R2 MODERATE|MISSENSE|Gag/Aag|E181K|398|IL1R2|protein_coding|CODING|ENST00000393414|exon_2_102636100_102636274 . . 0/1:99:255,0,255 . 2 102781649 rs2228139 C G NON_SYNONYMOUS_CODING IL1R1 MODERATE|MISSENSE|gCa/gGa|A124G|173|IL1R1|protein_coding|CODING|ENST00000409589|exon_2_102781575_102781764 . . . 0/1:99:201,0,207 2 102781649 rs2228139 C G NON_SYNONYMOUS_CODING IL1R1 MODERATE|MISSENSE|gCa/gGa|A124G|181|IL1R1|protein_coding|CODING|ENST00000430171|exon_2_102781575_102781764 . . . 0/1:99:201,0,207 2 102781649 rs2228139 C G NON_SYNONYMOUS_CODING IL1R1 MODERATE|MISSENSE|gCa/gGa|A124G|447|IL1R1|protein_coding|CODING|ENST00000409288|exon_2_102781575_102781764 . . . 0/1:99:201,0,207 2 102781649 rs2228139 C G NON_SYNONYMOUS_CODING IL1R1 MODERATE|MISSENSE|gCa/gGa|A124G|447|IL1R1|protein_coding|CODING|ENST00000409329|exon_2_102781575_102781764 . . . 0/1:99:201,0,207 2 102781649 rs2228139 C G NON_SYNONYMOUS_CODING IL1R1 MODERATE|MISSENSE|gCa/gGa|A124G|447|IL1R1|protein_coding|CODING|ENST00000424272|exon_2_102781575_102781764 . . . 0/1:99:201,0,207 2 102781649 rs2228139 C G NON_SYNONYMOUS_CODING IL1R1 MODERATE|MISSENSE|gCa/gGa|A124G|538|IL1R1|protein_coding|CODING|ENST00000409929|exon_2_102781575_102781764 . . . 0/1:99:201,0,207 2 102781649 rs2228139 C G NON_SYNONYMOUS_CODING IL1R1 MODERATE|MISSENSE|gCa/gGa|A124G|569|IL1R1|protein_coding|CODING|ENST00000233946|exon_2_102781575_102781764 . . . 0/1:99:201,0,207 2 102781649 rs2228139 C G NON_SYNONYMOUS_CODING IL1R1 MODERATE|MISSENSE|gCa/gGa|A124G|569|IL1R1|protein_coding|CODING|ENST00000410023|exon_2_102781575_102781764 . . . 0/1:99:201,0,207 2 102781651 rs76949245 C A NON_SYNONYMOUS_CODING IL1R1 MODERATE|MISSENSE|Caa/Aaa|Q125K|173|IL1R1|protein_coding|CODING|ENST00000409589|exon_2_102781575_102781764 0/1:79:76,0,246 . . . 2 102781651 rs76949245 C A NON_SYNONYMOUS_CODING IL1R1 MODERATE|MISSENSE|Caa/Aaa|Q125K|181|IL1R1|protein_coding|CODING|ENST00000430171|exon_2_102781575_102781764 0/1:79:76,0,246 . . . 2 102781651 rs76949245 C A NON_SYNONYMOUS_CODING IL1R1 MODERATE|MISSENSE|Caa/Aaa|Q125K|447|IL1R1|protein_coding|CODING|ENST00000409288|exon_2_102781575_102781764 0/1:79:76,0,246 . . . 2 102781651 rs76949245 C A NON_SYNONYMOUS_CODING IL1R1 MODERATE|MISSENSE|Caa/Aaa|Q125K|447|IL1R1|protein_coding|CODING|ENST00000409329|exon_2_102781575_102781764 0/1:79:76,0,246 . . . 2 102781651 rs76949245 C A NON_SYNONYMOUS_CODING IL1R1 MODERATE|MISSENSE|Caa/Aaa|Q125K|447|IL1R1|protein_coding|CODING|ENST00000424272|exon_2_102781575_102781764 0/1:79:76,0,246 . . . 2 102781651 rs76949245 C A NON_SYNONYMOUS_CODING IL1R1 MODERATE|MISSENSE|Caa/Aaa|Q125K|538|IL1R1|protein_coding|CODING|ENST00000409929|exon_2_102781575_102781764 0/1:79:76,0,246 . . . 2 102781651 rs76949245 C A NON_SYNONYMOUS_CODING IL1R1 MODERATE|MISSENSE|Caa/Aaa|Q125K|569|IL1R1|protein_coding|CODING|ENST00000233946|exon_2_102781575_102781764 0/1:79:76,0,246 . . . 2 102781651 rs76949245 C A NON_SYNONYMOUS_CODING IL1R1 MODERATE|MISSENSE|Caa/Aaa|Q125K|569|IL1R1|protein_coding|CODING|ENST00000410023|exon_2_102781575_102781764 0/1:79:76,0,246 . . . 2 103128665 . A G NON_SYNONYMOUS_CODING SLC9A4 MODERATE|MISSENSE|Atg/Gtg|M498V|798|SLC9A4|protein_coding|CODING|ENST00000295269|exon_2_103128662_103128732 0/1:99:250,0,255 . . . 2 103324820 rs56156264 G A NON_SYNONYMOUS_CODING SLC9A2 MODERATE|MISSENSE|Gac/Aac|D771N|812|SLC9A2|protein_coding|CODING|ENST00000233969|exon_2_103324578_103327777 . 0/1:99:255,0,188 . . 2 107040369 rs199689380 C T NON_SYNONYMOUS_CODING RGPD3 MODERATE|MISSENSE|Gaa/Aaa|E1352K|1758|RGPD3|protein_coding|CODING|ENST00000409886|exon_2_107039499_107041722 . 0/1:96:93,0,217 . . 2 107040369 rs199689380 C T NON_SYNONYMOUS_CODING RGPD3 MODERATE|MISSENSE|Gaa/Aaa|E1352K|1766|RGPD3|protein_coding|CODING|ENST00000304514|exon_2_107039499_107041722 . 0/1:96:93,0,217 . . 2 107040564 rs55993306 C T NON_SYNONYMOUS_CODING RGPD3 MODERATE|MISSENSE|Gag/Aag|E1287K|1758|RGPD3|protein_coding|CODING|ENST00000409886|exon_2_107039499_107041722 . 1/1:99:255,90,0 . . 2 107040564 rs55993306 C T NON_SYNONYMOUS_CODING RGPD3 MODERATE|MISSENSE|Gag/Aag|E1287K|1766|RGPD3|protein_coding|CODING|ENST00000304514|exon_2_107039499_107041722 . 1/1:99:255,90,0 . . 2 107040572 rs200203656 T C NON_SYNONYMOUS_CODING RGPD3 MODERATE|MISSENSE|cAc/cGc|H1284R|1758|RGPD3|protein_coding|CODING|ENST00000409886|exon_2_107039499_107041722 . . . 1/1:45:125,24,0 2 107040572 rs200203656 T C NON_SYNONYMOUS_CODING RGPD3 MODERATE|MISSENSE|cAc/cGc|H1284R|1766|RGPD3|protein_coding|CODING|ENST00000304514|exon_2_107039499_107041722 . . . 1/1:45:125,24,0 2 107041299 rs201950587 C T NON_SYNONYMOUS_CODING RGPD3 MODERATE|MISSENSE|Gtt/Att|V1042I|1758|RGPD3|protein_coding|CODING|ENST00000409886|exon_2_107039499_107041722 . . . 0/1:22:61,0,19 2 107041299 rs201950587 C T NON_SYNONYMOUS_CODING RGPD3 MODERATE|MISSENSE|Gtt/Att|V1042I|1766|RGPD3|protein_coding|CODING|ENST00000304514|exon_2_107039499_107041722 . . . 0/1:22:61,0,19 2 107041299 rs201950587 C T NON_SYNONYMOUS_CODING RGPD3 MODERATE|MISSENSE|Gtt/Att|V800I|1125|RGPD3|protein_coding|CODING|ENST00000452099|exon_2_107040826_107041722 . . . 0/1:22:61,0,19 2 107459974 rs3796110 C T NON_SYNONYMOUS_CODING ST6GAL2 MODERATE|MISSENSE|Ggg/Agg|G154R|466|ST6GAL2|protein_coding|CODING|ENST00000409087|exon_2_107459491_107460490 0/1:99:159,0,235 . . 0/1:99:146,0,182 2 107459974 rs3796110 C T NON_SYNONYMOUS_CODING ST6GAL2 MODERATE|MISSENSE|Ggg/Agg|G154R|529|ST6GAL2|protein_coding|CODING|ENST00000361686|exon_2_107459491_107460490 0/1:99:159,0,235 . . 0/1:99:146,0,182 2 107459974 rs3796110 C T NON_SYNONYMOUS_CODING ST6GAL2 MODERATE|MISSENSE|Ggg/Agg|G154R|529|ST6GAL2|protein_coding|CODING|ENST00000409382|exon_2_107459491_107460490 0/1:99:159,0,235 . . 0/1:99:146,0,182 2 108875471 rs13385082 G T NON_SYNONYMOUS_CODING SULT1C3 MODERATE|MISSENSE|tGg/tTg|W224L|304|SULT1C3|protein_coding|CODING|ENST00000376700|exon_2_108875422_108875602 . . 0/1:99:253,0,230 . 2 108994808 rs1402467 C G NON_SYNONYMOUS_CODING SULT1C4 MODERATE|MISSENSE|gaC/gaG|D5E|227|SULT1C4|protein_coding|CODING|ENST00000409309|exon_2_108994641_108994962 . . 0/1:99:238,0,210 . 2 108994808 rs1402467 C G NON_SYNONYMOUS_CODING SULT1C4 MODERATE|MISSENSE|gaC/gaG|D5E|302|SULT1C4|protein_coding|CODING|ENST00000272452|exon_2_108994468_108994962 . . 0/1:99:238,0,210 . 2 109746039 rs34609468 G A NON_SYNONYMOUS_CODING SH3RF3 MODERATE|MISSENSE|Gcc/Acc|A15T|715|SH3RF3|protein_coding|CODING|ENST00000418513|exon_2_109745804_109746569 0/1:99:166,0,99 . 0/1:99:116,0,110 . 2 109746039 rs34609468 G A NON_SYNONYMOUS_CODING SH3RF3 MODERATE|MISSENSE|Gcc/Acc|A15T|882|SH3RF3|protein_coding|CODING|ENST00000309415|exon_2_109745997_109746569 0/1:99:166,0,99 . 0/1:99:116,0,110 . 2 111850515 rs17041850 C T NON_SYNONYMOUS_CODING ACOXL MODERATE|MISSENSE|cCc/cTc|P343L|355|ACOXL|protein_coding|CODING|ENST00000417074|exon_2_111850442_111850543 . 0/1:99:162,0,237 . . 2 111850515 rs17041850 C T NON_SYNONYMOUS_CODING ACOXL MODERATE|MISSENSE|cCc/cTc|P356L|431|ACOXL|protein_coding|CODING|ENST00000422487|exon_2_111850442_111850543 . 0/1:99:162,0,237 . . 2 111850515 rs17041850 C T NON_SYNONYMOUS_CODING ACOXL MODERATE|MISSENSE|cCc/cTc|P505L|580|ACOXL|protein_coding|CODING|ENST00000439055|exon_2_111850442_111850543 . 0/1:99:162,0,237 . . 2 111850515 rs17041850 C T NON_SYNONYMOUS_CODING ACOXL MODERATE|MISSENSE|cCc/cTc|P535L|547|ACOXL|protein_coding|CODING|ENST00000389811|exon_2_111850442_111850543 . 0/1:99:162,0,237 . . 2 112588975 rs147457004 G A NON_SYNONYMOUS_CODING ANAPC1 MODERATE|MISSENSE|aCg/aTg|T838M|1944|ANAPC1|protein_coding|CODING|ENST00000341068|exon_2_112588863_112589011 0/1:99:169,0,224 . . . 2 112786049 rs2230517 G A NON_SYNONYMOUS_CODING MERTK MODERATE|MISSENSE|Gtt/Att|V194I|256|MERTK|protein_coding|CODING|ENST00000449344|exon_2_112785928_112786240 0/1:99:255,0,200 . . . 2 112786049 rs2230517 G A NON_SYNONYMOUS_CODING MERTK MODERATE|MISSENSE|Gtt/Att|V529I|556|MERTK|protein_coding|CODING|ENST00000393237|exon_2_112785968_112786096 0/1:99:255,0,200 . . . 2 112786049 rs2230517 G A NON_SYNONYMOUS_CODING MERTK MODERATE|MISSENSE|Gtt/Att|V694I|823|MERTK|protein_coding|CODING|ENST00000409780|exon_2_112785928_112786944 0/1:99:255,0,200 . . . 2 112786049 rs2230517 G A NON_SYNONYMOUS_CODING MERTK MODERATE|MISSENSE|Gtt/Att|V870I|999|MERTK|protein_coding|CODING|ENST00000295408|exon_2_112785928_112787138 0/1:99:255,0,200 . . . 2 112786049 rs2230517 G A NON_SYNONYMOUS_CODING MERTK MODERATE|MISSENSE|Gtt/Att|V870I|999|MERTK|protein_coding|CODING|ENST00000421804|exon_2_112785928_112786870 0/1:99:255,0,200 . . . 2 113191010 rs13021601 A C NON_SYNONYMOUS_CODING RGPD8 MODERATE|MISSENSE|gaT/gaG|D7E|1765|RGPD8|protein_coding|CODING|ENST00000302558|exon_2_113190959_113191222 0/1:90:88,0,95 . . . 2 113191010 rs13021601 A C NON_SYNONYMOUS_CODING RGPD8 MODERATE|MISSENSE|gaT/gaG|D7E|904|RGPD8|protein_coding|CODING|ENST00000330575|exon_2_113190959_113191107 0/1:90:88,0,95 . . . 2 113765587 rs34817588 A T NON_SYNONYMOUS_CODING IL36A MODERATE|MISSENSE|aAc/aTc|N148I|158|IL36A|protein_coding|CODING|ENST00000259211|exon_2_113765409_113765621 . . . 0/1:99:255,0,226 2 113765587 rs34817588 A T NON_SYNONYMOUS_CODING IL36A MODERATE|MISSENSE|aAc/aTc|N33I|42|IL36A|protein_coding|CODING|ENST00000397653|exon_2_113765490_113765607 . . . 0/1:99:255,0,226 2 113958973 rs143129434 G A NON_SYNONYMOUS_CODING PSD4 MODERATE|MISSENSE|cGg/cAg|R1022Q|1027|PSD4|protein_coding|CODING|ENST00000441564|exon_2_113958735_113960494 . 0/1:99:255,0,241 . . 2 113958973 rs143129434 G A NON_SYNONYMOUS_CODING PSD4 MODERATE|MISSENSE|cGg/cAg|R1051Q|1056|PSD4|protein_coding|CODING|ENST00000245796|exon_2_113958735_113960814 . 0/1:99:255,0,241 . . 2 114257319 rs141841883 C G NON_SYNONYMOUS_CODING FOXD4L1 MODERATE|MISSENSE|aaC/aaG|N162K|408|FOXD4L1|protein_coding|CODING|ENST00000306507|exon_2_114256661_114258728 . . 0/1:51:238,0,48 . 2 114257590 rs200085244 G C NON_SYNONYMOUS_CODING FOXD4L1 MODERATE|MISSENSE|Gcc/Ccc|A253P|408|FOXD4L1|protein_coding|CODING|ENST00000306507|exon_2_114256661_114258728 . . . 0/1:68:65,0,123 2 116593754 . T G NON_SYNONYMOUS_CODING DPP10 MODERATE|MISSENSE|Tca/Gca|S608A|746|DPP10|protein_coding|CODING|ENST00000409163|exon_2_116593733_116593832 . . . 0/1:99:152,0,255 2 116593754 . T G NON_SYNONYMOUS_CODING DPP10 MODERATE|MISSENSE|Tca/Gca|S651A|789|DPP10|protein_coding|CODING|ENST00000310323|exon_2_116593733_116593832 . . . 0/1:99:152,0,255 2 116593754 . T G NON_SYNONYMOUS_CODING DPP10 MODERATE|MISSENSE|Tca/Gca|S658A|796|DPP10|protein_coding|CODING|ENST00000410059|exon_2_116593733_116593832 . . . 0/1:99:152,0,255 2 116593754 . T G NON_SYNONYMOUS_CODING DPP10 MODERATE|MISSENSE|Tca/Gca|S662A|800|DPP10|protein_coding|CODING|ENST00000393147|exon_2_116593733_116593832 . . . 0/1:99:152,0,255 2 118732831 rs17512204 G A NON_SYNONYMOUS_CODING CCDC93 MODERATE|MISSENSE|cCa/cTa|P227L|630|CCDC93|protein_coding|CODING|ENST00000319432|exon_2_118732764_118732856 . . . 0/1:99:244,0,255 2 118732831 rs17512204 G A NON_SYNONYMOUS_CODING CCDC93 MODERATE|MISSENSE|cCa/cTa|P228L|631|CCDC93|protein_coding|CODING|ENST00000376300|exon_2_118732764_118732856 . . . 0/1:99:244,0,255 2 119739786 rs147907250 G T NON_SYNONYMOUS_CODING MARCO MODERATE|MISSENSE|gGt/gTt|G241V|442|MARCO|protein_coding|CODING|ENST00000541757|exon_2_119739732_119739830 . . 0/1:99:233,0,190 . 2 119739786 rs147907250 G T NON_SYNONYMOUS_CODING MARCO MODERATE|MISSENSE|gGt/gTt|G319V|466|MARCO|protein_coding|CODING|ENST00000410021|exon_2_119739732_119739830 . . 0/1:99:233,0,190 . 2 119739786 rs147907250 G T NON_SYNONYMOUS_CODING MARCO MODERATE|MISSENSE|gGt/gTt|G319V|520|MARCO|protein_coding|CODING|ENST00000327097|exon_2_119739732_119739830 . . 0/1:99:233,0,190 . 2 120413984 rs116625089 C G NON_SYNONYMOUS_CODING AC069154.2.1 MODERATE|MISSENSE|Ctg/Gtg|L535V|554|AC069154.2.1|protein_coding|CODING|ENST00000295220|exon_2_120413938_120414237 . . 0/1:99:255,0,207 . 2 120413984 rs116625089 C G NON_SYNONYMOUS_CODING AC069154.2.1 MODERATE|MISSENSE|Ctg/Gtg|L821V|840|AC069154.2.1|protein_coding|CODING|ENST00000413369|exon_2_120413938_120414236 . . 0/1:99:255,0,207 . 2 120848049 rs28930677 C T NON_SYNONYMOUS_CODING EPB41L5 MODERATE|MISSENSE|Cat/Tat|H334Y|505|EPB41L5|protein_coding|CODING|ENST00000331393|exon_2_120847923_120848092 . . 0/1:99:255,0,255 0/1:99:236,0,255 2 120848049 rs28930677 C T NON_SYNONYMOUS_CODING EPB41L5 MODERATE|MISSENSE|Cat/Tat|H334Y|505|EPB41L5|protein_coding|CODING|ENST00000443124|exon_2_120847923_120848092 . . 0/1:99:255,0,255 0/1:99:236,0,255 2 120848049 rs28930677 C T NON_SYNONYMOUS_CODING EPB41L5 MODERATE|MISSENSE|Cat/Tat|H334Y|687|EPB41L5|protein_coding|CODING|ENST00000443902|exon_2_120847923_120848092 . . 0/1:99:255,0,255 0/1:99:236,0,255 2 120848049 rs28930677 C T NON_SYNONYMOUS_CODING EPB41L5 MODERATE|MISSENSE|Cat/Tat|H334Y|732|EPB41L5|protein_coding|CODING|ENST00000452780|exon_2_120847923_120848092 . . 0/1:99:255,0,255 0/1:99:236,0,255 2 120848049 rs28930677 C T NON_SYNONYMOUS_CODING EPB41L5 MODERATE|MISSENSE|Cat/Tat|H334Y|733|EPB41L5|protein_coding|CODING|ENST00000263713|exon_2_120847923_120848092 . . 0/1:99:255,0,255 0/1:99:236,0,255 2 120922485 rs115833267 A T NON_SYNONYMOUS_CODING EPB41L5 MODERATE|MISSENSE|cAg/cTg|Q654L|687|EPB41L5|protein_coding|CODING|ENST00000443902|exon_2_120922412_120922486 . 0/1:99:255,0,139 . . 2 120922485 rs115833267 A T NON_SYNONYMOUS_CODING EPB41L5 MODERATE|MISSENSE|cAg/cTg|Q654L|732|EPB41L5|protein_coding|CODING|ENST00000452780|exon_2_120922412_120922486 . 0/1:99:255,0,139 . . 2 120922485 rs115833267 A T NON_SYNONYMOUS_CODING EPB41L5 MODERATE|MISSENSE|cAg/cTg|Q654L|733|EPB41L5|protein_coding|CODING|ENST00000263713|exon_2_120922412_120922486 . 0/1:99:255,0,139 . . 2 121744084 rs151179617 C A NON_SYNONYMOUS_CODING GLI2 MODERATE|MISSENSE|ttC/ttA|F401L|829|GLI2|protein_coding|CODING|ENST00000314490|exon_2_121743854_121744190 0/1:99:227,0,191 . . . 2 121744084 rs151179617 C A NON_SYNONYMOUS_CODING GLI2 MODERATE|MISSENSE|ttC/ttA|F729L|1586|GLI2|protein_coding|CODING|ENST00000361492|exon_2_121743854_121744190 0/1:99:227,0,191 . . . 2 121744084 rs151179617 C A NON_SYNONYMOUS_CODING GLI2 MODERATE|MISSENSE|ttC/ttA|F729L|1586|GLI2|protein_coding|CODING|ENST00000452319|exon_2_121743854_121744190 0/1:99:227,0,191 . . . 2 121746950 rs200999705 G A NON_SYNONYMOUS_CODING GLI2 MODERATE|MISSENSE|Gta/Ata|V1154I|1586|GLI2|protein_coding|CODING|ENST00000361492|exon_2_121745784_121750228 0/1:99:228,0,190 . . . 2 121746950 rs200999705 G A NON_SYNONYMOUS_CODING GLI2 MODERATE|MISSENSE|Gta/Ata|V1154I|1586|GLI2|protein_coding|CODING|ENST00000452319|exon_2_121745784_121750229 0/1:99:228,0,190 . . . 2 121748050 rs148902971 T G NON_SYNONYMOUS_CODING GLI2 MODERATE|MISSENSE|gaT/gaG|D1520E|1586|GLI2|protein_coding|CODING|ENST00000361492|exon_2_121745784_121750228 0/1:99:226,0,194 . . . 2 121748050 rs148902971 T G NON_SYNONYMOUS_CODING GLI2 MODERATE|MISSENSE|gaT/gaG|D1520E|1586|GLI2|protein_coding|CODING|ENST00000452319|exon_2_121745784_121750229 0/1:99:226,0,194 . . . 2 122038783 rs36096257 G A NON_SYNONYMOUS_CODING TFCP2L1 MODERATE|MISSENSE|Cgc/Tgc|R43C|479|TFCP2L1|protein_coding|CODING|ENST00000263707|exon_2_122038696_122038847 0/1:99:227,0,183 . . . 2 122485904 . G A NON_SYNONYMOUS_CODING MKI67IP MODERATE|MISSENSE|tCa/tTa|S113L|163|MKI67IP|protein_coding|CODING|ENST00000447132|exon_2_122485864_122485932 . . 0/1:99:255,0,255 . 2 122485904 . G A NON_SYNONYMOUS_CODING MKI67IP MODERATE|MISSENSE|tCa/tTa|S218L|293|MKI67IP|protein_coding|CODING|ENST00000285814|exon_2_122485864_122485932 . . 0/1:99:255,0,255 . 2 122485904 . G A NON_SYNONYMOUS_CODING MKI67IP MODERATE|MISSENSE|tCa/tTa|S27L|102|MKI67IP|protein_coding|CODING|ENST00000423105|exon_2_122485864_122485932 . . 0/1:99:255,0,255 . 2 125204353 . A C NON_SYNONYMOUS_CODING CNTNAP5 MODERATE|MISSENSE|Agc/Cgc|S253R|1306|CNTNAP5|protein_coding|CODING|ENST00000431078|exon_2_125204330_125204514 . 0/1:99:219,0,255 . . 2 127451514 rs111631066 G A NON_SYNONYMOUS_CODING GYPC MODERATE|MISSENSE|Gtc/Atc|V40I|107|GYPC|protein_coding|CODING|ENST00000356887|exon_2_127451440_127451523 . . 0/1:99:216,0,254 . 2 127451514 rs111631066 G A NON_SYNONYMOUS_CODING GYPC MODERATE|MISSENSE|Gtc/Atc|V42I|109|GYPC|protein_coding|CODING|ENST00000409836|exon_2_127451440_127451523 . . 0/1:99:216,0,254 . 2 127451514 rs111631066 G A NON_SYNONYMOUS_CODING GYPC MODERATE|MISSENSE|Gtc/Atc|V61I|128|GYPC|protein_coding|CODING|ENST00000259254|exon_2_127451440_127451523 . . 0/1:99:216,0,254 . 2 128379563 rs61744148 C G NON_SYNONYMOUS_CODING MYO7B MODERATE|MISSENSE|Ctg/Gtg|L1152V|2116|MYO7B|protein_coding|CODING|ENST00000409816|exon_2_128379557_128379676 . 1/1:99:255,69,0 . 0/1:99:193,0,233 2 128379563 rs61744148 C G NON_SYNONYMOUS_CODING MYO7B MODERATE|MISSENSE|Ctg/Gtg|L1152V|2116|MYO7B|protein_coding|CODING|ENST00000428314|exon_2_128379557_128379676 . 1/1:99:255,69,0 . 0/1:99:193,0,233 2 128379563 rs61744148 C G NON_SYNONYMOUS_CODING MYO7B MODERATE|MISSENSE|Ctg/Gtg|L1152V|2117|MYO7B|protein_coding|CODING|ENST00000389524|exon_2_128379557_128379676 . 1/1:99:255,69,0 . 0/1:99:193,0,233 2 128379563 rs61744148 C G NON_SYNONYMOUS_CODING MYO7B MODERATE|MISSENSE|Ctg/Gtg|L5V|175|MYO7B|protein_coding|CODING|ENST00000437387|exon_2_128379557_128379676 . 1/1:99:255,69,0 . 0/1:99:193,0,233 2 128379563 rs61744148 C G NON_SYNONYMOUS_CODING MYO7B MODERATE|MISSENSE|Ctg/Gtg|L5V|960|MYO7B|protein_coding|CODING|ENST00000272666|exon_2_128379557_128379676 . 1/1:99:255,69,0 . 0/1:99:193,0,233 2 128379563 rs61744148 C G NON_SYNONYMOUS_CODING MYO7B MODERATE|MISSENSE|Ctg/Gtg|L5V|969|MYO7B|protein_coding|CODING|ENST00000409090|exon_2_128379557_128379676 . 1/1:99:255,69,0 . 0/1:99:193,0,233 2 128385244 rs58961411 T C NON_SYNONYMOUS_CODING MYO7B MODERATE|MISSENSE|Tgg/Cgg|W390R|960|MYO7B|protein_coding|CODING|ENST00000272666|exon_2_128385041_128385270 . 1/1:99:255,66,0 . 0/1:99:206,0,255 2 128385340 rs79948094 C A NON_SYNONYMOUS_CODING MYO7B MODERATE|MISSENSE|tCt/tAt|S408Y|960|MYO7B|protein_coding|CODING|ENST00000272666|exon_2_128385312_128385388 . . 0/1:99:181,0,255 . 2 128388437 rs138651379 A C NON_SYNONYMOUS_CODING MYO7B MODERATE|MISSENSE|Aag/Cag|K1605Q|2116|MYO7B|protein_coding|CODING|ENST00000409816|exon_2_128388353_128388483 0/1:99:200,0,183 . . . 2 128388437 rs138651379 A C NON_SYNONYMOUS_CODING MYO7B MODERATE|MISSENSE|Aag/Cag|K1605Q|2116|MYO7B|protein_coding|CODING|ENST00000428314|exon_2_128388353_128388483 0/1:99:200,0,183 . . . 2 128388437 rs138651379 A C NON_SYNONYMOUS_CODING MYO7B MODERATE|MISSENSE|Aag/Cag|K1605Q|2117|MYO7B|protein_coding|CODING|ENST00000389524|exon_2_128388353_128388483 0/1:99:200,0,183 . . . 2 128388437 rs138651379 A C NON_SYNONYMOUS_CODING MYO7B MODERATE|MISSENSE|Aag/Cag|K458Q|969|MYO7B|protein_coding|CODING|ENST00000409090|exon_2_128388353_128388483 0/1:99:200,0,183 . . . 2 128388437 rs138651379 A C NON_SYNONYMOUS_CODING MYO7B MODERATE|MISSENSE|Aag/Cag|K700Q|960|MYO7B|protein_coding|CODING|ENST00000272666|exon_2_128388353_128388483 0/1:99:200,0,183 . . . 2 130832598 rs3948036 C T NON_SYNONYMOUS_CODING POTEF MODERATE|MISSENSE|cGc/cAc|R816H|1075|POTEF|protein_coding|CODING|ENST00000357462|exon_2_130831108_130833145 . 0/1:80:77,0,245 . . 2 130832598 rs3948036 C T NON_SYNONYMOUS_CODING POTEF MODERATE|MISSENSE|cGc/cAc|R816H|1075|POTEF|protein_coding|CODING|ENST00000409914|exon_2_130831603_130833145 . 0/1:80:77,0,245 . . 2 130939163 rs146359515 G T NON_SYNONYMOUS_CODING SMPD4 MODERATE|MISSENSE|ttC/ttA|F4L|615|SMPD4|protein_coding|CODING|ENST00000453750|exon_2_130939103_130939174 . . 0/1:99:245,0,171 . 2 130939163 rs146359515 G T NON_SYNONYMOUS_CODING SMPD4 MODERATE|MISSENSE|ttC/ttA|F4L|764|SMPD4|protein_coding|CODING|ENST00000431183|exon_2_130939103_130940323 . . 0/1:99:245,0,171 . 2 130939163 rs146359515 G T NON_SYNONYMOUS_CODING SMPD4 MODERATE|MISSENSE|ttC/ttA|F4L|837|SMPD4|protein_coding|CODING|ENST00000351288|exon_2_130939103_130939174 . . 0/1:99:245,0,171 . 2 130939163 rs146359515 G T NON_SYNONYMOUS_CODING SMPD4 MODERATE|MISSENSE|ttC/ttA|F4L|866|SMPD4|protein_coding|CODING|ENST00000409031|exon_2_130939103_130940323 . . 0/1:99:245,0,171 . 2 131097236 rs74765462 G A NON_SYNONYMOUS_CODING CCDC115 MODERATE|MISSENSE|cCg/cTg|P172L|188|CCDC115|protein_coding|CODING|ENST00000437688|exon_2_131097133_131097335 0/1:99:180,0,247 . . . 2 131303879 . T C NON_SYNONYMOUS_CODING AC013269.5.1 MODERATE|MISSENSE|cAt/cGt|H29R|149|AC013269.5.1|protein_coding|CODING|ENST00000409259|exon_2_131303766_131304040 . 1/1:10:53,6,0 . . 2 131522113 . G A NON_SYNONYMOUS_CODING FAM123C MODERATE|MISSENSE|gGg/gAg|G823E|861|FAM123C|protein_coding|CODING|ENST00000321420|exon_2_131519627_131522659 . 0/1:99:205,0,201 . . 2 131522113 . G A NON_SYNONYMOUS_CODING FAM123C MODERATE|MISSENSE|gGg/gAg|G823E|861|FAM123C|protein_coding|CODING|ENST00000423981|exon_2_131519627_131525707 . 0/1:99:205,0,201 . . 2 131769448 rs35437121 C T NON_SYNONYMOUS_CODING ARHGEF4 MODERATE|MISSENSE|Cgg/Tgg|R61W|619|ARHGEF4|protein_coding|CODING|ENST00000355771|exon_2_131769256_131769481 . 0/1:99:145,0,223 . . 2 131985945 rs201348719 A G NON_SYNONYMOUS_CODING AC131180.1 MODERATE|MISSENSE|cAt/cGt|H349R|1075|AC131180.1|protein_coding|CODING|ENST00000356920|exon_2_131985817_131985954 . 0/1:87:84,0,105 . . 2 131985945 rs201348719 A G NON_SYNONYMOUS_CODING AC131180.1 MODERATE|MISSENSE|cAt/cGt|H359R|394|AC131180.1|protein_coding|CODING|ENST00000358087|exon_2_131985817_131985954 . 0/1:87:84,0,105 . . 2 132021023 rs201534564 G A NON_SYNONYMOUS_CODING AC131180.1 MODERATE|MISSENSE|atG/atA|M665I|1075|AC131180.1|protein_coding|CODING|ENST00000356920|exon_2_132020928_132022965 . 0/1:99:99,0,154 . . 2 132044746 rs76191423 C A NON_SYNONYMOUS_CODING CYP4F31P MODERATE|MISSENSE|gCc/gAc|A22D|118|CYP4F31P|protein_coding|CODING|ENST00000416266|exon_2_132044330_132045143 . 0/1:68:65,0,237 . . 2 132044787 rs112500726 G A NON_SYNONYMOUS_CODING CYP4F31P MODERATE|MISSENSE|Gtg/Atg|V36M|118|CYP4F31P|protein_coding|CODING|ENST00000416266|exon_2_132044330_132045143 0/1:78:75,0,255 0/1:99:129,0,255 . 0/1:54:51,0,255 2 132044797 rs202043310 C A NON_SYNONYMOUS_CODING CYP4F31P MODERATE|MISSENSE|gCc/gAc|A39D|118|CYP4F31P|protein_coding|CODING|ENST00000416266|exon_2_132044330_132045143 0/1:75:72,0,255 0/1:99:132,0,255 . . 2 132287569 rs140791204 G A NON_SYNONYMOUS_CODING CCDC74A MODERATE|MISSENSE|Gac/Aac|D7N|330|CCDC74A|protein_coding|CODING|ENST00000467992|exon_2_132287237_132288400 . . 1/1:99:255,56,0 . 2 132290621 rs71428594 C T NON_SYNONYMOUS_CODING CCDC74A MODERATE|MISSENSE|aCc/aTc|T263I|312|CCDC74A|protein_coding|CODING|ENST00000409856|exon_2_132290586_132290642 0/1:99:141,0,131 . . . 2 132290621 rs71428594 C T NON_SYNONYMOUS_CODING CCDC74A MODERATE|MISSENSE|aCc/aTc|T329I|378|CCDC74A|protein_coding|CODING|ENST00000295171|exon_2_132290586_132290642 0/1:99:141,0,131 . . . 2 133540605 rs13016342 G T NON_SYNONYMOUS_CODING NCKAP5 MODERATE|MISSENSE|cCa/cAa|P1260Q|1909|NCKAP5|protein_coding|CODING|ENST00000317721|exon_2_133539513_133543291 . . . 1/1:99:255,60,0 2 133540605 rs13016342 G T NON_SYNONYMOUS_CODING NCKAP5 MODERATE|MISSENSE|cCa/cAa|P1260Q|1909|NCKAP5|protein_coding|CODING|ENST00000409261|exon_2_133539513_133543291 . . . 1/1:99:255,60,0 2 133540714 rs72847214 G A NON_SYNONYMOUS_CODING NCKAP5 MODERATE|MISSENSE|Ccc/Tcc|P1224S|1909|NCKAP5|protein_coding|CODING|ENST00000317721|exon_2_133539513_133543291 . 0/1:99:225,0,255 . . 2 133540714 rs72847214 G A NON_SYNONYMOUS_CODING NCKAP5 MODERATE|MISSENSE|Ccc/Tcc|P1224S|1909|NCKAP5|protein_coding|CODING|ENST00000409261|exon_2_133539513_133543291 . 0/1:99:225,0,255 . . 2 133542585 rs17325719 C G NON_SYNONYMOUS_CODING NCKAP5 MODERATE|MISSENSE|aGt/aCt|S600T|1909|NCKAP5|protein_coding|CODING|ENST00000317721|exon_2_133539513_133543291 . . . 1/1:99:255,87,0 2 133542585 rs17325719 C G NON_SYNONYMOUS_CODING NCKAP5 MODERATE|MISSENSE|aGt/aCt|S600T|1909|NCKAP5|protein_coding|CODING|ENST00000409261|exon_2_133539513_133543291 . . . 1/1:99:255,87,0 2 135740863 rs79960383 C A NON_SYNONYMOUS_CODING YSK4 MODERATE|MISSENSE|caG/caT|Q1104H|1152|YSK4|protein_coding|CODING|ENST00000392915|exon_2_135740750_135740901 0/1:99:255,0,215 . . . 2 135744007 rs3905317 T C NON_SYNONYMOUS_CODING YSK4 MODERATE|MISSENSE|gAa/gGa|E202G|697|YSK4|protein_coding|CODING|ENST00000437365|exon_2_135743370_135744611 0/1:99:255,0,255 . . . 2 135744007 rs3905317 T C NON_SYNONYMOUS_CODING YSK4 MODERATE|MISSENSE|gAa/gGa|E699G|1215|YSK4|protein_coding|CODING|ENST00000358371|exon_2_135743370_135745823 0/1:99:255,0,255 . . . 2 135744007 rs3905317 T C NON_SYNONYMOUS_CODING YSK4 MODERATE|MISSENSE|gAa/gGa|E812G|1328|YSK4|protein_coding|CODING|ENST00000375845|exon_2_135743370_135745823 0/1:99:255,0,255 . . . 2 135744007 rs3905317 T C NON_SYNONYMOUS_CODING YSK4 MODERATE|MISSENSE|gAa/gGa|E829G|1152|YSK4|protein_coding|CODING|ENST00000392915|exon_2_135743370_135745823 0/1:99:255,0,255 . . . 2 135744416 rs1112542 C G NON_SYNONYMOUS_CODING YSK4 MODERATE|MISSENSE|Gag/Cag|E563Q|1215|YSK4|protein_coding|CODING|ENST00000358371|exon_2_135743370_135745823 0/1:99:255,0,255 . . . 2 135744416 rs1112542 C G NON_SYNONYMOUS_CODING YSK4 MODERATE|MISSENSE|Gag/Cag|E66Q|697|YSK4|protein_coding|CODING|ENST00000437365|exon_2_135743370_135744611 0/1:99:255,0,255 . . . 2 135744416 rs1112542 C G NON_SYNONYMOUS_CODING YSK4 MODERATE|MISSENSE|Gag/Cag|E676Q|1328|YSK4|protein_coding|CODING|ENST00000375845|exon_2_135743370_135745823 0/1:99:255,0,255 . . . 2 135744416 rs1112542 C G NON_SYNONYMOUS_CODING YSK4 MODERATE|MISSENSE|Gag/Cag|E693Q|1152|YSK4|protein_coding|CODING|ENST00000392915|exon_2_135743370_135745823 0/1:99:255,0,255 . . . 2 135745129 rs16831235 G A NON_SYNONYMOUS_CODING YSK4 MODERATE|MISSENSE|aCt/aTt|T325I|1215|YSK4|protein_coding|CODING|ENST00000358371|exon_2_135743370_135745823 0/1:99:255,0,255 . . . 2 135745129 rs16831235 G A NON_SYNONYMOUS_CODING YSK4 MODERATE|MISSENSE|aCt/aTt|T438I|1328|YSK4|protein_coding|CODING|ENST00000375845|exon_2_135743370_135745823 0/1:99:255,0,255 . . . 2 135745129 rs16831235 G A NON_SYNONYMOUS_CODING YSK4 MODERATE|MISSENSE|aCt/aTt|T455I|1152|YSK4|protein_coding|CODING|ENST00000392915|exon_2_135743370_135745823 0/1:99:255,0,255 . . . 2 135988127 rs59900519 T A NON_SYNONYMOUS_CODING ZRANB3 MODERATE|MISSENSE|gAg/gTg|E102V|597|ZRANB3|protein_coding|CODING|ENST00000538542|exon_2_135988083_135988518 0/1:99:255,0,213 . . . 2 135988127 rs59900519 T A NON_SYNONYMOUS_CODING ZRANB3 MODERATE|MISSENSE|gAg/gTg|E102V|598|ZRANB3|protein_coding|CODING|ENST00000283060|exon_2_135988083_135988497 0/1:99:255,0,213 . . . 2 135988127 rs59900519 T A NON_SYNONYMOUS_CODING ZRANB3 MODERATE|MISSENSE|gAg/gTg|E637V|1077|ZRANB3|protein_coding|CODING|ENST00000401392|exon_2_135988083_135988497 0/1:99:255,0,213 . . . 2 135988127 rs59900519 T A NON_SYNONYMOUS_CODING ZRANB3 MODERATE|MISSENSE|gAg/gTg|E637V|1077|ZRANB3|protein_coding|CODING|ENST00000536680|exon_2_135988083_135988497 0/1:99:255,0,213 . . . 2 135988127 rs59900519 T A NON_SYNONYMOUS_CODING ZRANB3 MODERATE|MISSENSE|gAg/gTg|E637V|1079|ZRANB3|protein_coding|CODING|ENST00000264159|exon_2_135988083_135988497 0/1:99:255,0,213 . . . 2 135988416 rs935615 C T NON_SYNONYMOUS_CODING ZRANB3 MODERATE|MISSENSE|Gaa/Aaa|E541K|1077|ZRANB3|protein_coding|CODING|ENST00000401392|exon_2_135988083_135988497 0/1:99:212,0,255 . . . 2 135988416 rs935615 C T NON_SYNONYMOUS_CODING ZRANB3 MODERATE|MISSENSE|Gaa/Aaa|E541K|1077|ZRANB3|protein_coding|CODING|ENST00000536680|exon_2_135988083_135988497 0/1:99:212,0,255 . . . 2 135988416 rs935615 C T NON_SYNONYMOUS_CODING ZRANB3 MODERATE|MISSENSE|Gaa/Aaa|E541K|1079|ZRANB3|protein_coding|CODING|ENST00000264159|exon_2_135988083_135988497 0/1:99:212,0,255 . . . 2 135988416 rs935615 C T NON_SYNONYMOUS_CODING ZRANB3 MODERATE|MISSENSE|Gaa/Aaa|E6K|597|ZRANB3|protein_coding|CODING|ENST00000538542|exon_2_135988083_135988518 0/1:99:212,0,255 . . . 2 135988416 rs935615 C T NON_SYNONYMOUS_CODING ZRANB3 MODERATE|MISSENSE|Gaa/Aaa|E6K|598|ZRANB3|protein_coding|CODING|ENST00000283060|exon_2_135988083_135988497 0/1:99:212,0,255 . . . 2 136029457 rs151301223 T C NON_SYNONYMOUS_CODING ZRANB3 MODERATE|MISSENSE|Act/Gct|T303A|368|ZRANB3|protein_coding|CODING|ENST00000397448|exon_2_136029338_136029457 0/1:99:255,0,255 . . . 2 136029457 rs151301223 T C NON_SYNONYMOUS_CODING ZRANB3 MODERATE|MISSENSE|Act/Gct|T363A|1077|ZRANB3|protein_coding|CODING|ENST00000401392|exon_2_136029338_136029457 0/1:99:255,0,255 . . . 2 136029457 rs151301223 T C NON_SYNONYMOUS_CODING ZRANB3 MODERATE|MISSENSE|Act/Gct|T363A|1077|ZRANB3|protein_coding|CODING|ENST00000536680|exon_2_136029338_136029457 0/1:99:255,0,255 . . . 2 136029457 rs151301223 T C NON_SYNONYMOUS_CODING ZRANB3 MODERATE|MISSENSE|Act/Gct|T363A|1079|ZRANB3|protein_coding|CODING|ENST00000264159|exon_2_136029338_136029457 0/1:99:255,0,255 . . . 2 136107777 rs61744510 G A NON_SYNONYMOUS_CODING ZRANB3 MODERATE|MISSENSE|tCg/tTg|S123L|1077|ZRANB3|protein_coding|CODING|ENST00000401392|exon_2_136107554_136107785 0/1:99:255,0,255 . . . 2 136107777 rs61744510 G A NON_SYNONYMOUS_CODING ZRANB3 MODERATE|MISSENSE|tCg/tTg|S123L|1077|ZRANB3|protein_coding|CODING|ENST00000536680|exon_2_136107554_136107785 0/1:99:255,0,255 . . . 2 136107777 rs61744510 G A NON_SYNONYMOUS_CODING ZRANB3 MODERATE|MISSENSE|tCg/tTg|S123L|1079|ZRANB3|protein_coding|CODING|ENST00000264159|exon_2_136107554_136107785 0/1:99:255,0,255 . . . 2 136107777 rs61744510 G A NON_SYNONYMOUS_CODING ZRANB3 MODERATE|MISSENSE|tCg/tTg|S63L|368|ZRANB3|protein_coding|CODING|ENST00000397448|exon_2_136107554_136107785 0/1:99:255,0,255 . . . 2 136409574 rs2305165 A C NON_SYNONYMOUS_CODING R3HDM1 MODERATE|MISSENSE|cAg/cCg|Q503P|970|R3HDM1|protein_coding|CODING|ENST00000329971|exon_2_136409303_136409602 0/1:99:239,0,241 . . . 2 136409574 rs2305165 A C NON_SYNONYMOUS_CODING R3HDM1 MODERATE|MISSENSE|cAg/cCg|Q504P|971|R3HDM1|protein_coding|CODING|ENST00000409478|exon_2_136409300_136409602 0/1:99:239,0,241 . . . 2 136409574 rs2305165 A C NON_SYNONYMOUS_CODING R3HDM1 MODERATE|MISSENSE|cAg/cCg|Q577P|1044|R3HDM1|protein_coding|CODING|ENST00000410054|exon_2_136409300_136409602 0/1:99:239,0,241 . . . 2 136409574 rs2305165 A C NON_SYNONYMOUS_CODING R3HDM1 MODERATE|MISSENSE|cAg/cCg|Q632P|1099|R3HDM1|protein_coding|CODING|ENST00000264160|exon_2_136409303_136409602 0/1:99:239,0,241 . . . 2 136409574 rs2305165 A C NON_SYNONYMOUS_CODING R3HDM1 MODERATE|MISSENSE|cAg/cCg|Q633P|1100|R3HDM1|protein_coding|CODING|ENST00000409606|exon_2_136409300_136409602 0/1:99:239,0,241 . . . 2 136590746 rs3754689 C T NON_SYNONYMOUS_CODING LCT MODERATE|MISSENSE|Gtt/Att|V219I|1927|LCT|protein_coding|CODING|ENST00000264162|exon_2_136590681_136590760 0/1:99:212,0,209 . . . 2 137928320 rs61746979 C T NON_SYNONYMOUS_CODING THSD7B MODERATE|MISSENSE|aCg/aTg|T481M|1578|THSD7B|protein_coding|CODING|ENST00000413152|exon_2_137928311_137928508 . . 0/1:99:255,0,255 . 2 137928320 rs61746979 C T NON_SYNONYMOUS_CODING THSD7B MODERATE|MISSENSE|aCg/aTg|T512M|1606|THSD7B|protein_coding|CODING|ENST00000409968|exon_2_137928311_137928508 . . 0/1:99:255,0,255 . 2 137928320 rs61746979 C T NON_SYNONYMOUS_CODING THSD7B MODERATE|MISSENSE|aCg/aTg|T512M|1609|THSD7B|protein_coding|CODING|ENST00000272643|exon_2_137928311_137928508 . . 0/1:99:255,0,255 . 2 138759649 rs1801105 C T NON_SYNONYMOUS_CODING HNMT MODERATE|MISSENSE|aCa/aTa|T105I|292|HNMT|protein_coding|CODING|ENST00000280097|exon_2_138759634_138759764 0/1:99:255,0,255 0/1:99:255,0,178 . . 2 138759649 rs1801105 C T NON_SYNONYMOUS_CODING HNMT MODERATE|MISSENSE|aCa/aTa|T105I|292|HNMT|protein_coding|CODING|ENST00000410115|exon_2_138759634_138759764 0/1:99:255,0,255 0/1:99:255,0,178 . . 2 140992440 rs143263597 C T NON_SYNONYMOUS_CODING LRP1B MODERATE|MISSENSE|gGg/gAg|G4463E|4537|LRP1B|protein_coding|CODING|ENST00000544579|exon_2_140992355_140992453 . 0/1:99:255,0,255 . . 2 140992440 rs143263597 C T NON_SYNONYMOUS_CODING LRP1B MODERATE|MISSENSE|gGg/gAg|G4525E|4599|LRP1B|protein_coding|CODING|ENST00000389484|exon_2_140992355_140992453 . 0/1:99:255,0,255 . . 2 141116447 rs35546150 G T NON_SYNONYMOUS_CODING LRP1B MODERATE|MISSENSE|Caa/Aaa|Q3672K|4537|LRP1B|protein_coding|CODING|ENST00000544579|exon_2_141116390_141116515 0/1:99:255,0,255 . . . 2 141116447 rs35546150 G T NON_SYNONYMOUS_CODING LRP1B MODERATE|MISSENSE|Caa/Aaa|Q3734K|4599|LRP1B|protein_coding|CODING|ENST00000389484|exon_2_141116390_141116515 0/1:99:255,0,255 . . . 2 148710067 . T G NON_SYNONYMOUS_CODING ORC4 MODERATE|MISSENSE|Atc/Ctc|I155L|436|ORC4|protein_coding|CODING|ENST00000264169|exon_2_148709942_148710093 0/1:99:255,0,226 . . . 2 148710067 . T G NON_SYNONYMOUS_CODING ORC4 MODERATE|MISSENSE|Atc/Ctc|I155L|436|ORC4|protein_coding|CODING|ENST00000392857|exon_2_148709942_148710093 0/1:99:255,0,226 . . . 2 148710067 . T G NON_SYNONYMOUS_CODING ORC4 MODERATE|MISSENSE|Atc/Ctc|I155L|436|ORC4|protein_coding|CODING|ENST00000392858|exon_2_148709942_148710093 0/1:99:255,0,226 . . . 2 148710067 . T G NON_SYNONYMOUS_CODING ORC4 MODERATE|MISSENSE|Atc/Ctc|I155L|436|ORC4|protein_coding|CODING|ENST00000535373|exon_2_148709942_148710093 0/1:99:255,0,226 . . . 2 148710067 . T G NON_SYNONYMOUS_CODING ORC4 MODERATE|MISSENSE|Atc/Ctc|I71L|352|ORC4|protein_coding|CODING|ENST00000536575|exon_2_148709942_148710093 0/1:99:255,0,226 . . . 2 148710067 . T G NON_SYNONYMOUS_CODING ORC4 MODERATE|MISSENSE|Atc/Ctc|I81L|362|ORC4|protein_coding|CODING|ENST00000540442|exon_2_148709942_148710093 0/1:99:255,0,226 . . . 2 152117957 rs2271813 T C NON_SYNONYMOUS_CODING RBM43 MODERATE|MISSENSE|Agg/Ggg|R24G|68|RBM43|protein_coding|CODING|ENST00000409092|exon_2_152117499_152118023 1/1:99:255,75,0 0/1:99:244,0,227 . . 2 152220510 rs75961064 A G NON_SYNONYMOUS_CODING TNFAIP6 MODERATE|MISSENSE|Acc/Gcc|T50A|277|TNFAIP6|protein_coding|CODING|ENST00000243347|exon_2_152220457_152220594 . . 0/1:99:215,0,255 . 2 152226570 rs1046668 A G NON_SYNONYMOUS_CODING TNFAIP6 MODERATE|MISSENSE|cAa/cGa|Q144R|277|TNFAIP6|protein_coding|CODING|ENST00000243347|exon_2_152226534_152226762 . . 0/1:99:255,0,255 . 2 152311612 rs61750444 A G NON_SYNONYMOUS_CODING RIF1 MODERATE|MISSENSE|Atg/Gtg|M850V|2446|RIF1|protein_coding|CODING|ENST00000428287|exon_2_152311409_152311673 . 0/1:99:255,0,255 . . 2 152311612 rs61750444 A G NON_SYNONYMOUS_CODING RIF1 MODERATE|MISSENSE|Atg/Gtg|M850V|2446|RIF1|protein_coding|CODING|ENST00000430328|exon_2_152311409_152311673 . 0/1:99:255,0,255 . . 2 152311612 rs61750444 A G NON_SYNONYMOUS_CODING RIF1 MODERATE|MISSENSE|Atg/Gtg|M850V|2446|RIF1|protein_coding|CODING|ENST00000453091|exon_2_152311409_152311673 . 0/1:99:255,0,255 . . 2 152311612 rs61750444 A G NON_SYNONYMOUS_CODING RIF1 MODERATE|MISSENSE|Atg/Gtg|M850V|2472|RIF1|protein_coding|CODING|ENST00000243326|exon_2_152311409_152311673 . 0/1:99:255,0,255 . . 2 152311612 rs61750444 A G NON_SYNONYMOUS_CODING RIF1 MODERATE|MISSENSE|Atg/Gtg|M850V|2472|RIF1|protein_coding|CODING|ENST00000444746|exon_2_152311409_152311673 . 0/1:99:255,0,255 . . 2 152404218 rs2288200 T A NON_SYNONYMOUS_CODING NEB MODERATE|MISSENSE|gAc/gTc|D1079V|2625|NEB|protein_coding|CODING|ENST00000397342|exon_2_152404148_152404252 . . . 0/1:99:255,0,184 2 152404218 rs2288200 T A NON_SYNONYMOUS_CODING NEB MODERATE|MISSENSE|gAc/gTc|D1461V|3007|NEB|protein_coding|CODING|ENST00000413693|exon_2_152404148_152404252 . . . 0/1:99:255,0,184 2 152404218 rs2288200 T A NON_SYNONYMOUS_CODING NEB MODERATE|MISSENSE|gAc/gTc|D5030V|6669|NEB|protein_coding|CODING|ENST00000172853|exon_2_152404148_152404252 . . . 0/1:99:255,0,184 2 152404218 rs2288200 T A NON_SYNONYMOUS_CODING NEB MODERATE|MISSENSE|gAc/gTc|D5030V|6669|NEB|protein_coding|CODING|ENST00000409198|exon_2_152404148_152404252 . . . 0/1:99:255,0,184 2 152404218 rs2288200 T A NON_SYNONYMOUS_CODING NEB MODERATE|MISSENSE|gAc/gTc|D6731V|8525|NEB|protein_coding|CODING|ENST00000397345|exon_2_152404148_152404252 . . . 0/1:99:255,0,184 2 152404218 rs2288200 T A NON_SYNONYMOUS_CODING NEB MODERATE|MISSENSE|gAc/gTc|D6731V|8525|NEB|protein_coding|CODING|ENST00000427231|exon_2_152404148_152404252 . . . 0/1:99:255,0,184 2 152432811 rs35227368 A T NON_SYNONYMOUS_CODING NEB MODERATE|MISSENSE|Tct/Act|S318T|3007|NEB|protein_coding|CODING|ENST00000413693|exon_2_152432665_152432868 . . . 0/1:99:210,0,117 2 152432811 rs35227368 A T NON_SYNONYMOUS_CODING NEB MODERATE|MISSENSE|Tct/Act|S3887T|6669|NEB|protein_coding|CODING|ENST00000172853|exon_2_152432665_152432868 . . . 0/1:99:210,0,117 2 152432811 rs35227368 A T NON_SYNONYMOUS_CODING NEB MODERATE|MISSENSE|Tct/Act|S3887T|6669|NEB|protein_coding|CODING|ENST00000409198|exon_2_152432665_152432868 . . . 0/1:99:210,0,117 2 152432811 rs35227368 A T NON_SYNONYMOUS_CODING NEB MODERATE|MISSENSE|Tct/Act|S5588T|8525|NEB|protein_coding|CODING|ENST00000397345|exon_2_152432665_152432868 . . . 0/1:99:210,0,117 2 152432811 rs35227368 A T NON_SYNONYMOUS_CODING NEB MODERATE|MISSENSE|Tct/Act|S5588T|8525|NEB|protein_coding|CODING|ENST00000427231|exon_2_152432665_152432868 . . . 0/1:99:210,0,117 2 152436106 . C T NON_SYNONYMOUS_CODING NEB MODERATE|MISSENSE|Gcc/Acc|A214T|3007|NEB|protein_coding|CODING|ENST00000413693|exon_2_152435852_152436163 . 1/1:16:75,9,0 . . 2 152436106 . C T NON_SYNONYMOUS_CODING NEB MODERATE|MISSENSE|Gcc/Acc|A5484T|8525|NEB|protein_coding|CODING|ENST00000397345|exon_2_152435852_152436163 . 1/1:16:75,9,0 . . 2 152436106 . C T NON_SYNONYMOUS_CODING NEB MODERATE|MISSENSE|Gcc/Acc|A5484T|8525|NEB|protein_coding|CODING|ENST00000427231|exon_2_152435852_152436163 . 1/1:16:75,9,0 . . 2 152548874 rs77826191 T A NON_SYNONYMOUS_CODING NEB MODERATE|MISSENSE|agA/agT|R633S|6669|NEB|protein_coding|CODING|ENST00000172853|exon_2_152548775_152548876 0/1:99:255,0,255 . . . 2 152548874 rs77826191 T A NON_SYNONYMOUS_CODING NEB MODERATE|MISSENSE|agA/agT|R633S|6669|NEB|protein_coding|CODING|ENST00000409198|exon_2_152548775_152548876 0/1:99:255,0,255 . . . 2 152548874 rs77826191 T A NON_SYNONYMOUS_CODING NEB MODERATE|MISSENSE|agA/agT|R633S|8525|NEB|protein_coding|CODING|ENST00000397345|exon_2_152548775_152548876 0/1:99:255,0,255 . . . 2 152548874 rs77826191 T A NON_SYNONYMOUS_CODING NEB MODERATE|MISSENSE|agA/agT|R633S|8525|NEB|protein_coding|CODING|ENST00000427231|exon_2_152548775_152548876 0/1:99:255,0,255 . . . 2 158114824 rs3739112 C T NON_SYNONYMOUS_CODING GALNT5 MODERATE|MISSENSE|cCc/cTc|P77L|940|GALNT5|protein_coding|CODING|ENST00000259056|exon_2_158114110_158116048 0/1:99:255,0,255 . . . 2 158115129 rs61748237 A T NON_SYNONYMOUS_CODING GALNT5 MODERATE|MISSENSE|Act/Tct|T179S|940|GALNT5|protein_coding|CODING|ENST00000259056|exon_2_158114110_158116048 . 0/1:99:255,0,255 . . 2 158140806 rs6759356 G C NON_SYNONYMOUS_CODING GALNT5 MODERATE|MISSENSE|caG/caC|Q489H|940|GALNT5|protein_coding|CODING|ENST00000259056|exon_2_158140794_158140960 . 0/1:99:255,0,255 . . 2 159170302 rs34363253 T C NON_SYNONYMOUS_CODING CCDC148 MODERATE|MISSENSE|cAa/cGa|Q138R|263|CCDC148|protein_coding|CODING|ENST00000375617|exon_2_159170268_159170406 . . 0/1:99:255,0,239 . 2 159170302 rs34363253 T C NON_SYNONYMOUS_CODING CCDC148 MODERATE|MISSENSE|cAa/cGa|Q204R|299|CCDC148|protein_coding|CODING|ENST00000536771|exon_2_159170268_159170406 . . 0/1:99:255,0,239 . 2 159170302 rs34363253 T C NON_SYNONYMOUS_CODING CCDC148 MODERATE|MISSENSE|cAa/cGa|Q290R|591|CCDC148|protein_coding|CODING|ENST00000283233|exon_2_159170268_159170406 . . 0/1:99:255,0,239 . 2 159170302 rs34363253 T C NON_SYNONYMOUS_CODING CCDC148 MODERATE|MISSENSE|cAa/cGa|Q299R|600|CCDC148|protein_coding|CODING|ENST00000409187|exon_2_159170268_159170406 . . 0/1:99:255,0,239 . 2 159196771 rs12620556 T C NON_SYNONYMOUS_CODING CCDC148 MODERATE|MISSENSE|Atg/Gtg|M157V|255|CCDC148|protein_coding|CODING|ENST00000409889|exon_2_159196754_159196905 0/1:99:255,0,255 . . . 2 159196771 rs12620556 T C NON_SYNONYMOUS_CODING CCDC148 MODERATE|MISSENSE|Atg/Gtg|M157V|591|CCDC148|protein_coding|CODING|ENST00000283233|exon_2_159196754_159196905 0/1:99:255,0,255 . . . 2 159196771 rs12620556 T C NON_SYNONYMOUS_CODING CCDC148 MODERATE|MISSENSE|Atg/Gtg|M166V|600|CCDC148|protein_coding|CODING|ENST00000409187|exon_2_159196754_159196905 0/1:99:255,0,255 . . . 2 159196771 rs12620556 T C NON_SYNONYMOUS_CODING CCDC148 MODERATE|MISSENSE|Atg/Gtg|M71V|299|CCDC148|protein_coding|CODING|ENST00000536771|exon_2_159196754_159196905 0/1:99:255,0,255 . . . 2 159519581 rs139221917 G A NON_SYNONYMOUS_CODING PKP4 MODERATE|MISSENSE|aGg/aAg|R795K|1149|PKP4|protein_coding|CODING|ENST00000389757|exon_2_159519409_159519600 . 0/1:99:236,0,255 . . 2 159519581 rs139221917 G A NON_SYNONYMOUS_CODING PKP4 MODERATE|MISSENSE|aGg/aAg|R795K|1192|PKP4|protein_coding|CODING|ENST00000389759|exon_2_159519409_159519600 . 0/1:99:236,0,255 . . 2 160181398 rs188090321 G A NON_SYNONYMOUS_CODING BAZ2B MODERATE|MISSENSE|Ctt/Ttt|L1993F|2068|BAZ2B|protein_coding|CODING|ENST00000343439|exon_2_160181322_160181465 0/1:99:227,0,133 . . . 2 160181398 rs188090321 G A NON_SYNONYMOUS_CODING BAZ2B MODERATE|MISSENSE|Ctt/Ttt|L2057F|2132|BAZ2B|protein_coding|CODING|ENST00000392782|exon_2_160181322_160181465 0/1:99:227,0,133 . . . 2 160181398 rs188090321 G A NON_SYNONYMOUS_CODING BAZ2B MODERATE|MISSENSE|Ctt/Ttt|L2059F|2134|BAZ2B|protein_coding|CODING|ENST00000355831|exon_2_160181322_160181465 0/1:99:227,0,133 . . . 2 160181398 rs188090321 G A NON_SYNONYMOUS_CODING BAZ2B MODERATE|MISSENSE|Ctt/Ttt|L2093F|2168|BAZ2B|protein_coding|CODING|ENST00000392783|exon_2_160181322_160181465 0/1:99:227,0,133 . . . 2 160182302 rs415793 C T NON_SYNONYMOUS_CODING BAZ2B MODERATE|MISSENSE|aGt/aAt|S1924N|2068|BAZ2B|protein_coding|CODING|ENST00000343439|exon_2_160182164_160182429 . 0/1:99:255,0,255 . 0/1:99:255,0,255 2 160182302 rs415793 C T NON_SYNONYMOUS_CODING BAZ2B MODERATE|MISSENSE|aGt/aAt|S1988N|2132|BAZ2B|protein_coding|CODING|ENST00000392782|exon_2_160182164_160182429 . 0/1:99:255,0,255 . 0/1:99:255,0,255 2 160182302 rs415793 C T NON_SYNONYMOUS_CODING BAZ2B MODERATE|MISSENSE|aGt/aAt|S1990N|2134|BAZ2B|protein_coding|CODING|ENST00000355831|exon_2_160182164_160182429 . 0/1:99:255,0,255 . 0/1:99:255,0,255 2 160182302 rs415793 C T NON_SYNONYMOUS_CODING BAZ2B MODERATE|MISSENSE|aGt/aAt|S2024N|2168|BAZ2B|protein_coding|CODING|ENST00000392783|exon_2_160182164_160182429 . 0/1:99:255,0,255 . 0/1:99:255,0,255 2 160182374 rs148382881 T C NON_SYNONYMOUS_CODING BAZ2B MODERATE|MISSENSE|aAt/aGt|N1900S|2068|BAZ2B|protein_coding|CODING|ENST00000343439|exon_2_160182164_160182429 . . . 0/1:99:255,0,255 2 160182374 rs148382881 T C NON_SYNONYMOUS_CODING BAZ2B MODERATE|MISSENSE|aAt/aGt|N1964S|2132|BAZ2B|protein_coding|CODING|ENST00000392782|exon_2_160182164_160182429 . . . 0/1:99:255,0,255 2 160182374 rs148382881 T C NON_SYNONYMOUS_CODING BAZ2B MODERATE|MISSENSE|aAt/aGt|N1966S|2134|BAZ2B|protein_coding|CODING|ENST00000355831|exon_2_160182164_160182429 . . . 0/1:99:255,0,255 2 160182374 rs148382881 T C NON_SYNONYMOUS_CODING BAZ2B MODERATE|MISSENSE|aAt/aGt|N2000S|2168|BAZ2B|protein_coding|CODING|ENST00000392783|exon_2_160182164_160182429 . . . 0/1:99:255,0,255 2 160599717 rs17813964 C G NON_SYNONYMOUS_CODING MARCH7 MODERATE|MISSENSE|aCt/aGt|T100S|100|MARCH7|protein_coding|CODING|ENST00000421037|exon_2_160599572_160599722 . . 0/1:99:255,0,255 0/1:99:255,0,178 2 160599717 rs17813964 C G NON_SYNONYMOUS_CODING MARCH7 MODERATE|MISSENSE|aCt/aGt|T100S|635|MARCH7|protein_coding|CODING|ENST00000539065|exon_2_160599572_160599764 . . 0/1:99:255,0,255 0/1:99:255,0,178 2 160599717 rs17813964 C G NON_SYNONYMOUS_CODING MARCH7 MODERATE|MISSENSE|aCt/aGt|T100S|704|MARCH7|protein_coding|CODING|ENST00000259050|exon_2_160599572_160599764 . . 0/1:99:255,0,255 0/1:99:255,0,178 2 160599717 rs17813964 C G NON_SYNONYMOUS_CODING MARCH7 MODERATE|MISSENSE|aCt/aGt|T100S|704|MARCH7|protein_coding|CODING|ENST00000409175|exon_2_160599572_160599764 . . 0/1:99:255,0,255 0/1:99:255,0,178 2 160599717 rs17813964 C G NON_SYNONYMOUS_CODING MARCH7 MODERATE|MISSENSE|aCt/aGt|T62S|666|MARCH7|protein_coding|CODING|ENST00000409591|exon_2_160599572_160599764 . . 0/1:99:255,0,255 0/1:99:255,0,178 2 160604372 rs149252951 A G NON_SYNONYMOUS_CODING MARCH7 MODERATE|MISSENSE|Atg/Gtg|M135V|635|MARCH7|protein_coding|CODING|ENST00000539065|exon_2_160604316_160605414 . . 0/1:99:255,0,240 . 2 160604372 rs149252951 A G NON_SYNONYMOUS_CODING MARCH7 MODERATE|MISSENSE|Atg/Gtg|M153V|666|MARCH7|protein_coding|CODING|ENST00000409591|exon_2_160604316_160605414 . . 0/1:99:255,0,240 . 2 160604372 rs149252951 A G NON_SYNONYMOUS_CODING MARCH7 MODERATE|MISSENSE|Atg/Gtg|M191V|704|MARCH7|protein_coding|CODING|ENST00000259050|exon_2_160604316_160605414 . . 0/1:99:255,0,240 . 2 160604372 rs149252951 A G NON_SYNONYMOUS_CODING MARCH7 MODERATE|MISSENSE|Atg/Gtg|M191V|704|MARCH7|protein_coding|CODING|ENST00000409175|exon_2_160604316_160605414 . . 0/1:99:255,0,240 . 2 160673519 rs35941588 G A NON_SYNONYMOUS_CODING LY75 MODERATE|MISSENSE|aCt/aTt|T1393I|1722|LY75|protein_coding|CODING|ENST00000263636|exon_2_160673317_160673543 . . 0/1:99:255,0,255 0/1:99:255,0,255 2 160673519 rs35941588 G A NON_SYNONYMOUS_CODING LY75-CD302 MODERATE|MISSENSE|aCt/aTt|T1393I|1817|LY75-CD302|protein_coding|CODING|ENST00000505052|exon_2_160673317_160673543 . . 0/1:99:255,0,255 0/1:99:255,0,255 2 160673519 rs35941588 G A NON_SYNONYMOUS_CODING LY75 MODERATE|MISSENSE|aCt/aTt|T1393I|1817|LY75|protein_coding|CODING|ENST00000553424|exon_2_160673317_160673543 . . 0/1:99:255,0,255 0/1:99:255,0,255 2 160673519 rs35941588 G A NON_SYNONYMOUS_CODING LY75-CD302 MODERATE|MISSENSE|aCt/aTt|T1393I|1873|LY75-CD302|protein_coding|CODING|ENST00000504764|exon_2_160673317_160673543 . . 0/1:99:255,0,255 0/1:99:255,0,255 2 160673519 rs35941588 G A NON_SYNONYMOUS_CODING LY75 MODERATE|MISSENSE|aCt/aTt|T1393I|1873|LY75|protein_coding|CODING|ENST00000554112|exon_2_160673317_160673543 . . 0/1:99:255,0,255 0/1:99:255,0,255 2 160879259 rs33985939 C T NON_SYNONYMOUS_CODING PLA2R1 MODERATE|MISSENSE|cGt/cAt|R404H|1324|PLA2R1|protein_coding|CODING|ENST00000392771|exon_2_160879176_160879370 . . 0/1:99:255,0,208 0/1:99:255,0,249 2 160879259 rs33985939 C T NON_SYNONYMOUS_CODING PLA2R1 MODERATE|MISSENSE|cGt/cAt|R404H|1463|PLA2R1|protein_coding|CODING|ENST00000283243|exon_2_160879176_160879370 . . 0/1:99:255,0,208 0/1:99:255,0,249 2 163137983 rs10930046 T C NON_SYNONYMOUS_CODING IFIH1 MODERATE|MISSENSE|cAt/cGt|H460R|1025|IFIH1|protein_coding|CODING|ENST00000263642|exon_2_163137838_163138055 . . . 0/1:99:233,0,255 2 163137983 rs10930046 T C NON_SYNONYMOUS_CODING IFIH1 MODERATE|MISSENSE|cAt/cGt|H460R|1025|IFIH1|protein_coding|CODING|ENST00000543192|exon_2_163137838_163138055 . . . 0/1:99:233,0,255 2 163175656 rs11897697 A C NON_SYNONYMOUS_CODING GCA MODERATE|MISSENSE|agA/agC|R4S|145|GCA|protein_coding|CODING|ENST00000446271|exon_2_163175394_163175749 . . . 0/1:99:198,0,253 2 165381518 rs75536691 A G NON_SYNONYMOUS_CODING GRB14 MODERATE|MISSENSE|tTg/tCg|L138S|453|GRB14|protein_coding|CODING|ENST00000543549|exon_2_165381514_165381588 0/1:99:255,0,255 . . . 2 165381518 rs75536691 A G NON_SYNONYMOUS_CODING GRB14 MODERATE|MISSENSE|tTg/tCg|L180S|414|GRB14|protein_coding|CODING|ENST00000446413|exon_2_165381514_165381588 0/1:99:255,0,255 . . . 2 165381518 rs75536691 A G NON_SYNONYMOUS_CODING GRB14 MODERATE|MISSENSE|tTg/tCg|L225S|540|GRB14|protein_coding|CODING|ENST00000263915|exon_2_165381514_165381588 0/1:99:255,0,255 . . . 2 165551404 rs17244632 G A NON_SYNONYMOUS_CODING COBLL1 MODERATE|MISSENSE|aCt/aTt|T833I|1128|COBLL1|protein_coding|CODING|ENST00000375458|exon_2_165550779_165552346 0/1:99:255,0,255 . . 0/1:99:255,0,150 2 165551404 rs17244632 G A NON_SYNONYMOUS_CODING COBLL1 MODERATE|MISSENSE|aCt/aTt|T871I|1166|COBLL1|protein_coding|CODING|ENST00000342193|exon_2_165550779_165552343 0/1:99:255,0,255 . . 0/1:99:255,0,150 2 165551404 rs17244632 G A NON_SYNONYMOUS_CODING COBLL1 MODERATE|MISSENSE|aCt/aTt|T871I|1166|COBLL1|protein_coding|CODING|ENST00000409184|exon_2_165550779_165552346 0/1:99:255,0,255 . . 0/1:99:255,0,150 2 165551404 rs17244632 G A NON_SYNONYMOUS_CODING COBLL1 MODERATE|MISSENSE|aCt/aTt|T909I|1204|COBLL1|protein_coding|CODING|ENST00000392717|exon_2_165550779_165552343 0/1:99:255,0,255 . . 0/1:99:255,0,150 2 165551404 rs17244632 G A NON_SYNONYMOUS_CODING COBLL1 MODERATE|MISSENSE|aCt/aTt|T938I|1233|COBLL1|protein_coding|CODING|ENST00000194871|exon_2_165550779_165552346 0/1:99:255,0,255 . . 0/1:99:255,0,150 2 167266831 rs77645356 C T NON_SYNONYMOUS_CODING SCN7A MODERATE|MISSENSE|Gga/Aga|G1204R|1682|SCN7A|protein_coding|CODING|ENST00000259060|exon_2_167266730_167266834 0/1:99:255,0,255 . . . 2 167266831 rs77645356 C T NON_SYNONYMOUS_CODING SCN7A MODERATE|MISSENSE|Gga/Aga|G1204R|1682|SCN7A|protein_coding|CODING|ENST00000409855|exon_2_167266730_167266834 0/1:99:255,0,255 . . . 2 168099316 rs143400009 T C NON_SYNONYMOUS_CODING XIRP2 MODERATE|MISSENSE|Tcc/Ccc|S250P|3327|XIRP2|protein_coding|CODING|ENST00000409273|exon_2_168099079_168108457 0/1:99:241,0,255 . . . 2 168099316 rs143400009 T C NON_SYNONYMOUS_CODING XIRP2 MODERATE|MISSENSE|Tcc/Ccc|S472P|3549|XIRP2|protein_coding|CODING|ENST00000295237|exon_2_168099079_168108457 0/1:99:241,0,255 . . . 2 168099316 rs143400009 T C NON_SYNONYMOUS_CODING XIRP2 MODERATE|MISSENSE|Tcc/Ccc|S472P|3549|XIRP2|protein_coding|CODING|ENST00000409195|exon_2_168099079_168108457 0/1:99:241,0,255 . . . 2 168105695 rs16853326 T G NON_SYNONYMOUS_CODING XIRP2 MODERATE|MISSENSE|cTa/cGa|L12R|963|XIRP2|protein_coding|CODING|ENST00000413534|exon_2_168105612_168108457 0/1:99:255,0,255 . . . 2 168105695 rs16853326 T G NON_SYNONYMOUS_CODING XIRP2 MODERATE|MISSENSE|cTa/cGa|L2376R|3327|XIRP2|protein_coding|CODING|ENST00000409273|exon_2_168099079_168108457 0/1:99:255,0,255 . . . 2 168105695 rs16853326 T G NON_SYNONYMOUS_CODING XIRP2 MODERATE|MISSENSE|cTa/cGa|L2598R|3549|XIRP2|protein_coding|CODING|ENST00000295237|exon_2_168099079_168108457 0/1:99:255,0,255 . . . 2 168105695 rs16853326 T G NON_SYNONYMOUS_CODING XIRP2 MODERATE|MISSENSE|cTa/cGa|L2598R|3549|XIRP2|protein_coding|CODING|ENST00000409195|exon_2_168099079_168108457 0/1:99:255,0,255 . . . 2 168108032 rs16853333 G A NON_SYNONYMOUS_CODING XIRP2 MODERATE|MISSENSE|gGa/gAa|G3155E|3327|XIRP2|protein_coding|CODING|ENST00000409273|exon_2_168099079_168108457 0/1:99:229,0,255 . . . 2 168108032 rs16853333 G A NON_SYNONYMOUS_CODING XIRP2 MODERATE|MISSENSE|gGa/gAa|G3377E|3549|XIRP2|protein_coding|CODING|ENST00000295237|exon_2_168099079_168108457 0/1:99:229,0,255 . . . 2 168108032 rs16853333 G A NON_SYNONYMOUS_CODING XIRP2 MODERATE|MISSENSE|gGa/gAa|G3377E|3549|XIRP2|protein_coding|CODING|ENST00000409195|exon_2_168099079_168108457 0/1:99:229,0,255 . . . 2 168108032 rs16853333 G A NON_SYNONYMOUS_CODING XIRP2 MODERATE|MISSENSE|gGa/gAa|G791E|963|XIRP2|protein_coding|CODING|ENST00000413534|exon_2_168105612_168108457 0/1:99:229,0,255 . . . 2 169825884 . C T NON_SYNONYMOUS_CODING ABCB11 MODERATE|MISSENSE|Gct/Act|A663T|1321|ABCB11|protein_coding|CODING|ENST00000263817|exon_2_169825860_169826061 . . 0/1:99:255,0,255 . 2 170094756 rs146289506 C A NON_SYNONYMOUS_CODING LRP2 MODERATE|MISSENSE|Gtc/Ttc|V1451F|4655|LRP2|protein_coding|CODING|ENST00000263816|exon_2_170094601_170094812 . . . 0/1:99:234,0,255 2 170147502 rs34693334 C G NON_SYNONYMOUS_CODING LRP2 MODERATE|MISSENSE|Ggt/Cgt|G259R|1225|LRP2|protein_coding|CODING|ENST00000443831|exon_2_170147355_170147507 0/1:99:215,0,255 . . . 2 170147502 rs34693334 C G NON_SYNONYMOUS_CODING LRP2 MODERATE|MISSENSE|Ggt/Cgt|G259R|4655|LRP2|protein_coding|CODING|ENST00000263816|exon_2_170147355_170147507 0/1:99:215,0,255 . . . 2 170502415 rs114609276 T C NON_SYNONYMOUS_CODING C2orf77 MODERATE|MISSENSE|tAt/tGt|Y532C|552|C2orf77|protein_coding|CODING|ENST00000447353|exon_2_170501935_170502692 0/1:99:255,0,255 . . . 2 171573597 rs200305999 A C NON_SYNONYMOUS_CODING SP5 MODERATE|MISSENSE|Aag/Cag|K294Q|398|SP5|protein_coding|CODING|ENST00000375281|exon_2_171572769_171574588 . 0/1:99:131,0,188 . . 2 174131392 rs35608243 T C NON_SYNONYMOUS_CODING AC013461.1.1 MODERATE|MISSENSE|Tac/Cac|Y773H|800|AC013461.1.1|protein_coding|CODING|ENST00000375213|exon_2_174130778_174132738 . 0/1:99:170,0,197 . . 2 174131392 rs35608243 T C NON_SYNONYMOUS_CODING AC013461.1.1 MODERATE|MISSENSE|Tac/Cac|Y773H|800|AC013461.1.1|protein_coding|CODING|ENST00000409176|exon_2_174130778_174131511 . 0/1:99:170,0,197 . . 2 175213774 . AGAGGAGGAGGAGGAGGA AGAGGAGGAGGAGGAGGAGGA CODON_INSERTION CIR1 MODERATE||tct/tcTCCt|S262SP|450|CIR1|protein_coding|CODING|ENST00000342016|exon_2_175212750_175213900 . . 0/1:99:255,0,255 . 2 176866948 rs114093789 G A NON_SYNONYMOUS_CODING KIAA1715 MODERATE|MISSENSE|gCg/gTg|A24V|430|KIAA1715|protein_coding|CODING|ENST00000536291|exon_2_176866888_176867022 . . . 0/1:49:163,0,46 2 176972168 rs149509317 G T NON_SYNONYMOUS_CODING HOXD11 MODERATE|MISSENSE|Gct/Tct|A16S|159|HOXD11|protein_coding|CODING|ENST00000392538|exon_2_176972123_176972241 0/1:55:199,0,52 . . . 2 176972168 rs149509317 G T NON_SYNONYMOUS_CODING HOXD11 MODERATE|MISSENSE|Gct/Tct|A29S|338|HOXD11|protein_coding|CODING|ENST00000249504|exon_2_176972014_176972864 0/1:55:199,0,52 . . . 2 178482771 rs59353759 C T NON_SYNONYMOUS_CODING TTC30A MODERATE|MISSENSE|cGc/cAc|R220H|665|TTC30A|protein_coding|CODING|ENST00000355689|exon_2_178479026_178483694 . 0/1:99:255,0,164 0/1:99:118,0,255 . 2 178528641 rs61306957 G C NON_SYNONYMOUS_CODING PDE11A MODERATE|MISSENSE|Cgg/Ggg|R423G|489|PDE11A|protein_coding|CODING|ENST00000389683|exon_2_178528594_178528677 . 0/1:99:255,0,244 0/1:99:216,0,255 . 2 178528641 rs61306957 G C NON_SYNONYMOUS_CODING PDE11A MODERATE|MISSENSE|Cgg/Ggg|R509G|575|PDE11A|protein_coding|CODING|ENST00000409504|exon_2_178528594_178528677 . 0/1:99:255,0,244 0/1:99:216,0,255 . 2 178528641 rs61306957 G C NON_SYNONYMOUS_CODING PDE11A MODERATE|MISSENSE|Cgg/Ggg|R509G|575|PDE11A|protein_coding|CODING|ENST00000449286|exon_2_178528594_178528677 . 0/1:99:255,0,244 0/1:99:216,0,255 . 2 178528641 rs61306957 G C NON_SYNONYMOUS_CODING PDE11A MODERATE|MISSENSE|Cgg/Ggg|R58G|124|PDE11A|protein_coding|CODING|ENST00000450799|exon_2_178528594_178528677 . 0/1:99:255,0,244 0/1:99:216,0,255 . 2 178528641 rs61306957 G C NON_SYNONYMOUS_CODING PDE11A MODERATE|MISSENSE|Cgg/Ggg|R617G|683|PDE11A|protein_coding|CODING|ENST00000358450|exon_2_178528594_178528677 . 0/1:99:255,0,244 0/1:99:216,0,255 . 2 178528641 rs61306957 G C NON_SYNONYMOUS_CODING PDE11A MODERATE|MISSENSE|Cgg/Ggg|R867G|933|PDE11A|protein_coding|CODING|ENST00000286063|exon_2_178528594_178528677 . 0/1:99:255,0,244 0/1:99:216,0,255 . 2 179315031 rs61999302 T C NON_SYNONYMOUS_CODING PRKRA MODERATE|MISSENSE|gAt/gGt|D33G|288|PRKRA|protein_coding|CODING|ENST00000487082|exon_2_179314969_179315138 . 0/1:99:156,0,255 . . 2 179315031 rs61999302 T C NON_SYNONYMOUS_CODING PRKRA MODERATE|MISSENSE|gAt/gGt|D47G|107|PRKRA|protein_coding|CODING|ENST00000457633|exon_2_179314969_179315786 . 0/1:99:156,0,255 . . 2 179315031 rs61999302 T C NON_SYNONYMOUS_CODING PRKRA MODERATE|MISSENSE|gAt/gGt|D47G|302|PRKRA|protein_coding|CODING|ENST00000432031|exon_2_179314969_179315484 . 0/1:99:156,0,255 . . 2 179315031 rs61999302 T C NON_SYNONYMOUS_CODING PRKRA MODERATE|MISSENSE|gAt/gGt|D58G|313|PRKRA|protein_coding|CODING|ENST00000325748|exon_2_179314969_179315138 . 0/1:99:156,0,255 . . 2 179325735 rs17304212 C T NON_SYNONYMOUS_CODING DFNB59 MODERATE|MISSENSE|Cgt/Tgt|R265C|352|DFNB59|protein_coding|CODING|ENST00000375129|exon_2_179325709_179326001 0/1:99:255,0,255 . . 0/1:99:255,0,255 2 179325735 rs17304212 C T NON_SYNONYMOUS_CODING DFNB59 MODERATE|MISSENSE|Cgt/Tgt|R265C|352|DFNB59|protein_coding|CODING|ENST00000409117|exon_2_179325709_179326117 0/1:99:255,0,255 . . 0/1:99:255,0,255 2 179393111 rs16866378 A G NON_SYNONYMOUS_CODING TTN MODERATE|MISSENSE|gTa/gCa|V26688A|26923|TTN|protein_coding|CODING|ENST00000356127|exon_2_179393001_179393154 0/1:99:255,0,255 . . . 2 179393111 rs16866378 A G NON_SYNONYMOUS_CODING TTN MODERATE|MISSENSE|gTa/gCa|V26691A|26926|TTN|protein_coding|CODING|ENST00000460472|exon_2_179393001_179393154 0/1:99:255,0,255 . . . 2 179393111 rs16866378 A G NON_SYNONYMOUS_CODING TTN MODERATE|MISSENSE|gTa/gCa|V26816A|27051|TTN|protein_coding|CODING|ENST00000359218|exon_2_179393001_179393154 0/1:99:255,0,255 . . . 2 179393111 rs16866378 A G NON_SYNONYMOUS_CODING TTN MODERATE|MISSENSE|gTa/gCa|V26883A|27118|TTN|protein_coding|CODING|ENST00000342175|exon_2_179393001_179393154 0/1:99:255,0,255 . . . 2 179393111 rs16866378 A G NON_SYNONYMOUS_CODING TTN MODERATE|MISSENSE|gTa/gCa|V33188A|33423|TTN|protein_coding|CODING|ENST00000342992|exon_2_179393001_179393154 0/1:99:255,0,255 . . . 2 179395560 rs16866380 G A NON_SYNONYMOUS_CODING TTN MODERATE|MISSENSE|cCg/cTg|P26193L|26923|TTN|protein_coding|CODING|ENST00000356127|exon_2_179394968_179400576 0/1:99:204,0,255 . . . 2 179395560 rs16866380 G A NON_SYNONYMOUS_CODING TTN MODERATE|MISSENSE|cCg/cTg|P26196L|26926|TTN|protein_coding|CODING|ENST00000460472|exon_2_179394968_179400576 0/1:99:204,0,255 . . . 2 179395560 rs16866380 G A NON_SYNONYMOUS_CODING TTN MODERATE|MISSENSE|cCg/cTg|P26321L|27051|TTN|protein_coding|CODING|ENST00000359218|exon_2_179394968_179400576 0/1:99:204,0,255 . . . 2 179395560 rs16866380 G A NON_SYNONYMOUS_CODING TTN MODERATE|MISSENSE|cCg/cTg|P26388L|27118|TTN|protein_coding|CODING|ENST00000342175|exon_2_179394968_179400576 0/1:99:204,0,255 . . . 2 179395560 rs16866380 G A NON_SYNONYMOUS_CODING TTN MODERATE|MISSENSE|cCg/cTg|P32693L|33423|TTN|protein_coding|CODING|ENST00000342992|exon_2_179394968_179400576 0/1:99:204,0,255 . . . 2 179398509 rs3731752 C A NON_SYNONYMOUS_CODING TTN MODERATE|MISSENSE|gGa/gTa|G25210V|26923|TTN|protein_coding|CODING|ENST00000356127|exon_2_179394968_179400576 0/1:99:247,0,255 . . . 2 179398509 rs3731752 C A NON_SYNONYMOUS_CODING TTN MODERATE|MISSENSE|gGa/gTa|G25213V|26926|TTN|protein_coding|CODING|ENST00000460472|exon_2_179394968_179400576 0/1:99:247,0,255 . . . 2 179398509 rs3731752 C A NON_SYNONYMOUS_CODING TTN MODERATE|MISSENSE|gGa/gTa|G25338V|27051|TTN|protein_coding|CODING|ENST00000359218|exon_2_179394968_179400576 0/1:99:247,0,255 . . . 2 179398509 rs3731752 C A NON_SYNONYMOUS_CODING TTN MODERATE|MISSENSE|gGa/gTa|G25405V|27118|TTN|protein_coding|CODING|ENST00000342175|exon_2_179394968_179400576 0/1:99:247,0,255 . . . 2 179398509 rs3731752 C A NON_SYNONYMOUS_CODING TTN MODERATE|MISSENSE|gGa/gTa|G31710V|33423|TTN|protein_coding|CODING|ENST00000342992|exon_2_179394968_179400576 0/1:99:247,0,255 . . . 2 179400130 rs56273463 G A NON_SYNONYMOUS_CODING TTN MODERATE|MISSENSE|Cgt/Tgt|R24670C|26923|TTN|protein_coding|CODING|ENST00000356127|exon_2_179394968_179400576 . 0/1:99:255,0,255 . . 2 179400130 rs56273463 G A NON_SYNONYMOUS_CODING TTN MODERATE|MISSENSE|Cgt/Tgt|R24673C|26926|TTN|protein_coding|CODING|ENST00000460472|exon_2_179394968_179400576 . 0/1:99:255,0,255 . . 2 179400130 rs56273463 G A NON_SYNONYMOUS_CODING TTN MODERATE|MISSENSE|Cgt/Tgt|R24798C|27051|TTN|protein_coding|CODING|ENST00000359218|exon_2_179394968_179400576 . 0/1:99:255,0,255 . . 2 179400130 rs56273463 G A NON_SYNONYMOUS_CODING TTN MODERATE|MISSENSE|Cgt/Tgt|R24865C|27118|TTN|protein_coding|CODING|ENST00000342175|exon_2_179394968_179400576 . 0/1:99:255,0,255 . . 2 179400130 rs56273463 G A NON_SYNONYMOUS_CODING TTN MODERATE|MISSENSE|Cgt/Tgt|R31170C|33423|TTN|protein_coding|CODING|ENST00000342992|exon_2_179394968_179400576 . 0/1:99:255,0,255 . . 2 179400895 rs2278196 C T NON_SYNONYMOUS_CODING TTN MODERATE|MISSENSE|Gtc/Atc|V24459I|26923|TTN|protein_coding|CODING|ENST00000356127|exon_2_179400709_179401302 0/1:99:255,0,255 . . . 2 179400895 rs2278196 C T NON_SYNONYMOUS_CODING TTN MODERATE|MISSENSE|Gtc/Atc|V24462I|26926|TTN|protein_coding|CODING|ENST00000460472|exon_2_179400709_179401302 0/1:99:255,0,255 . . . 2 179400895 rs2278196 C T NON_SYNONYMOUS_CODING TTN MODERATE|MISSENSE|Gtc/Atc|V24587I|27051|TTN|protein_coding|CODING|ENST00000359218|exon_2_179400709_179401302 0/1:99:255,0,255 . . . 2 179400895 rs2278196 C T NON_SYNONYMOUS_CODING TTN MODERATE|MISSENSE|Gtc/Atc|V24654I|27118|TTN|protein_coding|CODING|ENST00000342175|exon_2_179400709_179401302 0/1:99:255,0,255 . . . 2 179400895 rs2278196 C T NON_SYNONYMOUS_CODING TTN MODERATE|MISSENSE|Gtc/Atc|V30959I|33423|TTN|protein_coding|CODING|ENST00000342992|exon_2_179400709_179401302 0/1:99:255,0,255 . . . 2 179404628 rs72648270 T A NON_SYNONYMOUS_CODING TTN MODERATE|MISSENSE|Atc/Ttc|I23654F|26923|TTN|protein_coding|CODING|ENST00000356127|exon_2_179404109_179404693 0/1:99:255,0,196 . . . 2 179404628 rs72648270 T A NON_SYNONYMOUS_CODING TTN MODERATE|MISSENSE|Atc/Ttc|I23657F|26926|TTN|protein_coding|CODING|ENST00000460472|exon_2_179404109_179404693 0/1:99:255,0,196 . . . 2 179404628 rs72648270 T A NON_SYNONYMOUS_CODING TTN MODERATE|MISSENSE|Atc/Ttc|I23782F|27051|TTN|protein_coding|CODING|ENST00000359218|exon_2_179404109_179404693 0/1:99:255,0,196 . . . 2 179404628 rs72648270 T A NON_SYNONYMOUS_CODING TTN MODERATE|MISSENSE|Atc/Ttc|I23849F|27118|TTN|protein_coding|CODING|ENST00000342175|exon_2_179404109_179404693 0/1:99:255,0,196 . . . 2 179404628 rs72648270 T A NON_SYNONYMOUS_CODING TTN MODERATE|MISSENSE|Atc/Ttc|I30154F|33423|TTN|protein_coding|CODING|ENST00000342992|exon_2_179404109_179404693 0/1:99:255,0,196 . . . 2 179432185 rs12463674 A G NON_SYNONYMOUS_CODING TTN MODERATE|MISSENSE|aTt/aCt|I17158T|26923|TTN|protein_coding|CODING|ENST00000356127|exon_2_179425401_179441143 . . 0/1:99:255,0,248 . 2 179432185 rs12463674 A G NON_SYNONYMOUS_CODING TTN MODERATE|MISSENSE|aTt/aCt|I17160T|26926|TTN|protein_coding|CODING|ENST00000460472|exon_2_179424038_179441143 . . 0/1:99:255,0,248 . 2 179432185 rs12463674 A G NON_SYNONYMOUS_CODING TTN MODERATE|MISSENSE|aTt/aCt|I17285T|27051|TTN|protein_coding|CODING|ENST00000359218|exon_2_179424038_179441143 . . 0/1:99:255,0,248 . 2 179432185 rs12463674 A G NON_SYNONYMOUS_CODING TTN MODERATE|MISSENSE|aTt/aCt|I17352T|27118|TTN|protein_coding|CODING|ENST00000342175|exon_2_179424038_179441143 . . 0/1:99:255,0,248 . 2 179432185 rs12463674 A G NON_SYNONYMOUS_CODING TTN MODERATE|MISSENSE|aTt/aCt|I23657T|33423|TTN|protein_coding|CODING|ENST00000342992|exon_2_179424038_179441143 . . 0/1:99:255,0,248 . 2 179433205 rs199514898 A G NON_SYNONYMOUS_CODING TTN MODERATE|MISSENSE|aTt/aCt|I16818T|26923|TTN|protein_coding|CODING|ENST00000356127|exon_2_179425401_179441143 . 0/1:99:255,0,255 . . 2 179433205 rs199514898 A G NON_SYNONYMOUS_CODING TTN MODERATE|MISSENSE|aTt/aCt|I16820T|26926|TTN|protein_coding|CODING|ENST00000460472|exon_2_179424038_179441143 . 0/1:99:255,0,255 . . 2 179433205 rs199514898 A G NON_SYNONYMOUS_CODING TTN MODERATE|MISSENSE|aTt/aCt|I16945T|27051|TTN|protein_coding|CODING|ENST00000359218|exon_2_179424038_179441143 . 0/1:99:255,0,255 . . 2 179433205 rs199514898 A G NON_SYNONYMOUS_CODING TTN MODERATE|MISSENSE|aTt/aCt|I17012T|27118|TTN|protein_coding|CODING|ENST00000342175|exon_2_179424038_179441143 . 0/1:99:255,0,255 . . 2 179433205 rs199514898 A G NON_SYNONYMOUS_CODING TTN MODERATE|MISSENSE|aTt/aCt|I23317T|33423|TTN|protein_coding|CODING|ENST00000342992|exon_2_179424038_179441143 . 0/1:99:255,0,255 . . 2 179434516 rs3813243 C T NON_SYNONYMOUS_CODING TTN MODERATE|MISSENSE|aGt/aAt|S16381N|26923|TTN|protein_coding|CODING|ENST00000356127|exon_2_179425401_179441143 0/1:99:255,0,239 . . . 2 179434516 rs3813243 C T NON_SYNONYMOUS_CODING TTN MODERATE|MISSENSE|aGt/aAt|S16383N|26926|TTN|protein_coding|CODING|ENST00000460472|exon_2_179424038_179441143 0/1:99:255,0,239 . . . 2 179434516 rs3813243 C T NON_SYNONYMOUS_CODING TTN MODERATE|MISSENSE|aGt/aAt|S16508N|27051|TTN|protein_coding|CODING|ENST00000359218|exon_2_179424038_179441143 0/1:99:255,0,239 . . . 2 179434516 rs3813243 C T NON_SYNONYMOUS_CODING TTN MODERATE|MISSENSE|aGt/aAt|S16575N|27118|TTN|protein_coding|CODING|ENST00000342175|exon_2_179424038_179441143 0/1:99:255,0,239 . . . 2 179434516 rs3813243 C T NON_SYNONYMOUS_CODING TTN MODERATE|MISSENSE|aGt/aAt|S22880N|33423|TTN|protein_coding|CODING|ENST00000342992|exon_2_179424038_179441143 0/1:99:255,0,239 . . . 2 179446381 rs72646869 C T NON_SYNONYMOUS_CODING TTN MODERATE|MISSENSE|aGg/aAg|R13138K|26923|TTN|protein_coding|CODING|ENST00000356127|exon_2_179446226_179446531 . 0/1:99:255,0,245 . . 2 179446381 rs72646869 C T NON_SYNONYMOUS_CODING TTN MODERATE|MISSENSE|aGg/aAg|R13140K|26926|TTN|protein_coding|CODING|ENST00000460472|exon_2_179446226_179446531 . 0/1:99:255,0,245 . . 2 179446381 rs72646869 C T NON_SYNONYMOUS_CODING TTN MODERATE|MISSENSE|aGg/aAg|R13265K|27051|TTN|protein_coding|CODING|ENST00000359218|exon_2_179446226_179446531 . 0/1:99:255,0,245 . . 2 179446381 rs72646869 C T NON_SYNONYMOUS_CODING TTN MODERATE|MISSENSE|aGg/aAg|R13332K|27118|TTN|protein_coding|CODING|ENST00000342175|exon_2_179446226_179446531 . 0/1:99:255,0,245 . . 2 179446381 rs72646869 C T NON_SYNONYMOUS_CODING TTN MODERATE|MISSENSE|aGg/aAg|R19637K|33423|TTN|protein_coding|CODING|ENST00000342992|exon_2_179446226_179446531 . 0/1:99:255,0,245 . . 2 179470163 . A T NON_SYNONYMOUS_CODING TTN MODERATE|MISSENSE|aaT/aaA|N15385K|33423|TTN|protein_coding|CODING|ENST00000342992|exon_2_179470141_179470440 0/1:99:255,0,255 . . . 2 179470163 . A T NON_SYNONYMOUS_CODING TTN MODERATE|MISSENSE|aaT/aaA|N8888K|26923|TTN|protein_coding|CODING|ENST00000356127|exon_2_179470141_179470440 0/1:99:255,0,255 . . . 2 179470163 . A T NON_SYNONYMOUS_CODING TTN MODERATE|MISSENSE|aaT/aaA|N8888K|26926|TTN|protein_coding|CODING|ENST00000460472|exon_2_179470141_179470440 0/1:99:255,0,255 . . . 2 179470163 . A T NON_SYNONYMOUS_CODING TTN MODERATE|MISSENSE|aaT/aaA|N9013K|27051|TTN|protein_coding|CODING|ENST00000359218|exon_2_179470141_179470440 0/1:99:255,0,255 . . . 2 179470163 . A T NON_SYNONYMOUS_CODING TTN MODERATE|MISSENSE|aaT/aaA|N9080K|27118|TTN|protein_coding|CODING|ENST00000342175|exon_2_179470141_179470440 0/1:99:255,0,255 . . . 2 179528013 . G A NON_SYNONYMOUS_CODING TTN MODERATE|MISSENSE|cCg/cTg|P353L|471|TTN|protein_coding|CODING|ENST00000392423|exon_2_179527993_179528076 0/1:99:97,0,204 . . . 2 179528013 . G A NON_SYNONYMOUS_CODING TTN MODERATE|MISSENSE|cCg/cTg|P501L|828|TTN|protein_coding|CODING|ENST00000541862|exon_2_179527993_179528076 0/1:99:97,0,204 . . . 2 179545859 rs36051007 C T NON_SYNONYMOUS_CODING TTN MODERATE|MISSENSE|cGt/cAt|R9852H|33423|TTN|protein_coding|CODING|ENST00000342992|exon_2_179545806_179545898 . . 0/1:99:255,0,238 . 2 179554305 rs2244492 C T NON_SYNONYMOUS_CODING TTN MODERATE|MISSENSE|Gga/Aga|G500R|961|TTN|protein_coding|CODING|ENST00000414766|exon_2_179554242_179554322 . . 0/1:99:239,0,255 . 2 179554305 rs2244492 C T NON_SYNONYMOUS_CODING TTN MODERATE|MISSENSE|Gga/Aga|G9378R|33423|TTN|protein_coding|CODING|ENST00000342992|exon_2_179554242_179554322 . . 0/1:99:239,0,255 . 2 179612383 rs72648907 C T NON_SYNONYMOUS_CODING TTN MODERATE|MISSENSE|cGt/cAt|R229H|885|TTN|protein_coding|CODING|ENST00000306136|exon_2_179611895_179613089 . 0/1:99:243,0,255 . . 2 179612383 rs72648907 C T NON_SYNONYMOUS_CODING TTN MODERATE|MISSENSE|cGt/cAt|R4915H|5604|TTN|protein_coding|CODING|ENST00000360870|exon_2_179610047_179616766 . 0/1:99:243,0,255 . . 2 179650408 rs35813871 G A NON_SYNONYMOUS_CODING TTN MODERATE|MISSENSE|aCa/aTa|T765I|26923|TTN|protein_coding|CODING|ENST00000356127|exon_2_179650347_179650469 . 1/1:99:255,90,0 0/1:99:255,0,255 0/1:99:181,0,223 2 179650408 rs35813871 G A NON_SYNONYMOUS_CODING TTN MODERATE|MISSENSE|aCa/aTa|T765I|26926|TTN|protein_coding|CODING|ENST00000460472|exon_2_179650347_179650469 . 1/1:99:255,90,0 0/1:99:255,0,255 0/1:99:181,0,223 2 179650408 rs35813871 G A NON_SYNONYMOUS_CODING TTN MODERATE|MISSENSE|aCa/aTa|T765I|27051|TTN|protein_coding|CODING|ENST00000359218|exon_2_179650347_179650469 . 1/1:99:255,90,0 0/1:99:255,0,255 0/1:99:181,0,223 2 179650408 rs35813871 G A NON_SYNONYMOUS_CODING TTN MODERATE|MISSENSE|aCa/aTa|T765I|27118|TTN|protein_coding|CODING|ENST00000342175|exon_2_179650347_179650469 . 1/1:99:255,90,0 0/1:99:255,0,255 0/1:99:181,0,223 2 179650408 rs35813871 G A NON_SYNONYMOUS_CODING TTN MODERATE|MISSENSE|aCa/aTa|T811I|33423|TTN|protein_coding|CODING|ENST00000342992|exon_2_179650347_179650469 . 1/1:99:255,90,0 0/1:99:255,0,255 0/1:99:181,0,223 2 179650408 rs35813871 G A NON_SYNONYMOUS_CODING TTN MODERATE|MISSENSE|aCa/aTa|T811I|5604|TTN|protein_coding|CODING|ENST00000360870|exon_2_179650347_179650469 . 1/1:99:255,90,0 0/1:99:255,0,255 0/1:99:181,0,223 2 179658175 rs72647851 C T NON_SYNONYMOUS_CODING TTN MODERATE|MISSENSE|Gta/Ata|V498I|26923|TTN|protein_coding|CODING|ENST00000356127|exon_2_179658131_179658268 . . . 0/1:99:219,0,255 2 179658175 rs72647851 C T NON_SYNONYMOUS_CODING TTN MODERATE|MISSENSE|Gta/Ata|V498I|26926|TTN|protein_coding|CODING|ENST00000460472|exon_2_179658131_179658268 . . . 0/1:99:219,0,255 2 179658175 rs72647851 C T NON_SYNONYMOUS_CODING TTN MODERATE|MISSENSE|Gta/Ata|V498I|27051|TTN|protein_coding|CODING|ENST00000359218|exon_2_179658131_179658268 . . . 0/1:99:219,0,255 2 179658175 rs72647851 C T NON_SYNONYMOUS_CODING TTN MODERATE|MISSENSE|Gta/Ata|V498I|27118|TTN|protein_coding|CODING|ENST00000342175|exon_2_179658131_179658268 . . . 0/1:99:219,0,255 2 179658175 rs72647851 C T NON_SYNONYMOUS_CODING TTN MODERATE|MISSENSE|Gta/Ata|V498I|33423|TTN|protein_coding|CODING|ENST00000342992|exon_2_179658131_179658268 . . . 0/1:99:219,0,255 2 179658175 rs72647851 C T NON_SYNONYMOUS_CODING TTN MODERATE|MISSENSE|Gta/Ata|V498I|5604|TTN|protein_coding|CODING|ENST00000360870|exon_2_179658131_179658268 . . . 0/1:99:219,0,255 2 179658175 rs72647851 C T NON_SYNONYMOUS_CODING TTN MODERATE|MISSENSE|Gta/Ata|V94I|212|TTN|protein_coding|CODING|ENST00000436599|exon_2_179658131_179658268 . . . 0/1:99:219,0,255 2 179721046 rs17362588 G A NON_SYNONYMOUS_CODING CCDC141 MODERATE|MISSENSE|Cgg/Tgg|R360W|875|CCDC141|protein_coding|CODING|ENST00000295723|exon_2_179720984_179721124 0/1:99:255,0,255 . . . 2 179721046 rs17362588 G A NON_SYNONYMOUS_CODING CCDC141 MODERATE|MISSENSE|Cgg/Tgg|R379W|894|CCDC141|protein_coding|CODING|ENST00000343876|exon_2_179720984_179721124 0/1:99:255,0,255 . . . 2 179721046 rs17362588 G A NON_SYNONYMOUS_CODING CCDC141 MODERATE|MISSENSE|Cgg/Tgg|R935W|1530|CCDC141|protein_coding|CODING|ENST00000420890|exon_2_179720984_179721124 0/1:99:255,0,255 . . . 2 179721046 rs17362588 G A NON_SYNONYMOUS_CODING CCDC141 MODERATE|MISSENSE|Cgg/Tgg|R935W|954|CCDC141|protein_coding|CODING|ENST00000443758|exon_2_179720984_179721124 0/1:99:255,0,255 . . . 2 180634235 rs148987445 C A NON_SYNONYMOUS_CODING ZNF385B MODERATE|MISSENSE|aGc/aTc|S83I|471|ZNF385B|protein_coding|CODING|ENST00000410066|exon_2_180634230_180634529 . . 0/1:99:241,0,228 . 2 180835508 . A G NON_SYNONYMOUS_CODING CWC22 MODERATE|MISSENSE|aTg/aCg|M339T|744|CWC22|protein_coding|CODING|ENST00000404136|exon_2_180835377_180835583 0/1:99:255,0,200 . . . 2 180835508 . A G NON_SYNONYMOUS_CODING CWC22 MODERATE|MISSENSE|aTg/aCg|M339T|908|CWC22|protein_coding|CODING|ENST00000295749|exon_2_180835377_180835583 0/1:99:255,0,200 . . . 2 180835508 . A G NON_SYNONYMOUS_CODING CWC22 MODERATE|MISSENSE|aTg/aCg|M339T|908|CWC22|protein_coding|CODING|ENST00000410053|exon_2_180835377_180835583 0/1:99:255,0,200 . . . 2 182396457 rs56194996 C A NON_SYNONYMOUS_CODING ITGA4 MODERATE|MISSENSE|gCc/gAc|A913D|1032|ITGA4|protein_coding|CODING|ENST00000397033|exon_2_182396384_182396503 . 0/1:99:255,0,255 . . 2 183731193 rs36077496 C A NON_SYNONYMOUS_CODING FRZB MODERATE|MISSENSE|Gct/Tct|A30S|325|FRZB|protein_coding|CODING|ENST00000295113|exon_2_183730803_183731890 . . 0/1:99:163,0,168 . 2 186658089 rs74508015 C A NON_SYNONYMOUS_CODING FSIP2 MODERATE|MISSENSE|Ctg/Atg|L2076M|3465|FSIP2|protein_coding|CODING|ENST00000326147|exon_2_186653370_186662257 0/1:99:255,0,255 . . . 2 186658089 rs74508015 C A NON_SYNONYMOUS_CODING FSIP2 MODERATE|MISSENSE|Ctg/Atg|L2076M|6907|FSIP2|protein_coding|CODING|ENST00000424728|exon_2_186653370_186662253 0/1:99:255,0,255 . . . 2 186658089 rs74508015 C A NON_SYNONYMOUS_CODING FSIP2 MODERATE|MISSENSE|Ctg/Atg|L2165M|6996|FSIP2|protein_coding|CODING|ENST00000343098|exon_2_186653370_186662253 0/1:99:255,0,255 . . . 2 186661399 rs115715789 A G NON_SYNONYMOUS_CODING FSIP2 MODERATE|MISSENSE|aAt/aGt|N3179S|3465|FSIP2|protein_coding|CODING|ENST00000326147|exon_2_186653370_186662257 0/1:99:250,0,255 . . . 2 186661399 rs115715789 A G NON_SYNONYMOUS_CODING FSIP2 MODERATE|MISSENSE|aAt/aGt|N3179S|6907|FSIP2|protein_coding|CODING|ENST00000424728|exon_2_186653370_186662253 0/1:99:250,0,255 . . . 2 186661399 rs115715789 A G NON_SYNONYMOUS_CODING FSIP2 MODERATE|MISSENSE|aAt/aGt|N3268S|6996|FSIP2|protein_coding|CODING|ENST00000343098|exon_2_186653370_186662253 0/1:99:250,0,255 . . . 2 187559060 . CAA CAAAAA CODON_INSERTION FAM171B MODERATE||-/AAA|-55K|427|FAM171B|protein_coding|CODING|ENST00000272804|exon_2_187558789_187559138 . . . 0/1:99:163,0,127 2 187559060 . CAA CAAAAA CODON_INSERTION FAM171B MODERATE||-/AAA|-55K|826|FAM171B|protein_coding|CODING|ENST00000304698|exon_2_187558698_187559138 . . . 0/1:99:163,0,127 2 187692983 rs17856918 T C NON_SYNONYMOUS_CODING ZSWIM2 MODERATE|MISSENSE|Atg/Gtg|M544V|633|ZSWIM2|protein_coding|CODING|ENST00000295131|exon_2_187692562_187693517 . 0/1:99:238,0,230 0/1:99:151,0,255 . 2 187693003 rs10195632 A T NON_SYNONYMOUS_CODING ZSWIM2 MODERATE|MISSENSE|tTt/tAt|F537Y|633|ZSWIM2|protein_coding|CODING|ENST00000295131|exon_2_187692562_187693517 . 0/1:99:239,0,255 0/1:99:183,0,255 . 2 187693155 rs10195758 A T NON_SYNONYMOUS_CODING ZSWIM2 MODERATE|MISSENSE|gaT/gaA|D486E|633|ZSWIM2|protein_coding|CODING|ENST00000295131|exon_2_187692562_187693517 . 0/1:99:255,0,255 0/1:99:255,0,255 . 2 187697883 rs10164815 A G NON_SYNONYMOUS_CODING ZSWIM2 MODERATE|MISSENSE|aTt/aCt|I302T|633|ZSWIM2|protein_coding|CODING|ENST00000295131|exon_2_187697847_187697959 . 0/1:99:255,0,255 0/1:99:255,0,255 . 2 187698707 rs6434197 C T NON_SYNONYMOUS_CODING ZSWIM2 MODERATE|MISSENSE|tGc/tAc|C265Y|633|ZSWIM2|protein_coding|CODING|ENST00000295131|exon_2_187698673_187698757 . 0/1:99:240,0,255 0/1:99:255,0,255 . 2 191859935 rs41473544 C T NON_SYNONYMOUS_CODING STAT1 MODERATE|MISSENSE|Gtt/Att|V266I|712|STAT1|protein_coding|CODING|ENST00000392322|exon_2_191859787_191859945 . 0/1:99:162,0,255 . . 2 191859935 rs41473544 C T NON_SYNONYMOUS_CODING STAT1 MODERATE|MISSENSE|Gtt/Att|V266I|750|STAT1|protein_coding|CODING|ENST00000361099|exon_2_191859787_191859945 . 0/1:99:162,0,255 . . 2 191859935 rs41473544 C T NON_SYNONYMOUS_CODING STAT1 MODERATE|MISSENSE|Gtt/Att|V266I|750|STAT1|protein_coding|CODING|ENST00000409465|exon_2_191859787_191859945 . 0/1:99:162,0,255 . . 2 191859935 rs41473544 C T NON_SYNONYMOUS_CODING STAT1 MODERATE|MISSENSE|Gtt/Att|V268I|714|STAT1|protein_coding|CODING|ENST00000392323|exon_2_191859787_191859945 . 0/1:99:162,0,255 . . 2 192701407 rs61735649 G C NON_SYNONYMOUS_CODING SDPR MODERATE|MISSENSE|Cag/Gag|Q174E|425|SDPR|protein_coding|CODING|ENST00000304141|exon_2_192699028_192701443 . . 0/1:99:227,0,182 . 2 196852887 rs140508684 C T NON_SYNONYMOUS_CODING DNAH7 MODERATE|MISSENSE|Gaa/Aaa|E474K|4024|DNAH7|protein_coding|CODING|ENST00000312428|exon_2_196852681_196852953 0/1:99:255,0,255 . . . 2 197990741 rs35338671 A C NON_SYNONYMOUS_CODING ANKRD44 MODERATE|MISSENSE|atT/atG|I22M|507|ANKRD44|protein_coding|CODING|ENST00000539527|exon_2_197990561_197990761 0/1:99:255,0,255 . . . 2 197990741 rs35338671 A C NON_SYNONYMOUS_CODING ANKRD44 MODERATE|MISSENSE|atT/atG|I69M|75|ANKRD44|protein_coding|CODING|ENST00000443014|exon_2_197990719_197990761 0/1:99:255,0,255 . . . 2 197990741 rs35338671 A C NON_SYNONYMOUS_CODING ANKRD44 MODERATE|MISSENSE|atT/atG|I69M|919|ANKRD44|protein_coding|CODING|ENST00000328737|exon_2_197990561_197990761 0/1:99:255,0,255 . . . 2 197990741 rs35338671 A C NON_SYNONYMOUS_CODING ANKRD44 MODERATE|MISSENSE|atT/atG|I69M|919|ANKRD44|protein_coding|CODING|ENST00000337207|exon_2_197990561_197990761 0/1:99:255,0,255 . . . 2 197990741 rs35338671 A C NON_SYNONYMOUS_CODING ANKRD44 MODERATE|MISSENSE|atT/atG|I69M|919|ANKRD44|protein_coding|CODING|ENST00000450567|exon_2_197990561_197990761 0/1:99:255,0,255 . . . 2 197990741 rs35338671 A C NON_SYNONYMOUS_CODING ANKRD44 MODERATE|MISSENSE|atT/atG|I86M|985|ANKRD44|protein_coding|CODING|ENST00000282272|exon_2_197990561_197990761 0/1:99:255,0,255 . . . 2 197990741 rs35338671 A C NON_SYNONYMOUS_CODING ANKRD44 MODERATE|MISSENSE|atT/atG|I94M|367|ANKRD44|protein_coding|CODING|ENST00000409919|exon_2_197990561_197990761 0/1:99:255,0,255 . . . 2 197990741 rs35338671 A C NON_SYNONYMOUS_CODING ANKRD44 MODERATE|MISSENSE|atT/atG|I94M|579|ANKRD44|protein_coding|CODING|ENST00000409153|exon_2_197990561_197990761 0/1:99:255,0,255 . . . 2 201355106 rs13018579 G A NON_SYNONYMOUS_CODING KCTD18 MODERATE|MISSENSE|gCc/gTc|A333V|426|KCTD18|protein_coding|CODING|ENST00000359878|exon_2_201353675_201355339 0/1:99:223,0,245 0/1:99:241,0,178 . . 2 201355106 rs13018579 G A NON_SYNONYMOUS_CODING KCTD18 MODERATE|MISSENSE|gCc/gTc|A333V|426|KCTD18|protein_coding|CODING|ENST00000409157|exon_2_201353681_201355339 0/1:99:223,0,245 0/1:99:241,0,178 . . 2 201397724 rs1036533 G A NON_SYNONYMOUS_CODING SGOL2 MODERATE|MISSENSE|gGc/gAc|G9D|1265|SGOL2|protein_coding|CODING|ENST00000357799|exon_2_201397697_201397831 0/1:99:255,0,255 . . . 2 201397724 rs1036533 G A NON_SYNONYMOUS_CODING SGOL2 MODERATE|MISSENSE|gGc/gAc|G9D|247|SGOL2|protein_coding|CODING|ENST00000409203|exon_2_201397697_201397831 0/1:99:255,0,255 . . . 2 201397724 rs1036533 G A NON_SYNONYMOUS_CODING SGOL2 MODERATE|MISSENSE|gGc/gAc|G9D|86|SGOL2|protein_coding|CODING|ENST00000418045|exon_2_201397697_201397831 0/1:99:255,0,255 . . . 2 201436555 rs17448235 A G NON_SYNONYMOUS_CODING SGOL2 MODERATE|MISSENSE|Ata/Gta|I496V|1265|SGOL2|protein_coding|CODING|ENST00000357799|exon_2_201435773_201438700 . . 0/1:99:255,0,255 . 2 201437048 rs17532665 A G NON_SYNONYMOUS_CODING SGOL2 MODERATE|MISSENSE|aAc/aGc|N660S|1265|SGOL2|protein_coding|CODING|ENST00000357799|exon_2_201435773_201438700 . . 0/1:99:255,0,255 . 2 203052947 rs35468542 G A NON_SYNONYMOUS_CODING AC079354.1.1 MODERATE|MISSENSE|Gag/Aag|E400K|640|AC079354.1.1|protein_coding|CODING|ENST00000498697|exon_2_203052875_203052989 . 1/1:99:255,99,0 0/1:99:213,0,255 . 2 204599630 . T C NON_SYNONYMOUS_CODING CD28 MODERATE|MISSENSE|Tcc/Ccc|S101P|101|CD28|protein_coding|CODING|ENST00000374478|exon_2_204599507_204599978 . . 0/1:99:185,0,238 . 2 204599630 . T C NON_SYNONYMOUS_CODING CD28 MODERATE|MISSENSE|Tcc/Ccc|S136P|136|CD28|protein_coding|CODING|ENST00000374481|exon_2_204599507_204602557 . . 0/1:99:185,0,238 . 2 204599630 . T C NON_SYNONYMOUS_CODING CD28 MODERATE|MISSENSE|Tcc/Ccc|S220P|220|CD28|protein_coding|CODING|ENST00000324106|exon_2_204599507_204600421 . . 0/1:99:185,0,238 . 2 204599630 . T C NON_SYNONYMOUS_CODING CD28 MODERATE|MISSENSE|Tcc/Ccc|S234P|234|CD28|protein_coding|CODING|ENST00000458610|exon_2_204599507_204599635 . . 0/1:99:185,0,238 . 2 206659474 rs36087789 G A NON_SYNONYMOUS_CODING NRP2 MODERATE|MISSENSE|Gca/Aca|A808T|909|NRP2|protein_coding|CODING|ENST00000540841|exon_2_206659469_206659782 . . 0/1:99:255,0,255 0/1:99:241,0,255 2 207569623 rs116768218 A C NON_SYNONYMOUS_CODING DYTN MODERATE|MISSENSE|Tct/Gct|S143A|578|DYTN|protein_coding|CODING|ENST00000452335|exon_2_207569567_207569667 0/1:99:255,0,255 . . . 2 207631461 rs3762568 G A NON_SYNONYMOUS_CODING FASTKD2 MODERATE|MISSENSE|aGc/aAc|S15N|123|FASTKD2|protein_coding|CODING|ENST00000418289|exon_2_207631368_207631789 . . . 0/1:99:255,0,192 2 207631461 rs3762568 G A NON_SYNONYMOUS_CODING FASTKD2 MODERATE|MISSENSE|aGc/aAc|S15N|710|FASTKD2|protein_coding|CODING|ENST00000236980|exon_2_207631368_207632194 . . . 0/1:99:255,0,192 2 207631461 rs3762568 G A NON_SYNONYMOUS_CODING FASTKD2 MODERATE|MISSENSE|aGc/aAc|S15N|710|FASTKD2|protein_coding|CODING|ENST00000402774|exon_2_207631368_207632194 . . . 0/1:99:255,0,192 2 207631461 rs3762568 G A NON_SYNONYMOUS_CODING FASTKD2 MODERATE|MISSENSE|aGc/aAc|S15N|710|FASTKD2|protein_coding|CODING|ENST00000403094|exon_2_207631368_207632194 . . . 0/1:99:255,0,192 2 207631566 rs141447598 A G NON_SYNONYMOUS_CODING FASTKD2 MODERATE|MISSENSE|aAa/aGa|K50R|123|FASTKD2|protein_coding|CODING|ENST00000418289|exon_2_207631368_207631789 . 0/1:99:255,0,255 . . 2 207631566 rs141447598 A G NON_SYNONYMOUS_CODING FASTKD2 MODERATE|MISSENSE|aAa/aGa|K50R|710|FASTKD2|protein_coding|CODING|ENST00000236980|exon_2_207631368_207632194 . 0/1:99:255,0,255 . . 2 207631566 rs141447598 A G NON_SYNONYMOUS_CODING FASTKD2 MODERATE|MISSENSE|aAa/aGa|K50R|710|FASTKD2|protein_coding|CODING|ENST00000402774|exon_2_207631368_207632194 . 0/1:99:255,0,255 . . 2 207631566 rs141447598 A G NON_SYNONYMOUS_CODING FASTKD2 MODERATE|MISSENSE|aAa/aGa|K50R|710|FASTKD2|protein_coding|CODING|ENST00000403094|exon_2_207631368_207632194 . 0/1:99:255,0,255 . . 2 211068107 . C A NON_SYNONYMOUS_CODING ACADL MODERATE|MISSENSE|aGg/aTg|R311M|430|ACADL|protein_coding|CODING|ENST00000233710|exon_2_211068055_211068168 . 0/1:99:131,0,255 . . 2 216190020 rs2372536 C G NON_SYNONYMOUS_CODING ATIC MODERATE|MISSENSE|aCt/aGt|T115S|591|ATIC|protein_coding|CODING|ENST00000435675|exon_2_216189964_216190052 0/1:99:252,0,255 . 0/1:99:255,0,255 1/1:99:255,90,0 2 216190020 rs2372536 C G NON_SYNONYMOUS_CODING ATIC MODERATE|MISSENSE|aCt/aGt|T116S|592|ATIC|protein_coding|CODING|ENST00000236959|exon_2_216189964_216190052 0/1:99:252,0,255 . 0/1:99:255,0,255 1/1:99:255,90,0 2 216190020 rs2372536 C G NON_SYNONYMOUS_CODING ATIC MODERATE|MISSENSE|aCt/aGt|T57S|169|ATIC|protein_coding|CODING|ENST00000413174|exon_2_216189964_216190052 0/1:99:252,0,255 . 0/1:99:255,0,255 1/1:99:255,90,0 2 216190020 rs2372536 C G NON_SYNONYMOUS_CODING ATIC MODERATE|MISSENSE|aCt/aGt|T57S|533|ATIC|protein_coding|CODING|ENST00000540518|exon_2_216189964_216190052 0/1:99:252,0,255 . 0/1:99:255,0,255 1/1:99:255,90,0 2 216236712 rs17449032 T C NON_SYNONYMOUS_CODING FN1 MODERATE|MISSENSE|Atc/Gtc|I1911V|2176|FN1|protein_coding|CODING|ENST00000357867|exon_2_216236632_216236738 0/1:99:186,0,255 . . . 2 216236712 rs17449032 T C NON_SYNONYMOUS_CODING FN1 MODERATE|MISSENSE|Atc/Gtc|I1975V|2240|FN1|protein_coding|CODING|ENST00000421182|exon_2_216236632_216236738 0/1:99:186,0,255 . . . 2 216236712 rs17449032 T C NON_SYNONYMOUS_CODING FN1 MODERATE|MISSENSE|Atc/Gtc|I2000V|2265|FN1|protein_coding|CODING|ENST00000443816|exon_2_216236632_216236738 0/1:99:186,0,255 . . . 2 216236712 rs17449032 T C NON_SYNONYMOUS_CODING FN1 MODERATE|MISSENSE|Atc/Gtc|I2001V|2031|FN1|protein_coding|CODING|ENST00000357009|exon_2_216236632_216236738 0/1:99:186,0,255 . . . 2 216236712 rs17449032 T C NON_SYNONYMOUS_CODING FN1 MODERATE|MISSENSE|Atc/Gtc|I2001V|2211|FN1|protein_coding|CODING|ENST00000346544|exon_2_216236632_216236738 0/1:99:186,0,255 . . . 2 216236712 rs17449032 T C NON_SYNONYMOUS_CODING FN1 MODERATE|MISSENSE|Atc/Gtc|I2002V|2267|FN1|protein_coding|CODING|ENST00000432072|exon_2_216236632_216236738 0/1:99:186,0,255 . . . 2 216236712 rs17449032 T C NON_SYNONYMOUS_CODING FN1 MODERATE|MISSENSE|Atc/Gtc|I2031V|2296|FN1|protein_coding|CODING|ENST00000356005|exon_2_216236632_216237098 0/1:99:186,0,255 . . . 2 216236712 rs17449032 T C NON_SYNONYMOUS_CODING FN1 MODERATE|MISSENSE|Atc/Gtc|I2065V|2330|FN1|protein_coding|CODING|ENST00000446046|exon_2_216236632_216236738 0/1:99:186,0,255 . . . 2 216236712 rs17449032 T C NON_SYNONYMOUS_CODING FN1 MODERATE|MISSENSE|Atc/Gtc|I2090V|2355|FN1|protein_coding|CODING|ENST00000336916|exon_2_216236632_216236738 0/1:99:186,0,255 . . . 2 216236712 rs17449032 T C NON_SYNONYMOUS_CODING FN1 MODERATE|MISSENSE|Atc/Gtc|I2121V|2386|FN1|protein_coding|CODING|ENST00000359671|exon_2_216236632_216237098 0/1:99:186,0,255 . . . 2 216236712 rs17449032 T C NON_SYNONYMOUS_CODING FN1 MODERATE|MISSENSE|Atc/Gtc|I2122V|2387|FN1|protein_coding|CODING|ENST00000265313|exon_2_216236632_216237098 0/1:99:186,0,255 . . . 2 216236712 rs17449032 T C NON_SYNONYMOUS_CODING FN1 MODERATE|MISSENSE|Atc/Gtc|I215V|240|FN1|protein_coding|CODING|ENST00000438981|exon_2_216236632_216237023 0/1:99:186,0,255 . . . 2 216236712 rs17449032 T C NON_SYNONYMOUS_CODING FN1 MODERATE|MISSENSE|Atc/Gtc|I2181V|2446|FN1|protein_coding|CODING|ENST00000323926|exon_2_216236632_216236738 0/1:99:186,0,255 . . . 2 216236712 rs17449032 T C NON_SYNONYMOUS_CODING FN1 MODERATE|MISSENSE|Atc/Gtc|I2212V|2477|FN1|protein_coding|CODING|ENST00000354785|exon_2_216236632_216237098 0/1:99:186,0,255 . . . 2 216236712 rs17449032 T C NON_SYNONYMOUS_CODING FN1 MODERATE|MISSENSE|Atc/Gtc|I838V|1103|FN1|protein_coding|CODING|ENST00000456923|exon_2_216236632_216237098 0/1:99:186,0,255 . . . 2 218745717 rs138239490 C G NON_SYNONYMOUS_CODING TNS1 MODERATE|MISSENSE|Ggg/Cgg|G320R|1714|TNS1|protein_coding|CODING|ENST00000430930|exon_2_218745621_218745737 . . 0/1:99:110,0,215 . 2 218745717 rs138239490 C G NON_SYNONYMOUS_CODING TNS1 MODERATE|MISSENSE|Ggg/Cgg|G320R|1721|TNS1|protein_coding|CODING|ENST00000419504|exon_2_218745621_218745737 . . 0/1:99:110,0,215 . 2 218745717 rs138239490 C G NON_SYNONYMOUS_CODING TNS1 MODERATE|MISSENSE|Ggg/Cgg|G320R|1735|TNS1|protein_coding|CODING|ENST00000171887|exon_2_218745621_218745737 . . 0/1:99:110,0,215 . 2 218745717 rs138239490 C G NON_SYNONYMOUS_CODING TNS1 MODERATE|MISSENSE|Ggg/Cgg|G351R|416|TNS1|protein_coding|CODING|ENST00000310858|exon_2_218745621_218745737 . . 0/1:99:110,0,215 . 2 218745717 rs138239490 C G NON_SYNONYMOUS_CODING TNS1 MODERATE|MISSENSE|Ggg/Cgg|G388R|486|TNS1|protein_coding|CODING|ENST00000413554|exon_2_218745621_218745737 . . 0/1:99:110,0,215 . 2 218745717 rs138239490 C G NON_SYNONYMOUS_CODING TNS1 MODERATE|MISSENSE|Ggg/Cgg|G445R|779|TNS1|protein_coding|CODING|ENST00000446903|exon_2_218745621_218745737 . . 0/1:99:110,0,215 . 2 218762616 rs41272679 C T NON_SYNONYMOUS_CODING TNS1 MODERATE|MISSENSE|Gtc/Atc|V150I|779|TNS1|protein_coding|CODING|ENST00000446903|exon_2_218762521_218762692 . . . 0/1:99:171,0,255 2 218762616 rs41272679 C T NON_SYNONYMOUS_CODING TNS1 MODERATE|MISSENSE|Gtc/Atc|V25I|101|TNS1|protein_coding|CODING|ENST00000413280|exon_2_218762521_218762692 . . . 0/1:99:171,0,255 2 218762616 rs41272679 C T NON_SYNONYMOUS_CODING TNS1 MODERATE|MISSENSE|Gtc/Atc|V25I|1714|TNS1|protein_coding|CODING|ENST00000430930|exon_2_218762521_218762692 . . . 0/1:99:171,0,255 2 218762616 rs41272679 C T NON_SYNONYMOUS_CODING TNS1 MODERATE|MISSENSE|Gtc/Atc|V25I|1721|TNS1|protein_coding|CODING|ENST00000419504|exon_2_218762521_218762692 . . . 0/1:99:171,0,255 2 218762616 rs41272679 C T NON_SYNONYMOUS_CODING TNS1 MODERATE|MISSENSE|Gtc/Atc|V25I|1735|TNS1|protein_coding|CODING|ENST00000171887|exon_2_218762521_218762692 . . . 0/1:99:171,0,255 2 218762616 rs41272679 C T NON_SYNONYMOUS_CODING TNS1 MODERATE|MISSENSE|Gtc/Atc|V25I|60|TNS1|protein_coding|CODING|ENST00000439083|exon_2_218762521_218762692 . . . 0/1:99:171,0,255 2 218762616 rs41272679 C T NON_SYNONYMOUS_CODING TNS1 MODERATE|MISSENSE|Gtc/Atc|V56I|416|TNS1|protein_coding|CODING|ENST00000310858|exon_2_218762521_218762692 . . . 0/1:99:171,0,255 2 218762616 rs41272679 C T NON_SYNONYMOUS_CODING TNS1 MODERATE|MISSENSE|Gtc/Atc|V90I|121|TNS1|protein_coding|CODING|ENST00000423413|exon_2_218762518_218762692 . . . 0/1:99:171,0,255 2 218762616 rs41272679 C T NON_SYNONYMOUS_CODING TNS1 MODERATE|MISSENSE|Gtc/Atc|V93I|486|TNS1|protein_coding|CODING|ENST00000413554|exon_2_218762521_218762692 . . . 0/1:99:171,0,255 2 218855775 rs149308317 T C NON_SYNONYMOUS_CODING TNS1 MODERATE|MISSENSE|gAg/gGg|E13G|779|TNS1|protein_coding|CODING|ENST00000446903|exon_2_218855665_218855779 . 0/1:99:214,0,141 . . 2 219294124 rs148353573 C A NON_SYNONYMOUS_CODING VIL1 MODERATE|MISSENSE|caC/caA|H228Q|421|VIL1|protein_coding|CODING|ENST00000440053|exon_2_219294008_219294210 . . 0/1:99:244,0,255 . 2 219294124 rs148353573 C A NON_SYNONYMOUS_CODING VIL1 MODERATE|MISSENSE|caC/caA|H228Q|827|VIL1|protein_coding|CODING|ENST00000248444|exon_2_219294008_219294210 . . 0/1:99:244,0,255 . 2 219617651 . C G NON_SYNONYMOUS_CODING TTLL4 MODERATE|MISSENSE|Ctc/Gtc|L1048V|1199|TTLL4|protein_coding|CODING|ENST00000258398|exon_2_219617486_219617696 . . . 0/1:99:200,0,203 2 219617651 . C G NON_SYNONYMOUS_CODING TTLL4 MODERATE|MISSENSE|Ctc/Gtc|L1048V|1199|TTLL4|protein_coding|CODING|ENST00000392102|exon_2_219617486_219617696 . . . 0/1:99:200,0,203 2 219617651 . C G NON_SYNONYMOUS_CODING TTLL4 MODERATE|MISSENSE|Ctc/Gtc|L883V|973|TTLL4|protein_coding|CODING|ENST00000457313|exon_2_219617486_219617696 . . . 0/1:99:200,0,203 2 219617651 . C G NON_SYNONYMOUS_CODING TTLL4 MODERATE|MISSENSE|Ctc/Gtc|L984V|1135|TTLL4|protein_coding|CODING|ENST00000442769|exon_2_219617486_219617696 . . . 0/1:99:200,0,203 2 219736369 rs141494427 C G NON_SYNONYMOUS_CODING WNT6 MODERATE|MISSENSE|cCt/cGt|P155R|365|WNT6|protein_coding|CODING|ENST00000233948|exon_2_219736207_219736541 . . 0/1:50:110,0,47 . 2 219755011 rs121908120 T A NON_SYNONYMOUS_CODING WNT10A MODERATE|MISSENSE|Ttt/Att|F228I|417|WNT10A|protein_coding|CODING|ENST00000258411|exon_2_219754706_219755085 . . 0/1:99:255,0,211 0/1:99:130,0,195 2 219857784 . G A NON_SYNONYMOUS_CODING CRYBA2 MODERATE|MISSENSE|Cgc/Tgc|R39C|127|CRYBA2|protein_coding|CODING|ENST00000453769|exon_2_219857738_219857978 . . 0/1:99:255,0,182 . 2 219857784 . G A NON_SYNONYMOUS_CODING CRYBA2 MODERATE|MISSENSE|Cgc/Tgc|R39C|197|CRYBA2|protein_coding|CODING|ENST00000295728|exon_2_219857738_219858135 . . 0/1:99:255,0,182 . 2 219857784 . G A NON_SYNONYMOUS_CODING CRYBA2 MODERATE|MISSENSE|Cgc/Tgc|R39C|197|CRYBA2|protein_coding|CODING|ENST00000392096|exon_2_219857738_219857902 . . 0/1:99:255,0,182 . 2 220087441 rs2276635 T C NON_SYNONYMOUS_CODING ATG9A MODERATE|MISSENSE|Agc/Ggc|S151G|243|ATG9A|protein_coding|CODING|ENST00000429920|exon_2_220087367_220087615 . . 0/1:99:225,0,157 0/1:99:192,0,255 2 220087441 rs2276635 T C NON_SYNONYMOUS_CODING ATG9A MODERATE|MISSENSE|Agc/Ggc|S531G|778|ATG9A|protein_coding|CODING|ENST00000409422|exon_2_220087367_220087615 . . 0/1:99:225,0,157 0/1:99:192,0,255 2 220087441 rs2276635 T C NON_SYNONYMOUS_CODING ATG9A MODERATE|MISSENSE|Agc/Ggc|S592G|839|ATG9A|protein_coding|CODING|ENST00000361242|exon_2_220087367_220087615 . . 0/1:99:225,0,157 0/1:99:192,0,255 2 220087441 rs2276635 T C NON_SYNONYMOUS_CODING ATG9A MODERATE|MISSENSE|Agc/Ggc|S592G|839|ATG9A|protein_coding|CODING|ENST00000396761|exon_2_220087367_220087615 . . 0/1:99:225,0,157 0/1:99:192,0,255 2 220087441 rs2276635 T C NON_SYNONYMOUS_CODING ATG9A MODERATE|MISSENSE|Agc/Ggc|S592G|839|ATG9A|protein_coding|CODING|ENST00000409618|exon_2_220087367_220087615 . . 0/1:99:225,0,157 0/1:99:192,0,255 2 220100201 rs2293075 C G NON_SYNONYMOUS_CODING ANKZF1 MODERATE|MISSENSE|tCt/tGt|S356C|516|ANKZF1|protein_coding|CODING|ENST00000409849|exon_2_220100196_220100307 0/1:99:233,0,199 . . . 2 220100201 rs2293075 C G NON_SYNONYMOUS_CODING ANKZF1 MODERATE|MISSENSE|tCt/tGt|S566C|726|ANKZF1|protein_coding|CODING|ENST00000323348|exon_2_220100196_220100307 0/1:99:233,0,199 . . . 2 220100201 rs2293075 C G NON_SYNONYMOUS_CODING ANKZF1 MODERATE|MISSENSE|tCt/tGt|S566C|726|ANKZF1|protein_coding|CODING|ENST00000410034|exon_2_220100196_220100307 0/1:99:233,0,199 . . . 2 220113159 rs17849638 C T NON_SYNONYMOUS_CODING STK16 MODERATE|MISSENSE|Cgg/Tgg|R148W|187|STK16|protein_coding|CODING|ENST00000409516|exon_2_220113143_220113468 . . 0/1:99:169,0,170 . 2 220113159 rs17849638 C T NON_SYNONYMOUS_CODING STK16 MODERATE|MISSENSE|Cgg/Tgg|R234W|273|STK16|protein_coding|CODING|ENST00000409743|exon_2_220113143_220113424 . . 0/1:99:169,0,170 . 2 220113159 rs17849638 C T NON_SYNONYMOUS_CODING STK16 MODERATE|MISSENSE|Cgg/Tgg|R266W|305|STK16|protein_coding|CODING|ENST00000396738|exon_2_220113143_220113614 . . 0/1:99:169,0,170 . 2 220113159 rs17849638 C T NON_SYNONYMOUS_CODING STK16 MODERATE|MISSENSE|Cgg/Tgg|R266W|305|STK16|protein_coding|CODING|ENST00000409638|exon_2_220113143_220115059 . . 0/1:99:169,0,170 . 2 220113159 rs17849638 C T NON_SYNONYMOUS_CODING STK16 MODERATE|MISSENSE|Cgg/Tgg|R311W|350|STK16|protein_coding|CODING|ENST00000409260|exon_2_220113143_220113613 . . 0/1:99:169,0,170 . 2 220251685 rs11539909 T G NON_SYNONYMOUS_CODING DNPEP MODERATE|MISSENSE|Aac/Cac|N36H|272|DNPEP|protein_coding|CODING|ENST00000429013|exon_2_220251614_220251702 . 0/1:99:239,0,205 . . 2 220251685 rs11539909 T G NON_SYNONYMOUS_CODING DNPEP MODERATE|MISSENSE|Aac/Cac|N36H|88|DNPEP|protein_coding|CODING|ENST00000519905|exon_2_220251614_220251702 . 0/1:99:239,0,205 . . 2 220251685 rs11539909 T G NON_SYNONYMOUS_CODING DNPEP MODERATE|MISSENSE|Aac/Cac|N50H|223|DNPEP|protein_coding|CODING|ENST00000521459|exon_2_220251614_220251702 . 0/1:99:239,0,205 . . 2 220251685 rs11539909 T G NON_SYNONYMOUS_CODING DNPEP MODERATE|MISSENSE|Aac/Cac|N50H|269|DNPEP|protein_coding|CODING|ENST00000322176|exon_2_220251614_220251702 . 0/1:99:239,0,205 . . 2 220251685 rs11539909 T G NON_SYNONYMOUS_CODING DNPEP MODERATE|MISSENSE|Aac/Cac|N50H|441|DNPEP|protein_coding|CODING|ENST00000337010|exon_2_220251614_220251702 . 0/1:99:239,0,205 . . 2 220251685 rs11539909 T G NON_SYNONYMOUS_CODING DNPEP MODERATE|MISSENSE|Aac/Cac|N50H|485|DNPEP|protein_coding|CODING|ENST00000273075|exon_2_220251614_220251702 . 0/1:99:239,0,205 . . 2 220251685 rs11539909 T G NON_SYNONYMOUS_CODING DNPEP MODERATE|MISSENSE|Aac/Cac|N58H|330|DNPEP|protein_coding|CODING|ENST00000457935|exon_2_220251614_220251702 . 0/1:99:239,0,205 . . 2 220251685 rs11539909 T G NON_SYNONYMOUS_CODING DNPEP MODERATE|MISSENSE|Aac/Cac|N58H|493|DNPEP|protein_coding|CODING|ENST00000523282|exon_2_220251614_220251702 . 0/1:99:239,0,205 . . 2 220284876 rs41272699 C T NON_SYNONYMOUS_CODING DES MODERATE|MISSENSE|gCg/gTg|A213V|470|DES|protein_coding|CODING|ENST00000373960|exon_2_220284817_220284877 . . . 0/1:99:133,0,203 2 220432957 rs35009641 G A NON_SYNONYMOUS_CODING OBSL1 MODERATE|MISSENSE|Cgc/Tgc|R368C|1025|OBSL1|protein_coding|CODING|ENST00000373873|exon_2_220432777_220433046 . . . 0/1:99:169,0,200 2 220432957 rs35009641 G A NON_SYNONYMOUS_CODING OBSL1 MODERATE|MISSENSE|Cgc/Tgc|R368C|1401|OBSL1|protein_coding|CODING|ENST00000265318|exon_2_220432777_220433046 . . . 0/1:99:169,0,200 2 220432957 rs35009641 G A NON_SYNONYMOUS_CODING OBSL1 MODERATE|MISSENSE|Cgc/Tgc|R368C|1804|OBSL1|protein_coding|CODING|ENST00000373876|exon_2_220432777_220433046 . . . 0/1:99:169,0,200 2 220432957 rs35009641 G A NON_SYNONYMOUS_CODING OBSL1 MODERATE|MISSENSE|Cgc/Tgc|R368C|1896|OBSL1|protein_coding|CODING|ENST00000404537|exon_2_220432777_220433046 . . . 0/1:99:169,0,200 2 220439916 rs12720062 G A NON_SYNONYMOUS_CODING INHA MODERATE|MISSENSE|Gct/Act|A257T|366|INHA|protein_coding|CODING|ENST00000243786|exon_2_220439416_220440435 . 0/1:99:225,0,255 . . 2 220521277 rs6744239 G C NON_SYNONYMOUS_CODING DNPEP MODERATE|MISSENSE|ttC/ttG|F23L|378|DNPEP|protein_coding|CODING|ENST00000535056|exon_2_220521261_220521309 . . 0/1:99:234,0,172 . 2 220521299 . GACAGAGAAACATGAAAAA GA CODON_DELETION DNPEP MODERATE||gatgtttctctg/-|DVSL13-|378|DNPEP|protein_coding|CODING|ENST00000535056|exon_2_220521261_220521309 . . 0/1:99:175,0,255 . 2 223559089 rs1868024 T C NON_SYNONYMOUS_CODING MOGAT1 MODERATE|MISSENSE|Tca/Cca|S163P|335|MOGAT1|protein_coding|CODING|ENST00000446656|exon_2_223559081_223559255 . . 0/1:99:240,0,255 0/1:99:255,0,255 2 223559228 rs199884362 G A NON_SYNONYMOUS_CODING MOGAT1 MODERATE|MISSENSE|gGa/gAa|G209E|335|MOGAT1|protein_coding|CODING|ENST00000446656|exon_2_223559081_223559255 . . . 0/1:99:255,0,234 2 227660544 rs1801278 C T NON_SYNONYMOUS_CODING IRS1 MODERATE|MISSENSE|Ggg/Agg|G971R|1242|IRS1|protein_coding|CODING|ENST00000305123|exon_2_227659705_227664475 . . 0/1:99:151,0,255 . 2 227729737 rs35731955 G A NON_SYNONYMOUS_CODING RHBDD1 MODERATE|MISSENSE|Gca/Aca|A110T|123|RHBDD1|protein_coding|CODING|ENST00000448992|exon_2_227729320_227729781 0/1:99:255,0,250 . . . 2 227729737 rs35731955 G A NON_SYNONYMOUS_CODING RHBDD1 MODERATE|MISSENSE|Gca/Aca|A110T|133|RHBDD1|protein_coding|CODING|ENST00000424132|exon_2_227729320_227729813 0/1:99:255,0,250 . . . 2 227729737 rs35731955 G A NON_SYNONYMOUS_CODING RHBDD1 MODERATE|MISSENSE|Gca/Aca|A110T|150|RHBDD1|protein_coding|CODING|ENST00000423616|exon_2_227729346_227729842 0/1:99:255,0,250 . . . 2 227729737 rs35731955 G A NON_SYNONYMOUS_CODING RHBDD1 MODERATE|MISSENSE|Gca/Aca|A110T|315|RHBDD1|protein_coding|CODING|ENST00000341329|exon_2_227729320_227729842 0/1:99:255,0,250 . . . 2 227729737 rs35731955 G A NON_SYNONYMOUS_CODING RHBDD1 MODERATE|MISSENSE|Gca/Aca|A110T|315|RHBDD1|protein_coding|CODING|ENST00000392062|exon_2_227729320_227729842 0/1:99:255,0,250 . . . 2 227920747 rs150979437 C T NON_SYNONYMOUS_CODING COL4A4 MODERATE|MISSENSE|cGg/cAg|R877Q|1687|COL4A4|protein_coding|CODING|ENST00000329662|exon_2_227920661_227920831 . . 0/1:99:170,0,223 . 2 227920747 rs150979437 C T NON_SYNONYMOUS_CODING COL4A4 MODERATE|MISSENSE|cGg/cAg|R877Q|1690|COL4A4|protein_coding|CODING|ENST00000396625|exon_2_227920661_227920831 . . 0/1:99:170,0,223 . 2 228163453 rs57611801 C A NON_SYNONYMOUS_CODING COL4A3 MODERATE|MISSENSE|gaC/gaA|D1269E|1424|COL4A3|protein_coding|CODING|ENST00000396574|exon_2_228163398_228163528 . . . 0/1:99:255,0,255 2 228163453 rs57611801 C A NON_SYNONYMOUS_CODING COL4A3 MODERATE|MISSENSE|gaC/gaA|D1269E|1494|COL4A3|protein_coding|CODING|ENST00000335583|exon_2_228163398_228163528 . . . 0/1:99:255,0,255 2 228163453 rs57611801 C A NON_SYNONYMOUS_CODING COL4A3 MODERATE|MISSENSE|gaC/gaA|D1269E|1498|COL4A3|protein_coding|CODING|ENST00000315699|exon_2_228163398_228163528 . . . 0/1:99:255,0,255 2 228163453 rs57611801 C A NON_SYNONYMOUS_CODING COL4A3 MODERATE|MISSENSE|gaC/gaA|D1269E|1637|COL4A3|protein_coding|CODING|ENST00000328380|exon_2_228163398_228163528 . . . 0/1:99:255,0,255 2 228163453 rs57611801 C A NON_SYNONYMOUS_CODING COL4A3 MODERATE|MISSENSE|gaC/gaA|D1269E|1670|COL4A3|protein_coding|CODING|ENST00000396578|exon_2_228163398_228163528 . . . 0/1:99:255,0,255 2 228175618 . T G NON_SYNONYMOUS_CODING COL4A3 MODERATE|MISSENSE|Tcc/Gcc|S1628A|1670|COL4A3|protein_coding|CODING|ENST00000396578|exon_2_228175492_228175664 0/1:99:255,0,248 . . . 2 228560645 rs117864472 T C NON_SYNONYMOUS_CODING SLC19A3 MODERATE|MISSENSE|Ata/Gta|I374V|492|SLC19A3|protein_coding|CODING|ENST00000541617|exon_2_228560605_228560797 0/1:99:239,0,255 . . . 2 228560645 rs117864472 T C NON_SYNONYMOUS_CODING SLC19A3 MODERATE|MISSENSE|Ata/Gta|I378V|496|SLC19A3|protein_coding|CODING|ENST00000258403|exon_2_228560605_228560797 0/1:99:239,0,255 . . . 2 228560728 rs34507036 A G NON_SYNONYMOUS_CODING SLC19A3 MODERATE|MISSENSE|gTg/gCg|V346A|492|SLC19A3|protein_coding|CODING|ENST00000541617|exon_2_228560605_228560797 0/1:99:174,0,215 . . . 2 228560728 rs34507036 A G NON_SYNONYMOUS_CODING SLC19A3 MODERATE|MISSENSE|gTg/gCg|V350A|496|SLC19A3|protein_coding|CODING|ENST00000258403|exon_2_228560605_228560797 0/1:99:174,0,215 . . . 2 230841000 rs201887524 G A NON_SYNONYMOUS_CODING FBXO36 MODERATE|MISSENSE|cGa/cAa|R16Q|157|FBXO36|protein_coding|CODING|ENST00000373652|exon_2_230840957_230841065 0/1:99:255,0,250 . . . 2 230841000 rs201887524 G A NON_SYNONYMOUS_CODING FBXO36 MODERATE|MISSENSE|cGa/cAa|R47Q|168|FBXO36|protein_coding|CODING|ENST00000409992|exon_2_230840957_230841065 0/1:99:255,0,250 . . . 2 230841000 rs201887524 G A NON_SYNONYMOUS_CODING FBXO36 MODERATE|MISSENSE|cGa/cAa|R47Q|188|FBXO36|protein_coding|CODING|ENST00000283946|exon_2_230840957_230841065 0/1:99:255,0,250 . . . 2 230911292 rs62191755 C A NON_SYNONYMOUS_CODING SLC16A14 MODERATE|MISSENSE|Gca/Tca|A184S|484|SLC16A14|protein_coding|CODING|ENST00000412034|exon_2_230910386_230911438 . . . 0/1:99:255,0,255 2 230911292 rs62191755 C A NON_SYNONYMOUS_CODING SLC16A14 MODERATE|MISSENSE|Gca/Tca|A184S|488|SLC16A14|protein_coding|CODING|ENST00000457406|exon_2_230910373_230911438 . . . 0/1:99:255,0,255 2 230911292 rs62191755 C A NON_SYNONYMOUS_CODING SLC16A14 MODERATE|MISSENSE|Gca/Tca|A184S|510|SLC16A14|protein_coding|CODING|ENST00000295190|exon_2_230910461_230911438 . . . 0/1:99:255,0,255 2 231036860 rs3948463 C T NON_SYNONYMOUS_CODING SP110 MODERATE|MISSENSE|atG/atA|M579I|689|SP110|protein_coding|CODING|ENST00000358662|exon_2_231036782_231036890 . . . 0/1:99:241,0,132 2 231036860 rs3948463 C T NON_SYNONYMOUS_CODING SP110 MODERATE|MISSENSE|atG/atA|M579I|713|SP110|protein_coding|CODING|ENST00000258381|exon_2_231036782_231036890 . . . 0/1:99:241,0,132 2 232393202 rs148927167 T C NON_SYNONYMOUS_CODING NMUR1 MODERATE|MISSENSE|cAt/cGt|H177R|426|NMUR1|protein_coding|CODING|ENST00000305141|exon_2_232392834_232393728 . . . 0/1:99:175,0,215 2 233243586 rs1130335 C T NON_SYNONYMOUS_CODING ALPP MODERATE|MISSENSE|cCa/cTa|P25L|535|ALPP|protein_coding|CODING|ENST00000392027|exon_2_233243244_233243588 . . 0/1:99:157,0,193 0/1:99:125,0,135 2 233245026 rs2853378 G A NON_SYNONYMOUS_CODING ALPP MODERATE|MISSENSE|cGc/cAc|R263H|535|ALPP|protein_coding|CODING|ENST00000392027|exon_2_233244896_233245030 . . 0/1:39:109,0,36 0/1:98:117,0,95 2 233273011 rs75920311 C G NON_SYNONYMOUS_CODING ALPPL2 MODERATE|MISSENSE|cCc/cGc|P228R|532|ALPPL2|protein_coding|CODING|ENST00000295453|exon_2_233272977_233273111 0/1:58:55,0,133 . . . 2 233273107 rs1130346 A G NON_SYNONYMOUS_CODING ALPPL2 MODERATE|MISSENSE|cAc/cGc|H260R|532|ALPPL2|protein_coding|CODING|ENST00000295453|exon_2_233272977_233273111 . 0/1:62:59,0,167 . . 2 233273244 rs17416141 C A NON_SYNONYMOUS_CODING ALPPL2 MODERATE|MISSENSE|Ctg/Atg|L273M|532|ALPPL2|protein_coding|CODING|ENST00000295453|exon_2_233273211_233273283 0/1:84:121,0,81 0/1:84:81,0,244 0/1:99:214,0,198 . 2 233274475 rs56080708 C A NON_SYNONYMOUS_CODING ALPPL2 MODERATE|MISSENSE|Cgc/Agc|R498S|532|ALPPL2|protein_coding|CODING|ENST00000295453|exon_2_233274284_233275424 . . 0/1:99:181,0,193 . 2 233274476 rs114768772 G C NON_SYNONYMOUS_CODING ALPPL2 MODERATE|MISSENSE|cGc/cCc|R498P|532|ALPPL2|protein_coding|CODING|ENST00000295453|exon_2_233274284_233275424 0/1:82:79,0,216 . . . 2 233274509 rs1048995 C G NON_SYNONYMOUS_CODING ALPPL2 MODERATE|MISSENSE|cCg/cGg|P509R|532|ALPPL2|protein_coding|CODING|ENST00000295453|exon_2_233274284_233275424 0/1:95:92,0,189 . . . 2 234637991 rs200579886 C A NON_SYNONYMOUS_CODING UGT1A3 MODERATE|MISSENSE|aaC/aaA|N73K|534|UGT1A3|protein_coding|CODING|ENST00000482026|exon_2_234637754_234638639 . 0/1:99:247,0,236 . . 2 234713681 rs79208193 G T NON_SYNONYMOUS_CODING HEATR7B1 MODERATE|MISSENSE|gGg/gTg|G659V|1676|HEATR7B1|protein_coding|CODING|ENST00000389758|exon_2_234713650_234713757 . . . 0/1:99:231,0,162 2 234730807 rs6734083 G A NON_SYNONYMOUS_CODING HEATR7B1 MODERATE|MISSENSE|Gtg/Atg|V1184M|1676|HEATR7B1|protein_coding|CODING|ENST00000389758|exon_2_234730770_234730929 0/1:99:228,0,214 0/1:99:235,0,234 . 0/1:94:91,0,195 2 234740157 rs879664 G A NON_SYNONYMOUS_CODING HEATR7B1 MODERATE|MISSENSE|Gtt/Att|V1571I|1676|HEATR7B1|protein_coding|CODING|ENST00000389758|exon_2_234740055_234740186 0/1:99:255,0,158 . . 0/1:99:157,0,255 2 234854540 rs13004520 G C NON_SYNONYMOUS_CODING TRPM8 MODERATE|MISSENSE|aGa/aCa|R247T|1104|TRPM8|protein_coding|CODING|ENST00000324695|exon_2_234854500_234854674 . . . 0/1:99:255,0,255 2 234854552 rs17868387 A G NON_SYNONYMOUS_CODING TRPM8 MODERATE|MISSENSE|tAt/tGt|Y251C|1104|TRPM8|protein_coding|CODING|ENST00000324695|exon_2_234854500_234854674 . . . 0/1:99:255,0,253 2 234959642 rs34347825 C T NON_SYNONYMOUS_CODING SPP2 MODERATE|MISSENSE|tCc/tTc|S38F|211|SPP2|protein_coding|CODING|ENST00000168148|exon_2_234959615_234959739 . . 0/1:99:236,0,167 . 2 234959642 rs34347825 C T NON_SYNONYMOUS_CODING SPP2 MODERATE|MISSENSE|tCc/tTc|S38F|211|SPP2|protein_coding|CODING|ENST00000373368|exon_2_234959615_234959739 . . 0/1:99:236,0,167 . 2 238004469 . A G NON_SYNONYMOUS_CODING COPS8 MODERATE|MISSENSE|atA/atG|I112M|173|COPS8|protein_coding|CODING|ENST00000409334|exon_2_238004465_238004527 . . . 0/1:99:255,0,254 2 238004469 . A G NON_SYNONYMOUS_CODING COPS8 MODERATE|MISSENSE|atA/atG|I148M|209|COPS8|protein_coding|CODING|ENST00000354371|exon_2_238004465_238004527 . . . 0/1:99:255,0,254 2 238004469 . A G NON_SYNONYMOUS_CODING COPS8 MODERATE|MISSENSE|atA/atG|I99M|160|COPS8|protein_coding|CODING|ENST00000392008|exon_2_238004465_238004527 . . . 0/1:99:255,0,254 2 238449108 rs61737681 G T NON_SYNONYMOUS_CODING MLPH MODERATE|MISSENSE|Gcc/Tcc|A168S|360|MLPH|protein_coding|CODING|ENST00000437893|exon_2_238448991_238449176 . 0/1:99:218,0,255 . . 2 238449108 rs61737681 G T NON_SYNONYMOUS_CODING MLPH MODERATE|MISSENSE|Gcc/Tcc|A265S|457|MLPH|protein_coding|CODING|ENST00000410032|exon_2_238448991_238449176 . 0/1:99:218,0,255 . . 2 238449108 rs61737681 G T NON_SYNONYMOUS_CODING MLPH MODERATE|MISSENSE|Gcc/Tcc|A340S|480|MLPH|protein_coding|CODING|ENST00000409373|exon_2_238448991_238449176 . 0/1:99:218,0,255 . . 2 238449108 rs61737681 G T NON_SYNONYMOUS_CODING MLPH MODERATE|MISSENSE|Gcc/Tcc|A380S|572|MLPH|protein_coding|CODING|ENST00000338530|exon_2_238448991_238449176 . 0/1:99:218,0,255 . . 2 238449108 rs61737681 G T NON_SYNONYMOUS_CODING MLPH MODERATE|MISSENSE|Gcc/Tcc|A408S|551|MLPH|protein_coding|CODING|ENST00000445024|exon_2_238448991_238449176 . 0/1:99:218,0,255 . . 2 238449108 rs61737681 G T NON_SYNONYMOUS_CODING MLPH MODERATE|MISSENSE|Gcc/Tcc|A408S|600|MLPH|protein_coding|CODING|ENST00000264605|exon_2_238448991_238449176 . 0/1:99:218,0,255 . . 2 238494742 rs3751112 A G NON_SYNONYMOUS_CODING RAB17 MODERATE|MISSENSE|gTg/gCg|V19A|129|RAB17|protein_coding|CODING|ENST00000411462|exon_2_238494707_238494800 . 0/1:99:241,0,239 . 0/1:99:169,0,155 2 238494742 rs3751112 A G NON_SYNONYMOUS_CODING RAB17 MODERATE|MISSENSE|gTg/gCg|V19A|212|RAB17|protein_coding|CODING|ENST00000264601|exon_2_238494641_238494800 . 0/1:99:241,0,239 . 0/1:99:169,0,155 2 238732999 rs141382362 G A NON_SYNONYMOUS_CODING RBM44 MODERATE|MISSENSE|Gac/Aac|D797N|1052|RBM44|protein_coding|CODING|ENST00000316997|exon_2_238732934_238733062 0/1:99:255,0,255 . . . 2 238732999 rs141382362 G A NON_SYNONYMOUS_CODING RBM44 MODERATE|MISSENSE|Gac/Aac|D797N|1052|RBM44|protein_coding|CODING|ENST00000409864|exon_2_238732934_238733062 0/1:99:255,0,255 . . . 2 239056505 rs74571983 G A NON_SYNONYMOUS_CODING KLHL30 MODERATE|MISSENSE|aGc/aAc|S376N|560|KLHL30|protein_coding|CODING|ENST00000305959|exon_2_239056475_239056663 0/1:77:74,0,219 . . . 2 239056505 rs74571983 G A NON_SYNONYMOUS_CODING KLHL30 MODERATE|MISSENSE|aGc/aAc|S394N|578|KLHL30|protein_coding|CODING|ENST00000409223|exon_2_239056475_239056663 0/1:77:74,0,219 . . . 2 239072806 rs111241405 G T NON_SYNONYMOUS_CODING FAM132B MODERATE|MISSENSE|Gcc/Tcc|A260S|354|FAM132B|protein_coding|CODING|ENST00000546354|exon_2_239072716_239072824 0/1:90:87,0,130 . . . 2 239098594 rs34371548 T C NON_SYNONYMOUS_CODING ILKAP MODERATE|MISSENSE|atA/atG|I66M|211|ILKAP|protein_coding|CODING|ENST00000457149|exon_2_239098500_239098613 . . . 0/1:99:235,0,255 2 239098594 rs34371548 T C NON_SYNONYMOUS_CODING ILKAP MODERATE|MISSENSE|atA/atG|I66M|392|ILKAP|protein_coding|CODING|ENST00000254654|exon_2_239098494_239098613 . . . 0/1:99:235,0,255 2 239161957 rs35333999 C T NON_SYNONYMOUS_CODING PER2 MODERATE|MISSENSE|Gtc/Atc|V903I|1255|PER2|protein_coding|CODING|ENST00000254657|exon_2_239161553_239162343 . 0/1:99:192,0,192 . . 2 240981492 . C G NON_SYNONYMOUS_CODING PRR21 MODERATE|MISSENSE|cGt/cCt|R303P|388|PRR21|protein_coding|CODING|ENST00000486799|exon_2_240981233_240982399 . 0/1:79:77,0,84 . . 2 240981492 . C G NON_SYNONYMOUS_CODING PRR21 MODERATE|MISSENSE|cGt/cCt|R303P|389|PRR21|protein_coding|CODING|ENST00000408934|exon_2_240981230_240982399 . 0/1:79:77,0,84 . . 2 240981795 . A G NON_SYNONYMOUS_CODING PRR21 MODERATE|MISSENSE|aTg/aCg|M202T|388|PRR21|protein_coding|CODING|ENST00000486799|exon_2_240981233_240982399 1/1:10:53,6,0 . . . 2 240981795 . A G NON_SYNONYMOUS_CODING PRR21 MODERATE|MISSENSE|aTg/aCg|M202T|389|PRR21|protein_coding|CODING|ENST00000408934|exon_2_240981230_240982399 1/1:10:53,6,0 . . . 2 240982047 rs148163158 A G NON_SYNONYMOUS_CODING PRR21 MODERATE|MISSENSE|aTg/aCg|M118T|388|PRR21|protein_coding|CODING|ENST00000486799|exon_2_240981233_240982399 0/1:4:58,0,1 . . . 2 240982047 rs148163158 A G NON_SYNONYMOUS_CODING PRR21 MODERATE|MISSENSE|aTg/aCg|M118T|389|PRR21|protein_coding|CODING|ENST00000408934|exon_2_240981230_240982399 0/1:4:58,0,1 . . . 2 240982131 rs79839275 A G NON_SYNONYMOUS_CODING PRR21 MODERATE|MISSENSE|aTg/aCg|M90T|388|PRR21|protein_coding|CODING|ENST00000486799|exon_2_240981233_240982399 . . . 0/1:99:149,0,228 2 240982131 rs79839275 A G NON_SYNONYMOUS_CODING PRR21 MODERATE|MISSENSE|aTg/aCg|M90T|389|PRR21|protein_coding|CODING|ENST00000408934|exon_2_240981230_240982399 . . . 0/1:99:149,0,228 2 240982213 rs113855430 C G NON_SYNONYMOUS_CODING PRR21 MODERATE|MISSENSE|Gct/Cct|A63P|388|PRR21|protein_coding|CODING|ENST00000486799|exon_2_240981233_240982399 . . 0/1:11:60,0,8 . 2 240982213 rs113855430 C G NON_SYNONYMOUS_CODING PRR21 MODERATE|MISSENSE|Gct/Cct|A63P|389|PRR21|protein_coding|CODING|ENST00000408934|exon_2_240981230_240982399 . . 0/1:11:60,0,8 . 2 241451351 rs35044862 G A NON_SYNONYMOUS_CODING ANKMY1 MODERATE|MISSENSE|aCg/aTg|T410M|702|ANKMY1|protein_coding|CODING|ENST00000406958|exon_2_241451278_241451418 0/1:99:168,0,202 . . . 2 241451351 rs35044862 G A NON_SYNONYMOUS_CODING ANKMY1 MODERATE|MISSENSE|aCg/aTg|T419M|711|ANKMY1|protein_coding|CODING|ENST00000373320|exon_2_241451278_241451418 0/1:99:168,0,202 . . . 2 241451351 rs35044862 G A NON_SYNONYMOUS_CODING ANKMY1 MODERATE|MISSENSE|aCg/aTg|T508M|720|ANKMY1|protein_coding|CODING|ENST00000373318|exon_2_241451278_241451418 0/1:99:168,0,202 . . . 2 241451351 rs35044862 G A NON_SYNONYMOUS_CODING ANKMY1 MODERATE|MISSENSE|aCg/aTg|T587M|843|ANKMY1|protein_coding|CODING|ENST00000403283|exon_2_241451278_241451418 0/1:99:168,0,202 . . . 2 241451351 rs35044862 G A NON_SYNONYMOUS_CODING ANKMY1 MODERATE|MISSENSE|aCg/aTg|T649M|941|ANKMY1|protein_coding|CODING|ENST00000272972|exon_2_241451278_241451418 0/1:99:168,0,202 . . . 2 241451351 rs35044862 G A NON_SYNONYMOUS_CODING ANKMY1 MODERATE|MISSENSE|aCg/aTg|T649M|941|ANKMY1|protein_coding|CODING|ENST00000391987|exon_2_241451278_241451418 0/1:99:168,0,202 . . . 2 241451351 rs35044862 G A NON_SYNONYMOUS_CODING ANKMY1 MODERATE|MISSENSE|aCg/aTg|T738M|1030|ANKMY1|protein_coding|CODING|ENST00000401804|exon_2_241451278_241451418 0/1:99:168,0,202 . . . 2 241463453 rs3821348 C A NON_SYNONYMOUS_CODING ANKMY1 MODERATE|MISSENSE|Gtg/Ttg|V242L|292|ANKMY1|protein_coding|CODING|ENST00000405002|exon_2_241461355_241463798 . . 0/1:99:201,0,255 . 2 241463453 rs3821348 C A NON_SYNONYMOUS_CODING ANKMY1 MODERATE|MISSENSE|Gtg/Ttg|V242L|711|ANKMY1|protein_coding|CODING|ENST00000373320|exon_2_241463302_241463798 . . 0/1:99:201,0,255 . 2 241463453 rs3821348 C A NON_SYNONYMOUS_CODING ANKMY1 MODERATE|MISSENSE|Gtg/Ttg|V284L|339|ANKMY1|protein_coding|CODING|ENST00000536462|exon_2_241463302_241463798 . . 0/1:99:201,0,255 . 2 241463453 rs3821348 C A NON_SYNONYMOUS_CODING ANKMY1 MODERATE|MISSENSE|Gtg/Ttg|V331L|439|ANKMY1|protein_coding|CODING|ENST00000405523|exon_2_241463302_241463798 . . 0/1:99:201,0,255 . 2 241463453 rs3821348 C A NON_SYNONYMOUS_CODING ANKMY1 MODERATE|MISSENSE|Gtg/Ttg|V331L|717|ANKMY1|protein_coding|CODING|ENST00000361678|exon_2_241463302_241463798 . . 0/1:99:201,0,255 . 2 241463453 rs3821348 C A NON_SYNONYMOUS_CODING ANKMY1 MODERATE|MISSENSE|Gtg/Ttg|V331L|720|ANKMY1|protein_coding|CODING|ENST00000373318|exon_2_241463302_241463798 . . 0/1:99:201,0,255 . 2 241463453 rs3821348 C A NON_SYNONYMOUS_CODING ANKMY1 MODERATE|MISSENSE|Gtg/Ttg|V410L|843|ANKMY1|protein_coding|CODING|ENST00000403283|exon_2_241463302_241463798 . . 0/1:99:201,0,255 . 2 241463453 rs3821348 C A NON_SYNONYMOUS_CODING ANKMY1 MODERATE|MISSENSE|Gtg/Ttg|V472L|941|ANKMY1|protein_coding|CODING|ENST00000272972|exon_2_241463302_241463798 . . 0/1:99:201,0,255 . 2 241463453 rs3821348 C A NON_SYNONYMOUS_CODING ANKMY1 MODERATE|MISSENSE|Gtg/Ttg|V472L|941|ANKMY1|protein_coding|CODING|ENST00000391987|exon_2_241463302_241463798 . . 0/1:99:201,0,255 . 2 241463453 rs3821348 C A NON_SYNONYMOUS_CODING ANKMY1 MODERATE|MISSENSE|Gtg/Ttg|V561L|1030|ANKMY1|protein_coding|CODING|ENST00000401804|exon_2_241463302_241463798 . . 0/1:99:201,0,255 . 2 241536126 rs7607759 A G NON_SYNONYMOUS_CODING CAPN10 MODERATE|MISSENSE|Acc/Gcc|T504A|653|CAPN10|protein_coding|CODING|ENST00000404753|exon_2_241536098_241536359 0/1:99:182,0,176 . 0/1:99:189,0,161 . 2 241536126 rs7607759 A G NON_SYNONYMOUS_CODING CAPN10 MODERATE|MISSENSE|Acc/Gcc|T504A|672|CAPN10|protein_coding|CODING|ENST00000391984|exon_2_241536098_241536359 0/1:99:182,0,176 . 0/1:99:189,0,161 . 2 241569874 rs61734452 A G NON_SYNONYMOUS_CODING GPR35 MODERATE|MISSENSE|Aat/Gat|N169D|309|GPR35|protein_coding|CODING|ENST00000319838|exon_2_241569366_241570676 . . 0/1:99:180,0,213 . 2 241569874 rs61734452 A G NON_SYNONYMOUS_CODING GPR35 MODERATE|MISSENSE|Aat/Gat|N169D|309|GPR35|protein_coding|CODING|ENST00000403859|exon_2_241569366_241570587 . . 0/1:99:180,0,213 . 2 241569874 rs61734452 A G NON_SYNONYMOUS_CODING GPR35 MODERATE|MISSENSE|Aat/Gat|N169D|309|GPR35|protein_coding|CODING|ENST00000407714|exon_2_241569366_241570299 . . 0/1:99:180,0,213 . 2 241569874 rs61734452 A G NON_SYNONYMOUS_CODING GPR35 MODERATE|MISSENSE|Aat/Gat|N169D|309|GPR35|protein_coding|CODING|ENST00000430267|exon_2_241568795_241570669 . . 0/1:99:180,0,213 . 2 241569874 rs61734452 A G NON_SYNONYMOUS_CODING GPR35 MODERATE|MISSENSE|Aat/Gat|N200D|340|GPR35|protein_coding|CODING|ENST00000438013|exon_2_241569366_241570587 . . 0/1:99:180,0,213 . 2 241570127 rs12468485 C T NON_SYNONYMOUS_CODING GPR35 MODERATE|MISSENSE|aCg/aTg|T253M|309|GPR35|protein_coding|CODING|ENST00000319838|exon_2_241569366_241570676 0/1:99:241,0,124 . . . 2 241570127 rs12468485 C T NON_SYNONYMOUS_CODING GPR35 MODERATE|MISSENSE|aCg/aTg|T253M|309|GPR35|protein_coding|CODING|ENST00000403859|exon_2_241569366_241570587 0/1:99:241,0,124 . . . 2 241570127 rs12468485 C T NON_SYNONYMOUS_CODING GPR35 MODERATE|MISSENSE|aCg/aTg|T253M|309|GPR35|protein_coding|CODING|ENST00000407714|exon_2_241569366_241570299 0/1:99:241,0,124 . . . 2 241570127 rs12468485 C T NON_SYNONYMOUS_CODING GPR35 MODERATE|MISSENSE|aCg/aTg|T253M|309|GPR35|protein_coding|CODING|ENST00000430267|exon_2_241568795_241570669 0/1:99:241,0,124 . . . 2 241570127 rs12468485 C T NON_SYNONYMOUS_CODING GPR35 MODERATE|MISSENSE|aCg/aTg|T284M|340|GPR35|protein_coding|CODING|ENST00000438013|exon_2_241569366_241570587 0/1:99:241,0,124 . . . 2 241622187 rs4081909 C T NON_SYNONYMOUS_CODING AQP12B MODERATE|MISSENSE|cGg/cAg|R23Q|307|AQP12B|protein_coding|CODING|ENST00000407834|exon_2_241621648_241622317 0/1:99:236,0,158 . . . 2 241808347 rs34885252 A G NON_SYNONYMOUS_CODING AGXT MODERATE|MISSENSE|aAc/aGc|N22S|392|AGXT|protein_coding|CODING|ENST00000307503|exon_2_241807896_241808447 0/1:99:214,0,96 . . . 2 241812428 rs117195882 C T NON_SYNONYMOUS_CODING AGXT MODERATE|MISSENSE|gCa/gTa|A186V|392|AGXT|protein_coding|CODING|ENST00000307503|exon_2_241812396_241812466 0/1:99:142,0,174 . . . 2 241812461 rs34664134 G A NON_SYNONYMOUS_CODING AGXT MODERATE|MISSENSE|cGg/cAg|R197Q|392|AGXT|protein_coding|CODING|ENST00000307503|exon_2_241812396_241812466 0/1:99:166,0,176 . . . 2 241871802 rs146400153 G A NON_SYNONYMOUS_CODING AC104809.3.1 MODERATE|MISSENSE|Gct/Act|A206T|1019|AC104809.3.1|protein_coding|CODING|ENST00000430980|exon_2_241871735_241871912 . . 0/1:99:255,0,195 . 2 242054750 rs146720543 A C NON_SYNONYMOUS_CODING PASK MODERATE|MISSENSE|Tta/Gta|L1051V|1143|PASK|protein_coding|CODING|ENST00000403638|exon_2_242054703_242054828 . 0/1:99:255,0,255 . . 2 242054750 rs146720543 A C NON_SYNONYMOUS_CODING PASK MODERATE|MISSENSE|Tta/Gta|L1051V|1323|PASK|protein_coding|CODING|ENST00000234040|exon_2_242054703_242054828 . 0/1:99:255,0,255 . . 2 242054750 rs146720543 A C NON_SYNONYMOUS_CODING PASK MODERATE|MISSENSE|Tta/Gta|L1051V|1323|PASK|protein_coding|CODING|ENST00000405260|exon_2_242054703_242054828 . 0/1:99:255,0,255 . . 2 242054750 rs146720543 A C NON_SYNONYMOUS_CODING PASK MODERATE|MISSENSE|Tta/Gta|L1051V|1330|PASK|protein_coding|CODING|ENST00000358649|exon_2_242054703_242054828 . 0/1:99:255,0,255 . . 2 242054750 rs146720543 A C NON_SYNONYMOUS_CODING PASK MODERATE|MISSENSE|Tta/Gta|L835V|1107|PASK|protein_coding|CODING|ENST00000539818|exon_2_242054703_242054828 . 0/1:99:255,0,255 . . 2 242054750 rs146720543 A C NON_SYNONYMOUS_CODING PASK MODERATE|MISSENSE|Tta/Gta|L865V|1137|PASK|protein_coding|CODING|ENST00000544142|exon_2_242054703_242054828 . 0/1:99:255,0,255 . . 2 242077496 rs1470414 C T NON_SYNONYMOUS_CODING PASK MODERATE|MISSENSE|Gtc/Atc|V250I|1143|PASK|protein_coding|CODING|ENST00000403638|exon_2_242077368_242077502 . . . 0/1:99:216,0,255 2 242077496 rs1470414 C T NON_SYNONYMOUS_CODING PASK MODERATE|MISSENSE|Gtc/Atc|V250I|1323|PASK|protein_coding|CODING|ENST00000234040|exon_2_242077368_242077502 . . . 0/1:99:216,0,255 2 242077496 rs1470414 C T NON_SYNONYMOUS_CODING PASK MODERATE|MISSENSE|Gtc/Atc|V250I|1323|PASK|protein_coding|CODING|ENST00000405260|exon_2_242077368_242077502 . . . 0/1:99:216,0,255 2 242077496 rs1470414 C T NON_SYNONYMOUS_CODING PASK MODERATE|MISSENSE|Gtc/Atc|V250I|1330|PASK|protein_coding|CODING|ENST00000358649|exon_2_242077368_242077502 . . . 0/1:99:216,0,255 2 242077496 rs1470414 C T NON_SYNONYMOUS_CODING PASK MODERATE|MISSENSE|Gtc/Atc|V34I|1107|PASK|protein_coding|CODING|ENST00000539818|exon_2_242077368_242077502 . . . 0/1:99:216,0,255 2 242077496 rs1470414 C T NON_SYNONYMOUS_CODING PASK MODERATE|MISSENSE|Gtc/Atc|V34I|139|PASK|protein_coding|CODING|ENST00000415234|exon_2_242077368_242077502 . . . 0/1:99:216,0,255 2 242077496 rs1470414 C T NON_SYNONYMOUS_CODING PASK MODERATE|MISSENSE|Gtc/Atc|V64I|1137|PASK|protein_coding|CODING|ENST00000544142|exon_2_242077368_242077502 . . . 0/1:99:216,0,255 2 242122182 rs146974542 G A NON_SYNONYMOUS_CODING PPP1R7 MODERATE|MISSENSE|Gtc/Atc|V284I|288|PPP1R7|protein_coding|CODING|ENST00000423280|exon_2_242122062_242122199 . . . 0/1:99:192,0,175 2 242122182 rs146974542 G A NON_SYNONYMOUS_CODING PPP1R7 MODERATE|MISSENSE|Gtc/Atc|V300I|317|PPP1R7|protein_coding|CODING|ENST00000272983|exon_2_242122062_242122400 . . . 0/1:99:192,0,175 2 242122182 rs146974542 G A NON_SYNONYMOUS_CODING PPP1R7 MODERATE|MISSENSE|Gtc/Atc|V343I|360|PPP1R7|protein_coding|CODING|ENST00000234038|exon_2_242122062_242123067 . . . 0/1:99:192,0,175 2 242122182 rs146974542 G A NON_SYNONYMOUS_CODING PPP1R7 MODERATE|MISSENSE|Gtc/Atc|V343I|360|PPP1R7|protein_coding|CODING|ENST00000407025|exon_2_242122062_242122439 . . . 0/1:99:192,0,175 2 242157241 rs76832527 G A NON_SYNONYMOUS_CODING ANO7 MODERATE|MISSENSE|Gcc/Acc|A758T|883|ANO7|protein_coding|CODING|ENST00000402430|exon_2_242157101_242157306 . 0/1:67:64,0,79 . . 2 242157241 rs76832527 G A NON_SYNONYMOUS_CODING ANO7 MODERATE|MISSENSE|Gcc/Acc|A759T|933|ANO7|protein_coding|CODING|ENST00000274979|exon_2_242157101_242157306 . 0/1:67:64,0,79 . . 2 242674803 rs77940364 G A NON_SYNONYMOUS_CODING D2HGDH MODERATE|MISSENSE|cGg/cAg|R55Q|319|D2HGDH|protein_coding|CODING|ENST00000342518|exon_2_242674548_242674931 0/1:99:237,0,227 0/1:99:194,0,255 0/1:99:187,0,234 . 2 242674803 rs77940364 G A NON_SYNONYMOUS_CODING D2HGDH MODERATE|MISSENSE|cGg/cAg|R55Q|325|D2HGDH|protein_coding|CODING|ENST00000537090|exon_2_242674548_242674931 0/1:99:237,0,227 0/1:99:194,0,255 0/1:99:187,0,234 . 2 242674803 rs77940364 G A NON_SYNONYMOUS_CODING D2HGDH MODERATE|MISSENSE|cGg/cAg|R55Q|521|D2HGDH|protein_coding|CODING|ENST00000321264|exon_2_242674548_242674931 0/1:99:237,0,227 0/1:99:194,0,255 0/1:99:187,0,234 . 2 242690745 rs1105273 C T NON_SYNONYMOUS_CODING D2HGDH MODERATE|MISSENSE|gCg/gTg|A227V|387|D2HGDH|protein_coding|CODING|ENST00000403782|exon_2_242690661_242690803 0/1:99:223,0,194 . . . 2 242690745 rs1105273 C T NON_SYNONYMOUS_CODING D2HGDH MODERATE|MISSENSE|gCg/gTg|A361V|521|D2HGDH|protein_coding|CODING|ENST00000321264|exon_2_242690661_242690803 0/1:99:223,0,194 . . . 2 242690745 rs1105273 C T NON_SYNONYMOUS_CODING D2HGDH MODERATE|MISSENSE|gCg/gTg|A62V|77|D2HGDH|protein_coding|CODING|ENST00000454048|exon_2_242690661_242690794 0/1:99:223,0,194 . . . 2 242716387 rs117755329 G A NON_SYNONYMOUS_CODING GAL3ST2 MODERATE|MISSENSE|gGc/gAc|G6D|398|GAL3ST2|protein_coding|CODING|ENST00000192314|exon_2_242716240_242716399 0/1:94:91,0,255 . . . 2 242757574 rs114863971 C T NON_SYNONYMOUS_CODING NEU4 MODERATE|MISSENSE|Cgc/Tgc|R219C|259|NEU4|protein_coding|CODING|ENST00000420288|exon_2_242757377_242757700 . 0/1:99:249,0,171 . . 2 242757574 rs114863971 C T NON_SYNONYMOUS_CODING NEU4 MODERATE|MISSENSE|Cgc/Tgc|R219C|484|NEU4|protein_coding|CODING|ENST00000391969|exon_2_242757377_242758734 . 0/1:99:249,0,171 . . 2 242757574 rs114863971 C T NON_SYNONYMOUS_CODING NEU4 MODERATE|MISSENSE|Cgc/Tgc|R219C|484|NEU4|protein_coding|CODING|ENST00000405370|exon_2_242757377_242758732 . 0/1:99:249,0,171 . . 2 242757574 rs114863971 C T NON_SYNONYMOUS_CODING NEU4 MODERATE|MISSENSE|Cgc/Tgc|R219C|484|NEU4|protein_coding|CODING|ENST00000407683|exon_2_242757377_242758739 . 0/1:99:249,0,171 . . 2 242757574 rs114863971 C T NON_SYNONYMOUS_CODING NEU4 MODERATE|MISSENSE|Cgc/Tgc|R229C|494|NEU4|protein_coding|CODING|ENST00000472793|exon_2_242757377_242758636 . 0/1:99:249,0,171 . . 2 242757574 rs114863971 C T NON_SYNONYMOUS_CODING NEU4 MODERATE|MISSENSE|Cgc/Tgc|R231C|496|NEU4|protein_coding|CODING|ENST00000404257|exon_2_242757377_242758738 . 0/1:99:249,0,171 . . 2 242757574 rs114863971 C T NON_SYNONYMOUS_CODING NEU4 MODERATE|MISSENSE|Cgc/Tgc|R232C|497|NEU4|protein_coding|CODING|ENST00000325935|exon_2_242757377_242758739 . 0/1:99:249,0,171 . . 2 242794416 . C T NON_SYNONYMOUS_CODING PDCD1 MODERATE|MISSENSE|Ggc/Agc|G176S|288|PDCD1|protein_coding|CODING|ENST00000334409|exon_2_242794350_242794505 0/1:99:127,0,135 . . . 2 242815157 rs77317868 C T NON_SYNONYMOUS_CODING CXXC11 MODERATE|MISSENSE|Cgc/Tgc|R484C|572|CXXC11|protein_coding|CODING|ENST00000343216|exon_2_242813866_242815975 0/1:99:208,0,198 . . . 3 9055479 rs146412860 C T NON_SYNONYMOUS_CODING SRGAP3 MODERATE|MISSENSE|Gtc/Atc|V597I|1075|SRGAP3|protein_coding|CODING|ENST00000360413|exon_3_9055421_9055526 . . 0/1:99:255,0,202 . 3 9055479 rs146412860 C T NON_SYNONYMOUS_CODING SRGAP3 MODERATE|MISSENSE|Gtc/Atc|V621I|1099|SRGAP3|protein_coding|CODING|ENST00000383836|exon_3_9055421_9055526 . . 0/1:99:255,0,202 . 3 9852061 . A ATGC CODON_CHANGE_PLUS_CODON_INSERTION TTLL3 MODERATE||gac/gaTGCc|D124DA|915|TTLL3|protein_coding|CODING|ENST00000426895|exon_3_9851672_9852078 . . . 1/1:99:255,51,0 3 9876919 rs1057278 G A NON_SYNONYMOUS_CODING TTLL3 MODERATE|MISSENSE|Gct/Act|A689T|772|TTLL3|protein_coding|CODING|ENST00000547186|exon_3_9876778_9878037 . 0/1:99:180,0,255 . . 3 9876919 rs1057278 G A NON_SYNONYMOUS_CODING TTLL3 MODERATE|MISSENSE|Gct/Act|A832T|915|TTLL3|protein_coding|CODING|ENST00000426895|exon_3_9876778_9877173 . 0/1:99:180,0,255 . . 3 9918811 rs61742367 G A NON_SYNONYMOUS_CODING CIDEC MODERATE|MISSENSE|aCg/aTg|T49M|133|CIDEC|protein_coding|CODING|ENST00000383817|exon_3_9918750_9918903 . 0/1:99:130,0,255 . . 3 9918811 rs61742367 G A NON_SYNONYMOUS_CODING CIDEC MODERATE|MISSENSE|aCg/aTg|T49M|133|CIDEC|protein_coding|CODING|ENST00000443115|exon_3_9918750_9918903 . 0/1:99:130,0,255 . . 3 9918811 rs61742367 G A NON_SYNONYMOUS_CODING CIDEC MODERATE|MISSENSE|aCg/aTg|T49M|238|CIDEC|protein_coding|CODING|ENST00000336832|exon_3_9918750_9918903 . 0/1:99:130,0,255 . . 3 9918811 rs61742367 G A NON_SYNONYMOUS_CODING CIDEC MODERATE|MISSENSE|aCg/aTg|T49M|248|CIDEC|protein_coding|CODING|ENST00000430427|exon_3_9918750_9918903 . 0/1:99:130,0,255 . . 3 9934753 rs35365817 A G NON_SYNONYMOUS_CODING JAGN1 MODERATE|MISSENSE|Att/Gtt|I82V|181|JAGN1|protein_coding|CODING|ENST00000543379|exon_3_9934599_9934839 . 0/1:99:249,0,196 . . 3 9934753 rs35365817 A G NON_SYNONYMOUS_CODING JAGN1 MODERATE|MISSENSE|Att/Gtt|I82V|183|JAGN1|protein_coding|CODING|ENST00000307768|exon_3_9934599_9936033 . 0/1:99:249,0,196 . . 3 9970063 rs145516404 G A NON_SYNONYMOUS_CODING IL17RC MODERATE|MISSENSE|Gca/Aca|A174T|546|IL17RC|protein_coding|CODING|ENST00000416074|exon_3_9969989_9970170 . . 0/1:99:211,0,205 . 3 9970063 rs145516404 G A NON_SYNONYMOUS_CODING IL17RC MODERATE|MISSENSE|Gca/Aca|A278T|329|IL17RC|protein_coding|CODING|ENST00000438091|exon_3_9969989_9970170 . . 0/1:99:211,0,205 . 3 9970063 rs145516404 G A NON_SYNONYMOUS_CODING IL17RC MODERATE|MISSENSE|Gca/Aca|A293T|415|IL17RC|protein_coding|CODING|ENST00000436503|exon_3_9969989_9970170 . . 0/1:99:211,0,205 . 3 9970063 rs145516404 G A NON_SYNONYMOUS_CODING IL17RC MODERATE|MISSENSE|Gca/Aca|A303T|688|IL17RC|protein_coding|CODING|ENST00000455057|exon_3_9969989_9970170 . . 0/1:99:211,0,205 . 3 9970063 rs145516404 G A NON_SYNONYMOUS_CODING IL17RC MODERATE|MISSENSE|Gca/Aca|A303T|705|IL17RC|protein_coding|CODING|ENST00000383812|exon_3_9969989_9970170 . . 0/1:99:211,0,205 . 3 9970063 rs145516404 G A NON_SYNONYMOUS_CODING IL17RC MODERATE|MISSENSE|Gca/Aca|A318T|707|IL17RC|protein_coding|CODING|ENST00000413608|exon_3_9969989_9970170 . . 0/1:99:211,0,205 . 3 9970063 rs145516404 G A NON_SYNONYMOUS_CODING IL17RC MODERATE|MISSENSE|Gca/Aca|A318T|720|IL17RC|protein_coding|CODING|ENST00000403601|exon_3_9969989_9970170 . . 0/1:99:211,0,205 . 3 9970063 rs145516404 G A NON_SYNONYMOUS_CODING IL17RC MODERATE|MISSENSE|Gca/Aca|A389T|791|IL17RC|protein_coding|CODING|ENST00000295981|exon_3_9969989_9970170 . . 0/1:99:211,0,205 . 3 9970081 rs115461448 G A NON_SYNONYMOUS_CODING IL17RC MODERATE|MISSENSE|Gca/Aca|A180T|546|IL17RC|protein_coding|CODING|ENST00000416074|exon_3_9969989_9970170 . . 0/1:99:152,0,250 . 3 9970081 rs115461448 G A NON_SYNONYMOUS_CODING IL17RC MODERATE|MISSENSE|Gca/Aca|A284T|329|IL17RC|protein_coding|CODING|ENST00000438091|exon_3_9969989_9970170 . . 0/1:99:152,0,250 . 3 9970081 rs115461448 G A NON_SYNONYMOUS_CODING IL17RC MODERATE|MISSENSE|Gca/Aca|A299T|415|IL17RC|protein_coding|CODING|ENST00000436503|exon_3_9969989_9970170 . . 0/1:99:152,0,250 . 3 9970081 rs115461448 G A NON_SYNONYMOUS_CODING IL17RC MODERATE|MISSENSE|Gca/Aca|A309T|688|IL17RC|protein_coding|CODING|ENST00000455057|exon_3_9969989_9970170 . . 0/1:99:152,0,250 . 3 9970081 rs115461448 G A NON_SYNONYMOUS_CODING IL17RC MODERATE|MISSENSE|Gca/Aca|A309T|705|IL17RC|protein_coding|CODING|ENST00000383812|exon_3_9969989_9970170 . . 0/1:99:152,0,250 . 3 9970081 rs115461448 G A NON_SYNONYMOUS_CODING IL17RC MODERATE|MISSENSE|Gca/Aca|A324T|707|IL17RC|protein_coding|CODING|ENST00000413608|exon_3_9969989_9970170 . . 0/1:99:152,0,250 . 3 9970081 rs115461448 G A NON_SYNONYMOUS_CODING IL17RC MODERATE|MISSENSE|Gca/Aca|A324T|720|IL17RC|protein_coding|CODING|ENST00000403601|exon_3_9969989_9970170 . . 0/1:99:152,0,250 . 3 9970081 rs115461448 G A NON_SYNONYMOUS_CODING IL17RC MODERATE|MISSENSE|Gca/Aca|A395T|791|IL17RC|protein_coding|CODING|ENST00000295981|exon_3_9969989_9970170 . . 0/1:99:152,0,250 . 3 10219567 rs11465864 C A NON_SYNONYMOUS_CODING IRAK2 MODERATE|MISSENSE|tCc/tAc|S47Y|625|IRAK2|protein_coding|CODING|ENST00000256458|exon_3_10219522_10219704 . . . 0/1:69:66,0,197 3 10290952 rs148376271 G A NON_SYNONYMOUS_CODING TATDN2 MODERATE|MISSENSE|cGc/cAc|R23H|761|TATDN2|protein_coding|CODING|ENST00000287652|exon_3_10290879_10291298 0/1:99:114,0,245 . . . 3 10290952 rs148376271 G A NON_SYNONYMOUS_CODING TATDN2 MODERATE|MISSENSE|cGc/cAc|R23H|761|TATDN2|protein_coding|CODING|ENST00000448281|exon_3_10290879_10291298 0/1:99:114,0,245 . . . 3 11848925 . A C NON_SYNONYMOUS_CODING TAMM41 MODERATE|MISSENSE|gTg/gGg|V440G|452|TAMM41|protein_coding|CODING|ENST00000444133|exon_3_11848768_11849369 . . . 0/1:99:243,0,255 3 11871215 rs11551661 T C NON_SYNONYMOUS_CODING TAMM41 MODERATE|MISSENSE|Ata/Gta|I179V|316|TAMM41|protein_coding|CODING|ENST00000273037|exon_3_11871188_11871338 . 0/1:99:255,0,255 1/1:99:255,93,0 . 3 11871215 rs11551661 T C NON_SYNONYMOUS_CODING TAMM41 MODERATE|MISSENSE|Ata/Gta|I179V|337|TAMM41|protein_coding|CODING|ENST00000455809|exon_3_11871188_11871338 . 0/1:99:255,0,255 1/1:99:255,93,0 . 3 11871215 rs11551661 T C NON_SYNONYMOUS_CODING TAMM41 MODERATE|MISSENSE|Ata/Gta|I179V|452|TAMM41|protein_coding|CODING|ENST00000444133|exon_3_11871188_11871338 . 0/1:99:255,0,255 1/1:99:255,93,0 . 3 11887993 rs144232229 G A NON_SYNONYMOUS_CODING TAMM41 MODERATE|MISSENSE|Ccg/Tcg|P40S|316|TAMM41|protein_coding|CODING|ENST00000273037|exon_3_11887976_11888393 . . . 0/1:99:166,0,230 3 11887993 rs144232229 G A NON_SYNONYMOUS_CODING TAMM41 MODERATE|MISSENSE|Ccg/Tcg|P40S|337|TAMM41|protein_coding|CODING|ENST00000455809|exon_3_11887976_11888246 . . . 0/1:99:166,0,230 3 11887993 rs144232229 G A NON_SYNONYMOUS_CODING TAMM41 MODERATE|MISSENSE|Ccg/Tcg|P40S|452|TAMM41|protein_coding|CODING|ENST00000444133|exon_3_11887976_11888253 . . . 0/1:99:166,0,230 3 12531421 rs12495784 G A NON_SYNONYMOUS_CODING TSEN2 MODERATE|MISSENSE|cGt/cAt|R41H|377|TSEN2|protein_coding|CODING|ENST00000446004|exon_3_12531283_12531488 0/1:99:255,0,207 . . . 3 12531421 rs12495784 G A NON_SYNONYMOUS_CODING TSEN2 MODERATE|MISSENSE|cGt/cAt|R41H|402|TSEN2|protein_coding|CODING|ENST00000444864|exon_3_12531283_12531488 0/1:99:255,0,207 . . . 3 12531421 rs12495784 G A NON_SYNONYMOUS_CODING TSEN2 MODERATE|MISSENSE|cGt/cAt|R41H|406|TSEN2|protein_coding|CODING|ENST00000454502|exon_3_12531283_12531488 0/1:99:255,0,207 . . . 3 12531421 rs12495784 G A NON_SYNONYMOUS_CODING TSEN2 MODERATE|MISSENSE|cGt/cAt|R41H|438|TSEN2|protein_coding|CODING|ENST00000537959|exon_3_12531283_12531488 0/1:99:255,0,207 . . . 3 12531421 rs12495784 G A NON_SYNONYMOUS_CODING TSEN2 MODERATE|MISSENSE|cGt/cAt|R41H|439|TSEN2|protein_coding|CODING|ENST00000314571|exon_3_12531283_12531488 0/1:99:255,0,207 . . . 3 12531421 rs12495784 G A NON_SYNONYMOUS_CODING TSEN2 MODERATE|MISSENSE|cGt/cAt|R41H|439|TSEN2|protein_coding|CODING|ENST00000415684|exon_3_12531279_12531488 0/1:99:255,0,207 . . . 3 12531421 rs12495784 G A NON_SYNONYMOUS_CODING TSEN2 MODERATE|MISSENSE|cGt/cAt|R41H|448|TSEN2|protein_coding|CODING|ENST00000383797|exon_3_12531283_12531488 0/1:99:255,0,207 . . . 3 12531421 rs12495784 G A NON_SYNONYMOUS_CODING TSEN2 MODERATE|MISSENSE|cGt/cAt|R41H|465|TSEN2|protein_coding|CODING|ENST00000284995|exon_3_12531283_12531488 0/1:99:255,0,207 . . . 3 12531421 rs12495784 G A NON_SYNONYMOUS_CODING TSEN2 MODERATE|MISSENSE|cGt/cAt|R41H|465|TSEN2|protein_coding|CODING|ENST00000402228|exon_3_12531283_12531488 0/1:99:255,0,207 . . . 3 12544829 rs33955793 G A NON_SYNONYMOUS_CODING TSEN2 MODERATE|MISSENSE|cGc/cAc|R126H|377|TSEN2|protein_coding|CODING|ENST00000446004|exon_3_12544761_12545283 . 0/1:99:255,0,249 0/1:99:255,0,193 . 3 12544829 rs33955793 G A NON_SYNONYMOUS_CODING TSEN2 MODERATE|MISSENSE|cGc/cAc|R126H|402|TSEN2|protein_coding|CODING|ENST00000444864|exon_3_12544761_12545283 . 0/1:99:255,0,249 0/1:99:255,0,193 . 3 12544829 rs33955793 G A NON_SYNONYMOUS_CODING TSEN2 MODERATE|MISSENSE|cGc/cAc|R126H|406|TSEN2|protein_coding|CODING|ENST00000454502|exon_3_12544761_12544968 . 0/1:99:255,0,249 0/1:99:255,0,193 . 3 12544829 rs33955793 G A NON_SYNONYMOUS_CODING TSEN2 MODERATE|MISSENSE|cGc/cAc|R126H|439|TSEN2|protein_coding|CODING|ENST00000314571|exon_3_12544761_12545283 . 0/1:99:255,0,249 0/1:99:255,0,193 . 3 12544829 rs33955793 G A NON_SYNONYMOUS_CODING TSEN2 MODERATE|MISSENSE|cGc/cAc|R126H|439|TSEN2|protein_coding|CODING|ENST00000415684|exon_3_12544761_12545283 . 0/1:99:255,0,249 0/1:99:255,0,193 . 3 12544829 rs33955793 G A NON_SYNONYMOUS_CODING TSEN2 MODERATE|MISSENSE|cGc/cAc|R126H|448|TSEN2|protein_coding|CODING|ENST00000383797|exon_3_12544761_12545283 . 0/1:99:255,0,249 0/1:99:255,0,193 . 3 12544829 rs33955793 G A NON_SYNONYMOUS_CODING TSEN2 MODERATE|MISSENSE|cGc/cAc|R126H|465|TSEN2|protein_coding|CODING|ENST00000284995|exon_3_12544761_12545283 . 0/1:99:255,0,249 0/1:99:255,0,193 . 3 12544829 rs33955793 G A NON_SYNONYMOUS_CODING TSEN2 MODERATE|MISSENSE|cGc/cAc|R126H|465|TSEN2|protein_coding|CODING|ENST00000402228|exon_3_12544761_12545283 . 0/1:99:255,0,249 0/1:99:255,0,193 . 3 12544829 rs33955793 G A NON_SYNONYMOUS_CODING TSEN2 MODERATE|MISSENSE|cGc/cAc|R99H|438|TSEN2|protein_coding|CODING|ENST00000537959|exon_3_12544761_12545283 . 0/1:99:255,0,249 0/1:99:255,0,193 . 3 12584699 rs12496109 A G NON_SYNONYMOUS_CODING MKRN2-AS1 MODERATE|MISSENSE|gTt/gCt|V83A|223|MKRN2-AS1|protein_coding|CODING|ENST00000564146|exon_3_12584679_12584728 0/1:99:255,0,255 . . . 3 12845013 rs62620196 C T NON_SYNONYMOUS_CODING CAND2 MODERATE|MISSENSE|tCg/tTg|S32L|1119|CAND2|protein_coding|CODING|ENST00000295989|exon_3_12844987_12845130 . 0/1:99:143,0,233 . . 3 12845013 rs62620196 C T NON_SYNONYMOUS_CODING CAND2 MODERATE|MISSENSE|tCg/tTg|S32L|1236|CAND2|protein_coding|CODING|ENST00000456430|exon_3_12844987_12845130 . 0/1:99:143,0,233 . . 3 13612286 rs28587534 A G NON_SYNONYMOUS_CODING FBLN2 MODERATE|MISSENSE|cAc/cGc|H144R|1184|FBLN2|protein_coding|CODING|ENST00000295760|exon_3_13611815_13613161 . . 0/1:99:123,0,211 . 3 13612286 rs28587534 A G NON_SYNONYMOUS_CODING FBLN2 MODERATE|MISSENSE|cAc/cGc|H144R|1231|FBLN2|protein_coding|CODING|ENST00000404922|exon_3_13611815_13613161 . . 0/1:99:123,0,211 . 3 13612286 rs28587534 A G NON_SYNONYMOUS_CODING FBLN2 MODERATE|MISSENSE|cAc/cGc|H144R|1231|FBLN2|protein_coding|CODING|ENST00000492059|exon_3_13611815_13613161 . . 0/1:99:123,0,211 . 3 13612286 rs28587534 A G NON_SYNONYMOUS_CODING FBLN2 MODERATE|MISSENSE|cAc/cGc|H144R|157|FBLN2|protein_coding|CODING|ENST00000465610|exon_3_13611815_13612331 . . 0/1:99:123,0,211 . 3 13612286 rs28587534 A G NON_SYNONYMOUS_CODING FBLN2 MODERATE|MISSENSE|cAc/cGc|H170R|1210|FBLN2|protein_coding|CODING|ENST00000535798|exon_3_13611815_13613161 . . 0/1:99:123,0,211 . 3 13613015 rs3796318 A C NON_SYNONYMOUS_CODING FBLN2 MODERATE|MISSENSE|aAc/aCc|N387T|1184|FBLN2|protein_coding|CODING|ENST00000295760|exon_3_13611815_13613161 . . 0/1:99:226,0,129 . 3 13613015 rs3796318 A C NON_SYNONYMOUS_CODING FBLN2 MODERATE|MISSENSE|aAc/aCc|N387T|1231|FBLN2|protein_coding|CODING|ENST00000404922|exon_3_13611815_13613161 . . 0/1:99:226,0,129 . 3 13613015 rs3796318 A C NON_SYNONYMOUS_CODING FBLN2 MODERATE|MISSENSE|aAc/aCc|N387T|1231|FBLN2|protein_coding|CODING|ENST00000492059|exon_3_13611815_13613161 . . 0/1:99:226,0,129 . 3 13613015 rs3796318 A C NON_SYNONYMOUS_CODING FBLN2 MODERATE|MISSENSE|aAc/aCc|N413T|1210|FBLN2|protein_coding|CODING|ENST00000535798|exon_3_13611815_13613161 . . 0/1:99:226,0,129 . 3 13660506 rs112155579 A G NON_SYNONYMOUS_CODING FBLN2 MODERATE|MISSENSE|aAt/aGt|N681S|1184|FBLN2|protein_coding|CODING|ENST00000295760|exon_3_13660404_13660517 . . 0/1:99:195,0,187 . 3 13660506 rs112155579 A G NON_SYNONYMOUS_CODING FBLN2 MODERATE|MISSENSE|aAt/aGt|N681S|1231|FBLN2|protein_coding|CODING|ENST00000404922|exon_3_13660404_13660517 . . 0/1:99:195,0,187 . 3 13660506 rs112155579 A G NON_SYNONYMOUS_CODING FBLN2 MODERATE|MISSENSE|aAt/aGt|N681S|1231|FBLN2|protein_coding|CODING|ENST00000492059|exon_3_13660404_13660517 . . 0/1:99:195,0,187 . 3 13660506 rs112155579 A G NON_SYNONYMOUS_CODING FBLN2 MODERATE|MISSENSE|aAt/aGt|N707S|1210|FBLN2|protein_coding|CODING|ENST00000535798|exon_3_13660404_13660517 . . 0/1:99:195,0,187 . 3 14106310 . T C NON_SYNONYMOUS_CODING TPRXL MODERATE|MISSENSE|Tcc/Ccc|S212P|252|TPRXL|protein_coding|CODING|ENST00000326972|exon_3_14105525_14107479 0/1:79:76,0,108 . . 0/1:56:53,0,89 3 14106310 . T C NON_SYNONYMOUS_CODING TPRXL MODERATE|MISSENSE|Tcc/Ccc|S212P|252|TPRXL|protein_coding|CODING|ENST00000424053|exon_3_14105525_14107479 0/1:79:76,0,108 . . 0/1:56:53,0,89 3 14106310 . T C NON_SYNONYMOUS_CODING TPRXL MODERATE|MISSENSE|Tcc/Ccc|S212P|252|TPRXL|protein_coding|CODING|ENST00000429201|exon_3_14105520_14107479 0/1:79:76,0,108 . . 0/1:56:53,0,89 3 14206341 rs184879571 G C NON_SYNONYMOUS_CODING XPC MODERATE|MISSENSE|tCt/tGt|S254C|903|XPC|protein_coding|CODING|ENST00000449060|exon_3_14206313_14206433 . 0/1:99:217,0,255 . . 3 14206341 rs184879571 G C NON_SYNONYMOUS_CODING XPC MODERATE|MISSENSE|tCt/tGt|S291C|940|XPC|protein_coding|CODING|ENST00000285021|exon_3_14206313_14206433 . 0/1:99:217,0,255 . . 3 14220023 rs1870134 G C NON_SYNONYMOUS_CODING XPC MODERATE|MISSENSE|Ctg/Gtg|L16V|167|XPC|protein_coding|CODING|ENST00000511155|exon_3_14219984_14220121 0/1:99:176,0,222 . . . 3 14220023 rs1870134 G C NON_SYNONYMOUS_CODING XPC MODERATE|MISSENSE|Ctg/Gtg|L16V|903|XPC|protein_coding|CODING|ENST00000449060|exon_3_14219966_14220068 0/1:99:176,0,222 . . . 3 14220023 rs1870134 G C NON_SYNONYMOUS_CODING XPC MODERATE|MISSENSE|Ctg/Gtg|L16V|940|XPC|protein_coding|CODING|ENST00000285021|exon_3_14219966_14220283 0/1:99:176,0,222 . . . 3 14523296 rs41284017 G A NON_SYNONYMOUS_CODING SLC6A6 MODERATE|MISSENSE|Gtt/Att|V557I|620|SLC6A6|protein_coding|CODING|ENST00000360861|exon_3_14523179_14523349 . 0/1:99:184,0,199 . . 3 14523296 rs41284017 G A NON_SYNONYMOUS_CODING SLC6A6 MODERATE|MISSENSE|Gtt/Att|V557I|620|SLC6A6|protein_coding|CODING|ENST00000454876|exon_3_14523179_14523349 . 0/1:99:184,0,199 . . 3 14724555 rs148474695 G A NON_SYNONYMOUS_CODING C3orf20 MODERATE|MISSENSE|gGg/gAg|G112E|904|C3orf20|protein_coding|CODING|ENST00000253697|exon_3_14724085_14724704 . . . 0/1:99:236,0,230 3 14862352 . T C NON_SYNONYMOUS_CODING FGD5 MODERATE|MISSENSE|Tct/Cct|S351P|1178|FGD5|protein_coding|CODING|ENST00000543601|exon_3_14860831_14863103 . 0/1:99:219,0,181 . . 3 14862352 . T C NON_SYNONYMOUS_CODING FGD5 MODERATE|MISSENSE|Tct/Cct|S592P|1462|FGD5|protein_coding|CODING|ENST00000285046|exon_3_14860469_14863103 . 0/1:99:219,0,181 . . 3 15259992 rs35247476 G A NON_SYNONYMOUS_CODING CAPN7 MODERATE|MISSENSE|Gct/Act|A128T|813|CAPN7|protein_coding|CODING|ENST00000253693|exon_3_15259980_15260047 . . 0/1:99:255,0,255 . 3 15614707 rs41284033 C T NON_SYNONYMOUS_CODING HACL1 MODERATE|MISSENSE|Gct/Act|A236T|496|HACL1|protein_coding|CODING|ENST00000451445|exon_3_15614666_15614749 . . . 0/1:99:255,0,255 3 15614707 rs41284033 C T NON_SYNONYMOUS_CODING HACL1 MODERATE|MISSENSE|Gct/Act|A291T|551|HACL1|protein_coding|CODING|ENST00000456194|exon_3_15614666_15614749 . . . 0/1:99:255,0,255 3 15614707 rs41284033 C T NON_SYNONYMOUS_CODING HACL1 MODERATE|MISSENSE|Gct/Act|A292T|518|HACL1|protein_coding|CODING|ENST00000457447|exon_3_15614666_15614749 . . . 0/1:99:255,0,255 3 15614707 rs41284033 C T NON_SYNONYMOUS_CODING HACL1 MODERATE|MISSENSE|Gct/Act|A318T|578|HACL1|protein_coding|CODING|ENST00000321169|exon_3_15614666_15614749 . . . 0/1:99:255,0,255 3 15614707 rs41284033 C T NON_SYNONYMOUS_CODING HACL1 MODERATE|MISSENSE|Gct/Act|A77T|337|HACL1|protein_coding|CODING|ENST00000435217|exon_3_15614666_15614749 . . . 0/1:99:255,0,255 3 16261420 rs2271077 C T NON_SYNONYMOUS_CODING GALNTL2 MODERATE|MISSENSE|Cac/Tac|H40Y|196|GALNTL2|protein_coding|CODING|ENST00000543679|exon_3_16261417_16261521 . . . 0/1:99:255,0,233 3 16261420 rs2271077 C T NON_SYNONYMOUS_CODING GALNTL2 MODERATE|MISSENSE|Cac/Tac|H510Y|617|GALNTL2|protein_coding|CODING|ENST00000437509|exon_3_16261417_16261521 . . . 0/1:99:255,0,233 3 16261420 rs2271077 C T NON_SYNONYMOUS_CODING GALNTL2 MODERATE|MISSENSE|Cac/Tac|H510Y|639|GALNTL2|protein_coding|CODING|ENST00000339732|exon_3_16261417_16261521 . . . 0/1:99:255,0,233 3 16419309 rs34276015 C T NON_SYNONYMOUS_CODING RFTN1 MODERATE|MISSENSE|Gaa/Aaa|E212K|542|RFTN1|protein_coding|CODING|ENST00000432519|exon_3_16419225_16419609 0/1:99:167,0,244 . . . 3 16419309 rs34276015 C T NON_SYNONYMOUS_CODING RFTN1 MODERATE|MISSENSE|Gaa/Aaa|E248K|274|RFTN1|protein_coding|CODING|ENST00000451036|exon_3_16419226_16419609 0/1:99:167,0,244 . . . 3 16419309 rs34276015 C T NON_SYNONYMOUS_CODING RFTN1 MODERATE|MISSENSE|Gaa/Aaa|E248K|578|RFTN1|protein_coding|CODING|ENST00000334133|exon_3_16419225_16419609 0/1:99:167,0,244 . . . 3 16926567 . T C NON_SYNONYMOUS_CODING PLCL2 MODERATE|MISSENSE|gTc/gCc|V11A|1128|PLCL2|protein_coding|CODING|ENST00000285094|exon_3_16926542_16926865 . 1/1:21:64,12,0 . 1/1:21:66,12,0 3 17349498 rs79960281 T C NON_SYNONYMOUS_CODING TBC1D5 MODERATE|MISSENSE|tAc/tGc|Y327C|593|TBC1D5|protein_coding|CODING|ENST00000429924|exon_3_17349484_17349626 . . . 0/1:99:255,0,255 3 17349498 rs79960281 T C NON_SYNONYMOUS_CODING TBC1D5 MODERATE|MISSENSE|tAc/tGc|Y375C|795|TBC1D5|protein_coding|CODING|ENST00000253692|exon_3_17349484_17349626 . . . 0/1:99:255,0,255 3 17349498 rs79960281 T C NON_SYNONYMOUS_CODING TBC1D5 MODERATE|MISSENSE|tAc/tGc|Y375C|795|TBC1D5|protein_coding|CODING|ENST00000429383|exon_3_17349484_17349626 . . . 0/1:99:255,0,255 3 17349498 rs79960281 T C NON_SYNONYMOUS_CODING TBC1D5 MODERATE|MISSENSE|tAc/tGc|Y375C|817|TBC1D5|protein_coding|CODING|ENST00000446818|exon_3_17349484_17349626 . . . 0/1:99:255,0,255 3 33195309 rs61743461 A G NON_SYNONYMOUS_CODING SUSD5 MODERATE|MISSENSE|tTg/tCg|L272S|629|SUSD5|protein_coding|CODING|ENST00000309558|exon_3_33191537_33195525 . . 0/1:99:255,0,255 0/1:99:255,0,255 3 33883492 rs148256302 G A NON_SYNONYMOUS_CODING PDCD6IP MODERATE|MISSENSE|Ggc/Agc|G429S|868|PDCD6IP|protein_coding|CODING|ENST00000307296|exon_3_33883389_33883566 . 0/1:99:226,0,255 . . 3 33883492 rs148256302 G A NON_SYNONYMOUS_CODING PDCD6IP MODERATE|MISSENSE|Ggc/Agc|G434S|873|PDCD6IP|protein_coding|CODING|ENST00000457054|exon_3_33883389_33883566 . 0/1:99:226,0,255 . . 3 33893987 rs9813017 A G NON_SYNONYMOUS_CODING PDCD6IP MODERATE|MISSENSE|aAt/aGt|N550S|868|PDCD6IP|protein_coding|CODING|ENST00000307296|exon_3_33893980_33894228 . . 0/1:99:255,0,188 . 3 33893987 rs9813017 A G NON_SYNONYMOUS_CODING PDCD6IP MODERATE|MISSENSE|aAt/aGt|N555S|873|PDCD6IP|protein_coding|CODING|ENST00000457054|exon_3_33893980_33894228 . . 0/1:99:255,0,188 . 3 35763323 rs76948084 G A NON_SYNONYMOUS_CODING ARPP21 MODERATE|MISSENSE|Gca/Aca|A354T|793|ARPP21|protein_coding|CODING|ENST00000337271|exon_3_35763097_35763326 0/1:57:255,0,54 . . . 3 35763323 rs76948084 G A NON_SYNONYMOUS_CODING ARPP21 MODERATE|MISSENSE|Gca/Aca|A354T|793|ARPP21|protein_coding|CODING|ENST00000444190|exon_3_35763097_35763326 0/1:57:255,0,54 . . . 3 35763323 rs76948084 G A NON_SYNONYMOUS_CODING ARPP21 MODERATE|MISSENSE|Gca/Aca|A374T|813|ARPP21|protein_coding|CODING|ENST00000417925|exon_3_35763097_35763326 0/1:57:255,0,54 . . . 3 35763323 rs76948084 G A NON_SYNONYMOUS_CODING ARPP21 MODERATE|MISSENSE|Gca/Aca|A374T|813|ARPP21|protein_coding|CODING|ENST00000458225|exon_3_35763097_35763326 0/1:57:255,0,54 . . . 3 35763323 rs76948084 G A NON_SYNONYMOUS_CODING ARPP21 MODERATE|MISSENSE|Gca/Aca|A408T|812|ARPP21|protein_coding|CODING|ENST00000187397|exon_3_35763097_35763326 0/1:57:255,0,54 . . . 3 36898991 rs61732326 T C NON_SYNONYMOUS_CODING TRANK1 MODERATE|MISSENSE|cAg/cGg|Q147R|2375|TRANK1|protein_coding|CODING|ENST00000301807|exon_3_36896664_36899540 . . . 0/1:99:230,0,255 3 36898991 rs61732326 T C NON_SYNONYMOUS_CODING TRANK1 MODERATE|MISSENSE|cAg/cGg|Q147R|2375|TRANK1|protein_coding|CODING|ENST00000428977|exon_3_36896664_36899540 . . . 0/1:99:230,0,255 3 36898991 rs61732326 T C NON_SYNONYMOUS_CODING TRANK1 MODERATE|MISSENSE|cAg/cGg|Q697R|2925|TRANK1|protein_coding|CODING|ENST00000429976|exon_3_36896664_36899540 . . . 0/1:99:230,0,255 3 37151037 . A G NON_SYNONYMOUS_CODING LRRFIP2 MODERATE|MISSENSE|cTg/cCg|L197P|721|LRRFIP2|protein_coding|CODING|ENST00000336686|exon_3_37151018_37151062 0/1:99:255,0,255 . . . 3 37151037 . A G NON_SYNONYMOUS_CODING LRRFIP2 MODERATE|MISSENSE|cTg/cCg|L197P|721|LRRFIP2|protein_coding|CODING|ENST00000421307|exon_3_37151018_37151062 0/1:99:255,0,255 . . . 3 38087077 . T C NON_SYNONYMOUS_CODING DLEC1 MODERATE|MISSENSE|tTg/tCg|L152S|1755|DLEC1|protein_coding|CODING|ENST00000308059|exon_3_38087034_38087184 . 0/1:99:232,0,183 . . 3 38087077 . T C NON_SYNONYMOUS_CODING DLEC1 MODERATE|MISSENSE|tTg/tCg|L152S|1758|DLEC1|protein_coding|CODING|ENST00000452631|exon_3_38087034_38087184 . 0/1:99:232,0,183 . . 3 38087077 . T C NON_SYNONYMOUS_CODING DLEC1 MODERATE|MISSENSE|tTg/tCg|L152S|1778|DLEC1|protein_coding|CODING|ENST00000346219|exon_3_38087034_38087184 . 0/1:99:232,0,183 . . 3 38125685 rs199770928 C T NON_SYNONYMOUS_CODING DLEC1 MODERATE|MISSENSE|Cgc/Tgc|R404C|1755|DLEC1|protein_coding|CODING|ENST00000308059|exon_3_38125649_38125736 . . 0/1:99:255,0,255 . 3 38125685 rs199770928 C T NON_SYNONYMOUS_CODING DLEC1 MODERATE|MISSENSE|Cgc/Tgc|R404C|1758|DLEC1|protein_coding|CODING|ENST00000452631|exon_3_38125649_38125736 . . 0/1:99:255,0,255 . 3 38125685 rs199770928 C T NON_SYNONYMOUS_CODING DLEC1 MODERATE|MISSENSE|Cgc/Tgc|R404C|1778|DLEC1|protein_coding|CODING|ENST00000346219|exon_3_38125649_38125736 . . 0/1:99:255,0,255 . 3 38805069 rs74717885 T C NON_SYNONYMOUS_CODING SCN10A MODERATE|MISSENSE|atA/atG|I206M|1956|SCN10A|protein_coding|CODING|ENST00000449082|exon_3_38804996_38805087 0/1:99:255,0,255 . . . 3 39178437 rs35934336 G T NON_SYNONYMOUS_CODING TTC21A MODERATE|MISSENSE|cGc/cTc|R1007L|1272|TTC21A|protein_coding|CODING|ENST00000440121|exon_3_39178390_39178551 . . 0/1:99:255,0,203 . 3 39178437 rs35934336 G T NON_SYNONYMOUS_CODING TTC21A MODERATE|MISSENSE|cGc/cTc|R1038L|1303|TTC21A|protein_coding|CODING|ENST00000424305|exon_3_39178390_39178551 . . 0/1:99:255,0,203 . 3 39178437 rs35934336 G T NON_SYNONYMOUS_CODING TTC21A MODERATE|MISSENSE|cGc/cTc|R1055L|1320|TTC21A|protein_coding|CODING|ENST00000431162|exon_3_39178390_39178551 . . 0/1:99:255,0,203 . 3 39178437 rs35934336 G T NON_SYNONYMOUS_CODING TTC21A MODERATE|MISSENSE|cGc/cTc|R1056L|1321|TTC21A|protein_coding|CODING|ENST00000301819|exon_3_39178390_39178551 . . 0/1:99:255,0,203 . 3 39188182 rs13084580 C T NON_SYNONYMOUS_CODING CSRNP1 MODERATE|MISSENSE|cGg/cAg|R58Q|247|CSRNP1|protein_coding|CODING|ENST00000318290|exon_3_39188154_39188213 . 0/1:99:243,0,211 . . 3 39307125 rs201179424 G C NON_SYNONYMOUS_CODING CX3CR1 MODERATE|MISSENSE|atC/atG|I292M|355|CX3CR1|protein_coding|CODING|ENST00000399220|exon_3_39304985_39308009 . . 0/1:99:255,0,188 . 3 39307125 rs201179424 G C NON_SYNONYMOUS_CODING CX3CR1 MODERATE|MISSENSE|atC/atG|I292M|355|CX3CR1|protein_coding|CODING|ENST00000541347|exon_3_39304986_39308009 . . 0/1:99:255,0,188 . 3 39307125 rs201179424 G C NON_SYNONYMOUS_CODING CX3CR1 MODERATE|MISSENSE|atC/atG|I292M|355|CX3CR1|protein_coding|CODING|ENST00000542107|exon_3_39304986_39308009 . . 0/1:99:255,0,188 . 3 39307125 rs201179424 G C NON_SYNONYMOUS_CODING CX3CR1 MODERATE|MISSENSE|atC/atG|I300M|363|CX3CR1|protein_coding|CODING|ENST00000538756|exon_3_39304985_39308009 . . 0/1:99:255,0,188 . 3 39307125 rs201179424 G C NON_SYNONYMOUS_CODING CX3CR1 MODERATE|MISSENSE|atC/atG|I324M|387|CX3CR1|protein_coding|CODING|ENST00000358309|exon_3_39304986_39308009 . . 0/1:99:255,0,188 . 3 40223771 rs59923220 G A NON_SYNONYMOUS_CODING MYRIP MODERATE|MISSENSE|Gct/Act|A125T|672|MYRIP|protein_coding|CODING|ENST00000539167|exon_3_40223711_40223864 . 0/1:99:228,0,255 . . 3 40223771 rs59923220 G A NON_SYNONYMOUS_CODING MYRIP MODERATE|MISSENSE|Gct/Act|A223T|770|MYRIP|protein_coding|CODING|ENST00000396217|exon_3_40223711_40223864 . 0/1:99:228,0,255 . . 3 40223771 rs59923220 G A NON_SYNONYMOUS_CODING MYRIP MODERATE|MISSENSE|Gct/Act|A312T|794|MYRIP|protein_coding|CODING|ENST00000425621|exon_3_40223711_40223864 . 0/1:99:228,0,255 . . 3 40223771 rs59923220 G A NON_SYNONYMOUS_CODING MYRIP MODERATE|MISSENSE|Gct/Act|A312T|859|MYRIP|protein_coding|CODING|ENST00000302541|exon_3_40223711_40223864 . 0/1:99:228,0,255 . . 3 40223771 rs59923220 G A NON_SYNONYMOUS_CODING MYRIP MODERATE|MISSENSE|Gct/Act|A312T|859|MYRIP|protein_coding|CODING|ENST00000444716|exon_3_40223711_40223864 . 0/1:99:228,0,255 . . 3 40523409 rs9852518 T G NON_SYNONYMOUS_CODING ZNF619 MODERATE|MISSENSE|gTg/gGg|V27G|576|ZNF619|protein_coding|CODING|ENST00000429348|exon_3_40523354_40523507 . 0/1:99:255,0,198 . . 3 40523409 rs9852518 T G NON_SYNONYMOUS_CODING ZNF619 MODERATE|MISSENSE|gTg/gGg|V27G|576|ZNF619|protein_coding|CODING|ENST00000432264|exon_3_40523354_40523507 . 0/1:99:255,0,198 . . 3 40523409 rs9852518 T G NON_SYNONYMOUS_CODING ZNF619 MODERATE|MISSENSE|gTg/gGg|V27G|616|ZNF619|protein_coding|CODING|ENST00000447116|exon_3_40523354_40523507 . 0/1:99:255,0,198 . . 3 40523409 rs9852518 T G NON_SYNONYMOUS_CODING ZNF619 MODERATE|MISSENSE|gTg/gGg|V27G|616|ZNF619|protein_coding|CODING|ENST00000521353|exon_3_40523354_40523507 . 0/1:99:255,0,198 . . 3 42448647 rs147770623 C T NON_SYNONYMOUS_CODING LYZL4 MODERATE|MISSENSE|Gat/Aat|D33N|146|LYZL4|protein_coding|CODING|ENST00000287748|exon_3_42448605_42448835 . . . 0/1:99:144,0,252 3 42448647 rs147770623 C T NON_SYNONYMOUS_CODING LYZL4 MODERATE|MISSENSE|Gat/Aat|D33N|146|LYZL4|protein_coding|CODING|ENST00000441172|exon_3_42448605_42448816 . . . 0/1:99:144,0,252 3 42679777 rs33969824 T G NON_SYNONYMOUS_CODING NKTR MODERATE|MISSENSE|Ttg/Gtg|L861V|1462|NKTR|protein_coding|CODING|ENST00000232978|exon_3_42678360_42681242 . . . 0/1:99:255,0,216 3 43097765 rs3732858 G A NON_SYNONYMOUS_CODING FAM198A MODERATE|MISSENSE|Ggc/Agc|G110S|139|FAM198A|protein_coding|CODING|ENST00000488863|exon_3_43097668_43097858 . . 0/1:99:231,0,254 . 3 43097765 rs3732858 G A NON_SYNONYMOUS_CODING FAM198A MODERATE|MISSENSE|Ggc/Agc|G539S|575|FAM198A|protein_coding|CODING|ENST00000430121|exon_3_43097668_43099176 . . 0/1:99:231,0,254 . 3 43389858 rs202212938 G A NON_SYNONYMOUS_CODING SNRK MODERATE|MISSENSE|Ggc/Agc|G497S|559|SNRK|protein_coding|CODING|ENST00000437827|exon_3_43388831_43390245 . . 0/1:99:245,0,255 . 3 43389858 rs202212938 G A NON_SYNONYMOUS_CODING SNRK MODERATE|MISSENSE|Ggc/Agc|G703S|765|SNRK|protein_coding|CODING|ENST00000296088|exon_3_43388831_43392630 . . 0/1:99:245,0,255 . 3 43389858 rs202212938 G A NON_SYNONYMOUS_CODING SNRK MODERATE|MISSENSE|Ggc/Agc|G703S|765|SNRK|protein_coding|CODING|ENST00000429705|exon_3_43388831_43392635 . . 0/1:99:245,0,255 . 3 43389858 rs202212938 G A NON_SYNONYMOUS_CODING SNRK MODERATE|MISSENSE|Ggc/Agc|G703S|765|SNRK|protein_coding|CODING|ENST00000454177|exon_3_43388831_43390330 . . 0/1:99:245,0,255 . 3 44488293 rs143141433 T C NON_SYNONYMOUS_CODING ZNF445 MODERATE|MISSENSE|gAa/gGa|E957G|1031|ZNF445|protein_coding|CODING|ENST00000396077|exon_3_44482406_44490231 . 0/1:99:255,0,230 . . 3 44488293 rs143141433 T C NON_SYNONYMOUS_CODING ZNF445 MODERATE|MISSENSE|gAa/gGa|E957G|1031|ZNF445|protein_coding|CODING|ENST00000425708|exon_3_44481262_44490231 . 0/1:99:255,0,230 . . 3 44612839 rs34437520 C T NON_SYNONYMOUS_CODING ZNF167 MODERATE|MISSENSE|tCc/tTc|S746F|754|ZNF167|protein_coding|CODING|ENST00000273320|exon_3_44611414_44613650 . . 0/1:99:253,0,221 . 3 44612839 rs34437520 C T NON_SYNONYMOUS_CODING ZNF167 MODERATE|MISSENSE|tCc/tTc|S746F|754|ZNF167|protein_coding|CODING|ENST00000426540|exon_3_44611414_44612986 . . 0/1:99:253,0,221 . 3 44935105 rs74776426 A G NON_SYNONYMOUS_CODING TGM4 MODERATE|MISSENSE|aAa/aGa|K156R|684|TGM4|protein_coding|CODING|ENST00000296125|exon_3_44935069_44935187 . 0/1:99:223,0,147 . . 3 45799933 rs73060335 A G NON_SYNONYMOUS_CODING SLC6A20 MODERATE|MISSENSE|tTa/tCa|L547S|547|SLC6A20|protein_coding|CODING|ENST00000456124|exon_3_45799730_45799943 . 0/1:99:255,0,255 . . 3 46007823 rs13079478 G T NON_SYNONYMOUS_CODING FYCO1 MODERATE|MISSENSE|aaC/aaA|N1001K|1478|FYCO1|protein_coding|CODING|ENST00000296137|exon_3_46007769_46010195 . . 0/1:99:213,0,180 . 3 46007823 rs13079478 G T NON_SYNONYMOUS_CODING FYCO1 MODERATE|MISSENSE|aaC/aaA|N1001K|1498|FYCO1|protein_coding|CODING|ENST00000535325|exon_3_46007769_46010195 . . 0/1:99:213,0,180 . 3 46007825 rs13059238 T C NON_SYNONYMOUS_CODING FYCO1 MODERATE|MISSENSE|Aac/Gac|N1001D|1478|FYCO1|protein_coding|CODING|ENST00000296137|exon_3_46007769_46010195 . . 0/1:99:212,0,184 . 3 46007825 rs13059238 T C NON_SYNONYMOUS_CODING FYCO1 MODERATE|MISSENSE|Aac/Gac|N1001D|1498|FYCO1|protein_coding|CODING|ENST00000535325|exon_3_46007769_46010195 . . 0/1:99:212,0,184 . 3 46009487 rs33910087 G A NON_SYNONYMOUS_CODING FYCO1 MODERATE|MISSENSE|Cgc/Tgc|R447C|1478|FYCO1|protein_coding|CODING|ENST00000296137|exon_3_46007769_46010195 . . 0/1:99:247,0,255 . 3 46009487 rs33910087 G A NON_SYNONYMOUS_CODING FYCO1 MODERATE|MISSENSE|Cgc/Tgc|R447C|1498|FYCO1|protein_coding|CODING|ENST00000535325|exon_3_46007769_46010195 . . 0/1:99:247,0,255 . 3 46620760 rs2293025 T G NON_SYNONYMOUS_CODING TDGF1 MODERATE|MISSENSE|Tac/Gac|Y27D|172|TDGF1|protein_coding|CODING|ENST00000542931|exon_3_46620722_46620856 0/1:99:205,0,247 . . . 3 46620760 rs2293025 T G NON_SYNONYMOUS_CODING TDGF1 MODERATE|MISSENSE|Tac/Gac|Y43D|188|TDGF1|protein_coding|CODING|ENST00000296145|exon_3_46620722_46620856 0/1:99:205,0,247 . . . 3 46729757 rs7642448 C G NON_SYNONYMOUS_CODING ALS2CL MODERATE|MISSENSE|Gag/Cag|E45Q|953|ALS2CL|protein_coding|CODING|ENST00000318962|exon_3_46729588_46729786 0/1:99:252,0,226 0/1:99:254,0,255 . . 3 46729757 rs7642448 C G NON_SYNONYMOUS_CODING ALS2CL MODERATE|MISSENSE|Gag/Cag|E45Q|953|ALS2CL|protein_coding|CODING|ENST00000415953|exon_3_46729588_46729786 0/1:99:252,0,226 0/1:99:254,0,255 . . 3 46759010 rs34788938 T G NON_SYNONYMOUS_CODING PRSS50 MODERATE|MISSENSE|cAg/cCg|Q75P|385|PRSS50|protein_coding|CODING|ENST00000315170|exon_3_46758927_46759127 0/1:99:167,0,219 . . . 3 46759010 rs34788938 T G NON_SYNONYMOUS_CODING PRSS50 MODERATE|MISSENSE|cAg/cCg|Q75P|385|PRSS50|protein_coding|CODING|ENST00000460241|exon_3_46758927_46759127 0/1:99:167,0,219 . . . 3 46759228 . AAGCAGCAGCAGCAG AAGCAGCAGCAGCAGCAG CODON_INSERTION PRSS50 MODERATE||gcc/gcCTGc|A24AC|385|PRSS50|protein_coding|CODING|ENST00000315170|exon_3_46759209_46759314 . 0/1:99:162,0,255 . . 3 46759228 . AAGCAGCAGCAGCAG AAGCAGCAGCAGCAGCAG CODON_INSERTION PRSS50 MODERATE||gcc/gcCTGc|A24AC|385|PRSS50|protein_coding|CODING|ENST00000460241|exon_3_46759209_46759796 . 0/1:99:162,0,255 . . 3 46775383 rs12489663 A G NON_SYNONYMOUS_CODING PRSS46 MODERATE|MISSENSE|tTc/tCc|F88S|174|PRSS46|protein_coding|CODING|ENST00000463091|exon_3_46775126_46775385 0/1:99:165,0,255 0/1:99:255,0,208 . . 3 46783959 rs58830807 T C NON_SYNONYMOUS_CODING PRSS45 MODERATE|MISSENSE|Atc/Gtc|I190V|228|PRSS45|protein_coding|CODING|ENST00000442359|exon_3_46783840_46784073 . 0/1:99:255,0,255 . . 3 46784467 rs58943210 G A NON_SYNONYMOUS_CODING PRSS45 MODERATE|MISSENSE|cCa/cTa|P130L|228|PRSS45|protein_coding|CODING|ENST00000442359|exon_3_46784403_46784572 . 0/1:99:255,0,255 . . 3 47908815 rs150907099 G A NON_SYNONYMOUS_CODING MAP4 MODERATE|MISSENSE|tCc/tTc|S110F|249|MAP4|protein_coding|CODING|ENST00000441748|exon_3_47908736_47908828 . 0/1:99:255,0,210 . . 3 47908815 rs150907099 G A NON_SYNONYMOUS_CODING MAP4 MODERATE|MISSENSE|tCc/tTc|S2141F|2297|MAP4|protein_coding|CODING|ENST00000426837|exon_3_47908736_47908828 . 0/1:99:255,0,210 . . 3 47908815 rs150907099 G A NON_SYNONYMOUS_CODING MAP4 MODERATE|MISSENSE|tCc/tTc|S324F|463|MAP4|protein_coding|CODING|ENST00000335271|exon_3_47908736_47908828 . 0/1:99:255,0,210 . . 3 47908815 rs150907099 G A NON_SYNONYMOUS_CODING MAP4 MODERATE|MISSENSE|tCc/tTc|S689F|828|MAP4|protein_coding|CODING|ENST00000420772|exon_3_47908736_47908828 . 0/1:99:255,0,210 . . 3 47908815 rs150907099 G A NON_SYNONYMOUS_CODING MAP4 MODERATE|MISSENSE|tCc/tTc|S731F|887|MAP4|protein_coding|CODING|ENST00000264724|exon_3_47908736_47908828 . 0/1:99:255,0,210 . . 3 47908815 rs150907099 G A NON_SYNONYMOUS_CODING MAP4 MODERATE|MISSENSE|tCc/tTc|S996F|1135|MAP4|protein_coding|CODING|ENST00000395734|exon_3_47908736_47908828 . 0/1:99:255,0,210 . . 3 47908815 rs150907099 G A NON_SYNONYMOUS_CODING MAP4 MODERATE|MISSENSE|tCc/tTc|S996F|1152|MAP4|protein_coding|CODING|ENST00000360240|exon_3_47908736_47908828 . 0/1:99:255,0,210 . . 3 48506279 rs76493396 G A NON_SYNONYMOUS_CODING ATRIP MODERATE|MISSENSE|cGg/cAg|R575Q|664|ATRIP|protein_coding|CODING|ENST00000357105|exon_3_48506230_48506482 . . . 0/1:99:199,0,197 3 48506279 rs76493396 G A NON_SYNONYMOUS_CODING ATRIP MODERATE|MISSENSE|cGg/cAg|R609Q|698|ATRIP|protein_coding|CODING|ENST00000412052|exon_3_48506230_48506482 . . . 0/1:99:199,0,197 3 48506279 rs76493396 G A NON_SYNONYMOUS_CODING ATRIP MODERATE|MISSENSE|cGg/cAg|R675Q|764|ATRIP|protein_coding|CODING|ENST00000346691|exon_3_48506230_48506482 . . . 0/1:99:199,0,197 3 48506279 rs76493396 G A NON_SYNONYMOUS_CODING ATRIP MODERATE|MISSENSE|cGg/cAg|R702Q|791|ATRIP|protein_coding|CODING|ENST00000320211|exon_3_48506230_48506482 . . . 0/1:99:199,0,197 3 48624040 rs2228563 C T NON_SYNONYMOUS_CODING COL7A1 MODERATE|MISSENSE|aGg/aAg|R1120K|2912|COL7A1|protein_coding|CODING|ENST00000454817|exon_3_48623996_48624122 . 0/1:99:237,0,255 . . 3 48624040 rs2228563 C T NON_SYNONYMOUS_CODING COL7A1 MODERATE|MISSENSE|aGg/aAg|R1120K|2944|COL7A1|protein_coding|CODING|ENST00000328333|exon_3_48623996_48624122 . 0/1:99:237,0,255 . . 3 48630252 rs35623035 G A NON_SYNONYMOUS_CODING COL7A1 MODERATE|MISSENSE|Cct/Tct|P268S|2912|COL7A1|protein_coding|CODING|ENST00000454817|exon_3_48630208_48630371 . 0/1:99:252,0,234 . . 3 48630252 rs35623035 G A NON_SYNONYMOUS_CODING COL7A1 MODERATE|MISSENSE|Cct/Tct|P268S|2944|COL7A1|protein_coding|CODING|ENST00000328333|exon_3_48630208_48630371 . 0/1:99:252,0,234 . . 3 48732480 rs17080319 T C NON_SYNONYMOUS_CODING IP6K2 MODERATE|MISSENSE|gAt/gGt|D137G|185|IP6K2|protein_coding|CODING|ENST00000431721|exon_3_48730954_48732854 . 0/1:99:192,0,135 . . 3 48732480 rs17080319 T C NON_SYNONYMOUS_CODING IP6K2 MODERATE|MISSENSE|gAt/gGt|D140G|188|IP6K2|protein_coding|CODING|ENST00000446860|exon_3_48731484_48732851 . 0/1:99:192,0,135 . . 3 48732480 rs17080319 T C NON_SYNONYMOUS_CODING IP6K2 MODERATE|MISSENSE|gAt/gGt|D141G|189|IP6K2|protein_coding|CODING|ENST00000443964|exon_3_48732057_48732854 . 0/1:99:192,0,135 . . 3 48732480 rs17080319 T C NON_SYNONYMOUS_CODING IP6K2 MODERATE|MISSENSE|gAt/gGt|D82G|130|IP6K2|protein_coding|CODING|ENST00000417896|exon_3_48731778_48732851 . 0/1:99:192,0,135 . . 3 48732480 rs17080319 T C NON_SYNONYMOUS_CODING IP6K2 MODERATE|MISSENSE|gAt/gGt|D82G|130|IP6K2|protein_coding|CODING|ENST00000449610|exon_3_48731218_48732854 . 0/1:99:192,0,135 . . 3 48732480 rs17080319 T C NON_SYNONYMOUS_CODING IP6K2 MODERATE|MISSENSE|gAt/gGt|D82G|130|IP6K2|protein_coding|CODING|ENST00000453202|exon_3_48732305_48732851 . 0/1:99:192,0,135 . . 3 48732846 rs61740999 G A NON_SYNONYMOUS_CODING IP6K2 MODERATE|MISSENSE|tCc/tTc|S14F|139|IP6K2|protein_coding|CODING|ENST00000454335|exon_3_48732523_48732851 . . 0/1:99:150,0,255 . 3 48732846 rs61740999 G A NON_SYNONYMOUS_CODING IP6K2 MODERATE|MISSENSE|tCc/tTc|S14F|151|IP6K2|protein_coding|CODING|ENST00000450045|exon_3_48732523_48732851 . . 0/1:99:150,0,255 . 3 48732846 rs61740999 G A NON_SYNONYMOUS_CODING IP6K2 MODERATE|MISSENSE|tCc/tTc|S14F|94|IP6K2|protein_coding|CODING|ENST00000424035|exon_3_48732602_48732851 . . 0/1:99:150,0,255 . 3 48732846 rs61740999 G A NON_SYNONYMOUS_CODING IP6K2 MODERATE|MISSENSE|tCc/tTc|S15F|185|IP6K2|protein_coding|CODING|ENST00000431721|exon_3_48730954_48732854 . . 0/1:99:150,0,255 . 3 48732846 rs61740999 G A NON_SYNONYMOUS_CODING IP6K2 MODERATE|MISSENSE|tCc/tTc|S18F|147|IP6K2|protein_coding|CODING|ENST00000455545|exon_3_48732523_48732851 . . 0/1:99:150,0,255 . 3 48732846 rs61740999 G A NON_SYNONYMOUS_CODING IP6K2 MODERATE|MISSENSE|tCc/tTc|S18F|188|IP6K2|protein_coding|CODING|ENST00000446860|exon_3_48731484_48732851 . . 0/1:99:150,0,255 . 3 48732846 rs61740999 G A NON_SYNONYMOUS_CODING IP6K2 MODERATE|MISSENSE|tCc/tTc|S19F|189|IP6K2|protein_coding|CODING|ENST00000443964|exon_3_48732057_48732854 . . 0/1:99:150,0,255 . 3 49156473 rs11552724 C G NON_SYNONYMOUS_CODING USP19 MODERATE|MISSENSE|Gat/Cat|D36H|1318|USP19|protein_coding|CODING|ENST00000398888|exon_3_49156455_49156714 . 0/1:99:255,0,219 . . 3 49156473 rs11552724 C G NON_SYNONYMOUS_CODING USP19 MODERATE|MISSENSE|Gat/Cat|D36H|1321|USP19|protein_coding|CODING|ENST00000398898|exon_3_49156455_49156720 . 0/1:99:255,0,219 . . 3 49156473 rs11552724 C G NON_SYNONYMOUS_CODING USP19 MODERATE|MISSENSE|Gat/Cat|D36H|1358|USP19|protein_coding|CODING|ENST00000398892|exon_3_49156455_49156714 . 0/1:99:255,0,219 . . 3 49156473 rs11552724 C G NON_SYNONYMOUS_CODING USP19 MODERATE|MISSENSE|Gat/Cat|D36H|1372|USP19|protein_coding|CODING|ENST00000453664|exon_3_49156455_49156714 . 0/1:99:255,0,219 . . 3 49156473 rs11552724 C G NON_SYNONYMOUS_CODING USP19 MODERATE|MISSENSE|Gat/Cat|D36H|1384|USP19|protein_coding|CODING|ENST00000417901|exon_3_49156455_49156714 . 0/1:99:255,0,219 . . 3 49156473 rs11552724 C G NON_SYNONYMOUS_CODING USP19 MODERATE|MISSENSE|Gat/Cat|D36H|1419|USP19|protein_coding|CODING|ENST00000434032|exon_3_49156455_49156714 . 0/1:99:255,0,219 . . 3 49156473 rs11552724 C G NON_SYNONYMOUS_CODING USP19 MODERATE|MISSENSE|Gat/Cat|D36H|515|USP19|protein_coding|CODING|ENST00000425298|exon_3_49156455_49156714 . 0/1:99:255,0,219 . . 3 49156473 rs11552724 C G NON_SYNONYMOUS_CODING USP19 MODERATE|MISSENSE|Gat/Cat|D36H|567|USP19|protein_coding|CODING|ENST00000306026|exon_3_49156455_49156714 . 0/1:99:255,0,219 . . 3 49274027 rs142034770 A G NON_SYNONYMOUS_CODING CCDC36 MODERATE|MISSENSE|Agt/Ggt|S25G|193|CCDC36|protein_coding|CODING|ENST00000451634|exon_3_49273981_49274155 0/1:99:255,0,255 . . . 3 49274027 rs142034770 A G NON_SYNONYMOUS_CODING CCDC36 MODERATE|MISSENSE|Agt/Ggt|S35G|203|CCDC36|protein_coding|CODING|ENST00000366429|exon_3_49273981_49274155 0/1:99:255,0,255 . . . 3 49274027 rs142034770 A G NON_SYNONYMOUS_CODING CCDC36 MODERATE|MISSENSE|Agt/Ggt|S35G|594|CCDC36|protein_coding|CODING|ENST00000296449|exon_3_49273981_49274155 0/1:99:255,0,255 . . . 3 49274027 rs142034770 A G NON_SYNONYMOUS_CODING CCDC36 MODERATE|MISSENSE|Agt/Ggt|S35G|594|CCDC36|protein_coding|CODING|ENST00000438782|exon_3_49273981_49274155 0/1:99:255,0,255 . . . 3 49274027 rs142034770 A G NON_SYNONYMOUS_CODING CCDC36 MODERATE|MISSENSE|Agt/Ggt|S35G|594|CCDC36|protein_coding|CODING|ENST00000452691|exon_3_49273981_49274155 0/1:99:255,0,255 . . . 3 49274027 rs142034770 A G NON_SYNONYMOUS_CODING CCDC36 MODERATE|MISSENSE|Agt/Ggt|S42G|574|CCDC36|protein_coding|CODING|ENST00000309062|exon_3_49273981_49274155 0/1:99:255,0,255 . . . 3 49294250 rs13068038 C A NON_SYNONYMOUS_CODING CCDC36 MODERATE|MISSENSE|gaC/gaA|D420E|574|CCDC36|protein_coding|CODING|ENST00000309062|exon_3_49293567_49295537 . 0/1:99:173,0,255 . . 3 49294250 rs13068038 C A NON_SYNONYMOUS_CODING CCDC36 MODERATE|MISSENSE|gaC/gaA|D440E|594|CCDC36|protein_coding|CODING|ENST00000296449|exon_3_49293567_49295156 . 0/1:99:173,0,255 . . 3 49294250 rs13068038 C A NON_SYNONYMOUS_CODING CCDC36 MODERATE|MISSENSE|gaC/gaA|D440E|594|CCDC36|protein_coding|CODING|ENST00000438782|exon_3_49293567_49295537 . 0/1:99:173,0,255 . . 3 49294250 rs13068038 C A NON_SYNONYMOUS_CODING CCDC36 MODERATE|MISSENSE|gaC/gaA|D440E|594|CCDC36|protein_coding|CODING|ENST00000452691|exon_3_49293567_49295156 . 0/1:99:173,0,255 . . 3 49313882 rs149243117 T C NON_SYNONYMOUS_CODING C3orf62 MODERATE|MISSENSE|Aac/Gac|N140D|189|C3orf62|protein_coding|CODING|ENST00000436325|exon_3_49313860_49314274 . . . 0/1:99:207,0,255 3 49313882 rs149243117 T C NON_SYNONYMOUS_CODING C3orf62 MODERATE|MISSENSE|Aac/Gac|N142D|267|C3orf62|protein_coding|CODING|ENST00000343010|exon_3_49313860_49315342 . . . 0/1:99:207,0,255 3 49313978 rs13077498 C T NON_SYNONYMOUS_CODING C3orf62 MODERATE|MISSENSE|Gag/Aag|E108K|189|C3orf62|protein_coding|CODING|ENST00000436325|exon_3_49313860_49314274 . 0/1:99:222,0,255 . . 3 49313978 rs13077498 C T NON_SYNONYMOUS_CODING C3orf62 MODERATE|MISSENSE|Gag/Aag|E110K|267|C3orf62|protein_coding|CODING|ENST00000343010|exon_3_49313860_49315342 . 0/1:99:222,0,255 . . 3 49335360 rs61754208 T C NON_SYNONYMOUS_CODING USP4 MODERATE|MISSENSE|aAa/aGa|K498R|916|USP4|protein_coding|CODING|ENST00000351842|exon_3_49335303_49335397 . 0/1:99:160,0,255 . . 3 49335360 rs61754208 T C NON_SYNONYMOUS_CODING USP4 MODERATE|MISSENSE|aAa/aGa|K545R|963|USP4|protein_coding|CODING|ENST00000265560|exon_3_49335303_49335397 . 0/1:99:160,0,255 . . 3 49350033 rs35446411 A C NON_SYNONYMOUS_CODING USP4 MODERATE|MISSENSE|Ttg/Gtg|L237V|313|USP4|protein_coding|CODING|ENST00000416417|exon_3_49349218_49350046 . 0/1:99:231,0,181 0/1:99:221,0,231 . 3 49690627 rs35762866 G A NON_SYNONYMOUS_CODING BSN MODERATE|MISSENSE|gGc/gAc|G1213D|3926|BSN|protein_coding|CODING|ENST00000296452|exon_3_49688976_49695629 0/1:99:184,0,250 . . . 3 49737954 rs35620248 G A NON_SYNONYMOUS_CODING RNF123 MODERATE|MISSENSE|cGg/cAg|R241Q|762|RNF123|protein_coding|CODING|ENST00000432042|exon_3_49737905_49737997 . 0/1:78:75,0,255 . . 3 49737954 rs35620248 G A NON_SYNONYMOUS_CODING RNF123 MODERATE|MISSENSE|cGg/cAg|R387Q|1314|RNF123|protein_coding|CODING|ENST00000327697|exon_3_49737905_49737997 . 0/1:78:75,0,255 . . 3 49737954 rs35620248 G A NON_SYNONYMOUS_CODING RNF123 MODERATE|MISSENSE|cGg/cAg|R387Q|1316|RNF123|protein_coding|CODING|ENST00000389066|exon_3_49737905_49737997 . 0/1:78:75,0,255 . . 3 49785440 rs139564570 A G NON_SYNONYMOUS_CODING IP6K1 MODERATE|MISSENSE|Tat/Cat|Y12H|274|IP6K1|protein_coding|CODING|ENST00000468463|exon_3_49785251_49785601 . . . 0/1:99:193,0,241 3 49785440 rs139564570 A G NON_SYNONYMOUS_CODING IP6K1 MODERATE|MISSENSE|Tat/Cat|Y12H|441|IP6K1|protein_coding|CODING|ENST00000321599|exon_3_49785251_49785601 . . . 0/1:99:193,0,241 3 50327010 rs34364099 T C NON_SYNONYMOUS_CODING IFRD2 MODERATE|MISSENSE|tAt/tGt|Y216C|442|IFRD2|protein_coding|CODING|ENST00000417626|exon_3_50326878_50327059 . 0/1:99:255,0,208 0/1:99:255,0,138 . 3 50327010 rs34364099 T C NON_SYNONYMOUS_CODING IFRD2 MODERATE|MISSENSE|tAt/tGt|Y216C|442|IFRD2|protein_coding|CODING|ENST00000436390|exon_3_50326878_50327059 . 0/1:99:255,0,208 0/1:99:255,0,138 . 3 50327010 rs34364099 T C NON_SYNONYMOUS_CODING IFRD2 MODERATE|MISSENSE|tAt/tGt|Y280C|506|IFRD2|protein_coding|CODING|ENST00000429673|exon_3_50326878_50327059 . 0/1:99:255,0,208 0/1:99:255,0,138 . 3 50327010 rs34364099 T C NON_SYNONYMOUS_CODING IFRD2 MODERATE|MISSENSE|tAt/tGt|Y382C|608|IFRD2|protein_coding|CODING|ENST00000336089|exon_3_50326878_50327059 . 0/1:99:255,0,208 0/1:99:255,0,138 . 3 50369546 rs2073498 C A NON_SYNONYMOUS_CODING RASSF1 MODERATE|MISSENSE|Gct/Tct|A133S|340|RASSF1|protein_coding|CODING|ENST00000359365|exon_3_50369481_50369585 . . 0/1:99:255,0,255 . 3 50369546 rs2073498 C A NON_SYNONYMOUS_CODING RASSF1 MODERATE|MISSENSE|Gct/Tct|A137S|344|RASSF1|protein_coding|CODING|ENST00000357043|exon_3_50369481_50369585 . . 0/1:99:255,0,255 . 3 50369546 rs2073498 C A NON_SYNONYMOUS_CODING RASSF1 MODERATE|MISSENSE|Gct/Tct|A63S|270|RASSF1|protein_coding|CODING|ENST00000327761|exon_3_50369481_50369585 . . 0/1:99:255,0,255 . 3 50402131 rs150832847 G A NON_SYNONYMOUS_CODING CACNA2D2 MODERATE|MISSENSE|cCt/cTt|P1066L|1076|CACNA2D2|protein_coding|CODING|ENST00000360963|exon_3_50400233_50402237 . 0/1:99:192,0,156 0/1:99:156,0,105 . 3 50402131 rs150832847 G A NON_SYNONYMOUS_CODING CACNA2D2 MODERATE|MISSENSE|cCt/cTt|P1133L|1143|CACNA2D2|protein_coding|CODING|ENST00000424201|exon_3_50400323_50402237 . 0/1:99:192,0,156 0/1:99:156,0,105 . 3 50402131 rs150832847 G A NON_SYNONYMOUS_CODING CACNA2D2 MODERATE|MISSENSE|cCt/cTt|P1134L|1144|CACNA2D2|protein_coding|CODING|ENST00000429770|exon_3_50400233_50402237 . 0/1:99:192,0,156 0/1:99:156,0,105 . 3 50402131 rs150832847 G A NON_SYNONYMOUS_CODING CACNA2D2 MODERATE|MISSENSE|cCt/cTt|P1135L|1145|CACNA2D2|protein_coding|CODING|ENST00000266039|exon_3_50400233_50402237 . 0/1:99:192,0,156 0/1:99:156,0,105 . 3 50402131 rs150832847 G A NON_SYNONYMOUS_CODING CACNA2D2 MODERATE|MISSENSE|cCt/cTt|P1136L|1146|CACNA2D2|protein_coding|CODING|ENST00000395083|exon_3_50400233_50402237 . 0/1:99:192,0,156 0/1:99:156,0,105 . 3 50402131 rs150832847 G A NON_SYNONYMOUS_CODING CACNA2D2 MODERATE|MISSENSE|cCt/cTt|P1140L|1150|CACNA2D2|protein_coding|CODING|ENST00000479441|exon_3_50402097_50402237 . 0/1:99:192,0,156 0/1:99:156,0,105 . 3 50402131 rs150832847 G A NON_SYNONYMOUS_CODING CACNA2D2 MODERATE|MISSENSE|cCt/cTt|P1143L|1153|CACNA2D2|protein_coding|CODING|ENST00000423994|exon_3_50400233_50402237 . 0/1:99:192,0,156 0/1:99:156,0,105 . 3 50402131 rs150832847 G A NON_SYNONYMOUS_CODING CACNA2D2 MODERATE|MISSENSE|cCt/cTt|P1143L|1153|CACNA2D2|protein_coding|CODING|ENST00000435965|exon_3_50400233_50402237 . 0/1:99:192,0,156 0/1:99:156,0,105 . 3 51418955 . C T NON_SYNONYMOUS_CODING DOCK3 MODERATE|MISSENSE|Cgc/Tgc|R2020C|2030|DOCK3|protein_coding|CODING|ENST00000266037|exon_3_51418481_51421329 . . . 0/1:99:98,0,255 3 51895693 rs114750576 G A NON_SYNONYMOUS_CODING IQCF2 MODERATE|MISSENSE|cGa/cAa|R4Q|164|IQCF2|protein_coding|CODING|ENST00000333127|exon_3_51895654_51895700 0/1:99:232,0,255 . . . 3 51992141 rs149099513 G A NON_SYNONYMOUS_CODING PCBP4 MODERATE|MISSENSE|aCt/aTt|T223I|243|PCBP4|protein_coding|CODING|ENST00000395013|exon_3_51991475_51992365 . . 0/1:99:243,0,177 . 3 51992141 rs149099513 G A NON_SYNONYMOUS_CODING PCBP4 MODERATE|MISSENSE|aCt/aTt|T340I|360|PCBP4|protein_coding|CODING|ENST00000428823|exon_3_51991476_51992365 . . 0/1:99:243,0,177 . 3 51992141 rs149099513 G A NON_SYNONYMOUS_CODING PCBP4 MODERATE|MISSENSE|aCt/aTt|T340I|360|PCBP4|protein_coding|CODING|ENST00000484633|exon_3_51991474_51992365 . . 0/1:99:243,0,177 . 3 51992141 rs149099513 G A NON_SYNONYMOUS_CODING PCBP4 MODERATE|MISSENSE|aCt/aTt|T383I|403|PCBP4|protein_coding|CODING|ENST00000322099|exon_3_51991472_51992365 . . 0/1:99:243,0,177 . 3 51992141 rs149099513 G A NON_SYNONYMOUS_CODING PCBP4 MODERATE|MISSENSE|aCt/aTt|T383I|403|PCBP4|protein_coding|CODING|ENST00000355852|exon_3_51991470_51992365 . . 0/1:99:243,0,177 . 3 51992141 rs149099513 G A NON_SYNONYMOUS_CODING PCBP4 MODERATE|MISSENSE|aCt/aTt|T383I|403|PCBP4|protein_coding|CODING|ENST00000461554|exon_3_51991474_51992365 . . 0/1:99:243,0,177 . 3 51992141 rs149099513 G A NON_SYNONYMOUS_CODING PCBP4 MODERATE|MISSENSE|aCt/aTt|T404I|424|PCBP4|protein_coding|CODING|ENST00000395014|exon_3_51991476_51992365 . . 0/1:99:243,0,177 . 3 52011912 rs17849626 G A NON_SYNONYMOUS_CODING ABHD14A MODERATE|MISSENSE|cGg/cAg|R27Q|151|ABHD14A|protein_coding|CODING|ENST00000494478|exon_3_52011887_52012098 . . 0/1:99:255,0,205 . 3 52011912 rs17849626 G A NON_SYNONYMOUS_CODING ABHD14A MODERATE|MISSENSE|cGg/cAg|R32Q|124|ABHD14A|protein_coding|CODING|ENST00000491470|exon_3_52011887_52012098 . . 0/1:99:255,0,205 . 3 52011912 rs17849626 G A NON_SYNONYMOUS_CODING ABHD14A MODERATE|MISSENSE|cGg/cAg|R32Q|271|ABHD14A|protein_coding|CODING|ENST00000273596|exon_3_52011887_52012098 . . 0/1:99:255,0,205 . 3 52011912 rs17849626 G A NON_SYNONYMOUS_CODING RP11-155D18.11.1 MODERATE|MISSENSE|cGg/cAg|R32Q|509|RP11-155D18.11.1|protein_coding|CODING|ENST00000463937|exon_3_52011887_52012098 . . 0/1:99:255,0,205 . 3 52011912 rs17849626 G A NON_SYNONYMOUS_CODING ABHD14A MODERATE|MISSENSE|cGg/cAg|R97Q|223|ABHD14A|protein_coding|CODING|ENST00000497864|exon_3_52011887_52012098 . . 0/1:99:255,0,205 . 3 52012320 rs41292350 G A NON_SYNONYMOUS_CODING ACY1 MODERATE|MISSENSE|cGt/cAt|R61H|498|ACY1|protein_coding|CODING|ENST00000458031|exon_3_52012275_52012390 . . . 0/1:99:117,0,235 3 52474986 . C T NON_SYNONYMOUS_CODING SEMA3G MODERATE|MISSENSE|Ggc/Agc|G298S|782|SEMA3G|protein_coding|CODING|ENST00000231721|exon_3_52474950_52475064 . 0/1:99:210,0,156 . . 3 52550120 rs137973209 G A NON_SYNONYMOUS_CODING STAB1 MODERATE|MISSENSE|gGg/gAg|G1337E|2570|STAB1|protein_coding|CODING|ENST00000321725|exon_3_52550059_52550254 . . . 0/1:99:105,0,167 3 52557921 rs188353907 C T NON_SYNONYMOUS_CODING STAB1 MODERATE|MISSENSE|gCg/gTg|A2477V|2570|STAB1|protein_coding|CODING|ENST00000321725|exon_3_52557887_52558033 0/1:99:198,0,181 . . . 3 52817327 rs12638839 C G NON_SYNONYMOUS_CODING ITIH1 MODERATE|MISSENSE|atC/atG|I111M|623|ITIH1|protein_coding|CODING|ENST00000537050|exon_3_52817230_52817355 0/1:99:233,0,132 . . . 3 52817327 rs12638839 C G NON_SYNONYMOUS_CODING ITIH1 MODERATE|MISSENSE|atC/atG|I257M|769|ITIH1|protein_coding|CODING|ENST00000540715|exon_3_52817230_52817355 0/1:99:233,0,132 . . . 3 52817327 rs12638839 C G NON_SYNONYMOUS_CODING ITIH1 MODERATE|MISSENSE|atC/atG|I399M|645|ITIH1|protein_coding|CODING|ENST00000542827|exon_3_52817230_52817355 0/1:99:233,0,132 . . . 3 52817327 rs12638839 C G NON_SYNONYMOUS_CODING ITIH1 MODERATE|MISSENSE|atC/atG|I399M|911|ITIH1|protein_coding|CODING|ENST00000273283|exon_3_52817230_52817355 0/1:99:233,0,132 . . . 3 53892830 rs2232346 T C NON_SYNONYMOUS_CODING IL17RB MODERATE|MISSENSE|Ttc/Ctc|F262L|347|IL17RB|protein_coding|CODING|ENST00000494338|exon_3_53892746_53892845 . 0/1:99:255,0,255 . . 3 53892830 rs2232346 T C NON_SYNONYMOUS_CODING IL17RB MODERATE|MISSENSE|Ttc/Ctc|F278L|502|IL17RB|protein_coding|CODING|ENST00000288167|exon_3_53892746_53892845 . 0/1:99:255,0,255 . . 3 53914093 rs3733082 G A NON_SYNONYMOUS_CODING ACTR8 MODERATE|MISSENSE|aCa/aTa|T56I|624|ACTR8|protein_coding|CODING|ENST00000335754|exon_3_53913966_53914136 0/1:99:255,0,133 . . . 3 56667503 . C T NON_SYNONYMOUS_CODING FAM208A MODERATE|MISSENSE|Gat/Aat|D1045N|1609|FAM208A|protein_coding|CODING|ENST00000355628|exon_3_56667072_56667871 . . . 0/1:99:255,0,239 3 56667503 . C T NON_SYNONYMOUS_CODING FAM208A MODERATE|MISSENSE|Gat/Aat|D1106N|1512|FAM208A|protein_coding|CODING|ENST00000493960|exon_3_56667072_56667994 . . . 0/1:99:255,0,239 3 56667503 . C T NON_SYNONYMOUS_CODING FAM208A MODERATE|MISSENSE|Gat/Aat|D669N|1233|FAM208A|protein_coding|CODING|ENST00000431842|exon_3_56667072_56667871 . . . 0/1:99:255,0,239 3 56680925 rs149882815 A T NON_SYNONYMOUS_CODING FAM208A MODERATE|MISSENSE|Tta/Ata|L218I|1233|FAM208A|protein_coding|CODING|ENST00000431842|exon_3_56680550_56681251 . . . 0/1:99:255,0,255 3 56680925 rs149882815 A T NON_SYNONYMOUS_CODING FAM208A MODERATE|MISSENSE|Tta/Ata|L614I|1512|FAM208A|protein_coding|CODING|ENST00000493960|exon_3_56680550_56681251 . . . 0/1:99:255,0,255 3 56680925 rs149882815 A T NON_SYNONYMOUS_CODING FAM208A MODERATE|MISSENSE|Tta/Ata|L614I|1609|FAM208A|protein_coding|CODING|ENST00000355628|exon_3_56680550_56681251 . . . 0/1:99:255,0,255 3 57176503 rs111808871 G A NON_SYNONYMOUS_CODING IL17RD MODERATE|MISSENSE|gCg/gTg|A11V|715|IL17RD|protein_coding|CODING|ENST00000427856|exon_3_57176481_57176534 0/1:99:235,0,221 . . . 3 57414434 rs4462937 A G NON_SYNONYMOUS_CODING DNAH12 MODERATE|MISSENSE|Tat/Cat|Y1704H|3092|DNAH12|protein_coding|CODING|ENST00000351747|exon_3_57414377_57414548 1/1:99:255,114,0 1/1:99:255,87,0 0/1:99:255,0,255 . 3 57414434 rs4462937 A G NON_SYNONYMOUS_CODING DNAH12 MODERATE|MISSENSE|Tat/Cat|Y1727H|2315|DNAH12|protein_coding|CODING|ENST00000495027|exon_3_57414360_57414548 1/1:99:255,114,0 1/1:99:255,87,0 0/1:99:255,0,255 . 3 57419376 . T C NON_SYNONYMOUS_CODING DNAH12 MODERATE|MISSENSE|cAt/cGt|H1589R|3092|DNAH12|protein_coding|CODING|ENST00000351747|exon_3_57419372_57419555 . . 0/1:99:255,0,219 . 3 57419376 . T C NON_SYNONYMOUS_CODING DNAH12 MODERATE|MISSENSE|cAt/cGt|H1612R|2315|DNAH12|protein_coding|CODING|ENST00000495027|exon_3_57419372_57419555 . . 0/1:99:255,0,219 . 3 57494263 rs79825658 G T NON_SYNONYMOUS_CODING DNAH12 MODERATE|MISSENSE|Cta/Ata|L183I|2315|DNAH12|protein_coding|CODING|ENST00000495027|exon_3_57494109_57494267 0/1:99:252,0,255 . . . 3 57494263 rs79825658 G T NON_SYNONYMOUS_CODING DNAH12 MODERATE|MISSENSE|Cta/Ata|L183I|3092|DNAH12|protein_coding|CODING|ENST00000351747|exon_3_57494109_57494267 0/1:99:252,0,255 . . . 3 57494263 rs79825658 G T NON_SYNONYMOUS_CODING DNAH12 MODERATE|MISSENSE|Cta/Ata|L183I|457|DNAH12|protein_coding|CODING|ENST00000311202|exon_3_57494109_57494267 0/1:99:252,0,255 . . . 3 57494263 rs79825658 G T NON_SYNONYMOUS_CODING DNAH12 MODERATE|MISSENSE|Cta/Ata|L183I|784|DNAH12|protein_coding|CODING|ENST00000389536|exon_3_57494109_57494267 0/1:99:252,0,255 . . . 3 58109123 rs199959926 G C NON_SYNONYMOUS_CODING FLNB MODERATE|MISSENSE|Gag/Cag|E1144Q|2150|FLNB|protein_coding|CODING|ENST00000357272|exon_3_58108820_58109417 0/1:99:124,0,255 . . . 3 58109123 rs199959926 G C NON_SYNONYMOUS_CODING FLNB MODERATE|MISSENSE|Gag/Cag|E1144Q|2561|FLNB|protein_coding|CODING|ENST00000348383|exon_3_58108820_58109417 0/1:99:124,0,255 . . . 3 58109123 rs199959926 G C NON_SYNONYMOUS_CODING FLNB MODERATE|MISSENSE|Gag/Cag|E1144Q|2578|FLNB|protein_coding|CODING|ENST00000358537|exon_3_58108820_58109417 0/1:99:124,0,255 . . . 3 58109123 rs199959926 G C NON_SYNONYMOUS_CODING FLNB MODERATE|MISSENSE|Gag/Cag|E1144Q|2591|FLNB|protein_coding|CODING|ENST00000429972|exon_3_58108820_58109417 0/1:99:124,0,255 . . . 3 58109123 rs199959926 G C NON_SYNONYMOUS_CODING FLNB MODERATE|MISSENSE|Gag/Cag|E1144Q|2602|FLNB|protein_coding|CODING|ENST00000295956|exon_3_58108820_58109417 0/1:99:124,0,255 . . . 3 58109123 rs199959926 G C NON_SYNONYMOUS_CODING FLNB MODERATE|MISSENSE|Gag/Cag|E1144Q|2633|FLNB|protein_coding|CODING|ENST00000490882|exon_3_58108820_58109417 0/1:99:124,0,255 . . . 3 58109123 rs199959926 G C NON_SYNONYMOUS_CODING FLNB MODERATE|MISSENSE|Gag/Cag|E975Q|2409|FLNB|protein_coding|CODING|ENST00000493452|exon_3_58108820_58109417 0/1:99:124,0,255 . . . 3 58109123 rs199959926 G C NON_SYNONYMOUS_CODING FLNB MODERATE|MISSENSE|Gag/Cag|E975Q|2422|FLNB|protein_coding|CODING|ENST00000419752|exon_3_58108820_58109417 0/1:99:124,0,255 . . . 3 58303744 . G A NON_SYNONYMOUS_CODING RP11-80H18.3.1 MODERATE|MISSENSE|cGg/cAg|R135Q|168|RP11-80H18.3.1|protein_coding|CODING|ENST00000528153|exon_3_58303341_58303847 . . 0/1:99:255,0,230 . 3 58303744 . G A NON_SYNONYMOUS_CODING RP11-80H18.3.1 MODERATE|MISSENSE|cGg/cAg|R135Q|168|RP11-80H18.3.1|protein_coding|CODING|ENST00000544156|exon_3_58303167_58305920 . . 0/1:99:255,0,230 . 3 58508267 . C T NON_SYNONYMOUS_CODING ACOX2 MODERATE|MISSENSE|Gag/Aag|E516K|667|ACOX2|protein_coding|CODING|ENST00000459701|exon_3_58508223_58508328 . 0/1:99:255,0,197 . . 3 58508267 . C T NON_SYNONYMOUS_CODING ACOX2 MODERATE|MISSENSE|Gag/Aag|E530K|681|ACOX2|protein_coding|CODING|ENST00000302819|exon_3_58508223_58508328 . 0/1:99:255,0,197 . . 3 58574944 rs73091460 C T NON_SYNONYMOUS_CODING FAM107A MODERATE|MISSENSE|cGa/cAa|R26Q|175|FAM107A|protein_coding|CODING|ENST00000474531|exon_3_58574933_58574996 0/1:99:255,0,204 . 0/1:99:255,0,255 . 3 62278188 . C T NON_SYNONYMOUS_CODING PTPRG MODERATE|MISSENSE|gCa/gTa|A1354V|1416|PTPRG|protein_coding|CODING|ENST00000295874|exon_3_62278096_62278231 . 0/1:99:255,0,255 . . 3 62278188 . C T NON_SYNONYMOUS_CODING PTPRG MODERATE|MISSENSE|gCa/gTa|A1383V|1445|PTPRG|protein_coding|CODING|ENST00000474889|exon_3_62278096_62278231 . 0/1:99:255,0,255 . . 3 63898378 . A C NON_SYNONYMOUS_CODING ATXN7 MODERATE|MISSENSE|cAg/cCg|Q35P|129|ATXN7|protein_coding|CODING|ENST00000539129|exon_3_63898275_63898600 . 0/1:24:83,0,21 . . 3 63898378 . A C NON_SYNONYMOUS_CODING ATXN7 MODERATE|MISSENSE|cAg/cCg|Q35P|892|ATXN7|protein_coding|CODING|ENST00000295900|exon_3_63898264_63898599 . 0/1:24:83,0,21 . . 3 63898378 . A C NON_SYNONYMOUS_CODING ATXN7 MODERATE|MISSENSE|cAg/cCg|Q35P|892|ATXN7|protein_coding|CODING|ENST00000487717|exon_3_63898264_63898599 . 0/1:24:83,0,21 . . 3 63898378 . A C NON_SYNONYMOUS_CODING ATXN7 MODERATE|MISSENSE|cAg/cCg|Q35P|945|ATXN7|protein_coding|CODING|ENST00000398590|exon_3_63898264_63898599 . 0/1:24:83,0,21 . . 3 63898378 . A C NON_SYNONYMOUS_CODING ATXN7 MODERATE|MISSENSE|cAg/cCg|Q35P|945|ATXN7|protein_coding|CODING|ENST00000538065|exon_3_63898275_63898599 . 0/1:24:83,0,21 . . 3 63981399 rs138640161 C T NON_SYNONYMOUS_CODING ATXN7 MODERATE|MISSENSE|gCg/gTg|A489V|747|ATXN7|protein_coding|CODING|ENST00000484332|exon_3_63981181_63982159 . 0/1:99:237,0,255 . . 3 63981399 rs138640161 C T NON_SYNONYMOUS_CODING ATXN7 MODERATE|MISSENSE|gCg/gTg|A634V|892|ATXN7|protein_coding|CODING|ENST00000295900|exon_3_63981181_63982159 . 0/1:99:237,0,255 . . 3 63981399 rs138640161 C T NON_SYNONYMOUS_CODING ATXN7 MODERATE|MISSENSE|gCg/gTg|A634V|892|ATXN7|protein_coding|CODING|ENST00000487717|exon_3_63981181_63982159 . 0/1:99:237,0,255 . . 3 63981399 rs138640161 C T NON_SYNONYMOUS_CODING ATXN7 MODERATE|MISSENSE|gCg/gTg|A634V|945|ATXN7|protein_coding|CODING|ENST00000398590|exon_3_63981181_63982159 . 0/1:99:237,0,255 . . 3 63981399 rs138640161 C T NON_SYNONYMOUS_CODING ATXN7 MODERATE|MISSENSE|gCg/gTg|A634V|945|ATXN7|protein_coding|CODING|ENST00000538065|exon_3_63981181_63982159 . 0/1:99:237,0,255 . . 3 64518943 . G T NON_SYNONYMOUS_CODING ADAMTS9 MODERATE|MISSENSE|Cgt/Agt|R1845S|1907|ADAMTS9|protein_coding|CODING|ENST00000295903|exon_3_64518842_64518946 0/1:99:132,0,255 . . . 3 64518943 . G T NON_SYNONYMOUS_CODING ADAMTS9 MODERATE|MISSENSE|Cgt/Agt|R1873S|1935|ADAMTS9|protein_coding|CODING|ENST00000498707|exon_3_64518842_64518946 0/1:99:132,0,255 . . . 3 67705004 . A T NON_SYNONYMOUS_CODING SUCLG2 MODERATE|MISSENSE|Tcc/Acc|S3T|379|SUCLG2|protein_coding|CODING|ENST00000492795|exon_3_67704927_67705031 0/1:99:134,0,216 . . . 3 67705004 . A T NON_SYNONYMOUS_CODING SUCLG2 MODERATE|MISSENSE|Tcc/Acc|S3T|432|SUCLG2|protein_coding|CODING|ENST00000307227|exon_3_67704927_67705038 0/1:99:134,0,216 . . . 3 67705004 . A T NON_SYNONYMOUS_CODING SUCLG2 MODERATE|MISSENSE|Tcc/Acc|S3T|440|SUCLG2|protein_coding|CODING|ENST00000493112|exon_3_67704927_67705034 0/1:99:134,0,216 . . . 3 70014091 rs149617956 G A NON_SYNONYMOUS_CODING MITF MODERATE|MISSENSE|Gaa/Aaa|E256K|357|MITF|protein_coding|CODING|ENST00000531774|exon_3_70013998_70014399 . . 0/1:99:255,0,211 . 3 70014091 rs149617956 G A NON_SYNONYMOUS_CODING MITF MODERATE|MISSENSE|Gaa/Aaa|E312K|413|MITF|protein_coding|CODING|ENST00000314557|exon_3_70013998_70014819 . . 0/1:99:255,0,211 . 3 70014091 rs149617956 G A NON_SYNONYMOUS_CODING MITF MODERATE|MISSENSE|Gaa/Aaa|E318K|419|MITF|protein_coding|CODING|ENST00000394351|exon_3_70013998_70014975 . . 0/1:99:255,0,211 . 3 70014091 rs149617956 G A NON_SYNONYMOUS_CODING MITF MODERATE|MISSENSE|Gaa/Aaa|E367K|468|MITF|protein_coding|CODING|ENST00000472437|exon_3_70013998_70014798 . . 0/1:99:255,0,211 . 3 70014091 rs149617956 G A NON_SYNONYMOUS_CODING MITF MODERATE|MISSENSE|Gaa/Aaa|E394K|495|MITF|protein_coding|CODING|ENST00000394355|exon_3_70013998_70017484 . . 0/1:99:255,0,211 . 3 70014091 rs149617956 G A NON_SYNONYMOUS_CODING MITF MODERATE|MISSENSE|Gaa/Aaa|E403K|504|MITF|protein_coding|CODING|ENST00000314589|exon_3_70013998_70014798 . . 0/1:99:255,0,211 . 3 70014091 rs149617956 G A NON_SYNONYMOUS_CODING MITF MODERATE|MISSENSE|Gaa/Aaa|E418K|519|MITF|protein_coding|CODING|ENST00000328528|exon_3_70013998_70017488 . . 0/1:99:255,0,211 . 3 70014091 rs149617956 G A NON_SYNONYMOUS_CODING MITF MODERATE|MISSENSE|Gaa/Aaa|E419K|520|MITF|protein_coding|CODING|ENST00000352241|exon_3_70013998_70017487 . . 0/1:99:255,0,211 . 3 70014091 rs149617956 G A NON_SYNONYMOUS_CODING MITF MODERATE|MISSENSE|Gaa/Aaa|E425K|526|MITF|protein_coding|CODING|ENST00000448226|exon_3_70013998_70015180 . . 0/1:99:255,0,211 . 3 75787186 rs150410646 C T NON_SYNONYMOUS_CODING ZNF717 MODERATE|MISSENSE|Gct/Act|A480T|864|ZNF717|protein_coding|CODING|ENST00000478296|exon_3_75785026_75788496 0/1:65:72,0,62 . . . 3 75787186 rs150410646 C T NON_SYNONYMOUS_CODING ZNF717 MODERATE|MISSENSE|Gct/Act|A523T|907|ZNF717|protein_coding|CODING|ENST00000400845|exon_3_75786029_75788496 0/1:65:72,0,62 . . . 3 75787186 rs150410646 C T NON_SYNONYMOUS_CODING ZNF717 MODERATE|MISSENSE|Gct/Act|A530T|914|ZNF717|protein_coding|CODING|ENST00000422325|exon_3_75786029_75788496 0/1:65:72,0,62 . . . 3 81627175 rs2228389 T C NON_SYNONYMOUS_CODING GBE1 MODERATE|MISSENSE|Act/Gct|T270A|465|GBE1|protein_coding|CODING|ENST00000536832|exon_3_81627076_81627247 . . . 0/1:99:255,0,231 3 81627175 rs2228389 T C NON_SYNONYMOUS_CODING GBE1 MODERATE|MISSENSE|Act/Gct|T466A|661|GBE1|protein_coding|CODING|ENST00000489715|exon_3_81627076_81627247 . . . 0/1:99:255,0,231 3 81627175 rs2228389 T C NON_SYNONYMOUS_CODING GBE1 MODERATE|MISSENSE|Act/Gct|T507A|702|GBE1|protein_coding|CODING|ENST00000429644|exon_3_81627076_81627247 . . . 0/1:99:255,0,231 3 81627175 rs2228389 T C NON_SYNONYMOUS_CODING GBE1 MODERATE|MISSENSE|Act/Gct|T558A|753|GBE1|protein_coding|CODING|ENST00000264326|exon_3_81627076_81627247 . . . 0/1:99:255,0,231 3 81691938 rs80338671 T C NON_SYNONYMOUS_CODING GBE1 MODERATE|MISSENSE|tAc/tGc|Y288C|661|GBE1|protein_coding|CODING|ENST00000489715|exon_3_81691932_81692141 . 0/1:99:255,0,255 . . 3 81691938 rs80338671 T C NON_SYNONYMOUS_CODING GBE1 MODERATE|MISSENSE|tAc/tGc|Y329C|702|GBE1|protein_coding|CODING|ENST00000429644|exon_3_81691932_81692141 . 0/1:99:255,0,255 . . 3 81691938 rs80338671 T C NON_SYNONYMOUS_CODING GBE1 MODERATE|MISSENSE|tAc/tGc|Y380C|753|GBE1|protein_coding|CODING|ENST00000264326|exon_3_81691932_81692141 . 0/1:99:255,0,255 . . 3 81691938 rs80338671 T C NON_SYNONYMOUS_CODING GBE1 MODERATE|MISSENSE|tAc/tGc|Y92C|465|GBE1|protein_coding|CODING|ENST00000536832|exon_3_81691932_81692141 . 0/1:99:255,0,255 . . 3 93780109 rs61739170 G C NON_SYNONYMOUS_CODING DHFRL1 MODERATE|MISSENSE|Cct/Gct|P83A|113|DHFRL1|protein_coding|CODING|ENST00000496983|exon_3_93780013_93780450 . 0/1:99:255,0,255 0/1:99:255,0,255 0/1:99:255,0,231 3 93780109 rs61739170 G C NON_SYNONYMOUS_CODING DHFRL1 MODERATE|MISSENSE|Cct/Gct|P83A|187|DHFRL1|protein_coding|CODING|ENST00000314636|exon_3_93776766_93780450 . 0/1:99:255,0,255 0/1:99:255,0,255 0/1:99:255,0,231 3 93780109 rs61739170 G C NON_SYNONYMOUS_CODING DHFRL1 MODERATE|MISSENSE|Cct/Gct|P83A|187|DHFRL1|protein_coding|CODING|ENST00000394221|exon_3_93776768_93780450 . 0/1:99:255,0,255 0/1:99:255,0,255 0/1:99:255,0,231 3 100170600 rs76354691 A T NON_SYNONYMOUS_CODING LNP1 MODERATE|MISSENSE|cAt/cTt|H65L|178|LNP1|protein_coding|CODING|ENST00000383693|exon_3_100170563_100170793 0/1:64:61,0,174 . . . 3 100170600 rs76354691 A T NON_SYNONYMOUS_CODING LNP1 MODERATE|MISSENSE|cAt/cTt|H78L|191|LNP1|protein_coding|CODING|ENST00000489752|exon_3_100170524_100170793 0/1:64:61,0,174 . . . 3 100560860 rs73135597 G A NON_SYNONYMOUS_CODING ABI3BP MODERATE|MISSENSE|Cca/Tca|P590S|1005|ABI3BP|protein_coding|CODING|ENST00000495063|exon_3_100560842_100560883 . 0/1:99:255,0,255 . . 3 100560860 rs73135597 G A NON_SYNONYMOUS_CODING ABI3BP MODERATE|MISSENSE|Cca/Tca|P590S|1777|ABI3BP|protein_coding|CODING|ENST00000471714|exon_3_100560842_100560883 . 0/1:99:255,0,255 . . 3 101445570 rs111912421 G A NON_SYNONYMOUS_CODING CEP97 MODERATE|MISSENSE|cGa/cAa|R59Q|806|CEP97|protein_coding|CODING|ENST00000494050|exon_3_101445438_101445580 . 0/1:99:255,0,255 . . 3 101445570 rs111912421 G A NON_SYNONYMOUS_CODING CEP97 MODERATE|MISSENSE|cGa/cAa|R59Q|865|CEP97|protein_coding|CODING|ENST00000341893|exon_3_101445438_101445580 . 0/1:99:255,0,255 . . 3 101445570 rs111912421 G A NON_SYNONYMOUS_CODING CEP97 MODERATE|MISSENSE|cGa/cAa|R59Q|891|CEP97|protein_coding|CODING|ENST00000327230|exon_3_101445438_101445580 . 0/1:99:255,0,255 . . 3 101540387 rs35598292 T G NON_SYNONYMOUS_CODING FAM55C MODERATE|MISSENSE|caT/caG|H423Q|559|FAM55C|protein_coding|CODING|ENST00000273347|exon_3_101540248_101542467 . . . 0/1:99:177,0,169 3 101540387 rs35598292 T G NON_SYNONYMOUS_CODING FAM55C MODERATE|MISSENSE|caT/caG|H423Q|559|FAM55C|protein_coding|CODING|ENST00000422132|exon_3_101540248_101547073 . . . 0/1:99:177,0,169 3 101540387 rs35598292 T G NON_SYNONYMOUS_CODING FAM55C MODERATE|MISSENSE|caT/caG|H423Q|559|FAM55C|protein_coding|CODING|ENST00000477909|exon_3_101540248_101541667 . . . 0/1:99:177,0,169 3 101540387 rs35598292 T G NON_SYNONYMOUS_CODING FAM55C MODERATE|MISSENSE|caT/caG|H423Q|559|FAM55C|protein_coding|CODING|ENST00000491511|exon_3_101540248_101542771 . . . 0/1:99:177,0,169 3 102157365 rs6784362 A T NON_SYNONYMOUS_CODING ZPLD1 MODERATE|MISSENSE|Att/Ttt|I12F|415|ZPLD1|protein_coding|CODING|ENST00000466937|exon_3_102157324_102157437 0/1:99:255,0,255 . 0/1:99:244,0,250 . 3 102157365 rs6784362 A T NON_SYNONYMOUS_CODING ZPLD1 MODERATE|MISSENSE|Att/Ttt|I12F|415|ZPLD1|protein_coding|CODING|ENST00000491959|exon_3_102157324_102157437 0/1:99:255,0,255 . 0/1:99:244,0,250 . 3 102157365 rs6784362 A T NON_SYNONYMOUS_CODING ZPLD1 MODERATE|MISSENSE|Att/Ttt|I28F|431|ZPLD1|protein_coding|CODING|ENST00000306176|exon_3_102157324_102157437 0/1:99:255,0,255 . 0/1:99:244,0,250 . 3 102157417 rs6784389 A G NON_SYNONYMOUS_CODING ZPLD1 MODERATE|MISSENSE|aAc/aGc|N29S|415|ZPLD1|protein_coding|CODING|ENST00000466937|exon_3_102157324_102157437 0/1:99:255,0,249 . 0/1:99:255,0,172 . 3 102157417 rs6784389 A G NON_SYNONYMOUS_CODING ZPLD1 MODERATE|MISSENSE|aAc/aGc|N29S|415|ZPLD1|protein_coding|CODING|ENST00000491959|exon_3_102157324_102157437 0/1:99:255,0,249 . 0/1:99:255,0,172 . 3 102157417 rs6784389 A G NON_SYNONYMOUS_CODING ZPLD1 MODERATE|MISSENSE|aAc/aGc|N45S|431|ZPLD1|protein_coding|CODING|ENST00000306176|exon_3_102157324_102157437 0/1:99:255,0,249 . 0/1:99:255,0,172 . 3 102181131 rs12054046 A G NON_SYNONYMOUS_CODING ZPLD1 MODERATE|MISSENSE|Acc/Gcc|T197A|415|ZPLD1|protein_coding|CODING|ENST00000466937|exon_3_102181125_102181222 0/1:99:255,0,236 . 0/1:99:195,0,255 . 3 102181131 rs12054046 A G NON_SYNONYMOUS_CODING ZPLD1 MODERATE|MISSENSE|Acc/Gcc|T197A|415|ZPLD1|protein_coding|CODING|ENST00000491959|exon_3_102181125_102181222 0/1:99:255,0,236 . 0/1:99:195,0,255 . 3 102181131 rs12054046 A G NON_SYNONYMOUS_CODING ZPLD1 MODERATE|MISSENSE|Acc/Gcc|T213A|431|ZPLD1|protein_coding|CODING|ENST00000306176|exon_3_102181125_102181222 0/1:99:255,0,236 . 0/1:99:195,0,255 . 3 107642594 rs190419229 T A NON_SYNONYMOUS_CODING RP11-631B21.2.1 MODERATE|MISSENSE|Tgc/Agc|C8S|142|RP11-631B21.2.1|protein_coding|CODING|ENST00000494231|exon_3_107642478_107642647 . . 0/1:99:233,0,255 . 3 107941135 rs114893980 C G NON_SYNONYMOUS_CODING IFT57 MODERATE|MISSENSE|gGt/gCt|G12A|156|IFT57|protein_coding|CODING|ENST00000492106|exon_3_107940865_107941222 . . 0/1:99:240,0,219 . 3 107941135 rs114893980 C G NON_SYNONYMOUS_CODING IFT57 MODERATE|MISSENSE|gGt/gCt|G12A|429|IFT57|protein_coding|CODING|ENST00000264538|exon_3_107940958_107941417 . . 0/1:99:240,0,219 . 3 108273272 rs13071874 T C NON_SYNONYMOUS_CODING KIAA1524 MODERATE|MISSENSE|Att/Gtt|I600V|746|KIAA1524|protein_coding|CODING|ENST00000491772|exon_3_108273223_108273336 . . 0/1:99:255,0,255 . 3 108273272 rs13071874 T C NON_SYNONYMOUS_CODING KIAA1524 MODERATE|MISSENSE|Att/Gtt|I759V|905|KIAA1524|protein_coding|CODING|ENST00000295746|exon_3_108273223_108273336 . . 0/1:99:255,0,255 . 3 108303989 rs34788499 C A NON_SYNONYMOUS_CODING KIAA1524 MODERATE|MISSENSE|tGc/tTc|C58F|905|KIAA1524|protein_coding|CODING|ENST00000295746|exon_3_108303912_108304059 . . 0/1:99:255,0,255 . 3 111313030 rs34321066 C T NON_SYNONYMOUS_CODING ZBED2 MODERATE|MISSENSE|Gag/Aag|E7K|218|ZBED2|protein_coding|CODING|ENST00000317012|exon_3_111311747_111313913 . 0/1:99:255,0,222 . . 3 112710048 rs150357969 C G NON_SYNONYMOUS_CODING GTPBP8 MODERATE|MISSENSE|Ctg/Gtg|L68V|251|GTPBP8|protein_coding|CODING|ENST00000383677|exon_3_112709832_112710182 . . 0/1:99:255,0,255 . 3 112710048 rs150357969 C G NON_SYNONYMOUS_CODING GTPBP8 MODERATE|MISSENSE|Ctg/Gtg|L68V|284|GTPBP8|protein_coding|CODING|ENST00000383678|exon_3_112709765_112710182 . . 0/1:99:255,0,255 . 3 112710048 rs150357969 C G NON_SYNONYMOUS_CODING GTPBP8 MODERATE|MISSENSE|Ctg/Gtg|L68V|307|GTPBP8|protein_coding|CODING|ENST00000305485|exon_3_112709832_112710197 . . 0/1:99:255,0,255 . 3 112935114 . TAGAAGAAG TAGAAG CODON_CHANGE_PLUS_CODON_DELETION BOC MODERATE||gaagtg/gtg|EV21V|64|BOC|protein_coding|CODING|ENST00000498710|exon_3_112935034_112935125 . . . 0/1:99:255,0,255 3 113003262 rs3814404 C T NON_SYNONYMOUS_CODING BOC MODERATE|MISSENSE|Cca/Tca|P912S|1114|BOC|protein_coding|CODING|ENST00000355385|exon_3_113003182_113003414 0/1:99:233,0,255 . . . 3 113003262 rs3814404 C T NON_SYNONYMOUS_CODING BOC MODERATE|MISSENSE|Cca/Tca|P912S|1114|BOC|protein_coding|CODING|ENST00000495514|exon_3_113003182_113003414 0/1:99:233,0,255 . . . 3 113003262 rs3814404 C T NON_SYNONYMOUS_CODING BOC MODERATE|MISSENSE|Cca/Tca|P913S|1115|BOC|protein_coding|CODING|ENST00000273395|exon_3_113003182_113003414 0/1:99:233,0,255 . . . 3 113098217 rs58988763 G A NON_SYNONYMOUS_CODING WDR52 MODERATE|MISSENSE|cCg/cTg|P745L|1854|WDR52|protein_coding|CODING|ENST00000393845|exon_3_113098153_113098398 0/1:99:255,0,251 . . . 3 113098217 rs58988763 G A NON_SYNONYMOUS_CODING WDR52 MODERATE|MISSENSE|cCg/cTg|P745L|982|WDR52|protein_coding|CODING|ENST00000295868|exon_3_113098153_113098398 0/1:99:255,0,251 . . . 3 113187675 rs16861032 G C NON_SYNONYMOUS_CODING SPICE1 MODERATE|MISSENSE|Cta/Gta|L275V|855|SPICE1|protein_coding|CODING|ENST00000295872|exon_3_113187609_113187746 0/1:99:255,0,202 . . . 3 113285276 rs2271496 G A NON_SYNONYMOUS_CODING SIDT1 MODERATE|MISSENSE|Gtg/Atg|V78M|827|SIDT1|protein_coding|CODING|ENST00000264852|exon_3_113285267_113285388 0/1:99:255,0,198 . . . 3 113285276 rs2271496 G A NON_SYNONYMOUS_CODING SIDT1 MODERATE|MISSENSE|Gtg/Atg|V78M|832|SIDT1|protein_coding|CODING|ENST00000393830|exon_3_113285267_113285388 0/1:99:255,0,198 . . . 3 113720517 rs6784095 T A NON_SYNONYMOUS_CODING KIAA1407 MODERATE|MISSENSE|gaA/gaT|E696D|936|KIAA1407|protein_coding|CODING|ENST00000295878|exon_3_113720442_113720543 0/1:99:241,0,255 0/1:99:255,0,228 . . 3 113890685 rs201882973 A G NON_SYNONYMOUS_CODING DRD3 MODERATE|MISSENSE|aTg/aCg|M52T|342|DRD3|protein_coding|CODING|ENST00000281274|exon_3_113890570_113890874 . . . 0/1:99:244,0,195 3 113890685 rs201882973 A G NON_SYNONYMOUS_CODING DRD3 MODERATE|MISSENSE|aTg/aCg|M52T|367|DRD3|protein_coding|CODING|ENST00000295881|exon_3_113890570_113890874 . . . 0/1:99:244,0,195 3 113890685 rs201882973 A G NON_SYNONYMOUS_CODING DRD3 MODERATE|MISSENSE|aTg/aCg|M52T|400|DRD3|protein_coding|CODING|ENST00000383673|exon_3_113890570_113890874 . . . 0/1:99:244,0,195 3 113890685 rs201882973 A G NON_SYNONYMOUS_CODING DRD3 MODERATE|MISSENSE|aTg/aCg|M52T|400|DRD3|protein_coding|CODING|ENST00000460779|exon_3_113890570_113890874 . . . 0/1:99:244,0,195 3 113890685 rs201882973 A G NON_SYNONYMOUS_CODING DRD3 MODERATE|MISSENSE|aTg/aCg|M52T|400|DRD3|protein_coding|CODING|ENST00000467632|exon_3_113890570_113890874 . . . 0/1:99:244,0,195 3 116163857 . C T NON_SYNONYMOUS_CODING LSAMP MODERATE|MISSENSE|Gat/Aat|D8N|338|LSAMP|protein_coding|CODING|ENST00000490035|exon_3_116163724_116164378 0/1:99:191,0,192 . . . 3 118945796 rs3764779 G C NON_SYNONYMOUS_CODING B4GALT4 MODERATE|MISSENSE|Cag/Gag|Q116E|117|B4GALT4|protein_coding|CODING|ENST00000479150|exon_3_118945786_118945888 . 0/1:99:211,0,255 . 0/1:99:222,0,255 3 118945796 rs3764779 G C NON_SYNONYMOUS_CODING B4GALT4 MODERATE|MISSENSE|Cag/Gag|Q116E|135|B4GALT4|protein_coding|CODING|ENST00000475803|exon_3_118945733_118945888 . 0/1:99:211,0,255 . 0/1:99:222,0,255 3 118945796 rs3764779 G C NON_SYNONYMOUS_CODING B4GALT4 MODERATE|MISSENSE|Cag/Gag|Q116E|301|B4GALT4|protein_coding|CODING|ENST00000467604|exon_3_118945656_118945888 . 0/1:99:211,0,255 . 0/1:99:222,0,255 3 118945796 rs3764779 G C NON_SYNONYMOUS_CODING B4GALT4 MODERATE|MISSENSE|Cag/Gag|Q116E|344|B4GALT4|protein_coding|CODING|ENST00000359213|exon_3_118945656_118945888 . 0/1:99:211,0,255 . 0/1:99:222,0,255 3 118945796 rs3764779 G C NON_SYNONYMOUS_CODING B4GALT4 MODERATE|MISSENSE|Cag/Gag|Q116E|344|B4GALT4|protein_coding|CODING|ENST00000393765|exon_3_118945656_118945888 . 0/1:99:211,0,255 . 0/1:99:222,0,255 3 118945796 rs3764779 G C NON_SYNONYMOUS_CODING B4GALT4 MODERATE|MISSENSE|Cag/Gag|Q116E|344|B4GALT4|protein_coding|CODING|ENST00000483209|exon_3_118945656_118945888 . 0/1:99:211,0,255 . 0/1:99:222,0,255 3 119150836 rs1132200 C T NON_SYNONYMOUS_CODING TMEM39A MODERATE|MISSENSE|Gca/Aca|A487T|488|TMEM39A|protein_coding|CODING|ENST00000319172|exon_3_119148347_119151061 . 0/1:99:245,0,255 0/1:99:255,0,255 . 3 119256020 rs2229098 G A NON_SYNONYMOUS_CODING CD80 MODERATE|MISSENSE|Cat/Tat|H222Y|256|CD80|protein_coding|CODING|ENST00000383669|exon_3_119255984_119256265 0/1:99:255,0,255 . . . 3 119256020 rs2229098 G A NON_SYNONYMOUS_CODING CD80 MODERATE|MISSENSE|Cat/Tat|H222Y|288|CD80|protein_coding|CODING|ENST00000264246|exon_3_119255984_119256265 0/1:99:255,0,255 . . . 3 119256020 rs2229098 G A NON_SYNONYMOUS_CODING CD80 MODERATE|MISSENSE|Cat/Tat|H222Y|288|CD80|protein_coding|CODING|ENST00000478182|exon_3_119255984_119256265 0/1:99:255,0,255 . . . 3 119256056 rs62264488 T C NON_SYNONYMOUS_CODING CD80 MODERATE|MISSENSE|Acc/Gcc|T210A|256|CD80|protein_coding|CODING|ENST00000383669|exon_3_119255984_119256265 . 0/1:99:255,0,255 . . 3 119256056 rs62264488 T C NON_SYNONYMOUS_CODING CD80 MODERATE|MISSENSE|Acc/Gcc|T210A|288|CD80|protein_coding|CODING|ENST00000264246|exon_3_119255984_119256265 . 0/1:99:255,0,255 . . 3 119256056 rs62264488 T C NON_SYNONYMOUS_CODING CD80 MODERATE|MISSENSE|Acc/Gcc|T210A|288|CD80|protein_coding|CODING|ENST00000478182|exon_3_119255984_119256265 . 0/1:99:255,0,255 . . 3 119886457 rs148653681 G A NON_SYNONYMOUS_CODING GPR156 MODERATE|MISSENSE|Cgg/Tgg|R619W|810|GPR156|protein_coding|CODING|ENST00000461057|exon_3_119885805_119887231 . 0/1:99:255,0,255 . . 3 119886457 rs148653681 G A NON_SYNONYMOUS_CODING GPR156 MODERATE|MISSENSE|Cgg/Tgg|R623W|814|GPR156|protein_coding|CODING|ENST00000315843|exon_3_119884328_119887231 . 0/1:99:255,0,255 . . 3 119886457 rs148653681 G A NON_SYNONYMOUS_CODING GPR156 MODERATE|MISSENSE|Cgg/Tgg|R623W|814|GPR156|protein_coding|CODING|ENST00000464295|exon_3_119884328_119887231 . 0/1:99:255,0,255 . . 3 121207637 rs3218642 G T NON_SYNONYMOUS_CODING POLQ MODERATE|MISSENSE|Cct/Act|P1004T|2213|POLQ|protein_coding|CODING|ENST00000543272|exon_3_121206149_121209255 . . 0/1:99:218,0,255 . 3 121207637 rs3218642 G T NON_SYNONYMOUS_CODING POLQ MODERATE|MISSENSE|Cct/Act|P1381T|2590|POLQ|protein_coding|CODING|ENST00000264233|exon_3_121206149_121209255 . . 0/1:99:218,0,255 . 3 121207637 rs3218642 G T NON_SYNONYMOUS_CODING POLQ MODERATE|MISSENSE|Cct/Act|P1517T|2726|POLQ|protein_coding|CODING|ENST00000393672|exon_3_121206149_121209255 . . 0/1:99:218,0,255 . 3 121230765 . ACTTCTTCT ACTTCT CODON_DELETION POLQ MODERATE||ggagaa/gga|GE147G|2213|POLQ|protein_coding|CODING|ENST00000543272|exon_3_121230734_121230876 0/1:99:255,0,255 . . . 3 121230765 . ACTTCTTCT ACTTCT CODON_DELETION POLQ MODERATE||ggagaa/gga|GE524G|2590|POLQ|protein_coding|CODING|ENST00000264233|exon_3_121230734_121230876 0/1:99:255,0,255 . . . 3 121230765 . ACTTCTTCT ACTTCT CODON_DELETION POLQ MODERATE||ggagaa/gga|GE660G|2726|POLQ|protein_coding|CODING|ENST00000393672|exon_3_121230734_121230873 0/1:99:255,0,255 . . . 3 121351257 rs77852202 C T NON_SYNONYMOUS_CODING HCLS1 MODERATE|MISSENSE|Gag/Aag|E351K|449|HCLS1|protein_coding|CODING|ENST00000428394|exon_3_121351179_121351410 . 0/1:99:220,0,184 . . 3 121351257 rs77852202 C T NON_SYNONYMOUS_CODING HCLS1 MODERATE|MISSENSE|Gag/Aag|E388K|486|HCLS1|protein_coding|CODING|ENST00000314583|exon_3_121351179_121351410 . 0/1:99:220,0,184 . . 3 121353154 . C T NON_SYNONYMOUS_CODING HCLS1 MODERATE|MISSENSE|cGa/cAa|R231Q|449|HCLS1|protein_coding|CODING|ENST00000428394|exon_3_121353054_121353265 . . 0/1:99:237,0,246 . 3 121353154 . C T NON_SYNONYMOUS_CODING HCLS1 MODERATE|MISSENSE|cGa/cAa|R268Q|486|HCLS1|protein_coding|CODING|ENST00000314583|exon_3_121353054_121353265 . . 0/1:99:237,0,246 . 3 121414217 rs35674179 C A NON_SYNONYMOUS_CODING GOLGB1 MODERATE|MISSENSE|tGt/tTt|C1713F|3259|GOLGB1|protein_coding|CODING|ENST00000340645|exon_3_121412588_121417776 0/1:99:255,0,255 . 0/1:99:209,0,255 . 3 121414217 rs35674179 C A NON_SYNONYMOUS_CODING GOLGB1 MODERATE|MISSENSE|tGt/tTt|C1718F|3269|GOLGB1|protein_coding|CODING|ENST00000393667|exon_3_121412588_121417776 0/1:99:255,0,255 . 0/1:99:209,0,255 . 3 121491530 rs140630401 C T NON_SYNONYMOUS_CODING IQCB1 MODERATE|MISSENSE|Gag/Aag|E348K|465|IQCB1|protein_coding|CODING|ENST00000349820|exon_3_121491404_121491560 . . . 0/1:99:223,0,219 3 121491530 rs140630401 C T NON_SYNONYMOUS_CODING IQCB1 MODERATE|MISSENSE|Gag/Aag|E481K|598|IQCB1|protein_coding|CODING|ENST00000310864|exon_3_121491404_121491560 . . . 0/1:99:223,0,219 3 121507231 rs1141528 A T NON_SYNONYMOUS_CODING IQCB1 MODERATE|MISSENSE|aTt/aAt|I260N|465|IQCB1|protein_coding|CODING|ENST00000349820|exon_3_121507131_121507279 . 1/1:99:255,78,0 . . 3 121507231 rs1141528 A T NON_SYNONYMOUS_CODING IQCB1 MODERATE|MISSENSE|aTt/aAt|I393N|598|IQCB1|protein_coding|CODING|ENST00000310864|exon_3_121507131_121507279 . 1/1:99:255,78,0 . . 3 122419292 rs7632072 A G NON_SYNONYMOUS_CODING PARP14 MODERATE|MISSENSE|Act/Gct|T550A|1720|PARP14|protein_coding|CODING|ENST00000398162|exon_3_122418237_122420482 . . . 0/1:99:255,0,223 3 122419292 rs7632072 A G NON_SYNONYMOUS_CODING PARP14 MODERATE|MISSENSE|Act/Gct|T631A|1801|PARP14|protein_coding|CODING|ENST00000474629|exon_3_122418237_122420482 . . . 0/1:99:255,0,223 3 122632436 rs2276781 A G NON_SYNONYMOUS_CODING SEMA5B MODERATE|MISSENSE|aTg/aCg|M684T|1057|SEMA5B|protein_coding|CODING|ENST00000418793|exon_3_122632381_122632528 . . . 0/1:99:159,0,120 3 122632436 rs2276781 A G NON_SYNONYMOUS_CODING SEMA5B MODERATE|MISSENSE|aTg/aCg|M742T|1087|SEMA5B|protein_coding|CODING|ENST00000393583|exon_3_122632381_122632528 . . . 0/1:99:159,0,120 3 122632436 rs2276781 A G NON_SYNONYMOUS_CODING SEMA5B MODERATE|MISSENSE|aTg/aCg|M742T|1092|SEMA5B|protein_coding|CODING|ENST00000195173|exon_3_122632384_122632528 . . . 0/1:99:159,0,120 3 122632436 rs2276781 A G NON_SYNONYMOUS_CODING SEMA5B MODERATE|MISSENSE|aTg/aCg|M742T|1151|SEMA5B|protein_coding|CODING|ENST00000357599|exon_3_122632381_122632528 . . . 0/1:99:159,0,120 3 122632436 rs2276781 A G NON_SYNONYMOUS_CODING SEMA5B MODERATE|MISSENSE|aTg/aCg|M796T|1205|SEMA5B|protein_coding|CODING|ENST00000451055|exon_3_122632381_122632528 . . . 0/1:99:159,0,120 3 122646828 rs2276774 A G NON_SYNONYMOUS_CODING SEMA5B MODERATE|MISSENSE|aTt/aCt|I162T|1057|SEMA5B|protein_coding|CODING|ENST00000418793|exon_3_122646637_122646850 . . . 1/1:99:255,78,0 3 122646828 rs2276774 A G NON_SYNONYMOUS_CODING SEMA5B MODERATE|MISSENSE|aTt/aCt|I220T|1087|SEMA5B|protein_coding|CODING|ENST00000393583|exon_3_122646637_122646850 . . . 1/1:99:255,78,0 3 122646828 rs2276774 A G NON_SYNONYMOUS_CODING SEMA5B MODERATE|MISSENSE|aTt/aCt|I220T|1092|SEMA5B|protein_coding|CODING|ENST00000195173|exon_3_122646637_122646850 . . . 1/1:99:255,78,0 3 122646828 rs2276774 A G NON_SYNONYMOUS_CODING SEMA5B MODERATE|MISSENSE|aTt/aCt|I220T|1151|SEMA5B|protein_coding|CODING|ENST00000357599|exon_3_122646637_122646850 . . . 1/1:99:255,78,0 3 122646828 rs2276774 A G NON_SYNONYMOUS_CODING SEMA5B MODERATE|MISSENSE|aTt/aCt|I274T|1205|SEMA5B|protein_coding|CODING|ENST00000451055|exon_3_122646637_122646850 . . . 1/1:99:255,78,0 3 122694930 rs9968193 C T NON_SYNONYMOUS_CODING SEMA5B MODERATE|MISSENSE|aGg/aAg|R14K|1205|SEMA5B|protein_coding|CODING|ENST00000451055|exon_3_122694847_122694981 0/1:99:255,0,225 . . . 3 123046510 rs61734561 C G NON_SYNONYMOUS_CODING ADCY5 MODERATE|MISSENSE|gaG/gaC|E193D|491|ADCY5|protein_coding|CODING|ENST00000466617|exon_3_123046465_123046606 . . 0/1:99:177,0,226 . 3 123046510 rs61734561 C G NON_SYNONYMOUS_CODING ADCY5 MODERATE|MISSENSE|gaG/gaC|E267D|919|ADCY5|protein_coding|CODING|ENST00000491190|exon_3_123046465_123046606 . . 0/1:99:177,0,226 . 3 123046510 rs61734561 C G NON_SYNONYMOUS_CODING ADCY5 MODERATE|MISSENSE|gaG/gaC|E284D|911|ADCY5|protein_coding|CODING|ENST00000309879|exon_3_123046465_123046606 . . 0/1:99:177,0,226 . 3 123046510 rs61734561 C G NON_SYNONYMOUS_CODING ADCY5 MODERATE|MISSENSE|gaG/gaC|E634D|1261|ADCY5|protein_coding|CODING|ENST00000462833|exon_3_123046465_123046606 . . 0/1:99:177,0,226 . 3 123419116 . GTTCTTCTT GTTCTT CODON_DELETION MYLK MODERATE||aaagaa/aaa|KE1064K|1863|MYLK|protein_coding|CODING|ENST00000359169|exon_3_123418867_123419852 0/1:99:255,0,255 . . . 3 123419116 . GTTCTTCTT GTTCTT CODON_DELETION MYLK MODERATE||aaagaa/aaa|KE1064K|1863|MYLK|protein_coding|CODING|ENST00000360772|exon_3_123418867_123419852 0/1:99:255,0,255 . . . 3 123419116 . GTTCTTCTT GTTCTT CODON_DELETION MYLK MODERATE||aaagaa/aaa|KE1064K|1914|MYLK|protein_coding|CODING|ENST00000360304|exon_3_123418867_123419852 0/1:99:255,0,255 . . . 3 123419116 . GTTCTTCTT GTTCTT CODON_DELETION MYLK MODERATE||aaagaa/aaa|KE1064K|1914|MYLK|protein_coding|CODING|ENST00000475616|exon_3_123418867_123419852 0/1:99:255,0,255 . . . 3 123419116 . GTTCTTCTT GTTCTT CODON_DELETION MYLK MODERATE||aaagaa/aaa|KE995K|1845|MYLK|protein_coding|CODING|ENST00000346322|exon_3_123418867_123419852 0/1:99:255,0,255 . . . 3 123453061 rs3796164 A G NON_SYNONYMOUS_CODING MYLK MODERATE|MISSENSE|gTg/gCg|V261A|1845|MYLK|protein_coding|CODING|ENST00000346322|exon_3_123452534_123453069 0/1:99:187,0,253 . . . 3 123453061 rs3796164 A G NON_SYNONYMOUS_CODING MYLK MODERATE|MISSENSE|gTg/gCg|V261A|1863|MYLK|protein_coding|CODING|ENST00000359169|exon_3_123452534_123453069 0/1:99:187,0,253 . . . 3 123453061 rs3796164 A G NON_SYNONYMOUS_CODING MYLK MODERATE|MISSENSE|gTg/gCg|V261A|1863|MYLK|protein_coding|CODING|ENST00000360772|exon_3_123452534_123453069 0/1:99:187,0,253 . . . 3 123453061 rs3796164 A G NON_SYNONYMOUS_CODING MYLK MODERATE|MISSENSE|gTg/gCg|V261A|1914|MYLK|protein_coding|CODING|ENST00000360304|exon_3_123452534_123453069 0/1:99:187,0,253 . . . 3 123453061 rs3796164 A G NON_SYNONYMOUS_CODING MYLK MODERATE|MISSENSE|gTg/gCg|V261A|1914|MYLK|protein_coding|CODING|ENST00000475616|exon_3_123452534_123453069 0/1:99:187,0,253 . . . 3 124515498 rs2291087 T C NON_SYNONYMOUS_CODING ITGB5 MODERATE|MISSENSE|aAc/aGc|N477S|799|ITGB5|protein_coding|CODING|ENST00000296181|exon_3_124515235_124515664 . . 0/1:99:196,0,206 . 3 124515646 rs2291090 A C NON_SYNONYMOUS_CODING ITGB5 MODERATE|MISSENSE|Ttg/Gtg|L428V|799|ITGB5|protein_coding|CODING|ENST00000296181|exon_3_124515235_124515664 . . 0/1:99:255,0,218 . 3 124578257 rs199800023 C T NON_SYNONYMOUS_CODING ITGB5 MODERATE|MISSENSE|Gat/Aat|D65N|799|ITGB5|protein_coding|CODING|ENST00000296181|exon_3_124578089_124578293 0/1:99:254,0,255 . . . 3 124632412 rs144481864 C T NON_SYNONYMOUS_CODING MUC13 MODERATE|MISSENSE|Gtt/Att|V360I|511|MUC13|protein_coding|CODING|ENST00000311075|exon_3_124632409_124632528 0/1:99:255,0,218 . . . 3 124646837 rs4679394 G A NON_SYNONYMOUS_CODING MUC13 MODERATE|MISSENSE|gCc/gTc|A18V|511|MUC13|protein_coding|CODING|ENST00000311075|exon_3_124646379_124646837 . 0/1:99:255,0,241 . . 3 125695947 rs143954222 G A NON_SYNONYMOUS_CODING ROPN1B MODERATE|MISSENSE|cGc/cAc|R112H|129|ROPN1B|protein_coding|CODING|ENST00000513830|exon_3_125695847_125696003 . . 0/1:91:88,0,137 . 3 125695947 rs143954222 G A NON_SYNONYMOUS_CODING ROPN1B MODERATE|MISSENSE|cGc/cAc|R112H|212|ROPN1B|protein_coding|CODING|ENST00000251776|exon_3_125695847_125696008 . . 0/1:91:88,0,137 . 3 125695947 rs143954222 G A NON_SYNONYMOUS_CODING ROPN1B MODERATE|MISSENSE|cGc/cAc|R112H|212|ROPN1B|protein_coding|CODING|ENST00000514116|exon_3_125695847_125696008 . . 0/1:91:88,0,137 . 3 125695947 rs143954222 G A NON_SYNONYMOUS_CODING ROPN1B MODERATE|MISSENSE|cGc/cAc|R20H|120|ROPN1B|protein_coding|CODING|ENST00000505382|exon_3_125695847_125696008 . . 0/1:91:88,0,137 . 3 125695947 rs143954222 G A NON_SYNONYMOUS_CODING ROPN1B MODERATE|MISSENSE|cGc/cAc|R20H|120|ROPN1B|protein_coding|CODING|ENST00000511082|exon_3_125695661_125696008 . . 0/1:91:88,0,137 . 3 125872384 rs3796191 A G NON_SYNONYMOUS_CODING ALDH1L1 MODERATE|MISSENSE|cTg/cCg|L153P|801|ALDH1L1|protein_coding|CODING|ENST00000452905|exon_3_125872287_125872424 . . 0/1:95:92,0,255 0/1:99:195,0,250 3 125872384 rs3796191 A G NON_SYNONYMOUS_CODING ALDH1L1 MODERATE|MISSENSE|cTg/cCg|L254P|505|ALDH1L1|protein_coding|CODING|ENST00000393431|exon_3_125872287_125872424 . . 0/1:95:92,0,255 0/1:99:195,0,250 3 125872384 rs3796191 A G NON_SYNONYMOUS_CODING ALDH1L1 MODERATE|MISSENSE|cTg/cCg|L254P|902|ALDH1L1|protein_coding|CODING|ENST00000393434|exon_3_125872287_125872424 . . 0/1:95:92,0,255 0/1:99:195,0,250 3 125872384 rs3796191 A G NON_SYNONYMOUS_CODING ALDH1L1 MODERATE|MISSENSE|cTg/cCg|L254P|902|ALDH1L1|protein_coding|CODING|ENST00000472186|exon_3_125872287_125872424 . . 0/1:95:92,0,255 0/1:99:195,0,250 3 125872384 rs3796191 A G NON_SYNONYMOUS_CODING ALDH1L1 MODERATE|MISSENSE|cTg/cCg|L264P|912|ALDH1L1|protein_coding|CODING|ENST00000273450|exon_3_125872287_125872424 . . 0/1:95:92,0,255 0/1:99:195,0,250 3 125872384 rs3796191 A G NON_SYNONYMOUS_CODING ALDH1L1 MODERATE|MISSENSE|cTg/cCg|L79P|160|ALDH1L1|protein_coding|CODING|ENST00000455064|exon_3_125872034_125872424 . . 0/1:95:92,0,255 0/1:99:195,0,250 3 126137547 rs139162708 G A NON_SYNONYMOUS_CODING CCDC37 MODERATE|MISSENSE|Gag/Aag|E194K|611|CCDC37|protein_coding|CODING|ENST00000352312|exon_3_126137454_126137617 . 0/1:99:112,0,195 . . 3 126137547 rs139162708 G A NON_SYNONYMOUS_CODING CCDC37 MODERATE|MISSENSE|Gag/Aag|E195K|612|CCDC37|protein_coding|CODING|ENST00000393425|exon_3_126137454_126137617 . 0/1:99:112,0,195 . . 3 126137547 rs139162708 G A NON_SYNONYMOUS_CODING CCDC37 MODERATE|MISSENSE|Gag/Aag|E195K|612|CCDC37|protein_coding|CODING|ENST00000505024|exon_3_126137454_126137617 . 0/1:99:112,0,195 . . 3 126291298 rs73195848 C A NON_SYNONYMOUS_CODING TXNRD3NB MODERATE|MISSENSE|aGt/aTt|S30I|133|TXNRD3NB|protein_coding|CODING|ENST00000383572|exon_3_126290999_126291485 0/1:99:255,0,190 . . . 3 126291298 rs73195848 C A NON_SYNONYMOUS_CODING TXNRD3NB MODERATE|MISSENSE|aGt/aTt|S30I|133|TXNRD3NB|protein_coding|CODING|ENST00000404489|exon_3_126290999_126291479 0/1:99:255,0,190 . . . 3 126329885 . C T NON_SYNONYMOUS_CODING TXNRD3 MODERATE|MISSENSE|Gac/Aac|D576N|644|TXNRD3|protein_coding|CODING|ENST00000523403|exon_3_126329880_126329975 0/1:99:255,0,255 . . . 3 126329885 . C T NON_SYNONYMOUS_CODING TXNRD3 MODERATE|MISSENSE|Gac/Aac|D630N|698|TXNRD3|protein_coding|CODING|ENST00000524230|exon_3_126329880_126329975 0/1:99:255,0,255 . . . 3 126363199 rs114444531 C G NON_SYNONYMOUS_CODING TXNRD3 MODERATE|MISSENSE|Gca/Cca|A191P|644|TXNRD3|protein_coding|CODING|ENST00000523403|exon_3_126363140_126363244 . 0/1:99:255,0,255 . . 3 126363199 rs114444531 C G NON_SYNONYMOUS_CODING TXNRD3 MODERATE|MISSENSE|Gca/Cca|A209P|698|TXNRD3|protein_coding|CODING|ENST00000524230|exon_3_126363140_126363244 . 0/1:99:255,0,255 . . 3 126373991 rs191955309 C G NON_SYNONYMOUS_CODING TXNRD3 MODERATE|MISSENSE|gGg/gCg|G3A|698|TXNRD3|protein_coding|CODING|ENST00000524230|exon_3_126373591_126373998 0/1:79:105,0,76 . . . 3 128292517 rs150531956 G A NON_SYNONYMOUS_CODING C3orf27 MODERATE|MISSENSE|aCg/aTg|T19M|149|C3orf27|protein_coding|CODING|ENST00000356020|exon_3_128290843_128293146 . . . 0/1:99:175,0,161 3 128664388 rs188359434 T C NON_SYNONYMOUS_CODING RP11-723O4.6.1 MODERATE|MISSENSE|cAc/cGc|H141R|572|RP11-723O4.6.1|protein_coding|CODING|ENST00000344062|exon_3_128663914_128664818 0/1:99:197,0,242 . . . 3 128664388 rs188359434 T C NON_SYNONYMOUS_CODING RP11-723O4.6.1 MODERATE|MISSENSE|cAc/cGc|H141R|572|RP11-723O4.6.1|protein_coding|CODING|ENST00000508239|exon_3_128663914_128664818 0/1:99:197,0,242 . . . 3 128976451 rs62266876 C G NON_SYNONYMOUS_CODING COPG MODERATE|MISSENSE|Ctg/Gtg|L240V|874|COPG|protein_coding|CODING|ENST00000314797|exon_3_128976313_128976470 . . 0/1:99:254,0,255 0/1:99:243,0,162 3 129130018 rs73202271 G A NON_SYNONYMOUS_CODING C3orf25 MODERATE|MISSENSE|Cgg/Tgg|R340W|572|C3orf25|protein_coding|CODING|ENST00000326085|exon_3_129130001_129130197 . 0/1:99:245,0,204 . 0/1:75:244,0,72 3 129130018 rs73202271 G A NON_SYNONYMOUS_CODING C3orf25 MODERATE|MISSENSE|Cgg/Tgg|R340W|572|C3orf25|protein_coding|CODING|ENST00000505956|exon_3_129130001_129130197 . 0/1:99:245,0,204 . 0/1:75:244,0,72 3 129130197 rs9836111 T C NON_SYNONYMOUS_CODING C3orf25 MODERATE|MISSENSE|cAt/cGt|H130R|157|C3orf25|protein_coding|CODING|ENST00000503957|exon_3_129130110_129130197 0/1:99:255,0,255 . . . 3 129130197 rs9836111 T C NON_SYNONYMOUS_CODING C3orf25 MODERATE|MISSENSE|cAt/cGt|H280R|572|C3orf25|protein_coding|CODING|ENST00000326085|exon_3_129130001_129130197 0/1:99:255,0,255 . . . 3 129130197 rs9836111 T C NON_SYNONYMOUS_CODING C3orf25 MODERATE|MISSENSE|cAt/cGt|H280R|572|C3orf25|protein_coding|CODING|ENST00000505956|exon_3_129130001_129130197 0/1:99:255,0,255 . . . 3 129140499 rs3774787 T C NON_SYNONYMOUS_CODING C3orf25 MODERATE|MISSENSE|gAg/gGg|E66G|572|C3orf25|protein_coding|CODING|ENST00000326085|exon_3_129140210_129140646 0/1:99:255,0,255 . . . 3 129140499 rs3774787 T C NON_SYNONYMOUS_CODING C3orf25 MODERATE|MISSENSE|gAg/gGg|E66G|572|C3orf25|protein_coding|CODING|ENST00000505956|exon_3_129140210_129140646 0/1:99:255,0,255 . . . 3 129155451 rs140693 C T NON_SYNONYMOUS_CODING MBD4 MODERATE|MISSENSE|Gag/Aag|E346K|540|MBD4|protein_coding|CODING|ENST00000503197|exon_3_129155286_129156151 0/1:99:255,0,251 . . . 3 129155451 rs140693 C T NON_SYNONYMOUS_CODING MBD4 MODERATE|MISSENSE|Gag/Aag|E346K|572|MBD4|protein_coding|CODING|ENST00000507208|exon_3_129155286_129156151 0/1:99:255,0,251 . . . 3 129155451 rs140693 C T NON_SYNONYMOUS_CODING MBD4 MODERATE|MISSENSE|Gag/Aag|E346K|574|MBD4|protein_coding|CODING|ENST00000429544|exon_3_129155304_129156151 0/1:99:255,0,251 . . . 3 129155451 rs140693 C T NON_SYNONYMOUS_CODING MBD4 MODERATE|MISSENSE|Gag/Aag|E346K|580|MBD4|protein_coding|CODING|ENST00000249910|exon_3_129155286_129156151 0/1:99:255,0,251 . . . 3 129155670 rs10342 C T NON_SYNONYMOUS_CODING MBD4 MODERATE|MISSENSE|Gct/Act|A273T|540|MBD4|protein_coding|CODING|ENST00000503197|exon_3_129155286_129156151 . 0/1:99:255,0,255 . 0/1:99:255,0,255 3 129155670 rs10342 C T NON_SYNONYMOUS_CODING MBD4 MODERATE|MISSENSE|Gct/Act|A273T|572|MBD4|protein_coding|CODING|ENST00000507208|exon_3_129155286_129156151 . 0/1:99:255,0,255 . 0/1:99:255,0,255 3 129155670 rs10342 C T NON_SYNONYMOUS_CODING MBD4 MODERATE|MISSENSE|Gct/Act|A273T|574|MBD4|protein_coding|CODING|ENST00000429544|exon_3_129155304_129156151 . 0/1:99:255,0,255 . 0/1:99:255,0,255 3 129155670 rs10342 C T NON_SYNONYMOUS_CODING MBD4 MODERATE|MISSENSE|Gct/Act|A273T|580|MBD4|protein_coding|CODING|ENST00000249910|exon_3_129155286_129156151 . 0/1:99:255,0,255 . 0/1:99:255,0,255 3 129214302 rs111401191 G A NON_SYNONYMOUS_CODING IFT122 MODERATE|MISSENSE|cGg/cAg|R184Q|379|IFT122|protein_coding|CODING|ENST00000509522|exon_3_129214289_129214450 . 0/1:99:213,0,255 . 0/1:99:229,0,241 3 129214302 rs111401191 G A NON_SYNONYMOUS_CODING IFT122 MODERATE|MISSENSE|cGg/cAg|R478Q|1032|IFT122|protein_coding|CODING|ENST00000440957|exon_3_129214289_129214450 . 0/1:99:213,0,255 . 0/1:99:229,0,241 3 129214302 rs111401191 G A NON_SYNONYMOUS_CODING IFT122 MODERATE|MISSENSE|cGg/cAg|R49Q|170|IFT122|protein_coding|CODING|ENST00000507221|exon_3_129214289_129214450 . 0/1:99:213,0,255 . 0/1:99:229,0,241 3 129214302 rs111401191 G A NON_SYNONYMOUS_CODING IFT122 MODERATE|MISSENSE|cGg/cAg|R527Q|1083|IFT122|protein_coding|CODING|ENST00000446384|exon_3_129214289_129214450 . 0/1:99:213,0,255 . 0/1:99:229,0,241 3 129214302 rs111401191 G A NON_SYNONYMOUS_CODING IFT122 MODERATE|MISSENSE|cGg/cAg|R537Q|1091|IFT122|protein_coding|CODING|ENST00000431818|exon_3_129214289_129214450 . 0/1:99:213,0,255 . 0/1:99:229,0,241 3 129214302 rs111401191 G A NON_SYNONYMOUS_CODING IFT122 MODERATE|MISSENSE|cGg/cAg|R563Q|1118|IFT122|protein_coding|CODING|ENST00000504021|exon_3_129214289_129214450 . 0/1:99:213,0,255 . 0/1:99:229,0,241 3 129214302 rs111401191 G A NON_SYNONYMOUS_CODING IFT122 MODERATE|MISSENSE|cGg/cAg|R576Q|1131|IFT122|protein_coding|CODING|ENST00000349441|exon_3_129214289_129214450 . 0/1:99:213,0,255 . 0/1:99:229,0,241 3 129214302 rs111401191 G A NON_SYNONYMOUS_CODING IFT122 MODERATE|MISSENSE|cGg/cAg|R628Q|1182|IFT122|protein_coding|CODING|ENST00000347300|exon_3_129214289_129214450 . 0/1:99:213,0,255 . 0/1:99:229,0,241 3 129214302 rs111401191 G A NON_SYNONYMOUS_CODING IFT122 MODERATE|MISSENSE|cGg/cAg|R628Q|961|IFT122|protein_coding|CODING|ENST00000454840|exon_3_129214289_129214450 . 0/1:99:213,0,255 . 0/1:99:229,0,241 3 129214302 rs111401191 G A NON_SYNONYMOUS_CODING IFT122 MODERATE|MISSENSE|cGg/cAg|R679Q|1234|IFT122|protein_coding|CODING|ENST00000507564|exon_3_129214289_129214450 . 0/1:99:213,0,255 . 0/1:99:229,0,241 3 129214302 rs111401191 G A NON_SYNONYMOUS_CODING IFT122 MODERATE|MISSENSE|cGg/cAg|R687Q|1241|IFT122|protein_coding|CODING|ENST00000348417|exon_3_129214289_129214450 . 0/1:99:213,0,255 . 0/1:99:229,0,241 3 129214302 rs111401191 G A NON_SYNONYMOUS_CODING IFT122 MODERATE|MISSENSE|cGg/cAg|R738Q|1292|IFT122|protein_coding|CODING|ENST00000296266|exon_3_129214289_129214450 . 0/1:99:213,0,255 . 0/1:99:229,0,241 3 129289978 rs144843366 G A NON_SYNONYMOUS_CODING PLXND1 MODERATE|MISSENSE|Cgc/Tgc|R1169C|1785|PLXND1|protein_coding|CODING|ENST00000393239|exon_3_129289883_129290146 . . . 0/1:99:214,0,138 3 129289978 rs144843366 G A NON_SYNONYMOUS_CODING PLXND1 MODERATE|MISSENSE|Cgc/Tgc|R1169C|1925|PLXND1|protein_coding|CODING|ENST00000324093|exon_3_129289883_129290146 . . . 0/1:99:214,0,138 3 130129322 rs35886424 G C NON_SYNONYMOUS_CODING COL6A5 MODERATE|MISSENSE|aGt/aCt|S1539T|2526|COL6A5|protein_coding|CODING|ENST00000432398|exon_3_130129315_130129368 . 1/1:99:255,105,0 0/1:99:202,0,255 . 3 130129322 rs35886424 G C NON_SYNONYMOUS_CODING COL6A5 MODERATE|MISSENSE|aGt/aCt|S1539T|2615|COL6A5|protein_coding|CODING|ENST00000265379|exon_3_130129315_130129368 . 1/1:99:255,105,0 0/1:99:202,0,255 . 3 130284099 . C A NON_SYNONYMOUS_CODING COL6A6 MODERATE|MISSENSE|aCt/aAt|T308N|2263|COL6A6|protein_coding|CODING|ENST00000358511|exon_3_130283838_130284458 . . . 0/1:99:255,0,255 3 130284099 . C A NON_SYNONYMOUS_CODING COL6A6 MODERATE|MISSENSE|aCt/aAt|T308N|2263|COL6A6|protein_coding|CODING|ENST00000453409|exon_3_130283838_130284458 . . . 0/1:99:255,0,255 3 132221139 rs55825559 C T NON_SYNONYMOUS_CODING DNAJC13 MODERATE|MISSENSE|Ccc/Tcc|P1515S|2243|DNAJC13|protein_coding|CODING|ENST00000260818|exon_3_132221133_132221312 0/1:99:255,0,255 . . . 3 132221139 rs55825559 C T NON_SYNONYMOUS_CODING DNAJC13 MODERATE|MISSENSE|Ccc/Tcc|P162S|890|DNAJC13|protein_coding|CODING|ENST00000538066|exon_3_132221133_132221312 0/1:99:255,0,255 . . . 3 132319836 . T G NON_SYNONYMOUS_CODING CCRL1 MODERATE|MISSENSE|Ttg/Gtg|L199V|274|CCRL1|protein_coding|CODING|ENST00000424114|exon_3_132319233_132320007 . . 0/1:99:136,0,150 . 3 132319836 . T G NON_SYNONYMOUS_CODING CCRL1 MODERATE|MISSENSE|Ttg/Gtg|L199V|350|CCRL1|protein_coding|CODING|ENST00000249887|exon_3_132319233_132321059 . . 0/1:99:136,0,150 . 3 132338346 rs41272321 T G NON_SYNONYMOUS_CODING ACAD11 MODERATE|MISSENSE|aAg/aCg|K414T|476|ACAD11|protein_coding|CODING|ENST00000481970|exon_3_132338312_132338389 0/1:99:255,0,255 . . . 3 132338346 rs41272321 T G NON_SYNONYMOUS_CODING ACAD11 MODERATE|MISSENSE|aAg/aCg|K414T|676|ACAD11|protein_coding|CODING|ENST00000355458|exon_3_132338312_132338389 0/1:99:255,0,255 . . . 3 132338346 rs41272321 T G NON_SYNONYMOUS_CODING ACAD11 MODERATE|MISSENSE|aAg/aCg|K414T|780|ACAD11|protein_coding|CODING|ENST00000264990|exon_3_132338312_132338389 0/1:99:255,0,255 . . . 3 133098806 rs34111099 C T NON_SYNONYMOUS_CODING TMEM108 MODERATE|MISSENSE|cCg/cTg|P35L|120|TMEM108|protein_coding|CODING|ENST00000512662|exon_3_133098596_133099067 . . 0/1:99:206,0,104 . 3 133098806 rs34111099 C T NON_SYNONYMOUS_CODING TMEM108 MODERATE|MISSENSE|cCg/cTg|P35L|88|TMEM108|protein_coding|CODING|ENST00000514894|exon_3_133098596_133098970 . . 0/1:99:206,0,104 . 3 133098806 rs34111099 C T NON_SYNONYMOUS_CODING TMEM108 MODERATE|MISSENSE|cCg/cTg|P84L|147|TMEM108|protein_coding|CODING|ENST00000512137|exon_3_133098596_133099001 . . 0/1:99:206,0,104 . 3 133098806 rs34111099 C T NON_SYNONYMOUS_CODING TMEM108 MODERATE|MISSENSE|cCg/cTg|P84L|152|TMEM108|protein_coding|CODING|ENST00000510183|exon_3_133098596_133099015 . . 0/1:99:206,0,104 . 3 133098806 rs34111099 C T NON_SYNONYMOUS_CODING TMEM108 MODERATE|MISSENSE|cCg/cTg|P84L|488|TMEM108|protein_coding|CODING|ENST00000515826|exon_3_133098596_133100005 . . 0/1:99:206,0,104 . 3 133098806 rs34111099 C T NON_SYNONYMOUS_CODING TMEM108 MODERATE|MISSENSE|cCg/cTg|P84L|575|TMEM108|protein_coding|CODING|ENST00000321871|exon_3_133098596_133100005 . . 0/1:99:206,0,104 . 3 133098806 rs34111099 C T NON_SYNONYMOUS_CODING TMEM108 MODERATE|MISSENSE|cCg/cTg|P84L|575|TMEM108|protein_coding|CODING|ENST00000393130|exon_3_133098596_133100005 . . 0/1:99:206,0,104 . 3 133341988 rs10935070 T C NON_SYNONYMOUS_CODING TOPBP1 MODERATE|MISSENSE|aAt/aGt|N1042S|1522|TOPBP1|protein_coding|CODING|ENST00000260810|exon_3_133341935_133342037 . 0/1:99:255,0,238 . 0/1:99:255,0,255 3 133347520 . T A NON_SYNONYMOUS_CODING TOPBP1 MODERATE|MISSENSE|Agt/Tgt|S860C|1522|TOPBP1|protein_coding|CODING|ENST00000260810|exon_3_133347404_133347577 . 0/1:99:255,0,119 . . 3 133356790 rs17301766 G A NON_SYNONYMOUS_CODING TOPBP1 MODERATE|MISSENSE|tCg/tTg|S817L|1522|TOPBP1|protein_coding|CODING|ENST00000260810|exon_3_133356720_133357006 0/1:99:209,0,255 0/1:99:255,0,228 . . 3 133647212 rs77299600 G C NON_SYNONYMOUS_CODING C3orf36 MODERATE|MISSENSE|Cca/Gca|P146A|165|C3orf36|protein_coding|CODING|ENST00000408895|exon_3_133646992_133648656 . . . 0/1:99:225,0,185 3 135720405 . G A NON_SYNONYMOUS_CODING PPP2R3A MODERATE|MISSENSE|cGg/cAg|R22Q|1150|PPP2R3A|protein_coding|CODING|ENST00000264977|exon_3_135719901_135722335 0/1:99:255,0,255 . . . 3 135720663 rs36020282 A G NON_SYNONYMOUS_CODING PPP2R3A MODERATE|MISSENSE|aAc/aGc|N108S|1150|PPP2R3A|protein_coding|CODING|ENST00000264977|exon_3_135719901_135722335 0/1:99:255,0,188 . . . 3 136045213 rs17265675 G A NON_SYNONYMOUS_CODING PCCB MODERATE|MISSENSE|cGt/cAt|R379H|559|PCCB|protein_coding|CODING|ENST00000466072|exon_3_136045168_136045227 . . 0/1:99:255,0,255 . 3 136664737 rs13320485 C T NON_SYNONYMOUS_CODING NCK1 MODERATE|MISSENSE|gCa/gTa|A116V|313|NCK1|protein_coding|CODING|ENST00000469404|exon_3_136664425_136665137 . 0/1:99:218,0,254 . . 3 136664737 rs13320485 C T NON_SYNONYMOUS_CODING NCK1 MODERATE|MISSENSE|gCa/gTa|A180V|377|NCK1|protein_coding|CODING|ENST00000288986|exon_3_136664425_136665137 . 0/1:99:218,0,254 . . 3 136664737 rs13320485 C T NON_SYNONYMOUS_CODING NCK1 MODERATE|MISSENSE|gCa/gTa|A180V|377|NCK1|protein_coding|CODING|ENST00000481752|exon_3_136664425_136665137 . 0/1:99:218,0,254 . . 3 138347957 rs641320 G A NON_SYNONYMOUS_CODING FAIM MODERATE|MISSENSE|Gct/Act|A117T|127|FAIM|protein_coding|CODING|ENST00000479848|exon_3_138347949_138347993 . 0/1:99:255,0,218 . . 3 138347957 rs641320 G A NON_SYNONYMOUS_CODING FAIM MODERATE|MISSENSE|Gct/Act|A117T|179|FAIM|protein_coding|CODING|ENST00000393034|exon_3_138347949_138347998 . 0/1:99:255,0,218 . . 3 138347957 rs641320 G A NON_SYNONYMOUS_CODING FAIM MODERATE|MISSENSE|Gct/Act|A117T|179|FAIM|protein_coding|CODING|ENST00000393035|exon_3_138347949_138347998 . 0/1:99:255,0,218 . . 3 138347957 rs641320 G A NON_SYNONYMOUS_CODING FAIM MODERATE|MISSENSE|Gct/Act|A117T|179|FAIM|protein_coding|CODING|ENST00000464668|exon_3_138347949_138347998 . 0/1:99:255,0,218 . . 3 138347957 rs641320 G A NON_SYNONYMOUS_CODING FAIM MODERATE|MISSENSE|Gct/Act|A139T|201|FAIM|protein_coding|CODING|ENST00000360570|exon_3_138347949_138347998 . 0/1:99:255,0,218 . . 3 138347957 rs641320 G A NON_SYNONYMOUS_CODING FAIM MODERATE|MISSENSE|Gct/Act|A151T|213|FAIM|protein_coding|CODING|ENST00000338446|exon_3_138347949_138347998 . 0/1:99:255,0,218 . . 3 138351857 rs200351586 G A NON_SYNONYMOUS_CODING FAIM MODERATE|MISSENSE|cGg/cAg|R159Q|179|FAIM|protein_coding|CODING|ENST00000393034|exon_3_138351772_138352211 . 0/1:99:255,0,255 . . 3 138351857 rs200351586 G A NON_SYNONYMOUS_CODING FAIM MODERATE|MISSENSE|cGg/cAg|R159Q|179|FAIM|protein_coding|CODING|ENST00000393035|exon_3_138351772_138352218 . 0/1:99:255,0,255 . . 3 138351857 rs200351586 G A NON_SYNONYMOUS_CODING FAIM MODERATE|MISSENSE|cGg/cAg|R159Q|179|FAIM|protein_coding|CODING|ENST00000464668|exon_3_138351772_138351945 . 0/1:99:255,0,255 . . 3 138351857 rs200351586 G A NON_SYNONYMOUS_CODING FAIM MODERATE|MISSENSE|cGg/cAg|R181Q|201|FAIM|protein_coding|CODING|ENST00000360570|exon_3_138351772_138352218 . 0/1:99:255,0,255 . . 3 138351857 rs200351586 G A NON_SYNONYMOUS_CODING FAIM MODERATE|MISSENSE|cGg/cAg|R193Q|213|FAIM|protein_coding|CODING|ENST00000338446|exon_3_138351772_138352218 . 0/1:99:255,0,255 . . 3 140178381 rs17348572 T C NON_SYNONYMOUS_CODING CLSTN2 MODERATE|MISSENSE|aTt/aCt|I331T|955|CLSTN2|protein_coding|CODING|ENST00000458420|exon_3_140178363_140178611 . . . 0/1:99:174,0,168 3 141162128 rs62282002 C G NON_SYNONYMOUS_CODING ZBTB38 MODERATE|MISSENSE|Cca/Gca|P300A|1195|ZBTB38|protein_coding|CODING|ENST00000441582|exon_3_141161231_141164842 0/1:99:255,0,223 0/1:99:255,0,201 . . 3 141162128 rs62282002 C G NON_SYNONYMOUS_CODING ZBTB38 MODERATE|MISSENSE|Cca/Gca|P300A|1195|ZBTB38|protein_coding|CODING|ENST00000514251|exon_3_141161231_141168634 0/1:99:255,0,223 0/1:99:255,0,201 . . 3 141162128 rs62282002 C G NON_SYNONYMOUS_CODING ZBTB38 MODERATE|MISSENSE|Cca/Gca|P300A|770|ZBTB38|protein_coding|CODING|ENST00000509883|exon_3_141161231_141163543 0/1:99:255,0,223 0/1:99:255,0,201 . . 3 141162128 rs62282002 C G NON_SYNONYMOUS_CODING ZBTB38 MODERATE|MISSENSE|Cca/Gca|P301A|1196|ZBTB38|protein_coding|CODING|ENST00000321464|exon_3_141161231_141164830 0/1:99:255,0,223 0/1:99:255,0,201 . . 3 141164068 . G T NON_SYNONYMOUS_CODING ZBTB38 MODERATE|MISSENSE|agG/agT|R946S|1195|ZBTB38|protein_coding|CODING|ENST00000441582|exon_3_141161231_141164842 . 0/1:99:234,0,178 . . 3 141164068 . G T NON_SYNONYMOUS_CODING ZBTB38 MODERATE|MISSENSE|agG/agT|R946S|1195|ZBTB38|protein_coding|CODING|ENST00000514251|exon_3_141161231_141168634 . 0/1:99:234,0,178 . . 3 141164068 . G T NON_SYNONYMOUS_CODING ZBTB38 MODERATE|MISSENSE|agG/agT|R947S|1196|ZBTB38|protein_coding|CODING|ENST00000321464|exon_3_141161231_141164830 . 0/1:99:234,0,178 . . 3 141497469 rs34769632 A T NON_SYNONYMOUS_CODING GRK7 MODERATE|MISSENSE|Agt/Tgt|S115C|553|GRK7|protein_coding|CODING|ENST00000264952|exon_3_141496990_141497738 0/1:99:155,0,213 . . . 3 141497506 rs35318124 G C NON_SYNONYMOUS_CODING GRK7 MODERATE|MISSENSE|aGc/aCc|S127T|553|GRK7|protein_coding|CODING|ENST00000264952|exon_3_141496990_141497738 . . . 0/1:99:163,0,202 3 141526748 . C T NON_SYNONYMOUS_CODING GRK7 MODERATE|MISSENSE|Cgc/Tgc|R438C|553|GRK7|protein_coding|CODING|ENST00000264952|exon_3_141526487_141526761 0/1:99:255,0,255 . . . 3 142078759 rs73238159 C T NON_SYNONYMOUS_CODING XRN1 MODERATE|MISSENSE|Gat/Aat|D1137N|1694|XRN1|protein_coding|CODING|ENST00000392981|exon_3_142078704_142078773 . 0/1:99:255,0,255 . . 3 142078759 rs73238159 C T NON_SYNONYMOUS_CODING XRN1 MODERATE|MISSENSE|Gat/Aat|D1137N|1706|XRN1|protein_coding|CODING|ENST00000264951|exon_3_142078704_142078773 . 0/1:99:255,0,255 . . 3 142178144 rs2229032 C T NON_SYNONYMOUS_CODING ATR MODERATE|MISSENSE|cGa/cAa|R2361Q|2580|ATR|protein_coding|CODING|ENST00000383101|exon_3_142178069_142178225 0/1:99:255,0,255 0/1:99:255,0,255 0/1:99:255,0,255 . 3 142178144 rs2229032 C T NON_SYNONYMOUS_CODING ATR MODERATE|MISSENSE|cGa/cAa|R2425Q|2644|ATR|protein_coding|CODING|ENST00000350721|exon_3_142178069_142178225 0/1:99:255,0,255 0/1:99:255,0,255 0/1:99:255,0,255 . 3 142281353 rs2229033 C G NON_SYNONYMOUS_CODING ATR MODERATE|MISSENSE|aaG/aaC|K297N|2580|ATR|protein_coding|CODING|ENST00000383101|exon_3_142281074_142281951 . . . 0/1:99:255,0,209 3 142281353 rs2229033 C G NON_SYNONYMOUS_CODING ATR MODERATE|MISSENSE|aaG/aaC|K297N|2644|ATR|protein_coding|CODING|ENST00000350721|exon_3_142281074_142281951 . . . 0/1:99:255,0,209 3 142548560 rs35692900 A G NON_SYNONYMOUS_CODING PCOLCE2 MODERATE|MISSENSE|gTc/gCc|V280A|415|PCOLCE2|protein_coding|CODING|ENST00000295992|exon_3_142548534_142548688 . 0/1:99:254,0,255 . . 3 146251283 . G A NON_SYNONYMOUS_CODING PLSCR1 MODERATE|MISSENSE|Ctc/Ttc|L15F|170|PLSCR1|protein_coding|CODING|ENST00000486631|exon_3_146251257_146251337 . . . 0/1:99:255,0,255 3 146251283 . G A NON_SYNONYMOUS_CODING PLSCR1 MODERATE|MISSENSE|Ctc/Ttc|L15F|237|PLSCR1|protein_coding|CODING|ENST00000448787|exon_3_146251257_146251337 . . . 0/1:99:255,0,255 3 146251283 . G A NON_SYNONYMOUS_CODING PLSCR1 MODERATE|MISSENSE|cCt/cTt|P16L|311|PLSCR1|protein_coding|CODING|ENST00000487389|exon_3_146251257_146251337 . . . 0/1:99:255,0,255 3 146251283 . G A NON_SYNONYMOUS_CODING PLSCR1 MODERATE|MISSENSE|cCt/cTt|P23L|247|PLSCR1|protein_coding|CODING|ENST00000462666|exon_3_146251257_146251337 . . . 0/1:99:255,0,255 3 146251283 . G A NON_SYNONYMOUS_CODING PLSCR1 MODERATE|MISSENSE|cCt/cTt|P23L|248|PLSCR1|protein_coding|CODING|ENST00000472349|exon_3_146251257_146251337 . . . 0/1:99:255,0,255 3 146251283 . G A NON_SYNONYMOUS_CODING PLSCR1 MODERATE|MISSENSE|cCt/cTt|P23L|318|PLSCR1|protein_coding|CODING|ENST00000342435|exon_3_146251257_146251337 . . . 0/1:99:255,0,255 3 148559651 rs138120056 C A NON_SYNONYMOUS_CODING CPB1 MODERATE|MISSENSE|gaC/gaA|D138E|202|CPB1|protein_coding|CODING|ENST00000468341|exon_3_148559610_148559711 0/1:99:255,0,255 . . . 3 148559651 rs138120056 C A NON_SYNONYMOUS_CODING CPB1 MODERATE|MISSENSE|gaC/gaA|D172E|417|CPB1|protein_coding|CODING|ENST00000282957|exon_3_148559610_148559711 0/1:99:255,0,255 . . . 3 148559651 rs138120056 C A NON_SYNONYMOUS_CODING CPB1 MODERATE|MISSENSE|gaC/gaA|D172E|417|CPB1|protein_coding|CODING|ENST00000491148|exon_3_148559610_148559711 0/1:99:255,0,255 . . . 3 148847548 . A C NON_SYNONYMOUS_CODING HPS3 MODERATE|MISSENSE|cAg/cCg|Q13P|1004|HPS3|protein_coding|CODING|ENST00000296051|exon_3_148847371_148847727 . . 0/1:99:231,0,244 . 3 148847548 . A C NON_SYNONYMOUS_CODING HPS3 MODERATE|MISSENSE|cAg/cCg|Q13P|839|HPS3|protein_coding|CODING|ENST00000460120|exon_3_148847425_148847727 . . 0/1:99:231,0,244 . 3 148847549 . G C NON_SYNONYMOUS_CODING HPS3 MODERATE|MISSENSE|caG/caC|Q13H|1004|HPS3|protein_coding|CODING|ENST00000296051|exon_3_148847371_148847727 . . 0/1:99:227,0,244 . 3 148847549 . G C NON_SYNONYMOUS_CODING HPS3 MODERATE|MISSENSE|caG/caC|Q13H|839|HPS3|protein_coding|CODING|ENST00000460120|exon_3_148847425_148847727 . . 0/1:99:227,0,244 . 3 151161330 rs35736581 T A NON_SYNONYMOUS_CODING IGSF10 MODERATE|MISSENSE|gAc/gTc|D1802V|2623|IGSF10|protein_coding|CODING|ENST00000282466|exon_3_151160772_151161672 . . . 0/1:99:184,0,255 3 151161330 rs35736581 T A NON_SYNONYMOUS_CODING IGSF10 MODERATE|MISSENSE|gAc/gTc|D429V|632|IGSF10|protein_coding|CODING|ENST00000544042|exon_3_151160772_151161672 . . . 0/1:99:184,0,255 3 151166723 rs115845945 T C NON_SYNONYMOUS_CODING IGSF10 MODERATE|MISSENSE|aAt/aGt|N349S|2623|IGSF10|protein_coding|CODING|ENST00000282466|exon_3_151162707_151167053 . . 0/1:99:225,0,255 . 3 153943770 rs74965475 C G NON_SYNONYMOUS_CODING ARHGEF26 MODERATE|MISSENSE|aaC/aaG|N687K|871|ARHGEF26|protein_coding|CODING|ENST00000356448|exon_3_153943645_153943799 . . . 0/1:99:255,0,249 3 153943770 rs74965475 C G NON_SYNONYMOUS_CODING ARHGEF26 MODERATE|MISSENSE|aaC/aaG|N687K|871|ARHGEF26|protein_coding|CODING|ENST00000465093|exon_3_153943645_153943799 . . . 0/1:99:255,0,249 3 157131788 rs1378796 A C NON_SYNONYMOUS_CODING VEPH1 MODERATE|MISSENSE|gTc/gGc|V263G|788|VEPH1|protein_coding|CODING|ENST00000392833|exon_3_157131670_157131879 0/1:99:255,0,255 . . 0/1:99:255,0,255 3 157131788 rs1378796 A C NON_SYNONYMOUS_CODING VEPH1 MODERATE|MISSENSE|gTc/gGc|V263G|788|VEPH1|protein_coding|CODING|ENST00000543418|exon_3_157131670_157131879 0/1:99:255,0,255 . . 0/1:99:255,0,255 3 157131788 rs1378796 A C NON_SYNONYMOUS_CODING VEPH1 MODERATE|MISSENSE|gTc/gGc|V263G|833|VEPH1|protein_coding|CODING|ENST00000362010|exon_3_157131670_157131879 0/1:99:255,0,255 . . 0/1:99:255,0,255 3 157131788 rs1378796 A C NON_SYNONYMOUS_CODING VEPH1 MODERATE|MISSENSE|gTc/gGc|V263G|833|VEPH1|protein_coding|CODING|ENST00000392832|exon_3_157131670_157131879 0/1:99:255,0,255 . . 0/1:99:255,0,255 3 157155419 rs148943471 G C NON_SYNONYMOUS_CODING PTX3 MODERATE|MISSENSE|gGc/gCc|G83A|381|PTX3|protein_coding|CODING|ENST00000295927|exon_3_157155302_157155703 . . . 0/1:99:168,0,241 3 157155671 rs191352729 A G NON_SYNONYMOUS_CODING PTX3 MODERATE|MISSENSE|cAg/cGg|Q167R|381|PTX3|protein_coding|CODING|ENST00000295927|exon_3_157155302_157155703 . 0/1:99:223,0,188 . . 3 157318013 . A G NON_SYNONYMOUS_CODING C3orf55 MODERATE|MISSENSE|Atc/Gtc|I112V|135|C3orf55|protein_coding|CODING|ENST00000449199|exon_3_157317982_157319022 0/1:99:248,0,255 . . . 3 157318013 . A G NON_SYNONYMOUS_CODING C3orf55 MODERATE|MISSENSE|cAt/cGt|H82R|133|C3orf55|protein_coding|CODING|ENST00000426338|exon_3_157317982_157318871 0/1:99:248,0,255 . . . 3 158520011 rs28364680 C T NON_SYNONYMOUS_CODING MFSD1 MODERATE|MISSENSE|Ccg/Tcg|P24S|252|MFSD1|protein_coding|CODING|ENST00000361159|exon_3_158519896_158520104 0/1:99:96,0,255 . . . 3 158520011 rs28364680 C T NON_SYNONYMOUS_CODING MFSD1 MODERATE|MISSENSE|Ccg/Tcg|P24S|465|MFSD1|protein_coding|CODING|ENST00000264266|exon_3_158519715_158520104 0/1:99:96,0,255 . . . 3 158520011 rs28364680 C T NON_SYNONYMOUS_CODING MFSD1 MODERATE|MISSENSE|Ccg/Tcg|P73S|475|MFSD1|protein_coding|CODING|ENST00000392813|exon_3_158519715_158520104 0/1:99:96,0,255 . . . 3 158520011 rs28364680 C T NON_SYNONYMOUS_CODING MFSD1 MODERATE|MISSENSE|Ccg/Tcg|P73S|514|MFSD1|protein_coding|CODING|ENST00000415822|exon_3_158519654_158520104 0/1:99:96,0,255 . . . 3 164906745 rs148619985 G T NON_SYNONYMOUS_CODING SLITRK3 MODERATE|MISSENSE|gCc/gAc|A625D|977|SLITRK3|protein_coding|CODING|ENST00000241274|exon_3_164904510_164908639 . 0/1:99:244,0,253 . . 3 164906745 rs148619985 G T NON_SYNONYMOUS_CODING SLITRK3 MODERATE|MISSENSE|gCc/gAc|A625D|977|SLITRK3|protein_coding|CODING|ENST00000475390|exon_3_164904508_164908639 . 0/1:99:244,0,253 . . 3 169485639 rs2068178 C T NON_SYNONYMOUS_CODING AC078802.1 MODERATE|MISSENSE|Gag/Aag|E234K|372|AC078802.1|protein_coding|CODING|ENST00000330368|exon_3_169484713_169486138 0/1:99:255,0,255 . . . 3 169513320 rs79490962 A T NON_SYNONYMOUS_CODING LRRC34 MODERATE|MISSENSE|Tct/Act|S321T|403|LRRC34|protein_coding|CODING|ENST00000522830|exon_3_169513273_169513399 0/1:99:255,0,255 . . . 3 169513320 rs79490962 A T NON_SYNONYMOUS_CODING LRRC34 MODERATE|MISSENSE|Tct/Act|S337T|419|LRRC34|protein_coding|CODING|ENST00000316515|exon_3_169513273_169513399 0/1:99:255,0,255 . . . 3 169513320 rs79490962 A T NON_SYNONYMOUS_CODING LRRC34 MODERATE|MISSENSE|Tct/Act|S350T|432|LRRC34|protein_coding|CODING|ENST00000522526|exon_3_169513273_169513399 0/1:99:255,0,255 . . . 3 169513320 rs79490962 A T NON_SYNONYMOUS_CODING LRRC34 MODERATE|MISSENSE|Tct/Act|S382T|464|LRRC34|protein_coding|CODING|ENST00000446859|exon_3_169513273_169513399 0/1:99:255,0,255 . . . 3 169514585 rs10936600 A T NON_SYNONYMOUS_CODING LRRC34 MODERATE|MISSENSE|Tta/Ata|L225I|403|LRRC34|protein_coding|CODING|ENST00000522830|exon_3_169514533_169514687 0/1:99:255,0,255 1/1:99:255,117,0 . . 3 169514585 rs10936600 A T NON_SYNONYMOUS_CODING LRRC34 MODERATE|MISSENSE|Tta/Ata|L241I|419|LRRC34|protein_coding|CODING|ENST00000316515|exon_3_169514533_169514687 0/1:99:255,0,255 1/1:99:255,117,0 . . 3 169514585 rs10936600 A T NON_SYNONYMOUS_CODING LRRC34 MODERATE|MISSENSE|Tta/Ata|L254I|432|LRRC34|protein_coding|CODING|ENST00000522526|exon_3_169514533_169514687 0/1:99:255,0,255 1/1:99:255,117,0 . . 3 169514585 rs10936600 A T NON_SYNONYMOUS_CODING LRRC34 MODERATE|MISSENSE|Tta/Ata|L286I|464|LRRC34|protein_coding|CODING|ENST00000446859|exon_3_169514533_169514687 0/1:99:255,0,255 1/1:99:255,117,0 . . 3 169514585 rs10936600 A T NON_SYNONYMOUS_CODING LRRC34 MODERATE|MISSENSE|Tta/Ata|L35I|56|LRRC34|protein_coding|CODING|ENST00000528597|exon_3_169514533_169514687 0/1:99:255,0,255 1/1:99:255,117,0 . . 3 169518455 rs6793295 T C NON_SYNONYMOUS_CODING LRRC34 MODERATE|MISSENSE|Agt/Ggt|S188G|403|LRRC34|protein_coding|CODING|ENST00000522830|exon_3_169518447_169518542 1/1:99:255,117,0 1/1:99:255,117,0 . . 3 169518455 rs6793295 T C NON_SYNONYMOUS_CODING LRRC34 MODERATE|MISSENSE|Agt/Ggt|S249G|464|LRRC34|protein_coding|CODING|ENST00000446859|exon_3_169518447_169518542 1/1:99:255,117,0 1/1:99:255,117,0 . . 3 169572621 rs3732452 G T NON_SYNONYMOUS_CODING LRRC31 MODERATE|MISSENSE|gCa/gAa|A268E|496|LRRC31|protein_coding|CODING|ENST00000264676|exon_3_169572601_169572768 0/1:99:255,0,230 . . . 3 169572621 rs3732452 G T NON_SYNONYMOUS_CODING LRRC31 MODERATE|MISSENSE|gCa/gAa|A324E|443|LRRC31|protein_coding|CODING|ENST00000523069|exon_3_169572601_169572768 0/1:99:255,0,230 . . . 3 169572621 rs3732452 G T NON_SYNONYMOUS_CODING LRRC31 MODERATE|MISSENSE|gCa/gAa|A324E|552|LRRC31|protein_coding|CODING|ENST00000316428|exon_3_169572601_169572768 0/1:99:255,0,230 . . . 3 169587465 . G C NON_SYNONYMOUS_CODING LRRC31 MODERATE|MISSENSE|tCc/tGc|S44C|443|LRRC31|protein_coding|CODING|ENST00000523069|exon_3_169587421_169587621 0/1:99:193,0,255 . . . 3 169587465 . G C NON_SYNONYMOUS_CODING LRRC31 MODERATE|MISSENSE|tCc/tGc|S44C|496|LRRC31|protein_coding|CODING|ENST00000264676|exon_3_169587421_169587718 0/1:99:193,0,255 . . . 3 169587465 . G C NON_SYNONYMOUS_CODING LRRC31 MODERATE|MISSENSE|tCc/tGc|S44C|552|LRRC31|protein_coding|CODING|ENST00000316428|exon_3_169587421_169587653 0/1:99:193,0,255 . . . 3 170201230 rs2276717 C T NON_SYNONYMOUS_CODING SLC7A14 MODERATE|MISSENSE|Ggg/Agg|G330R|771|SLC7A14|protein_coding|CODING|ENST00000231706|exon_3_170201103_170201311 0/1:99:188,0,235 . . . 3 170204096 rs116040996 G A NON_SYNONYMOUS_CODING SLC7A14 MODERATE|MISSENSE|aCt/aTt|T274I|771|SLC7A14|protein_coding|CODING|ENST00000231706|exon_3_170204011_170204157 . 0/1:99:255,0,221 . . 3 172048389 rs201974179 G A NON_SYNONYMOUS_CODING FNDC3B MODERATE|MISSENSE|Gca/Aca|A480T|1204|FNDC3B|protein_coding|CODING|ENST00000336824|exon_3_172048331_172048505 0/1:99:250,0,255 . . . 3 172048389 rs201974179 G A NON_SYNONYMOUS_CODING FNDC3B MODERATE|MISSENSE|Gca/Aca|A480T|1204|FNDC3B|protein_coding|CODING|ENST00000415807|exon_3_172048331_172048505 0/1:99:250,0,255 . . . 3 172048389 rs201974179 G A NON_SYNONYMOUS_CODING FNDC3B MODERATE|MISSENSE|Gca/Aca|A480T|1204|FNDC3B|protein_coding|CODING|ENST00000416957|exon_3_172048331_172048505 0/1:99:250,0,255 . . . 3 172480580 rs138074177 A G NON_SYNONYMOUS_CODING ECT2 MODERATE|MISSENSE|tAt/tGt|Y298C|882|ECT2|protein_coding|CODING|ENST00000417960|exon_3_172480481_172480596 . 0/1:99:255,0,255 . . 3 172480580 rs138074177 A G NON_SYNONYMOUS_CODING ECT2 MODERATE|MISSENSE|tAt/tGt|Y299C|883|ECT2|protein_coding|CODING|ENST00000232458|exon_3_172480481_172480596 . 0/1:99:255,0,255 . . 3 172480580 rs138074177 A G NON_SYNONYMOUS_CODING ECT2 MODERATE|MISSENSE|tAt/tGt|Y299C|883|ECT2|protein_coding|CODING|ENST00000441497|exon_3_172480481_172480596 . 0/1:99:255,0,255 . . 3 172480580 rs138074177 A G NON_SYNONYMOUS_CODING ECT2 MODERATE|MISSENSE|tAt/tGt|Y299C|927|ECT2|protein_coding|CODING|ENST00000427830|exon_3_172480481_172480596 . 0/1:99:255,0,255 . . 3 172480580 rs138074177 A G NON_SYNONYMOUS_CODING ECT2 MODERATE|MISSENSE|tAt/tGt|Y330C|914|ECT2|protein_coding|CODING|ENST00000392692|exon_3_172480481_172480596 . 0/1:99:255,0,255 . . 3 172480580 rs138074177 A G NON_SYNONYMOUS_CODING ECT2 MODERATE|MISSENSE|tAt/tGt|Y330C|914|ECT2|protein_coding|CODING|ENST00000540509|exon_3_172480481_172480596 . 0/1:99:255,0,255 . . 3 178927410 rs2230461 A G NON_SYNONYMOUS_CODING PIK3CA MODERATE|MISSENSE|atA/atG|I391M|1068|PIK3CA|protein_coding|CODING|ENST00000263967|exon_3_178927383_178927488 . . . 0/1:99:255,0,255 3 178961038 rs139527128 T C NON_SYNONYMOUS_CODING KCNMB3 MODERATE|MISSENSE|aAt/aGt|N143S|257|KCNMB3|protein_coding|CODING|ENST00000485523|exon_3_178960566_178961072 . 0/1:99:184,0,217 . . 3 178961038 rs139527128 T C NON_SYNONYMOUS_CODING KCNMB3 MODERATE|MISSENSE|aAt/aGt|N161S|275|KCNMB3|protein_coding|CODING|ENST00000392685|exon_3_178960552_178961072 . 0/1:99:184,0,217 . . 3 178961038 rs139527128 T C NON_SYNONYMOUS_CODING KCNMB3 MODERATE|MISSENSE|aAt/aGt|N163S|277|KCNMB3|protein_coding|CODING|ENST00000349697|exon_3_178960559_178961072 . 0/1:99:184,0,217 . . 3 178961038 rs139527128 T C NON_SYNONYMOUS_CODING KCNMB3 MODERATE|MISSENSE|aAt/aGt|N165S|279|KCNMB3|protein_coding|CODING|ENST00000314235|exon_3_178960559_178961072 . 0/1:99:184,0,217 . . 3 179051500 . G C NON_SYNONYMOUS_CODING ZNF639 MODERATE|MISSENSE|Gaa/Caa|E250Q|287|ZNF639|protein_coding|CODING|ENST00000466264|exon_3_179051057_179051617 . . . 0/1:99:185,0,255 3 179051500 . G C NON_SYNONYMOUS_CODING ZNF639 MODERATE|MISSENSE|Gaa/Caa|E250Q|485|ZNF639|protein_coding|CODING|ENST00000326361|exon_3_179051057_179053323 . . . 0/1:99:185,0,255 3 179051500 . G C NON_SYNONYMOUS_CODING ZNF639 MODERATE|MISSENSE|Gaa/Caa|E250Q|485|ZNF639|protein_coding|CODING|ENST00000484866|exon_3_179051057_179052400 . . . 0/1:99:185,0,255 3 179051500 . G C NON_SYNONYMOUS_CODING ZNF639 MODERATE|MISSENSE|Gaa/Caa|E250Q|485|ZNF639|protein_coding|CODING|ENST00000496856|exon_3_179051057_179052402 . . . 0/1:99:185,0,255 3 179306775 rs10513762 C T NON_SYNONYMOUS_CODING MRPL47 MODERATE|MISSENSE|cGt/cAt|R103H|140|MRPL47|protein_coding|CODING|ENST00000392659|exon_3_179306619_179306783 . . 0/1:99:255,0,255 . 3 179306775 rs10513762 C T NON_SYNONYMOUS_CODING MRPL47 MODERATE|MISSENSE|cGt/cAt|R193H|230|MRPL47|protein_coding|CODING|ENST00000259038|exon_3_179306243_179306783 . . 0/1:99:255,0,255 . 3 179306775 rs10513762 C T NON_SYNONYMOUS_CODING MRPL47 MODERATE|MISSENSE|cGt/cAt|R213H|250|MRPL47|protein_coding|CODING|ENST00000476781|exon_3_179306073_179306783 . . 0/1:99:255,0,255 . 3 179322385 rs2339844 A C NON_SYNONYMOUS_CODING MRPL47 MODERATE|MISSENSE|Tgt/Ggt|C10G|230|MRPL47|protein_coding|CODING|ENST00000259038|exon_3_179322315_179322428 . . 0/1:99:252,0,107 . 3 179322385 rs2339844 A C NON_SYNONYMOUS_CODING MRPL47 MODERATE|MISSENSE|Tgt/Ggt|C10G|250|MRPL47|protein_coding|CODING|ENST00000476781|exon_3_179322315_179322442 . . 0/1:99:252,0,107 . 3 180364961 rs115545935 T C NON_SYNONYMOUS_CODING CCDC39 MODERATE|MISSENSE|cAa/cGa|Q478R|941|CCDC39|protein_coding|CODING|ENST00000442201|exon_3_180364867_180365031 . 0/1:99:240,0,255 . . 3 180364961 rs115545935 T C NON_SYNONYMOUS_CODING CCDC39 MODERATE|MISSENSE|cAa/cGa|Q562R|755|CCDC39|protein_coding|CODING|ENST00000273654|exon_3_180364867_180365031 . 0/1:99:240,0,255 . . 3 180370033 . C T NON_SYNONYMOUS_CODING CCDC39 MODERATE|MISSENSE|Gtg/Atg|V318M|941|CCDC39|protein_coding|CODING|ENST00000442201|exon_3_180369951_180370054 0/1:99:255,0,255 . . . 3 180370033 . C T NON_SYNONYMOUS_CODING CCDC39 MODERATE|MISSENSE|Gtg/Atg|V402M|755|CCDC39|protein_coding|CODING|ENST00000273654|exon_3_180369951_180370054 0/1:99:255,0,255 . . . 3 180377529 rs112738198 G C NON_SYNONYMOUS_CODING CCDC39 MODERATE|MISSENSE|aCt/aGt|T182S|941|CCDC39|protein_coding|CODING|ENST00000442201|exon_3_180377465_180377557 . . 0/1:99:255,0,255 . 3 180377529 rs112738198 G C NON_SYNONYMOUS_CODING CCDC39 MODERATE|MISSENSE|aCt/aGt|T266S|755|CCDC39|protein_coding|CODING|ENST00000273654|exon_3_180377465_180377557 . . 0/1:99:255,0,255 . 3 183490222 rs116616592 G T NON_SYNONYMOUS_CODING YEATS2 MODERATE|MISSENSE|Gta/Tta|V693L|1422|YEATS2|protein_coding|CODING|ENST00000305135|exon_3_183490093_183490351 0/1:99:235,0,244 . . . 3 183490222 rs116616592 G T NON_SYNONYMOUS_CODING YEATS2 MODERATE|MISSENSE|Gta/Tta|V693L|1422|YEATS2|protein_coding|CODING|ENST00000421660|exon_3_183490093_183490351 0/1:99:235,0,244 . . . 3 183753777 rs36092077 G A NON_SYNONYMOUS_CODING HTR3D MODERATE|MISSENSE|cGg/cAg|R90Q|454|HTR3D|protein_coding|CODING|ENST00000382489|exon_3_183753766_183753888 0/1:99:147,0,255 . . . 3 183908982 rs11706273 C T NON_SYNONYMOUS_CODING ABCF3 MODERATE|MISSENSE|cCg/cTg|P497L|703|ABCF3|protein_coding|CODING|ENST00000292808|exon_3_183908911_183909043 . . 0/1:99:255,0,213 . 3 183908982 rs11706273 C T NON_SYNONYMOUS_CODING ABCF3 MODERATE|MISSENSE|cCg/cTg|P503L|709|ABCF3|protein_coding|CODING|ENST00000429586|exon_3_183908911_183909043 . . 0/1:99:255,0,213 . 3 183975408 rs148306373 G A NON_SYNONYMOUS_CODING ECE2 MODERATE|MISSENSE|cGg/cAg|R115Q|255|ECE2|protein_coding|CODING|ENST00000324557|exon_3_183975261_183975544 0/1:99:189,0,176 . . . 3 183975408 rs148306373 G A NON_SYNONYMOUS_CODING ECE2 MODERATE|MISSENSE|cGg/cAg|R115Q|883|ECE2|protein_coding|CODING|ENST00000402825|exon_3_183975261_183975544 0/1:99:189,0,176 . . . 3 184009241 . G A NON_SYNONYMOUS_CODING ECE2 MODERATE|MISSENSE|cGg/cAg|R704Q|716|ECE2|protein_coding|CODING|ENST00000430587|exon_3_184009132_184009718 0/1:99:194,0,234 . . . 3 184039775 rs200221361 C A NON_SYNONYMOUS_CODING EIF4G1 MODERATE|MISSENSE|gCa/gAa|A272E|1403|EIF4G1|protein_coding|CODING|ENST00000435046|exon_3_184039070_184039891 . . . 0/1:83:80,0,255 3 184039775 rs200221361 C A NON_SYNONYMOUS_CODING EIF4G1 MODERATE|MISSENSE|gCa/gAa|A272E|1404|EIF4G1|protein_coding|CODING|ENST00000434061|exon_3_184039070_184039891 . . . 0/1:83:80,0,255 3 184039775 rs200221361 C A NON_SYNONYMOUS_CODING EIF4G1 MODERATE|MISSENSE|gCa/gAa|A272E|284|EIF4G1|protein_coding|CODING|ENST00000457456|exon_3_184039070_184039815 . . . 0/1:83:80,0,255 3 184039775 rs200221361 C A NON_SYNONYMOUS_CODING EIF4G1 MODERATE|MISSENSE|gCa/gAa|A304E|1435|EIF4G1|protein_coding|CODING|ENST00000350481|exon_3_184039070_184039891 . . . 0/1:83:80,0,255 3 184039775 rs200221361 C A NON_SYNONYMOUS_CODING EIF4G1 MODERATE|MISSENSE|gCa/gAa|A304E|1436|EIF4G1|protein_coding|CODING|ENST00000441154|exon_3_184039070_184039891 . . . 0/1:83:80,0,255 3 184039775 rs200221361 C A NON_SYNONYMOUS_CODING EIF4G1 MODERATE|MISSENSE|gCa/gAa|A304E|756|EIF4G1|protein_coding|CODING|ENST00000444861|exon_3_184039070_184039891 . . . 0/1:83:80,0,255 3 184039775 rs200221361 C A NON_SYNONYMOUS_CODING EIF4G1 MODERATE|MISSENSE|gCa/gAa|A381E|1512|EIF4G1|protein_coding|CODING|ENST00000392537|exon_3_184039070_184039891 . . . 0/1:83:80,0,255 3 184039775 rs200221361 C A NON_SYNONYMOUS_CODING EIF4G1 MODERATE|MISSENSE|gCa/gAa|A381E|1513|EIF4G1|protein_coding|CODING|ENST00000427845|exon_3_184039070_184039891 . . . 0/1:83:80,0,255 3 184039775 rs200221361 C A NON_SYNONYMOUS_CODING EIF4G1 MODERATE|MISSENSE|gCa/gAa|A409E|902|EIF4G1|protein_coding|CODING|ENST00000426123|exon_3_184039070_184039891 . . . 0/1:83:80,0,255 3 184039775 rs200221361 C A NON_SYNONYMOUS_CODING EIF4G1 MODERATE|MISSENSE|gCa/gAa|A428E|1559|EIF4G1|protein_coding|CODING|ENST00000414031|exon_3_184039070_184039891 . . . 0/1:83:80,0,255 3 184039775 rs200221361 C A NON_SYNONYMOUS_CODING EIF4G1 MODERATE|MISSENSE|gCa/gAa|A428E|1560|EIF4G1|protein_coding|CODING|ENST00000411531|exon_3_184039070_184039891 . . . 0/1:83:80,0,255 3 184039775 rs200221361 C A NON_SYNONYMOUS_CODING EIF4G1 MODERATE|MISSENSE|gCa/gAa|A468E|1599|EIF4G1|protein_coding|CODING|ENST00000319274|exon_3_184039070_184039891 . . . 0/1:83:80,0,255 3 184039775 rs200221361 C A NON_SYNONYMOUS_CODING EIF4G1 MODERATE|MISSENSE|gCa/gAa|A468E|1599|EIF4G1|protein_coding|CODING|ENST00000346169|exon_3_184039070_184039891 . . . 0/1:83:80,0,255 3 184039775 rs200221361 C A NON_SYNONYMOUS_CODING EIF4G1 MODERATE|MISSENSE|gCa/gAa|A468E|1600|EIF4G1|protein_coding|CODING|ENST00000342981|exon_3_184039070_184039891 . . . 0/1:83:80,0,255 3 184039775 rs200221361 C A NON_SYNONYMOUS_CODING EIF4G1 MODERATE|MISSENSE|gCa/gAa|A468E|832|EIF4G1|protein_coding|CODING|ENST00000450424|exon_3_184039070_184039891 . . . 0/1:83:80,0,255 3 184039775 rs200221361 C A NON_SYNONYMOUS_CODING EIF4G1 MODERATE|MISSENSE|gCa/gAa|A475E|1606|EIF4G1|protein_coding|CODING|ENST00000352767|exon_3_184039070_184039891 . . . 0/1:83:80,0,255 3 184039775 rs200221361 C A NON_SYNONYMOUS_CODING EIF4G1 MODERATE|MISSENSE|gCa/gAa|A475E|1606|EIF4G1|protein_coding|CODING|ENST00000382330|exon_3_184039070_184039891 . . . 0/1:83:80,0,255 3 184039775 rs200221361 C A NON_SYNONYMOUS_CODING EIF4G1 MODERATE|MISSENSE|gCa/gAa|A475E|1606|EIF4G1|protein_coding|CODING|ENST00000424196|exon_3_184039070_184039891 . . . 0/1:83:80,0,255 3 184039775 rs200221361 C A NON_SYNONYMOUS_CODING EIF4G1 MODERATE|MISSENSE|gCa/gAa|A475E|868|EIF4G1|protein_coding|CODING|ENST00000421110|exon_3_184039070_184039891 . . . 0/1:83:80,0,255 3 184045410 rs2230570 T C NON_SYNONYMOUS_CODING EIF4G1 MODERATE|MISSENSE|cTg/cCg|L1037P|1403|EIF4G1|protein_coding|CODING|ENST00000435046|exon_3_184045374_184045492 . . . 0/1:99:238,0,150 3 184045410 rs2230570 T C NON_SYNONYMOUS_CODING EIF4G1 MODERATE|MISSENSE|cTg/cCg|L1038P|1404|EIF4G1|protein_coding|CODING|ENST00000434061|exon_3_184045374_184045492 . . . 0/1:99:238,0,150 3 184045410 rs2230570 T C NON_SYNONYMOUS_CODING EIF4G1 MODERATE|MISSENSE|cTg/cCg|L1069P|1435|EIF4G1|protein_coding|CODING|ENST00000350481|exon_3_184045374_184045492 . . . 0/1:99:238,0,150 3 184045410 rs2230570 T C NON_SYNONYMOUS_CODING EIF4G1 MODERATE|MISSENSE|cTg/cCg|L1070P|1436|EIF4G1|protein_coding|CODING|ENST00000441154|exon_3_184045374_184045492 . . . 0/1:99:238,0,150 3 184045410 rs2230570 T C NON_SYNONYMOUS_CODING EIF4G1 MODERATE|MISSENSE|cTg/cCg|L1146P|1512|EIF4G1|protein_coding|CODING|ENST00000392537|exon_3_184045374_184045492 . . . 0/1:99:238,0,150 3 184045410 rs2230570 T C NON_SYNONYMOUS_CODING EIF4G1 MODERATE|MISSENSE|cTg/cCg|L1147P|1513|EIF4G1|protein_coding|CODING|ENST00000427845|exon_3_184045374_184045492 . . . 0/1:99:238,0,150 3 184045410 rs2230570 T C NON_SYNONYMOUS_CODING EIF4G1 MODERATE|MISSENSE|cTg/cCg|L1193P|1559|EIF4G1|protein_coding|CODING|ENST00000414031|exon_3_184045374_184045492 . . . 0/1:99:238,0,150 3 184045410 rs2230570 T C NON_SYNONYMOUS_CODING EIF4G1 MODERATE|MISSENSE|cTg/cCg|L1194P|1560|EIF4G1|protein_coding|CODING|ENST00000411531|exon_3_184045374_184045492 . . . 0/1:99:238,0,150 3 184045410 rs2230570 T C NON_SYNONYMOUS_CODING EIF4G1 MODERATE|MISSENSE|cTg/cCg|L1233P|1599|EIF4G1|protein_coding|CODING|ENST00000319274|exon_3_184045374_184045492 . . . 0/1:99:238,0,150 3 184045410 rs2230570 T C NON_SYNONYMOUS_CODING EIF4G1 MODERATE|MISSENSE|cTg/cCg|L1233P|1599|EIF4G1|protein_coding|CODING|ENST00000346169|exon_3_184045374_184045492 . . . 0/1:99:238,0,150 3 184045410 rs2230570 T C NON_SYNONYMOUS_CODING EIF4G1 MODERATE|MISSENSE|cTg/cCg|L1234P|1600|EIF4G1|protein_coding|CODING|ENST00000342981|exon_3_184045374_184045492 . . . 0/1:99:238,0,150 3 184045410 rs2230570 T C NON_SYNONYMOUS_CODING EIF4G1 MODERATE|MISSENSE|cTg/cCg|L1240P|1606|EIF4G1|protein_coding|CODING|ENST00000352767|exon_3_184045374_184045492 . . . 0/1:99:238,0,150 3 184045410 rs2230570 T C NON_SYNONYMOUS_CODING EIF4G1 MODERATE|MISSENSE|cTg/cCg|L1240P|1606|EIF4G1|protein_coding|CODING|ENST00000382330|exon_3_184045374_184045492 . . . 0/1:99:238,0,150 3 184045410 rs2230570 T C NON_SYNONYMOUS_CODING EIF4G1 MODERATE|MISSENSE|cTg/cCg|L1240P|1606|EIF4G1|protein_coding|CODING|ENST00000424196|exon_3_184045374_184045492 . . . 0/1:99:238,0,150 3 184063382 rs73187642 C T NON_SYNONYMOUS_CODING FAM131A MODERATE|MISSENSE|tCa/tTa|S240L|251|FAM131A|protein_coding|CODING|ENST00000418281|exon_3_184063230_184064027 . . . 0/1:99:255,0,236 3 184070588 rs2228292 C G NON_SYNONYMOUS_CODING CLCN2 MODERATE|MISSENSE|gaG/gaC|E674D|854|CLCN2|protein_coding|CODING|ENST00000434054|exon_3_184070525_184070598 . . . 0/1:99:228,0,131 3 184070588 rs2228292 C G NON_SYNONYMOUS_CODING CLCN2 MODERATE|MISSENSE|gaG/gaC|E701D|881|CLCN2|protein_coding|CODING|ENST00000344937|exon_3_184070525_184070598 . . . 0/1:99:228,0,131 3 184070588 rs2228292 C G NON_SYNONYMOUS_CODING CLCN2 MODERATE|MISSENSE|gaG/gaC|E718D|869|CLCN2|protein_coding|CODING|ENST00000457512|exon_3_184070525_184070598 . . . 0/1:99:228,0,131 3 184070588 rs2228292 C G NON_SYNONYMOUS_CODING CLCN2 MODERATE|MISSENSE|gaG/gaC|E718D|898|CLCN2|protein_coding|CODING|ENST00000265593|exon_3_184070525_184070598 . . . 0/1:99:228,0,131 3 184070901 rs111656822 C T NON_SYNONYMOUS_CODING CLCN2 MODERATE|MISSENSE|cGg/cAg|R644Q|854|CLCN2|protein_coding|CODING|ENST00000434054|exon_3_184070821_184070935 . . . 0/1:99:134,0,162 3 184070901 rs111656822 C T NON_SYNONYMOUS_CODING CLCN2 MODERATE|MISSENSE|cGg/cAg|R671Q|881|CLCN2|protein_coding|CODING|ENST00000344937|exon_3_184070821_184070935 . . . 0/1:99:134,0,162 3 184070901 rs111656822 C T NON_SYNONYMOUS_CODING CLCN2 MODERATE|MISSENSE|cGg/cAg|R688Q|869|CLCN2|protein_coding|CODING|ENST00000457512|exon_3_184070821_184070935 . . . 0/1:99:134,0,162 3 184070901 rs111656822 C T NON_SYNONYMOUS_CODING CLCN2 MODERATE|MISSENSE|cGg/cAg|R688Q|898|CLCN2|protein_coding|CODING|ENST00000265593|exon_3_184070821_184070935 . . . 0/1:99:134,0,162 3 184071131 . CCGGCGG CCGGCGGCGG CODON_INSERTION CLCN2 MODERATE||gcc/gCCGcc|A599AA|854|CLCN2|protein_coding|CODING|ENST00000434054|exon_3_184071038_184071210 . . . 0/1:99:255,0,229 3 184071131 . CCGGCGG CCGGCGGCGG CODON_INSERTION CLCN2 MODERATE||gcc/gCCGcc|A626AA|881|CLCN2|protein_coding|CODING|ENST00000344937|exon_3_184071038_184071210 . . . 0/1:99:255,0,229 3 184071131 . CCGGCGG CCGGCGGCGG CODON_INSERTION CLCN2 MODERATE||gcc/gCCGcc|A643AA|869|CLCN2|protein_coding|CODING|ENST00000457512|exon_3_184071038_184071210 . . . 0/1:99:255,0,229 3 184071131 . CCGGCGG CCGGCGGCGG CODON_INSERTION CLCN2 MODERATE||gcc/gCCGcc|A643AA|898|CLCN2|protein_coding|CODING|ENST00000265593|exon_3_184071038_184071210 . . . 0/1:99:255,0,229 3 185214740 rs149580105 T C NON_SYNONYMOUS_CODING TMEM41A MODERATE|MISSENSE|gAg/gGg|E50G|264|TMEM41A|protein_coding|CODING|ENST00000421852|exon_3_185214616_185214769 . . 0/1:99:229,0,236 . 3 185214740 rs149580105 T C NON_SYNONYMOUS_CODING TMEM41A MODERATE|MISSENSE|gAg/gGg|E50G|92|TMEM41A|protein_coding|CODING|ENST00000296254|exon_3_185214616_185214769 . . 0/1:99:229,0,236 . 3 186358346 rs34522046 T C NON_SYNONYMOUS_CODING FETUB MODERATE|MISSENSE|Tcc/Ccc|S33P|317|FETUB|protein_coding|CODING|ENST00000382134|exon_3_186358149_186358478 . 0/1:99:210,0,231 . . 3 186358346 rs34522046 T C NON_SYNONYMOUS_CODING FETUB MODERATE|MISSENSE|Tcc/Ccc|S33P|345|FETUB|protein_coding|CODING|ENST00000382136|exon_3_186358248_186358474 . 0/1:99:210,0,231 . . 3 186358346 rs34522046 T C NON_SYNONYMOUS_CODING FETUB MODERATE|MISSENSE|Tcc/Ccc|S33P|382|FETUB|protein_coding|CODING|ENST00000265029|exon_3_186358149_186358474 . 0/1:99:210,0,231 . . 3 186358346 rs34522046 T C NON_SYNONYMOUS_CODING FETUB MODERATE|MISSENSE|Tcc/Ccc|S33P|382|FETUB|protein_coding|CODING|ENST00000450521|exon_3_186358249_186358474 . 0/1:99:210,0,231 . . 3 186370350 rs7999 A G NON_SYNONYMOUS_CODING FETUB MODERATE|MISSENSE|aAa/aGa|K212R|234|FETUB|protein_coding|CODING|ENST00000539949|exon_3_186370052_186370879 0/1:99:223,0,255 . . . 3 186370350 rs7999 A G NON_SYNONYMOUS_CODING FETUB MODERATE|MISSENSE|aAa/aGa|K295R|317|FETUB|protein_coding|CODING|ENST00000382134|exon_3_186370052_186370420 0/1:99:223,0,255 . . . 3 186370350 rs7999 A G NON_SYNONYMOUS_CODING FETUB MODERATE|MISSENSE|aAa/aGa|K323R|345|FETUB|protein_coding|CODING|ENST00000382136|exon_3_186370052_186370420 0/1:99:223,0,255 . . . 3 186370350 rs7999 A G NON_SYNONYMOUS_CODING FETUB MODERATE|MISSENSE|aAa/aGa|K360R|382|FETUB|protein_coding|CODING|ENST00000265029|exon_3_186370052_186370797 0/1:99:223,0,255 . . . 3 186370350 rs7999 A G NON_SYNONYMOUS_CODING FETUB MODERATE|MISSENSE|aAa/aGa|K360R|382|FETUB|protein_coding|CODING|ENST00000450521|exon_3_186370052_186370420 0/1:99:223,0,255 . . . 3 186572089 rs17366743 T C NON_SYNONYMOUS_CODING ADIPOQ MODERATE|MISSENSE|Tac/Cac|Y111H|244|ADIPOQ|protein_coding|CODING|ENST00000320741|exon_3_186571973_186576252 . 0/1:99:255,0,138 . . 3 186572089 rs17366743 T C NON_SYNONYMOUS_CODING ADIPOQ MODERATE|MISSENSE|Tac/Cac|Y111H|244|ADIPOQ|protein_coding|CODING|ENST00000412955|exon_3_186571973_186576252 . 0/1:99:255,0,138 . . 3 186572089 rs17366743 T C NON_SYNONYMOUS_CODING ADIPOQ MODERATE|MISSENSE|Tac/Cac|Y111H|244|ADIPOQ|protein_coding|CODING|ENST00000444204|exon_3_186571973_186576252 . 0/1:99:255,0,138 . . 3 186953932 rs72549154 C A NON_SYNONYMOUS_CODING MASP1 MODERATE|MISSENSE|aGg/aTg|R463M|479|MASP1|protein_coding|CODING|ENST00000541896|exon_3_186953922_186954355 . 0/1:99:231,0,107 . . 3 186953932 rs72549154 C A NON_SYNONYMOUS_CODING MASP1 MODERATE|MISSENSE|aGg/aTg|R463M|615|MASP1|protein_coding|CODING|ENST00000392472|exon_3_186951872_186954355 . 0/1:99:231,0,107 . . 3 186953932 rs72549154 C A NON_SYNONYMOUS_CODING MASP1 MODERATE|MISSENSE|aGg/aTg|R576M|728|MASP1|protein_coding|CODING|ENST00000296280|exon_3_186951870_186954355 . 0/1:99:231,0,107 . . 3 186959295 rs28945068 C T NON_SYNONYMOUS_CODING MASP1 MODERATE|MISSENSE|gGg/gAg|G313E|479|MASP1|protein_coding|CODING|ENST00000541896|exon_3_186959269_186959343 . . . 0/1:99:214,0,255 3 186959295 rs28945068 C T NON_SYNONYMOUS_CODING MASP1 MODERATE|MISSENSE|gGg/gAg|G313E|615|MASP1|protein_coding|CODING|ENST00000392472|exon_3_186959269_186959343 . . . 0/1:99:214,0,255 3 186959295 rs28945068 C T NON_SYNONYMOUS_CODING MASP1 MODERATE|MISSENSE|gGg/gAg|G426E|699|MASP1|protein_coding|CODING|ENST00000337774|exon_3_186959269_186959343 . . . 0/1:99:214,0,255 3 186959295 rs28945068 C T NON_SYNONYMOUS_CODING MASP1 MODERATE|MISSENSE|gGg/gAg|G426E|728|MASP1|protein_coding|CODING|ENST00000296280|exon_3_186959269_186959343 . . . 0/1:99:214,0,255 3 190573340 rs111544243 G C NON_SYNONYMOUS_CODING GMNC MODERATE|MISSENSE|aCa/aGa|T250R|334|GMNC|protein_coding|CODING|ENST00000442080|exon_3_190570667_190573704 . 0/1:99:255,0,255 . . 3 190573374 rs111524664 C G NON_SYNONYMOUS_CODING GMNC MODERATE|MISSENSE|Gag/Cag|E239Q|334|GMNC|protein_coding|CODING|ENST00000442080|exon_3_190570667_190573704 . 0/1:99:243,0,255 . . 3 193120535 rs149270045 G A NON_SYNONYMOUS_CODING ATP13A4 MODERATE|MISSENSE|cCg/cTg|P1147L|1177|ATP13A4|protein_coding|CODING|ENST00000392443|exon_3_193120147_193120653 0/1:99:214,0,255 . . . 3 193120535 rs149270045 G A NON_SYNONYMOUS_CODING ATP13A4 MODERATE|MISSENSE|cCg/cTg|P1166L|1196|ATP13A4|protein_coding|CODING|ENST00000342695|exon_3_193120147_193120653 0/1:99:214,0,255 . . . 3 193120535 rs149270045 G A NON_SYNONYMOUS_CODING ATP13A4 MODERATE|MISSENSE|cCg/cTg|P182L|212|ATP13A4|protein_coding|CODING|ENST00000400270|exon_3_193119866_193120653 0/1:99:214,0,255 . . . 3 193175200 rs143094413 T C NON_SYNONYMOUS_CODING ATP13A4 MODERATE|MISSENSE|Atg/Gtg|M558V|1177|ATP13A4|protein_coding|CODING|ENST00000392443|exon_3_193175168_193175254 . 0/1:99:239,0,255 . . 3 193175200 rs143094413 T C NON_SYNONYMOUS_CODING ATP13A4 MODERATE|MISSENSE|Atg/Gtg|M577V|1196|ATP13A4|protein_coding|CODING|ENST00000342695|exon_3_193175168_193175254 . 0/1:99:239,0,255 . . 3 194080916 rs13070515 G A NON_SYNONYMOUS_CODING LRRC15 MODERATE|MISSENSE|cCg/cTg|P286L|581|LRRC15|protein_coding|CODING|ENST00000347624|exon_3_194075976_194081775 . 0/1:99:255,0,176 . 0/1:99:180,0,130 3 194080916 rs13070515 G A NON_SYNONYMOUS_CODING LRRC15 MODERATE|MISSENSE|cCg/cTg|P292L|587|LRRC15|protein_coding|CODING|ENST00000428839|exon_3_194078656_194081775 . 0/1:99:255,0,176 . 0/1:99:180,0,130 3 194080916 rs13070515 G A NON_SYNONYMOUS_CODING LRRC15 MODERATE|MISSENSE|cCg/cTg|P292L|587|LRRC15|protein_coding|CODING|ENST00000439944|exon_3_194075976_194081775 . 0/1:99:255,0,176 . 0/1:99:180,0,130 3 194080983 rs13060627 C T NON_SYNONYMOUS_CODING LRRC15 MODERATE|MISSENSE|Gtc/Atc|V264I|581|LRRC15|protein_coding|CODING|ENST00000347624|exon_3_194075976_194081775 . 0/1:99:196,0,139 . 0/1:99:247,0,179 3 194080983 rs13060627 C T NON_SYNONYMOUS_CODING LRRC15 MODERATE|MISSENSE|Gtc/Atc|V270I|587|LRRC15|protein_coding|CODING|ENST00000428839|exon_3_194078656_194081775 . 0/1:99:196,0,139 . 0/1:99:247,0,179 3 194080983 rs13060627 C T NON_SYNONYMOUS_CODING LRRC15 MODERATE|MISSENSE|Gtc/Atc|V270I|587|LRRC15|protein_coding|CODING|ENST00000439944|exon_3_194075976_194081775 . 0/1:99:196,0,139 . 0/1:99:247,0,179 3 195306289 rs5952 A G NON_SYNONYMOUS_CODING APOD MODERATE|MISSENSE|tTc/tCc|F15S|148|APOD|protein_coding|CODING|ENST00000453131|exon_3_195306210_195306366 . . 0/1:99:249,0,132 . 3 195306289 rs5952 A G NON_SYNONYMOUS_CODING APOD MODERATE|MISSENSE|tTc/tCc|F15S|189|APOD|protein_coding|CODING|ENST00000343267|exon_3_195306210_195306366 . . 0/1:99:249,0,132 . 3 195306289 rs5952 A G NON_SYNONYMOUS_CODING APOD MODERATE|MISSENSE|tTc/tCc|F43S|214|APOD|protein_coding|CODING|ENST00000421243|exon_3_195306210_195306366 . . 0/1:99:249,0,132 . 3 195346308 rs201668441 G A NON_SYNONYMOUS_CODING MUC20 MODERATE|MISSENSE|Ggc/Agc|G204S|520|MUC20|protein_coding|CODING|ENST00000381954|exon_3_195346264_195346906 . . . 0/1:58:55,0,122 3 195452814 rs199753483 C T NON_SYNONYMOUS_CODING MUC20 MODERATE|MISSENSE|aCg/aTg|T276M|538|MUC20|protein_coding|CODING|ENST00000320736|exon_3_195452544_195453443 . . . 0/1:69:66,0,217 3 195452814 rs199753483 C T NON_SYNONYMOUS_CODING MUC20 MODERATE|MISSENSE|aCg/aTg|T412M|674|MUC20|protein_coding|CODING|ENST00000445522|exon_3_195451098_195453443 . . . 0/1:69:66,0,217 3 195452814 rs199753483 C T NON_SYNONYMOUS_CODING MUC20 MODERATE|MISSENSE|aCg/aTg|T447M|709|MUC20|protein_coding|CODING|ENST00000447234|exon_3_195451551_195453443 . . . 0/1:69:66,0,217 3 195452814 rs199753483 C T NON_SYNONYMOUS_CODING MUC20 MODERATE|MISSENSE|aCg/aTg|T447M|723|MUC20|protein_coding|CODING|ENST00000436408|exon_3_195451551_195453443 . . . 0/1:69:66,0,217 3 195453288 rs3828405 A C NON_SYNONYMOUS_CODING MUC20 MODERATE|MISSENSE|gAc/gCc|D416A|520|MUC20|protein_coding|CODING|ENST00000381954|exon_3_195453250_195453443 . 0/1:99:129,0,255 . . 3 195453288 rs3828405 A C NON_SYNONYMOUS_CODING MUC20 MODERATE|MISSENSE|gAc/gCc|D434A|538|MUC20|protein_coding|CODING|ENST00000320736|exon_3_195452544_195453443 . 0/1:99:129,0,255 . . 3 195453288 rs3828405 A C NON_SYNONYMOUS_CODING MUC20 MODERATE|MISSENSE|gAc/gCc|D570A|674|MUC20|protein_coding|CODING|ENST00000445522|exon_3_195451098_195453443 . 0/1:99:129,0,255 . . 3 195453288 rs3828405 A C NON_SYNONYMOUS_CODING MUC20 MODERATE|MISSENSE|gAc/gCc|D605A|709|MUC20|protein_coding|CODING|ENST00000447234|exon_3_195451551_195453443 . 0/1:99:129,0,255 . . 3 195453288 rs3828405 A C NON_SYNONYMOUS_CODING MUC20 MODERATE|MISSENSE|gAc/gCc|D605A|723|MUC20|protein_coding|CODING|ENST00000436408|exon_3_195451551_195453443 . 0/1:99:129,0,255 . . 3 195481189 . C T NON_SYNONYMOUS_CODING MUC4 MODERATE|MISSENSE|Gag/Aag|E1575K|1912|MUC4|protein_coding|CODING|ENST00000392409|exon_3_195481084_195481243 0/1:99:125,0,227 . . . 3 195481189 . C T NON_SYNONYMOUS_CODING MUC4 MODERATE|MISSENSE|Gag/Aag|E5023K|5360|MUC4|protein_coding|CODING|ENST00000475231|exon_3_195481084_195481243 0/1:99:125,0,227 . . . 3 195481189 . C T NON_SYNONYMOUS_CODING MUC4 MODERATE|MISSENSE|Gag/Aag|E5075K|5412|MUC4|protein_coding|CODING|ENST00000463781|exon_3_195481084_195481243 0/1:99:125,0,227 . . . 3 195481189 . C T NON_SYNONYMOUS_CODING MUC4 MODERATE|MISSENSE|Gag/Aag|E788K|1125|MUC4|protein_coding|CODING|ENST00000349607|exon_3_195481084_195481243 0/1:99:125,0,227 . . . 3 195481189 . C T NON_SYNONYMOUS_CODING MUC4 MODERATE|MISSENSE|Gag/Aag|E839K|1176|MUC4|protein_coding|CODING|ENST00000346145|exon_3_195481084_195481243 0/1:99:125,0,227 . . . 3 195505907 rs138720131 T G NON_SYNONYMOUS_CODING MUC4 MODERATE|MISSENSE|Act/Cct|T4182P|5360|MUC4|protein_coding|CODING|ENST00000475231|exon_3_195505661_195518368 . . . 0/1:32:53,0,29 3 195505907 rs138720131 T G NON_SYNONYMOUS_CODING MUC4 MODERATE|MISSENSE|Act/Cct|T4182P|5412|MUC4|protein_coding|CODING|ENST00000463781|exon_3_195505661_195518368 . . . 0/1:32:53,0,29 3 195505930 rs201499581 C G NON_SYNONYMOUS_CODING MUC4 MODERATE|MISSENSE|gGc/gCc|G4174A|5360|MUC4|protein_coding|CODING|ENST00000475231|exon_3_195505661_195518368 . . . 1/1:21:57,12,0 3 195505930 rs201499581 C G NON_SYNONYMOUS_CODING MUC4 MODERATE|MISSENSE|gGc/gCc|G4174A|5412|MUC4|protein_coding|CODING|ENST00000463781|exon_3_195505661_195518368 . . . 1/1:21:57,12,0 3 195505945 rs200786826 A G NON_SYNONYMOUS_CODING MUC4 MODERATE|MISSENSE|gTg/gCg|V4169A|5360|MUC4|protein_coding|CODING|ENST00000475231|exon_3_195505661_195518368 . . . 0/1:22:58,0,19 3 195505945 rs200786826 A G NON_SYNONYMOUS_CODING MUC4 MODERATE|MISSENSE|gTg/gCg|V4169A|5412|MUC4|protein_coding|CODING|ENST00000463781|exon_3_195505661_195518368 . . . 0/1:22:58,0,19 3 195505955 rs55789594 C T NON_SYNONYMOUS_CODING MUC4 MODERATE|MISSENSE|Gct/Act|A4166T|5360|MUC4|protein_coding|CODING|ENST00000475231|exon_3_195505661_195518368 . . . 0/1:4:141,0,1 3 195505955 rs55789594 C T NON_SYNONYMOUS_CODING MUC4 MODERATE|MISSENSE|Gct/Act|A4166T|5412|MUC4|protein_coding|CODING|ENST00000463781|exon_3_195505661_195518368 . . . 0/1:4:141,0,1 3 195506267 . C T NON_SYNONYMOUS_CODING MUC4 MODERATE|MISSENSE|Gcc/Acc|A4062T|5360|MUC4|protein_coding|CODING|ENST00000475231|exon_3_195505661_195518368 . . . 1/1:16:59,9,0 3 195506267 . C T NON_SYNONYMOUS_CODING MUC4 MODERATE|MISSENSE|Gcc/Acc|A4062T|5412|MUC4|protein_coding|CODING|ENST00000463781|exon_3_195505661_195518368 . . . 1/1:16:59,9,0 3 195506603 rs201602653 T C NON_SYNONYMOUS_CODING MUC4 MODERATE|MISSENSE|Acc/Gcc|T3950A|5360|MUC4|protein_coding|CODING|ENST00000475231|exon_3_195505661_195518368 . . . 1/1:6:67,3,0 3 195506603 rs201602653 T C NON_SYNONYMOUS_CODING MUC4 MODERATE|MISSENSE|Acc/Gcc|T3950A|5412|MUC4|protein_coding|CODING|ENST00000463781|exon_3_195505661_195518368 . . . 1/1:6:67,3,0 3 195506606 . C G NON_SYNONYMOUS_CODING MUC4 MODERATE|MISSENSE|Gac/Cac|D3949H|5360|MUC4|protein_coding|CODING|ENST00000475231|exon_3_195505661_195518368 . . . 1/1:6:60,3,0 3 195506606 . C G NON_SYNONYMOUS_CODING MUC4 MODERATE|MISSENSE|Gac/Cac|D3949H|5412|MUC4|protein_coding|CODING|ENST00000463781|exon_3_195505661_195518368 . . . 1/1:6:60,3,0 3 195507011 . G A NON_SYNONYMOUS_CODING MUC4 MODERATE|MISSENSE|Ctt/Ttt|L3814F|5360|MUC4|protein_coding|CODING|ENST00000475231|exon_3_195505661_195518368 0/1:93:90,0,233 . . . 3 195507011 . G A NON_SYNONYMOUS_CODING MUC4 MODERATE|MISSENSE|Ctt/Ttt|L3814F|5412|MUC4|protein_coding|CODING|ENST00000463781|exon_3_195505661_195518368 0/1:93:90,0,233 . . . 3 195507193 rs201474621 G A NON_SYNONYMOUS_CODING MUC4 MODERATE|MISSENSE|gCa/gTa|A3753V|5360|MUC4|protein_coding|CODING|ENST00000475231|exon_3_195505661_195518368 . . . 0/1:99:97,0,228 3 195507193 rs201474621 G A NON_SYNONYMOUS_CODING MUC4 MODERATE|MISSENSE|gCa/gTa|A3753V|5412|MUC4|protein_coding|CODING|ENST00000463781|exon_3_195505661_195518368 . . . 0/1:99:97,0,228 3 195507262 . T G NON_SYNONYMOUS_CODING MUC4 MODERATE|MISSENSE|cAt/cCt|H3730P|5360|MUC4|protein_coding|CODING|ENST00000475231|exon_3_195505661_195518368 0/1:75:72,0,255 0/1:69:66,0,255 . 0/1:99:140,0,253 3 195507262 . T G NON_SYNONYMOUS_CODING MUC4 MODERATE|MISSENSE|cAt/cCt|H3730P|5412|MUC4|protein_coding|CODING|ENST00000463781|exon_3_195505661_195518368 0/1:75:72,0,255 0/1:69:66,0,255 . 0/1:99:140,0,253 3 195507365 rs75737861 G A NON_SYNONYMOUS_CODING MUC4 MODERATE|MISSENSE|Cct/Tct|P3696S|5360|MUC4|protein_coding|CODING|ENST00000475231|exon_3_195505661_195518368 0/1:61:58,0,238 0/1:79:76,0,240 . 0/1:47:225,0,44 3 195507365 rs75737861 G A NON_SYNONYMOUS_CODING MUC4 MODERATE|MISSENSE|Cct/Tct|P3696S|5412|MUC4|protein_coding|CODING|ENST00000463781|exon_3_195505661_195518368 0/1:61:58,0,238 0/1:79:76,0,240 . 0/1:47:225,0,44 3 195507491 rs150551454 C T NON_SYNONYMOUS_CODING MUC4 MODERATE|MISSENSE|Gct/Act|A3654T|5360|MUC4|protein_coding|CODING|ENST00000475231|exon_3_195505661_195518368 . . . 0/1:56:58,0,54 3 195507491 rs150551454 C T NON_SYNONYMOUS_CODING MUC4 MODERATE|MISSENSE|Gct/Act|A3654T|5412|MUC4|protein_coding|CODING|ENST00000463781|exon_3_195505661_195518368 . . . 0/1:56:58,0,54 3 195507494 rs200217182 C T NON_SYNONYMOUS_CODING MUC4 MODERATE|MISSENSE|Gac/Aac|D3653N|5360|MUC4|protein_coding|CODING|ENST00000475231|exon_3_195505661_195518368 . . . 0/1:69:66,0,76 3 195507494 rs200217182 C T NON_SYNONYMOUS_CODING MUC4 MODERATE|MISSENSE|Gac/Aac|D3653N|5412|MUC4|protein_coding|CODING|ENST00000463781|exon_3_195505661_195518368 . . . 0/1:69:66,0,76 3 195507694 . A G NON_SYNONYMOUS_CODING MUC4 MODERATE|MISSENSE|cTt/cCt|L3586P|5360|MUC4|protein_coding|CODING|ENST00000475231|exon_3_195505661_195518368 . . . 1/1:12:75,7,0 3 195507694 . A G NON_SYNONYMOUS_CODING MUC4 MODERATE|MISSENSE|cTt/cCt|L3586P|5412|MUC4|protein_coding|CODING|ENST00000463781|exon_3_195505661_195518368 . . . 1/1:12:75,7,0 3 195508108 . G A NON_SYNONYMOUS_CODING MUC4 MODERATE|MISSENSE|tCa/tTa|S3448L|5360|MUC4|protein_coding|CODING|ENST00000475231|exon_3_195505661_195518368 . . . 0/1:92:89,0,242 3 195508108 . G A NON_SYNONYMOUS_CODING MUC4 MODERATE|MISSENSE|tCa/tTa|S3448L|5412|MUC4|protein_coding|CODING|ENST00000463781|exon_3_195505661_195518368 . . . 0/1:92:89,0,242 3 195508500 . G C NON_SYNONYMOUS_CODING MUC4 MODERATE|MISSENSE|gaC/gaG|D3317E|5360|MUC4|protein_coding|CODING|ENST00000475231|exon_3_195505661_195518368 . . . 0/1:19:71,0,16 3 195508500 . G C NON_SYNONYMOUS_CODING MUC4 MODERATE|MISSENSE|gaC/gaG|D3317E|5412|MUC4|protein_coding|CODING|ENST00000463781|exon_3_195505661_195518368 . . . 0/1:19:71,0,16 3 195509045 rs75309583 C G NON_SYNONYMOUS_CODING MUC4 MODERATE|MISSENSE|Gct/Cct|A3136P|5360|MUC4|protein_coding|CODING|ENST00000475231|exon_3_195505661_195518368 0/1:99:118,0,178 . . . 3 195509045 rs75309583 C G NON_SYNONYMOUS_CODING MUC4 MODERATE|MISSENSE|Gct/Cct|A3136P|5412|MUC4|protein_coding|CODING|ENST00000463781|exon_3_195505661_195518368 0/1:99:118,0,178 . . . 3 195509476 rs75221587 A G NON_SYNONYMOUS_CODING MUC4 MODERATE|MISSENSE|cTt/cCt|L2992P|5360|MUC4|protein_coding|CODING|ENST00000475231|exon_3_195505661_195518368 . 0/1:68:65,0,232 . 0/1:97:94,0,204 3 195509476 rs75221587 A G NON_SYNONYMOUS_CODING MUC4 MODERATE|MISSENSE|cTt/cCt|L2992P|5412|MUC4|protein_coding|CODING|ENST00000463781|exon_3_195505661_195518368 . 0/1:68:65,0,232 . 0/1:97:94,0,204 3 195510134 rs7375096 T C NON_SYNONYMOUS_CODING MUC4 MODERATE|MISSENSE|Aac/Gac|N2773D|5360|MUC4|protein_coding|CODING|ENST00000475231|exon_3_195505661_195518368 . 0/1:88:85,0,255 . 0/1:71:68,0,255 3 195510134 rs7375096 T C NON_SYNONYMOUS_CODING MUC4 MODERATE|MISSENSE|Aac/Gac|N2773D|5412|MUC4|protein_coding|CODING|ENST00000463781|exon_3_195505661_195518368 . 0/1:88:85,0,255 . 0/1:71:68,0,255 3 195510238 . A G NON_SYNONYMOUS_CODING MUC4 MODERATE|MISSENSE|cTt/cCt|L2738P|5360|MUC4|protein_coding|CODING|ENST00000475231|exon_3_195505661_195518368 . . . 0/1:45:62,0,42 3 195510238 . A G NON_SYNONYMOUS_CODING MUC4 MODERATE|MISSENSE|cTt/cCt|L2738P|5412|MUC4|protein_coding|CODING|ENST00000463781|exon_3_195505661_195518368 . . . 0/1:45:62,0,42 3 195510766 rs79949955 G T NON_SYNONYMOUS_CODING MUC4 MODERATE|MISSENSE|cCt/cAt|P2562H|5360|MUC4|protein_coding|CODING|ENST00000475231|exon_3_195505661_195518368 . . 0/1:86:83,0,238 . 3 195510766 rs79949955 G T NON_SYNONYMOUS_CODING MUC4 MODERATE|MISSENSE|cCt/cAt|P2562H|5412|MUC4|protein_coding|CODING|ENST00000463781|exon_3_195505661_195518368 . . 0/1:86:83,0,238 . 3 195511877 rs55824312 G A NON_SYNONYMOUS_CODING MUC4 MODERATE|MISSENSE|Cct/Tct|P2192S|5360|MUC4|protein_coding|CODING|ENST00000475231|exon_3_195505661_195518368 . . . 0/1:61:58,0,255 3 195511877 rs55824312 G A NON_SYNONYMOUS_CODING MUC4 MODERATE|MISSENSE|Cct/Tct|P2192S|5412|MUC4|protein_coding|CODING|ENST00000463781|exon_3_195505661_195518368 . . . 0/1:61:58,0,255 3 195512597 rs6799339 G A NON_SYNONYMOUS_CODING MUC4 MODERATE|MISSENSE|Cct/Tct|P1952S|5360|MUC4|protein_coding|CODING|ENST00000475231|exon_3_195505661_195518368 . 0/1:83:80,0,255 . 0/1:61:58,0,255 3 195512597 rs6799339 G A NON_SYNONYMOUS_CODING MUC4 MODERATE|MISSENSE|Cct/Tct|P1952S|5412|MUC4|protein_coding|CODING|ENST00000463781|exon_3_195505661_195518368 . 0/1:83:80,0,255 . 0/1:61:58,0,255 3 195513215 rs188798902 G C NON_SYNONYMOUS_CODING MUC4 MODERATE|MISSENSE|Ctt/Gtt|L1746V|5360|MUC4|protein_coding|CODING|ENST00000475231|exon_3_195505661_195518368 . 0/1:99:110,0,255 . . 3 195513215 rs188798902 G C NON_SYNONYMOUS_CODING MUC4 MODERATE|MISSENSE|Ctt/Gtt|L1746V|5412|MUC4|protein_coding|CODING|ENST00000463781|exon_3_195505661_195518368 . 0/1:99:110,0,255 . . 3 195513779 rs3103959 C T NON_SYNONYMOUS_CODING MUC4 MODERATE|MISSENSE|Gct/Act|A1558T|5360|MUC4|protein_coding|CODING|ENST00000475231|exon_3_195505661_195518368 0/1:68:65,0,164 . . 0/1:99:184,0,171 3 195513779 rs3103959 C T NON_SYNONYMOUS_CODING MUC4 MODERATE|MISSENSE|Gct/Act|A1558T|5412|MUC4|protein_coding|CODING|ENST00000463781|exon_3_195505661_195518368 0/1:68:65,0,164 . . 0/1:99:184,0,171 3 195514144 rs76816122 T C NON_SYNONYMOUS_CODING MUC4 MODERATE|MISSENSE|gAt/gGt|D1436G|5360|MUC4|protein_coding|CODING|ENST00000475231|exon_3_195505661_195518368 . . . 1/1:69:113,36,0 3 195514144 rs76816122 T C NON_SYNONYMOUS_CODING MUC4 MODERATE|MISSENSE|gAt/gGt|D1436G|5412|MUC4|protein_coding|CODING|ENST00000463781|exon_3_195505661_195518368 . . . 1/1:69:113,36,0 3 195514324 rs78009073 G A NON_SYNONYMOUS_CODING MUC4 MODERATE|MISSENSE|cCt/cTt|P1376L|5360|MUC4|protein_coding|CODING|ENST00000475231|exon_3_195505661_195518368 . . . 1/1:28:55,16,0 3 195514324 rs78009073 G A NON_SYNONYMOUS_CODING MUC4 MODERATE|MISSENSE|cCt/cTt|P1376L|5412|MUC4|protein_coding|CODING|ENST00000463781|exon_3_195505661_195518368 . . . 1/1:28:55,16,0 3 195514768 rs199530228 T C NON_SYNONYMOUS_CODING MUC4 MODERATE|MISSENSE|gAt/gGt|D1228G|5360|MUC4|protein_coding|CODING|ENST00000475231|exon_3_195505661_195518368 . . . 1/1:99:129,51,0 3 195514768 rs199530228 T C NON_SYNONYMOUS_CODING MUC4 MODERATE|MISSENSE|gAt/gGt|D1228G|5412|MUC4|protein_coding|CODING|ENST00000463781|exon_3_195505661_195518368 . . . 1/1:99:129,51,0 3 195514948 rs200751227 G A NON_SYNONYMOUS_CODING MUC4 MODERATE|MISSENSE|cCt/cTt|P1168L|5360|MUC4|protein_coding|CODING|ENST00000475231|exon_3_195505661_195518368 . . . 1/1:12:64,7,0 3 195514948 rs200751227 G A NON_SYNONYMOUS_CODING MUC4 MODERATE|MISSENSE|cCt/cTt|P1168L|5412|MUC4|protein_coding|CODING|ENST00000463781|exon_3_195505661_195518368 . . . 1/1:12:64,7,0 3 195515003 rs76196931 T C NON_SYNONYMOUS_CODING MUC4 MODERATE|MISSENSE|Acc/Gcc|T1150A|5360|MUC4|protein_coding|CODING|ENST00000475231|exon_3_195505661_195518368 . . . 1/1:39:107,21,0 3 195515003 rs76196931 T C NON_SYNONYMOUS_CODING MUC4 MODERATE|MISSENSE|Acc/Gcc|T1150A|5412|MUC4|protein_coding|CODING|ENST00000463781|exon_3_195505661_195518368 . . . 1/1:39:107,21,0 3 195515017 rs199883835 A G NON_SYNONYMOUS_CODING MUC4 MODERATE|MISSENSE|gTa/gCa|V1145A|5360|MUC4|protein_coding|CODING|ENST00000475231|exon_3_195505661_195518368 . . . 0/1:22:57,0,19 3 195515017 rs199883835 A G NON_SYNONYMOUS_CODING MUC4 MODERATE|MISSENSE|gTa/gCa|V1145A|5412|MUC4|protein_coding|CODING|ENST00000463781|exon_3_195505661_195518368 . . . 0/1:22:57,0,19 3 195515413 rs55868431 C T NON_SYNONYMOUS_CODING MUC4 MODERATE|MISSENSE|aGc/aAc|S1013N|5360|MUC4|protein_coding|CODING|ENST00000475231|exon_3_195505661_195518368 0/1:89:86,0,255 . . . 3 195515413 rs55868431 C T NON_SYNONYMOUS_CODING MUC4 MODERATE|MISSENSE|aGc/aAc|S1013N|5412|MUC4|protein_coding|CODING|ENST00000463781|exon_3_195505661_195518368 0/1:89:86,0,255 . . . 3 195515414 rs200193644 T C NON_SYNONYMOUS_CODING MUC4 MODERATE|MISSENSE|Agc/Ggc|S1013G|5360|MUC4|protein_coding|CODING|ENST00000475231|exon_3_195505661_195518368 0/1:99:98,0,255 . . . 3 195515414 rs200193644 T C NON_SYNONYMOUS_CODING MUC4 MODERATE|MISSENSE|Agc/Ggc|S1013G|5412|MUC4|protein_coding|CODING|ENST00000463781|exon_3_195505661_195518368 0/1:99:98,0,255 . . . 3 195515449 rs200672669 A T NON_SYNONYMOUS_CODING MUC4 MODERATE|MISSENSE|gTa/gAa|V1001E|5360|MUC4|protein_coding|CODING|ENST00000475231|exon_3_195505661_195518368 . . . 0/1:99:126,0,217 3 195515449 rs200672669 A T NON_SYNONYMOUS_CODING MUC4 MODERATE|MISSENSE|gTa/gAa|V1001E|5412|MUC4|protein_coding|CODING|ENST00000463781|exon_3_195505661_195518368 . . . 0/1:99:126,0,217 3 195516730 rs74547899 G A NON_SYNONYMOUS_CODING MUC4 MODERATE|MISSENSE|aCt/aTt|T548I|1912|MUC4|protein_coding|CODING|ENST00000392409|exon_3_195515489_195518372 . . . 0/1:99:254,0,255 3 195516730 rs74547899 G A NON_SYNONYMOUS_CODING MUC4 MODERATE|MISSENSE|aCt/aTt|T574I|5360|MUC4|protein_coding|CODING|ENST00000475231|exon_3_195505661_195518368 . . . 0/1:99:254,0,255 3 195516730 rs74547899 G A NON_SYNONYMOUS_CODING MUC4 MODERATE|MISSENSE|aCt/aTt|T574I|5412|MUC4|protein_coding|CODING|ENST00000463781|exon_3_195505661_195518368 . . . 0/1:99:254,0,255 3 195518002 rs189934289 T C NON_SYNONYMOUS_CODING MUC4 MODERATE|MISSENSE|aAc/aGc|N124S|1912|MUC4|protein_coding|CODING|ENST00000392409|exon_3_195515489_195518372 . 0/1:99:255,0,198 . . 3 195518002 rs189934289 T C NON_SYNONYMOUS_CODING MUC4 MODERATE|MISSENSE|aAc/aGc|N150S|5360|MUC4|protein_coding|CODING|ENST00000475231|exon_3_195505661_195518368 . 0/1:99:255,0,198 . . 3 195518002 rs189934289 T C NON_SYNONYMOUS_CODING MUC4 MODERATE|MISSENSE|aAc/aGc|N150S|5412|MUC4|protein_coding|CODING|ENST00000463781|exon_3_195505661_195518368 . 0/1:99:255,0,198 . . 3 195591056 rs13433937 C T NON_SYNONYMOUS_CODING TNK2 MODERATE|MISSENSE|cGc/cAc|R1038H|1038|TNK2|protein_coding|CODING|ENST00000333602|exon_3_195590235_195591058 . . . 0/1:99:252,0,255 3 195591056 rs13433937 C T NON_SYNONYMOUS_CODING TNK2 MODERATE|MISSENSE|cGc/cAc|R1038H|1038|TNK2|protein_coding|CODING|ENST00000392400|exon_3_195590236_195591058 . . . 0/1:99:252,0,255 3 195591056 rs13433937 C T NON_SYNONYMOUS_CODING TNK2 MODERATE|MISSENSE|cGc/cAc|R1040H|1040|TNK2|protein_coding|CODING|ENST00000428187|exon_3_195590236_195591058 . . . 0/1:99:252,0,255 3 195591056 rs13433937 C T NON_SYNONYMOUS_CODING TNK2 MODERATE|MISSENSE|cGc/cAc|R1086H|1086|TNK2|protein_coding|CODING|ENST00000381916|exon_3_195590235_195591058 . . . 0/1:99:252,0,255 3 195591056 rs13433937 C T NON_SYNONYMOUS_CODING TNK2 MODERATE|MISSENSE|cGc/cAc|R607H|607|TNK2|protein_coding|CODING|ENST00000416152|exon_3_195590235_195591058 . . . 0/1:99:252,0,255 3 195594494 rs112384084 C T NON_SYNONYMOUS_CODING TNK2 MODERATE|MISSENSE|cGt/cAt|R444H|607|TNK2|protein_coding|CODING|ENST00000416152|exon_3_195594232_195595580 . 0/1:79:222,0,76 . . 3 195594494 rs112384084 C T NON_SYNONYMOUS_CODING TNK2 MODERATE|MISSENSE|cGt/cAt|R877H|1038|TNK2|protein_coding|CODING|ENST00000333602|exon_3_195594232_195595580 . 0/1:79:222,0,76 . . 3 195594494 rs112384084 C T NON_SYNONYMOUS_CODING TNK2 MODERATE|MISSENSE|cGt/cAt|R877H|1038|TNK2|protein_coding|CODING|ENST00000392400|exon_3_195594232_195595580 . 0/1:79:222,0,76 . . 3 195594494 rs112384084 C T NON_SYNONYMOUS_CODING TNK2 MODERATE|MISSENSE|cGt/cAt|R909H|1040|TNK2|protein_coding|CODING|ENST00000428187|exon_3_195594232_195595580 . 0/1:79:222,0,76 . . 3 195594494 rs112384084 C T NON_SYNONYMOUS_CODING TNK2 MODERATE|MISSENSE|cGt/cAt|R955H|1086|TNK2|protein_coding|CODING|ENST00000381916|exon_3_195594232_195595580 . 0/1:79:222,0,76 . . 3 196046830 rs113750354 A G NON_SYNONYMOUS_CODING TM4SF19 MODERATE|MISSENSE|tTt/tCt|F280S|299|TM4SF19|protein_coding|CODING|ENST00000446879|exon_3_196046213_196046969 . . . 0/1:99:223,0,232 3 196050834 rs35643777 C T NON_SYNONYMOUS_CODING TM4SF19 MODERATE|MISSENSE|Gtc/Atc|V136I|183|TM4SF19|protein_coding|CODING|ENST00000454715|exon_3_196050420_196050868 . . . 0/1:99:243,0,255 3 196050834 rs35643777 C T NON_SYNONYMOUS_CODING TM4SF19 MODERATE|MISSENSE|Gtc/Atc|V162I|209|TM4SF19|protein_coding|CODING|ENST00000273695|exon_3_196050422_196050868 . . . 0/1:99:243,0,255 3 196098796 rs61742253 T C NON_SYNONYMOUS_CODING UBXN7 MODERATE|MISSENSE|Att/Gtt|I196V|489|UBXN7|protein_coding|CODING|ENST00000296328|exon_3_196098767_196098913 0/1:99:239,0,189 . . . 3 196098796 rs61742253 T C NON_SYNONYMOUS_CODING UBXN7 MODERATE|MISSENSE|Att/Gtt|I34V|327|UBXN7|protein_coding|CODING|ENST00000428095|exon_3_196098767_196098913 0/1:99:239,0,189 . . . 3 196098796 rs61742253 T C NON_SYNONYMOUS_CODING UBXN7 MODERATE|MISSENSE|Att/Gtt|I48V|341|UBXN7|protein_coding|CODING|ENST00000535858|exon_3_196098767_196098913 0/1:99:239,0,189 . . . 3 196674518 rs1147238 A G NON_SYNONYMOUS_CODING PIGZ MODERATE|MISSENSE|gTc/gCc|V417A|579|PIGZ|protein_coding|CODING|ENST00000412723|exon_3_196673214_196675556 0/1:99:220,0,251 0/1:99:212,0,204 . . 3 196736575 rs41284047 A G NON_SYNONYMOUS_CODING MFI2 MODERATE|MISSENSE|tTc/tCc|F480S|738|MFI2|protein_coding|CODING|ENST00000296350|exon_3_196736489_196736683 . . . 0/1:94:91,0,255 3 196865242 rs1134986 C T NON_SYNONYMOUS_CODING DLG1 MODERATE|MISSENSE|cGa/cAa|R162Q|788|DLG1|protein_coding|CODING|ENST00000452595|exon_3_196865093_196865262 0/1:99:246,0,255 0/1:99:250,0,255 . . 3 196865242 rs1134986 C T NON_SYNONYMOUS_CODING DLG1 MODERATE|MISSENSE|cGa/cAa|R162Q|800|DLG1|protein_coding|CODING|ENST00000443183|exon_3_196865093_196865262 0/1:99:246,0,255 0/1:99:250,0,255 . . 3 196865242 rs1134986 C T NON_SYNONYMOUS_CODING DLG1 MODERATE|MISSENSE|cGa/cAa|R227Q|853|DLG1|protein_coding|CODING|ENST00000314062|exon_3_196865093_196865262 0/1:99:246,0,255 0/1:99:250,0,255 . . 3 196865242 rs1134986 C T NON_SYNONYMOUS_CODING DLG1 MODERATE|MISSENSE|cGa/cAa|R227Q|853|DLG1|protein_coding|CODING|ENST00000422288|exon_3_196865093_196865262 0/1:99:246,0,255 0/1:99:250,0,255 . . 3 196865242 rs1134986 C T NON_SYNONYMOUS_CODING DLG1 MODERATE|MISSENSE|cGa/cAa|R245Q|871|DLG1|protein_coding|CODING|ENST00000392382|exon_3_196865093_196865262 0/1:99:246,0,255 0/1:99:250,0,255 . . 3 196865242 rs1134986 C T NON_SYNONYMOUS_CODING DLG1 MODERATE|MISSENSE|cGa/cAa|R245Q|893|DLG1|protein_coding|CODING|ENST00000357674|exon_3_196865093_196865262 0/1:99:246,0,255 0/1:99:250,0,255 . . 3 196865242 rs1134986 C T NON_SYNONYMOUS_CODING DLG1 MODERATE|MISSENSE|cGa/cAa|R245Q|893|DLG1|protein_coding|CODING|ENST00000450955|exon_3_196865093_196865262 0/1:99:246,0,255 0/1:99:250,0,255 . . 3 196865242 rs1134986 C T NON_SYNONYMOUS_CODING DLG1 MODERATE|MISSENSE|cGa/cAa|R278Q|891|DLG1|protein_coding|CODING|ENST00000381807|exon_3_196865093_196865262 0/1:99:246,0,255 0/1:99:250,0,255 . . 3 196865242 rs1134986 C T NON_SYNONYMOUS_CODING DLG1 MODERATE|MISSENSE|cGa/cAa|R278Q|904|DLG1|protein_coding|CODING|ENST00000419354|exon_3_196865093_196865262 0/1:99:246,0,255 0/1:99:250,0,255 . . 3 196865242 rs1134986 C T NON_SYNONYMOUS_CODING DLG1 MODERATE|MISSENSE|cGa/cAa|R278Q|904|DLG1|protein_coding|CODING|ENST00000448528|exon_3_196865093_196865262 0/1:99:246,0,255 0/1:99:250,0,255 . . 3 196865242 rs1134986 C T NON_SYNONYMOUS_CODING DLG1 MODERATE|MISSENSE|cGa/cAa|R278Q|917|DLG1|protein_coding|CODING|ENST00000359922|exon_3_196865093_196865262 0/1:99:246,0,255 0/1:99:250,0,255 . . 3 196865242 rs1134986 C T NON_SYNONYMOUS_CODING DLG1 MODERATE|MISSENSE|cGa/cAa|R278Q|926|DLG1|protein_coding|CODING|ENST00000346964|exon_3_196865093_196865262 0/1:99:246,0,255 0/1:99:250,0,255 . . 3 196865242 rs1134986 C T NON_SYNONYMOUS_CODING DLG1 MODERATE|MISSENSE|cGa/cAa|R87Q|285|DLG1|protein_coding|CODING|ENST00000447466|exon_3_196865093_196865262 0/1:99:246,0,255 0/1:99:250,0,255 . . 3 197432036 rs61743568 C T NON_SYNONYMOUS_CODING KIAA0226 MODERATE|MISSENSE|cGc/cAc|R17H|927|KIAA0226|protein_coding|CODING|ENST00000273582|exon_3_197431963_197432046 . 0/1:99:170,0,255 . . 3 197432036 rs61743568 C T NON_SYNONYMOUS_CODING KIAA0226 MODERATE|MISSENSE|cGc/cAc|R77H|435|KIAA0226|protein_coding|CODING|ENST00000449205|exon_3_197431963_197432046 . 0/1:99:170,0,255 . . 3 197432036 rs61743568 C T NON_SYNONYMOUS_CODING KIAA0226 MODERATE|MISSENSE|cGc/cAc|R77H|921|KIAA0226|protein_coding|CODING|ENST00000389665|exon_3_197431963_197432046 . 0/1:99:170,0,255 . . 3 197432036 rs61743568 C T NON_SYNONYMOUS_CODING KIAA0226 MODERATE|MISSENSE|cGc/cAc|R77H|972|KIAA0226|protein_coding|CODING|ENST00000296343|exon_3_197431963_197432046 . 0/1:99:170,0,255 . . 3 197503802 rs144055089 C T NON_SYNONYMOUS_CODING FYTTD1 MODERATE|MISSENSE|Cgg/Tgg|R130W|227|FYTTD1|protein_coding|CODING|ENST00000428395|exon_3_197503798_197503872 . . . 0/1:99:255,0,255 3 197503802 rs144055089 C T NON_SYNONYMOUS_CODING FYTTD1 MODERATE|MISSENSE|Cgg/Tgg|R154W|175|FYTTD1|protein_coding|CODING|ENST00000428738|exon_3_197503798_197503872 . . . 0/1:99:255,0,255 3 197503802 rs144055089 C T NON_SYNONYMOUS_CODING FYTTD1 MODERATE|MISSENSE|Cgg/Tgg|R154W|251|FYTTD1|protein_coding|CODING|ENST00000424384|exon_3_197503798_197503872 . . . 0/1:99:255,0,255 3 197503802 rs144055089 C T NON_SYNONYMOUS_CODING FYTTD1 MODERATE|MISSENSE|Cgg/Tgg|R195W|292|FYTTD1|protein_coding|CODING|ENST00000415708|exon_3_197503798_197503872 . . . 0/1:99:255,0,255 3 197503802 rs144055089 C T NON_SYNONYMOUS_CODING FYTTD1 MODERATE|MISSENSE|Cgg/Tgg|R221W|318|FYTTD1|protein_coding|CODING|ENST00000241502|exon_3_197503798_197503872 . . . 0/1:99:255,0,255 3 197579466 rs36078463 C T NON_SYNONYMOUS_CODING LRCH3 MODERATE|MISSENSE|cCg/cTg|P117L|372|LRCH3|protein_coding|CODING|ENST00000536618|exon_3_197579432_197579491 . 0/1:99:217,0,255 . . 3 197579466 rs36078463 C T NON_SYNONYMOUS_CODING LRCH3 MODERATE|MISSENSE|cCg/cTg|P19L|214|LRCH3|protein_coding|CODING|ENST00000433298|exon_3_197579432_197579491 . 0/1:99:217,0,255 . . 3 197579466 rs36078463 C T NON_SYNONYMOUS_CODING LRCH3 MODERATE|MISSENSE|cCg/cTg|P33L|226|LRCH3|protein_coding|CODING|ENST00000452660|exon_3_197579432_197579491 . 0/1:99:217,0,255 . . 3 197579466 rs36078463 C T NON_SYNONYMOUS_CODING LRCH3 MODERATE|MISSENSE|cCg/cTg|P368L|623|LRCH3|protein_coding|CODING|ENST00000441090|exon_3_197579432_197579491 . 0/1:99:217,0,255 . . 3 197579466 rs36078463 C T NON_SYNONYMOUS_CODING LRCH3 MODERATE|MISSENSE|cCg/cTg|P494L|725|LRCH3|protein_coding|CODING|ENST00000414675|exon_3_197579432_197579491 . 0/1:99:217,0,255 . . 3 197579466 rs36078463 C T NON_SYNONYMOUS_CODING LRCH3 MODERATE|MISSENSE|cCg/cTg|P522L|712|LRCH3|protein_coding|CODING|ENST00000334859|exon_3_197579432_197579491 . 0/1:99:217,0,255 . . 3 197579466 rs36078463 C T NON_SYNONYMOUS_CODING LRCH3 MODERATE|MISSENSE|cCg/cTg|P522L|777|LRCH3|protein_coding|CODING|ENST00000425562|exon_3_197579432_197579491 . 0/1:99:217,0,255 . . 3 197579466 rs36078463 C T NON_SYNONYMOUS_CODING LRCH3 MODERATE|MISSENSE|cCg/cTg|P522L|803|LRCH3|protein_coding|CODING|ENST00000438796|exon_3_197579432_197579491 . 0/1:99:217,0,255 . . 3 197659160 rs67877771 C G NON_SYNONYMOUS_CODING IQCG MODERATE|MISSENSE|Gat/Cat|D158H|197|IQCG|protein_coding|CODING|ENST00000416896|exon_3_197659045_197659173 . 0/1:99:237,0,255 . 0/1:99:255,0,255 3 197659160 rs67877771 C G NON_SYNONYMOUS_CODING IQCG MODERATE|MISSENSE|Gat/Cat|D177H|310|IQCG|protein_coding|CODING|ENST00000453254|exon_3_197659045_197659173 . 0/1:99:237,0,255 . 0/1:99:255,0,255 3 197659160 rs67877771 C G NON_SYNONYMOUS_CODING IQCG MODERATE|MISSENSE|Gat/Cat|D177H|443|IQCG|protein_coding|CODING|ENST00000265239|exon_3_197659045_197659173 . 0/1:99:237,0,255 . 0/1:99:255,0,255 3 197659160 rs67877771 C G NON_SYNONYMOUS_CODING IQCG MODERATE|MISSENSE|Gat/Cat|D177H|443|IQCG|protein_coding|CODING|ENST00000455191|exon_3_197659045_197659173 . 0/1:99:237,0,255 . 0/1:99:255,0,255 3 197665599 rs9880989 G T NON_SYNONYMOUS_CODING IQCG MODERATE|MISSENSE|gCc/gAc|A112D|310|IQCG|protein_coding|CODING|ENST00000453254|exon_3_197665419_197665651 . 0/1:99:255,0,255 . 0/1:99:249,0,255 3 197665599 rs9880989 G T NON_SYNONYMOUS_CODING IQCG MODERATE|MISSENSE|gCc/gAc|A112D|443|IQCG|protein_coding|CODING|ENST00000265239|exon_3_197665419_197665651 . 0/1:99:255,0,255 . 0/1:99:249,0,255 3 197665599 rs9880989 G T NON_SYNONYMOUS_CODING IQCG MODERATE|MISSENSE|gCc/gAc|A112D|443|IQCG|protein_coding|CODING|ENST00000455191|exon_3_197665419_197665651 . 0/1:99:255,0,255 . 0/1:99:249,0,255 3 197665599 rs9880989 G T NON_SYNONYMOUS_CODING IQCG MODERATE|MISSENSE|gCc/gAc|A93D|197|IQCG|protein_coding|CODING|ENST00000416896|exon_3_197665419_197665651 . 0/1:99:255,0,255 . 0/1:99:249,0,255 3 197894694 rs61793575 G A NON_SYNONYMOUS_CODING FAM157A MODERATE|MISSENSE|Gct/Act|A346T|383|FAM157A|protein_coding|CODING|ENST00000431569|exon_3_197894547_197894742 . 0/1:99:103,0,162 . 0/1:63:60,0,255 3 197894713 rs61793576 A G NON_SYNONYMOUS_CODING FAM157A MODERATE|MISSENSE|gAg/gGg|E352G|383|FAM157A|protein_coding|CODING|ENST00000431569|exon_3_197894547_197894742 . 0/1:71:68,0,207 . 0/1:56:53,0,255 4 67752 . C G NON_SYNONYMOUS_CODING ZNF595 MODERATE|MISSENSE|Ctt/Gtt|L83V|85|ZNF595|protein_coding|CODING|ENST00000509152|exon_4_67732_68392 0/1:99:133,0,255 . . . 4 628493 rs115775983 G A NON_SYNONYMOUS_CODING PDE6B MODERATE|MISSENSE|Gag/Aag|E166K|853|PDE6B|protein_coding|CODING|ENST00000255622|exon_4_628466_628618 . . . 0/1:99:98,0,248 4 628493 rs115775983 G A NON_SYNONYMOUS_CODING PDE6B MODERATE|MISSENSE|Gag/Aag|E166K|854|PDE6B|protein_coding|CODING|ENST00000496514|exon_4_628466_628618 . . . 0/1:99:98,0,248 4 673772 rs61748885 C T NON_SYNONYMOUS_CODING MYL5 MODERATE|MISSENSE|aCc/aTc|T45I|132|MYL5|protein_coding|CODING|ENST00000505477|exon_4_673703_673807 0/1:99:168,0,180 . . . 4 673772 rs61748885 C T NON_SYNONYMOUS_CODING MYL5 MODERATE|MISSENSE|aCc/aTc|T45I|132|MYL5|protein_coding|CODING|ENST00000506838|exon_4_673703_673807 0/1:99:168,0,180 . . . 4 673772 rs61748885 C T NON_SYNONYMOUS_CODING MYL5 MODERATE|MISSENSE|aCc/aTc|T45I|132|MYL5|protein_coding|CODING|ENST00000511290|exon_4_673703_673807 0/1:99:168,0,180 . . . 4 673772 rs61748885 C T NON_SYNONYMOUS_CODING MYL5 MODERATE|MISSENSE|aCc/aTc|T86I|173|MYL5|protein_coding|CODING|ENST00000400159|exon_4_673703_673807 0/1:99:168,0,180 . . . 4 673772 rs61748885 C T NON_SYNONYMOUS_CODING MYL5 MODERATE|MISSENSE|aCc/aTc|T91I|125|MYL5|protein_coding|CODING|ENST00000507804|exon_4_673703_673807 0/1:99:168,0,180 . . . 4 843720 rs2306242 T C NON_SYNONYMOUS_CODING GAK MODERATE|MISSENSE|aAg/aGg|K1186R|1232|GAK|protein_coding|CODING|ENST00000511163|exon_4_843680_843856 0/1:68:249,0,65 . . . 4 843720 rs2306242 T C NON_SYNONYMOUS_CODING GAK MODERATE|MISSENSE|aAg/aGg|K1265R|1311|GAK|protein_coding|CODING|ENST00000314167|exon_4_843680_843856 0/1:68:249,0,65 . . . 4 843720 rs2306242 T C NON_SYNONYMOUS_CODING GAK MODERATE|MISSENSE|aAg/aGg|K541R|587|GAK|protein_coding|CODING|ENST00000398567|exon_4_843680_843856 0/1:68:249,0,65 . . . 4 981684 rs148775298 C G NON_SYNONYMOUS_CODING IDUA MODERATE|MISSENSE|caC/caG|H82Q|653|IDUA|protein_coding|CODING|ENST00000247933|exon_4_981597_981737 . 0/1:99:236,0,171 . . 4 1087393 rs616196 G T NON_SYNONYMOUS_CODING RNF212 MODERATE|MISSENSE|gCc/gAc|A219D|273|RNF212|protein_coding|CODING|ENST00000333673|exon_4_1087096_1087802 . . 0/1:99:130,0,185 0/1:99:153,0,140 4 1087531 rs615381 T C NON_SYNONYMOUS_CODING RNF212 MODERATE|MISSENSE|cAg/cGg|Q173R|273|RNF212|protein_coding|CODING|ENST00000333673|exon_4_1087096_1087802 . . 0/1:99:209,0,255 0/1:99:225,0,188 4 1087617 rs614945 C A NON_SYNONYMOUS_CODING RNF212 MODERATE|MISSENSE|caG/caT|Q144H|273|RNF212|protein_coding|CODING|ENST00000333673|exon_4_1087096_1087802 . . 0/1:80:77,0,169 0/1:99:202,0,230 4 1165748 rs6836335 T C NON_SYNONYMOUS_CODING SPON2 MODERATE|MISSENSE|Aga/Gga|R38G|107|SPON2|protein_coding|CODING|ENST00000503765|exon_4_1165640_1165862 . . 0/1:99:169,0,229 0/1:90:87,0,206 4 1165748 rs6836335 T C NON_SYNONYMOUS_CODING SPON2 MODERATE|MISSENSE|Aga/Gga|R38G|331|SPON2|protein_coding|CODING|ENST00000290902|exon_4_1165640_1165862 . . 0/1:99:169,0,229 0/1:90:87,0,206 4 1165748 rs6836335 T C NON_SYNONYMOUS_CODING SPON2 MODERATE|MISSENSE|Aga/Gga|R38G|331|SPON2|protein_coding|CODING|ENST00000431380|exon_4_1165640_1165862 . . 0/1:99:169,0,229 0/1:90:87,0,206 4 1165748 rs6836335 T C NON_SYNONYMOUS_CODING SPON2 MODERATE|MISSENSE|Aga/Gga|R38G|60|SPON2|protein_coding|CODING|ENST00000502483|exon_4_1165677_1165862 . . 0/1:99:169,0,229 0/1:90:87,0,206 4 1165748 rs6836335 T C NON_SYNONYMOUS_CODING SPON2 MODERATE|MISSENSE|Aga/Gga|R38G|63|SPON2|protein_coding|CODING|ENST00000515004|exon_4_1165667_1165862 . . 0/1:99:169,0,229 0/1:90:87,0,206 4 1388759 rs112233131 C T NON_SYNONYMOUS_CODING CRIPAK MODERATE|MISSENSE|Cgg/Tgg|R154W|446|CRIPAK|protein_coding|CODING|ENST00000324803|exon_4_1385340_1389780 . . 0/1:80:77,0,121 . 4 1388759 rs112233131 C T NON_SYNONYMOUS_CODING CRIPAK MODERATE|MISSENSE|gCg/gTg|A137V|388|CRIPAK|protein_coding|CODING|ENST00000382944|exon_4_1388626_1388842 . . 0/1:80:77,0,121 . 4 1656850 rs62287701 G A NON_SYNONYMOUS_CODING FAM53A MODERATE|MISSENSE|aCg/aTg|T246M|360|FAM53A|protein_coding|CODING|ENST00000489363|exon_4_1656705_1657450 . . . 0/1:99:161,0,215 4 1656850 rs62287701 G A NON_SYNONYMOUS_CODING FAM53A MODERATE|MISSENSE|aCg/aTg|T246M|398|FAM53A|protein_coding|CODING|ENST00000308132|exon_4_1656705_1657450 . . . 0/1:99:161,0,215 4 1656850 rs62287701 G A NON_SYNONYMOUS_CODING FAM53A MODERATE|MISSENSE|aCg/aTg|T246M|398|FAM53A|protein_coding|CODING|ENST00000461064|exon_4_1656705_1657450 . . . 0/1:99:161,0,215 4 1656850 rs62287701 G A NON_SYNONYMOUS_CODING FAM53A MODERATE|MISSENSE|aCg/aTg|T246M|398|FAM53A|protein_coding|CODING|ENST00000472884|exon_4_1656705_1657450 . . . 0/1:99:161,0,215 4 1729887 rs139849008 G T NON_SYNONYMOUS_CODING TACC3 MODERATE|MISSENSE|gGt/gTt|G253V|838|TACC3|protein_coding|CODING|ENST00000313288|exon_4_1729435_1730514 0/1:99:209,0,232 . . . 4 1843324 rs116753949 C T NON_SYNONYMOUS_CODING LETM1 MODERATE|MISSENSE|cGc/cAc|R115H|739|LETM1|protein_coding|CODING|ENST00000302787|exon_4_1843074_1843524 0/1:99:236,0,225 . . . 4 1843324 rs116753949 C T NON_SYNONYMOUS_CODING LETM1 MODERATE|MISSENSE|cGc/cAc|R75H|251|LETM1|protein_coding|CODING|ENST00000417150|exon_4_1843074_1843524 0/1:99:236,0,225 . . . 4 2828992 rs35313240 C T NON_SYNONYMOUS_CODING SH3BP2 MODERATE|MISSENSE|gCa/gTa|A155V|171|SH3BP2|protein_coding|CODING|ENST00000504294|exon_4_2828957_2829045 . . 0/1:99:126,0,255 . 4 2828992 rs35313240 C T NON_SYNONYMOUS_CODING SH3BP2 MODERATE|MISSENSE|gCa/gTa|A155V|187|SH3BP2|protein_coding|CODING|ENST00000508385|exon_4_2828957_2829045 . . 0/1:99:126,0,255 . 4 2828992 rs35313240 C T NON_SYNONYMOUS_CODING SH3BP2 MODERATE|MISSENSE|gCa/gTa|A155V|193|SH3BP2|protein_coding|CODING|ENST00000512014|exon_4_2828957_2829045 . . 0/1:99:126,0,255 . 4 2828992 rs35313240 C T NON_SYNONYMOUS_CODING SH3BP2 MODERATE|MISSENSE|gCa/gTa|A155V|561|SH3BP2|protein_coding|CODING|ENST00000356331|exon_4_2828957_2829045 . . 0/1:99:126,0,255 . 4 2828992 rs35313240 C T NON_SYNONYMOUS_CODING SH3BP2 MODERATE|MISSENSE|gCa/gTa|A155V|561|SH3BP2|protein_coding|CODING|ENST00000435136|exon_4_2828957_2829045 . . 0/1:99:126,0,255 . 4 2828992 rs35313240 C T NON_SYNONYMOUS_CODING SH3BP2 MODERATE|MISSENSE|gCa/gTa|A155V|561|SH3BP2|protein_coding|CODING|ENST00000452765|exon_4_2828957_2829045 . . 0/1:99:126,0,255 . 4 2828992 rs35313240 C T NON_SYNONYMOUS_CODING SH3BP2 MODERATE|MISSENSE|gCa/gTa|A155V|561|SH3BP2|protein_coding|CODING|ENST00000511747|exon_4_2828957_2829045 . . 0/1:99:126,0,255 . 4 2828992 rs35313240 C T NON_SYNONYMOUS_CODING SH3BP2 MODERATE|MISSENSE|gCa/gTa|A183V|589|SH3BP2|protein_coding|CODING|ENST00000442312|exon_4_2828957_2829045 . . 0/1:99:126,0,255 . 4 2828992 rs35313240 C T NON_SYNONYMOUS_CODING SH3BP2 MODERATE|MISSENSE|gCa/gTa|A212V|618|SH3BP2|protein_coding|CODING|ENST00000503393|exon_4_2828957_2829045 . . 0/1:99:126,0,255 . 4 2967062 rs148108008 A G NON_SYNONYMOUS_CODING GRK4 MODERATE|MISSENSE|Atg/Gtg|M49V|84|GRK4|protein_coding|CODING|ENST00000503518|exon_4_2966970_2968577 0/1:99:230,0,207 . . . 4 2967062 rs148108008 A G NON_SYNONYMOUS_CODING GRK4 MODERATE|MISSENSE|cAt/cGt|H78R|134|GRK4|protein_coding|CODING|ENST00000442472|exon_4_2966970_2967725 0/1:99:230,0,207 . . . 4 3015553 rs1140085 G A NON_SYNONYMOUS_CODING GRK4 MODERATE|MISSENSE|Gta/Ata|V215I|500|GRK4|protein_coding|CODING|ENST00000398051|exon_4_3015415_3015555 . 0/1:99:242,0,255 . . 4 3015553 rs1140085 G A NON_SYNONYMOUS_CODING GRK4 MODERATE|MISSENSE|Gta/Ata|V215I|546|GRK4|protein_coding|CODING|ENST00000345167|exon_4_3015415_3015555 . 0/1:99:242,0,255 . . 4 3015553 rs1140085 G A NON_SYNONYMOUS_CODING GRK4 MODERATE|MISSENSE|Gta/Ata|V247I|532|GRK4|protein_coding|CODING|ENST00000504933|exon_4_3015415_3015555 . 0/1:99:242,0,255 . . 4 3015553 rs1140085 G A NON_SYNONYMOUS_CODING GRK4 MODERATE|MISSENSE|Gta/Ata|V247I|578|GRK4|protein_coding|CODING|ENST00000398052|exon_4_3015415_3015555 . 0/1:99:242,0,255 . . 4 3076659 . A C NON_SYNONYMOUS_CODING HTT MODERATE|MISSENSE|cAg/cCg|Q36P|3142|HTT|protein_coding|CODING|ENST00000355072|exon_4_3076408_3076815 . 0/1:55:52,0,63 . . 4 3076665 rs61792466 A C NON_SYNONYMOUS_CODING HTT MODERATE|MISSENSE|cAg/cCg|Q38P|3142|HTT|protein_coding|CODING|ENST00000355072|exon_4_3076408_3076815 . 0/1:28:51,0,25 . . 4 3494884 rs144158112 G A NON_SYNONYMOUS_CODING DOK7 MODERATE|MISSENSE|Ggg/Agg|G391R|504|DOK7|protein_coding|CODING|ENST00000340083|exon_4_3494486_3496210 . . 0/1:99:237,0,201 . 4 3494884 rs144158112 G A NON_SYNONYMOUS_CODING DOK7 MODERATE|MISSENSE|Ggg/Agg|G391R|608|DOK7|protein_coding|CODING|ENST00000389653|exon_4_3494486_3495210 . . 0/1:99:237,0,201 . 4 3590829 . CACA C CODON_CHANGE_PLUS_CODON_DELETION RP3-368B9.1.1 MODERATE||acacac/acc|TH105T|194|RP3-368B9.1.1|protein_coding|CODING|ENST00000514422|exon_4_3590661_3591731 . . . 0/1:70:197,0,67 4 3590829 . CACA C CODON_DELETION RP3-368B9.1.1 MODERATE||aca/-|T105-|175|RP3-368B9.1.1|protein_coding|CODING|ENST00000404649|exon_4_3590827_3592170 . . . 0/1:70:197,0,67 4 3590830 . ACAC A CODON_CHANGE_PLUS_CODON_DELETION RP3-368B9.1.1 MODERATE||acacac/aac|TH105N|175|RP3-368B9.1.1|protein_coding|CODING|ENST00000404649|exon_4_3590827_3592170 0/1:99:167,0,255 . . . 4 3590830 . ACAC A CODON_DELETION RP3-368B9.1.1 MODERATE||cac/-|H106-|194|RP3-368B9.1.1|protein_coding|CODING|ENST00000514422|exon_4_3590661_3591731 0/1:99:167,0,255 . . . 4 4199083 rs34666677 T G NON_SYNONYMOUS_CODING OTOP1 MODERATE|MISSENSE|aAg/aCg|K493T|612|OTOP1|protein_coding|CODING|ENST00000296358|exon_4_4198893_4199830 . . 0/1:99:231,0,213 . 4 4247938 rs13135886 T C NON_SYNONYMOUS_CODING TMEM128 MODERATE|MISSENSE|cAc/cGc|H53R|141|TMEM128|protein_coding|CODING|ENST00000254742|exon_4_4247929_4248070 . . 0/1:99:255,0,255 . 4 4247938 rs13135886 T C NON_SYNONYMOUS_CODING TMEM128 MODERATE|MISSENSE|cAc/cGc|H77R|132|TMEM128|protein_coding|CODING|ENST00000538516|exon_4_4247929_4248070 . . 0/1:99:255,0,255 . 4 4247938 rs13135886 T C NON_SYNONYMOUS_CODING TMEM128 MODERATE|MISSENSE|cAc/cGc|H77R|165|TMEM128|protein_coding|CODING|ENST00000382753|exon_4_4247929_4248070 . . 0/1:99:255,0,255 . 4 4247938 rs13135886 T C NON_SYNONYMOUS_CODING TMEM128 MODERATE|MISSENSE|cAc/cGc|H77R|165|TMEM128|protein_coding|CODING|ENST00000540397|exon_4_4247929_4248070 . . 0/1:99:255,0,255 . 4 4436517 rs33952588 A T NON_SYNONYMOUS_CODING STX18 MODERATE|MISSENSE|Tcc/Acc|S147T|168|STX18|protein_coding|CODING|ENST00000507908|exon_4_4436497_4436585 . . . 0/1:99:247,0,255 4 4436517 rs33952588 A T NON_SYNONYMOUS_CODING STX18 MODERATE|MISSENSE|Tcc/Acc|S147T|172|STX18|protein_coding|CODING|ENST00000512195|exon_4_4436497_4436585 . . . 0/1:99:247,0,255 4 4436517 rs33952588 A T NON_SYNONYMOUS_CODING STX18 MODERATE|MISSENSE|Tcc/Acc|S228T|308|STX18|protein_coding|CODING|ENST00000505286|exon_4_4436497_4436585 . . . 0/1:99:247,0,255 4 4436517 rs33952588 A T NON_SYNONYMOUS_CODING STX18 MODERATE|MISSENSE|Tcc/Acc|S228T|335|STX18|protein_coding|CODING|ENST00000306200|exon_4_4436497_4436585 . . . 0/1:99:247,0,255 4 4440183 rs61740788 T G NON_SYNONYMOUS_CODING STX18 MODERATE|MISSENSE|gAg/gCg|E103A|168|STX18|protein_coding|CODING|ENST00000507908|exon_4_4440121_4440236 . . . 0/1:99:255,0,206 4 4440183 rs61740788 T G NON_SYNONYMOUS_CODING STX18 MODERATE|MISSENSE|gAg/gCg|E103A|172|STX18|protein_coding|CODING|ENST00000512195|exon_4_4440121_4440236 . . . 0/1:99:255,0,206 4 4440183 rs61740788 T G NON_SYNONYMOUS_CODING STX18 MODERATE|MISSENSE|gAg/gCg|E184A|308|STX18|protein_coding|CODING|ENST00000505286|exon_4_4440121_4440236 . . . 0/1:99:255,0,206 4 4440183 rs61740788 T G NON_SYNONYMOUS_CODING STX18 MODERATE|MISSENSE|gAg/gCg|E184A|335|STX18|protein_coding|CODING|ENST00000306200|exon_4_4440121_4440236 . . . 0/1:99:255,0,206 4 4861745 rs36059701 C G NON_SYNONYMOUS_CODING MSX1 MODERATE|MISSENSE|gCa/gGa|A40G|303|MSX1|protein_coding|CODING|ENST00000382723|exon_4_4861393_4862095 . . . 0/1:59:56,0,98 4 5021021 rs35755546 G A NON_SYNONYMOUS_CODING CYTL1 MODERATE|MISSENSE|tCg/tTg|S51L|136|CYTL1|protein_coding|CODING|ENST00000307746|exon_4_5021020_5021199 0/1:99:152,0,255 . . . 4 5461848 rs146714972 G A NON_SYNONYMOUS_CODING STK32B MODERATE|MISSENSE|Gag/Aag|E191K|337|STK32B|protein_coding|CODING|ENST00000512636|exon_4_5461830_5461955 0/1:99:255,0,255 . . . 4 5461848 rs146714972 G A NON_SYNONYMOUS_CODING STK32B MODERATE|MISSENSE|Gag/Aag|E221K|367|STK32B|protein_coding|CODING|ENST00000510398|exon_4_5461830_5461955 0/1:99:255,0,255 . . . 4 5461848 rs146714972 G A NON_SYNONYMOUS_CODING STK32B MODERATE|MISSENSE|Gag/Aag|E268K|414|STK32B|protein_coding|CODING|ENST00000282908|exon_4_5461830_5461955 0/1:99:255,0,255 . . . 4 5544870 . C T NON_SYNONYMOUS_CODING EVC2 MODERATE|MISSENSE|atG/atA|M1243I|1246|EVC2|protein_coding|CODING|ENST00000344938|exon_4_5544858_5544939 0/1:99:231,0,255 . . . 4 5800491 rs201776972 G A NON_SYNONYMOUS_CODING EVC MODERATE|MISSENSE|aGc/aAc|S759N|992|EVC|protein_coding|CODING|ENST00000264956|exon_4_5800313_5800519 0/1:99:203,0,232 . . . 4 5800491 rs201776972 G A NON_SYNONYMOUS_CODING EVC MODERATE|MISSENSE|aGc/aAc|S759N|992|EVC|protein_coding|CODING|ENST00000382674|exon_4_5800313_5800519 0/1:99:203,0,232 . . . 4 5975547 rs115926780 G A NON_SYNONYMOUS_CODING C4orf50 MODERATE|MISSENSE|Cgg/Tgg|R557W|750|C4orf50|protein_coding|CODING|ENST00000531445|exon_4_5975386_5975568 . 0/1:99:179,0,241 0/1:99:249,0,200 . 4 5975547 rs115926780 G A NON_SYNONYMOUS_CODING C4orf50 MODERATE|MISSENSE|Cgg/Tgg|R83W|276|C4orf50|protein_coding|CODING|ENST00000324058|exon_4_5975386_5975568 . 0/1:99:179,0,241 0/1:99:249,0,200 . 4 6610889 rs61733402 G A NON_SYNONYMOUS_CODING MAN2B2 MODERATE|MISSENSE|Ggg/Agg|G573R|958|MAN2B2|protein_coding|CODING|ENST00000504248|exon_4_6610834_6611025 0/1:99:255,0,131 . . . 4 6610889 rs61733402 G A NON_SYNONYMOUS_CODING MAN2B2 MODERATE|MISSENSE|Ggg/Agg|G624R|1009|MAN2B2|protein_coding|CODING|ENST00000285599|exon_4_6610834_6611025 0/1:99:255,0,131 . . . 4 6616056 rs61729241 C T NON_SYNONYMOUS_CODING MAN2B2 MODERATE|MISSENSE|aCg/aTg|T841M|958|MAN2B2|protein_coding|CODING|ENST00000504248|exon_4_6615945_6616082 . . . 0/1:73:255,0,70 4 6616056 rs61729241 C T NON_SYNONYMOUS_CODING MAN2B2 MODERATE|MISSENSE|aCg/aTg|T892M|1009|MAN2B2|protein_coding|CODING|ENST00000285599|exon_4_6615945_6616082 . . . 0/1:73:255,0,70 4 6878458 . G A NON_SYNONYMOUS_CODING KIAA0232 MODERATE|MISSENSE|Gaa/Aaa|E1328K|1395|KIAA0232|protein_coding|CODING|ENST00000307659|exon_4_6878387_6878484 . . 0/1:99:174,0,255 . 4 6878458 . G A NON_SYNONYMOUS_CODING KIAA0232 MODERATE|MISSENSE|Gaa/Aaa|E1328K|1395|KIAA0232|protein_coding|CODING|ENST00000425103|exon_4_6878387_6878484 . . 0/1:99:174,0,255 . 4 7435058 rs60816800 C T NON_SYNONYMOUS_CODING PSAPL1 MODERATE|MISSENSE|Gct/Act|A517T|521|PSAPL1|protein_coding|CODING|ENST00000319098|exon_4_7432022_7436700 . 0/1:99:255,0,147 . . 4 7435721 rs6850206 C T NON_SYNONYMOUS_CODING PSAPL1 MODERATE|MISSENSE|Gtg/Atg|V296M|521|PSAPL1|protein_coding|CODING|ENST00000319098|exon_4_7432022_7436700 . 0/1:99:216,0,236 . . 4 7436239 rs56402179 C T NON_SYNONYMOUS_CODING PSAPL1 MODERATE|MISSENSE|cGt/cAt|R123H|521|PSAPL1|protein_coding|CODING|ENST00000319098|exon_4_7432022_7436700 . 0/1:99:255,0,165 . . 4 7666180 rs35935435 C A NON_SYNONYMOUS_CODING SORCS2 MODERATE|MISSENSE|gaC/gaA|D179E|1002|SORCS2|protein_coding|CODING|ENST00000329016|exon_4_7666080_7666198 . 0/1:99:218,0,228 . . 4 7666180 rs35935435 C A NON_SYNONYMOUS_CODING SORCS2 MODERATE|MISSENSE|gaC/gaA|D351E|1159|SORCS2|protein_coding|CODING|ENST00000507866|exon_4_7666080_7666198 . 0/1:99:218,0,228 . . 4 7780582 rs41264705 C T NON_SYNONYMOUS_CODING AFAP1 MODERATE|MISSENSE|Gtg/Atg|V518M|730|AFAP1|protein_coding|CODING|ENST00000358461|exon_4_7780489_7780603 0/1:99:255,0,255 0/1:99:255,0,203 0/1:99:255,0,242 0/1:99:253,0,255 4 7780582 rs41264705 C T NON_SYNONYMOUS_CODING AFAP1 MODERATE|MISSENSE|Gtg/Atg|V518M|730|AFAP1|protein_coding|CODING|ENST00000360265|exon_4_7780489_7780603 0/1:99:255,0,255 0/1:99:255,0,203 0/1:99:255,0,242 0/1:99:253,0,255 4 7780582 rs41264705 C T NON_SYNONYMOUS_CODING AFAP1 MODERATE|MISSENSE|Gtg/Atg|V602M|814|AFAP1|protein_coding|CODING|ENST00000382543|exon_4_7780489_7780603 0/1:99:255,0,255 0/1:99:255,0,203 0/1:99:255,0,242 0/1:99:253,0,255 4 7780582 rs41264705 C T NON_SYNONYMOUS_CODING AFAP1 MODERATE|MISSENSE|Gtg/Atg|V602M|814|AFAP1|protein_coding|CODING|ENST00000420658|exon_4_7780489_7780603 0/1:99:255,0,255 0/1:99:255,0,203 0/1:99:255,0,242 0/1:99:253,0,255 4 7802227 rs28406288 G C NON_SYNONYMOUS_CODING AFAP1 MODERATE|MISSENSE|tCt/tGt|S403C|730|AFAP1|protein_coding|CODING|ENST00000358461|exon_4_7802169_7802380 . . . 0/1:99:233,0,209 4 7802227 rs28406288 G C NON_SYNONYMOUS_CODING AFAP1 MODERATE|MISSENSE|tCt/tGt|S403C|730|AFAP1|protein_coding|CODING|ENST00000360265|exon_4_7802169_7802380 . . . 0/1:99:233,0,209 4 7802227 rs28406288 G C NON_SYNONYMOUS_CODING AFAP1 MODERATE|MISSENSE|tCt/tGt|S403C|814|AFAP1|protein_coding|CODING|ENST00000382543|exon_4_7802169_7802380 . . . 0/1:99:233,0,209 4 7802227 rs28406288 G C NON_SYNONYMOUS_CODING AFAP1 MODERATE|MISSENSE|tCt/tGt|S403C|814|AFAP1|protein_coding|CODING|ENST00000420658|exon_4_7802169_7802380 . . . 0/1:99:233,0,209 4 8228943 rs34994651 G A NON_SYNONYMOUS_CODING SH3TC1 MODERATE|MISSENSE|Gcc/Acc|A246T|822|SH3TC1|protein_coding|CODING|ENST00000382516|exon_4_8228707_8230371 . . 0/1:99:231,0,237 . 4 8228943 rs34994651 G A NON_SYNONYMOUS_CODING SH3TC1 MODERATE|MISSENSE|Gcc/Acc|A337T|1064|SH3TC1|protein_coding|CODING|ENST00000535265|exon_4_8228707_8230371 . . 0/1:99:231,0,237 . 4 8228943 rs34994651 G A NON_SYNONYMOUS_CODING SH3TC1 MODERATE|MISSENSE|Gcc/Acc|A432T|1260|SH3TC1|protein_coding|CODING|ENST00000539824|exon_4_8228707_8230371 . . 0/1:99:231,0,237 . 4 8228943 rs34994651 G A NON_SYNONYMOUS_CODING SH3TC1 MODERATE|MISSENSE|Gcc/Acc|A508T|1336|SH3TC1|protein_coding|CODING|ENST00000245105|exon_4_8228707_8230371 . . 0/1:99:231,0,237 . 4 8588986 rs11941659 G A NON_SYNONYMOUS_CODING GPR78 MODERATE|MISSENSE|Gcc/Acc|A330T|363|GPR78|protein_coding|CODING|ENST00000382487|exon_4_8588781_8589275 . . . 0/1:99:238,0,187 4 9213569 rs190696563 T C NON_SYNONYMOUS_CODING RP11-1286E23.5.1 MODERATE|MISSENSE|gTa/gCa|V396A|530|RP11-1286E23.5.1|protein_coding|CODING|ENST00000417945|exon_4_9212383_9213975 0/1:79:76,0,209 . . . 4 9213802 rs187262693 C G NON_SYNONYMOUS_CODING RP11-1286E23.5.1 MODERATE|MISSENSE|Cgg/Ggg|R474G|530|RP11-1286E23.5.1|protein_coding|CODING|ENST00000417945|exon_4_9212383_9213975 0/1:55:52,0,230 . . . 4 9255112 . A C NON_SYNONYMOUS_CODING RP11-1286E23.14.1 MODERATE|MISSENSE|gaA/gaC|E3D|530|RP11-1286E23.14.1|protein_coding|CODING|ENST00000515566|exon_4_9255104_9256696 . . 1/1:21:60,12,0 . 4 9922170 rs73225891 C G NON_SYNONYMOUS_CODING SLC2A9 MODERATE|MISSENSE|Gac/Cac|D252H|511|SLC2A9|protein_coding|CODING|ENST00000309065|exon_4_9922009_9922196 . . 0/1:99:255,0,199 . 4 9922170 rs73225891 C G NON_SYNONYMOUS_CODING SLC2A9 MODERATE|MISSENSE|Gac/Cac|D252H|511|SLC2A9|protein_coding|CODING|ENST00000506583|exon_4_9922009_9922196 . . 0/1:99:255,0,199 . 4 9922170 rs73225891 C G NON_SYNONYMOUS_CODING SLC2A9 MODERATE|MISSENSE|Gac/Cac|D281H|540|SLC2A9|protein_coding|CODING|ENST00000264784|exon_4_9922009_9922196 . . 0/1:99:255,0,199 . 4 10027542 rs6820230 C T NON_SYNONYMOUS_CODING SLC2A9 MODERATE|MISSENSE|Gcg/Acg|A17T|197|SLC2A9|protein_coding|CODING|ENST00000513129|exon_4_10027528_10027630 0/1:99:194,0,236 . 1/1:99:255,105,0 . 4 10027542 rs6820230 C T NON_SYNONYMOUS_CODING SLC2A9 MODERATE|MISSENSE|Gcg/Acg|A17T|511|SLC2A9|protein_coding|CODING|ENST00000309065|exon_4_10027528_10027630 0/1:99:194,0,236 . 1/1:99:255,105,0 . 4 10027542 rs6820230 C T NON_SYNONYMOUS_CODING SLC2A9 MODERATE|MISSENSE|Gcg/Acg|A17T|511|SLC2A9|protein_coding|CODING|ENST00000506583|exon_4_10027528_10027630 0/1:99:194,0,236 . 1/1:99:255,105,0 . 4 10094671 rs3822247 G A NON_SYNONYMOUS_CODING WDR1 MODERATE|MISSENSE|tCg/tTg|S20L|441|WDR1|protein_coding|CODING|ENST00000439733|exon_4_10094667_10094779 0/1:99:255,0,254 . 1/1:99:255,63,0 . 4 10445207 rs75487798 T C NON_SYNONYMOUS_CODING ZNF518B MODERATE|MISSENSE|Att/Gtt|I916V|1074|ZNF518B|protein_coding|CODING|ENST00000326756|exon_4_10441498_10448163 . . 0/1:99:255,0,255 . 4 10447762 . T C NON_SYNONYMOUS_CODING ZNF518B MODERATE|MISSENSE|aAa/aGa|K64R|1074|ZNF518B|protein_coding|CODING|ENST00000326756|exon_4_10441498_10448163 . 0/1:99:212,0,255 . . 4 10447762 . T C NON_SYNONYMOUS_CODING ZNF518B MODERATE|MISSENSE|aAa/aGa|K64R|74|ZNF518B|protein_coding|CODING|ENST00000507515|exon_4_10447726_10448163 . 0/1:99:212,0,255 . . 4 17492326 rs112209600 C G NON_SYNONYMOUS_CODING QDPR MODERATE|MISSENSE|gaG/gaC|E165D|213|QDPR|protein_coding|CODING|ENST00000428702|exon_4_17492285_17492368 . . 0/1:99:255,0,222 . 4 17492326 rs112209600 C G NON_SYNONYMOUS_CODING QDPR MODERATE|MISSENSE|gaG/gaC|E196D|244|QDPR|protein_coding|CODING|ENST00000281243|exon_4_17492285_17492368 . . 0/1:99:255,0,222 . 4 17805379 rs7690457 G A NON_SYNONYMOUS_CODING DCAF16 MODERATE|MISSENSE|aCa/aTa|T129I|216|DCAF16|protein_coding|CODING|ENST00000382247|exon_4_17802278_17806394 . 0/1:99:255,0,255 . . 4 17805379 rs7690457 G A NON_SYNONYMOUS_CODING DCAF16 MODERATE|MISSENSE|aCa/aTa|T129I|216|DCAF16|protein_coding|CODING|ENST00000536863|exon_4_17804948_17806394 . 0/1:99:255,0,255 . . 4 17829990 rs3795243 G C NON_SYNONYMOUS_CODING NCAPG MODERATE|MISSENSE|atG/atC|M146I|268|NCAPG|protein_coding|CODING|ENST00000510063|exon_4_17829901_17830011 0/1:99:255,0,255 . 0/1:99:255,0,255 . 4 17829990 rs3795243 G C NON_SYNONYMOUS_CODING NCAPG MODERATE|MISSENSE|atG/atC|M581I|1015|NCAPG|protein_coding|CODING|ENST00000251496|exon_4_17829901_17830011 0/1:99:255,0,255 . 0/1:99:255,0,255 . 4 20709465 . A G NON_SYNONYMOUS_CODING PACRGL MODERATE|MISSENSE|Att/Gtt|I131V|244|PACRGL|protein_coding|CODING|ENST00000510051|exon_4_20709426_20709493 0/1:99:255,0,221 . . . 4 20709465 . A G NON_SYNONYMOUS_CODING PACRGL MODERATE|MISSENSE|Att/Gtt|I83V|101|PACRGL|protein_coding|CODING|ENST00000514663|exon_4_20709426_20709493 0/1:99:255,0,221 . . . 4 20709465 . A G NON_SYNONYMOUS_CODING PACRGL MODERATE|MISSENSE|Att/Gtt|I83V|121|PACRGL|protein_coding|CODING|ENST00000514485|exon_4_20709426_20709493 0/1:99:255,0,221 . . . 4 20709465 . A G NON_SYNONYMOUS_CODING PACRGL MODERATE|MISSENSE|Att/Gtt|I83V|135|PACRGL|protein_coding|CODING|ENST00000509469|exon_4_20709426_20709493 0/1:99:255,0,221 . . . 4 20709465 . A G NON_SYNONYMOUS_CODING PACRGL MODERATE|MISSENSE|Att/Gtt|I83V|202|PACRGL|protein_coding|CODING|ENST00000513590|exon_4_20709426_20709493 0/1:99:255,0,221 . . . 4 20709465 . A G NON_SYNONYMOUS_CODING PACRGL MODERATE|MISSENSE|Att/Gtt|I83V|221|PACRGL|protein_coding|CODING|ENST00000295290|exon_4_20709426_20709493 0/1:99:255,0,221 . . . 4 20709465 . A G NON_SYNONYMOUS_CODING PACRGL MODERATE|MISSENSE|Att/Gtt|I83V|221|PACRGL|protein_coding|CODING|ENST00000360916|exon_4_20709426_20709493 0/1:99:255,0,221 . . . 4 20709465 . A G NON_SYNONYMOUS_CODING PACRGL MODERATE|MISSENSE|Att/Gtt|I83V|221|PACRGL|protein_coding|CODING|ENST00000507634|exon_4_20709426_20709493 0/1:99:255,0,221 . . . 4 20709465 . A G NON_SYNONYMOUS_CODING PACRGL MODERATE|MISSENSE|Att/Gtt|I83V|248|PACRGL|protein_coding|CODING|ENST00000503585|exon_4_20709426_20709493 0/1:99:255,0,221 . . . 4 20709465 . A G NON_SYNONYMOUS_CODING PACRGL MODERATE|MISSENSE|Att/Gtt|I83V|83|PACRGL|protein_coding|CODING|ENST00000506745|exon_4_20709426_20709472 0/1:99:255,0,221 . . . 4 20709465 . A G NON_SYNONYMOUS_CODING PACRGL MODERATE|MISSENSE|Att/Gtt|I83V|90|PACRGL|protein_coding|CODING|ENST00000504630|exon_4_20709426_20709493 0/1:99:255,0,221 . . . 4 22404353 rs200151762 T C NON_SYNONYMOUS_CODING GPR125 MODERATE|MISSENSE|Atc/Gtc|I768V|1321|GPR125|protein_coding|CODING|ENST00000334304|exon_4_22404298_22404422 0/1:99:255,0,255 . . . 4 24896658 rs12511068 C T NON_SYNONYMOUS_CODING CCDC149 MODERATE|MISSENSE|Gtc/Atc|V7I|529|CCDC149|protein_coding|CODING|ENST00000389609|exon_4_24896614_24896740 . . 0/1:99:255,0,255 . 4 25315754 rs144236014 G C NON_SYNONYMOUS_CODING ZCCHC4 MODERATE|MISSENSE|Gac/Cac|D48H|127|ZCCHC4|protein_coding|CODING|ENST00000450254|exon_4_25315668_25315786 . . . 0/1:99:246,0,181 4 25315754 rs144236014 G C NON_SYNONYMOUS_CODING ZCCHC4 MODERATE|MISSENSE|Gac/Cac|D72H|513|ZCCHC4|protein_coding|CODING|ENST00000302874|exon_4_25315668_25315786 . . . 0/1:99:246,0,181 4 25408838 rs34811474 G A NON_SYNONYMOUS_CODING ANAPC4 MODERATE|MISSENSE|cGa/cAa|R465Q|808|ANAPC4|protein_coding|CODING|ENST00000315368|exon_4_25408819_25408875 . . 1/1:99:255,117,0 0/1:99:246,0,255 4 25408838 rs34811474 G A NON_SYNONYMOUS_CODING ANAPC4 MODERATE|MISSENSE|cGa/cAa|R466Q|809|ANAPC4|protein_coding|CODING|ENST00000510092|exon_4_25408819_25408875 . . 1/1:99:255,117,0 0/1:99:246,0,255 4 25779416 rs115865625 G T NON_SYNONYMOUS_CODING SEL1L3 MODERATE|MISSENSE|Ctg/Atg|L76M|77|SEL1L3|protein_coding|CODING|ENST00000514321|exon_4_25779238_25779513 . . . 0/1:99:231,0,255 4 25915826 rs6448414 G A NON_SYNONYMOUS_CODING C4orf52 MODERATE|MISSENSE|aGc/aAc|S65N|168|C4orf52|protein_coding|CODING|ENST00000412980|exon_4_25915818_25916044 . 0/1:99:150,0,192 . . 4 38138856 rs13110318 G A NON_SYNONYMOUS_CODING TBC1D1 MODERATE|MISSENSE|cGg/cAg|R1127Q|1159|TBC1D1|protein_coding|CODING|ENST00000508802|exon_4_38138756_38139240 . . . 0/1:99:247,0,199 4 38138856 rs13110318 G A NON_SYNONYMOUS_CODING TBC1D1 MODERATE|MISSENSE|cGg/cAg|R1136Q|1168|TBC1D1|protein_coding|CODING|ENST00000261439|exon_4_38138756_38140794 . . . 0/1:99:247,0,199 4 38138856 rs13110318 G A NON_SYNONYMOUS_CODING TBC1D1 MODERATE|MISSENSE|cGg/cAg|R400Q|432|TBC1D1|protein_coding|CODING|ENST00000454732|exon_4_38138756_38139364 . . . 0/1:99:247,0,199 4 38774889 rs4129009 T C NON_SYNONYMOUS_CODING TLR10 MODERATE|MISSENSE|Att/Gtt|I775V|811|TLR10|protein_coding|CODING|ENST00000308973|exon_4_38773860_38777273 . . 0/1:99:156,0,222 . 4 38774889 rs4129009 T C NON_SYNONYMOUS_CODING TLR10 MODERATE|MISSENSE|Att/Gtt|I775V|811|TLR10|protein_coding|CODING|ENST00000361424|exon_4_38774263_38777273 . . 0/1:99:156,0,222 . 4 38774889 rs4129009 T C NON_SYNONYMOUS_CODING TLR10 MODERATE|MISSENSE|Att/Gtt|I775V|811|TLR10|protein_coding|CODING|ENST00000506111|exon_4_38774234_38777273 . . 0/1:99:156,0,222 . 4 38774889 rs4129009 T C NON_SYNONYMOUS_CODING TLR10 MODERATE|MISSENSE|Att/Gtt|I775V|811|TLR10|protein_coding|CODING|ENST00000508334|exon_4_38774746_38777273 . . 0/1:99:156,0,222 . 4 38830116 rs3796508 C T NON_SYNONYMOUS_CODING TLR6 MODERATE|MISSENSE|Gtg/Atg|V327M|480|TLR6|protein_coding|CODING|ENST00000508542|exon_4_38829947_38831120 0/1:99:192,0,246 . . . 4 38830116 rs3796508 C T NON_SYNONYMOUS_CODING TLR6 MODERATE|MISSENSE|Gtg/Atg|V327M|796|TLR6|protein_coding|CODING|ENST00000381950|exon_4_38828223_38831160 0/1:99:192,0,246 . . . 4 38830116 rs3796508 C T NON_SYNONYMOUS_CODING TLR6 MODERATE|MISSENSE|Gtg/Atg|V327M|796|TLR6|protein_coding|CODING|ENST00000436693|exon_4_38825336_38831158 0/1:99:192,0,246 . . . 4 38830736 rs5743808 A G NON_SYNONYMOUS_CODING TLR6 MODERATE|MISSENSE|aTt/aCt|I120T|149|TLR6|protein_coding|CODING|ENST00000508254|exon_4_38830644_38831158 0/1:99:255,0,255 . . . 4 38830736 rs5743808 A G NON_SYNONYMOUS_CODING TLR6 MODERATE|MISSENSE|aTt/aCt|I120T|480|TLR6|protein_coding|CODING|ENST00000508542|exon_4_38829947_38831120 0/1:99:255,0,255 . . . 4 38830736 rs5743808 A G NON_SYNONYMOUS_CODING TLR6 MODERATE|MISSENSE|aTt/aCt|I120T|796|TLR6|protein_coding|CODING|ENST00000381950|exon_4_38828223_38831160 0/1:99:255,0,255 . . . 4 38830736 rs5743808 A G NON_SYNONYMOUS_CODING TLR6 MODERATE|MISSENSE|aTt/aCt|I120T|796|TLR6|protein_coding|CODING|ENST00000436693|exon_4_38825336_38831158 0/1:99:255,0,255 . . . 4 39448672 . CTCTTC CTC CODON_DELETION KLB MODERATE||ttc/-|F777-|1044|KLB|protein_coding|CODING|ENST00000257408|exon_4_39447952_39449095 . . . 0/1:99:255,0,184 4 40103817 rs61748746 G A NON_SYNONYMOUS_CODING N4BP2 MODERATE|MISSENSE|Gaa/Aaa|E118K|1770|N4BP2|protein_coding|CODING|ENST00000261435|exon_4_40103695_40104838 . . 0/1:99:248,0,223 . 4 40103817 rs61748746 G A NON_SYNONYMOUS_CODING N4BP2 MODERATE|MISSENSE|Gaa/Aaa|E38K|1690|N4BP2|protein_coding|CODING|ENST00000381804|exon_4_40103698_40104838 . . 0/1:99:248,0,223 . 4 40103817 rs61748746 G A NON_SYNONYMOUS_CODING N4BP2 MODERATE|MISSENSE|Gaa/Aaa|E38K|172|N4BP2|protein_coding|CODING|ENST00000515550|exon_4_40103695_40104226 . . 0/1:99:248,0,223 . 4 40104739 rs62621880 C A NON_SYNONYMOUS_CODING N4BP2 MODERATE|MISSENSE|aCc/aAc|T345N|1690|N4BP2|protein_coding|CODING|ENST00000381804|exon_4_40103698_40104838 . . . 0/1:99:255,0,189 4 40104739 rs62621880 C A NON_SYNONYMOUS_CODING N4BP2 MODERATE|MISSENSE|aCc/aAc|T425N|1770|N4BP2|protein_coding|CODING|ENST00000261435|exon_4_40103695_40104838 . . . 0/1:99:255,0,189 4 40123790 rs61748749 T G NON_SYNONYMOUS_CODING N4BP2 MODERATE|MISSENSE|agT/agG|S1273R|1690|N4BP2|protein_coding|CODING|ENST00000381804|exon_4_40121552_40123929 . . 0/1:99:255,0,249 . 4 40123790 rs61748749 T G NON_SYNONYMOUS_CODING N4BP2 MODERATE|MISSENSE|agT/agG|S1353R|1770|N4BP2|protein_coding|CODING|ENST00000261435|exon_4_40121552_40123929 . . 0/1:99:255,0,249 . 4 41672759 rs2289342 C T NON_SYNONYMOUS_CODING LIMCH1 MODERATE|MISSENSE|cCg/cTg|P585L|910|LIMCH1|protein_coding|CODING|ENST00000513024|exon_4_41672735_41672809 . . . 0/1:99:255,0,213 4 41672759 rs2289342 C T NON_SYNONYMOUS_CODING LIMCH1 MODERATE|MISSENSE|cCg/cTg|P744L|1069|LIMCH1|protein_coding|CODING|ENST00000512820|exon_4_41672735_41672809 . . . 0/1:99:255,0,213 4 42122289 rs144453545 T C NON_SYNONYMOUS_CODING BEND4 MODERATE|MISSENSE|aAc/aGc|N261S|405|BEND4|protein_coding|CODING|ENST00000411720|exon_4_42122071_42122311 . 0/1:99:255,0,255 . . 4 42122289 rs144453545 T C NON_SYNONYMOUS_CODING BEND4 MODERATE|MISSENSE|aAc/aGc|N386S|437|BEND4|protein_coding|CODING|ENST00000504360|exon_4_42122142_42122311 . 0/1:99:255,0,255 . . 4 42122289 rs144453545 T C NON_SYNONYMOUS_CODING BEND4 MODERATE|MISSENSE|aAc/aGc|N390S|534|BEND4|protein_coding|CODING|ENST00000502486|exon_4_42122071_42122311 . 0/1:99:255,0,255 . . 4 42895423 rs57655409 C T NON_SYNONYMOUS_CODING GRXCR1 MODERATE|MISSENSE|gCc/gTc|A47V|290|GRXCR1|protein_coding|CODING|ENST00000399770|exon_4_42895284_42895667 0/1:99:182,0,255 . . . 4 47538044 rs35012290 G A NON_SYNONYMOUS_CODING ATP10D MODERATE|MISSENSE|Gca/Aca|A337T|1426|ATP10D|protein_coding|CODING|ENST00000273859|exon_4_47537919_47538050 0/1:99:255,0,255 . . . 4 47538044 rs35012290 G A NON_SYNONYMOUS_CODING ATP10D MODERATE|MISSENSE|Gca/Aca|A337T|535|ATP10D|protein_coding|CODING|ENST00000504445|exon_4_47537919_47538050 0/1:99:255,0,255 . . . 4 47570876 rs17462252 G A NON_SYNONYMOUS_CODING ATP10D MODERATE|MISSENSE|aGc/aAc|S959N|1426|ATP10D|protein_coding|CODING|ENST00000273859|exon_4_47570854_47571163 . . 0/1:99:255,0,255 . 4 47896315 rs149138345 A G NON_SYNONYMOUS_CODING NFXL1 MODERATE|MISSENSE|gTg/gCg|V445A|733|NFXL1|protein_coding|CODING|ENST00000329043|exon_4_47896197_47896319 0/1:99:255,0,255 . . . 4 47896315 rs149138345 A G NON_SYNONYMOUS_CODING NFXL1 MODERATE|MISSENSE|gTg/gCg|V445A|911|NFXL1|protein_coding|CODING|ENST00000381538|exon_4_47896197_47896319 0/1:99:255,0,255 . . . 4 47896315 rs149138345 A G NON_SYNONYMOUS_CODING NFXL1 MODERATE|MISSENSE|gTg/gCg|V445A|911|NFXL1|protein_coding|CODING|ENST00000507489|exon_4_47896197_47896319 0/1:99:255,0,255 . . . 4 48082095 rs11724347 C T NON_SYNONYMOUS_CODING TXK MODERATE|MISSENSE|cGg/cAg|R336Q|527|TXK|protein_coding|CODING|ENST00000264316|exon_4_48081929_48082145 . 0/1:99:255,0,255 . . 4 52948557 rs184617860 C T NON_SYNONYMOUS_CODING SPATA18 MODERATE|MISSENSE|Cgc/Tgc|R422C|506|SPATA18|protein_coding|CODING|ENST00000419395|exon_4_52948553_52948676 0/1:99:226,0,219 . . . 4 52948557 rs184617860 C T NON_SYNONYMOUS_CODING SPATA18 MODERATE|MISSENSE|Cgc/Tgc|R454C|538|SPATA18|protein_coding|CODING|ENST00000295213|exon_4_52948553_52948676 0/1:99:226,0,219 . . . 4 55127448 rs36035373 G A NON_SYNONYMOUS_CODING PDGFRA MODERATE|MISSENSE|gGc/gAc|G104D|146|PDGFRA|protein_coding|CODING|ENST00000512143|exon_4_55127262_55127579 . . 0/1:99:198,0,255 . 4 55127448 rs36035373 G A NON_SYNONYMOUS_CODING PDGFRA MODERATE|MISSENSE|gGc/gAc|G79D|1089|PDGFRA|protein_coding|CODING|ENST00000257290|exon_4_55127262_55127579 . . 0/1:99:198,0,255 . 4 55127448 rs36035373 G A NON_SYNONYMOUS_CODING PDGFRA MODERATE|MISSENSE|gGc/gAc|G79D|153|PDGFRA|protein_coding|CODING|ENST00000512522|exon_4_55127262_55127579 . . 0/1:99:198,0,255 . 4 55127448 rs36035373 G A NON_SYNONYMOUS_CODING PDGFRA MODERATE|MISSENSE|gGc/gAc|G79D|157|PDGFRA|protein_coding|CODING|ENST00000504461|exon_4_55127262_55127579 . . 0/1:99:198,0,255 . 4 55127448 rs36035373 G A NON_SYNONYMOUS_CODING PDGFRA MODERATE|MISSENSE|gGc/gAc|G79D|158|PDGFRA|protein_coding|CODING|ENST00000503856|exon_4_55127262_55127579 . . 0/1:99:198,0,255 . 4 55127448 rs36035373 G A NON_SYNONYMOUS_CODING PDGFRA MODERATE|MISSENSE|gGc/gAc|G79D|218|PDGFRA|protein_coding|CODING|ENST00000508170|exon_4_55127262_55127579 . . 0/1:99:198,0,255 . 4 56502307 rs3828555 G T NON_SYNONYMOUS_CODING NMU MODERATE|MISSENSE|gCg/gAg|A18E|147|NMU|protein_coding|CODING|ENST00000505262|exon_4_56502248_56502426 . 0/1:99:232,0,169 . . 4 56502307 rs3828555 G T NON_SYNONYMOUS_CODING NMU MODERATE|MISSENSE|gCg/gAg|A18E|149|NMU|protein_coding|CODING|ENST00000507338|exon_4_56502248_56502435 . 0/1:99:232,0,169 . . 4 56502307 rs3828555 G T NON_SYNONYMOUS_CODING NMU MODERATE|MISSENSE|gCg/gAg|A18E|157|NMU|protein_coding|CODING|ENST00000541393|exon_4_56502248_56502465 . 0/1:99:232,0,169 . . 4 56502307 rs3828555 G T NON_SYNONYMOUS_CODING NMU MODERATE|MISSENSE|gCg/gAg|A18E|158|NMU|protein_coding|CODING|ENST00000511469|exon_4_56502248_56502451 . 0/1:99:232,0,169 . . 4 56502307 rs3828555 G T NON_SYNONYMOUS_CODING NMU MODERATE|MISSENSE|gCg/gAg|A18E|174|NMU|protein_coding|CODING|ENST00000264218|exon_4_56502248_56502465 . 0/1:99:232,0,169 . . 4 56502331 . C T NON_SYNONYMOUS_CODING NMU MODERATE|MISSENSE|aGg/aAg|R10K|147|NMU|protein_coding|CODING|ENST00000505262|exon_4_56502248_56502426 0/1:99:160,0,139 . . . 4 56502331 . C T NON_SYNONYMOUS_CODING NMU MODERATE|MISSENSE|aGg/aAg|R10K|149|NMU|protein_coding|CODING|ENST00000507338|exon_4_56502248_56502435 0/1:99:160,0,139 . . . 4 56502331 . C T NON_SYNONYMOUS_CODING NMU MODERATE|MISSENSE|aGg/aAg|R10K|157|NMU|protein_coding|CODING|ENST00000541393|exon_4_56502248_56502465 0/1:99:160,0,139 . . . 4 56502331 . C T NON_SYNONYMOUS_CODING NMU MODERATE|MISSENSE|aGg/aAg|R10K|158|NMU|protein_coding|CODING|ENST00000511469|exon_4_56502248_56502451 0/1:99:160,0,139 . . . 4 56502331 . C T NON_SYNONYMOUS_CODING NMU MODERATE|MISSENSE|aGg/aAg|R10K|174|NMU|protein_coding|CODING|ENST00000264218|exon_4_56502248_56502465 0/1:99:160,0,139 . . . 4 56820412 rs77591659 G A NON_SYNONYMOUS_CODING CEP135 MODERATE|MISSENSE|cGt/cAt|R112H|1140|CEP135|protein_coding|CODING|ENST00000257287|exon_4_56820382_56820549 . . 0/1:99:242,0,255 . 4 56820412 rs77591659 G A NON_SYNONYMOUS_CODING CEP135 MODERATE|MISSENSE|cGt/cAt|R112H|249|CEP135|protein_coding|CODING|ENST00000422247|exon_4_56820382_56820549 . . 0/1:99:242,0,255 . 4 56847510 rs144041768 A G NON_SYNONYMOUS_CODING CEP135 MODERATE|MISSENSE|Atg/Gtg|M582V|1140|CEP135|protein_coding|CODING|ENST00000257287|exon_4_56847393_56847545 . . . 0/1:99:255,0,255 4 57215969 rs61978622 C T NON_SYNONYMOUS_CODING AASDH MODERATE|MISSENSE|Gac/Aac|D165N|613|AASDH|protein_coding|CODING|ENST00000434343|exon_4_57215429_57216224 . 0/1:99:255,0,255 . . 4 57215969 rs61978622 C T NON_SYNONYMOUS_CODING AASDH MODERATE|MISSENSE|Gac/Aac|D497N|789|AASDH|protein_coding|CODING|ENST00000503808|exon_4_57215429_57216224 . 0/1:99:255,0,255 . . 4 57215969 rs61978622 C T NON_SYNONYMOUS_CODING AASDH MODERATE|MISSENSE|Gac/Aac|D550N|998|AASDH|protein_coding|CODING|ENST00000513376|exon_4_57215429_57216224 . 0/1:99:255,0,255 . . 4 57215969 rs61978622 C T NON_SYNONYMOUS_CODING AASDH MODERATE|MISSENSE|Gac/Aac|D650N|1098|AASDH|protein_coding|CODING|ENST00000205214|exon_4_57215429_57216224 . 0/1:99:255,0,255 . . 4 57215969 rs61978622 C T NON_SYNONYMOUS_CODING AASDH MODERATE|MISSENSE|Gac/Aac|D650N|841|AASDH|protein_coding|CODING|ENST00000502617|exon_4_57215094_57216224 . 0/1:99:255,0,255 . . 4 57215969 rs61978622 C T NON_SYNONYMOUS_CODING AASDH MODERATE|MISSENSE|Gac/Aac|D650N|857|AASDH|protein_coding|CODING|ENST00000451613|exon_4_57215429_57216224 . 0/1:99:255,0,255 . . 4 57314905 rs11549976 A C NON_SYNONYMOUS_CODING PAICS MODERATE|MISSENSE|aaA/aaC|K109N|333|PAICS|protein_coding|CODING|ENST00000514888|exon_4_57314876_57314989 . . 0/1:99:255,0,255 0/1:99:255,0,255 4 57314905 rs11549976 A C NON_SYNONYMOUS_CODING PAICS MODERATE|MISSENSE|aaA/aaC|K201N|412|PAICS|protein_coding|CODING|ENST00000505164|exon_4_57314876_57314989 . . 0/1:99:255,0,255 0/1:99:255,0,255 4 57314905 rs11549976 A C NON_SYNONYMOUS_CODING PAICS MODERATE|MISSENSE|aaA/aaC|K201N|425|PAICS|protein_coding|CODING|ENST00000264221|exon_4_57314876_57314989 . . 0/1:99:255,0,255 0/1:99:255,0,255 4 57314905 rs11549976 A C NON_SYNONYMOUS_CODING PAICS MODERATE|MISSENSE|aaA/aaC|K201N|425|PAICS|protein_coding|CODING|ENST00000512576|exon_4_57314876_57314989 . . 0/1:99:255,0,255 0/1:99:255,0,255 4 57314905 rs11549976 A C NON_SYNONYMOUS_CODING PAICS MODERATE|MISSENSE|aaA/aaC|K208N|432|PAICS|protein_coding|CODING|ENST00000399688|exon_4_57314876_57314989 . . 0/1:99:255,0,255 0/1:99:255,0,255 4 57796639 rs61748754 T C NON_SYNONYMOUS_CODING REST MODERATE|MISSENSE|Tct/Cct|S516P|1074|REST|protein_coding|CODING|ENST00000358605|exon_4_57796000_57798318 . 0/1:99:180,0,255 . . 4 57796639 rs61748754 T C NON_SYNONYMOUS_CODING REST MODERATE|MISSENSE|Tct/Cct|S539P|1097|REST|protein_coding|CODING|ENST00000309042|exon_4_57796007_57802010 . 0/1:99:180,0,255 . . 4 57796900 rs2228991 G A NON_SYNONYMOUS_CODING REST MODERATE|MISSENSE|Gtt/Att|V603I|1074|REST|protein_coding|CODING|ENST00000358605|exon_4_57796000_57798318 . . 0/1:99:222,0,197 . 4 57796900 rs2228991 G A NON_SYNONYMOUS_CODING REST MODERATE|MISSENSE|Gtt/Att|V626I|1097|REST|protein_coding|CODING|ENST00000309042|exon_4_57796007_57802010 . . 0/1:99:222,0,197 . 4 57797100 rs2227902 G T NON_SYNONYMOUS_CODING REST MODERATE|MISSENSE|gaG/gaT|E669D|1074|REST|protein_coding|CODING|ENST00000358605|exon_4_57796000_57798318 0/1:99:210,0,108 . . . 4 57797100 rs2227902 G T NON_SYNONYMOUS_CODING REST MODERATE|MISSENSE|gaG/gaT|E692D|1097|REST|protein_coding|CODING|ENST00000309042|exon_4_57796007_57802010 0/1:99:210,0,108 . . . 4 57797308 rs78220453 A C NON_SYNONYMOUS_CODING REST MODERATE|MISSENSE|Aag/Cag|K739Q|1074|REST|protein_coding|CODING|ENST00000358605|exon_4_57796000_57798318 0/1:78:75,0,221 . . . 4 57797308 rs78220453 A C NON_SYNONYMOUS_CODING REST MODERATE|MISSENSE|Aag/Cag|K762Q|1097|REST|protein_coding|CODING|ENST00000309042|exon_4_57796007_57802010 0/1:78:75,0,221 . . . 4 57843295 rs3733306 C A NON_SYNONYMOUS_CODING NOA1 MODERATE|MISSENSE|Gcc/Tcc|A153S|698|NOA1|protein_coding|CODING|ENST00000264230|exon_4_57842608_57844989 . . 0/1:99:166,0,180 . 4 57976487 rs11573021 G A NON_SYNONYMOUS_CODING IGFBP7 MODERATE|MISSENSE|Ctc/Ttc|L11F|279|IGFBP7|protein_coding|CODING|ENST00000537922|exon_4_57976043_57976551 . . 0/1:99:164,0,173 0/1:99:150,0,182 4 57976487 rs11573021 G A NON_SYNONYMOUS_CODING IGFBP7 MODERATE|MISSENSE|Ctc/Ttc|L11F|282|IGFBP7|protein_coding|CODING|ENST00000295666|exon_4_57976043_57976551 . . 0/1:99:164,0,173 0/1:99:150,0,182 4 66242774 rs151302542 C T NON_SYNONYMOUS_CODING EPHA5 MODERATE|MISSENSE|Gaa/Aaa|E437K|874|EPHA5|protein_coding|CODING|ENST00000432638|exon_4_66242716_66242781 . . 0/1:99:253,0,255 . 4 66242774 rs151302542 C T NON_SYNONYMOUS_CODING EPHA5 MODERATE|MISSENSE|Gaa/Aaa|E600K|1037|EPHA5|protein_coding|CODING|ENST00000273854|exon_4_66242716_66242781 . . 0/1:99:253,0,255 . 4 66242774 rs151302542 C T NON_SYNONYMOUS_CODING EPHA5 MODERATE|MISSENSE|Gaa/Aaa|E601K|1004|EPHA5|protein_coding|CODING|ENST00000511294|exon_4_66242716_66242781 . . 0/1:99:253,0,255 . 4 68484837 rs111757763 C A NON_SYNONYMOUS_CODING UBA6 MODERATE|MISSENSE|Gta/Tta|V1013L|1052|UBA6|protein_coding|CODING|ENST00000322244|exon_4_68481479_68484850 . . . 0/1:99:255,0,250 4 69337325 rs2603188 C G NON_SYNONYMOUS_CODING TMPRSS11E MODERATE|MISSENSE|caC/caG|H158Q|423|TMPRSS11E|protein_coding|CODING|ENST00000305363|exon_4_69337178_69337341 . . . 0/1:99:174,0,208 4 69362482 rs141580903 C T NON_SYNONYMOUS_CODING TMPRSS11E MODERATE|MISSENSE|aCg/aTg|T411M|423|TMPRSS11E|protein_coding|CODING|ENST00000305363|exon_4_69362361_69363322 0/1:99:255,0,255 . . . 4 70079975 rs7697037 A G NON_SYNONYMOUS_CODING UGT2B11 MODERATE|MISSENSE|Tgt/Cgt|C156R|529|UGT2B11|protein_coding|CODING|ENST00000446444|exon_4_70079720_70080449 . 0/1:99:255,0,255 0/1:99:255,0,255 . 4 70080139 rs7688262 C T NON_SYNONYMOUS_CODING UGT2B11 MODERATE|MISSENSE|cGa/cAa|R101Q|529|UGT2B11|protein_coding|CODING|ENST00000446444|exon_4_70079720_70080449 . 0/1:99:189,0,255 0/1:99:255,0,246 . 4 70080233 rs62298957 A G NON_SYNONYMOUS_CODING UGT2B11 MODERATE|MISSENSE|Tcc/Ccc|S70P|529|UGT2B11|protein_coding|CODING|ENST00000446444|exon_4_70079720_70080449 . 0/1:99:255,0,246 0/1:99:233,0,207 . 4 70360912 rs185495830 C A NON_SYNONYMOUS_CODING UGT2B4 MODERATE|MISSENSE|tGg/tTg|W223L|369|UGT2B4|protein_coding|CODING|ENST00000512583|exon_4_70360859_70361579 . 0/1:99:255,0,255 . . 4 70360912 rs185495830 C A NON_SYNONYMOUS_CODING UGT2B4 MODERATE|MISSENSE|tGg/tTg|W223L|528|UGT2B4|protein_coding|CODING|ENST00000305107|exon_4_70360859_70361626 . 0/1:99:255,0,255 . . 4 70360912 rs185495830 C A NON_SYNONYMOUS_CODING UGT2B4 MODERATE|MISSENSE|tGg/tTg|W87L|392|UGT2B4|protein_coding|CODING|ENST00000381096|exon_4_70360859_70361128 . 0/1:99:255,0,255 . . 4 70460328 rs4148304 C T NON_SYNONYMOUS_CODING UGT2A1 MODERATE|MISSENSE|Gtt/Att|V347I|483|UGT2A1|protein_coding|CODING|ENST00000512704|exon_4_70460195_70460414 0/1:99:250,0,208 . . . 4 70460328 rs4148304 C T NON_SYNONYMOUS_CODING UGT2A1 MODERATE|MISSENSE|Gtt/Att|V391I|527|UGT2A1|protein_coding|CODING|ENST00000286604|exon_4_70460195_70460414 0/1:99:250,0,208 . . . 4 70460328 rs4148304 C T NON_SYNONYMOUS_CODING UGT2A1 MODERATE|MISSENSE|Gtt/Att|V391I|527|UGT2A1|protein_coding|CODING|ENST00000503640|exon_4_70460195_70460414 0/1:99:250,0,208 . . . 4 70460328 rs4148304 C T NON_SYNONYMOUS_CODING UGT2A1 MODERATE|MISSENSE|Gtt/Att|V400I|536|UGT2A1|protein_coding|CODING|ENST00000457664|exon_4_70460195_70460414 0/1:99:250,0,208 . . . 4 70460328 rs4148304 C T NON_SYNONYMOUS_CODING UGT2A1 MODERATE|MISSENSE|Gtt/Att|V557I|693|UGT2A1|protein_coding|CODING|ENST00000514019|exon_4_70460195_70460414 0/1:99:250,0,208 . . . 4 71024099 rs1612460 A G NON_SYNONYMOUS_CODING C4orf40 MODERATE|MISSENSE|Ata/Gta|I44V|219|C4orf40|protein_coding|CODING|ENST00000344526|exon_4_71024045_71024617 . . . 0/1:99:255,0,201 4 71024099 rs1612460 A G NON_SYNONYMOUS_CODING C4orf40 MODERATE|MISSENSE|Ata/Gta|I44V|219|C4orf40|protein_coding|CODING|ENST00000502294|exon_4_71024045_71024617 . . . 0/1:99:255,0,201 4 71024240 rs1613461 C T NON_SYNONYMOUS_CODING C4orf40 MODERATE|MISSENSE|Cgt/Tgt|R91C|219|C4orf40|protein_coding|CODING|ENST00000344526|exon_4_71024045_71024617 . . 0/1:99:255,0,255 . 4 71024240 rs1613461 C T NON_SYNONYMOUS_CODING C4orf40 MODERATE|MISSENSE|Cgt/Tgt|R91C|219|C4orf40|protein_coding|CODING|ENST00000502294|exon_4_71024045_71024617 . . 0/1:99:255,0,255 . 4 71024466 rs201012961 C T NON_SYNONYMOUS_CODING C4orf40 MODERATE|MISSENSE|gCt/gTt|A166V|219|C4orf40|protein_coding|CODING|ENST00000344526|exon_4_71024045_71024617 . 0/1:77:74,0,255 . . 4 71024466 rs201012961 C T NON_SYNONYMOUS_CODING C4orf40 MODERATE|MISSENSE|gCt/gTt|A166V|219|C4orf40|protein_coding|CODING|ENST00000502294|exon_4_71024045_71024617 . 0/1:77:74,0,255 . . 4 71114956 rs1048152 G T NON_SYNONYMOUS_CODING CSN3 MODERATE|MISSENSE|cGc/cTc|R110L|182|CSN3|protein_coding|CODING|ENST00000304954|exon_4_71114715_71115210 . . . 0/1:99:255,0,255 4 71346701 rs6826961 C G NON_SYNONYMOUS_CODING MUC7 MODERATE|MISSENSE|aaC/aaG|N80K|135|MUC7|protein_coding|CODING|ENST00000505411|exon_4_71346516_71346869 0/1:99:255,0,155 . 0/1:99:255,0,232 . 4 71346701 rs6826961 C G NON_SYNONYMOUS_CODING MUC7 MODERATE|MISSENSE|aaC/aaG|N80K|377|MUC7|protein_coding|CODING|ENST00000304887|exon_4_71346516_71348714 0/1:99:255,0,155 . 0/1:99:255,0,232 . 4 71346701 rs6826961 C G NON_SYNONYMOUS_CODING MUC7 MODERATE|MISSENSE|aaC/aaG|N80K|377|MUC7|protein_coding|CODING|ENST00000413702|exon_4_71346516_71348713 0/1:99:255,0,155 . 0/1:99:255,0,232 . 4 71346701 rs6826961 C G NON_SYNONYMOUS_CODING MUC7 MODERATE|MISSENSE|aaC/aaG|N80K|377|MUC7|protein_coding|CODING|ENST00000456088|exon_4_71346516_71348713 0/1:99:255,0,155 . 0/1:99:255,0,232 . 4 71347050 rs144679944 G A NON_SYNONYMOUS_CODING MUC7 MODERATE|MISSENSE|Gca/Aca|A197T|377|MUC7|protein_coding|CODING|ENST00000304887|exon_4_71346516_71348714 . 0/1:99:188,0,255 . . 4 71347050 rs144679944 G A NON_SYNONYMOUS_CODING MUC7 MODERATE|MISSENSE|Gca/Aca|A197T|377|MUC7|protein_coding|CODING|ENST00000413702|exon_4_71346516_71348713 . 0/1:99:188,0,255 . . 4 71347050 rs144679944 G A NON_SYNONYMOUS_CODING MUC7 MODERATE|MISSENSE|Gca/Aca|A197T|377|MUC7|protein_coding|CODING|ENST00000456088|exon_4_71346516_71348713 . 0/1:99:188,0,255 . . 4 71388551 rs7660807 A G NON_SYNONYMOUS_CODING AMTN MODERATE|MISSENSE|aAt/aGt|N44S|208|AMTN|protein_coding|CODING|ENST00000504451|exon_4_71388475_71388555 0/1:99:227,0,255 . 0/1:99:236,0,255 . 4 71388551 rs7660807 A G NON_SYNONYMOUS_CODING AMTN MODERATE|MISSENSE|aAt/aGt|N45S|209|AMTN|protein_coding|CODING|ENST00000339336|exon_4_71388472_71388555 0/1:99:227,0,255 . 0/1:99:236,0,255 . 4 71509314 rs3796703 C T NON_SYNONYMOUS_CODING ENAM MODERATE|MISSENSE|cCg/cTg|P724L|1142|ENAM|protein_coding|CODING|ENST00000396073|exon_4_71507732_71512541 . . 0/1:99:255,0,255 . 4 75248505 rs78803121 G T NON_SYNONYMOUS_CODING EREG MODERATE|MISSENSE|tGc/tTc|C141F|169|EREG|protein_coding|CODING|ENST00000244869|exon_4_75248362_75248511 . . . 0/1:99:255,0,244 4 75719517 rs28549760 A C NON_SYNONYMOUS_CODING BTC MODERATE|MISSENSE|Tgc/Ggc|C7G|178|BTC|protein_coding|CODING|ENST00000395743|exon_4_75719472_75719896 . . . 0/1:99:207,0,106 4 76731684 rs41282395 G C NON_SYNONYMOUS_CODING USO1 MODERATE|MISSENSE|Gag/Cag|E694Q|797|USO1|protein_coding|CODING|ENST00000508939|exon_4_76731585_76731692 . . . 0/1:99:255,0,255 4 76731684 rs41282395 G C NON_SYNONYMOUS_CODING USO1 MODERATE|MISSENSE|Gag/Cag|E787Q|890|USO1|protein_coding|CODING|ENST00000264904|exon_4_76731585_76731692 . . . 0/1:99:255,0,255 4 76731684 rs41282395 G C NON_SYNONYMOUS_CODING USO1 MODERATE|MISSENSE|Gag/Cag|E844Q|947|USO1|protein_coding|CODING|ENST00000514213|exon_4_76731585_76731692 . . . 0/1:99:255,0,255 4 76731684 rs41282395 G C NON_SYNONYMOUS_CODING USO1 MODERATE|MISSENSE|Gag/Cag|E868Q|971|USO1|protein_coding|CODING|ENST00000538159|exon_4_76731585_76731692 . . . 0/1:99:255,0,255 4 76878716 rs2242471 G C NON_SYNONYMOUS_CODING SDAD1 MODERATE|MISSENSE|tCc/tGc|S538C|650|SDAD1|protein_coding|CODING|ENST00000395711|exon_4_76878671_76878861 0/1:99:190,0,236 0/1:99:255,0,255 0/1:99:255,0,255 0/1:99:255,0,255 4 76878716 rs2242471 G C NON_SYNONYMOUS_CODING SDAD1 MODERATE|MISSENSE|tCc/tGc|S575C|687|SDAD1|protein_coding|CODING|ENST00000356260|exon_4_76878671_76878861 0/1:99:190,0,236 0/1:99:255,0,255 0/1:99:255,0,255 0/1:99:255,0,255 4 77244466 . A G NON_SYNONYMOUS_CODING CCDC158 MODERATE|MISSENSE|cTg/cCg|L1085P|1113|CCDC158|protein_coding|CODING|ENST00000388914|exon_4_77244455_77244562 . . . 0/1:99:225,0,255 4 77244466 . A G NON_SYNONYMOUS_CODING CCDC158 MODERATE|MISSENSE|cTg/cCg|L505P|533|CCDC158|protein_coding|CODING|ENST00000318586|exon_4_77244455_77244562 . . . 0/1:99:225,0,255 4 77476772 rs144435434 G T NON_SYNONYMOUS_CODING SHROOM3 MODERATE|MISSENSE|gGg/gTg|G60V|1996|SHROOM3|protein_coding|CODING|ENST00000296043|exon_4_77476762_77476916 0/1:99:249,0,255 . . . 4 77631425 rs3821979 T A NON_SYNONYMOUS_CODING SHROOM3 MODERATE|MISSENSE|cTt/cAt|L147H|1996|SHROOM3|protein_coding|CODING|ENST00000296043|exon_4_77631309_77631440 . . 0/1:99:216,0,230 . 4 77660299 rs61999292 T G NON_SYNONYMOUS_CODING SHROOM3 MODERATE|MISSENSE|Tct/Gct|S325A|1996|SHROOM3|protein_coding|CODING|ENST00000296043|exon_4_77659914_77663079 . . . 0/1:99:251,0,241 4 78079695 rs4150050 T G NON_SYNONYMOUS_CODING CCNG2 MODERATE|MISSENSE|Ttg/Gtg|L4V|159|CCNG2|protein_coding|CODING|ENST00000512918|exon_4_78079686_78079823 . . . 0/1:99:232,0,207 4 78079695 rs4150050 T G NON_SYNONYMOUS_CODING CCNG2 MODERATE|MISSENSE|Ttg/Gtg|L4V|304|CCNG2|protein_coding|CODING|ENST00000509972|exon_4_78079579_78079823 . . . 0/1:99:232,0,207 4 78079695 rs4150050 T G NON_SYNONYMOUS_CODING CCNG2 MODERATE|MISSENSE|Ttg/Gtg|L4V|344|CCNG2|protein_coding|CODING|ENST00000316355|exon_4_78079686_78079823 . . . 0/1:99:232,0,207 4 78079695 rs4150050 T G NON_SYNONYMOUS_CODING CCNG2 MODERATE|MISSENSE|Ttg/Gtg|L4V|344|CCNG2|protein_coding|CODING|ENST00000354403|exon_4_78079686_78079823 . . . 0/1:99:232,0,207 4 78079695 rs4150050 T G NON_SYNONYMOUS_CODING CCNG2 MODERATE|MISSENSE|Ttg/Gtg|L4V|344|CCNG2|protein_coding|CODING|ENST00000395640|exon_4_78079450_78079823 . . . 0/1:99:232,0,207 4 78079695 rs4150050 T G NON_SYNONYMOUS_CODING CCNG2 MODERATE|MISSENSE|Ttg/Gtg|L4V|344|CCNG2|protein_coding|CODING|ENST00000502280|exon_4_78079686_78079823 . . . 0/1:99:232,0,207 4 79173616 rs147709711 C G NON_SYNONYMOUS_CODING FRAS1 MODERATE|MISSENSE|cCc/cGc|P127R|1976|FRAS1|protein_coding|CODING|ENST00000325942|exon_4_79173546_79173705 . . 0/1:99:255,0,255 . 4 79173616 rs147709711 C G NON_SYNONYMOUS_CODING FRAS1 MODERATE|MISSENSE|cCc/cGc|P127R|317|FRAS1|protein_coding|CODING|ENST00000380674|exon_4_79173546_79173705 . . 0/1:99:255,0,255 . 4 79173616 rs147709711 C G NON_SYNONYMOUS_CODING FRAS1 MODERATE|MISSENSE|cCc/cGc|P127R|4012|FRAS1|protein_coding|CODING|ENST00000264895|exon_4_79173546_79173705 . . 0/1:99:255,0,255 . 4 79173616 rs147709711 C G NON_SYNONYMOUS_CODING FRAS1 MODERATE|MISSENSE|cCc/cGc|P127R|737|FRAS1|protein_coding|CODING|ENST00000264899|exon_4_79173546_79173705 . . 0/1:99:255,0,255 . 4 79295322 rs17459809 G A NON_SYNONYMOUS_CODING FRAS1 MODERATE|MISSENSE|gGg/gAg|G1023E|1976|FRAS1|protein_coding|CODING|ENST00000325942|exon_4_79295265_79295405 . . . 0/1:99:255,0,252 4 79295322 rs17459809 G A NON_SYNONYMOUS_CODING FRAS1 MODERATE|MISSENSE|gGg/gAg|G1023E|4012|FRAS1|protein_coding|CODING|ENST00000264895|exon_4_79295265_79295405 . . . 0/1:99:255,0,252 4 79295378 rs114077522 G A NON_SYNONYMOUS_CODING FRAS1 MODERATE|MISSENSE|Gca/Aca|A1042T|1976|FRAS1|protein_coding|CODING|ENST00000325942|exon_4_79295265_79295405 . . . 0/1:99:255,0,255 4 79295378 rs114077522 G A NON_SYNONYMOUS_CODING FRAS1 MODERATE|MISSENSE|Gca/Aca|A1042T|4012|FRAS1|protein_coding|CODING|ENST00000264895|exon_4_79295265_79295405 . . . 0/1:99:255,0,255 4 79372992 rs76345011 T C NON_SYNONYMOUS_CODING FRAS1 MODERATE|MISSENSE|gTt/gCt|V2177A|4012|FRAS1|protein_coding|CODING|ENST00000264895|exon_4_79372926_79373045 0/1:99:255,0,255 . . . 4 79786856 rs2288255 G A NON_SYNONYMOUS_CODING BMP2K MODERATE|MISSENSE|Ggt/Agt|G405S|1161|BMP2K|protein_coding|CODING|ENST00000335016|exon_4_79786711_79786874 . . 0/1:99:255,0,255 . 4 79786856 rs2288255 G A NON_SYNONYMOUS_CODING BMP2K MODERATE|MISSENSE|Ggt/Agt|G405S|662|BMP2K|protein_coding|CODING|ENST00000502871|exon_4_79786711_79786874 . . 0/1:99:255,0,255 . 4 79786856 rs2288255 G A NON_SYNONYMOUS_CODING BMP2K MODERATE|MISSENSE|Ggt/Agt|G419S|676|BMP2K|protein_coding|CODING|ENST00000264889|exon_4_79786711_79786874 . . 0/1:99:255,0,255 . 4 79792166 rs200441916 C G NON_SYNONYMOUS_CODING BMP2K MODERATE|MISSENSE|caC/caG|H487Q|1161|BMP2K|protein_coding|CODING|ENST00000335016|exon_4_79791937_79792214 . . 0/1:99:142,0,166 . 4 79792166 rs200441916 C G NON_SYNONYMOUS_CODING BMP2K MODERATE|MISSENSE|caC/caG|H487Q|662|BMP2K|protein_coding|CODING|ENST00000502871|exon_4_79791937_79792214 . . 0/1:99:142,0,166 . 4 79792166 rs200441916 C G NON_SYNONYMOUS_CODING BMP2K MODERATE|MISSENSE|caC/caG|H501Q|676|BMP2K|protein_coding|CODING|ENST00000264889|exon_4_79791937_79792214 . . 0/1:99:142,0,166 . 4 81123344 . G A NON_SYNONYMOUS_CODING PRDM8 MODERATE|MISSENSE|aGc/aAc|S243N|426|PRDM8|protein_coding|CODING|ENST00000515013|exon_4_81123068_81123899 0/1:99:187,0,155 . . . 4 81123344 . G A NON_SYNONYMOUS_CODING PRDM8 MODERATE|MISSENSE|aGc/aAc|S243N|689|PRDM8|protein_coding|CODING|ENST00000339711|exon_4_81123068_81125480 0/1:99:187,0,155 . . . 4 81123344 . G A NON_SYNONYMOUS_CODING PRDM8 MODERATE|MISSENSE|aGc/aAc|S243N|689|PRDM8|protein_coding|CODING|ENST00000415738|exon_4_81123068_81125478 0/1:99:187,0,155 . . . 4 81123344 . G A NON_SYNONYMOUS_CODING PRDM8 MODERATE|MISSENSE|aGc/aAc|S243N|689|PRDM8|protein_coding|CODING|ENST00000504452|exon_4_81123068_81125483 0/1:99:187,0,155 . . . 4 81207686 . GAGCAGC GAGCAGCAGC CODON_CHANGE_PLUS_CODON_INSERTION FGF5 MODERATE||cca/cAGCca|P225QP|268|FGF5|protein_coding|CODING|ENST00000312465|exon_4_81207479_81211348 0/1:99:255,0,255 . . . 4 83765605 rs11541628 C A NON_SYNONYMOUS_CODING SEC31A MODERATE|MISSENSE|Gct/Tct|A618S|969|SEC31A|protein_coding|CODING|ENST00000264405|exon_4_83765539_83765662 . 0/1:99:255,0,255 . . 4 83765605 rs11541628 C A NON_SYNONYMOUS_CODING SEC31A MODERATE|MISSENSE|Gct/Tct|A815S|1067|SEC31A|protein_coding|CODING|ENST00000500777|exon_4_83765539_83765662 . 0/1:99:255,0,255 . . 4 83765605 rs11541628 C A NON_SYNONYMOUS_CODING SEC31A MODERATE|MISSENSE|Gct/Tct|A815S|1067|SEC31A|protein_coding|CODING|ENST00000513858|exon_4_83765539_83765662 . 0/1:99:255,0,255 . . 4 83765605 rs11541628 C A NON_SYNONYMOUS_CODING SEC31A MODERATE|MISSENSE|Gct/Tct|A815S|1166|SEC31A|protein_coding|CODING|ENST00000505984|exon_4_83765539_83765662 . 0/1:99:255,0,255 . . 4 83765605 rs11541628 C A NON_SYNONYMOUS_CODING SEC31A MODERATE|MISSENSE|Gct/Tct|A815S|1181|SEC31A|protein_coding|CODING|ENST00000326950|exon_4_83765539_83765662 . 0/1:99:255,0,255 . . 4 83765605 rs11541628 C A NON_SYNONYMOUS_CODING SEC31A MODERATE|MISSENSE|Gct/Tct|A815S|1181|SEC31A|protein_coding|CODING|ENST00000348405|exon_4_83765539_83765662 . 0/1:99:255,0,255 . . 4 83765605 rs11541628 C A NON_SYNONYMOUS_CODING SEC31A MODERATE|MISSENSE|Gct/Tct|A849S|1200|SEC31A|protein_coding|CODING|ENST00000443462|exon_4_83765539_83765662 . 0/1:99:255,0,255 . . 4 83765605 rs11541628 C A NON_SYNONYMOUS_CODING SEC31A MODERATE|MISSENSE|Gct/Tct|A854S|1106|SEC31A|protein_coding|CODING|ENST00000311785|exon_4_83765539_83765662 . 0/1:99:255,0,255 . . 4 83765605 rs11541628 C A NON_SYNONYMOUS_CODING SEC31A MODERATE|MISSENSE|Gct/Tct|A854S|1106|SEC31A|protein_coding|CODING|ENST00000509142|exon_4_83765539_83765662 . 0/1:99:255,0,255 . . 4 83765605 rs11541628 C A NON_SYNONYMOUS_CODING SEC31A MODERATE|MISSENSE|Gct/Tct|A854S|1205|SEC31A|protein_coding|CODING|ENST00000508502|exon_4_83765539_83765662 . 0/1:99:255,0,255 . . 4 83765605 rs11541628 C A NON_SYNONYMOUS_CODING SEC31A MODERATE|MISSENSE|Gct/Tct|A854S|1220|SEC31A|protein_coding|CODING|ENST00000355196|exon_4_83765539_83765662 . 0/1:99:255,0,255 . . 4 83765605 rs11541628 C A NON_SYNONYMOUS_CODING SEC31A MODERATE|MISSENSE|Gct/Tct|A854S|1220|SEC31A|protein_coding|CODING|ENST00000395310|exon_4_83765539_83765662 . 0/1:99:255,0,255 . . 4 83765605 rs11541628 C A NON_SYNONYMOUS_CODING SEC31A MODERATE|MISSENSE|Gct/Tct|A854S|1220|SEC31A|protein_coding|CODING|ENST00000448323|exon_4_83765539_83765662 . 0/1:99:255,0,255 . . 4 83765605 rs11541628 C A NON_SYNONYMOUS_CODING SEC31A MODERATE|MISSENSE|Gct/Tct|A854S|1233|SEC31A|protein_coding|CODING|ENST00000432794|exon_4_83765539_83765662 . 0/1:99:255,0,255 . . 4 83765605 rs11541628 C A NON_SYNONYMOUS_CODING SEC31A MODERATE|MISSENSE|Gct/Tct|A854S|877|SEC31A|protein_coding|CODING|ENST00000508479|exon_4_83764838_83765662 . 0/1:99:255,0,255 . . 4 83765605 rs11541628 C A NON_SYNONYMOUS_CODING SEC31A MODERATE|MISSENSE|Gct/Tct|A885S|1251|SEC31A|protein_coding|CODING|ENST00000505472|exon_4_83765539_83765662 . 0/1:99:255,0,255 . . 4 87610798 rs79011039 C A NON_SYNONYMOUS_CODING PTPN13 MODERATE|MISSENSE|tCc/tAc|S191Y|227|PTPN13|protein_coding|CODING|ENST00000502971|exon_4_87610773_87611456 . . . 0/1:99:255,0,242 4 87610809 rs77042968 G A NON_SYNONYMOUS_CODING PTPN13 MODERATE|MISSENSE|Gga/Aga|G195R|227|PTPN13|protein_coding|CODING|ENST00000502971|exon_4_87610773_87611456 . . . 0/1:99:255,0,255 4 87769929 rs13106574 T C NON_SYNONYMOUS_CODING SLC10A6 MODERATE|MISSENSE|Att/Gtt|I114V|377|SLC10A6|protein_coding|CODING|ENST00000273905|exon_4_87769892_87770416 . . . 0/1:99:174,0,251 4 88536013 . TAGCAGTGACAGCAGCAACAGCAGTGACAGCAGTGATAGCAGTGACAGCAGCAACAGCAGTGACAGTAGCGATAGCAGTGACAGCAGCAACAGCAGTGACAGCAG TAGCAGTGACAGCAGTGATAGCAGTGACAGCAGCAACAGCAGTGACAGTAGCGATAGCAGTGACAGCAGCAACAGCAGTGACAGCAG CODON_CHANGE_PLUS_CODON_DELETION DSPP MODERATE||agcaacagcagtgacagcagt/agt|SNSSDSS738S|1301|DSPP|protein_coding|CODING|ENST00000282478|exon_4_88534937_88538062 . . 0/1:99:156,0,255 . 4 88536013 . TAGCAGTGACAGCAGCAACAGCAGTGACAGCAGTGATAGCAGTGACAGCAGCAACAGCAGTGACAGTAGCGATAGCAGTGACAGCAGCAACAGCAGTGACAGCAG TAGCAGTGACAGCAGTGATAGCAGTGACAGCAGCAACAGCAGTGACAGTAGCGATAGCAGTGACAGCAGCAACAGCAGTGACAGCAG CODON_CHANGE_PLUS_CODON_DELETION DSPP MODERATE||agcaacagcagtgacagcagt/agt|SNSSDSS738S|1301|DSPP|protein_coding|CODING|ENST00000399271|exon_4_88534937_88538025 . . 0/1:99:156,0,255 . 4 88536542 . AACAGCAGTGACAGCAGTGA AACAGCAGTGA CODON_CHANGE_PLUS_CODON_DELETION DSPP MODERATE||gacagcagtgat/gat|DSSD913D|1301|DSPP|protein_coding|CODING|ENST00000282478|exon_4_88534937_88538062 . . 0/1:99:150,0,255 . 4 88536542 . AACAGCAGTGACAGCAGTGA AACAGCAGTGA CODON_CHANGE_PLUS_CODON_DELETION DSPP MODERATE||gacagcagtgat/gat|DSSD913D|1301|DSPP|protein_coding|CODING|ENST00000399271|exon_4_88534937_88538025 . . 0/1:99:150,0,255 . 4 88536764 rs200690984 G A NON_SYNONYMOUS_CODING DSPP MODERATE|MISSENSE|Gat/Aat|D984N|1301|DSPP|protein_coding|CODING|ENST00000282478|exon_4_88534937_88538062 . . 0/1:99:243,0,255 . 4 88536764 rs200690984 G A NON_SYNONYMOUS_CODING DSPP MODERATE|MISSENSE|Gat/Aat|D984N|1301|DSPP|protein_coding|CODING|ENST00000399271|exon_4_88534937_88538025 . . 0/1:99:243,0,255 . 4 88536818 rs62642443 A G NON_SYNONYMOUS_CODING DSPP MODERATE|MISSENSE|Aac/Gac|N1002D|1301|DSPP|protein_coding|CODING|ENST00000282478|exon_4_88534937_88538062 . 0/1:99:255,0,181 0/1:99:241,0,209 . 4 88536818 rs62642443 A G NON_SYNONYMOUS_CODING DSPP MODERATE|MISSENSE|Aac/Gac|N1002D|1301|DSPP|protein_coding|CODING|ENST00000399271|exon_4_88534937_88538025 . 0/1:99:255,0,181 0/1:99:241,0,209 . 4 88537268 rs202025088 G A NON_SYNONYMOUS_CODING DSPP MODERATE|MISSENSE|Gac/Aac|D1152N|1301|DSPP|protein_coding|CODING|ENST00000282478|exon_4_88534937_88538062 . 0/1:99:170,0,156 . . 4 88537268 rs202025088 G A NON_SYNONYMOUS_CODING DSPP MODERATE|MISSENSE|Gac/Aac|D1152N|1301|DSPP|protein_coding|CODING|ENST00000399271|exon_4_88534937_88538025 . 0/1:99:170,0,156 . . 4 88537387 . CAGCAGCGACAGCAGCGATAGCAGCGACAGCAGCGATAG CAGCAGCGACAGCAGCGATAG CODON_CHANGE_PLUS_CODON_DELETION DSPP MODERATE||agcagcgacagcagcgatagt/agt|SSDSSDS1198S|1301|DSPP|protein_coding|CODING|ENST00000282478|exon_4_88534937_88538062 . 0/1:99:108,0,255 . . 4 88537387 . CAGCAGCGACAGCAGCGATAGCAGCGACAGCAGCGATAG CAGCAGCGACAGCAGCGATAG CODON_CHANGE_PLUS_CODON_DELETION DSPP MODERATE||agcagcgacagcagcgatagt/agt|SSDSSDS1198S|1301|DSPP|protein_coding|CODING|ENST00000399271|exon_4_88534937_88538025 . 0/1:99:108,0,255 . . 4 88537556 rs112542308 A G NON_SYNONYMOUS_CODING DSPP MODERATE|MISSENSE|Aac/Gac|N1248D|1301|DSPP|protein_coding|CODING|ENST00000282478|exon_4_88534937_88538062 . . 0/1:71:68,0,255 . 4 88537556 rs112542308 A G NON_SYNONYMOUS_CODING DSPP MODERATE|MISSENSE|Aac/Gac|N1248D|1301|DSPP|protein_coding|CODING|ENST00000399271|exon_4_88534937_88538025 . . 0/1:71:68,0,255 . 4 88732911 rs1054628 C T NON_SYNONYMOUS_CODING IBSP MODERATE|MISSENSE|gCc/gTc|A268V|317|IBSP|protein_coding|CODING|ENST00000226284|exon_4_88732514_88733074 . 0/1:99:255,0,248 . 0/1:99:226,0,255 4 88928968 rs1805044 G C NON_SYNONYMOUS_CODING PKD2 MODERATE|MISSENSE|cGg/cCg|R28P|968|PKD2|protein_coding|CODING|ENST00000237596|exon_4_88928820_88929480 . 0/1:29:54,0,26 . 0/1:99:114,0,140 4 89618713 rs139014587 G A NON_SYNONYMOUS_CODING NAP1L5 MODERATE|MISSENSE|Ccg/Tcg|P65S|145|NAP1L5|protein_coding|CODING|ENST00000539293|exon_4_89618492_89618964 . 0/1:99:255,0,242 . . 4 89618713 rs139014587 G A NON_SYNONYMOUS_CODING NAP1L5 MODERATE|MISSENSE|Ccg/Tcg|P65S|182|NAP1L5|protein_coding|CODING|ENST00000323061|exon_4_89617066_89619386 . 0/1:99:255,0,242 . . 4 89671746 . T C NON_SYNONYMOUS_CODING FAM13A MODERATE|MISSENSE|gAc/gGc|D176G|609|FAM13A|protein_coding|CODING|ENST00000511976|exon_4_89671575_89671788 . . 0/1:99:255,0,148 . 4 89671746 . T C NON_SYNONYMOUS_CODING FAM13A MODERATE|MISSENSE|gAc/gGc|D236G|669|FAM13A|protein_coding|CODING|ENST00000513837|exon_4_89671575_89671788 . . 0/1:99:255,0,148 . 4 89671746 . T C NON_SYNONYMOUS_CODING FAM13A MODERATE|MISSENSE|gAc/gGc|D250G|683|FAM13A|protein_coding|CODING|ENST00000503556|exon_4_89671575_89671788 . . 0/1:99:255,0,148 . 4 89671746 . T C NON_SYNONYMOUS_CODING FAM13A MODERATE|MISSENSE|gAc/gGc|D264G|669|FAM13A|protein_coding|CODING|ENST00000395002|exon_4_89671575_89671788 . . 0/1:99:255,0,148 . 4 89671746 . T C NON_SYNONYMOUS_CODING FAM13A MODERATE|MISSENSE|gAc/gGc|D264G|697|FAM13A|protein_coding|CODING|ENST00000508369|exon_4_89671575_89671788 . . 0/1:99:255,0,148 . 4 89671746 . T C NON_SYNONYMOUS_CODING FAM13A MODERATE|MISSENSE|gAc/gGc|D590G|1023|FAM13A|protein_coding|CODING|ENST00000264344|exon_4_89671575_89671788 . . 0/1:99:255,0,148 . 4 90170118 rs28622301 A G NON_SYNONYMOUS_CODING GPRIN3 MODERATE|MISSENSE|Tcc/Ccc|S382P|776|GPRIN3|protein_coding|CODING|ENST00000333209|exon_4_90165429_90171384 . . 0/1:99:188,0,255 . 4 96106321 rs151009512 C T NON_SYNONYMOUS_CODING UNC5C MODERATE|MISSENSE|atG/atA|M680I|890|UNC5C|protein_coding|CODING|ENST00000331502|exon_4_96106198_96106347 . . . 0/1:99:255,0,246 4 96106321 rs151009512 C T NON_SYNONYMOUS_CODING UNC5C MODERATE|MISSENSE|atG/atA|M721I|931|UNC5C|protein_coding|CODING|ENST00000453304|exon_4_96106198_96106347 . . . 0/1:99:255,0,246 4 96106321 rs151009512 C T NON_SYNONYMOUS_CODING UNC5C MODERATE|MISSENSE|atG/atA|M740I|744|UNC5C|protein_coding|CODING|ENST00000513796|exon_4_96106306_96106347 . . . 0/1:99:255,0,246 4 100229016 rs75967634 C T NON_SYNONYMOUS_CODING ADH1B MODERATE|MISSENSE|cGt/cAt|R330H|335|ADH1B|protein_coding|CODING|ENST00000394887|exon_4_100226134_100229021 . . . 0/1:99:250,0,255 4 100229016 rs75967634 C T NON_SYNONYMOUS_CODING ADH1B MODERATE|MISSENSE|cGt/cAt|R357H|362|ADH1B|protein_coding|CODING|ENST00000412614|exon_4_100228923_100229021 . . . 0/1:99:250,0,255 4 100229016 rs75967634 C T NON_SYNONYMOUS_CODING ADH1B MODERATE|MISSENSE|cGt/cAt|R370H|375|ADH1B|protein_coding|CODING|ENST00000305046|exon_4_100226121_100229021 . . . 0/1:99:250,0,255 4 100239284 rs6413413 T A NON_SYNONYMOUS_CODING ADH1B MODERATE|MISSENSE|Acc/Tcc|T20S|335|ADH1B|protein_coding|CODING|ENST00000394887|exon_4_100239203_100239341 . 0/1:99:255,0,248 . . 4 100239284 rs6413413 T A NON_SYNONYMOUS_CODING ADH1B MODERATE|MISSENSE|Acc/Tcc|T60S|362|ADH1B|protein_coding|CODING|ENST00000412614|exon_4_100239203_100239341 . 0/1:99:255,0,248 . . 4 100239284 rs6413413 T A NON_SYNONYMOUS_CODING ADH1B MODERATE|MISSENSE|Acc/Tcc|T60S|375|ADH1B|protein_coding|CODING|ENST00000305046|exon_4_100239203_100239341 . 0/1:99:255,0,248 . . 4 102751076 rs10516487 G A NON_SYNONYMOUS_CODING BANK1 MODERATE|MISSENSE|cGc/cAc|R31H|755|BANK1|protein_coding|CODING|ENST00000444316|exon_4_102750965_102751363 . . . 0/1:99:255,0,255 4 102751076 rs10516487 G A NON_SYNONYMOUS_CODING BANK1 MODERATE|MISSENSE|cGc/cAc|R46H|770|BANK1|protein_coding|CODING|ENST00000504592|exon_4_102750965_102751363 . . . 0/1:99:255,0,255 4 102751076 rs10516487 G A NON_SYNONYMOUS_CODING BANK1 MODERATE|MISSENSE|cGc/cAc|R61H|785|BANK1|protein_coding|CODING|ENST00000322953|exon_4_102750965_102751363 . . . 0/1:99:255,0,255 4 102839287 rs3733197 G A NON_SYNONYMOUS_CODING BANK1 MODERATE|MISSENSE|Gca/Aca|A250T|652|BANK1|protein_coding|CODING|ENST00000428908|exon_4_102839150_102839346 . . . 1/1:99:255,81,0 4 102839287 rs3733197 G A NON_SYNONYMOUS_CODING BANK1 MODERATE|MISSENSE|Gca/Aca|A250T|652|BANK1|protein_coding|CODING|ENST00000508653|exon_4_102839150_102839346 . . . 1/1:99:255,81,0 4 102839287 rs3733197 G A NON_SYNONYMOUS_CODING BANK1 MODERATE|MISSENSE|Gca/Aca|A353T|755|BANK1|protein_coding|CODING|ENST00000444316|exon_4_102839150_102839346 . . . 1/1:99:255,81,0 4 102839287 rs3733197 G A NON_SYNONYMOUS_CODING BANK1 MODERATE|MISSENSE|Gca/Aca|A368T|770|BANK1|protein_coding|CODING|ENST00000504592|exon_4_102839150_102839346 . . . 1/1:99:255,81,0 4 102839287 rs3733197 G A NON_SYNONYMOUS_CODING BANK1 MODERATE|MISSENSE|Gca/Aca|A383T|785|BANK1|protein_coding|CODING|ENST00000322953|exon_4_102839150_102839346 . . . 1/1:99:255,81,0 4 103527745 rs149211506 G T NON_SYNONYMOUS_CODING NFKB1 MODERATE|MISSENSE|ttG/ttT|L614F|968|NFKB1|protein_coding|CODING|ENST00000394820|exon_4_103527653_103527854 . . . 0/1:99:228,0,255 4 103527745 rs149211506 G T NON_SYNONYMOUS_CODING NFKB1 MODERATE|MISSENSE|ttG/ttT|L614F|968|NFKB1|protein_coding|CODING|ENST00000505458|exon_4_103527653_103527854 . . . 0/1:99:228,0,255 4 103527745 rs149211506 G T NON_SYNONYMOUS_CODING NFKB1 MODERATE|MISSENSE|ttG/ttT|L615F|969|NFKB1|protein_coding|CODING|ENST00000226574|exon_4_103527653_103527854 . . . 0/1:99:228,0,255 4 106196829 rs34402524 T G NON_SYNONYMOUS_CODING TET2 MODERATE|MISSENSE|tTg/tGg|L1721W|2002|TET2|protein_coding|CODING|ENST00000380013|exon_4_106196205_106200960 0/1:99:255,0,255 . . . 4 106196829 rs34402524 T G NON_SYNONYMOUS_CODING TET2 MODERATE|MISSENSE|tTg/tGg|L1721W|2002|TET2|protein_coding|CODING|ENST00000540549|exon_4_106196205_106200973 0/1:99:255,0,255 . . . 4 106196829 rs34402524 T G NON_SYNONYMOUS_CODING TET2 MODERATE|MISSENSE|tTg/tGg|L1742W|2023|TET2|protein_coding|CODING|ENST00000513237|exon_4_106196205_106200973 0/1:99:255,0,255 . . . 4 107249244 rs1134648 C G NON_SYNONYMOUS_CODING AIMP1 MODERATE|MISSENSE|Cca/Gca|P103A|336|AIMP1|protein_coding|CODING|ENST00000394701|exon_4_107249233_107249400 0/1:99:255,0,213 0/1:99:255,0,245 . . 4 107249244 rs1134648 C G NON_SYNONYMOUS_CODING AIMP1 MODERATE|MISSENSE|Cca/Gca|P79A|149|AIMP1|protein_coding|CODING|ENST00000510207|exon_4_107249233_107249400 0/1:99:255,0,213 0/1:99:255,0,245 . . 4 107249244 rs1134648 C G NON_SYNONYMOUS_CODING AIMP1 MODERATE|MISSENSE|Cca/Gca|P79A|269|AIMP1|protein_coding|CODING|ENST00000432345|exon_4_107249233_107249400 0/1:99:255,0,213 0/1:99:255,0,245 . . 4 107249244 rs1134648 C G NON_SYNONYMOUS_CODING AIMP1 MODERATE|MISSENSE|Cca/Gca|P79A|312|AIMP1|protein_coding|CODING|ENST00000358008|exon_4_107249233_107249400 0/1:99:255,0,213 0/1:99:255,0,245 . . 4 107249244 rs1134648 C G NON_SYNONYMOUS_CODING AIMP1 MODERATE|MISSENSE|Cca/Gca|P79A|312|AIMP1|protein_coding|CODING|ENST00000442366|exon_4_107249233_107249400 0/1:99:255,0,213 0/1:99:255,0,245 . . 4 108925994 rs17510991 A G NON_SYNONYMOUS_CODING HADH MODERATE|MISSENSE|cAt/cGt|H22R|318|HADH|protein_coding|CODING|ENST00000454409|exon_4_108925791_108926073 . 0/1:99:255,0,236 . . 4 108925994 rs17510991 A G NON_SYNONYMOUS_CODING HADH MODERATE|MISSENSE|cAt/cGt|H22R|318|HADH|protein_coding|CODING|ENST00000505878|exon_4_108925820_108926073 . 0/1:99:255,0,236 . . 4 109667954 rs143708546 G A NON_SYNONYMOUS_CODING AGXT2L1 MODERATE|MISSENSE|aCc/aTc|T321I|441|AGXT2L1|protein_coding|CODING|ENST00000512646|exon_4_109667918_109668007 . . 0/1:99:209,0,255 . 4 109667954 rs143708546 G A NON_SYNONYMOUS_CODING AGXT2L1 MODERATE|MISSENSE|aCc/aTc|T339I|459|AGXT2L1|protein_coding|CODING|ENST00000510706|exon_4_109667918_109668007 . . 0/1:99:209,0,255 . 4 109667954 rs143708546 G A NON_SYNONYMOUS_CODING AGXT2L1 MODERATE|MISSENSE|aCc/aTc|T373I|493|AGXT2L1|protein_coding|CODING|ENST00000411864|exon_4_109667918_109668007 . . 0/1:99:209,0,255 . 4 109667954 rs143708546 G A NON_SYNONYMOUS_CODING AGXT2L1 MODERATE|MISSENSE|aCc/aTc|T379I|499|AGXT2L1|protein_coding|CODING|ENST00000296486|exon_4_109667918_109668007 . . 0/1:99:209,0,255 . 4 110446016 rs202092664 C T NON_SYNONYMOUS_CODING SEC24B MODERATE|MISSENSE|Ctt/Ttt|L816F|1233|SEC24B|protein_coding|CODING|ENST00000399100|exon_4_110445974_110446097 . . 0/1:99:255,0,255 . 4 110446016 rs202092664 C T NON_SYNONYMOUS_CODING SEC24B MODERATE|MISSENSE|Ctt/Ttt|L851F|1268|SEC24B|protein_coding|CODING|ENST00000265175|exon_4_110445974_110446097 . . 0/1:99:255,0,255 . 4 110446016 rs202092664 C T NON_SYNONYMOUS_CODING SEC24B MODERATE|MISSENSE|Ctt/Ttt|L881F|1298|SEC24B|protein_coding|CODING|ENST00000504968|exon_4_110445974_110446097 . . 0/1:99:255,0,255 . 4 110681527 rs112534524 C T NON_SYNONYMOUS_CODING CFI MODERATE|MISSENSE|gGc/gAc|G243D|320|CFI|protein_coding|CODING|ENST00000536228|exon_4_110681426_110681536 . . . 0/1:99:206,0,237 4 110681527 rs112534524 C T NON_SYNONYMOUS_CODING CFI MODERATE|MISSENSE|gGc/gAc|G261D|377|CFI|protein_coding|CODING|ENST00000540104|exon_4_110681426_110681536 . . . 0/1:99:206,0,237 4 110681527 rs112534524 C T NON_SYNONYMOUS_CODING CFI MODERATE|MISSENSE|gGc/gAc|G261D|576|CFI|protein_coding|CODING|ENST00000512148|exon_4_110681426_110681536 . . . 0/1:99:206,0,237 4 110681527 rs112534524 C T NON_SYNONYMOUS_CODING CFI MODERATE|MISSENSE|gGc/gAc|G261D|583|CFI|protein_coding|CODING|ENST00000394634|exon_4_110681426_110681536 . . . 0/1:99:206,0,237 4 110681527 rs112534524 C T NON_SYNONYMOUS_CODING CFI MODERATE|MISSENSE|gGc/gAc|G261D|591|CFI|protein_coding|CODING|ENST00000394635|exon_4_110681426_110681536 . . . 0/1:99:206,0,237 4 113199179 . C T NON_SYNONYMOUS_CODING TIFA MODERATE|MISSENSE|Gag/Aag|E132K|184|TIFA|protein_coding|CODING|ENST00000361717|exon_4_113196783_113199590 . . . 0/1:99:239,0,255 4 113199179 . C T NON_SYNONYMOUS_CODING TIFA MODERATE|MISSENSE|Gag/Aag|E132K|184|TIFA|protein_coding|CODING|ENST00000500655|exon_4_113198915_113199590 . . . 0/1:99:239,0,255 4 113482146 rs17605622 G A NON_SYNONYMOUS_CODING C4orf21 MODERATE|MISSENSE|tCg/tTg|S1568L|2104|C4orf21|protein_coding|CODING|ENST00000505019|exon_4_113481889_113482151 . 0/1:99:255,0,244 . . 4 113524723 rs17669218 G A NON_SYNONYMOUS_CODING C4orf21 MODERATE|MISSENSE|aCa/aTa|T978I|1062|C4orf21|protein_coding|CODING|ENST00000309071|exon_4_113524680_113524853 . 0/1:99:254,0,255 . . 4 113524723 rs17669218 G A NON_SYNONYMOUS_CODING C4orf21 MODERATE|MISSENSE|aCa/aTa|T978I|2104|C4orf21|protein_coding|CODING|ENST00000505019|exon_4_113524680_113524853 . 0/1:99:254,0,255 . . 4 114276880 rs28377576 T C NON_SYNONYMOUS_CODING ANK2 MODERATE|MISSENSE|gTt/gCt|V2336A|3924|ANK2|protein_coding|CODING|ENST00000264366|exon_4_114274201_114280455 . 0/1:99:255,0,154 . . 4 114276880 rs28377576 T C NON_SYNONYMOUS_CODING ANK2 MODERATE|MISSENSE|gTt/gCt|V2369A|3957|ANK2|protein_coding|CODING|ENST00000357077|exon_4_114274201_114280455 . 0/1:99:255,0,154 . . 4 114278277 rs3733617 C T NON_SYNONYMOUS_CODING ANK2 MODERATE|MISSENSE|Cca/Tca|P2802S|3924|ANK2|protein_coding|CODING|ENST00000264366|exon_4_114274201_114280455 . 0/1:99:255,0,255 . . 4 114278277 rs3733617 C T NON_SYNONYMOUS_CODING ANK2 MODERATE|MISSENSE|Cca/Tca|P2835S|3957|ANK2|protein_coding|CODING|ENST00000357077|exon_4_114274201_114280455 . 0/1:99:255,0,255 . . 4 115544713 rs4148254 C T NON_SYNONYMOUS_CODING UGT8 MODERATE|MISSENSE|cCa/cTa|P226L|541|UGT8|protein_coding|CODING|ENST00000310836|exon_4_115544035_115544858 0/1:99:255,0,255 . . . 4 115544713 rs4148254 C T NON_SYNONYMOUS_CODING UGT8 MODERATE|MISSENSE|cCa/cTa|P226L|541|UGT8|protein_coding|CODING|ENST00000394511|exon_4_115543523_115544858 0/1:99:255,0,255 . . . 4 119234488 . C T NON_SYNONYMOUS_CODING PRSS12 MODERATE|MISSENSE|Gtc/Atc|V453I|875|PRSS12|protein_coding|CODING|ENST00000296498|exon_4_119234356_119234552 0/1:99:255,0,255 . . . 4 119610606 rs62328061 A G NON_SYNONYMOUS_CODING METTL14 MODERATE|MISSENSE|aAt/aGt|N41S|418|METTL14|protein_coding|CODING|ENST00000506780|exon_4_119610525_119610623 . . . 0/1:99:255,0,215 4 119952722 . C T NON_SYNONYMOUS_CODING SYNPO2 MODERATE|MISSENSE|cCg/cTg|P931L|1093|SYNPO2|protein_coding|CODING|ENST00000429713|exon_4_119951000_119956990 . . 0/1:99:255,0,255 . 4 119952722 . C T NON_SYNONYMOUS_CODING SYNPO2 MODERATE|MISSENSE|cCg/cTg|P931L|1109|SYNPO2|protein_coding|CODING|ENST00000434046|exon_4_119951000_119953182 . . 0/1:99:255,0,255 . 4 119952722 . C T NON_SYNONYMOUS_CODING SYNPO2 MODERATE|MISSENSE|cCg/cTg|P931L|1261|SYNPO2|protein_coding|CODING|ENST00000307142|exon_4_119951000_119953182 . . 0/1:99:255,0,255 . 4 121957565 rs147508531 G T NON_SYNONYMOUS_CODING NDNF MODERATE|MISSENSE|Caa/Aaa|Q521K|568|NDNF|protein_coding|CODING|ENST00000379692|exon_4_121956768_121958812 0/1:99:255,0,255 . . . 4 122068316 rs75386686 T G NON_SYNONYMOUS_CODING TNIP3 MODERATE|MISSENSE|gAa/gCa|E208A|325|TNIP3|protein_coding|CODING|ENST00000057513|exon_4_122068204_122068329 . . 0/1:99:255,0,255 . 4 122068316 rs75386686 T G NON_SYNONYMOUS_CODING TNIP3 MODERATE|MISSENSE|gAa/gCa|E208A|325|TNIP3|protein_coding|CODING|ENST00000454328|exon_4_122068204_122068329 . . 0/1:99:255,0,255 . 4 122068316 rs75386686 T G NON_SYNONYMOUS_CODING TNIP3 MODERATE|MISSENSE|gAa/gCa|E278A|369|TNIP3|protein_coding|CODING|ENST00000507879|exon_4_122068204_122068329 . . 0/1:99:255,0,255 . 4 122068316 rs75386686 T G NON_SYNONYMOUS_CODING TNIP3 MODERATE|MISSENSE|gAa/gCa|E285A|376|TNIP3|protein_coding|CODING|ENST00000509841|exon_4_122068204_122068329 . . 0/1:99:255,0,255 . 4 122078299 . CTCTCTGCCTGTCGTCCTTTCTCTGCCT CTCTCTGCCT CODON_DELETION TNIP3 MODERATE||aggcagagaaaggacgac/-|RQRKDD166-|369|TNIP3|protein_coding|CODING|ENST00000507879|exon_4_122078249_122078398 . . 0/1:83:80,0,255 . 4 122078299 . CTCTCTGCCTGTCGTCCTTTCTCTGCCT CTCTCTGCCT CODON_DELETION TNIP3 MODERATE||aggcagagaaaggacgac/-|RQRKDD173-|376|TNIP3|protein_coding|CODING|ENST00000509841|exon_4_122078249_122078398 . . 0/1:83:80,0,255 . 4 122078299 . CTCTCTGCCTGTCGTCCTTTCTCTGCCT CTCTCTGCCT CODON_DELETION TNIP3 MODERATE||aggcagagaaaggacgac/-|RQRKDD96-|325|TNIP3|protein_coding|CODING|ENST00000057513|exon_4_122078249_122078398 . . 0/1:83:80,0,255 . 4 122078299 . CTCTCTGCCTGTCGTCCTTTCTCTGCCT CTCTCTGCCT CODON_DELETION TNIP3 MODERATE||aggcagagaaaggacgac/-|RQRKDD96-|325|TNIP3|protein_coding|CODING|ENST00000454328|exon_4_122078249_122078398 . . 0/1:83:80,0,255 . 4 122103875 rs139501144 T C NON_SYNONYMOUS_CODING TNIP3 MODERATE|MISSENSE|Acc/Gcc|T49A|369|TNIP3|protein_coding|CODING|ENST00000507879|exon_4_122103831_122103951 . . 0/1:99:255,0,250 . 4 122103875 rs139501144 T C NON_SYNONYMOUS_CODING TNIP3 MODERATE|MISSENSE|Acc/Gcc|T56A|376|TNIP3|protein_coding|CODING|ENST00000509841|exon_4_122103831_122103951 . . 0/1:99:255,0,250 . 4 123160682 rs76067900 A G NON_SYNONYMOUS_CODING KIAA1109 MODERATE|MISSENSE|gAa/gGa|E1282G|3680|KIAA1109|protein_coding|CODING|ENST00000455637|exon_4_123160671_123161508 . . 0/1:99:255,0,255 . 4 123160682 rs76067900 A G NON_SYNONYMOUS_CODING KIAA1109 MODERATE|MISSENSE|gAa/gGa|E1282G|5005|KIAA1109|protein_coding|CODING|ENST00000264501|exon_4_123160671_123161508 . . 0/1:99:255,0,255 . 4 123160682 rs76067900 A G NON_SYNONYMOUS_CODING KIAA1109 MODERATE|MISSENSE|gAa/gGa|E1282G|5005|KIAA1109|protein_coding|CODING|ENST00000388738|exon_4_123160671_123161508 . . 0/1:99:255,0,255 . 4 123171659 rs56363411 T A NON_SYNONYMOUS_CODING KIAA1109 MODERATE|MISSENSE|gaT/gaA|D1951E|3680|KIAA1109|protein_coding|CODING|ENST00000455637|exon_4_123171517_123171728 . . 0/1:99:255,0,255 . 4 123171659 rs56363411 T A NON_SYNONYMOUS_CODING KIAA1109 MODERATE|MISSENSE|gaT/gaA|D1951E|5005|KIAA1109|protein_coding|CODING|ENST00000264501|exon_4_123171517_123171728 . . 0/1:99:255,0,255 . 4 123171659 rs56363411 T A NON_SYNONYMOUS_CODING KIAA1109 MODERATE|MISSENSE|gaT/gaA|D1951E|5005|KIAA1109|protein_coding|CODING|ENST00000388738|exon_4_123171517_123171728 . . 0/1:99:255,0,255 . 4 123192240 rs45608936 A C NON_SYNONYMOUS_CODING KIAA1109 MODERATE|MISSENSE|Agt/Cgt|S2521R|3680|KIAA1109|protein_coding|CODING|ENST00000455637|exon_4_123192173_123192879 . . . 0/1:99:222,0,255 4 123192240 rs45608936 A C NON_SYNONYMOUS_CODING KIAA1109 MODERATE|MISSENSE|Agt/Cgt|S2521R|5005|KIAA1109|protein_coding|CODING|ENST00000264501|exon_4_123192173_123192879 . . . 0/1:99:222,0,255 4 123192240 rs45608936 A C NON_SYNONYMOUS_CODING KIAA1109 MODERATE|MISSENSE|Agt/Cgt|S2521R|5005|KIAA1109|protein_coding|CODING|ENST00000388738|exon_4_123192173_123192879 . . . 0/1:99:222,0,255 4 123664446 rs13135778 G A NON_SYNONYMOUS_CODING BBS12 MODERATE|MISSENSE|Gac/Aac|D467N|710|BBS12|protein_coding|CODING|ENST00000314218|exon_4_123663038_123666098 . 0/1:99:237,0,255 . 1/1:99:255,93,0 4 123664446 rs13135778 G A NON_SYNONYMOUS_CODING BBS12 MODERATE|MISSENSE|Gac/Aac|D467N|710|BBS12|protein_coding|CODING|ENST00000542236|exon_4_123663038_123666097 . 0/1:99:237,0,255 . 1/1:99:255,93,0 4 126373543 rs149757393 T C NON_SYNONYMOUS_CODING FAT4 MODERATE|MISSENSE|cTc/cCc|L2089P|3222|FAT4|protein_coding|CODING|ENST00000335110|exon_4_126369616_126373965 . 0/1:99:255,0,255 . . 4 126373543 rs149757393 T C NON_SYNONYMOUS_CODING FAT4 MODERATE|MISSENSE|cTc/cCc|L3791P|4981|FAT4|protein_coding|CODING|ENST00000394329|exon_4_126369616_126373965 . 0/1:99:255,0,255 . . 4 134076164 . G A NON_SYNONYMOUS_CODING PCDH10 MODERATE|MISSENSE|cGt/cAt|R928H|1039|PCDH10|protein_coding|CODING|ENST00000394248|exon_4_134076072_134076178 . . . 0/1:99:255,0,255 4 134076164 . G A NON_SYNONYMOUS_CODING PCDH10 MODERATE|MISSENSE|cGt/cAt|R928H|1040|PCDH10|protein_coding|CODING|ENST00000264360|exon_4_134076072_134076178 . . . 0/1:99:255,0,255 4 138451397 rs74512322 G A NON_SYNONYMOUS_CODING PCDH18 MODERATE|MISSENSE|Ctc/Ttc|L396F|914|PCDH18|protein_coding|CODING|ENST00000507846|exon_4_138450756_138452896 . . 0/1:99:255,0,255 . 4 138451397 rs74512322 G A NON_SYNONYMOUS_CODING PCDH18 MODERATE|MISSENSE|Ctc/Ttc|L616F|1134|PCDH18|protein_coding|CODING|ENST00000412923|exon_4_138450756_138453613 . . 0/1:99:255,0,255 . 4 138451397 rs74512322 G A NON_SYNONYMOUS_CODING PCDH18 MODERATE|MISSENSE|Ctc/Ttc|L616F|1135|PCDH18|protein_coding|CODING|ENST00000344876|exon_4_138450756_138453629 . . 0/1:99:255,0,255 . 4 139103482 . T C NON_SYNONYMOUS_CODING SLC7A11 MODERATE|MISSENSE|aAg/aGg|K362R|501|SLC7A11|protein_coding|CODING|ENST00000280612|exon_4_139103451_139103547 0/1:99:255,0,255 . . . 4 146077132 rs36225838 C T NON_SYNONYMOUS_CODING OTUD4 MODERATE|MISSENSE|Gct/Act|A151T|1049|OTUD4|protein_coding|CODING|ENST00000454497|exon_4_146077088_146077148 . 0/1:99:255,0,255 . . 4 146077132 rs36225838 C T NON_SYNONYMOUS_CODING OTUD4 MODERATE|MISSENSE|Gct/Act|A151T|371|OTUD4|protein_coding|CODING|ENST00000514973|exon_4_146077088_146077148 . 0/1:99:255,0,255 . . 4 146077132 rs36225838 C T NON_SYNONYMOUS_CODING OTUD4 MODERATE|MISSENSE|Gct/Act|A216T|1114|OTUD4|protein_coding|CODING|ENST00000447906|exon_4_146077088_146077148 . 0/1:99:255,0,255 . . 4 146653620 rs10008599 G A NON_SYNONYMOUS_CODING C4orf51 MODERATE|MISSENSE|Gat/Aat|D173N|202|C4orf51|protein_coding|CODING|ENST00000438731|exon_4_146653605_146653949 . . 0/1:99:236,0,183 . 4 147560411 rs13152799 T C NON_SYNONYMOUS_CODING POU4F2 MODERATE|MISSENSE|aTc/aCc|I40T|409|POU4F2|protein_coding|CODING|ENST00000281321|exon_4_147560045_147560580 . . 0/1:81:95,0,78 . 4 151762137 rs192151626 C G NON_SYNONYMOUS_CODING LRBA MODERATE|MISSENSE|atG/atC|M123I|134|LRBA|protein_coding|CODING|ENST00000502839|exon_4_151761692_151762205 . . . 0/1:99:255,0,229 4 151793903 rs72719663 T C NON_SYNONYMOUS_CODING LRBA MODERATE|MISSENSE|Atc/Gtc|I724V|2575|LRBA|protein_coding|CODING|ENST00000507224|exon_4_151793815_151793907 . . 0/1:99:255,0,223 . 4 151793903 rs72719663 T C NON_SYNONYMOUS_CODING LRBA MODERATE|MISSENSE|Atc/Gtc|I724V|2851|LRBA|protein_coding|CODING|ENST00000510413|exon_4_151793815_151793907 . . 0/1:99:255,0,223 . 4 151793903 rs72719663 T C NON_SYNONYMOUS_CODING LRBA MODERATE|MISSENSE|Atc/Gtc|I724V|2852|LRBA|protein_coding|CODING|ENST00000535741|exon_4_151793815_151793907 . . 0/1:99:255,0,223 . 4 151793903 rs72719663 T C NON_SYNONYMOUS_CODING LRBA MODERATE|MISSENSE|Atc/Gtc|I724V|2863|LRBA|protein_coding|CODING|ENST00000357115|exon_4_151793815_151793907 . . 0/1:99:255,0,223 . 4 153791955 rs138548694 G C NON_SYNONYMOUS_CODING ARFIP1 MODERATE|MISSENSE|Gct/Cct|A85P|373|ARFIP1|protein_coding|CODING|ENST00000353617|exon_4_153791905_153792000 . . . 0/1:99:255,0,247 4 153791955 rs138548694 G C NON_SYNONYMOUS_CODING ARFIP1 MODERATE|MISSENSE|Gct/Cct|A85P|373|ARFIP1|protein_coding|CODING|ENST00000451320|exon_4_153791905_153792000 . . . 0/1:99:255,0,247 4 153874666 rs61753649 G A NON_SYNONYMOUS_CODING FHDC1 MODERATE|MISSENSE|Gca/Aca|A172T|1143|FHDC1|protein_coding|CODING|ENST00000260008|exon_4_153874651_153874712 0/1:99:255,0,230 . . . 4 153874666 rs61753649 G A NON_SYNONYMOUS_CODING FHDC1 MODERATE|MISSENSE|Gca/Aca|A172T|1143|FHDC1|protein_coding|CODING|ENST00000511601|exon_4_153874651_153874712 0/1:99:255,0,230 . . . 4 154557616 rs34343821 C T NON_SYNONYMOUS_CODING KIAA0922 MODERATE|MISSENSE|cCg/cTg|P1351L|1387|KIAA0922|protein_coding|CODING|ENST00000240487|exon_4_154557453_154557863 . . 0/1:99:197,0,255 . 4 154557616 rs34343821 C T NON_SYNONYMOUS_CODING KIAA0922 MODERATE|MISSENSE|cCg/cTg|P1490L|1526|KIAA0922|protein_coding|CODING|ENST00000440693|exon_4_154557453_154557860 . . 0/1:99:197,0,255 . 4 154557616 rs34343821 C T NON_SYNONYMOUS_CODING KIAA0922 MODERATE|MISSENSE|cCg/cTg|P1573L|1609|KIAA0922|protein_coding|CODING|ENST00000409663|exon_4_154557453_154557863 . . 0/1:99:197,0,255 . 4 154557616 rs34343821 C T NON_SYNONYMOUS_CODING KIAA0922 MODERATE|MISSENSE|cCg/cTg|P1574L|1610|KIAA0922|protein_coding|CODING|ENST00000409959|exon_4_154557453_154557863 . . 0/1:99:197,0,255 . 4 155219662 rs17031394 G C NON_SYNONYMOUS_CODING DCHS2 MODERATE|MISSENSE|aCa/aGa|T1480R|2916|DCHS2|protein_coding|CODING|ENST00000357232|exon_4_155219003_155219860 . . . 0/1:99:255,0,245 4 155244436 . G A NON_SYNONYMOUS_CODING DCHS2 MODERATE|MISSENSE|tCg/tTg|S1355L|1366|DCHS2|protein_coding|CODING|ENST00000544161|exon_4_155244429_155244481 . . 0/1:99:237,0,255 . 4 155244436 . G A NON_SYNONYMOUS_CODING DCHS2 MODERATE|MISSENSE|tCg/tTg|S1355L|1369|DCHS2|protein_coding|CODING|ENST00000339452|exon_4_155243806_155244481 . . 0/1:99:237,0,255 . 4 155410650 rs72731014 T C NON_SYNONYMOUS_CODING DCHS2 MODERATE|MISSENSE|Act/Gct|T613A|702|DCHS2|protein_coding|CODING|ENST00000456341|exon_4_155410456_155412486 . . 0/1:99:179,0,255 . 4 155410650 rs72731014 T C NON_SYNONYMOUS_CODING DCHS2 MODERATE|MISSENSE|Act/Gct|T620A|1366|DCHS2|protein_coding|CODING|ENST00000544161|exon_4_155410456_155412868 . . 0/1:99:179,0,255 . 4 155410650 rs72731014 T C NON_SYNONYMOUS_CODING DCHS2 MODERATE|MISSENSE|Act/Gct|T620A|1369|DCHS2|protein_coding|CODING|ENST00000339452|exon_4_155410456_155412868 . . 0/1:99:179,0,255 . 4 155410650 rs72731014 T C NON_SYNONYMOUS_CODING DCHS2 MODERATE|MISSENSE|Act/Gct|T620A|709|DCHS2|protein_coding|CODING|ENST00000443500|exon_4_155410456_155412930 . . 0/1:99:179,0,255 . 4 155410667 rs55810732 G A NON_SYNONYMOUS_CODING DCHS2 MODERATE|MISSENSE|gCg/gTg|A607V|702|DCHS2|protein_coding|CODING|ENST00000456341|exon_4_155410456_155412486 . . 0/1:99:185,0,255 . 4 155410667 rs55810732 G A NON_SYNONYMOUS_CODING DCHS2 MODERATE|MISSENSE|gCg/gTg|A614V|1366|DCHS2|protein_coding|CODING|ENST00000544161|exon_4_155410456_155412868 . . 0/1:99:185,0,255 . 4 155410667 rs55810732 G A NON_SYNONYMOUS_CODING DCHS2 MODERATE|MISSENSE|gCg/gTg|A614V|1369|DCHS2|protein_coding|CODING|ENST00000339452|exon_4_155410456_155412868 . . 0/1:99:185,0,255 . 4 155410667 rs55810732 G A NON_SYNONYMOUS_CODING DCHS2 MODERATE|MISSENSE|gCg/gTg|A614V|709|DCHS2|protein_coding|CODING|ENST00000443500|exon_4_155410456_155412930 . . 0/1:99:185,0,255 . 4 155410731 rs72731016 G C NON_SYNONYMOUS_CODING DCHS2 MODERATE|MISSENSE|Caa/Gaa|Q586E|702|DCHS2|protein_coding|CODING|ENST00000456341|exon_4_155410456_155412486 . . 0/1:99:169,0,255 . 4 155410731 rs72731016 G C NON_SYNONYMOUS_CODING DCHS2 MODERATE|MISSENSE|Caa/Gaa|Q593E|1366|DCHS2|protein_coding|CODING|ENST00000544161|exon_4_155410456_155412868 . . 0/1:99:169,0,255 . 4 155410731 rs72731016 G C NON_SYNONYMOUS_CODING DCHS2 MODERATE|MISSENSE|Caa/Gaa|Q593E|1369|DCHS2|protein_coding|CODING|ENST00000339452|exon_4_155410456_155412868 . . 0/1:99:169,0,255 . 4 155410731 rs72731016 G C NON_SYNONYMOUS_CODING DCHS2 MODERATE|MISSENSE|Caa/Gaa|Q593E|709|DCHS2|protein_coding|CODING|ENST00000443500|exon_4_155410456_155412930 . . 0/1:99:169,0,255 . 4 155411883 rs17373860 G A NON_SYNONYMOUS_CODING DCHS2 MODERATE|MISSENSE|Ccg/Tcg|P202S|702|DCHS2|protein_coding|CODING|ENST00000456341|exon_4_155410456_155412486 . 0/1:99:249,0,240 . . 4 155411883 rs17373860 G A NON_SYNONYMOUS_CODING DCHS2 MODERATE|MISSENSE|Ccg/Tcg|P209S|1366|DCHS2|protein_coding|CODING|ENST00000544161|exon_4_155410456_155412868 . 0/1:99:249,0,240 . . 4 155411883 rs17373860 G A NON_SYNONYMOUS_CODING DCHS2 MODERATE|MISSENSE|Ccg/Tcg|P209S|1369|DCHS2|protein_coding|CODING|ENST00000339452|exon_4_155410456_155412868 . 0/1:99:249,0,240 . . 4 155411883 rs17373860 G A NON_SYNONYMOUS_CODING DCHS2 MODERATE|MISSENSE|Ccg/Tcg|P209S|709|DCHS2|protein_coding|CODING|ENST00000443500|exon_4_155410456_155412930 . 0/1:99:249,0,240 . . 4 156294480 rs145507132 A G NON_SYNONYMOUS_CODING MAP9 MODERATE|MISSENSE|Tca/Cca|S25P|190|MAP9|protein_coding|CODING|ENST00000379248|exon_4_156294288_156294608 . . 0/1:99:255,0,255 . 4 156294480 rs145507132 A G NON_SYNONYMOUS_CODING MAP9 MODERATE|MISSENSE|Tca/Cca|S97P|376|MAP9|protein_coding|CODING|ENST00000393836|exon_4_156294288_156294608 . . 0/1:99:255,0,255 . 4 156294480 rs145507132 A G NON_SYNONYMOUS_CODING MAP9 MODERATE|MISSENSE|Tca/Cca|S97P|487|MAP9|protein_coding|CODING|ENST00000433024|exon_4_156294288_156294608 . . 0/1:99:255,0,255 . 4 156294480 rs145507132 A G NON_SYNONYMOUS_CODING MAP9 MODERATE|MISSENSE|Tca/Cca|S97P|623|MAP9|protein_coding|CODING|ENST00000515654|exon_4_156294288_156294608 . . 0/1:99:255,0,255 . 4 156294480 rs145507132 A G NON_SYNONYMOUS_CODING MAP9 MODERATE|MISSENSE|Tca/Cca|S97P|647|MAP9|protein_coding|CODING|ENST00000311277|exon_4_156294288_156294608 . . 0/1:99:255,0,255 . 4 162307000 rs17040982 T C NON_SYNONYMOUS_CODING FSTL5 MODERATE|MISSENSE|Aag/Gag|K805E|837|FSTL5|protein_coding|CODING|ENST00000427802|exon_4_162306899_162307601 . . . 0/1:99:230,0,255 4 162307000 rs17040982 T C NON_SYNONYMOUS_CODING FSTL5 MODERATE|MISSENSE|Aag/Gag|K814E|846|FSTL5|protein_coding|CODING|ENST00000379164|exon_4_162305051_162307601 . . . 0/1:99:230,0,255 4 162307000 rs17040982 T C NON_SYNONYMOUS_CODING FSTL5 MODERATE|MISSENSE|Aag/Gag|K814E|846|FSTL5|protein_coding|CODING|ENST00000536695|exon_4_162306899_162307601 . . . 0/1:99:230,0,255 4 162307000 rs17040982 T C NON_SYNONYMOUS_CODING FSTL5 MODERATE|MISSENSE|Aag/Gag|K815E|847|FSTL5|protein_coding|CODING|ENST00000306100|exon_4_162305049_162307601 . . . 0/1:99:230,0,255 4 164533702 rs17657468 T C NON_SYNONYMOUS_CODING MARCH1 MODERATE|MISSENSE|aAc/aGc|N244S|545|MARCH1|protein_coding|CODING|ENST00000514618|exon_4_164533423_164534190 0/1:99:255,0,255 . . . 4 167020644 rs2291822 A G NON_SYNONYMOUS_CODING TLL1 MODERATE|MISSENSE|Aca/Gca|T958A|1013|TLL1|protein_coding|CODING|ENST00000061240|exon_4_167020429_167020679 1/1:99:255,111,0 . . . 4 167020644 rs2291822 A G NON_SYNONYMOUS_CODING TLL1 MODERATE|MISSENSE|Aca/Gca|T981A|1036|TLL1|protein_coding|CODING|ENST00000507499|exon_4_167020429_167020679 1/1:99:255,111,0 . . . 4 169143007 rs150280711 T C NON_SYNONYMOUS_CODING DDX60 MODERATE|MISSENSE|aAt/aGt|N1617S|1712|DDX60|protein_coding|CODING|ENST00000393743|exon_4_169142881_169143032 0/1:99:255,0,255 . . . 4 169182043 rs142627596 A G NON_SYNONYMOUS_CODING DDX60 MODERATE|MISSENSE|aTg/aCg|M1124T|1712|DDX60|protein_coding|CODING|ENST00000393743|exon_4_169182016_169182140 0/1:99:255,0,230 . . . 4 169182043 rs142627596 A G NON_SYNONYMOUS_CODING DDX60 MODERATE|MISSENSE|aTg/aCg|M216T|294|DDX60|protein_coding|CODING|ENST00000537338|exon_4_169182016_169182140 0/1:99:255,0,230 . . . 4 169798978 rs186421929 C A NON_SYNONYMOUS_CODING PALLD MODERATE|MISSENSE|cCc/cAc|P308H|1001|PALLD|protein_coding|CODING|ENST00000335742|exon_4_169798874_169799545 0/1:99:146,0,133 . . . 4 175898555 rs78280171 C T NON_SYNONYMOUS_CODING ADAM29 MODERATE|MISSENSE|Cct/Tct|P627S|820|ADAM29|protein_coding|CODING|ENST00000359240|exon_4_175896497_175899331 0/1:99:255,0,199 . . . 4 175898555 rs78280171 C T NON_SYNONYMOUS_CODING ADAM29 MODERATE|MISSENSE|Cct/Tct|P627S|820|ADAM29|protein_coding|CODING|ENST00000404450|exon_4_175896497_175899312 0/1:99:255,0,199 . . . 4 175898555 rs78280171 C T NON_SYNONYMOUS_CODING ADAM29 MODERATE|MISSENSE|Cct/Tct|P627S|820|ADAM29|protein_coding|CODING|ENST00000445694|exon_4_175896497_175899331 0/1:99:255,0,199 . . . 4 175898555 rs78280171 C T NON_SYNONYMOUS_CODING ADAM29 MODERATE|MISSENSE|Cct/Tct|P627S|820|ADAM29|protein_coding|CODING|ENST00000514159|exon_4_175896497_175899256 0/1:99:255,0,199 . . . 4 177095773 rs72706355 G A NON_SYNONYMOUS_CODING WDR17 MODERATE|MISSENSE|cGa/cAa|R1118Q|1283|WDR17|protein_coding|CODING|ENST00000508596|exon_4_177095768_177095869 . . . 0/1:99:255,0,243 4 177095773 rs72706355 G A NON_SYNONYMOUS_CODING WDR17 MODERATE|MISSENSE|cGa/cAa|R1133Q|1298|WDR17|protein_coding|CODING|ENST00000393643|exon_4_177095768_177095869 . . . 0/1:99:255,0,243 4 177095773 rs72706355 G A NON_SYNONYMOUS_CODING WDR17 MODERATE|MISSENSE|cGa/cAa|R1133Q|1298|WDR17|protein_coding|CODING|ENST00000507824|exon_4_177095768_177095869 . . . 0/1:99:255,0,243 4 177095773 rs72706355 G A NON_SYNONYMOUS_CODING WDR17 MODERATE|MISSENSE|cGa/cAa|R1157Q|1322|WDR17|protein_coding|CODING|ENST00000280190|exon_4_177095768_177095869 . . . 0/1:99:255,0,243 4 178256913 rs7689099 C G NON_SYNONYMOUS_CODING NEIL3 MODERATE|MISSENSE|cCt/cGt|P117R|605|NEIL3|protein_coding|CODING|ENST00000264596|exon_4_178256842_178256976 . . . 0/1:99:255,0,255 4 183550003 . G T NON_SYNONYMOUS_CODING ODZ3 MODERATE|MISSENSE|Gtc/Ttc|V175F|181|ODZ3|protein_coding|CODING|ENST00000510504|exon_4_183549804_183550028 0/1:99:252,0,255 . . . 4 183550003 . G T NON_SYNONYMOUS_CODING ODZ3 MODERATE|MISSENSE|Gtc/Ttc|V317F|2699|ODZ3|protein_coding|CODING|ENST00000406950|exon_4_183549804_183550042 0/1:99:252,0,255 . . . 4 183550003 . G T NON_SYNONYMOUS_CODING ODZ3 MODERATE|MISSENSE|Gtc/Ttc|V317F|2699|ODZ3|protein_coding|CODING|ENST00000511685|exon_4_183549804_183550042 0/1:99:252,0,255 . . . 4 183721275 rs199649207 C G NON_SYNONYMOUS_CODING ODZ3 MODERATE|MISSENSE|gCg/gGg|A2624G|2699|ODZ3|protein_coding|CODING|ENST00000406950|exon_4_183720749_183721832 . . 0/1:99:155,0,110 . 4 183721275 rs199649207 C G NON_SYNONYMOUS_CODING ODZ3 MODERATE|MISSENSE|gCg/gGg|A2624G|2699|ODZ3|protein_coding|CODING|ENST00000511685|exon_4_183720749_183724177 . . 0/1:99:155,0,110 . 4 184930646 rs61730738 G A NON_SYNONYMOUS_CODING STOX2 MODERATE|MISSENSE|Gcc/Acc|A219T|863|STOX2|protein_coding|CODING|ENST00000438269|exon_4_184930311_184932576 . . . 0/1:99:186,0,255 4 184930646 rs61730738 G A NON_SYNONYMOUS_CODING STOX2 MODERATE|MISSENSE|Gcc/Acc|A219T|926|STOX2|protein_coding|CODING|ENST00000308497|exon_4_184930311_184932576 . . . 0/1:99:186,0,255 4 185599489 rs34985821 G A NON_SYNONYMOUS_CODING CCDC111 MODERATE|MISSENSE|aGt/aAt|S20N|171|CCDC111|protein_coding|CODING|ENST00000508001|exon_4_185599431_185599548 . . . 0/1:99:255,0,255 4 185615764 rs14969 C A NON_SYNONYMOUS_CODING CCDC111 MODERATE|MISSENSE|aCa/aAa|T376K|431|CCDC111|protein_coding|CODING|ENST00000515774|exon_4_185615676_185616117 . . . 0/1:99:178,0,255 4 185615764 rs14969 C A NON_SYNONYMOUS_CODING CCDC111 MODERATE|MISSENSE|aCa/aAa|T504K|559|CCDC111|protein_coding|CODING|ENST00000512834|exon_4_185615676_185616106 . . . 0/1:99:178,0,255 4 185615764 rs14969 C A NON_SYNONYMOUS_CODING CCDC111 MODERATE|MISSENSE|aCa/aAa|T505K|560|CCDC111|protein_coding|CODING|ENST00000314970|exon_4_185615676_185616106 . . . 0/1:99:178,0,255 4 185615764 rs14969 C A NON_SYNONYMOUS_CODING CCDC111 MODERATE|MISSENSE|aCa/aAa|T505K|560|CCDC111|protein_coding|CODING|ENST00000503752|exon_4_185615676_185616070 . . . 0/1:99:178,0,255 4 185620751 rs6552802 C G NON_SYNONYMOUS_CODING MLF1IP MODERATE|MISSENSE|tGg/tCg|W331S|337|MLF1IP|protein_coding|CODING|ENST00000541971|exon_4_185620729_185620756 . . . 0/1:99:218,0,226 4 185634144 rs4616798 T C NON_SYNONYMOUS_CODING MLF1IP MODERATE|MISSENSE|atA/atG|I214M|320|MLF1IP|protein_coding|CODING|ENST00000541665|exon_4_185634098_185634167 . . . 0/1:99:255,0,255 4 185634144 rs4616798 T C NON_SYNONYMOUS_CODING MLF1IP MODERATE|MISSENSE|atA/atG|I214M|337|MLF1IP|protein_coding|CODING|ENST00000541971|exon_4_185634098_185634167 . . . 0/1:99:255,0,255 4 185634144 rs4616798 T C NON_SYNONYMOUS_CODING MLF1IP MODERATE|MISSENSE|atA/atG|I214M|418|MLF1IP|protein_coding|CODING|ENST00000281453|exon_4_185634098_185634167 . . . 0/1:99:255,0,255 4 185637699 rs6552804 A G NON_SYNONYMOUS_CODING MLF1IP MODERATE|MISSENSE|aTa/aCa|I128T|176|MLF1IP|protein_coding|CODING|ENST00000514781|exon_4_185637551_185637787 . . . 0/1:99:185,0,255 4 185637699 rs6552804 A G NON_SYNONYMOUS_CODING MLF1IP MODERATE|MISSENSE|aTa/aCa|I157T|320|MLF1IP|protein_coding|CODING|ENST00000541665|exon_4_185637551_185637787 . . . 0/1:99:185,0,255 4 185637699 rs6552804 A G NON_SYNONYMOUS_CODING MLF1IP MODERATE|MISSENSE|aTa/aCa|I157T|337|MLF1IP|protein_coding|CODING|ENST00000541971|exon_4_185637551_185637787 . . . 0/1:99:185,0,255 4 185637699 rs6552804 A G NON_SYNONYMOUS_CODING MLF1IP MODERATE|MISSENSE|aTa/aCa|I157T|418|MLF1IP|protein_coding|CODING|ENST00000281453|exon_4_185637551_185637787 . . . 0/1:99:185,0,255 4 185655192 rs876839 G C NON_SYNONYMOUS_CODING MLF1IP MODERATE|MISSENSE|Ccg/Gcg|P9A|320|MLF1IP|protein_coding|CODING|ENST00000541665|exon_4_185655172_185655284 . . . 0/1:99:188,0,116 4 185655192 rs876839 G C NON_SYNONYMOUS_CODING MLF1IP MODERATE|MISSENSE|Ccg/Gcg|P9A|337|MLF1IP|protein_coding|CODING|ENST00000541971|exon_4_185655170_185655216 . . . 0/1:99:188,0,116 4 185655192 rs876839 G C NON_SYNONYMOUS_CODING MLF1IP MODERATE|MISSENSE|Ccg/Gcg|P9A|418|MLF1IP|protein_coding|CODING|ENST00000281453|exon_4_185655170_185655287 . . . 0/1:99:188,0,116 4 186112208 rs116632163 G T NON_SYNONYMOUS_CODING KIAA1430 MODERATE|MISSENSE|aCa/aAa|T48K|142|KIAA1430|protein_coding|CODING|ENST00000503223|exon_4_186111922_186112366 . . . 0/1:99:255,0,255 4 186112208 rs116632163 G T NON_SYNONYMOUS_CODING KIAA1430 MODERATE|MISSENSE|aCa/aAa|T48K|453|KIAA1430|protein_coding|CODING|ENST00000296775|exon_4_186111297_186112366 . . . 0/1:99:255,0,255 4 186112208 rs116632163 G T NON_SYNONYMOUS_CODING KIAA1430 MODERATE|MISSENSE|aCa/aAa|T48K|453|KIAA1430|protein_coding|CODING|ENST00000514798|exon_4_186111297_186112366 . . . 0/1:99:255,0,255 4 186112208 rs116632163 G T NON_SYNONYMOUS_CODING KIAA1430 MODERATE|MISSENSE|aCa/aAa|T48K|532|KIAA1430|protein_coding|CODING|ENST00000458385|exon_4_186111297_186112366 . . . 0/1:99:255,0,255 4 187130127 rs199476203 G A NON_SYNONYMOUS_CODING CYP4V2 MODERATE|MISSENSE|cGt/cAt|R378H|503|CYP4V2|protein_coding|CODING|ENST00000274118|exon_4_187130019_187130153 . . . 0/1:99:255,0,231 4 187130127 rs199476203 G A NON_SYNONYMOUS_CODING CYP4V2 MODERATE|MISSENSE|cGt/cAt|R400H|525|CYP4V2|protein_coding|CODING|ENST00000378802|exon_4_187130019_187130153 . . . 0/1:99:255,0,231 4 187177217 rs143680259 G A NON_SYNONYMOUS_CODING KLKB1 MODERATE|MISSENSE|Gga/Aga|G483R|514|KLKB1|protein_coding|CODING|ENST00000418715|exon_4_187177146_187177241 . . 0/1:99:232,0,255 . 4 187177217 rs143680259 G A NON_SYNONYMOUS_CODING KLKB1 MODERATE|MISSENSE|Gga/Aga|G521R|552|KLKB1|protein_coding|CODING|ENST00000513864|exon_4_187177146_187177241 . . 0/1:99:232,0,255 . 4 187177217 rs143680259 G A NON_SYNONYMOUS_CODING KLKB1 MODERATE|MISSENSE|Gga/Aga|G521R|638|KLKB1|protein_coding|CODING|ENST00000264690|exon_4_187177146_187177241 . . 0/1:99:232,0,255 . 4 187509931 rs192609167 C T NON_SYNONYMOUS_CODING FAT1 MODERATE|MISSENSE|Gag/Aag|E4528K|4588|FAT1|protein_coding|CODING|ENST00000441802|exon_4_187508937_187510374 . 0/1:99:255,0,164 . . 4 187509931 rs192609167 C T NON_SYNONYMOUS_CODING FAT1 MODERATE|MISSENSE|Gag/Aag|E4530K|4590|FAT1|protein_coding|CODING|ENST00000260147|exon_4_187508949_187510374 . 0/1:99:255,0,164 . . 4 187531022 rs28647489 A G NON_SYNONYMOUS_CODING FAT1 MODERATE|MISSENSE|gTg/gCg|V3334A|4588|FAT1|protein_coding|CODING|ENST00000441802|exon_4_187530955_187531169 0/1:99:214,0,255 . . . 4 187531022 rs28647489 A G NON_SYNONYMOUS_CODING FAT1 MODERATE|MISSENSE|gTg/gCg|V3336A|4590|FAT1|protein_coding|CODING|ENST00000260147|exon_4_187530955_187531169 0/1:99:214,0,255 . . . 4 187542755 rs28489116 T C NON_SYNONYMOUS_CODING FAT1 MODERATE|MISSENSE|aAc/aGc|N1662S|4588|FAT1|protein_coding|CODING|ENST00000441802|exon_4_187538862_187542929 0/1:99:255,0,255 . . . 4 187542755 rs28489116 T C NON_SYNONYMOUS_CODING FAT1 MODERATE|MISSENSE|aAc/aGc|N1664S|4590|FAT1|protein_coding|CODING|ENST00000260147|exon_4_187538862_187542929 0/1:99:255,0,255 . . . 4 187542899 rs183343406 G A NON_SYNONYMOUS_CODING FAT1 MODERATE|MISSENSE|cCt/cTt|P1614L|4588|FAT1|protein_coding|CODING|ENST00000441802|exon_4_187538862_187542929 . . . 0/1:99:255,0,255 4 187542899 rs183343406 G A NON_SYNONYMOUS_CODING FAT1 MODERATE|MISSENSE|cCt/cTt|P1616L|4590|FAT1|protein_coding|CODING|ENST00000260147|exon_4_187538862_187542929 . . . 0/1:99:255,0,255 4 187630099 rs61733573 C T NON_SYNONYMOUS_CODING FAT1 MODERATE|MISSENSE|Gtg/Atg|V295M|4588|FAT1|protein_coding|CODING|ENST00000441802|exon_4_187627717_187630999 . . . 0/1:99:255,0,245 4 187630099 rs61733573 C T NON_SYNONYMOUS_CODING FAT1 MODERATE|MISSENSE|Gtg/Atg|V295M|4590|FAT1|protein_coding|CODING|ENST00000260147|exon_4_187627717_187630999 . . . 0/1:99:255,0,245 4 187630099 rs61733573 C T NON_SYNONYMOUS_CODING FAT1 MODERATE|MISSENSE|Gtg/Atg|V295M|487|FAT1|protein_coding|CODING|ENST00000509647|exon_4_187629517_187630999 . . . 0/1:99:255,0,245 4 190881942 rs140177237 G A NON_SYNONYMOUS_CODING FRG1 MODERATE|MISSENSE|Gac/Aac|D193N|258|FRG1|protein_coding|CODING|ENST00000226798|exon_4_190881903_190881994 0/1:99:244,0,245 . . . 4 190881942 rs140177237 G A NON_SYNONYMOUS_CODING FRG1 MODERATE|MISSENSE|Gac/Aac|D65N|101|FRG1|protein_coding|CODING|ENST00000524583|exon_4_190881903_190881994 0/1:99:244,0,245 . . . 5 637637 rs62000999 A G NON_SYNONYMOUS_CODING CEP72 MODERATE|MISSENSE|Atg/Gtg|M304V|647|CEP72|protein_coding|CODING|ENST00000264935|exon_5_637632_637933 . . . 0/1:96:93,0,236 5 653145 rs62000998 C G NON_SYNONYMOUS_CODING CEP72 MODERATE|MISSENSE|agC/agG|S607R|647|CEP72|protein_coding|CODING|ENST00000264935|exon_5_653103_653668 . 0/1:99:255,0,255 . . 5 716953 rs11748638 C T NON_SYNONYMOUS_CODING ZDHHC11B MODERATE|MISSENSE|atG/atA|M362I|371|ZDHHC11B|protein_coding|CODING|ENST00000382776|exon_5_716916_716980 0/1:99:201,0,255 . . 0/1:99:187,0,255 5 716953 rs11748638 C T NON_SYNONYMOUS_CODING ZDHHC11B MODERATE|MISSENSE|atG/atA|M373I|382|ZDHHC11B|protein_coding|CODING|ENST00000508859|exon_5_716916_716980 0/1:99:201,0,255 . . 0/1:99:187,0,255 5 766848 rs181409792 G A NON_SYNONYMOUS_CODING ZDHHC11B MODERATE|MISSENSE|Ctc/Ttc|L63F|371|ZDHHC11B|protein_coding|CODING|ENST00000382776|exon_5_766813_767034 . 0/1:99:197,0,114 . . 5 766848 rs181409792 G A NON_SYNONYMOUS_CODING ZDHHC11B MODERATE|MISSENSE|Ctc/Ttc|L74F|382|ZDHHC11B|protein_coding|CODING|ENST00000508859|exon_5_766813_767067 . 0/1:99:197,0,114 . . 5 766863 . T C NON_SYNONYMOUS_CODING ZDHHC11B MODERATE|MISSENSE|Agg/Ggg|R58G|371|ZDHHC11B|protein_coding|CODING|ENST00000382776|exon_5_766813_767034 . 0/1:99:228,0,161 . . 5 766863 . T C NON_SYNONYMOUS_CODING ZDHHC11B MODERATE|MISSENSE|Agg/Ggg|R69G|382|ZDHHC11B|protein_coding|CODING|ENST00000508859|exon_5_766813_767067 . 0/1:99:228,0,161 . . 5 801252 rs142091140 C T NON_SYNONYMOUS_CODING ZDHHC11 MODERATE|MISSENSE|atG/atA|M403I|412|ZDHHC11|protein_coding|CODING|ENST00000283441|exon_5_801215_801279 . . . 0/1:93:90,0,255 5 801252 rs142091140 C T NON_SYNONYMOUS_CODING ZDHHC11 MODERATE|MISSENSE|atG/atA|M403I|412|ZDHHC11|protein_coding|CODING|ENST00000424784|exon_5_801215_801279 . . . 0/1:93:90,0,255 5 825280 rs1809008 C T NON_SYNONYMOUS_CODING ZDHHC11 MODERATE|MISSENSE|cGg/cAg|R341Q|412|ZDHHC11|protein_coding|CODING|ENST00000283441|exon_5_825279_825366 . . . 1/1:99:255,51,0 5 825280 rs1809008 C T NON_SYNONYMOUS_CODING ZDHHC11 MODERATE|MISSENSE|cGg/cAg|R341Q|412|ZDHHC11|protein_coding|CODING|ENST00000424784|exon_5_825279_825366 . . . 1/1:99:255,51,0 5 1232408 rs113861454 G A NON_SYNONYMOUS_CODING SLC6A18 MODERATE|MISSENSE|Ggc/Agc|G79S|397|SLC6A18|protein_coding|CODING|ENST00000296821|exon_5_1232334_1232474 . . 0/1:99:250,0,188 . 5 1232408 rs113861454 G A NON_SYNONYMOUS_CODING SLC6A18 MODERATE|MISSENSE|Ggc/Agc|G79S|628|SLC6A18|protein_coding|CODING|ENST00000324642|exon_5_1232334_1232474 . . 0/1:99:250,0,188 . 5 1294166 rs61748181 C T NON_SYNONYMOUS_CODING TERT MODERATE|MISSENSE|Gcc/Acc|A279T|1069|TERT|protein_coding|CODING|ENST00000334602|exon_5_1293428_1294781 . 0/1:99:204,0,188 . . 5 1294166 rs61748181 C T NON_SYNONYMOUS_CODING TERT MODERATE|MISSENSE|Gcc/Acc|A279T|1132|TERT|protein_coding|CODING|ENST00000310581|exon_5_1293428_1294781 . 0/1:99:204,0,188 . . 5 1294166 rs61748181 C T NON_SYNONYMOUS_CODING TERT MODERATE|MISSENSE|Gcc/Acc|A279T|807|TERT|protein_coding|CODING|ENST00000296820|exon_5_1293428_1294781 . 0/1:99:204,0,188 . . 5 1294166 rs61748181 C T NON_SYNONYMOUS_CODING TERT MODERATE|MISSENSE|Gcc/Acc|A279T|807|TERT|protein_coding|CODING|ENST00000508104|exon_5_1293428_1294781 . 0/1:99:204,0,188 . . 5 1880891 rs2232376 C T NON_SYNONYMOUS_CODING IRX4 MODERATE|MISSENSE|Gct/Act|A119T|215|IRX4|protein_coding|CODING|ENST00000511126|exon_5_1880839_1880948 . . . 0/1:73:71,0,75 5 1880891 rs2232376 C T NON_SYNONYMOUS_CODING IRX4 MODERATE|MISSENSE|Gct/Act|A119T|519|IRX4|protein_coding|CODING|ENST00000231357|exon_5_1880839_1880948 . . . 0/1:73:71,0,75 5 1880891 rs2232376 C T NON_SYNONYMOUS_CODING IRX4 MODERATE|MISSENSE|Gct/Act|A119T|519|IRX4|protein_coding|CODING|ENST00000505790|exon_5_1880839_1880948 . . . 0/1:73:71,0,75 5 1880891 rs2232376 C T NON_SYNONYMOUS_CODING IRX4 MODERATE|MISSENSE|Gct/Act|A119T|519|IRX4|protein_coding|CODING|ENST00000513692|exon_5_1880839_1880948 . . . 0/1:73:71,0,75 5 3596311 . C T NON_SYNONYMOUS_CODING IRX1 MODERATE|MISSENSE|gCc/gTc|A31V|480|IRX1|protein_coding|CODING|ENST00000302006|exon_5_3596168_3596495 1/1:10:59,6,0 . . . 5 5318308 . G T NON_SYNONYMOUS_CODING ADAMTS16 MODERATE|MISSENSE|cGg/cTg|R1158L|1224|ADAMTS16|protein_coding|CODING|ENST00000274181|exon_5_5318247_5318394 . 0/1:99:218,0,255 . . 5 6600064 rs61744358 G T NON_SYNONYMOUS_CODING NSUN2 MODERATE|MISSENSE|cCg/cAg|P524Q|531|NSUN2|protein_coding|CODING|ENST00000539938|exon_5_6599353_6600345 . . 0/1:99:153,0,255 . 5 6600064 rs61744358 G T NON_SYNONYMOUS_CODING NSUN2 MODERATE|MISSENSE|cCg/cAg|P725Q|732|NSUN2|protein_coding|CODING|ENST00000506139|exon_5_6599682_6600345 . . 0/1:99:153,0,255 . 5 6600064 rs61744358 G T NON_SYNONYMOUS_CODING NSUN2 MODERATE|MISSENSE|cCg/cAg|P760Q|767|NSUN2|protein_coding|CODING|ENST00000264670|exon_5_6599352_6600345 . . 0/1:99:153,0,255 . 5 7520881 rs13166360 G T NON_SYNONYMOUS_CODING ADCY2 MODERATE|MISSENSE|Gtg/Ttg|V147L|1091|ADCY2|protein_coding|CODING|ENST00000338316|exon_5_7520851_7521012 . 0/1:99:255,0,255 . 0/1:99:211,0,255 5 7757647 rs52827085 C G NON_SYNONYMOUS_CODING ADCY2 MODERATE|MISSENSE|tCt/tGt|S501C|911|ADCY2|protein_coding|CODING|ENST00000537121|exon_5_7757562_7757699 . . 0/1:99:249,0,255 0/1:99:255,0,207 5 7757647 rs52827085 C G NON_SYNONYMOUS_CODING ADCY2 MODERATE|MISSENSE|tCt/tGt|S514C|924|ADCY2|protein_coding|CODING|ENST00000541993|exon_5_7757562_7757699 . . 0/1:99:249,0,255 0/1:99:255,0,207 5 7757647 rs52827085 C G NON_SYNONYMOUS_CODING ADCY2 MODERATE|MISSENSE|tCt/tGt|S681C|1091|ADCY2|protein_coding|CODING|ENST00000338316|exon_5_7757562_7757699 . . 0/1:99:249,0,255 0/1:99:255,0,207 5 7835555 rs6883562 C G NON_SYNONYMOUS_CODING C5orf49 MODERATE|MISSENSE|caG/caC|Q68H|145|C5orf49|protein_coding|CODING|ENST00000509627|exon_5_7835495_7835611 . 0/1:99:255,0,255 0/1:99:255,0,255 . 5 7835555 rs6883562 C G NON_SYNONYMOUS_CODING C5orf49 MODERATE|MISSENSE|caG/caC|Q68H|147|C5orf49|protein_coding|CODING|ENST00000399810|exon_5_7835495_7835611 . 0/1:99:255,0,255 0/1:99:255,0,255 . 5 7867477 . TATAAT TAT CODON_DELETION FASTKD3 MODERATE||att/-|I239-|243|FASTKD3|protein_coding|CODING|ENST00000504695|exon_5_7867463_7868220 . 0/1:99:255,0,255 . . 5 7867477 . TATAAT TAT CODON_DELETION FASTKD3 MODERATE||att/-|I239-|662|FASTKD3|protein_coding|CODING|ENST00000264669|exon_5_7866759_7868309 . 0/1:99:255,0,255 . . 5 7883356 rs144899305 T C NON_SYNONYMOUS_CODING MTRR MODERATE|MISSENSE|aTa/aCa|I290T|698|MTRR|protein_coding|CODING|ENST00000440940|exon_5_7883268_7883390 . . 0/1:99:237,0,255 . 5 7883356 rs144899305 T C NON_SYNONYMOUS_CODING MTRR MODERATE|MISSENSE|aTa/aCa|I317T|725|MTRR|protein_coding|CODING|ENST00000264668|exon_5_7883268_7883390 . . 0/1:99:237,0,255 . 5 13900321 rs115004914 G T NON_SYNONYMOUS_CODING DNAH5 MODERATE|MISSENSE|aaC/aaA|N751K|4624|DNAH5|protein_coding|CODING|ENST00000265104|exon_5_13900315_13900521 0/1:99:255,0,255 . . . 5 14359525 rs201514384 C T NON_SYNONYMOUS_CODING TRIO MODERATE|MISSENSE|aCg/aTg|T446M|2500|TRIO|protein_coding|CODING|ENST00000513206|exon_5_14359466_14359640 . . . 0/1:99:120,0,255 5 14359525 rs201514384 C T NON_SYNONYMOUS_CODING TRIO MODERATE|MISSENSE|aCg/aTg|T710M|1508|TRIO|protein_coding|CODING|ENST00000509967|exon_5_14359466_14359640 . . . 0/1:99:120,0,255 5 14359525 rs201514384 C T NON_SYNONYMOUS_CODING TRIO MODERATE|MISSENSE|aCg/aTg|T759M|2921|TRIO|protein_coding|CODING|ENST00000537187|exon_5_14359466_14359640 . . . 0/1:99:120,0,255 5 14359525 rs201514384 C T NON_SYNONYMOUS_CODING TRIO MODERATE|MISSENSE|aCg/aTg|T759M|3097|TRIO|protein_coding|CODING|ENST00000344204|exon_5_14359466_14359640 . . . 0/1:99:120,0,255 5 14582058 rs116803888 C G NON_SYNONYMOUS_CODING FAM105A MODERATE|MISSENSE|Ccc/Gcc|P19A|356|FAM105A|protein_coding|CODING|ENST00000274217|exon_5_14581884_14582067 . 0/1:77:124,0,74 . . 5 23509200 rs184600328 C T NON_SYNONYMOUS_CODING PRDM9 MODERATE|MISSENSE|Cgg/Tgg|R20W|894|PRDM9|protein_coding|CODING|ENST00000296682|exon_5_23509059_23509211 . . 0/1:99:230,0,255 . 5 23509200 rs184600328 C T NON_SYNONYMOUS_CODING PRDM9 MODERATE|MISSENSE|Cgg/Tgg|R20W|99|PRDM9|protein_coding|CODING|ENST00000502755|exon_5_23509059_23509211 . . 0/1:99:230,0,255 . 5 23527323 rs200539936 C G NON_SYNONYMOUS_CODING PRDM9 MODERATE|MISSENSE|aCt/aGt|T709S|894|PRDM9|protein_coding|CODING|ENST00000296682|exon_5_23526342_23528706 . . . 0/1:72:69,0,217 5 23527637 rs61051796 A C NON_SYNONYMOUS_CODING PRDM9 MODERATE|MISSENSE|Agc/Cgc|S814R|894|PRDM9|protein_coding|CODING|ENST00000296682|exon_5_23526342_23528706 0/1:92:89,0,126 . . . 5 32074252 rs61745924 G A NON_SYNONYMOUS_CODING PDZD2 MODERATE|MISSENSE|Gtc/Atc|V1014I|2839|PDZD2|protein_coding|CODING|ENST00000282493|exon_5_32073938_32074749 . . 0/1:99:212,0,255 . 5 32074252 rs61745924 G A NON_SYNONYMOUS_CODING PDZD2 MODERATE|MISSENSE|Gtc/Atc|V1014I|2839|PDZD2|protein_coding|CODING|ENST00000438447|exon_5_32073938_32074749 . . 0/1:99:212,0,255 . 5 32074252 rs61745924 G A NON_SYNONYMOUS_CODING PDZD2 MODERATE|MISSENSE|Gtc/Atc|V816I|2640|PDZD2|protein_coding|CODING|ENST00000382161|exon_5_32073944_32074749 . . 0/1:99:212,0,255 . 5 32087583 rs12520467 C A NON_SYNONYMOUS_CODING PDZD2 MODERATE|MISSENSE|gaC/gaA|D1144E|2640|PDZD2|protein_coding|CODING|ENST00000382161|exon_5_32087249_32091281 0/1:99:170,0,220 . . . 5 32087583 rs12520467 C A NON_SYNONYMOUS_CODING PDZD2 MODERATE|MISSENSE|gaC/gaA|D1343E|2839|PDZD2|protein_coding|CODING|ENST00000282493|exon_5_32087237_32091281 0/1:99:170,0,220 . . . 5 32087583 rs12520467 C A NON_SYNONYMOUS_CODING PDZD2 MODERATE|MISSENSE|gaC/gaA|D1343E|2839|PDZD2|protein_coding|CODING|ENST00000438447|exon_5_32087237_32091281 0/1:99:170,0,220 . . . 5 32786389 rs2270915 A G NON_SYNONYMOUS_CODING NPR3 MODERATE|MISSENSE|Aac/Gac|N305D|324|NPR3|protein_coding|CODING|ENST00000415685|exon_5_32786340_32786941 . 0/1:99:255,0,255 0/1:99:223,0,255 0/1:99:253,0,255 5 32786389 rs2270915 A G NON_SYNONYMOUS_CODING NPR3 MODERATE|MISSENSE|Aac/Gac|N306D|325|NPR3|protein_coding|CODING|ENST00000434067|exon_5_32786340_32786932 . 0/1:99:255,0,255 0/1:99:223,0,255 0/1:99:253,0,255 5 32786389 rs2270915 A G NON_SYNONYMOUS_CODING NPR3 MODERATE|MISSENSE|Aac/Gac|N521D|540|NPR3|protein_coding|CODING|ENST00000415167|exon_5_32786340_32786527 . 0/1:99:255,0,255 0/1:99:223,0,255 0/1:99:253,0,255 5 32786389 rs2270915 A G NON_SYNONYMOUS_CODING NPR3 MODERATE|MISSENSE|Aac/Gac|N522D|541|NPR3|protein_coding|CODING|ENST00000265074|exon_5_32786340_32791819 . 0/1:99:255,0,255 0/1:99:223,0,255 0/1:99:253,0,255 5 33576602 rs3813474 A G NON_SYNONYMOUS_CODING ADAMTS12 MODERATE|MISSENSE|Tgg/Cgg|W1092R|1509|ADAMTS12|protein_coding|CODING|ENST00000352040|exon_5_33576159_33577265 0/1:99:255,0,255 . . 0/1:99:229,0,255 5 33576602 rs3813474 A G NON_SYNONYMOUS_CODING ADAMTS12 MODERATE|MISSENSE|Tgg/Cgg|W1177R|1594|ADAMTS12|protein_coding|CODING|ENST00000504830|exon_5_33576159_33577265 0/1:99:255,0,255 . . 0/1:99:229,0,255 5 33947284 rs142680641 C T NON_SYNONYMOUS_CODING SLC45A2 MODERATE|MISSENSE|cGc/cAc|R392H|471|SLC45A2|protein_coding|CODING|ENST00000342059|exon_5_33947268_33947479 . . . 0/1:99:222,0,237 5 33947284 rs142680641 C T NON_SYNONYMOUS_CODING SLC45A2 MODERATE|MISSENSE|cGc/cAc|R451H|460|SLC45A2|protein_coding|CODING|ENST00000382102|exon_5_33945971_33947479 . . . 0/1:99:222,0,237 5 33947284 rs142680641 C T NON_SYNONYMOUS_CODING SLC45A2 MODERATE|MISSENSE|cGc/cAc|R451H|530|SLC45A2|protein_coding|CODING|ENST00000296589|exon_5_33947268_33947479 . . . 0/1:99:222,0,237 5 33963870 rs26722 C T NON_SYNONYMOUS_CODING SLC45A2 MODERATE|MISSENSE|Gag/Aag|E213K|471|SLC45A2|protein_coding|CODING|ENST00000342059|exon_5_33963796_33964121 0/1:99:255,0,255 . . . 5 33963870 rs26722 C T NON_SYNONYMOUS_CODING SLC45A2 MODERATE|MISSENSE|Gag/Aag|E272K|460|SLC45A2|protein_coding|CODING|ENST00000382102|exon_5_33963796_33964121 0/1:99:255,0,255 . . . 5 33963870 rs26722 C T NON_SYNONYMOUS_CODING SLC45A2 MODERATE|MISSENSE|Gag/Aag|E272K|530|SLC45A2|protein_coding|CODING|ENST00000296589|exon_5_33963796_33964121 0/1:99:255,0,255 . . . 5 33963870 rs26722 C T NON_SYNONYMOUS_CODING SLC45A2 MODERATE|MISSENSE|Gag/Aag|E97K|245|SLC45A2|protein_coding|CODING|ENST00000510600|exon_5_33963796_33964121 0/1:99:255,0,255 . . . 5 34757666 rs17521570 G A NON_SYNONYMOUS_CODING RAI14 MODERATE|MISSENSE|Gcc/Acc|A36T|972|RAI14|protein_coding|CODING|ENST00000506376|exon_5_34757573_34757703 . 0/1:99:135,0,255 0/1:99:255,0,255 . 5 34757666 rs17521570 G A NON_SYNONYMOUS_CODING RAI14 MODERATE|MISSENSE|Gcc/Acc|A37T|973|RAI14|protein_coding|CODING|ENST00000397449|exon_5_34757573_34757703 . 0/1:99:135,0,255 0/1:99:255,0,255 . 5 34757666 rs17521570 G A NON_SYNONYMOUS_CODING RAI14 MODERATE|MISSENSE|Gcc/Acc|A44T|103|RAI14|protein_coding|CODING|ENST00000514036|exon_5_34757573_34757703 . 0/1:99:135,0,255 0/1:99:255,0,255 . 5 34757666 rs17521570 G A NON_SYNONYMOUS_CODING RAI14 MODERATE|MISSENSE|Gcc/Acc|A44T|106|RAI14|protein_coding|CODING|ENST00000512305|exon_5_34757573_34757703 . 0/1:99:135,0,255 0/1:99:255,0,255 . 5 34757666 rs17521570 G A NON_SYNONYMOUS_CODING RAI14 MODERATE|MISSENSE|Gcc/Acc|A44T|113|RAI14|protein_coding|CODING|ENST00000504052|exon_5_34757573_34757703 . 0/1:99:135,0,255 0/1:99:255,0,255 . 5 34757666 rs17521570 G A NON_SYNONYMOUS_CODING RAI14 MODERATE|MISSENSE|Gcc/Acc|A44T|124|RAI14|protein_coding|CODING|ENST00000508315|exon_5_34757573_34757703 . 0/1:99:135,0,255 0/1:99:255,0,255 . 5 34757666 rs17521570 G A NON_SYNONYMOUS_CODING RAI14 MODERATE|MISSENSE|Gcc/Acc|A44T|125|RAI14|protein_coding|CODING|ENST00000513974|exon_5_34757573_34757703 . 0/1:99:135,0,255 0/1:99:255,0,255 . 5 34757666 rs17521570 G A NON_SYNONYMOUS_CODING RAI14 MODERATE|MISSENSE|Gcc/Acc|A44T|125|RAI14|protein_coding|CODING|ENST00000514873|exon_5_34757573_34757703 . 0/1:99:135,0,255 0/1:99:255,0,255 . 5 34757666 rs17521570 G A NON_SYNONYMOUS_CODING RAI14 MODERATE|MISSENSE|Gcc/Acc|A44T|138|RAI14|protein_coding|CODING|ENST00000514527|exon_5_34757573_34757703 . 0/1:99:135,0,255 0/1:99:255,0,255 . 5 34757666 rs17521570 G A NON_SYNONYMOUS_CODING RAI14 MODERATE|MISSENSE|Gcc/Acc|A44T|149|RAI14|protein_coding|CODING|ENST00000512625|exon_5_34757573_34757703 . 0/1:99:135,0,255 0/1:99:255,0,255 . 5 34757666 rs17521570 G A NON_SYNONYMOUS_CODING RAI14 MODERATE|MISSENSE|Gcc/Acc|A44T|951|RAI14|protein_coding|CODING|ENST00000512629|exon_5_34757573_34757703 . 0/1:99:135,0,255 0/1:99:255,0,255 . 5 34757666 rs17521570 G A NON_SYNONYMOUS_CODING RAI14 MODERATE|MISSENSE|Gcc/Acc|A44T|980|RAI14|protein_coding|CODING|ENST00000265109|exon_5_34757573_34757703 . 0/1:99:135,0,255 0/1:99:255,0,255 . 5 34757666 rs17521570 G A NON_SYNONYMOUS_CODING RAI14 MODERATE|MISSENSE|Gcc/Acc|A44T|980|RAI14|protein_coding|CODING|ENST00000428746|exon_5_34757573_34757703 . 0/1:99:135,0,255 0/1:99:255,0,255 . 5 34757666 rs17521570 G A NON_SYNONYMOUS_CODING RAI14 MODERATE|MISSENSE|Gcc/Acc|A44T|980|RAI14|protein_coding|CODING|ENST00000503673|exon_5_34757573_34757703 . 0/1:99:135,0,255 0/1:99:255,0,255 . 5 34757666 rs17521570 G A NON_SYNONYMOUS_CODING RAI14 MODERATE|MISSENSE|Gcc/Acc|A47T|983|RAI14|protein_coding|CODING|ENST00000515799|exon_5_34757573_34757703 . 0/1:99:135,0,255 0/1:99:255,0,255 . 5 34911914 rs1805328 G C NON_SYNONYMOUS_CODING RAD1 MODERATE|MISSENSE|aCt/aGt|T104S|282|RAD1|protein_coding|CODING|ENST00000341754|exon_5_34911659_34911917 . . . 0/1:99:190,0,255 5 34911914 rs1805328 G C NON_SYNONYMOUS_CODING RAD1 MODERATE|MISSENSE|aCt/aGt|T104S|282|RAD1|protein_coding|CODING|ENST00000382038|exon_5_34911659_34911917 . . . 0/1:99:190,0,255 5 34911914 rs1805328 G C NON_SYNONYMOUS_CODING RAD1 MODERATE|MISSENSE|aCt/aGt|T68S|246|RAD1|protein_coding|CODING|ENST00000542494|exon_5_34911659_34911918 . . . 0/1:99:190,0,255 5 35072712 rs72478580 T G NON_SYNONYMOUS_CODING PRLR MODERATE|MISSENSE|Att/Ctt|I170L|268|PRLR|protein_coding|CODING|ENST00000348262|exon_5_35072677_35072846 . 0/1:99:255,0,255 . . 5 35072712 rs72478580 T G NON_SYNONYMOUS_CODING PRLR MODERATE|MISSENSE|Att/Ctt|I170L|288|PRLR|protein_coding|CODING|ENST00000513753|exon_5_35072677_35072846 . 0/1:99:255,0,255 . . 5 35072712 rs72478580 T G NON_SYNONYMOUS_CODING PRLR MODERATE|MISSENSE|Att/Ctt|I170L|309|PRLR|protein_coding|CODING|ENST00000542609|exon_5_35072677_35072846 . 0/1:99:255,0,255 . . 5 35072712 rs72478580 T G NON_SYNONYMOUS_CODING PRLR MODERATE|MISSENSE|Att/Ctt|I170L|349|PRLR|protein_coding|CODING|ENST00000310101|exon_5_35072677_35072846 . 0/1:99:255,0,255 . . 5 35072712 rs72478580 T G NON_SYNONYMOUS_CODING PRLR MODERATE|MISSENSE|Att/Ctt|I170L|376|PRLR|protein_coding|CODING|ENST00000231423|exon_5_35072677_35072846 . 0/1:99:255,0,255 . . 5 35072712 rs72478580 T G NON_SYNONYMOUS_CODING PRLR MODERATE|MISSENSE|Att/Ctt|I170L|622|PRLR|protein_coding|CODING|ENST00000382002|exon_5_35072677_35072846 . 0/1:99:255,0,255 . . 5 35072712 rs72478580 T G NON_SYNONYMOUS_CODING PRLR MODERATE|MISSENSE|Att/Ctt|I69L|521|PRLR|protein_coding|CODING|ENST00000342362|exon_5_35072677_35072846 . 0/1:99:255,0,255 . . 5 35072712 rs72478580 T G NON_SYNONYMOUS_CODING PRLR MODERATE|MISSENSE|Att/Ctt|I69L|521|PRLR|protein_coding|CODING|ENST00000511486|exon_5_35072677_35072846 . 0/1:99:255,0,255 . . 5 35072712 rs72478580 T G NON_SYNONYMOUS_CODING PRLR MODERATE|MISSENSE|Att/Ctt|I99L|197|PRLR|protein_coding|CODING|ENST00000397391|exon_5_35072677_35072846 . 0/1:99:255,0,255 . . 5 35084647 rs2228482 T C NON_SYNONYMOUS_CODING PRLR MODERATE|MISSENSE|Atc/Gtc|I100V|101|PRLR|protein_coding|CODING|ENST00000503330|exon_5_35084637_35084741 . . 0/1:99:226,0,255 . 5 35084647 rs2228482 T C NON_SYNONYMOUS_CODING PRLR MODERATE|MISSENSE|Atc/Gtc|I100V|110|PRLR|protein_coding|CODING|ENST00000509839|exon_5_35084611_35084741 . . 0/1:99:226,0,255 . 5 35084647 rs2228482 T C NON_SYNONYMOUS_CODING PRLR MODERATE|MISSENSE|Atc/Gtc|I100V|119|PRLR|protein_coding|CODING|ENST00000514206|exon_5_35084584_35084741 . . 0/1:99:226,0,255 . 5 35084647 rs2228482 T C NON_SYNONYMOUS_CODING PRLR MODERATE|MISSENSE|Atc/Gtc|I100V|268|PRLR|protein_coding|CODING|ENST00000348262|exon_5_35084572_35084741 . . 0/1:99:226,0,255 . 5 35084647 rs2228482 T C NON_SYNONYMOUS_CODING PRLR MODERATE|MISSENSE|Atc/Gtc|I100V|288|PRLR|protein_coding|CODING|ENST00000513753|exon_5_35084572_35084741 . . 0/1:99:226,0,255 . 5 35084647 rs2228482 T C NON_SYNONYMOUS_CODING PRLR MODERATE|MISSENSE|Atc/Gtc|I100V|309|PRLR|protein_coding|CODING|ENST00000542609|exon_5_35084572_35084741 . . 0/1:99:226,0,255 . 5 35084647 rs2228482 T C NON_SYNONYMOUS_CODING PRLR MODERATE|MISSENSE|Atc/Gtc|I100V|349|PRLR|protein_coding|CODING|ENST00000310101|exon_5_35084572_35084741 . . 0/1:99:226,0,255 . 5 35084647 rs2228482 T C NON_SYNONYMOUS_CODING PRLR MODERATE|MISSENSE|Atc/Gtc|I100V|376|PRLR|protein_coding|CODING|ENST00000231423|exon_5_35084572_35084741 . . 0/1:99:226,0,255 . 5 35084647 rs2228482 T C NON_SYNONYMOUS_CODING PRLR MODERATE|MISSENSE|Atc/Gtc|I100V|622|PRLR|protein_coding|CODING|ENST00000382002|exon_5_35084572_35084741 . . 0/1:99:226,0,255 . 5 35084647 rs2228482 T C NON_SYNONYMOUS_CODING PRLR MODERATE|MISSENSE|Atc/Gtc|I29V|197|PRLR|protein_coding|CODING|ENST00000397391|exon_5_35084572_35084741 . . 0/1:99:226,0,255 . 5 35705844 rs72738833 A C NON_SYNONYMOUS_CODING SPEF2 MODERATE|MISSENSE|Aag/Cag|K373Q|387|SPEF2|protein_coding|CODING|ENST00000504054|exon_5_35705753_35705893 . 0/1:99:242,0,255 . . 5 35705844 rs72738833 A C NON_SYNONYMOUS_CODING SPEF2 MODERATE|MISSENSE|Aag/Cag|K862Q|1818|SPEF2|protein_coding|CODING|ENST00000440995|exon_5_35705753_35705910 . 0/1:99:242,0,255 . . 5 35705844 rs72738833 A C NON_SYNONYMOUS_CODING SPEF2 MODERATE|MISSENSE|Aag/Cag|K862Q|943|SPEF2|protein_coding|CODING|ENST00000509059|exon_5_35705753_35705910 . 0/1:99:242,0,255 . . 5 35705844 rs72738833 A C NON_SYNONYMOUS_CODING SPEF2 MODERATE|MISSENSE|Aag/Cag|K867Q|1822|SPEF2|protein_coding|CODING|ENST00000356031|exon_5_35705753_35705910 . 0/1:99:242,0,255 . . 5 37153871 rs77014998 G T NON_SYNONYMOUS_CODING C5orf42 MODERATE|MISSENSE|Cct/Act|P1626T|2095|C5orf42|protein_coding|CODING|ENST00000274258|exon_5_37153842_37154095 . . 0/1:99:255,0,255 . 5 37153871 rs77014998 G T NON_SYNONYMOUS_CODING C5orf42 MODERATE|MISSENSE|Cct/Act|P1662T|1812|C5orf42|protein_coding|CODING|ENST00000388739|exon_5_37153842_37154095 . . 0/1:99:255,0,255 . 5 37153871 rs77014998 G T NON_SYNONYMOUS_CODING C5orf42 MODERATE|MISSENSE|Cct/Act|P1794T|2263|C5orf42|protein_coding|CODING|ENST00000514429|exon_5_37153842_37154095 . . 0/1:99:255,0,255 . 5 37153871 rs77014998 G T NON_SYNONYMOUS_CODING C5orf42 MODERATE|MISSENSE|Cct/Act|P2728T|3197|C5orf42|protein_coding|CODING|ENST00000425232|exon_5_37153842_37154095 . . 0/1:99:255,0,255 . 5 37153871 rs77014998 G T NON_SYNONYMOUS_CODING C5orf42 MODERATE|MISSENSE|Cct/Act|P2728T|3197|C5orf42|protein_coding|CODING|ENST00000508244|exon_5_37153842_37154095 . . 0/1:99:255,0,255 . 5 37226814 rs74975451 C T NON_SYNONYMOUS_CODING C5orf42 MODERATE|MISSENSE|aGa/aAa|R628K|3197|C5orf42|protein_coding|CODING|ENST00000425232|exon_5_37226406_37227175 0/1:99:255,0,255 . . . 5 37226814 rs74975451 C T NON_SYNONYMOUS_CODING C5orf42 MODERATE|MISSENSE|aGa/aAa|R628K|3197|C5orf42|protein_coding|CODING|ENST00000508244|exon_5_37226406_37227175 0/1:99:255,0,255 . . . 5 37303392 rs148111764 C T NON_SYNONYMOUS_CODING NUP155 MODERATE|MISSENSE|cGt/cAt|R1032H|1327|NUP155|protein_coding|CODING|ENST00000513532|exon_5_37303362_37303516 . . . 0/1:99:255,0,199 5 37303392 rs148111764 C T NON_SYNONYMOUS_CODING NUP155 MODERATE|MISSENSE|cGt/cAt|R1037H|1332|NUP155|protein_coding|CODING|ENST00000381843|exon_5_37303362_37303516 . . . 0/1:99:255,0,199 5 37303392 rs148111764 C T NON_SYNONYMOUS_CODING NUP155 MODERATE|MISSENSE|cGt/cAt|R1058H|1353|NUP155|protein_coding|CODING|ENST00000434056|exon_5_37303362_37303516 . . . 0/1:99:255,0,199 5 37303392 rs148111764 C T NON_SYNONYMOUS_CODING NUP155 MODERATE|MISSENSE|cGt/cAt|R1096H|1391|NUP155|protein_coding|CODING|ENST00000231498|exon_5_37303362_37303516 . . . 0/1:99:255,0,199 5 38412674 rs16903965 C T NON_SYNONYMOUS_CODING EGFLAM MODERATE|MISSENSE|aCg/aTg|T239M|775|EGFLAM|protein_coding|CODING|ENST00000336740|exon_5_38412606_38412750 0/1:99:255,0,184 . . . 5 38412674 rs16903965 C T NON_SYNONYMOUS_CODING EGFLAM MODERATE|MISSENSE|aCg/aTg|T239M|775|EGFLAM|protein_coding|CODING|ENST00000339580|exon_5_38412606_38412750 0/1:99:255,0,184 . . . 5 38412674 rs16903965 C T NON_SYNONYMOUS_CODING EGFLAM MODERATE|MISSENSE|aCg/aTg|T473M|1009|EGFLAM|protein_coding|CODING|ENST00000322350|exon_5_38412606_38412750 0/1:99:255,0,184 . . . 5 38412674 rs16903965 C T NON_SYNONYMOUS_CODING EGFLAM MODERATE|MISSENSE|aCg/aTg|T473M|1017|EGFLAM|protein_coding|CODING|ENST00000354891|exon_5_38412606_38412750 0/1:99:255,0,184 . . . 5 38496637 rs3729740 C T NON_SYNONYMOUS_CODING LIFR MODERATE|MISSENSE|Gat/Aat|D578N|1097|LIFR|protein_coding|CODING|ENST00000263409|exon_5_38496484_38496697 0/1:99:255,0,204 . . . 5 38496637 rs3729740 C T NON_SYNONYMOUS_CODING LIFR MODERATE|MISSENSE|Gat/Aat|D578N|1097|LIFR|protein_coding|CODING|ENST00000453190|exon_5_38496484_38496697 0/1:99:255,0,204 . . . 5 38884071 rs34675408 T G NON_SYNONYMOUS_CODING OSMR MODERATE|MISSENSE|caT/caG|H187Q|342|OSMR|protein_coding|CODING|ENST00000502536|exon_5_38883929_38884213 0/1:99:255,0,255 . . . 5 38884071 rs34675408 T G NON_SYNONYMOUS_CODING OSMR MODERATE|MISSENSE|caT/caG|H187Q|979|OSMR|protein_coding|CODING|ENST00000274276|exon_5_38883929_38884213 0/1:99:255,0,255 . . . 5 39126205 rs144818935 G A NON_SYNONYMOUS_CODING FYB MODERATE|MISSENSE|aCg/aTg|T647M|746|FYB|protein_coding|CODING|ENST00000542542|exon_5_39126100_39126237 0/1:99:255,0,194 . . . 5 39126205 rs144818935 G A NON_SYNONYMOUS_CODING FYB MODERATE|MISSENSE|aCg/aTg|T647M|829|FYB|protein_coding|CODING|ENST00000505428|exon_5_39126100_39126237 0/1:99:255,0,194 . . . 5 39126205 rs144818935 G A NON_SYNONYMOUS_CODING FYB MODERATE|MISSENSE|aCg/aTg|T647M|829|FYB|protein_coding|CODING|ENST00000512982|exon_5_39126100_39126237 0/1:99:255,0,194 . . . 5 39126205 rs144818935 G A NON_SYNONYMOUS_CODING FYB MODERATE|MISSENSE|aCg/aTg|T657M|839|FYB|protein_coding|CODING|ENST00000540520|exon_5_39126100_39126237 0/1:99:255,0,194 . . . 5 39153688 . G A NON_SYNONYMOUS_CODING FYB MODERATE|MISSENSE|aCg/aTg|T385M|746|FYB|protein_coding|CODING|ENST00000542542|exon_5_39153550_39153706 . 0/1:99:255,0,197 . . 5 39153688 . G A NON_SYNONYMOUS_CODING FYB MODERATE|MISSENSE|aCg/aTg|T385M|783|FYB|protein_coding|CODING|ENST00000351578|exon_5_39153550_39153706 . 0/1:99:255,0,197 . . 5 39153688 . G A NON_SYNONYMOUS_CODING FYB MODERATE|MISSENSE|aCg/aTg|T385M|783|FYB|protein_coding|CODING|ENST00000515010|exon_5_39153550_39153706 . 0/1:99:255,0,197 . . 5 39153688 . G A NON_SYNONYMOUS_CODING FYB MODERATE|MISSENSE|aCg/aTg|T385M|829|FYB|protein_coding|CODING|ENST00000505428|exon_5_39153550_39153706 . 0/1:99:255,0,197 . . 5 39153688 . G A NON_SYNONYMOUS_CODING FYB MODERATE|MISSENSE|aCg/aTg|T385M|829|FYB|protein_coding|CODING|ENST00000512982|exon_5_39153550_39153706 . 0/1:99:255,0,197 . . 5 39153688 . G A NON_SYNONYMOUS_CODING FYB MODERATE|MISSENSE|aCg/aTg|T395M|839|FYB|protein_coding|CODING|ENST00000540520|exon_5_39153550_39153706 . 0/1:99:255,0,197 . . 5 40841741 rs10512747 C T NON_SYNONYMOUS_CODING CARD6 MODERATE|MISSENSE|tCa/tTa|S86L|1037|CARD6|protein_coding|CODING|ENST00000254691|exon_5_40841286_40841767 . . . 0/1:99:255,0,255 5 40841741 rs10512747 C T NON_SYNONYMOUS_CODING CARD6 MODERATE|MISSENSE|tCa/tTa|S86L|310|CARD6|protein_coding|CODING|ENST00000381677|exon_5_40841410_40841767 . . . 0/1:99:255,0,255 5 40841741 rs10512747 C T NON_SYNONYMOUS_CODING CARD6 MODERATE|MISSENSE|tCa/tTa|S86L|310|CARD6|protein_coding|CODING|ENST00000444789|exon_5_40841410_40841764 . . . 0/1:99:255,0,255 5 40841741 rs10512747 C T NON_SYNONYMOUS_CODING CARD6 MODERATE|MISSENSE|tCa/tTa|S86L|481|CARD6|protein_coding|CODING|ENST00000509771|exon_5_40841478_40841767 . . . 0/1:99:255,0,255 5 40964885 rs60714178 A T NON_SYNONYMOUS_CODING C7 MODERATE|MISSENSE|Act/Tct|T438S|486|C7|protein_coding|CODING|ENST00000440677|exon_5_40964843_40964975 . . 0/1:99:246,0,255 . 5 40964885 rs60714178 A T NON_SYNONYMOUS_CODING C7 MODERATE|MISSENSE|Act/Tct|T598S|843|C7|protein_coding|CODING|ENST00000313164|exon_5_40964843_40964975 . . 0/1:99:246,0,255 . 5 41042204 rs16870720 T A NON_SYNONYMOUS_CODING HEATR7B2 MODERATE|MISSENSE|gAt/gTt|D203V|1140|HEATR7B2|protein_coding|CODING|ENST00000506092|exon_5_41042194_41042310 0/1:99:215,0,255 . . . 5 41042204 rs16870720 T A NON_SYNONYMOUS_CODING HEATR7B2 MODERATE|MISSENSE|gAt/gTt|D353V|1290|HEATR7B2|protein_coding|CODING|ENST00000296803|exon_5_41042194_41042310 0/1:99:215,0,255 . . . 5 41042204 rs16870720 T A NON_SYNONYMOUS_CODING HEATR7B2 MODERATE|MISSENSE|gAt/gTt|D648V|1585|HEATR7B2|protein_coding|CODING|ENST00000399564|exon_5_41042194_41042310 0/1:99:215,0,255 . . . 5 41912223 rs151191974 C T NON_SYNONYMOUS_CODING C5orf51 MODERATE|MISSENSE|cCt/cTt|P180L|294|C5orf51|protein_coding|CODING|ENST00000381647|exon_5_41912171_41912285 . . 0/1:99:255,0,255 . 5 43613046 rs35201656 A G NON_SYNONYMOUS_CODING NNT MODERATE|MISSENSE|aAa/aGa|K63R|1086|NNT|protein_coding|CODING|ENST00000264663|exon_5_43613010_43613239 . 0/1:99:255,0,255 . . 5 43613046 rs35201656 A G NON_SYNONYMOUS_CODING NNT MODERATE|MISSENSE|aAa/aGa|K63R|1086|NNT|protein_coding|CODING|ENST00000344920|exon_5_43613010_43613239 . 0/1:99:255,0,255 . . 5 43613046 rs35201656 A G NON_SYNONYMOUS_CODING NNT MODERATE|MISSENSE|aAa/aGa|K63R|198|NNT|protein_coding|CODING|ENST00000505678|exon_5_43613010_43613239 . 0/1:99:255,0,255 . . 5 43613046 rs35201656 A G NON_SYNONYMOUS_CODING NNT MODERATE|MISSENSE|aAa/aGa|K63R|216|NNT|protein_coding|CODING|ENST00000512422|exon_5_43613010_43613239 . 0/1:99:255,0,255 . . 5 43653243 rs41271083 C T NON_SYNONYMOUS_CODING NNT MODERATE|MISSENSE|Ctc/Ttc|L178F|601|NNT|protein_coding|CODING|ENST00000542759|exon_5_43653120_43653315 . 0/1:99:243,0,252 . . 5 43653243 rs41271083 C T NON_SYNONYMOUS_CODING NNT MODERATE|MISSENSE|Ctc/Ttc|L532F|955|NNT|protein_coding|CODING|ENST00000512996|exon_5_43653120_43653315 . 0/1:99:243,0,252 . . 5 43653243 rs41271083 C T NON_SYNONYMOUS_CODING NNT MODERATE|MISSENSE|Ctc/Ttc|L663F|1086|NNT|protein_coding|CODING|ENST00000264663|exon_5_43653120_43653315 . 0/1:99:243,0,252 . . 5 43653243 rs41271083 C T NON_SYNONYMOUS_CODING NNT MODERATE|MISSENSE|Ctc/Ttc|L663F|1086|NNT|protein_coding|CODING|ENST00000344920|exon_5_43653120_43653315 . 0/1:99:243,0,252 . . 5 44809433 . GGAGCCCGAGCCCGAGCCCGA GGAGCCCGAGCCCGAGCCCGAGCCCGA CODON_CHANGE_PLUS_CODON_INSERTION MRPS30 MODERATE||gaa/gaGCCCGAa|E130EPE|439|MRPS30|protein_coding|CODING|ENST00000507110|exon_5_44809027_44809665 . . . 0/1:99:166,0,255 5 52201722 rs4145748 C T NON_SYNONYMOUS_CODING ITGA1 MODERATE|MISSENSE|aCg/aTg|T480M|1179|ITGA1|protein_coding|CODING|ENST00000282588|exon_5_52201593_52201738 . . . 0/1:99:255,0,255 5 52214581 rs2279587 G A NON_SYNONYMOUS_CODING ITGA1 MODERATE|MISSENSE|Gtt/Att|V670I|1179|ITGA1|protein_coding|CODING|ENST00000282588|exon_5_52214562_52214728 . . . 0/1:99:255,0,198 5 52229745 rs12520591 T G NON_SYNONYMOUS_CODING ITGA1 MODERATE|MISSENSE|atT/atG|I961M|1179|ITGA1|protein_coding|CODING|ENST00000282588|exon_5_52229724_52229826 . . . 0/1:99:255,0,255 5 54252307 rs141292882 G A NON_SYNONYMOUS_CODING RP11-45H22.3.1 MODERATE|MISSENSE|tCg/tTg|S50L|102|RP11-45H22.3.1|protein_coding|CODING|ENST00000505950|exon_5_54252063_54252350 0/1:99:236,0,255 . . . 5 55251931 rs2228043 G C NON_SYNONYMOUS_CODING IL6ST MODERATE|MISSENSE|Cta/Gta|L397V|857|IL6ST|protein_coding|CODING|ENST00000381294|exon_5_55251853_55252063 . 0/1:99:255,0,255 . . 5 55251931 rs2228043 G C NON_SYNONYMOUS_CODING IL6ST MODERATE|MISSENSE|Cta/Gta|L397V|918|IL6ST|protein_coding|CODING|ENST00000336909|exon_5_55251853_55252063 . 0/1:99:255,0,255 . . 5 55251931 rs2228043 G C NON_SYNONYMOUS_CODING IL6ST MODERATE|MISSENSE|Cta/Gta|L397V|918|IL6ST|protein_coding|CODING|ENST00000381298|exon_5_55251853_55252063 . 0/1:99:255,0,255 . . 5 55264153 rs2228044 C G NON_SYNONYMOUS_CODING IL6ST MODERATE|MISSENSE|Ggt/Cgt|G148R|328|IL6ST|protein_coding|CODING|ENST00000542298|exon_5_55264104_55264224 . 0/1:99:255,0,255 . . 5 55264153 rs2228044 C G NON_SYNONYMOUS_CODING IL6ST MODERATE|MISSENSE|Ggt/Cgt|G148R|329|IL6ST|protein_coding|CODING|ENST00000381287|exon_5_55264104_55264224 . 0/1:99:255,0,255 . . 5 55264153 rs2228044 C G NON_SYNONYMOUS_CODING IL6ST MODERATE|MISSENSE|Ggt/Cgt|G148R|329|IL6ST|protein_coding|CODING|ENST00000522633|exon_5_55264104_55264224 . 0/1:99:255,0,255 . . 5 55264153 rs2228044 C G NON_SYNONYMOUS_CODING IL6ST MODERATE|MISSENSE|Ggt/Cgt|G148R|329|IL6ST|protein_coding|CODING|ENST00000536319|exon_5_55264104_55264224 . 0/1:99:255,0,255 . . 5 55264153 rs2228044 C G NON_SYNONYMOUS_CODING IL6ST MODERATE|MISSENSE|Ggt/Cgt|G148R|857|IL6ST|protein_coding|CODING|ENST00000381294|exon_5_55264104_55264224 . 0/1:99:255,0,255 . . 5 55264153 rs2228044 C G NON_SYNONYMOUS_CODING IL6ST MODERATE|MISSENSE|Ggt/Cgt|G148R|918|IL6ST|protein_coding|CODING|ENST00000336909|exon_5_55264104_55264224 . 0/1:99:255,0,255 . . 5 55264153 rs2228044 C G NON_SYNONYMOUS_CODING IL6ST MODERATE|MISSENSE|Ggt/Cgt|G148R|918|IL6ST|protein_coding|CODING|ENST00000381298|exon_5_55264104_55264224 . 0/1:99:255,0,255 . . 5 56209735 rs40497 A G NON_SYNONYMOUS_CODING C5orf35 MODERATE|MISSENSE|Aaa/Gaa|K209E|271|C5orf35|protein_coding|CODING|ENST00000541720|exon_5_56209701_56209816 0/1:99:250,0,255 . . 0/1:99:255,0,249 5 56209735 rs40497 A G NON_SYNONYMOUS_CODING C5orf35 MODERATE|MISSENSE|Aaa/Gaa|K209E|299|C5orf35|protein_coding|CODING|ENST00000285947|exon_5_56209701_56209816 0/1:99:250,0,255 . . 0/1:99:255,0,249 5 57841921 rs114483705 C A NON_SYNONYMOUS_CODING CTD-2117L12.1.1 MODERATE|MISSENSE|caG/caT|Q109H|120|CTD-2117L12.1.1|protein_coding|CODING|ENST00000504333|exon_5_57841919_57841986 . . . 0/1:99:248,0,255 5 57842987 rs183283474 T C NON_SYNONYMOUS_CODING CTD-2117L12.1.1 MODERATE|MISSENSE|cAg/cGg|Q79R|120|CTD-2117L12.1.1|protein_coding|CODING|ENST00000504333|exon_5_57842962_57843198 . . 0/1:99:252,0,237 . 5 57854018 rs13181639 A T NON_SYNONYMOUS_CODING CTD-2117L12.1.1 MODERATE|MISSENSE|Tct/Act|S7T|120|CTD-2117L12.1.1|protein_coding|CODING|ENST00000504333|exon_5_57854013_57854070 . 0/1:99:255,0,226 . 0/1:99:225,0,141 5 60194107 rs61754098 G T NON_SYNONYMOUS_CODING ERCC8 MODERATE|MISSENSE|aCa/aAa|T127K|243|ERCC8|protein_coding|CODING|ENST00000543101|exon_5_60194103_60194227 . . . 0/1:99:255,0,255 5 60194107 rs61754098 G T NON_SYNONYMOUS_CODING ERCC8 MODERATE|MISSENSE|aCa/aAa|T222K|338|ERCC8|protein_coding|CODING|ENST00000426742|exon_5_60194103_60194227 . . . 0/1:99:255,0,255 5 60194107 rs61754098 G T NON_SYNONYMOUS_CODING ERCC8 MODERATE|MISSENSE|aCa/aAa|T279K|395|ERCC8|protein_coding|CODING|ENST00000536596|exon_5_60194103_60194227 . . . 0/1:99:255,0,255 5 60194107 rs61754098 G T NON_SYNONYMOUS_CODING ERCC8 MODERATE|MISSENSE|aCa/aAa|T280K|396|ERCC8|protein_coding|CODING|ENST00000265038|exon_5_60194103_60194227 . . . 0/1:99:255,0,255 5 66441069 rs55969676 G A NON_SYNONYMOUS_CODING MAST4 MODERATE|MISSENSE|Gag/Aag|E792K|2429|MAST4|protein_coding|CODING|ENST00000261569|exon_5_66440972_66441207 . 0/1:99:255,0,238 . . 5 66441069 rs55969676 G A NON_SYNONYMOUS_CODING MAST4 MODERATE|MISSENSE|Gag/Aag|E792K|992|MAST4|protein_coding|CODING|ENST00000432399|exon_5_66440972_66441207 . 0/1:99:255,0,238 . . 5 66441069 rs55969676 G A NON_SYNONYMOUS_CODING MAST4 MODERATE|MISSENSE|Gag/Aag|E797K|2434|MAST4|protein_coding|CODING|ENST00000403666|exon_5_66440972_66441207 . 0/1:99:255,0,238 . . 5 66441069 rs55969676 G A NON_SYNONYMOUS_CODING MAST4 MODERATE|MISSENSE|Gag/Aag|E807K|2444|MAST4|protein_coding|CODING|ENST00000380908|exon_5_66440972_66441207 . 0/1:99:255,0,238 . . 5 66441069 rs55969676 G A NON_SYNONYMOUS_CODING MAST4 MODERATE|MISSENSE|Gag/Aag|E807K|2444|MAST4|protein_coding|CODING|ENST00000405643|exon_5_66440972_66441207 . 0/1:99:255,0,238 . . 5 66441069 rs55969676 G A NON_SYNONYMOUS_CODING MAST4 MODERATE|MISSENSE|Gag/Aag|E986K|2623|MAST4|protein_coding|CODING|ENST00000403625|exon_5_66440972_66441207 . 0/1:99:255,0,238 . . 5 66441069 rs55969676 G A NON_SYNONYMOUS_CODING MAST4 MODERATE|MISSENSE|Gag/Aag|E989K|2626|MAST4|protein_coding|CODING|ENST00000404260|exon_5_66440972_66441207 . 0/1:99:255,0,238 . . 5 66462094 . G A NON_SYNONYMOUS_CODING MAST4 MODERATE|MISSENSE|Gcc/Acc|A2169T|2429|MAST4|protein_coding|CODING|ENST00000261569|exon_5_66458975_66462879 0/1:99:236,0,159 . . . 5 66462094 . G A NON_SYNONYMOUS_CODING MAST4 MODERATE|MISSENSE|Gcc/Acc|A2174T|2434|MAST4|protein_coding|CODING|ENST00000403666|exon_5_66458975_66463092 0/1:99:236,0,159 . . . 5 66462094 . G A NON_SYNONYMOUS_CODING MAST4 MODERATE|MISSENSE|Gcc/Acc|A2184T|2444|MAST4|protein_coding|CODING|ENST00000380908|exon_5_66458975_66465423 0/1:99:236,0,159 . . . 5 66462094 . G A NON_SYNONYMOUS_CODING MAST4 MODERATE|MISSENSE|Gcc/Acc|A2184T|2444|MAST4|protein_coding|CODING|ENST00000405643|exon_5_66458975_66462879 0/1:99:236,0,159 . . . 5 66462094 . G A NON_SYNONYMOUS_CODING MAST4 MODERATE|MISSENSE|Gcc/Acc|A2363T|2623|MAST4|protein_coding|CODING|ENST00000403625|exon_5_66458975_66465423 0/1:99:236,0,159 . . . 5 66462094 . G A NON_SYNONYMOUS_CODING MAST4 MODERATE|MISSENSE|Gcc/Acc|A2366T|2626|MAST4|protein_coding|CODING|ENST00000404260|exon_5_66458975_66465423 0/1:99:236,0,159 . . . 5 67494070 rs12658274 A T NON_SYNONYMOUS_CODING RP11-404L6.2.1 MODERATE|MISSENSE|Aca/Tca|T21S|53|RP11-404L6.2.1|protein_coding|CODING|ENST00000520762|exon_5_67494018_67494235 0/1:99:147,0,255 . . . 5 70798541 rs36009281 A G NON_SYNONYMOUS_CODING BDP1 MODERATE|MISSENSE|Aaa/Gaa|K302E|2131|BDP1|protein_coding|CODING|ENST00000451951|exon_5_70798426_70798618 0/1:99:244,0,255 . . . 5 70798541 rs36009281 A G NON_SYNONYMOUS_CODING BDP1 MODERATE|MISSENSE|Aaa/Gaa|K722E|2624|BDP1|protein_coding|CODING|ENST00000358731|exon_5_70798426_70798618 0/1:99:244,0,255 . . . 5 70798541 rs36009281 A G NON_SYNONYMOUS_CODING BDP1 MODERATE|MISSENSE|Aaa/Gaa|K722E|812|BDP1|protein_coding|CODING|ENST00000437938|exon_5_70798426_70798618 0/1:99:244,0,255 . . . 5 70798541 rs36009281 A G NON_SYNONYMOUS_CODING BDP1 MODERATE|MISSENSE|Aaa/Gaa|K722E|846|BDP1|protein_coding|CODING|ENST00000444711|exon_5_70798426_70798618 0/1:99:244,0,255 . . . 5 70900270 rs140806722 T A NON_SYNONYMOUS_CODING MCCC2 MODERATE|MISSENSE|aTt/aAt|I200N|363|MCCC2|protein_coding|CODING|ENST00000509358|exon_5_70900183_70900295 . 0/1:99:226,0,255 . . 5 70900270 rs140806722 T A NON_SYNONYMOUS_CODING MCCC2 MODERATE|MISSENSE|aTt/aAt|I200N|525|MCCC2|protein_coding|CODING|ENST00000323375|exon_5_70900183_70900295 . 0/1:99:226,0,255 . . 5 70900270 rs140806722 T A NON_SYNONYMOUS_CODING MCCC2 MODERATE|MISSENSE|aTt/aAt|I200N|563|MCCC2|protein_coding|CODING|ENST00000340941|exon_5_70900183_70900295 . 0/1:99:226,0,255 . . 5 71494208 rs149740474 G A NON_SYNONYMOUS_CODING MAP1B MODERATE|MISSENSE|Gtg/Atg|V1676M|2468|MAP1B|protein_coding|CODING|ENST00000296755|exon_5_71489693_71496194 . . 0/1:99:255,0,212 . 5 71521964 rs114360965 G A NON_SYNONYMOUS_CODING MRPS27 MODERATE|MISSENSE|Cca/Tca|P197S|298|MRPS27|protein_coding|CODING|ENST00000508863|exon_5_71521884_71522026 . . . 0/1:99:234,0,220 5 71521964 rs114360965 G A NON_SYNONYMOUS_CODING MRPS27 MODERATE|MISSENSE|Cca/Tca|P197S|358|MRPS27|protein_coding|CODING|ENST00000457646|exon_5_71521884_71522026 . . . 0/1:99:234,0,220 5 71521964 rs114360965 G A NON_SYNONYMOUS_CODING MRPS27 MODERATE|MISSENSE|Cca/Tca|P253S|414|MRPS27|protein_coding|CODING|ENST00000261413|exon_5_71521884_71522026 . . . 0/1:99:234,0,220 5 71521964 rs114360965 G A NON_SYNONYMOUS_CODING MRPS27 MODERATE|MISSENSE|Cca/Tca|P267S|428|MRPS27|protein_coding|CODING|ENST00000513900|exon_5_71521884_71522026 . . . 0/1:99:234,0,220 5 72348272 rs185435 A G NON_SYNONYMOUS_CODING FCHO2 MODERATE|MISSENSE|Atg/Gtg|M338V|777|FCHO2|protein_coding|CODING|ENST00000512348|exon_5_72348159_72348334 . . 0/1:99:255,0,255 . 5 72348272 rs185435 A G NON_SYNONYMOUS_CODING FCHO2 MODERATE|MISSENSE|Atg/Gtg|M371V|810|FCHO2|protein_coding|CODING|ENST00000341845|exon_5_72348161_72348348 . . 0/1:99:255,0,255 . 5 72348272 rs185435 A G NON_SYNONYMOUS_CODING FCHO2 MODERATE|MISSENSE|Atg/Gtg|M371V|810|FCHO2|protein_coding|CODING|ENST00000430046|exon_5_72348159_72348334 . . 0/1:99:255,0,255 . 5 72419267 rs638333 T C NON_SYNONYMOUS_CODING TMEM171 MODERATE|MISSENSE|Ttc/Ctc|F23L|323|TMEM171|protein_coding|CODING|ENST00000287773|exon_5_72419133_72419840 0/1:99:255,0,255 1/1:99:255,96,0 . . 5 72419267 rs638333 T C NON_SYNONYMOUS_CODING TMEM171 MODERATE|MISSENSE|Ttc/Ctc|F23L|324|TMEM171|protein_coding|CODING|ENST00000454765|exon_5_72419133_72419840 0/1:99:255,0,255 1/1:99:255,96,0 . . 5 72419456 rs637450 C G NON_SYNONYMOUS_CODING TMEM171 MODERATE|MISSENSE|Cgt/Ggt|R86G|323|TMEM171|protein_coding|CODING|ENST00000287773|exon_5_72419133_72419840 . . 0/1:99:255,0,255 0/1:99:117,0,244 5 72419456 rs637450 C G NON_SYNONYMOUS_CODING TMEM171 MODERATE|MISSENSE|Cgt/Ggt|R86G|324|TMEM171|protein_coding|CODING|ENST00000454765|exon_5_72419133_72419840 . . 0/1:99:255,0,255 0/1:99:117,0,244 5 72419617 rs636926 C A NON_SYNONYMOUS_CODING TMEM171 MODERATE|MISSENSE|aaC/aaA|N139K|323|TMEM171|protein_coding|CODING|ENST00000287773|exon_5_72419133_72419840 . . 0/1:99:255,0,129 0/1:99:168,0,212 5 72419617 rs636926 C A NON_SYNONYMOUS_CODING TMEM171 MODERATE|MISSENSE|aaC/aaA|N139K|324|TMEM171|protein_coding|CODING|ENST00000454765|exon_5_72419133_72419840 . . 0/1:99:255,0,129 0/1:99:168,0,212 5 73142296 rs2973571 C T NON_SYNONYMOUS_CODING RP11-428C6.1.1 MODERATE|MISSENSE|tCg/tTg|S231L|1392|RP11-428C6.1.1|protein_coding|CODING|ENST00000296799|exon_5_73142093_73142300 0/1:99:220,0,255 0/1:99:191,0,255 . 1/1:99:255,102,0 5 73142296 rs2973571 C T NON_SYNONYMOUS_CODING RP11-428C6.1.1 MODERATE|MISSENSE|tCg/tTg|S544L|1651|RP11-428C6.1.1|protein_coding|CODING|ENST00000296794|exon_5_73142093_73142300 0/1:99:220,0,255 0/1:99:191,0,255 . 1/1:99:255,102,0 5 73142296 rs2973571 C T NON_SYNONYMOUS_CODING RP11-428C6.1.1 MODERATE|MISSENSE|tCg/tTg|S544L|1687|RP11-428C6.1.1|protein_coding|CODING|ENST00000287898|exon_5_73142093_73142300 0/1:99:220,0,255 0/1:99:191,0,255 . 1/1:99:255,102,0 5 73142296 rs2973571 C T NON_SYNONYMOUS_CODING RP11-428C6.1.1 MODERATE|MISSENSE|tCg/tTg|S544L|1705|RP11-428C6.1.1|protein_coding|CODING|ENST00000426542|exon_5_73142093_73142300 0/1:99:220,0,255 0/1:99:191,0,255 . 1/1:99:255,102,0 5 73142296 rs2973571 C T NON_SYNONYMOUS_CODING RP11-428C6.1.1 MODERATE|MISSENSE|tCg/tTg|S544L|1705|RP11-428C6.1.1|protein_coding|CODING|ENST00000513042|exon_5_73142093_73142300 0/1:99:220,0,255 0/1:99:191,0,255 . 1/1:99:255,102,0 5 73142296 rs2973571 C T NON_SYNONYMOUS_CODING RP11-428C6.1.1 MODERATE|MISSENSE|tCg/tTg|S544L|1731|RP11-428C6.1.1|protein_coding|CODING|ENST00000437974|exon_5_73142093_73142300 0/1:99:220,0,255 0/1:99:191,0,255 . 1/1:99:255,102,0 5 73142296 rs2973571 C T NON_SYNONYMOUS_CODING RP11-428C6.1.1 MODERATE|MISSENSE|tCg/tTg|S544L|1731|RP11-428C6.1.1|protein_coding|CODING|ENST00000545377|exon_5_73142093_73142300 0/1:99:220,0,255 0/1:99:191,0,255 . 1/1:99:255,102,0 5 73148481 rs2973566 G A NON_SYNONYMOUS_CODING RP11-428C6.1.1 MODERATE|MISSENSE|aGa/aAa|R272K|1392|RP11-428C6.1.1|protein_coding|CODING|ENST00000296799|exon_5_73148475_73148517 0/1:99:255,0,198 0/1:99:255,0,230 . 1/1:99:255,108,0 5 73148481 rs2973566 G A NON_SYNONYMOUS_CODING RP11-428C6.1.1 MODERATE|MISSENSE|aGa/aAa|R585K|1651|RP11-428C6.1.1|protein_coding|CODING|ENST00000296794|exon_5_73148475_73148517 0/1:99:255,0,198 0/1:99:255,0,230 . 1/1:99:255,108,0 5 73148481 rs2973566 G A NON_SYNONYMOUS_CODING RP11-428C6.1.1 MODERATE|MISSENSE|aGa/aAa|R585K|1687|RP11-428C6.1.1|protein_coding|CODING|ENST00000287898|exon_5_73148475_73148517 0/1:99:255,0,198 0/1:99:255,0,230 . 1/1:99:255,108,0 5 73148481 rs2973566 G A NON_SYNONYMOUS_CODING RP11-428C6.1.1 MODERATE|MISSENSE|aGa/aAa|R585K|1705|RP11-428C6.1.1|protein_coding|CODING|ENST00000426542|exon_5_73148475_73148517 0/1:99:255,0,198 0/1:99:255,0,230 . 1/1:99:255,108,0 5 73148481 rs2973566 G A NON_SYNONYMOUS_CODING RP11-428C6.1.1 MODERATE|MISSENSE|aGa/aAa|R585K|1705|RP11-428C6.1.1|protein_coding|CODING|ENST00000513042|exon_5_73148475_73148517 0/1:99:255,0,198 0/1:99:255,0,230 . 1/1:99:255,108,0 5 73148481 rs2973566 G A NON_SYNONYMOUS_CODING RP11-428C6.1.1 MODERATE|MISSENSE|aGa/aAa|R585K|1731|RP11-428C6.1.1|protein_coding|CODING|ENST00000437974|exon_5_73148475_73148517 0/1:99:255,0,198 0/1:99:255,0,230 . 1/1:99:255,108,0 5 73148481 rs2973566 G A NON_SYNONYMOUS_CODING RP11-428C6.1.1 MODERATE|MISSENSE|aGa/aAa|R585K|1731|RP11-428C6.1.1|protein_coding|CODING|ENST00000545377|exon_5_73148475_73148517 0/1:99:255,0,198 0/1:99:255,0,230 . 1/1:99:255,108,0 5 74059525 rs79992455 T C NON_SYNONYMOUS_CODING GFM2 MODERATE|MISSENSE|Ata/Gta|I15V|284|GFM2|protein_coding|CODING|ENST00000509097|exon_5_74059505_74059591 . . 0/1:99:255,0,255 0/1:99:255,0,255 5 74059525 rs79992455 T C NON_SYNONYMOUS_CODING GFM2 MODERATE|MISSENSE|Ata/Gta|I15V|513|GFM2|protein_coding|CODING|ENST00000427854|exon_5_74059505_74059591 . . 0/1:99:255,0,255 0/1:99:255,0,255 5 74059525 rs79992455 T C NON_SYNONYMOUS_CODING GFM2 MODERATE|MISSENSE|Ata/Gta|I15V|601|GFM2|protein_coding|CODING|ENST00000546082|exon_5_74059505_74059591 . . 0/1:99:255,0,255 0/1:99:255,0,255 5 74059525 rs79992455 T C NON_SYNONYMOUS_CODING GFM2 MODERATE|MISSENSE|Ata/Gta|I15V|732|GFM2|protein_coding|CODING|ENST00000345239|exon_5_74059505_74059591 . . 0/1:99:255,0,255 0/1:99:255,0,255 5 74059525 rs79992455 T C NON_SYNONYMOUS_CODING GFM2 MODERATE|MISSENSE|Ata/Gta|I15V|779|GFM2|protein_coding|CODING|ENST00000296805|exon_5_74059505_74059591 . . 0/1:99:255,0,255 0/1:99:255,0,255 5 74059525 rs79992455 T C NON_SYNONYMOUS_CODING GFM2 MODERATE|MISSENSE|Ata/Gta|I15V|779|GFM2|protein_coding|CODING|ENST00000509430|exon_5_74059505_74059591 . . 0/1:99:255,0,255 0/1:99:255,0,255 5 74442259 rs184150131 T C NON_SYNONYMOUS_CODING ANKRD31 MODERATE|MISSENSE|Ata/Gta|I993V|1873|ANKRD31|protein_coding|CODING|ENST00000274361|exon_5_74441812_74443330 . . 0/1:99:255,0,255 . 5 74886293 . GTTTTT GTT CODON_DELETION POLK MODERATE||ttt/-|F463-|472|POLK|protein_coding|CODING|ENST00000515295|exon_5_74886169_74886334 0/1:99:255,0,255 . . . 5 76607841 rs115599001 G A NON_SYNONYMOUS_CODING PDE8B MODERATE|MISSENSE|cGc/cAc|R121H|788|PDE8B|protein_coding|CODING|ENST00000346042|exon_5_76607819_76607878 . . 0/1:99:255,0,255 . 5 76607841 rs115599001 G A NON_SYNONYMOUS_CODING PDE8B MODERATE|MISSENSE|cGc/cAc|R121H|830|PDE8B|protein_coding|CODING|ENST00000333194|exon_5_76607819_76607878 . . 0/1:99:255,0,255 . 5 76607841 rs115599001 G A NON_SYNONYMOUS_CODING PDE8B MODERATE|MISSENSE|cGc/cAc|R121H|838|PDE8B|protein_coding|CODING|ENST00000340978|exon_5_76607819_76607878 . . 0/1:99:255,0,255 . 5 76607841 rs115599001 G A NON_SYNONYMOUS_CODING PDE8B MODERATE|MISSENSE|cGc/cAc|R121H|885|PDE8B|protein_coding|CODING|ENST00000264917|exon_5_76607819_76607878 . . 0/1:99:255,0,255 . 5 76736742 rs17751013 G A NON_SYNONYMOUS_CODING WDR41 MODERATE|MISSENSE|Cgc/Tgc|R195C|394|WDR41|protein_coding|CODING|ENST00000515253|exon_5_76736638_76736822 0/1:99:255,0,204 . . . 5 76736742 rs17751013 G A NON_SYNONYMOUS_CODING WDR41 MODERATE|MISSENSE|Cgc/Tgc|R205C|404|WDR41|protein_coding|CODING|ENST00000507029|exon_5_76736638_76736822 0/1:99:255,0,204 . . . 5 76736742 rs17751013 G A NON_SYNONYMOUS_CODING WDR41 MODERATE|MISSENSE|Cgc/Tgc|R260C|459|WDR41|protein_coding|CODING|ENST00000296679|exon_5_76736638_76736822 0/1:99:255,0,204 . . . 5 76736742 rs17751013 G A NON_SYNONYMOUS_CODING WDR41 MODERATE|MISSENSE|Cgc/Tgc|R31C|139|WDR41|protein_coding|CODING|ENST00000507654|exon_5_76736638_76736822 0/1:99:255,0,204 . . . 5 76736742 rs17751013 G A NON_SYNONYMOUS_CODING WDR41 MODERATE|MISSENSE|Cgc/Tgc|R52C|119|WDR41|protein_coding|CODING|ENST00000511791|exon_5_76736638_76736822 0/1:99:255,0,204 . . . 5 76736742 rs17751013 G A NON_SYNONYMOUS_CODING WDR41 MODERATE|MISSENSE|Cgc/Tgc|R6C|205|WDR41|protein_coding|CODING|ENST00000414719|exon_5_76736638_76736822 0/1:99:255,0,204 . . . 5 78135241 rs25414 C T NON_SYNONYMOUS_CODING ARSB MODERATE|MISSENSE|aGc/aAc|S384N|413|ARSB|protein_coding|CODING|ENST00000396151|exon_5_78135179_78135249 . . . 0/1:99:255,0,237 5 78135241 rs25414 C T NON_SYNONYMOUS_CODING ARSB MODERATE|MISSENSE|aGc/aAc|S384N|413|ARSB|protein_coding|CODING|ENST00000565165|exon_5_78135179_78135249 . . . 0/1:99:255,0,237 5 78135241 rs25414 C T NON_SYNONYMOUS_CODING ARSB MODERATE|MISSENSE|aGc/aAc|S384N|533|ARSB|protein_coding|CODING|ENST00000264914|exon_5_78135179_78135249 . . . 0/1:99:255,0,237 5 78340223 rs145258663 G A NON_SYNONYMOUS_CODING DMGDH MODERATE|MISSENSE|Ctc/Ttc|L139F|613|DMGDH|protein_coding|CODING|ENST00000523732|exon_5_78340127_78340375 0/1:99:255,0,255 . . . 5 78340223 rs145258663 G A NON_SYNONYMOUS_CODING DMGDH MODERATE|MISSENSE|Ctc/Ttc|L150F|624|DMGDH|protein_coding|CODING|ENST00000539598|exon_5_78340127_78340375 0/1:99:255,0,255 . . . 5 78340223 rs145258663 G A NON_SYNONYMOUS_CODING DMGDH MODERATE|MISSENSE|Ctc/Ttc|L300F|866|DMGDH|protein_coding|CODING|ENST00000255189|exon_5_78340127_78340375 0/1:99:255,0,255 . . . 5 78340223 rs145258663 G A NON_SYNONYMOUS_CODING DMGDH MODERATE|MISSENSE|Ctc/Ttc|L99F|573|DMGDH|protein_coding|CODING|ENST00000380311|exon_5_78340127_78340375 0/1:99:255,0,255 . . . 5 79026956 rs190069099 C T NON_SYNONYMOUS_CODING CMYA5 MODERATE|MISSENSE|Cgt/Tgt|R790C|4069|CMYA5|protein_coding|CODING|ENST00000446378|exon_5_79024738_79035226 0/1:99:207,0,255 . . . 5 79028726 rs13158477 A G NON_SYNONYMOUS_CODING CMYA5 MODERATE|MISSENSE|Atc/Gtc|I1380V|4069|CMYA5|protein_coding|CODING|ENST00000446378|exon_5_79024738_79035226 . . 0/1:99:255,0,255 0/1:99:255,0,228 5 79029594 rs1019762 T C NON_SYNONYMOUS_CODING CMYA5 MODERATE|MISSENSE|tTa/tCa|L1669S|4069|CMYA5|protein_coding|CODING|ENST00000446378|exon_5_79024738_79035226 . . 0/1:99:252,0,235 0/1:99:255,0,238 5 79286419 rs61998228 C T NON_SYNONYMOUS_CODING MTX3 MODERATE|MISSENSE|aGa/aAa|R50K|158|MTX3|protein_coding|CODING|ENST00000328496|exon_5_79286417_79286486 0/1:99:255,0,255 . . . 5 79286419 rs61998228 C T NON_SYNONYMOUS_CODING MTX3 MODERATE|MISSENSE|aGa/aAa|R50K|248|MTX3|protein_coding|CODING|ENST00000418095|exon_5_79286417_79286486 0/1:99:255,0,255 . . . 5 79286419 rs61998228 C T NON_SYNONYMOUS_CODING MTX3 MODERATE|MISSENSE|aGa/aAa|R50K|248|MTX3|protein_coding|CODING|ENST00000509852|exon_5_79286417_79286486 0/1:99:255,0,255 . . . 5 79286419 rs61998228 C T NON_SYNONYMOUS_CODING MTX3 MODERATE|MISSENSE|aGa/aAa|R50K|312|MTX3|protein_coding|CODING|ENST00000512528|exon_5_79286417_79286486 0/1:99:255,0,255 . . . 5 79368176 . G A NON_SYNONYMOUS_CODING THBS4 MODERATE|MISSENSE|gGg/gAg|G508E|870|THBS4|protein_coding|CODING|ENST00000511733|exon_5_79368101_79368219 0/1:99:223,0,255 . . . 5 79368176 . G A NON_SYNONYMOUS_CODING THBS4 MODERATE|MISSENSE|gGg/gAg|G599E|961|THBS4|protein_coding|CODING|ENST00000350881|exon_5_79368101_79368219 0/1:99:223,0,255 . . . 5 80600619 rs16878594 C G NON_SYNONYMOUS_CODING ZCCHC9 MODERATE|MISSENSE|Ccc/Gcc|P15A|271|ZCCHC9|protein_coding|CODING|ENST00000254037|exon_5_80597422_80600960 0/1:99:255,0,255 . . . 5 80600619 rs16878594 C G NON_SYNONYMOUS_CODING ZCCHC9 MODERATE|MISSENSE|Ccc/Gcc|P15A|271|ZCCHC9|protein_coding|CODING|ENST00000380199|exon_5_80600560_80600960 0/1:99:255,0,255 . . . 5 80600619 rs16878594 C G NON_SYNONYMOUS_CODING ZCCHC9 MODERATE|MISSENSE|Ccc/Gcc|P15A|271|ZCCHC9|protein_coding|CODING|ENST00000407610|exon_5_80600560_80600960 0/1:99:255,0,255 . . . 5 80600619 rs16878594 C G NON_SYNONYMOUS_CODING ZCCHC9 MODERATE|MISSENSE|Ccc/Gcc|P15A|271|ZCCHC9|protein_coding|CODING|ENST00000438268|exon_5_80600560_80600960 0/1:99:255,0,255 . . . 5 81608563 rs61740965 T C NON_SYNONYMOUS_CODING ATP6AP1L MODERATE|MISSENSE|Tac/Cac|Y89H|224|ATP6AP1L|protein_coding|CODING|ENST00000380167|exon_5_81608430_81608670 . . 0/1:99:246,0,228 . 5 81608563 rs61740965 T C NON_SYNONYMOUS_CODING ATP6AP1L MODERATE|MISSENSE|Tac/Cac|Y89H|224|ATP6AP1L|protein_coding|CODING|ENST00000439350|exon_5_81608430_81608670 . . 0/1:99:246,0,228 . 5 82491626 . A T NON_SYNONYMOUS_CODING XRCC4 MODERATE|MISSENSE|aAc/aTc|N118I|334|XRCC4|protein_coding|CODING|ENST00000282268|exon_5_82491589_82491755 . 0/1:99:255,0,255 . . 5 82491626 . A T NON_SYNONYMOUS_CODING XRCC4 MODERATE|MISSENSE|aAc/aTc|N118I|334|XRCC4|protein_coding|CODING|ENST00000396027|exon_5_82491589_82491755 . 0/1:99:255,0,255 . . 5 82491626 . A T NON_SYNONYMOUS_CODING XRCC4 MODERATE|MISSENSE|aAc/aTc|N118I|336|XRCC4|protein_coding|CODING|ENST00000338635|exon_5_82491589_82491755 . 0/1:99:255,0,255 . . 5 82491626 . A T NON_SYNONYMOUS_CODING XRCC4 MODERATE|MISSENSE|aAc/aTc|N118I|336|XRCC4|protein_coding|CODING|ENST00000511817|exon_5_82491589_82491755 . 0/1:99:255,0,255 . . 5 82843864 rs183984308 C G NON_SYNONYMOUS_CODING VCAN MODERATE|MISSENSE|Ctc/Gtc|L1350V|1594|VCAN|protein_coding|CODING|ENST00000512590|exon_5_82843790_82843903 0/1:99:255,0,255 . . . 5 82843864 rs183984308 C G NON_SYNONYMOUS_CODING VCAN MODERATE|MISSENSE|Ctc/Gtc|L1398V|1642|VCAN|protein_coding|CODING|ENST00000342785|exon_5_82843790_82843903 0/1:99:255,0,255 . . . 5 82843864 rs183984308 C G NON_SYNONYMOUS_CODING VCAN MODERATE|MISSENSE|Ctc/Gtc|L2165V|2409|VCAN|protein_coding|CODING|ENST00000343200|exon_5_82843790_82843903 0/1:99:255,0,255 . . . 5 82843864 rs183984308 C G NON_SYNONYMOUS_CODING VCAN MODERATE|MISSENSE|Ctc/Gtc|L3152V|3396|VCAN|protein_coding|CODING|ENST00000265077|exon_5_82843790_82843903 0/1:99:255,0,255 . . . 5 82843864 rs183984308 C G NON_SYNONYMOUS_CODING VCAN MODERATE|MISSENSE|Ctc/Gtc|L411V|655|VCAN|protein_coding|CODING|ENST00000502527|exon_5_82843790_82843903 0/1:99:255,0,255 . . . 5 86514009 rs113288740 C T NON_SYNONYMOUS_CODING AC008394.1 MODERATE|MISSENSE|aGc/aAc|S71N|154|AC008394.1|protein_coding|CODING|ENST00000445770|exon_5_86512423_86514167 0/1:79:76,0,226 . . . 5 87493525 rs75451667 C T NON_SYNONYMOUS_CODING TMEM161B MODERATE|MISSENSE|Gta/Ata|V174I|278|TMEM161B|protein_coding|CODING|ENST00000511218|exon_5_87493486_87493582 0/1:99:231,0,255 . . . 5 87493525 rs75451667 C T NON_SYNONYMOUS_CODING TMEM161B MODERATE|MISSENSE|Gta/Ata|V372I|476|TMEM161B|protein_coding|CODING|ENST00000512429|exon_5_87493486_87493582 0/1:99:231,0,255 . . . 5 87493525 rs75451667 C T NON_SYNONYMOUS_CODING TMEM161B MODERATE|MISSENSE|Gta/Ata|V383I|487|TMEM161B|protein_coding|CODING|ENST00000296595|exon_5_87493486_87493582 0/1:99:231,0,255 . . . 5 87493525 rs75451667 C T NON_SYNONYMOUS_CODING TMEM161B MODERATE|MISSENSE|Gta/Ata|V383I|502|TMEM161B|protein_coding|CODING|ENST00000514135|exon_5_87493486_87493582 0/1:99:231,0,255 . . . 5 89769647 rs3763072 G A NON_SYNONYMOUS_CODING MBLAC2 MODERATE|MISSENSE|Ccc/Tcc|P155S|199|MBLAC2|protein_coding|CODING|ENST00000514906|exon_5_89768260_89770195 0/1:99:204,0,250 1/1:99:255,66,0 . . 5 89925039 rs61744480 A C NON_SYNONYMOUS_CODING GPR98 MODERATE|MISSENSE|Att/Ctt|I508L|2306|GPR98|protein_coding|CODING|ENST00000399043|exon_5_89925027_89925356 . 0/1:99:255,0,255 . . 5 89925039 rs61744480 A C NON_SYNONYMOUS_CODING GPR98 MODERATE|MISSENSE|Att/Ctt|I508L|6306|GPR98|protein_coding|CODING|ENST00000296619|exon_5_89925027_89925356 . 0/1:99:255,0,255 . . 5 89925039 rs61744480 A C NON_SYNONYMOUS_CODING GPR98 MODERATE|MISSENSE|Att/Ctt|I508L|6306|GPR98|protein_coding|CODING|ENST00000405460|exon_5_89925027_89925356 . 0/1:99:255,0,255 . . 5 89979518 rs17544552 C T NON_SYNONYMOUS_CODING GPR98 MODERATE|MISSENSE|aCg/aTg|T1927M|2306|GPR98|protein_coding|CODING|ENST00000399043|exon_5_89979403_89980012 . 0/1:99:228,0,231 0/1:99:202,0,168 1/1:99:255,75,0 5 89979518 rs17544552 C T NON_SYNONYMOUS_CODING GPR98 MODERATE|MISSENSE|aCg/aTg|T1927M|6306|GPR98|protein_coding|CODING|ENST00000296619|exon_5_89979403_89980012 . 0/1:99:228,0,231 0/1:99:202,0,168 1/1:99:255,75,0 5 89979518 rs17544552 C T NON_SYNONYMOUS_CODING GPR98 MODERATE|MISSENSE|aCg/aTg|T1927M|6306|GPR98|protein_coding|CODING|ENST00000405460|exon_5_89979403_89980012 . 0/1:99:228,0,231 0/1:99:202,0,168 1/1:99:255,75,0 5 90119376 . C A NON_SYNONYMOUS_CODING GPR98 MODERATE|MISSENSE|aCa/aAa|T1105K|1967|GPR98|protein_coding|CODING|ENST00000425867|exon_5_90119242_90119413 . 0/1:99:255,0,255 . . 5 90119376 . C A NON_SYNONYMOUS_CODING GPR98 MODERATE|MISSENSE|aCa/aAa|T5444K|6306|GPR98|protein_coding|CODING|ENST00000296619|exon_5_90119242_90119413 . 0/1:99:255,0,255 . . 5 90119376 . C A NON_SYNONYMOUS_CODING GPR98 MODERATE|MISSENSE|aCa/aAa|T5444K|6306|GPR98|protein_coding|CODING|ENST00000405460|exon_5_90119242_90119413 . 0/1:99:255,0,255 . . 5 93722036 rs72771666 G A NON_SYNONYMOUS_CODING KIAA0825 MODERATE|MISSENSE|aCg/aTg|T1177M|1275|KIAA0825|protein_coding|CODING|ENST00000427991|exon_5_93721951_93722109 . 0/1:99:255,0,255 . . 5 93722036 rs72771666 G A NON_SYNONYMOUS_CODING KIAA0825 MODERATE|MISSENSE|aCg/aTg|T1177M|1275|KIAA0825|protein_coding|CODING|ENST00000513200|exon_5_93721951_93722109 . 0/1:99:255,0,255 . . 5 96129543 rs27895 C T NON_SYNONYMOUS_CODING ERAP1 MODERATE|MISSENSE|gGc/gAc|G346D|941|ERAP1|protein_coding|CODING|ENST00000414384|exon_5_96129506_96129660 0/1:99:208,0,255 . . . 5 96129543 rs27895 C T NON_SYNONYMOUS_CODING ERAP1 MODERATE|MISSENSE|gGc/gAc|G346D|941|ERAP1|protein_coding|CODING|ENST00000443439|exon_5_96129506_96129660 0/1:99:208,0,255 . . . 5 96129543 rs27895 C T NON_SYNONYMOUS_CODING ERAP1 MODERATE|MISSENSE|gGc/gAc|G346D|948|ERAP1|protein_coding|CODING|ENST00000296754|exon_5_96129506_96129660 0/1:99:208,0,255 . . . 5 96219561 rs3733905 C T NON_SYNONYMOUS_CODING ERAP2 MODERATE|MISSENSE|cCg/cTg|P214L|350|ERAP2|protein_coding|CODING|ENST00000510309|exon_5_96219496_96219634 0/1:99:255,0,228 . . . 5 96219561 rs3733905 C T NON_SYNONYMOUS_CODING ERAP2 MODERATE|MISSENSE|cCg/cTg|P214L|532|ERAP2|protein_coding|CODING|ENST00000513084|exon_5_96219496_96219634 0/1:99:255,0,228 . . . 5 96219561 rs3733905 C T NON_SYNONYMOUS_CODING ERAP2 MODERATE|MISSENSE|cCg/cTg|P214L|693|ERAP2|protein_coding|CODING|ENST00000510373|exon_5_96219496_96219634 0/1:99:255,0,228 . . . 5 96219561 rs3733905 C T NON_SYNONYMOUS_CODING ERAP2 MODERATE|MISSENSE|cCg/cTg|P214L|915|ERAP2|protein_coding|CODING|ENST00000379904|exon_5_96219496_96219634 0/1:99:255,0,228 . . . 5 96219561 rs3733905 C T NON_SYNONYMOUS_CODING ERAP2 MODERATE|MISSENSE|cCg/cTg|P214L|960|ERAP2|protein_coding|CODING|ENST00000437043|exon_5_96219496_96219634 0/1:99:255,0,228 . . . 5 98109712 rs10078777 A G NON_SYNONYMOUS_CODING RGMB MODERATE|MISSENSE|Aga/Gga|R21G|478|RGMB|protein_coding|CODING|ENST00000308234|exon_5_98109657_98109910 . 0/1:99:153,0,166 . . 5 101631761 rs76381196 T C NON_SYNONYMOUS_CODING SLCO4C1 MODERATE|MISSENSE|aAt/aGt|N69S|724|SLCO4C1|protein_coding|CODING|ENST00000310954|exon_5_101631612_101632253 . . . 0/1:99:208,0,172 5 102282589 rs78753846 C T NON_SYNONYMOUS_CODING PAM MODERATE|MISSENSE|cCa/cTa|P192L|866|PAM|protein_coding|CODING|ENST00000348126|exon_5_102282541_102282589 . 1/1:99:255,96,0 . . 5 102282589 rs78753846 C T NON_SYNONYMOUS_CODING PAM MODERATE|MISSENSE|cCa/cTa|P192L|887|PAM|protein_coding|CODING|ENST00000346918|exon_5_102282541_102282589 . 1/1:99:255,96,0 . . 5 102282589 rs78753846 C T NON_SYNONYMOUS_CODING PAM MODERATE|MISSENSE|cCa/cTa|P192L|905|PAM|protein_coding|CODING|ENST00000455264|exon_5_102282541_102282589 . 1/1:99:255,96,0 . . 5 102282589 rs78753846 C T NON_SYNONYMOUS_CODING PAM MODERATE|MISSENSE|cCa/cTa|P192L|973|PAM|protein_coding|CODING|ENST00000438793|exon_5_102282541_102282589 . 1/1:99:255,96,0 . . 5 102282589 rs78753846 C T NON_SYNONYMOUS_CODING PAM MODERATE|MISSENSE|cCa/cTa|P192L|974|PAM|protein_coding|CODING|ENST00000304400|exon_5_102282541_102282589 . 1/1:99:255,96,0 . . 5 102282589 rs78753846 C T NON_SYNONYMOUS_CODING PAM MODERATE|MISSENSE|cCa/cTa|P95L|875|PAM|protein_coding|CODING|ENST00000274392|exon_5_102282541_102282589 . 1/1:99:255,96,0 . . 5 102310130 rs61736661 A C NON_SYNONYMOUS_CODING PAM MODERATE|MISSENSE|gaA/gaC|E134D|154|PAM|protein_coding|CODING|ENST00000432578|exon_5_102309820_102310140 . 1/1:99:255,90,0 . . 5 102310130 rs61736661 A C NON_SYNONYMOUS_CODING PAM MODERATE|MISSENSE|gaA/gaC|E394D|875|PAM|protein_coding|CODING|ENST00000274392|exon_5_102309820_102310140 . 1/1:99:255,90,0 . . 5 102310130 rs61736661 A C NON_SYNONYMOUS_CODING PAM MODERATE|MISSENSE|gaA/gaC|E491D|887|PAM|protein_coding|CODING|ENST00000346918|exon_5_102309820_102310140 . 1/1:99:255,90,0 . . 5 102310130 rs61736661 A C NON_SYNONYMOUS_CODING PAM MODERATE|MISSENSE|gaA/gaC|E491D|905|PAM|protein_coding|CODING|ENST00000455264|exon_5_102309820_102310140 . 1/1:99:255,90,0 . . 5 102310130 rs61736661 A C NON_SYNONYMOUS_CODING PAM MODERATE|MISSENSE|gaA/gaC|E491D|973|PAM|protein_coding|CODING|ENST00000438793|exon_5_102309820_102310140 . 1/1:99:255,90,0 . . 5 102310130 rs61736661 A C NON_SYNONYMOUS_CODING PAM MODERATE|MISSENSE|gaA/gaC|E491D|974|PAM|protein_coding|CODING|ENST00000304400|exon_5_102309820_102310140 . 1/1:99:255,90,0 . . 5 110428165 . C A NON_SYNONYMOUS_CODING WDR36 MODERATE|MISSENSE|gCc/gAc|A4D|581|WDR36|protein_coding|CODING|ENST00000505303|exon_5_110428019_110428316 0/1:99:190,0,219 . . . 5 110428165 . C A NON_SYNONYMOUS_CODING WDR36 MODERATE|MISSENSE|gCc/gAc|A60D|951|WDR36|protein_coding|CODING|ENST00000506538|exon_5_110427414_110428316 0/1:99:190,0,219 . . . 5 110428165 . C A NON_SYNONYMOUS_CODING WDR36 MODERATE|MISSENSE|gCc/gAc|A60D|951|WDR36|protein_coding|CODING|ENST00000513710|exon_5_110427983_110428316 0/1:99:190,0,219 . . . 5 110428180 rs202177498 C A NON_SYNONYMOUS_CODING WDR36 MODERATE|MISSENSE|aCg/aAg|T65K|951|WDR36|protein_coding|CODING|ENST00000506538|exon_5_110427414_110428316 . . . 0/1:99:194,0,154 5 110428180 rs202177498 C A NON_SYNONYMOUS_CODING WDR36 MODERATE|MISSENSE|aCg/aAg|T65K|951|WDR36|protein_coding|CODING|ENST00000513710|exon_5_110427983_110428316 . . . 0/1:99:194,0,154 5 110428180 rs202177498 C A NON_SYNONYMOUS_CODING WDR36 MODERATE|MISSENSE|aCg/aAg|T9K|581|WDR36|protein_coding|CODING|ENST00000505303|exon_5_110428019_110428316 . . . 0/1:99:194,0,154 5 112824033 . TGCTGC TGCTGCCGCTGC CODON_INSERTION MCC MODERATE||-/GCAGCG|-25AA|1019|MCC|protein_coding|CODING|ENST00000408903|exon_5_112823942_112824527 . 0/1:62:59,0,165 . . 5 112889370 rs75714066 G C NON_SYNONYMOUS_CODING YTHDC2 MODERATE|MISSENSE|Gac/Cac|D561H|1340|YTHDC2|protein_coding|CODING|ENST00000511372|exon_5_112889287_112889383 0/1:99:255,0,246 0/1:99:255,0,226 . . 5 112889370 rs75714066 G C NON_SYNONYMOUS_CODING YTHDC2 MODERATE|MISSENSE|Gac/Cac|D651H|1430|YTHDC2|protein_coding|CODING|ENST00000161863|exon_5_112889287_112889383 0/1:99:255,0,246 0/1:99:255,0,226 . . 5 112889370 rs75714066 G C NON_SYNONYMOUS_CODING YTHDC2 MODERATE|MISSENSE|Gac/Cac|D651H|739|YTHDC2|protein_coding|CODING|ENST00000515883|exon_5_112889287_112889383 0/1:99:255,0,246 0/1:99:255,0,226 . . 5 114469724 rs17137481 T C NON_SYNONYMOUS_CODING TRIM36 MODERATE|MISSENSE|aAt/aGt|N301S|573|TRIM36|protein_coding|CODING|ENST00000514154|exon_5_114469557_114469844 0/1:99:255,0,255 . 0/1:99:255,0,255 . 5 114469724 rs17137481 T C NON_SYNONYMOUS_CODING TRIM36 MODERATE|MISSENSE|aAt/aGt|N444S|716|TRIM36|protein_coding|CODING|ENST00000513154|exon_5_114469557_114469844 0/1:99:255,0,255 . 0/1:99:255,0,255 . 5 114469724 rs17137481 T C NON_SYNONYMOUS_CODING TRIM36 MODERATE|MISSENSE|aAt/aGt|N456S|728|TRIM36|protein_coding|CODING|ENST00000282369|exon_5_114469557_114469844 0/1:99:255,0,255 . 0/1:99:255,0,255 . 5 114469808 rs79290430 T C NON_SYNONYMOUS_CODING TRIM36 MODERATE|MISSENSE|aAa/aGa|K273R|573|TRIM36|protein_coding|CODING|ENST00000514154|exon_5_114469557_114469844 . . 0/1:99:255,0,255 . 5 114469808 rs79290430 T C NON_SYNONYMOUS_CODING TRIM36 MODERATE|MISSENSE|aAa/aGa|K416R|716|TRIM36|protein_coding|CODING|ENST00000513154|exon_5_114469557_114469844 . . 0/1:99:255,0,255 . 5 114469808 rs79290430 T C NON_SYNONYMOUS_CODING TRIM36 MODERATE|MISSENSE|aAa/aGa|K428R|728|TRIM36|protein_coding|CODING|ENST00000282369|exon_5_114469557_114469844 . . 0/1:99:255,0,255 . 5 118861713 rs11205 A G NON_SYNONYMOUS_CODING HSD17B4 MODERATE|MISSENSE|Att/Gtt|I297V|474|HSD17B4|protein_coding|CODING|ENST00000509514|exon_5_118861612_118861718 0/1:99:227,0,255 0/1:99:255,0,255 0/1:99:255,0,255 0/1:99:255,0,255 5 118861713 rs11205 A G NON_SYNONYMOUS_CODING HSD17B4 MODERATE|MISSENSE|Att/Gtt|I419V|596|HSD17B4|protein_coding|CODING|ENST00000414835|exon_5_118861612_118861718 0/1:99:227,0,255 0/1:99:255,0,255 0/1:99:255,0,255 0/1:99:255,0,255 5 118861713 rs11205 A G NON_SYNONYMOUS_CODING HSD17B4 MODERATE|MISSENSE|Att/Gtt|I422V|599|HSD17B4|protein_coding|CODING|ENST00000513628|exon_5_118861612_118861718 0/1:99:227,0,255 0/1:99:255,0,255 0/1:99:255,0,255 0/1:99:255,0,255 5 118861713 rs11205 A G NON_SYNONYMOUS_CODING HSD17B4 MODERATE|MISSENSE|Att/Gtt|I535V|712|HSD17B4|protein_coding|CODING|ENST00000510025|exon_5_118861612_118861718 0/1:99:227,0,255 0/1:99:255,0,255 0/1:99:255,0,255 0/1:99:255,0,255 5 118861713 rs11205 A G NON_SYNONYMOUS_CODING HSD17B4 MODERATE|MISSENSE|Att/Gtt|I541V|718|HSD17B4|protein_coding|CODING|ENST00000515320|exon_5_118861612_118861718 0/1:99:227,0,255 0/1:99:255,0,255 0/1:99:255,0,255 0/1:99:255,0,255 5 118861713 rs11205 A G NON_SYNONYMOUS_CODING HSD17B4 MODERATE|MISSENSE|Att/Gtt|I559V|736|HSD17B4|protein_coding|CODING|ENST00000256216|exon_5_118861612_118861718 0/1:99:227,0,255 0/1:99:255,0,255 0/1:99:255,0,255 0/1:99:255,0,255 5 118861713 rs11205 A G NON_SYNONYMOUS_CODING HSD17B4 MODERATE|MISSENSE|Att/Gtt|I584V|761|HSD17B4|protein_coding|CODING|ENST00000504811|exon_5_118861612_118861718 0/1:99:227,0,255 0/1:99:255,0,255 0/1:99:255,0,255 0/1:99:255,0,255 5 120021817 rs17853861 C A NON_SYNONYMOUS_CODING PRR16 MODERATE|MISSENSE|Ccg/Acg|P110T|304|PRR16|protein_coding|CODING|ENST00000407149|exon_5_120021649_120023027 0/1:99:238,0,223 . . . 5 120021817 rs17853861 C A NON_SYNONYMOUS_CODING PRR16 MODERATE|MISSENSE|Ccg/Acg|P40T|141|PRR16|protein_coding|CODING|ENST00000509923|exon_5_120021649_120022126 0/1:99:238,0,223 . . . 5 120021817 rs17853861 C A NON_SYNONYMOUS_CODING PRR16 MODERATE|MISSENSE|Ccg/Acg|P40T|234|PRR16|protein_coding|CODING|ENST00000446965|exon_5_120021649_120022598 0/1:99:238,0,223 . . . 5 120021817 rs17853861 C A NON_SYNONYMOUS_CODING PRR16 MODERATE|MISSENSE|Ccg/Acg|P40T|234|PRR16|protein_coding|CODING|ENST00000505123|exon_5_120021649_120022625 0/1:99:238,0,223 . . . 5 120021817 rs17853861 C A NON_SYNONYMOUS_CODING PRR16 MODERATE|MISSENSE|Ccg/Acg|P87T|281|PRR16|protein_coding|CODING|ENST00000379551|exon_5_120021649_120023027 0/1:99:238,0,223 . . . 5 121488203 rs2560306 G A NON_SYNONYMOUS_CODING ZNF474 MODERATE|MISSENSE|cGc/cAc|R173H|364|ZNF474|protein_coding|CODING|ENST00000296600|exon_5_121487474_121489266 0/1:99:255,0,255 . . . 5 122729032 . T C NON_SYNONYMOUS_CODING CEP120 MODERATE|MISSENSE|Att/Gtt|I232V|843|CEP120|protein_coding|CODING|ENST00000508442|exon_5_122728994_122729191 . . . 0/1:99:255,0,255 5 122729032 . T C NON_SYNONYMOUS_CODING CEP120 MODERATE|MISSENSE|Att/Gtt|I232V|960|CEP120|protein_coding|CODING|ENST00000306481|exon_5_122728994_122729191 . . . 0/1:99:255,0,255 5 122729032 . T C NON_SYNONYMOUS_CODING CEP120 MODERATE|MISSENSE|Att/Gtt|I258V|380|CEP120|protein_coding|CODING|ENST00000395431|exon_5_122728994_122729191 . . . 0/1:99:255,0,255 5 122729032 . T C NON_SYNONYMOUS_CODING CEP120 MODERATE|MISSENSE|Att/Gtt|I258V|986|CEP120|protein_coding|CODING|ENST00000306467|exon_5_122728994_122729191 . . . 0/1:99:255,0,255 5 122729032 . T C NON_SYNONYMOUS_CODING CEP120 MODERATE|MISSENSE|Att/Gtt|I258V|986|CEP120|protein_coding|CODING|ENST00000328236|exon_5_122728994_122729191 . . . 0/1:99:255,0,255 5 126250812 rs34821177 C T NON_SYNONYMOUS_CODING MARCH3 MODERATE|MISSENSE|cGg/cAg|R68Q|138|MARCH3|protein_coding|CODING|ENST00000515241|exon_5_126250353_126250826 . . 0/1:74:194,0,71 0/1:99:235,0,201 5 126250812 rs34821177 C T NON_SYNONYMOUS_CODING MARCH3 MODERATE|MISSENSE|cGg/cAg|R68Q|253|MARCH3|protein_coding|CODING|ENST00000308660|exon_5_126250622_126250826 . . 0/1:74:194,0,71 0/1:99:235,0,201 5 126732427 rs3812054 G A NON_SYNONYMOUS_CODING MEGF10 MODERATE|MISSENSE|Gtc/Atc|V206I|1140|MEGF10|protein_coding|CODING|ENST00000274473|exon_5_126732224_126732470 . . 1/1:99:255,66,0 0/1:99:247,0,255 5 126732427 rs3812054 G A NON_SYNONYMOUS_CODING MEGF10 MODERATE|MISSENSE|Gtc/Atc|V206I|1140|MEGF10|protein_coding|CODING|ENST00000503335|exon_5_126732224_126732470 . . 1/1:99:255,66,0 0/1:99:247,0,255 5 126732427 rs3812054 G A NON_SYNONYMOUS_CODING MEGF10 MODERATE|MISSENSE|Gtc/Atc|V206I|567|MEGF10|protein_coding|CODING|ENST00000418761|exon_5_126732224_126732470 . . 1/1:99:255,66,0 0/1:99:247,0,255 5 126732427 rs3812054 G A NON_SYNONYMOUS_CODING MEGF10 MODERATE|MISSENSE|Gtc/Atc|V206I|567|MEGF10|protein_coding|CODING|ENST00000508365|exon_5_126732224_126732470 . . 1/1:99:255,66,0 0/1:99:247,0,255 5 126791282 rs17164935 G A NON_SYNONYMOUS_CODING MEGF10 MODERATE|MISSENSE|aGg/aAg|R1072K|1140|MEGF10|protein_coding|CODING|ENST00000274473|exon_5_126791093_126791299 . . 1/1:99:255,105,0 . 5 126791282 rs17164935 G A NON_SYNONYMOUS_CODING MEGF10 MODERATE|MISSENSE|aGg/aAg|R1072K|1140|MEGF10|protein_coding|CODING|ENST00000503335|exon_5_126791093_126791299 . . 1/1:99:255,105,0 . 5 127514316 rs115472345 G A NON_SYNONYMOUS_CODING SLC12A2 MODERATE|MISSENSE|aGt/aAt|S1012N|1212|SLC12A2|protein_coding|CODING|ENST00000262461|exon_5_127514259_127514381 0/1:99:255,0,255 . . . 5 127514316 rs115472345 G A NON_SYNONYMOUS_CODING SLC12A2 MODERATE|MISSENSE|aGt/aAt|S996N|1196|SLC12A2|protein_coding|CODING|ENST00000343225|exon_5_127514259_127514381 0/1:99:255,0,255 . . . 5 128301885 rs2526247 T G NON_SYNONYMOUS_CODING SLC27A6 MODERATE|MISSENSE|Ttg/Gtg|L19V|619|SLC27A6|protein_coding|CODING|ENST00000262462|exon_5_128300821_128302311 0/1:99:233,0,211 1/1:99:255,78,0 . 0/1:99:100,0,239 5 128301885 rs2526247 T G NON_SYNONYMOUS_CODING SLC27A6 MODERATE|MISSENSE|Ttg/Gtg|L19V|619|SLC27A6|protein_coding|CODING|ENST00000395266|exon_5_128301671_128302311 0/1:99:233,0,211 1/1:99:255,78,0 . 0/1:99:100,0,239 5 128301885 rs2526247 T G NON_SYNONYMOUS_CODING SLC27A6 MODERATE|MISSENSE|Ttg/Gtg|L19V|619|SLC27A6|protein_coding|CODING|ENST00000506176|exon_5_128301567_128302311 0/1:99:233,0,211 1/1:99:255,78,0 . 0/1:99:100,0,239 5 128796893 rs149861653 G A NON_SYNONYMOUS_CODING ADAMTS19 MODERATE|MISSENSE|Gcg/Acg|A58T|1207|ADAMTS19|protein_coding|CODING|ENST00000274487|exon_5_128796795_128797450 . . 0/1:99:107,0,117 . 5 128797315 . TCCCGGCCCCGGCCCC TCCCGGCCCCGGCCCCGGCCCC CODON_INSERTION ADAMTS19 MODERATE||-/GGCCCC|-204GP|1207|ADAMTS19|protein_coding|CODING|ENST00000274487|exon_5_128796795_128797450 . 0/1:81:78,0,255 . . 5 131953827 rs104895051 G A NON_SYNONYMOUS_CODING RAD50 MODERATE|MISSENSE|cGa/cAa|R1077Q|1312|RAD50|protein_coding|CODING|ENST00000265335|exon_5_131953762_131953986 0/1:99:255,0,255 . . . 5 131953827 rs104895051 G A NON_SYNONYMOUS_CODING RAD50 MODERATE|MISSENSE|cGa/cAa|R938Q|1173|RAD50|protein_coding|CODING|ENST00000378823|exon_5_131953762_131953986 0/1:99:255,0,255 . . . 5 132161255 rs201403774 C T NON_SYNONYMOUS_CODING SHROOM1 MODERATE|MISSENSE|gGc/gAc|G193D|323|SHROOM1|protein_coding|CODING|ENST00000440118|exon_5_132160861_132161874 . . 0/1:99:129,0,126 . 5 132161255 rs201403774 C T NON_SYNONYMOUS_CODING SHROOM1 MODERATE|MISSENSE|gGc/gAc|G193D|783|SHROOM1|protein_coding|CODING|ENST00000378676|exon_5_132160855_132161832 . . 0/1:99:129,0,126 . 5 132161255 rs201403774 C T NON_SYNONYMOUS_CODING SHROOM1 MODERATE|MISSENSE|gGc/gAc|G193D|847|SHROOM1|protein_coding|CODING|ENST00000319854|exon_5_132160855_132162002 . . 0/1:99:129,0,126 . 5 132161255 rs201403774 C T NON_SYNONYMOUS_CODING SHROOM1 MODERATE|MISSENSE|gGc/gAc|G193D|852|SHROOM1|protein_coding|CODING|ENST00000378679|exon_5_132160855_132161874 . . 0/1:99:129,0,126 . 5 132652281 rs17683306 C T NON_SYNONYMOUS_CODING FSTL4 MODERATE|MISSENSE|cGt/cAt|R158H|842|FSTL4|protein_coding|CODING|ENST00000265342|exon_5_132652151_132652344 . . 0/1:99:136,0,255 . 5 132918994 rs256266 G A NON_SYNONYMOUS_CODING FSTL4 MODERATE|MISSENSE|Cat/Tat|H32Y|156|FSTL4|protein_coding|CODING|ENST00000510685|exon_5_132918956_132919332 . . 0/1:99:125,0,236 0/1:99:255,0,149 5 133481467 rs30489 G A NON_SYNONYMOUS_CODING TCF7 MODERATE|MISSENSE|Gga/Aga|G256R|269|TCF7|protein_coding|CODING|ENST00000518915|exon_5_133481432_133481876 . . . 0/1:99:255,0,255 5 133481467 rs30489 G A NON_SYNONYMOUS_CODING TCF7 MODERATE|MISSENSE|Gga/Aga|G371R|384|TCF7|protein_coding|CODING|ENST00000321584|exon_5_133481432_133481511 . . . 0/1:99:255,0,255 5 133997171 rs79561592 C T NON_SYNONYMOUS_CODING SEC24A MODERATE|MISSENSE|Cgt/Tgt|R154C|1093|SEC24A|protein_coding|CODING|ENST00000398844|exon_5_133996809_133997276 0/1:99:255,0,254 . . . 5 133997171 rs79561592 C T NON_SYNONYMOUS_CODING SEC24A MODERATE|MISSENSE|Cgt/Tgt|R154C|613|SEC24A|protein_coding|CODING|ENST00000322887|exon_5_133996809_133997276 0/1:99:255,0,254 . . . 5 134076812 rs12657663 G A NON_SYNONYMOUS_CODING CAMLG MODERATE|MISSENSE|Gtt/Att|V78I|296|CAMLG|protein_coding|CODING|ENST00000297156|exon_5_134076753_134077213 0/1:99:255,0,255 . 0/1:99:255,0,212 . 5 134678863 rs868733 G A NON_SYNONYMOUS_CODING CTC-203F4.1.1 MODERATE|MISSENSE|Gca/Aca|A49T|145|CTC-203F4.1.1|protein_coding|CODING|ENST00000432382|exon_5_134678845_134680375 . . . 0/1:99:191,0,255 5 135288632 rs62623707 A G NON_SYNONYMOUS_CODING LECT2 MODERATE|MISSENSE|aTa/aCa|I24T|111|LECT2|protein_coding|CODING|ENST00000514447|exon_5_135288560_135288656 . . . 0/1:99:250,0,255 5 135288632 rs62623707 A G NON_SYNONYMOUS_CODING LECT2 MODERATE|MISSENSE|aTa/aCa|I24T|131|LECT2|protein_coding|CODING|ENST00000522943|exon_5_135288560_135288656 . . . 0/1:99:250,0,255 5 135288632 rs62623707 A G NON_SYNONYMOUS_CODING LECT2 MODERATE|MISSENSE|aTa/aCa|I24T|151|LECT2|protein_coding|CODING|ENST00000274507|exon_5_135288560_135288656 . . . 0/1:99:250,0,255 5 137515394 . C T NON_SYNONYMOUS_CODING KIF20A MODERATE|MISSENSE|Cca/Tca|P9S|158|KIF20A|protein_coding|CODING|ENST00000513276|exon_5_137515349_137515534 . . 0/1:99:169,0,255 . 5 137515394 . C T NON_SYNONYMOUS_CODING KIF20A MODERATE|MISSENSE|Cca/Tca|P9S|224|KIF20A|protein_coding|CODING|ENST00000504621|exon_5_137515349_137515534 . . 0/1:99:169,0,255 . 5 137515394 . C T NON_SYNONYMOUS_CODING KIF20A MODERATE|MISSENSE|Cca/Tca|P9S|872|KIF20A|protein_coding|CODING|ENST00000508792|exon_5_137515349_137515534 . . 0/1:99:169,0,255 . 5 137515394 . C T NON_SYNONYMOUS_CODING KIF20A MODERATE|MISSENSE|Cca/Tca|P9S|890|KIF20A|protein_coding|CODING|ENST00000394894|exon_5_137515349_137515534 . . 0/1:99:169,0,255 . 5 138463538 rs11555154 G C NON_SYNONYMOUS_CODING SIL1 MODERATE|MISSENSE|Ctg/Gtg|L7V|468|SIL1|protein_coding|CODING|ENST00000509534|exon_5_138463428_138463542 0/1:99:255,0,248 . . . 5 138463538 rs11555154 G C NON_SYNONYMOUS_CODING SIL1 MODERATE|MISSENSE|Ctg/Gtg|L9V|122|SIL1|protein_coding|CODING|ENST00000505830|exon_5_138463428_138463542 0/1:99:255,0,248 . . . 5 138463538 rs11555154 G C NON_SYNONYMOUS_CODING SIL1 MODERATE|MISSENSE|Ctg/Gtg|L9V|124|SIL1|protein_coding|CODING|ENST00000507002|exon_5_138463428_138463542 0/1:99:255,0,248 . . . 5 139422531 . CGCTGCTGCTGCTGCTGCTGCTGCTGCT CGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT CODON_CHANGE_PLUS_CODON_INSERTION NRG2 MODERATE||agg/agAGCAGCAGCg|R32RAAA|425|NRG2|protein_coding|CODING|ENST00000378238|exon_5_139421955_139422654 0/1:90:87,0,128 . . . 5 139422531 . CGCTGCTGCTGCTGCTGCTGCTGCTGCT CGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT CODON_CHANGE_PLUS_CODON_INSERTION NRG2 MODERATE||agg/agAGCAGCAGCg|R32RAAA|426|NRG2|protein_coding|CODING|ENST00000394770|exon_5_139421955_139422879 0/1:90:87,0,128 . . . 5 139422531 . CGCTGCTGCTGCTGCTGCTGCTGCTGCT CGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT CODON_CHANGE_PLUS_CODON_INSERTION NRG2 MODERATE||agg/agAGCAGCAGCg|R32RAAA|784|NRG2|protein_coding|CODING|ENST00000541337|exon_5_139421955_139422884 0/1:90:87,0,128 . . . 5 139422531 . CGCTGCTGCTGCTGCTGCTGCTGCTGCT CGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT CODON_CHANGE_PLUS_CODON_INSERTION NRG2 MODERATE||agg/agAGCAGCAGCg|R32RAAA|844|NRG2|protein_coding|CODING|ENST00000289409|exon_5_139421955_139422654 0/1:90:87,0,128 . . . 5 139422531 . CGCTGCTGCTGCTGCTGCTGCTGCTGCT CGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT CODON_CHANGE_PLUS_CODON_INSERTION NRG2 MODERATE||agg/agAGCAGCAGCg|R32RAAA|850|NRG2|protein_coding|CODING|ENST00000361474|exon_5_139421955_139422879 0/1:90:87,0,128 . . . 5 139422531 . CGCTGCTGCTGCTGCTGCTGCTGCTGCT CGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT CODON_CHANGE_PLUS_CODON_INSERTION NRG2 MODERATE||agg/agAGCAGCAGCg|R32RAAA|852|NRG2|protein_coding|CODING|ENST00000358522|exon_5_139421955_139422654 0/1:90:87,0,128 . . . 5 139422531 . CGCTGCTGCTGCTGCTGCTGCTGCTGCT CGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT CODON_CHANGE_PLUS_CODON_INSERTION NRG2 MODERATE||agg/agAGCAGCAGCg|R32RAAA|852|NRG2|protein_coding|CODING|ENST00000545385|exon_5_139421955_139422879 0/1:90:87,0,128 . . . 5 139422531 . CGCTGCTGCTGCTGCTGCTGCTGCTGCT CGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT CODON_CHANGE_PLUS_CODON_INSERTION NRG2 MODERATE||agg/agAGCAGCAGCg|R32RAAA|858|NRG2|protein_coding|CODING|ENST00000289422|exon_5_139421955_139422732 0/1:90:87,0,128 . . . 5 139422531 . CGCTGCTGCTGCTGCTGCTGCTGCTGCT CGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT CODON_CHANGE_PLUS_CODON_INSERTION NRG2 MODERATE||agg/agAGCAGCAGCg|R32RAAA|858|NRG2|protein_coding|CODING|ENST00000446269|exon_5_139421955_139422879 0/1:90:87,0,128 . . . 5 139508113 rs115235886 A G NON_SYNONYMOUS_CODING IGIP MODERATE|MISSENSE|Acc/Gcc|T18A|53|IGIP|protein_coding|CODING|ENST00000333305|exon_5_139505521_139508391 . 0/1:99:255,0,255 . . 5 140166686 rs115085380 G C NON_SYNONYMOUS_CODING PCDHA1 MODERATE|MISSENSE|Gaa/Caa|E271Q|686|PCDHA1|protein_coding|CODING|ENST00000394633|exon_5_140165876_140167477 . . . 0/1:99:249,0,255 5 140166686 rs115085380 G C NON_SYNONYMOUS_CODING PCDHA1 MODERATE|MISSENSE|Gaa/Caa|E271Q|807|PCDHA1|protein_coding|CODING|ENST00000378133|exon_5_140165876_140168446 . . . 0/1:99:249,0,255 5 140166686 rs115085380 G C NON_SYNONYMOUS_CODING PCDHA1 MODERATE|MISSENSE|Gaa/Caa|E271Q|950|PCDHA1|protein_coding|CODING|ENST00000504120|exon_5_140165876_140168269 . . . 0/1:99:249,0,255 5 140188354 rs142480630 C G NON_SYNONYMOUS_CODING PCDHA4 MODERATE|MISSENSE|Cta/Gta|L528V|798|PCDHA4|protein_coding|CODING|ENST00000356878|exon_5_140186672_140189169 . 0/1:60:57,0,193 . . 5 140188354 rs142480630 C G NON_SYNONYMOUS_CODING PCDHA4 MODERATE|MISSENSE|Cta/Gta|L528V|901|PCDHA4|protein_coding|CODING|ENST00000512229|exon_5_140186659_140189157 . 0/1:60:57,0,193 . . 5 140188354 rs142480630 C G NON_SYNONYMOUS_CODING PCDHA4 MODERATE|MISSENSE|Cta/Gta|L528V|947|PCDHA4|protein_coding|CODING|ENST00000530339|exon_5_140186773_140189157 . 0/1:60:57,0,193 . . 5 140216042 rs61730623 G A NON_SYNONYMOUS_CODING PCDHA7 MODERATE|MISSENSE|Gag/Aag|E692K|789|PCDHA7|protein_coding|CODING|ENST00000378125|exon_5_140213969_140216338 . 0/1:99:236,0,255 . . 5 140216042 rs61730623 G A NON_SYNONYMOUS_CODING PCDHA7 MODERATE|MISSENSE|Gag/Aag|E692K|937|PCDHA7|protein_coding|CODING|ENST00000525929|exon_5_140213969_140216323 . 0/1:99:236,0,255 . . 5 140222738 rs62622825 T A NON_SYNONYMOUS_CODING PCDHA8 MODERATE|MISSENSE|cTg/cAg|L611Q|814|PCDHA8|protein_coding|CODING|ENST00000378123|exon_5_140220907_140223351 . . 0/1:99:255,0,172 . 5 140222738 rs62622825 T A NON_SYNONYMOUS_CODING PCDHA8 MODERATE|MISSENSE|cTg/cAg|L611Q|950|PCDHA8|protein_coding|CODING|ENST00000531613|exon_5_140220907_140223300 . . 0/1:99:255,0,172 . 5 140237158 rs142356019 G A NON_SYNONYMOUS_CODING PCDHA10 MODERATE|MISSENSE|Gtg/Atg|V509M|685|PCDHA10|protein_coding|CODING|ENST00000506939|exon_5_140235595_140237232 . 0/1:99:134,0,233 . . 5 140237158 rs142356019 G A NON_SYNONYMOUS_CODING PCDHA10 MODERATE|MISSENSE|Gtg/Atg|V509M|948|PCDHA10|protein_coding|CODING|ENST00000307360|exon_5_140235634_140238021 . 0/1:99:134,0,233 . . 5 140433389 rs246679 C G NON_SYNONYMOUS_CODING PCDHB1 MODERATE|MISSENSE|ttC/ttG|F778L|818|PCDHB1|protein_coding|CODING|ENST00000306549|exon_5_140430979_140433512 . . 0/1:99:255,0,255 . 5 140475852 rs17844375 T C NON_SYNONYMOUS_CODING PCDHB2 MODERATE|MISSENSE|cTg/cCg|L493P|798|PCDHB2|protein_coding|CODING|ENST00000194155|exon_5_140474227_140476962 0/1:74:71,0,212 . . . 5 140516407 rs17844422 G A NON_SYNONYMOUS_CODING PCDHB5 MODERATE|MISSENSE|aGc/aAc|S248N|368|PCDHB5|protein_coding|CODING|ENST00000537936|exon_5_140515665_140516663 0/1:99:154,0,210 . . . 5 140516407 rs17844422 G A NON_SYNONYMOUS_CODING PCDHB5 MODERATE|MISSENSE|aGc/aAc|S464N|795|PCDHB5|protein_coding|CODING|ENST00000231134|exon_5_140514800_140517703 0/1:99:154,0,210 . . . 5 140517034 rs139801121 C G NON_SYNONYMOUS_CODING PCDHB5 MODERATE|MISSENSE|cCg/cGg|P673R|795|PCDHB5|protein_coding|CODING|ENST00000231134|exon_5_140514800_140517703 . 0/1:99:156,0,255 . . 5 140517111 rs139660958 C T NON_SYNONYMOUS_CODING PCDHB5 MODERATE|MISSENSE|Ctc/Ttc|L699F|795|PCDHB5|protein_coding|CODING|ENST00000231134|exon_5_140514800_140517703 . . 0/1:99:195,0,225 . 5 140531700 rs143378502 A G NON_SYNONYMOUS_CODING PCDHB6 MODERATE|MISSENSE|gAg/gGg|E485G|658|PCDHB6|protein_coding|CODING|ENST00000543635|exon_5_140530076_140532487 . . 0/1:99:139,0,217 . 5 140531700 rs143378502 A G NON_SYNONYMOUS_CODING PCDHB6 MODERATE|MISSENSE|gAg/gGg|E621G|794|PCDHB6|protein_coding|CODING|ENST00000231136|exon_5_140529839_140532868 . . 0/1:99:139,0,217 . 5 140531888 rs61740378 C T NON_SYNONYMOUS_CODING PCDHB6 MODERATE|MISSENSE|Ctc/Ttc|L548F|658|PCDHB6|protein_coding|CODING|ENST00000543635|exon_5_140530076_140532487 . . 0/1:99:180,0,239 . 5 140531888 rs61740378 C T NON_SYNONYMOUS_CODING PCDHB6 MODERATE|MISSENSE|Ctc/Ttc|L684F|794|PCDHB6|protein_coding|CODING|ENST00000231136|exon_5_140529839_140532868 . . 0/1:99:180,0,239 . 5 140537137 rs201741342 G A NON_SYNONYMOUS_CODING AC005754.1 MODERATE|MISSENSE|Gac/Aac|D521N|587|AC005754.1|protein_coding|CODING|ENST00000539533|exon_5_140535577_140538639 . . 0/1:99:187,0,228 . 5 140553483 rs145994411 T C NON_SYNONYMOUS_CODING PCDHB7 MODERATE|MISSENSE|aTt/aCt|I139T|368|PCDHB7|protein_coding|CODING|ENST00000543636|exon_5_140553068_140554066 . . . 0/1:99:252,0,211 5 140553483 rs145994411 T C NON_SYNONYMOUS_CODING PCDHB7 MODERATE|MISSENSE|aTt/aCt|I356T|793|PCDHB7|protein_coding|CODING|ENST00000231137|exon_5_140552243_140555957 . . . 0/1:99:252,0,211 5 140554140 rs13189280 C T NON_SYNONYMOUS_CODING PCDHB7 MODERATE|MISSENSE|Cgt/Tgt|R358C|368|PCDHB7|protein_coding|CODING|ENST00000543636|exon_5_140554068_140554175 . 0/1:70:67,0,255 . . 5 140554140 rs13189280 C T NON_SYNONYMOUS_CODING PCDHB7 MODERATE|MISSENSE|cCg/cTg|P575L|793|PCDHB7|protein_coding|CODING|ENST00000231137|exon_5_140552243_140555957 . 0/1:70:67,0,255 . . 5 140554142 rs13174866 T G NON_SYNONYMOUS_CODING PCDHB7 MODERATE|MISSENSE|Ttg/Gtg|L576V|793|PCDHB7|protein_coding|CODING|ENST00000231137|exon_5_140552243_140555957 . 0/1:71:68,0,238 . . 5 140554562 rs2910314 A T NON_SYNONYMOUS_CODING PCDHB7 MODERATE|MISSENSE|Agg/Tgg|R716W|793|PCDHB7|protein_coding|CODING|ENST00000231137|exon_5_140552243_140555957 0/1:99:227,0,190 . . . 5 140558212 rs2950845 A C NON_SYNONYMOUS_CODING PCDHB8 MODERATE|MISSENSE|aaA/aaC|K199N|801|PCDHB8|protein_coding|CODING|ENST00000239444|exon_5_140557371_140560081 0/1:99:147,0,130 . . . 5 140558345 rs2950844 G C NON_SYNONYMOUS_CODING PCDHB8 MODERATE|MISSENSE|Gag/Cag|E244Q|801|PCDHB8|protein_coding|CODING|ENST00000239444|exon_5_140557371_140560081 0/1:99:255,0,155 . . . 5 140563708 rs17844651 G A NON_SYNONYMOUS_CODING PCDHB16 MODERATE|MISSENSE|cGg/cAg|R525Q|776|PCDHB16|protein_coding|CODING|ENST00000361016|exon_5_140560980_140565793 . . 1/1:39:81,21,0 . 5 140563712 rs17844653 G T NON_SYNONYMOUS_CODING PCDHB16 MODERATE|MISSENSE|gaG/gaT|E526D|776|PCDHB16|protein_coding|CODING|ENST00000361016|exon_5_140560980_140565793 . . 1/1:39:80,21,0 . 5 140572763 rs2907323 C G NON_SYNONYMOUS_CODING PCDHB10 MODERATE|MISSENSE|aCa/aGa|T213R|800|PCDHB10|protein_coding|CODING|ENST00000239446|exon_5_140571942_140575215 0/1:99:211,0,235 . . . 5 140589738 rs2910327 C T NON_SYNONYMOUS_CODING PCDHB12 MODERATE|MISSENSE|aCc/aTc|T40I|417|PCDHB12|protein_coding|CODING|ENST00000507840|exon_5_140589620_140590866 0/1:86:83,0,255 . . . 5 140589738 rs2910327 C T NON_SYNONYMOUS_CODING PCDHB12 MODERATE|MISSENSE|aCc/aTc|T420I|795|PCDHB12|protein_coding|CODING|ENST00000239450|exon_5_140588291_140591696 0/1:86:83,0,255 . . . 5 140589738 rs2910327 C T NON_SYNONYMOUS_CODING PCDHB12 MODERATE|MISSENSE|aCc/aTc|T83I|458|PCDHB12|protein_coding|CODING|ENST00000541609|exon_5_140589393_140591109 0/1:86:83,0,255 . . . 5 140595625 rs2910005 G A NON_SYNONYMOUS_CODING PCDHB13 MODERATE|MISSENSE|Gtc/Atc|V590I|744|PCDHB13|protein_coding|CODING|ENST00000419217|exon_5_140595337_140596092 0/1:99:192,0,160 . . . 5 140595625 rs2910005 G A NON_SYNONYMOUS_CODING PCDHB13 MODERATE|MISSENSE|Gtc/Atc|V644I|798|PCDHB13|protein_coding|CODING|ENST00000341948|exon_5_140593509_140596993 0/1:99:192,0,160 . . . 5 140595625 rs2910005 G A NON_SYNONYMOUS_CODING PCDHB13 MODERATE|MISSENSE|Gtc/Atc|V644I|802|PCDHB13|protein_coding|CODING|ENST00000430318|exon_5_140593528_140596066 0/1:99:192,0,160 . . . 5 140712299 rs62378404 A T NON_SYNONYMOUS_CODING PCDHGA1 MODERATE|MISSENSE|aAa/aTa|K683I|823|PCDHGA1|protein_coding|CODING|ENST00000378105|exon_5_140710252_140712723 . 0/1:99:226,0,185 1/1:99:255,78,0 0/1:99:129,0,148 5 140712299 rs62378404 A T NON_SYNONYMOUS_CODING PCDHGA1 MODERATE|MISSENSE|aAa/aTa|K683I|931|PCDHGA1|protein_coding|CODING|ENST00000517417|exon_5_140710252_140712672 . 0/1:99:226,0,185 1/1:99:255,78,0 0/1:99:129,0,148 5 140724060 rs11575948 A C NON_SYNONYMOUS_CODING PCDHGA3 MODERATE|MISSENSE|Att/Ctt|I154L|932|PCDHGA3|protein_coding|CODING|ENST00000253812|exon_5_140723601_140726024 . . 1/1:99:255,114,0 0/1:99:255,0,255 5 140730384 rs62378414 G T NON_SYNONYMOUS_CODING PCDHGB1 MODERATE|MISSENSE|aGt/aTt|S186I|927|PCDHGB1|protein_coding|CODING|ENST00000523390|exon_5_140729828_140732236 . . 1/1:99:255,99,0 0/1:99:255,0,255 5 140731022 rs77250251 A G NON_SYNONYMOUS_CODING PCDHGB1 MODERATE|MISSENSE|Aag/Gag|K399E|927|PCDHGB1|protein_coding|CODING|ENST00000523390|exon_5_140729828_140732236 . . 1/1:99:255,111,0 0/1:99:255,0,255 5 140741738 rs62378417 G C NON_SYNONYMOUS_CODING PCDHGB2 MODERATE|MISSENSE|cGg/cCg|R679P|931|PCDHGB2|protein_coding|CODING|ENST00000522605|exon_5_140739703_140742123 . . 1/1:99:255,90,0 0/1:99:190,0,255 5 140741761 rs57735633 A G NON_SYNONYMOUS_CODING PCDHGB2 MODERATE|MISSENSE|Aaa/Gaa|K687E|931|PCDHGB2|protein_coding|CODING|ENST00000522605|exon_5_140739703_140742123 . . 1/1:99:255,102,0 0/1:99:233,0,255 5 140744997 rs151160787 C T NON_SYNONYMOUS_CODING PCDHGA5 MODERATE|MISSENSE|gCg/gTg|A367V|931|PCDHGA5|protein_coding|CODING|ENST00000518069|exon_5_140743898_140746318 0/1:99:255,0,255 . . . 5 140763100 rs2240698 C T NON_SYNONYMOUS_CODING PCDHGA7 MODERATE|MISSENSE|Ctc/Ttc|L212F|932|PCDHGA7|protein_coding|CODING|ENST00000518325|exon_5_140762467_140764890 0/1:99:159,0,249 . . . 5 140767491 . CTGCCAGTGC CTGC CODON_CHANGE_PLUS_CODON_DELETION PCDHGB4 MODERATE||ccagtgctc/ctc|PVL15L|923|PCDHGB4|protein_coding|CODING|ENST00000519479|exon_5_140767452_140769848 . 0/1:95:92,0,164 . . 5 140774689 rs72790033 T C NON_SYNONYMOUS_CODING PCDHGA8 MODERATE|MISSENSE|tTt/tCt|F770S|932|PCDHGA8|protein_coding|CODING|ENST00000398604|exon_5_140772381_140774804 . 0/1:99:206,0,198 . . 5 140867087 rs115565444 G A NON_SYNONYMOUS_CODING PCDHGC4 MODERATE|MISSENSE|Gat/Aat|D783N|938|PCDHGC4|protein_coding|CODING|ENST00000306593|exon_5_140864741_140867182 0/1:99:161,0,250 . . . 5 141021096 rs32957 G A NON_SYNONYMOUS_CODING FCHSD1 MODERATE|MISSENSE|cCg/cTg|P681L|690|FCHSD1|protein_coding|CODING|ENST00000435817|exon_5_141018869_141021130 . . 1/1:99:255,60,0 0/1:99:202,0,160 5 141059158 rs1031904 C G NON_SYNONYMOUS_CODING ARAP3 MODERATE|MISSENSE|Gac/Cac|D140H|1375|ARAP3|protein_coding|CODING|ENST00000508305|exon_5_141059112_141059223 0/1:99:238,0,237 . . . 5 141059158 rs1031904 C G NON_SYNONYMOUS_CODING ARAP3 MODERATE|MISSENSE|Gac/Cac|D140H|390|ARAP3|protein_coding|CODING|ENST00000522690|exon_5_141059112_141059223 0/1:99:238,0,237 . . . 5 141059158 rs1031904 C G NON_SYNONYMOUS_CODING ARAP3 MODERATE|MISSENSE|Gac/Cac|D218H|1544|ARAP3|protein_coding|CODING|ENST00000239440|exon_5_141059112_141059223 0/1:99:238,0,237 . . . 5 141059158 rs1031904 C G NON_SYNONYMOUS_CODING ARAP3 MODERATE|MISSENSE|Gac/Cac|D218H|472|ARAP3|protein_coding|CODING|ENST00000504448|exon_5_141059112_141059223 0/1:99:238,0,237 . . . 5 141249139 . G A NON_SYNONYMOUS_CODING PCDH1 MODERATE|MISSENSE|Cgg/Tgg|R6W|1071|PCDH1|protein_coding|CODING|ENST00000357517|exon_5_141249082_141249154 . 0/1:99:239,0,255 . . 5 143200053 rs161557 C T NON_SYNONYMOUS_CODING HMHB1 MODERATE|MISSENSE|Cat/Tat|H16Y|41|HMHB1|protein_coding|CODING|ENST00000289448|exon_5_143200045_143200284 0/1:99:255,0,255 0/1:99:255,0,255 . 1/1:99:255,66,0 5 145895558 rs17104742 G A NON_SYNONYMOUS_CODING GPR151 MODERATE|MISSENSE|cCg/cTg|P40L|419|GPR151|protein_coding|CODING|ENST00000311104|exon_5_145892666_145895753 . 0/1:99:255,0,144 . . 5 146658874 rs35852718 A T NON_SYNONYMOUS_CODING STK32A MODERATE|MISSENSE|aAg/aTg|K58M|166|STK32A|protein_coding|CODING|ENST00000398521|exon_5_146658810_146658961 . . . 0/1:99:255,0,255 5 146658874 rs35852718 A T NON_SYNONYMOUS_CODING STK32A MODERATE|MISSENSE|aAg/aTg|K58M|166|STK32A|protein_coding|CODING|ENST00000541094|exon_5_146658810_146658961 . . . 0/1:99:255,0,255 5 146658874 rs35852718 A T NON_SYNONYMOUS_CODING STK32A MODERATE|MISSENSE|aAg/aTg|K58M|396|STK32A|protein_coding|CODING|ENST00000397936|exon_5_146658810_146658961 . . . 0/1:99:255,0,255 5 146658874 rs35852718 A T NON_SYNONYMOUS_CODING STK32A MODERATE|MISSENSE|aAg/aTg|K58M|407|STK32A|protein_coding|CODING|ENST00000398523|exon_5_146658810_146658961 . . . 0/1:99:255,0,255 5 146777371 rs188735247 C T NON_SYNONYMOUS_CODING DPYSL3 MODERATE|MISSENSE|cGc/cAc|R440H|570|DPYSL3|protein_coding|CODING|ENST00000398514|exon_5_146777229_146777408 0/1:99:255,0,255 . . . 5 146777371 rs188735247 C T NON_SYNONYMOUS_CODING DPYSL3 MODERATE|MISSENSE|cGc/cAc|R554H|684|DPYSL3|protein_coding|CODING|ENST00000343218|exon_5_146777229_146777408 0/1:99:255,0,255 . . . 5 146777371 rs188735247 C T NON_SYNONYMOUS_CODING DPYSL3 MODERATE|MISSENSE|cGc/cAc|R66H|196|DPYSL3|protein_coding|CODING|ENST00000534907|exon_5_146777229_146777408 0/1:99:255,0,255 . . . 5 147499891 rs2303070 G T NON_SYNONYMOUS_CODING SPINK5 MODERATE|MISSENSE|gaG/gaT|E806D|868|SPINK5|protein_coding|CODING|ENST00000508733|exon_5_147499858_147499954 0/1:99:231,0,255 0/1:99:246,0,255 . . 5 147499891 rs2303070 G T NON_SYNONYMOUS_CODING SPINK5 MODERATE|MISSENSE|gaG/gaT|E825D|1064|SPINK5|protein_coding|CODING|ENST00000256084|exon_5_147499858_147499954 0/1:99:231,0,255 0/1:99:246,0,255 . . 5 147499891 rs2303070 G T NON_SYNONYMOUS_CODING SPINK5 MODERATE|MISSENSE|gaG/gaT|E825D|1094|SPINK5|protein_coding|CODING|ENST00000359874|exon_5_147499858_147499954 0/1:99:231,0,255 0/1:99:246,0,255 . . 5 147499891 rs2303070 G T NON_SYNONYMOUS_CODING SPINK5 MODERATE|MISSENSE|gaG/gaT|E825D|916|SPINK5|protein_coding|CODING|ENST00000398454|exon_5_147499858_147499954 0/1:99:231,0,255 0/1:99:246,0,255 . . 5 148422274 rs17722293 C T NON_SYNONYMOUS_CODING SH3TC2 MODERATE|MISSENSE|gGa/gAa|G164E|1281|SH3TC2|protein_coding|CODING|ENST00000512049|exon_5_148422257_148422379 . 0/1:99:255,0,244 . . 5 148422274 rs17722293 C T NON_SYNONYMOUS_CODING SH3TC2 MODERATE|MISSENSE|gGa/gAa|G171E|1288|SH3TC2|protein_coding|CODING|ENST00000515425|exon_5_148422257_148422400 . 0/1:99:255,0,244 . . 5 148422274 rs17722293 C T NON_SYNONYMOUS_CODING SH3TC2 MODERATE|MISSENSE|gGa/gAa|G56E|934|SH3TC2|protein_coding|CODING|ENST00000394358|exon_5_148422257_148422400 . 0/1:99:255,0,244 . . 5 149003626 rs113997100 G A NON_SYNONYMOUS_CODING ARHGEF37 MODERATE|MISSENSE|Gca/Aca|A463T|675|ARHGEF37|protein_coding|CODING|ENST00000333677|exon_5_149003575_149003703 . . 0/1:99:255,0,244 . 5 149404179 rs35341726 G T NON_SYNONYMOUS_CODING HMGXB3 MODERATE|MISSENSE|Gta/Tta|V434L|1260|HMGXB3|protein_coding|CODING|ENST00000503427|exon_5_149404068_149404243 . 0/1:99:255,0,255 . 0/1:99:221,0,211 5 149404179 rs35341726 G T NON_SYNONYMOUS_CODING HMGXB3 MODERATE|MISSENSE|Gta/Tta|V466L|1292|HMGXB3|protein_coding|CODING|ENST00000502717|exon_5_149403825_149404243 . 0/1:99:255,0,255 . 0/1:99:221,0,211 5 149449827 rs34951517 C T NON_SYNONYMOUS_CODING CSF1R MODERATE|MISSENSE|Ggc/Agc|G265S|501|CSF1R|protein_coding|CODING|ENST00000394307|exon_5_149449745_149449865 . 0/1:99:249,0,240 . . 5 149449827 rs34951517 C T NON_SYNONYMOUS_CODING CSF1R MODERATE|MISSENSE|Ggc/Agc|G413S|972|CSF1R|protein_coding|CODING|ENST00000286301|exon_5_149449745_149449865 . 0/1:99:249,0,240 . . 5 149755362 rs75583421 G A NON_SYNONYMOUS_CODING TCOF1 MODERATE|MISSENSE|Gta/Ata|V518I|1411|TCOF1|protein_coding|CODING|ENST00000323668|exon_5_149755284_149755472 . 0/1:99:243,0,186 . . 5 149755362 rs75583421 G A NON_SYNONYMOUS_CODING TCOF1 MODERATE|MISSENSE|Gta/Ata|V518I|1412|TCOF1|protein_coding|CODING|ENST00000445265|exon_5_149755284_149755472 . 0/1:99:243,0,186 . . 5 149755362 rs75583421 G A NON_SYNONYMOUS_CODING TCOF1 MODERATE|MISSENSE|Gta/Ata|V595I|1413|TCOF1|protein_coding|CODING|ENST00000427724|exon_5_149755284_149755472 . 0/1:99:243,0,186 . . 5 149755362 rs75583421 G A NON_SYNONYMOUS_CODING TCOF1 MODERATE|MISSENSE|Gta/Ata|V595I|1451|TCOF1|protein_coding|CODING|ENST00000439160|exon_5_149755284_149755472 . 0/1:99:243,0,186 . . 5 149755362 rs75583421 G A NON_SYNONYMOUS_CODING TCOF1 MODERATE|MISSENSE|Gta/Ata|V595I|1488|TCOF1|protein_coding|CODING|ENST00000504761|exon_5_149755284_149755472 . 0/1:99:243,0,186 . . 5 149755362 rs75583421 G A NON_SYNONYMOUS_CODING TCOF1 MODERATE|MISSENSE|Gta/Ata|V595I|1488|TCOF1|protein_coding|CODING|ENST00000513346|exon_5_149755284_149755472 . 0/1:99:243,0,186 . . 5 149755362 rs75583421 G A NON_SYNONYMOUS_CODING TCOF1 MODERATE|MISSENSE|Gta/Ata|V595I|1489|TCOF1|protein_coding|CODING|ENST00000377797|exon_5_149755284_149755472 . 0/1:99:243,0,186 . . 5 149755362 rs75583421 G A NON_SYNONYMOUS_CODING TCOF1 MODERATE|MISSENSE|Gta/Ata|V595I|1525|TCOF1|protein_coding|CODING|ENST00000451292|exon_5_149755284_149755472 . 0/1:99:243,0,186 . . 5 149755362 rs75583421 G A NON_SYNONYMOUS_CODING TCOF1 MODERATE|MISSENSE|Gta/Ata|V595I|958|TCOF1|protein_coding|CODING|ENST00000394269|exon_5_149755284_149755472 . 0/1:99:243,0,186 . . 5 149755744 rs2071240 G C NON_SYNONYMOUS_CODING TCOF1 MODERATE|MISSENSE|Gcc/Ccc|A588P|1411|TCOF1|protein_coding|CODING|ENST00000323668|exon_5_149755645_149755893 . . 0/1:99:253,0,255 . 5 149755744 rs2071240 G C NON_SYNONYMOUS_CODING TCOF1 MODERATE|MISSENSE|Gcc/Ccc|A588P|1412|TCOF1|protein_coding|CODING|ENST00000445265|exon_5_149755645_149755893 . . 0/1:99:253,0,255 . 5 149755744 rs2071240 G C NON_SYNONYMOUS_CODING TCOF1 MODERATE|MISSENSE|Gcc/Ccc|A665P|1413|TCOF1|protein_coding|CODING|ENST00000427724|exon_5_149755645_149755893 . . 0/1:99:253,0,255 . 5 149755744 rs2071240 G C NON_SYNONYMOUS_CODING TCOF1 MODERATE|MISSENSE|Gcc/Ccc|A665P|1451|TCOF1|protein_coding|CODING|ENST00000439160|exon_5_149755645_149755893 . . 0/1:99:253,0,255 . 5 149755744 rs2071240 G C NON_SYNONYMOUS_CODING TCOF1 MODERATE|MISSENSE|Gcc/Ccc|A665P|1488|TCOF1|protein_coding|CODING|ENST00000504761|exon_5_149755645_149755893 . . 0/1:99:253,0,255 . 5 149755744 rs2071240 G C NON_SYNONYMOUS_CODING TCOF1 MODERATE|MISSENSE|Gcc/Ccc|A665P|1488|TCOF1|protein_coding|CODING|ENST00000513346|exon_5_149755645_149755893 . . 0/1:99:253,0,255 . 5 149755744 rs2071240 G C NON_SYNONYMOUS_CODING TCOF1 MODERATE|MISSENSE|Gcc/Ccc|A665P|1489|TCOF1|protein_coding|CODING|ENST00000377797|exon_5_149755645_149755893 . . 0/1:99:253,0,255 . 5 149755744 rs2071240 G C NON_SYNONYMOUS_CODING TCOF1 MODERATE|MISSENSE|Gcc/Ccc|A665P|1525|TCOF1|protein_coding|CODING|ENST00000451292|exon_5_149755645_149755893 . . 0/1:99:253,0,255 . 5 149755744 rs2071240 G C NON_SYNONYMOUS_CODING TCOF1 MODERATE|MISSENSE|Gcc/Ccc|A665P|958|TCOF1|protein_coding|CODING|ENST00000394269|exon_5_149755645_149755893 . . 0/1:99:253,0,255 . 5 149772280 rs1136103 C G NON_SYNONYMOUS_CODING TCOF1 MODERATE|MISSENSE|cCc/cGc|P1099R|1411|TCOF1|protein_coding|CODING|ENST00000323668|exon_5_149772271_149772353 . 0/1:99:255,0,226 0/1:99:213,0,255 . 5 149772280 rs1136103 C G NON_SYNONYMOUS_CODING TCOF1 MODERATE|MISSENSE|cCc/cGc|P1100R|1412|TCOF1|protein_coding|CODING|ENST00000445265|exon_5_149772268_149772353 . 0/1:99:255,0,226 0/1:99:213,0,255 . 5 149772280 rs1136103 C G NON_SYNONYMOUS_CODING TCOF1 MODERATE|MISSENSE|cCc/cGc|P1138R|1413|TCOF1|protein_coding|CODING|ENST00000427724|exon_5_149772271_149772353 . 0/1:99:255,0,226 0/1:99:213,0,255 . 5 149772280 rs1136103 C G NON_SYNONYMOUS_CODING TCOF1 MODERATE|MISSENSE|cCc/cGc|P1139R|1451|TCOF1|protein_coding|CODING|ENST00000439160|exon_5_149772268_149772353 . 0/1:99:255,0,226 0/1:99:213,0,255 . 5 149772280 rs1136103 C G NON_SYNONYMOUS_CODING TCOF1 MODERATE|MISSENSE|cCc/cGc|P1176R|1488|TCOF1|protein_coding|CODING|ENST00000504761|exon_5_149772271_149772353 . 0/1:99:255,0,226 0/1:99:213,0,255 . 5 149772280 rs1136103 C G NON_SYNONYMOUS_CODING TCOF1 MODERATE|MISSENSE|cCc/cGc|P1176R|1488|TCOF1|protein_coding|CODING|ENST00000513346|exon_5_149772268_149772353 . 0/1:99:255,0,226 0/1:99:213,0,255 . 5 149772280 rs1136103 C G NON_SYNONYMOUS_CODING TCOF1 MODERATE|MISSENSE|cCc/cGc|P1177R|1489|TCOF1|protein_coding|CODING|ENST00000377797|exon_5_149772268_149772353 . 0/1:99:255,0,226 0/1:99:213,0,255 . 5 149772280 rs1136103 C G NON_SYNONYMOUS_CODING TCOF1 MODERATE|MISSENSE|cCc/cGc|P1213R|1525|TCOF1|protein_coding|CODING|ENST00000451292|exon_5_149772271_149772353 . 0/1:99:255,0,226 0/1:99:213,0,255 . 5 149919767 . G C NON_SYNONYMOUS_CODING NDST1 MODERATE|MISSENSE|Gtg/Ctg|V564L|825|NDST1|protein_coding|CODING|ENST00000523767|exon_5_149919644_149919826 0/1:99:246,0,255 . . . 5 149919767 . G C NON_SYNONYMOUS_CODING NDST1 MODERATE|MISSENSE|Gtg/Ctg|V564L|882|NDST1|protein_coding|CODING|ENST00000261797|exon_5_149919644_149919826 0/1:99:246,0,255 . . . 5 150436503 rs2233290 G C NON_SYNONYMOUS_CODING TNIP1 MODERATE|MISSENSE|Ccc/Gcc|P108A|502|TNIP1|protein_coding|CODING|ENST00000545840|exon_5_150436327_150436518 . 0/1:99:255,0,110 . 0/1:99:238,0,158 5 150436503 rs2233290 G C NON_SYNONYMOUS_CODING TNIP1 MODERATE|MISSENSE|Ccc/Gcc|P108A|513|TNIP1|protein_coding|CODING|ENST00000544828|exon_5_150436327_150436518 . 0/1:99:255,0,110 . 0/1:99:238,0,158 5 150436503 rs2233290 G C NON_SYNONYMOUS_CODING TNIP1 MODERATE|MISSENSE|Ccc/Gcc|P108A|529|TNIP1|protein_coding|CODING|ENST00000417127|exon_5_150436327_150436518 . 0/1:99:255,0,110 . 0/1:99:238,0,158 5 150436503 rs2233290 G C NON_SYNONYMOUS_CODING TNIP1 MODERATE|MISSENSE|Ccc/Gcc|P113A|598|TNIP1|protein_coding|CODING|ENST00000539213|exon_5_150436327_150436518 . 0/1:99:255,0,110 . 0/1:99:238,0,158 5 150436503 rs2233290 G C NON_SYNONYMOUS_CODING TNIP1 MODERATE|MISSENSE|Ccc/Gcc|P151A|556|TNIP1|protein_coding|CODING|ENST00000524280|exon_5_150436327_150436518 . 0/1:99:255,0,110 . 0/1:99:238,0,158 5 150436503 rs2233290 G C NON_SYNONYMOUS_CODING TNIP1 MODERATE|MISSENSE|Ccc/Gcc|P151A|572|TNIP1|protein_coding|CODING|ENST00000523200|exon_5_150436327_150436518 . 0/1:99:255,0,110 . 0/1:99:238,0,158 5 150436503 rs2233290 G C NON_SYNONYMOUS_CODING TNIP1 MODERATE|MISSENSE|Ccc/Gcc|P151A|635|TNIP1|protein_coding|CODING|ENST00000518977|exon_5_150436327_150436518 . 0/1:99:255,0,110 . 0/1:99:238,0,158 5 150436503 rs2233290 G C NON_SYNONYMOUS_CODING TNIP1 MODERATE|MISSENSE|Ccc/Gcc|P151A|635|TNIP1|protein_coding|CODING|ENST00000523338|exon_5_150436327_150436518 . 0/1:99:255,0,110 . 0/1:99:238,0,158 5 150436503 rs2233290 G C NON_SYNONYMOUS_CODING TNIP1 MODERATE|MISSENSE|Ccc/Gcc|P151A|636|TNIP1|protein_coding|CODING|ENST00000315050|exon_5_150436327_150436518 . 0/1:99:255,0,110 . 0/1:99:238,0,158 5 150436503 rs2233290 G C NON_SYNONYMOUS_CODING TNIP1 MODERATE|MISSENSE|Ccc/Gcc|P151A|636|TNIP1|protein_coding|CODING|ENST00000389378|exon_5_150436327_150436518 . 0/1:99:255,0,110 . 0/1:99:238,0,158 5 150436503 rs2233290 G C NON_SYNONYMOUS_CODING TNIP1 MODERATE|MISSENSE|Ccc/Gcc|P151A|636|TNIP1|protein_coding|CODING|ENST00000521591|exon_5_150436327_150436518 . 0/1:99:255,0,110 . 0/1:99:238,0,158 5 150436503 rs2233290 G C NON_SYNONYMOUS_CODING TNIP1 MODERATE|MISSENSE|Ccc/Gcc|P151A|636|TNIP1|protein_coding|CODING|ENST00000522226|exon_5_150436327_150436518 . 0/1:99:255,0,110 . 0/1:99:238,0,158 5 150436503 rs2233290 G C NON_SYNONYMOUS_CODING TNIP1 MODERATE|MISSENSE|Ccc/Gcc|P98A|256|TNIP1|protein_coding|CODING|ENST00000522100|exon_5_150436327_150436518 . 0/1:99:255,0,110 . 0/1:99:238,0,158 5 150436503 rs2233290 G C NON_SYNONYMOUS_CODING TNIP1 MODERATE|MISSENSE|Ccc/Gcc|P98A|583|TNIP1|protein_coding|CODING|ENST00000520931|exon_5_150436327_150436518 . 0/1:99:255,0,110 . 0/1:99:238,0,158 5 150516854 . A G NON_SYNONYMOUS_CODING ANXA6 MODERATE|MISSENSE|aTt/aCt|I116T|667|ANXA6|protein_coding|CODING|ENST00000356496|exon_5_150516792_150516882 . . 0/1:99:255,0,255 . 5 150516854 . A G NON_SYNONYMOUS_CODING ANXA6 MODERATE|MISSENSE|aTt/aCt|I116T|673|ANXA6|protein_coding|CODING|ENST00000354546|exon_5_150516792_150516882 . . 0/1:99:255,0,255 . 5 150516854 . A G NON_SYNONYMOUS_CODING ANXA6 MODERATE|MISSENSE|aTt/aCt|I84T|128|ANXA6|protein_coding|CODING|ENST00000517757|exon_5_150516792_150516882 . . 0/1:99:255,0,255 . 5 150516854 . A G NON_SYNONYMOUS_CODING ANXA6 MODERATE|MISSENSE|aTt/aCt|I84T|149|ANXA6|protein_coding|CODING|ENST00000521749|exon_5_150516792_150516882 . . 0/1:99:255,0,255 . 5 150516854 . A G NON_SYNONYMOUS_CODING ANXA6 MODERATE|MISSENSE|aTt/aCt|I84T|641|ANXA6|protein_coding|CODING|ENST00000523714|exon_5_150516792_150516882 . . 0/1:99:255,0,255 . 5 150632832 rs1048719 G A NON_SYNONYMOUS_CODING GM2A MODERATE|MISSENSE|Gcc/Acc|A19T|193|GM2A|protein_coding|CODING|ENST00000357164|exon_5_150632453_150632858 . . 0/1:99:148,0,124 . 5 150667016 rs978012 T C NON_SYNONYMOUS_CODING SLC36A3 MODERATE|MISSENSE|Aaa/Gaa|K167E|470|SLC36A3|protein_coding|CODING|ENST00000335230|exon_5_150666807_150667025 0/1:99:255,0,255 0/1:99:255,0,253 . . 5 150667016 rs978012 T C NON_SYNONYMOUS_CODING SLC36A3 MODERATE|MISSENSE|Aaa/Gaa|K208E|511|SLC36A3|protein_coding|CODING|ENST00000377713|exon_5_150666807_150667025 0/1:99:255,0,255 0/1:99:255,0,253 . . 5 150924962 rs142001888 G A NON_SYNONYMOUS_CODING FAT2 MODERATE|MISSENSE|aCt/aTt|T1909I|4349|FAT2|protein_coding|CODING|ENST00000261800|exon_5_150921846_150925898 . . 0/1:99:255,0,255 . 5 150943061 rs138913417 G T NON_SYNONYMOUS_CODING FAT2 MODERATE|MISSENSE|aaC/aaA|N1133K|4349|FAT2|protein_coding|CODING|ENST00000261800|exon_5_150942886_150943200 . . . 0/1:99:255,0,231 5 150945465 rs149215962 G A NON_SYNONYMOUS_CODING FAT2 MODERATE|MISSENSE|Cgc/Tgc|R1010C|4349|FAT2|protein_coding|CODING|ENST00000261800|exon_5_150945234_150948505 . . . 0/1:99:213,0,255 5 151771838 rs4958531 T C NON_SYNONYMOUS_CODING NMUR2 MODERATE|MISSENSE|Atg/Gtg|M388V|415|NMUR2|protein_coding|CODING|ENST00000255262|exon_5_151771093_151772062 0/1:99:240,0,255 . 0/1:99:188,0,255 . 5 151771852 rs4958532 G A NON_SYNONYMOUS_CODING NMUR2 MODERATE|MISSENSE|cCa/cTa|P383L|415|NMUR2|protein_coding|CODING|ENST00000255262|exon_5_151771093_151772062 0/1:99:234,0,255 . 0/1:99:240,0,255 . 5 151771874 rs61735377 C T NON_SYNONYMOUS_CODING NMUR2 MODERATE|MISSENSE|Gaa/Aaa|E376K|415|NMUR2|protein_coding|CODING|ENST00000255262|exon_5_151771093_151772062 . . . 0/1:99:255,0,213 5 151772055 rs1895245 G T NON_SYNONYMOUS_CODING NMUR2 MODERATE|MISSENSE|ttC/ttA|F315L|415|NMUR2|protein_coding|CODING|ENST00000255262|exon_5_151771093_151772062 0/1:99:255,0,249 . 0/1:99:216,0,255 . 5 151775064 rs4958535 C G NON_SYNONYMOUS_CODING NMUR2 MODERATE|MISSENSE|aGt/aCt|S298T|415|NMUR2|protein_coding|CODING|ENST00000255262|exon_5_151775020_151775145 0/1:99:255,0,175 . 0/1:99:255,0,255 . 5 154135484 . C T NON_SYNONYMOUS_CODING LARP1 MODERATE|MISSENSE|cCc/cTc|P56L|814|LARP1|protein_coding|CODING|ENST00000518297|exon_5_154135135_154135753 . . . 0/1:99:170,0,110 5 156589585 rs31208 A G NON_SYNONYMOUS_CODING FAM71B MODERATE|MISSENSE|aTg/aCg|M564T|605|FAM71B|protein_coding|CODING|ENST00000302938|exon_5_156588857_156590669 0/1:99:229,0,255 . 0/1:99:221,0,255 . 5 156590155 rs140209435 G A NON_SYNONYMOUS_CODING FAM71B MODERATE|MISSENSE|gCg/gTg|A374V|605|FAM71B|protein_coding|CODING|ENST00000302938|exon_5_156588857_156590669 . . . 0/1:99:213,0,174 5 156899925 rs61743233 C T NON_SYNONYMOUS_CODING NIPAL4 MODERATE|MISSENSE|tCa/tTa|S434L|447|NIPAL4|protein_coding|CODING|ENST00000435489|exon_5_156899340_156900108 0/1:99:243,0,144 . . . 5 156899925 rs61743233 C T NON_SYNONYMOUS_CODING NIPAL4 MODERATE|MISSENSE|tCa/tTa|S453L|466|NIPAL4|protein_coding|CODING|ENST00000311946|exon_5_156899340_156901725 0/1:99:243,0,144 . . . 5 159820931 rs10515808 C A NON_SYNONYMOUS_CODING C5orf54 MODERATE|MISSENSE|Gca/Tca|A523S|594|C5orf54|protein_coding|CODING|ENST00000408953|exon_5_159820155_159822546 . . 0/1:99:255,0,255 . 5 159820931 rs10515808 C A NON_SYNONYMOUS_CODING C5orf54 MODERATE|MISSENSE|Gca/Tca|A523S|594|C5orf54|protein_coding|CODING|ENST00000523213|exon_5_159820535_159822546 . . 0/1:99:255,0,255 . 5 160763735 . C T NON_SYNONYMOUS_CODING GABRB2 MODERATE|MISSENSE|Gat/Aat|D132N|411|GABRB2|protein_coding|CODING|ENST00000517901|exon_5_160763639_160763776 0/1:99:176,0,255 . . . 5 160763735 . C T NON_SYNONYMOUS_CODING GABRB2 MODERATE|MISSENSE|Gat/Aat|D195N|474|GABRB2|protein_coding|CODING|ENST00000353437|exon_5_160763639_160763776 0/1:99:176,0,255 . . . 5 160763735 . C T NON_SYNONYMOUS_CODING GABRB2 MODERATE|MISSENSE|Gat/Aat|D195N|474|GABRB2|protein_coding|CODING|ENST00000520240|exon_5_160763639_160763776 0/1:99:176,0,255 . . . 5 160763735 . C T NON_SYNONYMOUS_CODING GABRB2 MODERATE|MISSENSE|Gat/Aat|D195N|512|GABRB2|protein_coding|CODING|ENST00000274547|exon_5_160763639_160763776 0/1:99:176,0,255 . . . 5 160763735 . C T NON_SYNONYMOUS_CODING GABRB2 MODERATE|MISSENSE|Gat/Aat|D195N|512|GABRB2|protein_coding|CODING|ENST00000393959|exon_5_160763639_160763776 0/1:99:176,0,255 . . . 5 160763735 . C T NON_SYNONYMOUS_CODING GABRB2 MODERATE|MISSENSE|Gat/Aat|D35N|314|GABRB2|protein_coding|CODING|ENST00000517547|exon_5_160763639_160763776 0/1:99:176,0,255 . . . 5 167489170 rs72824990 A G NON_SYNONYMOUS_CODING ODZ2 MODERATE|MISSENSE|cAc/cGc|H240R|2535|ODZ2|protein_coding|CODING|ENST00000520394|exon_5_167489065_167489270 . . 0/1:99:255,0,230 . 5 167489170 rs72824990 A G NON_SYNONYMOUS_CODING ODZ2 MODERATE|MISSENSE|cAc/cGc|H305R|2598|ODZ2|protein_coding|CODING|ENST00000403607|exon_5_167489065_167489270 . . 0/1:99:255,0,230 . 5 167489170 rs72824990 A G NON_SYNONYMOUS_CODING ODZ2 MODERATE|MISSENSE|cAc/cGc|H351R|2653|ODZ2|protein_coding|CODING|ENST00000519204|exon_5_167489065_167489270 . . 0/1:99:255,0,230 . 5 167489170 rs72824990 A G NON_SYNONYMOUS_CODING ODZ2 MODERATE|MISSENSE|cAc/cGc|H472R|2773|ODZ2|protein_coding|CODING|ENST00000545108|exon_5_167489065_167489270 . . 0/1:99:255,0,230 . 5 167489170 rs72824990 A G NON_SYNONYMOUS_CODING ODZ2 MODERATE|MISSENSE|cAc/cGc|H472R|2774|ODZ2|protein_coding|CODING|ENST00000518659|exon_5_167489065_167489270 . . 0/1:99:255,0,230 . 5 167855044 rs61730019 A G NON_SYNONYMOUS_CODING WWC1 MODERATE|MISSENSE|aAt/aGt|N606S|1113|WWC1|protein_coding|CODING|ENST00000265293|exon_5_167855038_167855146 . . 0/1:99:242,0,235 . 5 167855044 rs61730019 A G NON_SYNONYMOUS_CODING WWC1 MODERATE|MISSENSE|aAt/aGt|N606S|1119|WWC1|protein_coding|CODING|ENST00000521089|exon_5_167855038_167855146 . . 0/1:99:242,0,235 . 5 167858371 rs3822660 G T NON_SYNONYMOUS_CODING WWC1 MODERATE|MISSENSE|atG/atT|M60I|444|WWC1|protein_coding|CODING|ENST00000524038|exon_5_167858257_167858449 0/1:99:134,0,195 . . . 5 167858371 rs3822660 G T NON_SYNONYMOUS_CODING WWC1 MODERATE|MISSENSE|atG/atT|M734I|1113|WWC1|protein_coding|CODING|ENST00000265293|exon_5_167858257_167858449 0/1:99:134,0,195 . . . 5 167858371 rs3822660 G T NON_SYNONYMOUS_CODING WWC1 MODERATE|MISSENSE|atG/atT|M734I|1119|WWC1|protein_coding|CODING|ENST00000521089|exon_5_167858257_167858449 0/1:99:134,0,195 . . . 5 167858372 rs3822659 T G NON_SYNONYMOUS_CODING WWC1 MODERATE|MISSENSE|Tcc/Gcc|S61A|444|WWC1|protein_coding|CODING|ENST00000524038|exon_5_167858257_167858449 0/1:99:128,0,207 . . . 5 167858372 rs3822659 T G NON_SYNONYMOUS_CODING WWC1 MODERATE|MISSENSE|Tcc/Gcc|S735A|1113|WWC1|protein_coding|CODING|ENST00000265293|exon_5_167858257_167858449 0/1:99:128,0,207 . . . 5 167858372 rs3822659 T G NON_SYNONYMOUS_CODING WWC1 MODERATE|MISSENSE|Tcc/Gcc|S735A|1119|WWC1|protein_coding|CODING|ENST00000521089|exon_5_167858257_167858449 0/1:99:128,0,207 . . . 5 169028316 rs78480498 C A NON_SYNONYMOUS_CODING CCDC99 MODERATE|MISSENSE|Cgt/Agt|R354S|506|CCDC99|protein_coding|CODING|ENST00000274631|exon_5_169028284_169028629 . . . 0/1:99:232,0,253 5 169028316 rs78480498 C A NON_SYNONYMOUS_CODING CCDC99 MODERATE|MISSENSE|Cgt/Agt|R453S|605|CCDC99|protein_coding|CODING|ENST00000265295|exon_5_169028284_169028629 . . . 0/1:99:232,0,253 5 169028382 rs140080951 G A NON_SYNONYMOUS_CODING CCDC99 MODERATE|MISSENSE|Gga/Aga|G376R|506|CCDC99|protein_coding|CODING|ENST00000274631|exon_5_169028284_169028629 . . . 0/1:99:255,0,191 5 169028382 rs140080951 G A NON_SYNONYMOUS_CODING CCDC99 MODERATE|MISSENSE|Gga/Aga|G475R|605|CCDC99|protein_coding|CODING|ENST00000265295|exon_5_169028284_169028629 . . . 0/1:99:255,0,191 5 169230085 rs201511979 G A NON_SYNONYMOUS_CODING DOCK2 MODERATE|MISSENSE|Gtc/Atc|V241I|336|DOCK2|protein_coding|CODING|ENST00000343291|exon_5_169230062_169230210 0/1:99:255,0,255 . . . 5 169230085 rs201511979 G A NON_SYNONYMOUS_CODING DOCK2 MODERATE|MISSENSE|Gtc/Atc|V352I|1322|DOCK2|protein_coding|CODING|ENST00000520908|exon_5_169230062_169230210 0/1:99:255,0,255 . . . 5 169230085 rs201511979 G A NON_SYNONYMOUS_CODING DOCK2 MODERATE|MISSENSE|Gtc/Atc|V64I|161|DOCK2|protein_coding|CODING|ENST00000519628|exon_5_169230062_169230210 0/1:99:255,0,255 . . . 5 169230085 rs201511979 G A NON_SYNONYMOUS_CODING DOCK2 MODERATE|MISSENSE|Gtc/Atc|V860I|1830|DOCK2|protein_coding|CODING|ENST00000256935|exon_5_169230062_169230210 0/1:99:255,0,255 . . . 5 169509815 rs144315682 G T NON_SYNONYMOUS_CODING DOCK2 MODERATE|MISSENSE|Gct/Tct|A1308S|1322|DOCK2|protein_coding|CODING|ENST00000520908|exon_5_169509800_169510383 . 0/1:99:255,0,255 . . 5 169509815 rs144315682 G T NON_SYNONYMOUS_CODING DOCK2 MODERATE|MISSENSE|Gct/Tct|A1816S|1830|DOCK2|protein_coding|CODING|ENST00000256935|exon_5_169509800_169510386 . 0/1:99:255,0,255 . . 5 169509815 rs144315682 G T NON_SYNONYMOUS_CODING DOCK2 MODERATE|MISSENSE|Gct/Tct|A877S|891|DOCK2|protein_coding|CODING|ENST00000540750|exon_5_169509800_169510381 . 0/1:99:255,0,255 . . 5 173426709 rs56138314 G T NON_SYNONYMOUS_CODING C5orf47 MODERATE|MISSENSE|Gta/Tta|V140L|176|C5orf47|protein_coding|CODING|ENST00000340147|exon_5_173426703_173426802 . . 0/1:99:255,0,255 . 5 175533585 rs199655223 C T NON_SYNONYMOUS_CODING FAM153B MODERATE|MISSENSE|cCg/cTg|P208L|310|FAM153B|protein_coding|CODING|ENST00000510151|exon_5_175533563_175533593 0/1:67:64,0,154 . 0/1:54:51,0,192 0/1:60:57,0,199 5 175533585 rs199655223 C T NON_SYNONYMOUS_CODING FAM153B MODERATE|MISSENSE|cCg/cTg|P208L|310|FAM153B|protein_coding|CODING|ENST00000515817|exon_5_175533563_175533593 0/1:67:64,0,154 . 0/1:54:51,0,192 0/1:60:57,0,199 5 175533585 rs199655223 C T NON_SYNONYMOUS_CODING FAM153B MODERATE|MISSENSE|cCg/cTg|P285L|387|FAM153B|protein_coding|CODING|ENST00000253490|exon_5_175533563_175533593 0/1:67:64,0,154 . 0/1:54:51,0,192 0/1:60:57,0,199 5 175533585 rs199655223 C T NON_SYNONYMOUS_CODING FAM153B MODERATE|MISSENSE|cCg/cTg|P76L|144|FAM153B|protein_coding|CODING|ENST00000512862|exon_5_175533563_175533593 0/1:67:64,0,154 . 0/1:54:51,0,192 0/1:60:57,0,199 5 175717216 rs72645798 C T NON_SYNONYMOUS_CODING C5orf25 MODERATE|MISSENSE|cCg/cTg|P122L|325|C5orf25|protein_coding|CODING|ENST00000377277|exon_5_175716852_175717719 0/1:99:201,0,166 0/1:99:175,0,153 . 0/1:99:255,0,180 5 175717216 rs72645798 C T NON_SYNONYMOUS_CODING C5orf25 MODERATE|MISSENSE|cCg/cTg|P211L|872|C5orf25|protein_coding|CODING|ENST00000443967|exon_5_175716657_175717958 0/1:99:201,0,166 0/1:99:175,0,153 . 0/1:99:255,0,180 5 175717216 rs72645798 C T NON_SYNONYMOUS_CODING C5orf25 MODERATE|MISSENSE|cCg/cTg|P230L|611|C5orf25|protein_coding|CODING|ENST00000429602|exon_5_175716657_175717958 0/1:99:201,0,166 0/1:99:175,0,153 . 0/1:99:255,0,180 5 176008539 rs72809131 G A NON_SYNONYMOUS_CODING CDHR2 MODERATE|MISSENSE|Gag/Aag|E672K|1310|CDHR2|protein_coding|CODING|ENST00000261944|exon_5_176008344_176008583 . 0/1:99:255,0,242 . . 5 176008539 rs72809131 G A NON_SYNONYMOUS_CODING CDHR2 MODERATE|MISSENSE|Gag/Aag|E672K|1310|CDHR2|protein_coding|CODING|ENST00000506348|exon_5_176008344_176008583 . 0/1:99:255,0,242 . . 5 176008539 rs72809131 G A NON_SYNONYMOUS_CODING CDHR2 MODERATE|MISSENSE|Gag/Aag|E672K|1310|CDHR2|protein_coding|CODING|ENST00000510636|exon_5_176008344_176008583 . 0/1:99:255,0,242 . . 5 176079877 rs17624798 T C NON_SYNONYMOUS_CODING TSPAN17 MODERATE|MISSENSE|aTt/aCt|I117T|309|TSPAN17|protein_coding|CODING|ENST00000503045|exon_5_176079813_176079914 . 0/1:99:255,0,254 . . 5 176079877 rs17624798 T C NON_SYNONYMOUS_CODING TSPAN17 MODERATE|MISSENSE|aTt/aCt|I128T|256|TSPAN17|protein_coding|CODING|ENST00000504168|exon_5_176079780_176079914 . 0/1:99:255,0,254 . . 5 176079877 rs17624798 T C NON_SYNONYMOUS_CODING TSPAN17 MODERATE|MISSENSE|aTt/aCt|I140T|263|TSPAN17|protein_coding|CODING|ENST00000515708|exon_5_176079744_176079914 . 0/1:99:255,0,254 . . 5 176079877 rs17624798 T C NON_SYNONYMOUS_CODING TSPAN17 MODERATE|MISSENSE|aTt/aCt|I140T|266|TSPAN17|protein_coding|CODING|ENST00000405525|exon_5_176079744_176079914 . 0/1:99:255,0,254 . . 5 176079877 rs17624798 T C NON_SYNONYMOUS_CODING TSPAN17 MODERATE|MISSENSE|aTt/aCt|I140T|329|TSPAN17|protein_coding|CODING|ENST00000508164|exon_5_176079744_176079914 . 0/1:99:255,0,254 . . 5 176079877 rs17624798 T C NON_SYNONYMOUS_CODING TSPAN17 MODERATE|MISSENSE|aTt/aCt|I140T|332|TSPAN17|protein_coding|CODING|ENST00000310032|exon_5_176079744_176079914 . 0/1:99:255,0,254 . . 5 176079877 rs17624798 T C NON_SYNONYMOUS_CODING TSPAN17 MODERATE|MISSENSE|aTt/aCt|I74T|188|TSPAN17|protein_coding|CODING|ENST00000298564|exon_5_176079744_176079914 . 0/1:99:255,0,254 . . 5 176317857 . A G NON_SYNONYMOUS_CODING HK3 MODERATE|MISSENSE|tTc/tCc|F167S|923|HK3|protein_coding|CODING|ENST00000292432|exon_5_176317823_176317942 0/1:99:255,0,173 . . . 5 176520243 rs351855 G A NON_SYNONYMOUS_CODING FGFR4 MODERATE|MISSENSE|Ggg/Agg|G388R|802|FGFR4|protein_coding|CODING|ENST00000292408|exon_5_176520139_176520332 0/1:93:90,0,194 0/1:99:158,0,255 1/1:81:255,42,0 . 5 176520243 rs351855 G A NON_SYNONYMOUS_CODING FGFR4 MODERATE|MISSENSE|Ggg/Agg|G388R|802|FGFR4|protein_coding|CODING|ENST00000502906|exon_5_176520139_176520332 0/1:93:90,0,194 0/1:99:158,0,255 1/1:81:255,42,0 . 5 176520243 rs351855 G A NON_SYNONYMOUS_CODING FGFR4 MODERATE|MISSENSE|Ggg/Agg|G616R|1030|FGFR4|protein_coding|CODING|ENST00000377207|exon_5_176520069_176520332 0/1:93:90,0,194 0/1:99:158,0,255 1/1:81:255,42,0 . 5 176562124 . T C NON_SYNONYMOUS_CODING NSD1 MODERATE|MISSENSE|cTa/cCa|L7P|2593|NSD1|protein_coding|CODING|ENST00000361032|exon_5_176562105_176563031 . . . 0/1:99:157,0,255 5 176562124 . T C NON_SYNONYMOUS_CODING NSD1 MODERATE|MISSENSE|cTa/cCa|L7P|2696|NSD1|protein_coding|CODING|ENST00000439151|exon_5_176562088_176563031 . . . 0/1:99:157,0,255 5 176637240 rs3733875 G T NON_SYNONYMOUS_CODING NSD1 MODERATE|MISSENSE|Gtg/Ttg|V345L|2427|NSD1|protein_coding|CODING|ENST00000347982|exon_5_176636637_176639196 . 0/1:99:255,0,255 1/1:99:255,78,0 . 5 176637240 rs3733875 G T NON_SYNONYMOUS_CODING NSD1 MODERATE|MISSENSE|Gtg/Ttg|V345L|2427|NSD1|protein_coding|CODING|ENST00000354179|exon_5_176636637_176639196 . 0/1:99:255,0,255 1/1:99:255,78,0 . 5 176637240 rs3733875 G T NON_SYNONYMOUS_CODING NSD1 MODERATE|MISSENSE|Gtg/Ttg|V345L|562|NSD1|protein_coding|CODING|ENST00000355783|exon_5_176636637_176637888 . 0/1:99:255,0,255 1/1:99:255,78,0 . 5 176637240 rs3733875 G T NON_SYNONYMOUS_CODING NSD1 MODERATE|MISSENSE|Gtg/Ttg|V511L|2593|NSD1|protein_coding|CODING|ENST00000361032|exon_5_176636637_176639196 . 0/1:99:255,0,255 1/1:99:255,78,0 . 5 176637240 rs3733875 G T NON_SYNONYMOUS_CODING NSD1 MODERATE|MISSENSE|Gtg/Ttg|V614L|2696|NSD1|protein_coding|CODING|ENST00000439151|exon_5_176636637_176639196 . 0/1:99:255,0,255 1/1:99:255,78,0 . 5 176637576 rs28932178 T C NON_SYNONYMOUS_CODING NSD1 MODERATE|MISSENSE|Tct/Cct|S457P|2427|NSD1|protein_coding|CODING|ENST00000347982|exon_5_176636637_176639196 . 0/1:99:166,0,243 1/1:99:255,93,0 . 5 176637576 rs28932178 T C NON_SYNONYMOUS_CODING NSD1 MODERATE|MISSENSE|Tct/Cct|S457P|2427|NSD1|protein_coding|CODING|ENST00000354179|exon_5_176636637_176639196 . 0/1:99:166,0,243 1/1:99:255,93,0 . 5 176637576 rs28932178 T C NON_SYNONYMOUS_CODING NSD1 MODERATE|MISSENSE|Tct/Cct|S457P|562|NSD1|protein_coding|CODING|ENST00000355783|exon_5_176636637_176637888 . 0/1:99:166,0,243 1/1:99:255,93,0 . 5 176637576 rs28932178 T C NON_SYNONYMOUS_CODING NSD1 MODERATE|MISSENSE|Tct/Cct|S623P|2593|NSD1|protein_coding|CODING|ENST00000361032|exon_5_176636637_176639196 . 0/1:99:166,0,243 1/1:99:255,93,0 . 5 176637576 rs28932178 T C NON_SYNONYMOUS_CODING NSD1 MODERATE|MISSENSE|Tct/Cct|S726P|2696|NSD1|protein_coding|CODING|ENST00000439151|exon_5_176636637_176639196 . 0/1:99:166,0,243 1/1:99:255,93,0 . 5 176721119 rs35848863 G A NON_SYNONYMOUS_CODING NSD1 MODERATE|MISSENSE|atG/atA|M1981I|2427|NSD1|protein_coding|CODING|ENST00000347982|exon_5_176720833_176722763 0/1:99:255,0,255 . . . 5 176721119 rs35848863 G A NON_SYNONYMOUS_CODING NSD1 MODERATE|MISSENSE|atG/atA|M1981I|2427|NSD1|protein_coding|CODING|ENST00000354179|exon_5_176720833_176727211 0/1:99:255,0,255 . . . 5 176721119 rs35848863 G A NON_SYNONYMOUS_CODING NSD1 MODERATE|MISSENSE|atG/atA|M2147I|2593|NSD1|protein_coding|CODING|ENST00000361032|exon_5_176720833_176727211 0/1:99:255,0,255 . . . 5 176721119 rs35848863 G A NON_SYNONYMOUS_CODING NSD1 MODERATE|MISSENSE|atG/atA|M2250I|2696|NSD1|protein_coding|CODING|ENST00000439151|exon_5_176720833_176727216 0/1:99:255,0,255 . . . 5 176721151 rs34165241 T C NON_SYNONYMOUS_CODING NSD1 MODERATE|MISSENSE|aTg/aCg|M1992T|2427|NSD1|protein_coding|CODING|ENST00000347982|exon_5_176720833_176722763 0/1:99:255,0,255 . . . 5 176721151 rs34165241 T C NON_SYNONYMOUS_CODING NSD1 MODERATE|MISSENSE|aTg/aCg|M1992T|2427|NSD1|protein_coding|CODING|ENST00000354179|exon_5_176720833_176727211 0/1:99:255,0,255 . . . 5 176721151 rs34165241 T C NON_SYNONYMOUS_CODING NSD1 MODERATE|MISSENSE|aTg/aCg|M2158T|2593|NSD1|protein_coding|CODING|ENST00000361032|exon_5_176720833_176727211 0/1:99:255,0,255 . . . 5 176721151 rs34165241 T C NON_SYNONYMOUS_CODING NSD1 MODERATE|MISSENSE|aTg/aCg|M2261T|2696|NSD1|protein_coding|CODING|ENST00000439151|exon_5_176720833_176727216 0/1:99:255,0,255 . . . 5 176722005 rs78247455 G A NON_SYNONYMOUS_CODING NSD1 MODERATE|MISSENSE|Gcc/Acc|A2277T|2427|NSD1|protein_coding|CODING|ENST00000347982|exon_5_176720833_176722763 0/1:99:255,0,231 . . . 5 176722005 rs78247455 G A NON_SYNONYMOUS_CODING NSD1 MODERATE|MISSENSE|Gcc/Acc|A2277T|2427|NSD1|protein_coding|CODING|ENST00000354179|exon_5_176720833_176727211 0/1:99:255,0,231 . . . 5 176722005 rs78247455 G A NON_SYNONYMOUS_CODING NSD1 MODERATE|MISSENSE|Gcc/Acc|A2443T|2593|NSD1|protein_coding|CODING|ENST00000361032|exon_5_176720833_176727211 0/1:99:255,0,231 . . . 5 176722005 rs78247455 G A NON_SYNONYMOUS_CODING NSD1 MODERATE|MISSENSE|Gcc/Acc|A2546T|2696|NSD1|protein_coding|CODING|ENST00000439151|exon_5_176720833_176727216 0/1:99:255,0,231 . . . 5 176764712 . T C NON_SYNONYMOUS_CODING LMAN2 MODERATE|MISSENSE|Act/Gct|T163A|287|LMAN2|protein_coding|CODING|ENST00000502560|exon_5_176764707_176764765 . . 0/1:99:255,0,201 . 5 176764712 . T C NON_SYNONYMOUS_CODING LMAN2 MODERATE|MISSENSE|Act/Gct|T170A|202|LMAN2|protein_coding|CODING|ENST00000514458|exon_5_176764707_176764786 . . 0/1:99:255,0,201 . 5 176764712 . T C NON_SYNONYMOUS_CODING LMAN2 MODERATE|MISSENSE|Act/Gct|T170A|325|LMAN2|protein_coding|CODING|ENST00000515209|exon_5_176764707_176764786 . . 0/1:99:255,0,201 . 5 176764712 . T C NON_SYNONYMOUS_CODING LMAN2 MODERATE|MISSENSE|Act/Gct|T170A|356|LMAN2|protein_coding|CODING|ENST00000303127|exon_5_176764707_176764786 . . 0/1:99:255,0,201 . 5 176764712 . T C NON_SYNONYMOUS_CODING LMAN2 MODERATE|MISSENSE|Act/Gct|T99A|190|LMAN2|protein_coding|CODING|ENST00000513877|exon_5_176764707_176764786 . . 0/1:99:255,0,201 . 5 176764712 . T C NON_SYNONYMOUS_CODING LMAN2 MODERATE|MISSENSE|Act/Gct|T99A|285|LMAN2|protein_coding|CODING|ENST00000539488|exon_5_176764707_176764786 . . 0/1:99:255,0,201 . 5 176884877 rs337423 G A NON_SYNONYMOUS_CODING DBN1 MODERATE|MISSENSE|cCt/cTt|P385L|391|DBN1|protein_coding|CODING|ENST00000512501|exon_5_176884368_176885708 0/1:99:136,0,135 . . . 5 178293311 rs146919084 T C NON_SYNONYMOUS_CODING ZNF354B MODERATE|MISSENSE|Tct/Cct|S34P|133|ZNF354B|protein_coding|CODING|ENST00000520377|exon_5_178293245_178293371 . . 0/1:99:255,0,226 . 5 178293311 rs146919084 T C NON_SYNONYMOUS_CODING ZNF354B MODERATE|MISSENSE|Tct/Cct|S34P|612|ZNF354B|protein_coding|CODING|ENST00000322434|exon_5_178293245_178293371 . . 0/1:99:255,0,226 . 5 178359675 . C A NON_SYNONYMOUS_CODING ZFP2 MODERATE|MISSENSE|aCa/aAa|T454K|461|ZFP2|protein_coding|CODING|ENST00000361362|exon_5_178358238_178360213 . . 0/1:99:246,0,255 . 5 178359675 . C A NON_SYNONYMOUS_CODING ZFP2 MODERATE|MISSENSE|aCa/aAa|T454K|461|ZFP2|protein_coding|CODING|ENST00000503510|exon_5_178358238_178360054 . . 0/1:99:246,0,255 . 5 178359675 . C A NON_SYNONYMOUS_CODING ZFP2 MODERATE|MISSENSE|aCa/aAa|T454K|461|ZFP2|protein_coding|CODING|ENST00000520301|exon_5_178358238_178360054 . . 0/1:99:246,0,255 . 5 178359675 . C A NON_SYNONYMOUS_CODING ZFP2 MODERATE|MISSENSE|aCa/aAa|T454K|461|ZFP2|protein_coding|CODING|ENST00000523286|exon_5_178358238_178360054 . . 0/1:99:246,0,255 . 5 178413492 rs142780395 G A NON_SYNONYMOUS_CODING GRM6 MODERATE|MISSENSE|cCg/cTg|P588L|877|GRM6|protein_coding|CODING|ENST00000231188|exon_5_178413131_178413754 . . . 0/1:99:183,0,150 5 178413492 rs142780395 G A NON_SYNONYMOUS_CODING GRM6 MODERATE|MISSENSE|cCg/cTg|P588L|877|GRM6|protein_coding|CODING|ENST00000517717|exon_5_178413131_178413754 . . . 0/1:99:183,0,150 5 178413492 rs142780395 G A NON_SYNONYMOUS_CODING GRM6 MODERATE|MISSENSE|cCg/cTg|P744L|1090|GRM6|protein_coding|CODING|ENST00000319065|exon_5_178413131_178413984 . . . 0/1:99:183,0,150 5 178507004 rs149489106 A G NON_SYNONYMOUS_CODING ZNF354C MODERATE|MISSENSE|tAt/tGt|Y524C|554|ZNF354C|protein_coding|CODING|ENST00000315475|exon_5_178505684_178510538 . . . 0/1:99:255,0,255 5 178634704 rs59567206 T C NON_SYNONYMOUS_CODING ADAMTS2 MODERATE|MISSENSE|gAc/gGc|D234G|1211|ADAMTS2|protein_coding|CODING|ENST00000251582|exon_5_178634514_178634716 . . . 0/1:99:127,0,211 5 178634704 rs59567206 T C NON_SYNONYMOUS_CODING ADAMTS2 MODERATE|MISSENSE|gAc/gGc|D234G|566|ADAMTS2|protein_coding|CODING|ENST00000274609|exon_5_178634514_178634716 . . . 0/1:99:127,0,211 5 178700038 rs146064587 C G NON_SYNONYMOUS_CODING ADAMTS2 MODERATE|MISSENSE|Gag/Cag|E188Q|1211|ADAMTS2|protein_coding|CODING|ENST00000251582|exon_5_178699912_178700065 0/1:99:212,0,154 . . . 5 178700038 rs146064587 C G NON_SYNONYMOUS_CODING ADAMTS2 MODERATE|MISSENSE|Gag/Cag|E188Q|566|ADAMTS2|protein_coding|CODING|ENST00000274609|exon_5_178699912_178700065 0/1:99:212,0,154 . . . 5 179078992 . GGGCG GGGCGGCG CODON_CHANGE_PLUS_CODON_INSERTION AC136604.1 MODERATE||cgt/cgGCGt|R160RR|258|AC136604.1|protein_coding|CODING|ENST00000425471|exon_5_179078574_179079294 . . . 0/1:87:84,0,255 5 179195867 rs41285557 G A NON_SYNONYMOUS_CODING MAML1 MODERATE|MISSENSE|aGt/aAt|S583N|1016|MAML1|protein_coding|CODING|ENST00000292599|exon_5_179195851_179196090 . 0/1:99:255,0,102 . . 5 179195867 rs41285557 G A NON_SYNONYMOUS_CODING MAML1 MODERATE|MISSENSE|aGt/aAt|S620N|761|MAML1|protein_coding|CODING|ENST00000376951|exon_5_179195851_179196090 . 0/1:99:255,0,102 . . 5 179260099 rs55793208 G C NON_SYNONYMOUS_CODING SQSTM1 MODERATE|MISSENSE|gaG/gaC|E130D|296|SQSTM1|protein_coding|CODING|ENST00000454378|exon_5_179260032_179260246 0/1:99:166,0,255 . . . 5 179260099 rs55793208 G C NON_SYNONYMOUS_CODING SQSTM1 MODERATE|MISSENSE|gaG/gaC|E190D|356|SQSTM1|protein_coding|CODING|ENST00000360718|exon_5_179260032_179260246 0/1:99:166,0,255 . . . 5 179260099 rs55793208 G C NON_SYNONYMOUS_CODING SQSTM1 MODERATE|MISSENSE|gaG/gaC|E190D|356|SQSTM1|protein_coding|CODING|ENST00000376929|exon_5_179260032_179260246 0/1:99:166,0,255 . . . 5 179260099 rs55793208 G C NON_SYNONYMOUS_CODING SQSTM1 MODERATE|MISSENSE|gaG/gaC|E190D|356|SQSTM1|protein_coding|CODING|ENST00000402874|exon_5_179260032_179260246 0/1:99:166,0,255 . . . 5 179260099 rs55793208 G C NON_SYNONYMOUS_CODING SQSTM1 MODERATE|MISSENSE|gaG/gaC|E274D|378|SQSTM1|protein_coding|CODING|ENST00000510187|exon_5_179260032_179260227 0/1:99:166,0,255 . . . 5 179260099 rs55793208 G C NON_SYNONYMOUS_CODING SQSTM1 MODERATE|MISSENSE|gaG/gaC|E274D|440|SQSTM1|protein_coding|CODING|ENST00000389805|exon_5_179260032_179260246 0/1:99:166,0,255 . . . 5 180030313 rs307821 C A NON_SYNONYMOUS_CODING FLT4 MODERATE|MISSENSE|cGg/cTg|R1324L|1363|FLT4|protein_coding|CODING|ENST00000261937|exon_5_180028506_180030390 . 0/1:99:183,0,220 . . 5 180043441 rs56310180 C T NON_SYNONYMOUS_CODING FLT4 MODERATE|MISSENSE|Gac/Aac|D1049N|1298|FLT4|protein_coding|CODING|ENST00000393347|exon_5_180043367_180043489 . 0/1:99:255,0,103 . . 5 180043441 rs56310180 C T NON_SYNONYMOUS_CODING FLT4 MODERATE|MISSENSE|Gac/Aac|D1049N|1306|FLT4|protein_coding|CODING|ENST00000502649|exon_5_180043367_180043489 . 0/1:99:255,0,103 . . 5 180043441 rs56310180 C T NON_SYNONYMOUS_CODING FLT4 MODERATE|MISSENSE|Gac/Aac|D1049N|1363|FLT4|protein_coding|CODING|ENST00000261937|exon_5_180043367_180043489 . 0/1:99:255,0,103 . . 5 180043441 rs56310180 C T NON_SYNONYMOUS_CODING FLT4 MODERATE|MISSENSE|Gac/Aac|D87N|141|FLT4|protein_coding|CODING|ENST00000512795|exon_5_180043367_180043489 . 0/1:99:255,0,103 . . 5 180048641 rs55667289 G A NON_SYNONYMOUS_CODING FLT4 MODERATE|MISSENSE|Ccc/Tcc|P451S|760|FLT4|protein_coding|CODING|ENST00000376868|exon_5_180048542_180048904 . . 0/1:99:230,0,166 . 5 180048641 rs55667289 G A NON_SYNONYMOUS_CODING FLT4 MODERATE|MISSENSE|Ccc/Tcc|P641S|1298|FLT4|protein_coding|CODING|ENST00000393347|exon_5_180048542_180048904 . . 0/1:99:230,0,166 . 5 180048641 rs55667289 G A NON_SYNONYMOUS_CODING FLT4 MODERATE|MISSENSE|Ccc/Tcc|P641S|1306|FLT4|protein_coding|CODING|ENST00000502649|exon_5_180048542_180048904 . . 0/1:99:230,0,166 . 5 180048641 rs55667289 G A NON_SYNONYMOUS_CODING FLT4 MODERATE|MISSENSE|Ccc/Tcc|P641S|1363|FLT4|protein_coding|CODING|ENST00000261937|exon_5_180048542_180048904 . . 0/1:99:230,0,166 . 5 180051003 rs307826 T C NON_SYNONYMOUS_CODING FLT4 MODERATE|MISSENSE|Acg/Gcg|T304A|760|FLT4|protein_coding|CODING|ENST00000376868|exon_5_180050935_180051061 . 0/1:99:244,0,211 0/1:99:212,0,255 . 5 180051003 rs307826 T C NON_SYNONYMOUS_CODING FLT4 MODERATE|MISSENSE|Acg/Gcg|T494A|1298|FLT4|protein_coding|CODING|ENST00000393347|exon_5_180050935_180051061 . 0/1:99:244,0,211 0/1:99:212,0,255 . 5 180051003 rs307826 T C NON_SYNONYMOUS_CODING FLT4 MODERATE|MISSENSE|Acg/Gcg|T494A|1306|FLT4|protein_coding|CODING|ENST00000502649|exon_5_180050935_180051061 . 0/1:99:244,0,211 0/1:99:212,0,255 . 5 180051003 rs307826 T C NON_SYNONYMOUS_CODING FLT4 MODERATE|MISSENSE|Acg/Gcg|T494A|1363|FLT4|protein_coding|CODING|ENST00000261937|exon_5_180050935_180051061 . 0/1:99:244,0,211 0/1:99:212,0,255 . 5 180377018 rs7703365 C A NON_SYNONYMOUS_CODING BTNL8 MODERATE|MISSENSE|aCa/aAa|T119K|293|BTNL8|protein_coding|CODING|ENST00000505126|exon_5_180376904_180377598 . . . 0/1:99:226,0,255 5 180377018 rs7703365 C A NON_SYNONYMOUS_CODING BTNL8 MODERATE|MISSENSE|aCa/aAa|T142K|316|BTNL8|protein_coding|CODING|ENST00000533815|exon_5_180376904_180377904 . . . 0/1:99:226,0,255 5 180377018 rs7703365 C A NON_SYNONYMOUS_CODING BTNL8 MODERATE|MISSENSE|aCa/aAa|T201K|375|BTNL8|protein_coding|CODING|ENST00000400707|exon_5_180376904_180377661 . . . 0/1:99:226,0,255 5 180377018 rs7703365 C A NON_SYNONYMOUS_CODING BTNL8 MODERATE|MISSENSE|aCa/aAa|T210K|384|BTNL8|protein_coding|CODING|ENST00000511704|exon_5_180376904_180377612 . . . 0/1:99:226,0,255 5 180377018 rs7703365 C A NON_SYNONYMOUS_CODING BTNL8 MODERATE|MISSENSE|aCa/aAa|T326K|500|BTNL8|protein_coding|CODING|ENST00000340184|exon_5_180376904_180377906 . . . 0/1:99:226,0,255 5 180432564 rs73815153 G T NON_SYNONYMOUS_CODING BTNL3 MODERATE|MISSENSE|Ggg/Tgg|G331W|432|BTNL3|protein_coding|CODING|ENST00000376852|exon_5_180432334_180433711 . . . 0/1:99:240,0,254 5 180432564 rs73815153 G T NON_SYNONYMOUS_CODING BTNL3 MODERATE|MISSENSE|Ggg/Tgg|G365W|466|BTNL3|protein_coding|CODING|ENST00000342868|exon_5_180432334_180433727 . . . 0/1:99:240,0,254 5 180432662 rs7726604 C G NON_SYNONYMOUS_CODING BTNL3 MODERATE|MISSENSE|agC/agG|S363R|432|BTNL3|protein_coding|CODING|ENST00000376852|exon_5_180432334_180433711 . . . 0/1:99:188,0,210 5 180432662 rs7726604 C G NON_SYNONYMOUS_CODING BTNL3 MODERATE|MISSENSE|agC/agG|S397R|466|BTNL3|protein_coding|CODING|ENST00000342868|exon_5_180432334_180433727 . . . 0/1:99:188,0,210 5 180432666 rs7726607 C G NON_SYNONYMOUS_CODING BTNL3 MODERATE|MISSENSE|Ccc/Gcc|P365A|432|BTNL3|protein_coding|CODING|ENST00000376852|exon_5_180432334_180433711 . . . 0/1:99:199,0,226 5 180432666 rs7726607 C G NON_SYNONYMOUS_CODING BTNL3 MODERATE|MISSENSE|Ccc/Gcc|P399A|466|BTNL3|protein_coding|CODING|ENST00000342868|exon_5_180432334_180433727 . . . 0/1:99:199,0,226 5 180432747 rs59220426 C G NON_SYNONYMOUS_CODING BTNL3 MODERATE|MISSENSE|Cag/Gag|Q392E|432|BTNL3|protein_coding|CODING|ENST00000376852|exon_5_180432334_180433711 . . . 0/1:99:160,0,196 5 180432747 rs59220426 C G NON_SYNONYMOUS_CODING BTNL3 MODERATE|MISSENSE|Cag/Gag|Q426E|466|BTNL3|protein_coding|CODING|ENST00000342868|exon_5_180432334_180433727 . . . 0/1:99:160,0,196 5 180622575 rs202182023 T G NON_SYNONYMOUS_CODING TRIM7 MODERATE|MISSENSE|cAc/cCc|H168P|303|TRIM7|protein_coding|CODING|ENST00000361809|exon_5_180620925_180622677 0/1:78:75,0,147 . . . 5 180622575 rs202182023 T G NON_SYNONYMOUS_CODING TRIM7 MODERATE|MISSENSE|cAc/cCc|H168P|303|TRIM7|protein_coding|CODING|ENST00000393315|exon_5_180620925_180622677 0/1:78:75,0,147 . . . 5 180622575 rs202182023 T G NON_SYNONYMOUS_CODING TRIM7 MODERATE|MISSENSE|cAc/cCc|H168P|303|TRIM7|protein_coding|CODING|ENST00000422067|exon_5_180621613_180622677 0/1:78:75,0,147 . . . 5 180622575 rs202182023 T G NON_SYNONYMOUS_CODING TRIM7 MODERATE|MISSENSE|cAc/cCc|H194P|329|TRIM7|protein_coding|CODING|ENST00000393319|exon_5_180621613_180622677 0/1:78:75,0,147 . . . 5 180622575 rs202182023 T G NON_SYNONYMOUS_CODING TRIM7 MODERATE|MISSENSE|cAc/cCc|H376P|511|TRIM7|protein_coding|CODING|ENST00000274773|exon_5_180620924_180622677 0/1:78:75,0,147 . . . 5 180622615 rs254460 C T NON_SYNONYMOUS_CODING TRIM7 MODERATE|MISSENSE|Ggc/Agc|G155S|303|TRIM7|protein_coding|CODING|ENST00000361809|exon_5_180620925_180622677 . 0/1:99:134,0,187 . 0/1:99:154,0,156 5 180622615 rs254460 C T NON_SYNONYMOUS_CODING TRIM7 MODERATE|MISSENSE|Ggc/Agc|G155S|303|TRIM7|protein_coding|CODING|ENST00000393315|exon_5_180620925_180622677 . 0/1:99:134,0,187 . 0/1:99:154,0,156 5 180622615 rs254460 C T NON_SYNONYMOUS_CODING TRIM7 MODERATE|MISSENSE|Ggc/Agc|G155S|303|TRIM7|protein_coding|CODING|ENST00000422067|exon_5_180621613_180622677 . 0/1:99:134,0,187 . 0/1:99:154,0,156 5 180622615 rs254460 C T NON_SYNONYMOUS_CODING TRIM7 MODERATE|MISSENSE|Ggc/Agc|G181S|329|TRIM7|protein_coding|CODING|ENST00000393319|exon_5_180621613_180622677 . 0/1:99:134,0,187 . 0/1:99:154,0,156 5 180622615 rs254460 C T NON_SYNONYMOUS_CODING TRIM7 MODERATE|MISSENSE|Ggc/Agc|G363S|511|TRIM7|protein_coding|CODING|ENST00000274773|exon_5_180620924_180622677 . 0/1:99:134,0,187 . 0/1:99:154,0,156 5 180631828 rs2770945 G C NON_SYNONYMOUS_CODING TRIM7 MODERATE|MISSENSE|Cag/Gag|Q95E|221|TRIM7|protein_coding|CODING|ENST00000334421|exon_5_180631589_180632293 . 0/1:99:151,0,243 . 1/1:99:255,51,0 5 180631828 rs2770945 G C NON_SYNONYMOUS_CODING TRIM7 MODERATE|MISSENSE|Cag/Gag|Q95E|511|TRIM7|protein_coding|CODING|ENST00000274773|exon_5_180631589_180632172 . 0/1:99:151,0,243 . 1/1:99:255,51,0 6 203722 rs80014302 T G NON_SYNONYMOUS_CODING AL035696.1 MODERATE|MISSENSE|cTt/cGt|L97R|122|AL035696.1|protein_coding|CODING|ENST00000381078|exon_6_203313_204413 . 0/1:99:255,0,217 . . 6 345903 rs200834679 C T NON_SYNONYMOUS_CODING DUSP22 MODERATE|MISSENSE|Cgc/Tgc|R80C|184|DUSP22|protein_coding|CODING|ENST00000344450|exon_6_345854_345928 . . 0/1:99:146,0,255 . 6 1390444 rs72667003 G A NON_SYNONYMOUS_CODING FOXF2 MODERATE|MISSENSE|Gcc/Acc|A88T|444|FOXF2|protein_coding|CODING|ENST00000259806|exon_6_1390069_1391353 0/1:56:59,0,54 . . . 6 2624053 rs17135340 T A NON_SYNONYMOUS_CODING C6orf195 MODERATE|MISSENSE|Atc/Ttc|I2F|127|C6orf195|protein_coding|CODING|ENST00000296847|exon_6_2622147_2624353 0/1:99:255,0,252 0/1:99:255,0,254 0/1:99:255,0,255 . 6 2685775 rs34953021 G A NON_SYNONYMOUS_CODING MYLK4 MODERATE|MISSENSE|aCg/aTg|T126M|388|MYLK4|protein_coding|CODING|ENST00000268446|exon_6_2685717_2685810 0/1:99:195,0,185 . 0/1:99:255,0,215 . 6 2685775 rs34953021 G A NON_SYNONYMOUS_CODING MYLK4 MODERATE|MISSENSE|aCg/aTg|T126M|388|MYLK4|protein_coding|CODING|ENST00000274643|exon_6_2685717_2685810 0/1:99:195,0,185 . 0/1:99:255,0,215 . 6 2766363 . GGGCGACGGCGATGGCGACGG GGGCGACGG CODON_CHANGE_PLUS_CODON_DELETION WRNIP1 MODERATE||ggcgatggcgacggg/ggg|GDGDG172G|640|WRNIP1|protein_coding|CODING|ENST00000380771|exon_6_2765648_2766678 . . 0/1:99:134,0,255 . 6 2766363 . GGGCGACGGCGATGGCGACGG GGGCGACGG CODON_CHANGE_PLUS_CODON_DELETION WRNIP1 MODERATE||ggcgatggcgacggg/ggg|GDGDG172G|665|WRNIP1|protein_coding|CODING|ENST00000380773|exon_6_2765648_2766678 . . 0/1:99:134,0,255 . 6 2768965 rs77289107 A G NON_SYNONYMOUS_CODING WRNIP1 MODERATE|MISSENSE|cAt/cGt|H288R|640|WRNIP1|protein_coding|CODING|ENST00000380771|exon_6_2768925_2769116 . . . 0/1:99:255,0,255 6 2768965 rs77289107 A G NON_SYNONYMOUS_CODING WRNIP1 MODERATE|MISSENSE|cAt/cGt|H288R|665|WRNIP1|protein_coding|CODING|ENST00000380773|exon_6_2768925_2769116 . . . 0/1:99:255,0,255 6 2768965 rs77289107 A G NON_SYNONYMOUS_CODING WRNIP1 MODERATE|MISSENSE|cAt/cGt|H68R|445|WRNIP1|protein_coding|CODING|ENST00000380769|exon_6_2768925_2769116 . . . 0/1:99:255,0,255 6 3012778 rs17300141 G A NON_SYNONYMOUS_CODING NQO2 MODERATE|MISSENSE|gGt/gAt|G105D|160|NQO2|protein_coding|CODING|ENST00000538898|exon_6_3012778_3012908 0/1:99:188,0,255 . . . 6 3012778 rs17300141 G A NON_SYNONYMOUS_CODING NQO2 MODERATE|MISSENSE|gGt/gAt|G58D|138|NQO2|protein_coding|CODING|ENST00000380472|exon_6_3012778_3012908 0/1:99:188,0,255 . . . 6 3012778 rs17300141 G A NON_SYNONYMOUS_CODING NQO2 MODERATE|MISSENSE|gGt/gAt|G58D|138|NQO2|protein_coding|CODING|ENST00000397717|exon_6_3012778_3012908 0/1:99:188,0,255 . . . 6 3012778 rs17300141 G A NON_SYNONYMOUS_CODING NQO2 MODERATE|MISSENSE|gGt/gAt|G58D|193|NQO2|protein_coding|CODING|ENST00000380441|exon_6_3012778_3012908 0/1:99:188,0,255 . . . 6 3012778 rs17300141 G A NON_SYNONYMOUS_CODING NQO2 MODERATE|MISSENSE|gGt/gAt|G58D|193|NQO2|protein_coding|CODING|ENST00000380454|exon_6_3012778_3012908 0/1:99:188,0,255 . . . 6 3012778 rs17300141 G A NON_SYNONYMOUS_CODING NQO2 MODERATE|MISSENSE|gGt/gAt|G58D|231|NQO2|protein_coding|CODING|ENST00000338130|exon_6_3012778_3012908 0/1:99:188,0,255 . . . 6 3012778 rs17300141 G A NON_SYNONYMOUS_CODING NQO2 MODERATE|MISSENSE|gGt/gAt|G58D|231|NQO2|protein_coding|CODING|ENST00000380430|exon_6_3012778_3012908 0/1:99:188,0,255 . . . 6 3012778 rs17300141 G A NON_SYNONYMOUS_CODING NQO2 MODERATE|MISSENSE|gGt/gAt|G58D|231|NQO2|protein_coding|CODING|ENST00000380455|exon_6_3012778_3012908 0/1:99:188,0,255 . . . 6 3012778 rs17300141 G A NON_SYNONYMOUS_CODING NQO2 MODERATE|MISSENSE|gGt/gAt|G58D|62|NQO2|protein_coding|CODING|ENST00000426637|exon_6_3012778_3012795 0/1:99:188,0,255 . . . 6 4069133 rs10485172 T C NON_SYNONYMOUS_CODING C6orf146 MODERATE|MISSENSE|Atg/Gtg|M289V|355|C6orf146|protein_coding|CODING|ENST00000538080|exon_6_4068930_4069985 . . 0/1:99:255,0,255 . 6 4069133 rs10485172 T C NON_SYNONYMOUS_CODING C6orf146 MODERATE|MISSENSE|Atg/Gtg|M442V|508|C6orf146|protein_coding|CODING|ENST00000274673|exon_6_4068596_4070154 . . 0/1:99:255,0,255 . 6 4069133 rs10485172 T C NON_SYNONYMOUS_CODING C6orf146 MODERATE|MISSENSE|Atg/Gtg|M570V|584|C6orf146|protein_coding|CODING|ENST00000470599|exon_6_4069084_4070154 . . 0/1:99:255,0,255 . 6 4099365 rs149222573 G T NON_SYNONYMOUS_CODING C6orf201 MODERATE|MISSENSE|Ggg/Tgg|G73W|115|C6orf201|protein_coding|CODING|ENST00000436110|exon_6_4099234_4099432 . 0/1:99:207,0,255 . . 6 4099365 rs149222573 G T NON_SYNONYMOUS_CODING C6orf201 MODERATE|MISSENSE|Ggg/Tgg|G73W|128|C6orf201|protein_coding|CODING|ENST00000430835|exon_6_4099234_4099432 . 0/1:99:207,0,255 . . 6 4099365 rs149222573 G T NON_SYNONYMOUS_CODING C6orf201 MODERATE|MISSENSE|Ggg/Tgg|G73W|138|C6orf201|protein_coding|CODING|ENST00000451679|exon_6_4099234_4099432 . 0/1:99:207,0,255 . . 6 4099365 rs149222573 G T NON_SYNONYMOUS_CODING C6orf201 MODERATE|MISSENSE|Ggg/Tgg|G73W|140|C6orf201|protein_coding|CODING|ENST00000380175|exon_6_4099234_4099432 . 0/1:99:207,0,255 . . 6 4099365 rs149222573 G T NON_SYNONYMOUS_CODING C6orf201 MODERATE|MISSENSE|Ggg/Tgg|G73W|196|C6orf201|protein_coding|CODING|ENST00000541127|exon_6_4099234_4099432 . 0/1:99:207,0,255 . . 6 4099365 rs149222573 G T NON_SYNONYMOUS_CODING C6orf201 MODERATE|MISSENSE|Ggg/Tgg|G76W|131|C6orf201|protein_coding|CODING|ENST00000427996|exon_6_4099234_4099432 . 0/1:99:207,0,255 . . 6 4099365 rs149222573 G T NON_SYNONYMOUS_CODING C6orf201 MODERATE|MISSENSE|Ggg/Tgg|G76W|143|C6orf201|protein_coding|CODING|ENST00000333388|exon_6_4099234_4099432 . 0/1:99:207,0,255 . . 6 6152140 rs5987 C T NON_SYNONYMOUS_CODING F13A1 MODERATE|MISSENSE|Gaa/Aaa|E588K|626|F13A1|protein_coding|CODING|ENST00000441301|exon_6_6152140_6152182 0/1:99:214,0,238 0/1:99:255,0,241 . . 6 6152140 rs5987 C T NON_SYNONYMOUS_CODING F13A1 MODERATE|MISSENSE|Gtt/Att|V651I|732|F13A1|protein_coding|CODING|ENST00000264870|exon_6_6152046_6152182 0/1:99:214,0,238 0/1:99:255,0,241 . . 6 7231843 rs9379084 G A NON_SYNONYMOUS_CODING RREB1 MODERATE|MISSENSE|Gac/Aac|D1171N|1476|RREB1|protein_coding|CODING|ENST00000334984|exon_6_7229230_7232140 . . 0/1:99:124,0,191 . 6 7231843 rs9379084 G A NON_SYNONYMOUS_CODING RREB1 MODERATE|MISSENSE|Gac/Aac|D1171N|1687|RREB1|protein_coding|CODING|ENST00000349384|exon_6_7229230_7232140 . . 0/1:99:124,0,191 . 6 7231843 rs9379084 G A NON_SYNONYMOUS_CODING RREB1 MODERATE|MISSENSE|Gac/Aac|D1171N|1687|RREB1|protein_coding|CODING|ENST00000379933|exon_6_7229230_7232140 . . 0/1:99:124,0,191 . 6 7231843 rs9379084 G A NON_SYNONYMOUS_CODING RREB1 MODERATE|MISSENSE|Gac/Aac|D1171N|1742|RREB1|protein_coding|CODING|ENST00000379938|exon_6_7229230_7232140 . . 0/1:99:124,0,191 . 6 7405242 rs34455054 G A NON_SYNONYMOUS_CODING RIOK1 MODERATE|MISSENSE|Gcc/Acc|A362T|568|RIOK1|protein_coding|CODING|ENST00000379834|exon_6_7405151_7405254 . . 0/1:99:228,0,255 . 6 7727522 . GAGCAGCAGCAGCAGCAGCAGC GAGCAGCAGCAGCAGCAGCAGCAGC CODON_CHANGE_PLUS_CODON_INSERTION BMP6 MODERATE||ctg/cAGCtg|L119QL|513|BMP6|protein_coding|CODING|ENST00000283147|exon_6_7727030_7727852 0/1:29:217,0,26 . . . 6 7727522 . GAGCAGCAGCAGCAGCAGCAGC GAGCAGCAGCAGCAGCAGCAGCAGC CODON_CHANGE_PLUS_CODON_INSERTION BMP6 MODERATE||ctg/cAGCtg|L41QL|435|BMP6|protein_coding|CODING|ENST00000537240|exon_6_7727372_7727852 0/1:29:217,0,26 . . . 6 7727522 . GAGCAGCAGCAGCAGCAGCAGC GAGCAGCAGCAGCAGCAGCAGCAGC CODON_CHANGE_PLUS_CODON_INSERTION BMP6 MODERATE||ctg/cAGCtg|L82QL|476|BMP6|protein_coding|CODING|ENST00000540959|exon_6_7727298_7727852 0/1:29:217,0,26 . . . 6 13801615 rs3180196 T C NON_SYNONYMOUS_CODING CCDC90A MODERATE|MISSENSE|Act/Gct|T216A|359|CCDC90A|protein_coding|CODING|ENST00000379170|exon_6_13801520_13801621 0/1:99:245,0,255 0/1:99:190,0,255 0/1:99:255,0,255 . 6 15523448 rs17470454 G A NON_SYNONYMOUS_CODING DTNBP1 MODERATE|MISSENSE|Cct/Tct|P116S|195|DTNBP1|protein_coding|CODING|ENST00000462989|exon_6_15523038_15523450 . . . 0/1:99:232,0,162 6 15523448 rs17470454 G A NON_SYNONYMOUS_CODING DTNBP1 MODERATE|MISSENSE|Cct/Tct|P191S|270|DTNBP1|protein_coding|CODING|ENST00000397306|exon_6_15523041_15523450 . . . 0/1:99:232,0,162 6 15523448 rs17470454 G A NON_SYNONYMOUS_CODING DTNBP1 MODERATE|MISSENSE|Cct/Tct|P272S|351|DTNBP1|protein_coding|CODING|ENST00000344537|exon_6_15523032_15523450 . . . 0/1:99:232,0,162 6 15523448 rs17470454 G A NON_SYNONYMOUS_CODING DTNBP1 MODERATE|MISSENSE|Cct/Tct|P273S|352|DTNBP1|protein_coding|CODING|ENST00000355917|exon_6_15523041_15523450 . . . 0/1:99:232,0,162 6 15523448 rs17470454 G A NON_SYNONYMOUS_CODING DTNBP1 MODERATE|MISSENSE|Cct/Tct|P89S|141|DTNBP1|protein_coding|CODING|ENST00000509674|exon_6_15523286_15523450 . . . 0/1:99:232,0,162 6 15546294 rs200151503 C T NON_SYNONYMOUS_CODING DTNBP1 MODERATE|MISSENSE|Gaa/Aaa|E165K|352|DTNBP1|protein_coding|CODING|ENST00000355917|exon_6_15546273_15546298 . 0/1:72:69,0,111 . 0/1:68:65,0,172 6 16327909 rs59310777 A C NON_SYNONYMOUS_CODING ATXN1 MODERATE|MISSENSE|caT/caG|H211Q|815|ATXN1|protein_coding|CODING|ENST00000244769|exon_6_16326625_16328701 . 0/1:73:70,0,255 . . 6 16327909 rs59310777 A C NON_SYNONYMOUS_CODING ATXN1 MODERATE|MISSENSE|caT/caG|H211Q|815|ATXN1|protein_coding|CODING|ENST00000436367|exon_6_16326625_16328701 . 0/1:73:70,0,255 . . 6 16327909 rs59310777 A C NON_SYNONYMOUS_CODING ATXN1 MODERATE|MISSENSE|caT/caG|H211Q|815|ATXN1|protein_coding|CODING|ENST00000450222|exon_6_16326625_16328701 . 0/1:73:70,0,255 . . 6 16327912 . CTGATG CTG CODON_DELETION ATXN1 MODERATE||cat/-|H209-|815|ATXN1|protein_coding|CODING|ENST00000244769|exon_6_16326625_16328701 . . 0/1:99:119,0,132 0/1:74:75,0,74 6 16327912 . CTGATG CTG CODON_DELETION ATXN1 MODERATE||cat/-|H209-|815|ATXN1|protein_coding|CODING|ENST00000436367|exon_6_16326625_16328701 . . 0/1:99:119,0,132 0/1:74:75,0,74 6 16327912 . CTGATG CTG CODON_DELETION ATXN1 MODERATE||cat/-|H209-|815|ATXN1|protein_coding|CODING|ENST00000450222|exon_6_16326625_16328701 . . 0/1:99:119,0,132 0/1:74:75,0,74 6 17633033 rs61744976 G C NON_SYNONYMOUS_CODING NUP153 MODERATE|MISSENSE|tCt/tGt|S816C|1455|NUP153|protein_coding|CODING|ENST00000430136|exon_6_17632881_17633075 . . 0/1:98:234,0,95 . 6 17633033 rs61744976 G C NON_SYNONYMOUS_CODING NUP153 MODERATE|MISSENSE|tCt/tGt|S836C|1475|NUP153|protein_coding|CODING|ENST00000262077|exon_6_17632881_17633075 . . 0/1:98:234,0,95 . 6 17633033 rs61744976 G C NON_SYNONYMOUS_CODING NUP153 MODERATE|MISSENSE|tCt/tGt|S867C|1506|NUP153|protein_coding|CODING|ENST00000537253|exon_6_17632881_17633075 . . 0/1:98:234,0,95 . 6 17637566 . G A NON_SYNONYMOUS_CODING NUP153 MODERATE|MISSENSE|aCa/aTa|T741I|1455|NUP153|protein_coding|CODING|ENST00000430136|exon_6_17637384_17638001 0/1:99:255,0,255 . . . 6 17637566 . G A NON_SYNONYMOUS_CODING NUP153 MODERATE|MISSENSE|aCa/aTa|T761I|1475|NUP153|protein_coding|CODING|ENST00000262077|exon_6_17637384_17638001 0/1:99:255,0,255 . . . 6 17637566 . G A NON_SYNONYMOUS_CODING NUP153 MODERATE|MISSENSE|aCa/aTa|T792I|1506|NUP153|protein_coding|CODING|ENST00000537253|exon_6_17637384_17638001 0/1:99:255,0,255 . . . 6 17688693 rs16879902 C T NON_SYNONYMOUS_CODING NUP153 MODERATE|MISSENSE|Gat/Aat|D112N|1455|NUP153|protein_coding|CODING|ENST00000430136|exon_6_17688627_17688849 . . . 0/1:99:252,0,212 6 17688693 rs16879902 C T NON_SYNONYMOUS_CODING NUP153 MODERATE|MISSENSE|Gat/Aat|D90N|1475|NUP153|protein_coding|CODING|ENST00000262077|exon_6_17688627_17688849 . . . 0/1:99:252,0,212 6 17688693 rs16879902 C T NON_SYNONYMOUS_CODING NUP153 MODERATE|MISSENSE|Gat/Aat|D90N|1506|NUP153|protein_coding|CODING|ENST00000537253|exon_6_17688627_17688849 . . . 0/1:99:252,0,212 6 20109956 rs45596536 A G NON_SYNONYMOUS_CODING MBOAT1 MODERATE|MISSENSE|Ttc/Ctc|F263L|346|MBOAT1|protein_coding|CODING|ENST00000541730|exon_6_20109829_20109980 . 0/1:99:255,0,255 . . 6 20109956 rs45596536 A G NON_SYNONYMOUS_CODING MBOAT1 MODERATE|MISSENSE|Ttc/Ctc|F412L|495|MBOAT1|protein_coding|CODING|ENST00000324607|exon_6_20109829_20109980 . 0/1:99:255,0,255 . . 6 20212410 rs61737148 T C NON_SYNONYMOUS_CODING MBOAT1 MODERATE|MISSENSE|tAc/tGc|Y19C|241|MBOAT1|protein_coding|CODING|ENST00000536798|exon_6_20212367_20212670 0/1:99:191,0,143 . . . 6 20212410 rs61737148 T C NON_SYNONYMOUS_CODING MBOAT1 MODERATE|MISSENSE|tAc/tGc|Y19C|495|MBOAT1|protein_coding|CODING|ENST00000324607|exon_6_20212367_20212630 0/1:99:191,0,143 . . . 6 22570064 rs2076506 C T NON_SYNONYMOUS_CODING HDGFL1 MODERATE|MISSENSE|aCg/aTg|T87M|251|HDGFL1|protein_coding|CODING|ENST00000230012|exon_6_22569678_22570750 0/1:99:211,0,219 0/1:99:146,0,245 . . 6 22570064 rs2076506 C T NON_SYNONYMOUS_CODING HDGFL1 MODERATE|MISSENSE|aCg/aTg|T87M|251|HDGFL1|protein_coding|CODING|ENST00000510882|exon_6_22569795_22570751 0/1:99:211,0,219 0/1:99:146,0,245 . . 6 25850845 rs56027330 C T NON_SYNONYMOUS_CODING SLC17A3 MODERATE|MISSENSE|Ggg/Agg|G201R|420|SLC17A3|protein_coding|CODING|ENST00000360657|exon_6_25850687_25850848 . . . 0/1:99:255,0,255 6 25850845 rs56027330 C T NON_SYNONYMOUS_CODING SLC17A3 MODERATE|MISSENSE|Ggg/Agg|G201R|420|SLC17A3|protein_coding|CODING|ENST00000361703|exon_6_25850687_25850848 . . . 0/1:99:255,0,255 6 25850845 rs56027330 C T NON_SYNONYMOUS_CODING SLC17A3 MODERATE|MISSENSE|Ggg/Agg|G279R|498|SLC17A3|protein_coding|CODING|ENST00000397060|exon_6_25850687_25850848 . . . 0/1:99:255,0,255 6 25972179 rs150462702 A G NON_SYNONYMOUS_CODING TRIM38 MODERATE|MISSENSE|tAt/tGt|Y197C|465|TRIM38|protein_coding|CODING|ENST00000349458|exon_6_25972097_25972327 . . . 0/1:99:227,0,238 6 25972179 rs150462702 A G NON_SYNONYMOUS_CODING TRIM38 MODERATE|MISSENSE|tAt/tGt|Y197C|465|TRIM38|protein_coding|CODING|ENST00000357085|exon_6_25972097_25972327 . . . 0/1:99:227,0,238 6 25972179 rs150462702 A G NON_SYNONYMOUS_CODING TRIM38 MODERATE|MISSENSE|tAt/tGt|Y197C|465|TRIM38|protein_coding|CODING|ENST00000540262|exon_6_25972097_25972327 . . . 0/1:99:227,0,238 6 26017617 rs34541321 G A NON_SYNONYMOUS_CODING HIST1H1A MODERATE|MISSENSE|tCc/tTc|S115F|215|HIST1H1A|protein_coding|CODING|ENST00000244573|exon_6_26017260_26018040 . 0/1:99:237,0,222 . . 6 26235052 . G A NON_SYNONYMOUS_CODING HIST1H1D MODERATE|MISSENSE|tCc/tTc|S37F|221|HIST1H1D|protein_coding|CODING|ENST00000244534|exon_6_26234440_26235216 0/1:99:255,0,174 . . . 6 26370748 rs35183513 G A NON_SYNONYMOUS_CODING BTN3A2 MODERATE|MISSENSE|aGa/aAa|R169K|195|BTN3A2|protein_coding|CODING|ENST00000532865|exon_6_26370550_26370831 . 0/1:99:242,0,255 . . 6 26370748 rs35183513 G A NON_SYNONYMOUS_CODING BTN3A2 MODERATE|MISSENSE|aGa/aAa|R169K|292|BTN3A2|protein_coding|CODING|ENST00000508906|exon_6_26370550_26370831 . 0/1:99:242,0,255 . . 6 26370748 rs35183513 G A NON_SYNONYMOUS_CODING BTN3A2 MODERATE|MISSENSE|aGa/aAa|R188K|311|BTN3A2|protein_coding|CODING|ENST00000396934|exon_6_26370550_26370831 . 0/1:99:242,0,255 . . 6 26370748 rs35183513 G A NON_SYNONYMOUS_CODING BTN3A2 MODERATE|MISSENSE|aGa/aAa|R211K|319|BTN3A2|protein_coding|CODING|ENST00000535620|exon_6_26370550_26370831 . 0/1:99:242,0,255 . . 6 26370748 rs35183513 G A NON_SYNONYMOUS_CODING BTN3A2 MODERATE|MISSENSE|aGa/aAa|R211K|334|BTN3A2|protein_coding|CODING|ENST00000356386|exon_6_26370550_26370831 . 0/1:99:242,0,255 . . 6 26370748 rs35183513 G A NON_SYNONYMOUS_CODING BTN3A2 MODERATE|MISSENSE|aGa/aAa|R211K|334|BTN3A2|protein_coding|CODING|ENST00000377708|exon_6_26370550_26370831 . 0/1:99:242,0,255 . . 6 26370748 rs35183513 G A NON_SYNONYMOUS_CODING BTN3A2 MODERATE|MISSENSE|aGa/aAa|R211K|334|BTN3A2|protein_coding|CODING|ENST00000396948|exon_6_26370550_26370831 . 0/1:99:242,0,255 . . 6 26370748 rs35183513 G A NON_SYNONYMOUS_CODING BTN3A2 MODERATE|MISSENSE|aGa/aAa|R211K|334|BTN3A2|protein_coding|CODING|ENST00000527422|exon_6_26370550_26370831 . 0/1:99:242,0,255 . . 6 26385326 rs181037825 G A NON_SYNONYMOUS_CODING BTN2A2 MODERATE|MISSENSE|Gag/Aag|E60K|238|BTN2A2|protein_coding|CODING|ENST00000493275|exon_6_26385243_26385590 . . 0/1:99:227,0,255 . 6 26385326 rs181037825 G A NON_SYNONYMOUS_CODING BTN2A2 MODERATE|MISSENSE|Gag/Aag|E60K|256|BTN2A2|protein_coding|CODING|ENST00000432533|exon_6_26385243_26385590 . . 0/1:99:227,0,255 . 6 26385326 rs181037825 G A NON_SYNONYMOUS_CODING BTN2A2 MODERATE|MISSENSE|Gag/Aag|E60K|336|BTN2A2|protein_coding|CODING|ENST00000469230|exon_6_26385243_26385590 . . 0/1:99:227,0,255 . 6 26385326 rs181037825 G A NON_SYNONYMOUS_CODING BTN2A2 MODERATE|MISSENSE|Gag/Aag|E60K|523|BTN2A2|protein_coding|CODING|ENST00000356709|exon_6_26385243_26385590 . . 0/1:99:227,0,255 . 6 26385326 rs181037825 G A NON_SYNONYMOUS_CODING BTN2A2 MODERATE|MISSENSE|Gag/Aag|E60K|523|BTN2A2|protein_coding|CODING|ENST00000416795|exon_6_26385243_26385590 . . 0/1:99:227,0,255 . 6 26385326 rs181037825 G A NON_SYNONYMOUS_CODING BTN2A2 MODERATE|MISSENSE|Gag/Aag|E60K|95|BTN2A2|protein_coding|CODING|ENST00000494184|exon_6_26385243_26385437 . . 0/1:99:227,0,255 . 6 26388393 rs201605260 G A NON_SYNONYMOUS_CODING BTN2A2 MODERATE|MISSENSE|Gct/Act|A199T|238|BTN2A2|protein_coding|CODING|ENST00000493275|exon_6_26388241_26388517 . . 0/1:99:151,0,242 . 6 26388393 rs201605260 G A NON_SYNONYMOUS_CODING BTN2A2 MODERATE|MISSENSE|Gct/Act|A199T|336|BTN2A2|protein_coding|CODING|ENST00000469230|exon_6_26388241_26388522 . . 0/1:99:151,0,242 . 6 26388393 rs201605260 G A NON_SYNONYMOUS_CODING BTN2A2 MODERATE|MISSENSE|Gct/Act|A199T|523|BTN2A2|protein_coding|CODING|ENST00000356709|exon_6_26388241_26388522 . . 0/1:99:151,0,242 . 6 26388393 rs201605260 G A NON_SYNONYMOUS_CODING BTN2A2 MODERATE|MISSENSE|Gct/Act|A199T|523|BTN2A2|protein_coding|CODING|ENST00000416795|exon_6_26388241_26388522 . . 0/1:99:151,0,242 . 6 26388393 rs201605260 G A NON_SYNONYMOUS_CODING BTN2A2 MODERATE|MISSENSE|Gct/Act|A83T|109|BTN2A2|protein_coding|CODING|ENST00000472507|exon_6_26388241_26388477 . . 0/1:99:151,0,242 . 6 26388393 rs201605260 G A NON_SYNONYMOUS_CODING BTN2A2 MODERATE|MISSENSE|Gct/Act|A83T|183|BTN2A2|protein_coding|CODING|ENST00000483410|exon_6_26388241_26388522 . . 0/1:99:151,0,242 . 6 26388393 rs201605260 G A NON_SYNONYMOUS_CODING BTN2A2 MODERATE|MISSENSE|Gct/Act|A83T|407|BTN2A2|protein_coding|CODING|ENST00000352867|exon_6_26388241_26388522 . . 0/1:99:151,0,242 . 6 26406248 rs149895116 A G NON_SYNONYMOUS_CODING BTN3A1 MODERATE|MISSENSE|aAg/aGg|K66R|118|BTN3A1|protein_coding|CODING|ENST00000450085|exon_6_26406137_26406408 . . . 0/1:99:171,0,135 6 26406248 rs149895116 A G NON_SYNONYMOUS_CODING BTN3A1 MODERATE|MISSENSE|aAg/aGg|K66R|352|BTN3A1|protein_coding|CODING|ENST00000476549|exon_6_26406137_26406484 . . . 0/1:99:171,0,135 6 26406248 rs149895116 A G NON_SYNONYMOUS_CODING BTN3A1 MODERATE|MISSENSE|aAg/aGg|K66R|378|BTN3A1|protein_coding|CODING|ENST00000425234|exon_6_26406137_26406484 . . . 0/1:99:171,0,135 6 26406248 rs149895116 A G NON_SYNONYMOUS_CODING BTN3A1 MODERATE|MISSENSE|aAg/aGg|K66R|461|BTN3A1|protein_coding|CODING|ENST00000414912|exon_6_26406137_26406484 . . . 0/1:99:171,0,135 6 26406248 rs149895116 A G NON_SYNONYMOUS_CODING BTN3A1 MODERATE|MISSENSE|aAg/aGg|K66R|513|BTN3A1|protein_coding|CODING|ENST00000289361|exon_6_26406137_26406484 . . . 0/1:99:171,0,135 6 26406248 rs149895116 A G NON_SYNONYMOUS_CODING BTN3A1 MODERATE|MISSENSE|aAg/aGg|K66R|90|BTN3A1|protein_coding|CODING|ENST00000506698|exon_6_26406137_26406326 . . . 0/1:99:171,0,135 6 26413744 rs4712990 C A NON_SYNONYMOUS_CODING BTN3A1 MODERATE|MISSENSE|Ccc/Acc|P404T|461|BTN3A1|protein_coding|CODING|ENST00000414912|exon_6_26413397_26414301 . 0/1:99:211,0,255 . . 6 26413744 rs4712990 C A NON_SYNONYMOUS_CODING BTN3A1 MODERATE|MISSENSE|Ccc/Acc|P456T|513|BTN3A1|protein_coding|CODING|ENST00000289361|exon_6_26413397_26415444 . 0/1:99:211,0,255 . . 6 28227993 rs147161729 G A NON_SYNONYMOUS_CODING NKAPL MODERATE|MISSENSE|Gca/Aca|A282T|402|NKAPL|protein_coding|CODING|ENST00000343684|exon_6_28227098_28228736 0/1:99:245,0,224 . . . 6 28541333 rs150277871 C T NON_SYNONYMOUS_CODING SCAND3 MODERATE|MISSENSE|cGa/cAa|R778Q|1325|SCAND3|protein_coding|CODING|ENST00000452236|exon_6_28539407_28541604 . 0/1:99:255,0,255 . . 6 29054923 rs149723131 A G NON_SYNONYMOUS_CODING OR2B3 MODERATE|MISSENSE|Tac/Cac|Y35H|313|OR2B3|protein_coding|CODING|ENST00000377173|exon_6_29053985_29055090 . . 0/1:99:251,0,255 . 6 29275298 rs17404424 G A NON_SYNONYMOUS_CODING OR14J1 MODERATE|MISSENSE|Gtg/Atg|V278M|321|OR14J1|protein_coding|CODING|ENST00000377160|exon_6_29274403_29275519 . 0/1:99:255,0,255 . . 6 29323838 rs9257770 A C NON_SYNONYMOUS_CODING OR5V1 MODERATE|MISSENSE|atT/atG|I45M|321|OR5V1|protein_coding|CODING|ENST00000377151|exon_6_29323007_29324054 . . 0/1:99:255,0,236 . 6 29323838 rs9257770 A C NON_SYNONYMOUS_CODING OR5V1 MODERATE|MISSENSE|atT/atG|I45M|321|OR5V1|protein_coding|CODING|ENST00000377154|exon_6_29323007_29324054 . . 0/1:99:255,0,236 . 6 29323838 rs9257770 A C NON_SYNONYMOUS_CODING OR5V1 MODERATE|MISSENSE|atT/atG|I45M|321|OR5V1|protein_coding|CODING|ENST00000543825|exon_6_29323007_29324054 . . 0/1:99:255,0,236 . 6 29408090 rs17177632 A G NON_SYNONYMOUS_CODING OR10C1 MODERATE|MISSENSE|Atg/Gtg|M100V|312|OR10C1|protein_coding|CODING|ENST00000444197|exon_6_29407083_29408731 . . . 0/1:99:255,0,247 6 29408270 rs2074468 C T NON_SYNONYMOUS_CODING OR10C1 MODERATE|MISSENSE|Cct/Tct|P160S|312|OR10C1|protein_coding|CODING|ENST00000444197|exon_6_29407083_29408731 . . . 0/1:93:90,0,173 6 29408275 rs2074467 C A NON_SYNONYMOUS_CODING OR10C1 MODERATE|MISSENSE|ttC/ttA|F161L|312|OR10C1|protein_coding|CODING|ENST00000444197|exon_6_29407083_29408731 . . . 0/1:98:95,0,143 6 29408555 rs17177674 C A NON_SYNONYMOUS_CODING OR10C1 MODERATE|MISSENSE|Ctc/Atc|L255I|312|OR10C1|protein_coding|CODING|ENST00000444197|exon_6_29407083_29408731 . . . 0/1:91:88,0,221 6 29523670 rs7757931 C A NON_SYNONYMOUS_CODING UBD MODERATE|MISSENSE|tGt/tTt|C162F|165|UBD|protein_coding|CODING|ENST00000377050|exon_6_29523292_29524127 . . . 0/1:99:201,0,252 6 29523859 rs2076487 G C NON_SYNONYMOUS_CODING UBD MODERATE|MISSENSE|gCa/gGa|A99G|165|UBD|protein_coding|CODING|ENST00000377050|exon_6_29523292_29524127 . . . 0/1:99:227,0,255 6 29523872 rs2076486 A G NON_SYNONYMOUS_CODING UBD MODERATE|MISSENSE|Tca/Cca|S95P|165|UBD|protein_coding|CODING|ENST00000377050|exon_6_29523292_29524127 . . . 0/1:99:213,0,255 6 29524003 rs2076484 A G NON_SYNONYMOUS_CODING UBD MODERATE|MISSENSE|tTg/tCg|L51S|165|UBD|protein_coding|CODING|ENST00000377050|exon_6_29523292_29524127 . . . 0/1:99:239,0,252 6 29694680 rs3734814 A C NON_SYNONYMOUS_CODING HLA-F MODERATE|MISSENSE|Aac/Cac|N224H|259|HLA-F|protein_coding|CODING|ENST00000440587|exon_6_29694660_29694781 . 0/1:99:255,0,219 . . 6 29694680 rs3734814 A C NON_SYNONYMOUS_CODING HLA-F MODERATE|MISSENSE|Aac/Cac|N267H|349|HLA-F|protein_coding|CODING|ENST00000399258|exon_6_29694660_29694781 . 0/1:99:255,0,219 . . 6 29694680 rs3734814 A C NON_SYNONYMOUS_CODING HLA-F MODERATE|MISSENSE|Aac/Cac|N330H|419|HLA-F|protein_coding|CODING|ENST00000449921|exon_6_29694660_29695072 . 0/1:99:255,0,219 . . 6 29694680 rs3734814 A C NON_SYNONYMOUS_CODING HLA-F MODERATE|MISSENSE|Aac/Cac|N353H|442|HLA-F|protein_coding|CODING|ENST00000259951|exon_6_29694660_29695073 . 0/1:99:255,0,219 . . 6 29694681 rs3734815 A T NON_SYNONYMOUS_CODING HLA-F MODERATE|MISSENSE|aAc/aTc|N224I|259|HLA-F|protein_coding|CODING|ENST00000440587|exon_6_29694660_29694781 . 0/1:99:255,0,213 . . 6 29694681 rs3734815 A T NON_SYNONYMOUS_CODING HLA-F MODERATE|MISSENSE|aAc/aTc|N267I|349|HLA-F|protein_coding|CODING|ENST00000399258|exon_6_29694660_29694781 . 0/1:99:255,0,213 . . 6 29694681 rs3734815 A T NON_SYNONYMOUS_CODING HLA-F MODERATE|MISSENSE|aAc/aTc|N330I|419|HLA-F|protein_coding|CODING|ENST00000449921|exon_6_29694660_29695072 . 0/1:99:255,0,213 . . 6 29694681 rs3734815 A T NON_SYNONYMOUS_CODING HLA-F MODERATE|MISSENSE|aAc/aTc|N353I|442|HLA-F|protein_coding|CODING|ENST00000259951|exon_6_29694660_29695073 . 0/1:99:255,0,213 . . 6 29910371 rs2230954 C T NON_SYNONYMOUS_CODING HLA-A MODERATE|MISSENSE|tCg/tTg|S14L|154|HLA-A|protein_coding|CODING|ENST00000355767|exon_6_29910309_29910403 . 0/1:99:226,0,139 . . 6 29910371 rs2230954 C T NON_SYNONYMOUS_CODING HLA-A MODERATE|MISSENSE|tCg/tTg|S14L|299|HLA-A|protein_coding|CODING|ENST00000376802|exon_6_29910326_29910403 . 0/1:99:226,0,139 . . 6 29910371 rs2230954 C T NON_SYNONYMOUS_CODING HLA-A MODERATE|MISSENSE|tCg/tTg|S14L|365|HLA-A|protein_coding|CODING|ENST00000376809|exon_6_29910309_29910403 . 0/1:99:226,0,139 . . 6 29910371 rs2230954 C T NON_SYNONYMOUS_CODING HLA-A MODERATE|MISSENSE|tCg/tTg|S14L|365|HLA-A|protein_coding|CODING|ENST00000396634|exon_6_29910181_29910403 . 0/1:99:226,0,139 . . 6 29910371 rs2230954 C T NON_SYNONYMOUS_CODING HLA-A MODERATE|MISSENSE|tCg/tTg|S14L|371|HLA-A|protein_coding|CODING|ENST00000376806|exon_6_29910022_29910403 . 0/1:99:226,0,139 . . 6 29910566 rs41545116 G A NON_SYNONYMOUS_CODING HLA-A MODERATE|MISSENSE|Gtg/Atg|V36M|154|HLA-A|protein_coding|CODING|ENST00000355767|exon_6_29910534_29910803 . . . 0/1:64:61,0,222 6 29910566 rs41545116 G A NON_SYNONYMOUS_CODING HLA-A MODERATE|MISSENSE|Gtg/Atg|V36M|299|HLA-A|protein_coding|CODING|ENST00000376802|exon_6_29910534_29910803 . . . 0/1:64:61,0,222 6 29910566 rs41545116 G A NON_SYNONYMOUS_CODING HLA-A MODERATE|MISSENSE|Gtg/Atg|V36M|365|HLA-A|protein_coding|CODING|ENST00000376809|exon_6_29910534_29910803 . . . 0/1:64:61,0,222 6 29910566 rs41545116 G A NON_SYNONYMOUS_CODING HLA-A MODERATE|MISSENSE|Gtg/Atg|V36M|365|HLA-A|protein_coding|CODING|ENST00000396634|exon_6_29910534_29910803 . . . 0/1:64:61,0,222 6 29910566 rs41545116 G A NON_SYNONYMOUS_CODING HLA-A MODERATE|MISSENSE|Gtg/Atg|V36M|371|HLA-A|protein_coding|CODING|ENST00000376806|exon_6_29910534_29910803 . . . 0/1:64:61,0,222 6 29910719 rs2230991 G A NON_SYNONYMOUS_CODING HLA-A MODERATE|MISSENSE|Gag/Aag|E87K|154|HLA-A|protein_coding|CODING|ENST00000355767|exon_6_29910534_29910803 . . . 0/1:99:128,0,174 6 29910719 rs2230991 G A NON_SYNONYMOUS_CODING HLA-A MODERATE|MISSENSE|Gag/Aag|E87K|299|HLA-A|protein_coding|CODING|ENST00000376802|exon_6_29910534_29910803 . . . 0/1:99:128,0,174 6 29910719 rs2230991 G A NON_SYNONYMOUS_CODING HLA-A MODERATE|MISSENSE|Gag/Aag|E87K|365|HLA-A|protein_coding|CODING|ENST00000376809|exon_6_29910534_29910803 . . . 0/1:99:128,0,174 6 29910719 rs2230991 G A NON_SYNONYMOUS_CODING HLA-A MODERATE|MISSENSE|Gag/Aag|E87K|365|HLA-A|protein_coding|CODING|ENST00000396634|exon_6_29910534_29910803 . . . 0/1:99:128,0,174 6 29910719 rs2230991 G A NON_SYNONYMOUS_CODING HLA-A MODERATE|MISSENSE|Gag/Aag|E87K|371|HLA-A|protein_coding|CODING|ENST00000376806|exon_6_29910534_29910803 . . . 0/1:99:128,0,174 6 29910721 rs1059457 G C NON_SYNONYMOUS_CODING HLA-A MODERATE|MISSENSE|gaG/gaC|E87D|154|HLA-A|protein_coding|CODING|ENST00000355767|exon_6_29910534_29910803 . . . 0/1:99:109,0,185 6 29910721 rs1059457 G C NON_SYNONYMOUS_CODING HLA-A MODERATE|MISSENSE|gaG/gaC|E87D|299|HLA-A|protein_coding|CODING|ENST00000376802|exon_6_29910534_29910803 . . . 0/1:99:109,0,185 6 29910721 rs1059457 G C NON_SYNONYMOUS_CODING HLA-A MODERATE|MISSENSE|gaG/gaC|E87D|365|HLA-A|protein_coding|CODING|ENST00000376809|exon_6_29910534_29910803 . . . 0/1:99:109,0,185 6 29910721 rs1059457 G C NON_SYNONYMOUS_CODING HLA-A MODERATE|MISSENSE|gaG/gaC|E87D|365|HLA-A|protein_coding|CODING|ENST00000396634|exon_6_29910534_29910803 . . . 0/1:99:109,0,185 6 29910721 rs1059457 G C NON_SYNONYMOUS_CODING HLA-A MODERATE|MISSENSE|gaG/gaC|E87D|371|HLA-A|protein_coding|CODING|ENST00000376806|exon_6_29910534_29910803 . . . 0/1:99:109,0,185 6 29911098 rs1059488 T C NON_SYNONYMOUS_CODING HLA-A MODERATE|MISSENSE|Ttc/Ctc|F133L|154|HLA-A|protein_coding|CODING|ENST00000355767|exon_6_29911045_29911114 . 1/1:27:112,15,0 . . 6 29911098 rs1059488 T C NON_SYNONYMOUS_CODING HLA-A MODERATE|MISSENSE|Ttc/Ctc|F133L|299|HLA-A|protein_coding|CODING|ENST00000376802|exon_6_29911045_29911320 . 1/1:27:112,15,0 . . 6 29911098 rs1059488 T C NON_SYNONYMOUS_CODING HLA-A MODERATE|MISSENSE|Ttc/Ctc|F133L|365|HLA-A|protein_coding|CODING|ENST00000376809|exon_6_29911045_29911320 . 1/1:27:112,15,0 . . 6 29911098 rs1059488 T C NON_SYNONYMOUS_CODING HLA-A MODERATE|MISSENSE|Ttc/Ctc|F133L|365|HLA-A|protein_coding|CODING|ENST00000396634|exon_6_29911045_29911320 . 1/1:27:112,15,0 . . 6 29911098 rs1059488 T C NON_SYNONYMOUS_CODING HLA-A MODERATE|MISSENSE|Ttc/Ctc|F133L|371|HLA-A|protein_coding|CODING|ENST00000376806|exon_6_29911045_29911320 . 1/1:27:112,15,0 . . 6 29911114 rs3173420 G A NON_SYNONYMOUS_CODING HLA-A MODERATE|MISSENSE|cGg/cAg|R138Q|154|HLA-A|protein_coding|CODING|ENST00000355767|exon_6_29911045_29911114 . 1/1:39:165,21,0 . . 6 29911114 rs3173420 G A NON_SYNONYMOUS_CODING HLA-A MODERATE|MISSENSE|cGg/cAg|R138Q|299|HLA-A|protein_coding|CODING|ENST00000376802|exon_6_29911045_29911320 . 1/1:39:165,21,0 . . 6 29911114 rs3173420 G A NON_SYNONYMOUS_CODING HLA-A MODERATE|MISSENSE|cGg/cAg|R138Q|365|HLA-A|protein_coding|CODING|ENST00000376809|exon_6_29911045_29911320 . 1/1:39:165,21,0 . . 6 29911114 rs3173420 G A NON_SYNONYMOUS_CODING HLA-A MODERATE|MISSENSE|cGg/cAg|R138Q|365|HLA-A|protein_coding|CODING|ENST00000396634|exon_6_29911045_29911320 . 1/1:39:165,21,0 . . 6 29911114 rs3173420 G A NON_SYNONYMOUS_CODING HLA-A MODERATE|MISSENSE|cGg/cAg|R138Q|371|HLA-A|protein_coding|CODING|ENST00000376806|exon_6_29911045_29911320 . 1/1:39:165,21,0 . . 6 29911203 rs1059517 A C NON_SYNONYMOUS_CODING HLA-A MODERATE|MISSENSE|Aag/Cag|K168Q|299|HLA-A|protein_coding|CODING|ENST00000376802|exon_6_29911045_29911320 . 0/1:27:148,0,24 . . 6 29911203 rs1059517 A C NON_SYNONYMOUS_CODING HLA-A MODERATE|MISSENSE|Aag/Cag|K168Q|365|HLA-A|protein_coding|CODING|ENST00000376809|exon_6_29911045_29911320 . 0/1:27:148,0,24 . . 6 29911203 rs1059517 A C NON_SYNONYMOUS_CODING HLA-A MODERATE|MISSENSE|Aag/Cag|K168Q|365|HLA-A|protein_coding|CODING|ENST00000396634|exon_6_29911045_29911320 . 0/1:27:148,0,24 . . 6 29911203 rs1059517 A C NON_SYNONYMOUS_CODING HLA-A MODERATE|MISSENSE|Aag/Cag|K168Q|371|HLA-A|protein_coding|CODING|ENST00000376806|exon_6_29911045_29911320 . 0/1:27:148,0,24 . . 6 29911207 rs1059520 G A NON_SYNONYMOUS_CODING HLA-A MODERATE|MISSENSE|Gca/Aca|A144T|154|HLA-A|protein_coding|CODING|ENST00000355767|exon_6_29911191_29911320 . 0/1:82:79,0,93 . . 6 29911207 rs1059520 G A NON_SYNONYMOUS_CODING HLA-A MODERATE|MISSENSE|cGc/cAc|R169H|299|HLA-A|protein_coding|CODING|ENST00000376802|exon_6_29911045_29911320 . 0/1:82:79,0,93 . . 6 29911207 rs1059520 G A NON_SYNONYMOUS_CODING HLA-A MODERATE|MISSENSE|cGc/cAc|R169H|365|HLA-A|protein_coding|CODING|ENST00000376809|exon_6_29911045_29911320 . 0/1:82:79,0,93 . . 6 29911207 rs1059520 G A NON_SYNONYMOUS_CODING HLA-A MODERATE|MISSENSE|cGc/cAc|R169H|365|HLA-A|protein_coding|CODING|ENST00000396634|exon_6_29911045_29911320 . 0/1:82:79,0,93 . . 6 29911207 rs1059520 G A NON_SYNONYMOUS_CODING HLA-A MODERATE|MISSENSE|cGc/cAc|R169H|371|HLA-A|protein_coding|CODING|ENST00000376806|exon_6_29911045_29911320 . 0/1:82:79,0,93 . . 6 29911222 rs1059535 C T NON_SYNONYMOUS_CODING HLA-A MODERATE|MISSENSE|Ccc/Tcc|P149S|154|HLA-A|protein_coding|CODING|ENST00000355767|exon_6_29911191_29911320 . . 0/1:22:67,0,19 . 6 29911222 rs1059535 C T NON_SYNONYMOUS_CODING HLA-A MODERATE|MISSENSE|gCc/gTc|A174V|299|HLA-A|protein_coding|CODING|ENST00000376802|exon_6_29911045_29911320 . . 0/1:22:67,0,19 . 6 29911222 rs1059535 C T NON_SYNONYMOUS_CODING HLA-A MODERATE|MISSENSE|gCc/gTc|A174V|365|HLA-A|protein_coding|CODING|ENST00000376809|exon_6_29911045_29911320 . . 0/1:22:67,0,19 . 6 29911222 rs1059535 C T NON_SYNONYMOUS_CODING HLA-A MODERATE|MISSENSE|gCc/gTc|A174V|365|HLA-A|protein_coding|CODING|ENST00000396634|exon_6_29911045_29911320 . . 0/1:22:67,0,19 . 6 29911222 rs1059535 C T NON_SYNONYMOUS_CODING HLA-A MODERATE|MISSENSE|gCc/gTc|A174V|371|HLA-A|protein_coding|CODING|ENST00000376806|exon_6_29911045_29911320 . . 0/1:22:67,0,19 . 6 29911225 rs1059536 A G NON_SYNONYMOUS_CODING HLA-A MODERATE|MISSENSE|Atg/Gtg|M150V|154|HLA-A|protein_coding|CODING|ENST00000355767|exon_6_29911191_29911320 . 0/1:53:50,0,85 . . 6 29911225 rs1059536 A G NON_SYNONYMOUS_CODING HLA-A MODERATE|MISSENSE|cAt/cGt|H175R|299|HLA-A|protein_coding|CODING|ENST00000376802|exon_6_29911045_29911320 . 0/1:53:50,0,85 . . 6 29911225 rs1059536 A G NON_SYNONYMOUS_CODING HLA-A MODERATE|MISSENSE|cAt/cGt|H175R|365|HLA-A|protein_coding|CODING|ENST00000376809|exon_6_29911045_29911320 . 0/1:53:50,0,85 . . 6 29911225 rs1059536 A G NON_SYNONYMOUS_CODING HLA-A MODERATE|MISSENSE|cAt/cGt|H175R|365|HLA-A|protein_coding|CODING|ENST00000396634|exon_6_29911045_29911320 . 0/1:53:50,0,85 . . 6 29911225 rs1059536 A G NON_SYNONYMOUS_CODING HLA-A MODERATE|MISSENSE|cAt/cGt|H175R|371|HLA-A|protein_coding|CODING|ENST00000376806|exon_6_29911045_29911320 . 0/1:53:50,0,85 . . 6 29911271 rs3098019 G C NON_SYNONYMOUS_CODING HLA-A MODERATE|MISSENSE|gaG/gaC|E190D|299|HLA-A|protein_coding|CODING|ENST00000376802|exon_6_29911045_29911320 0/1:53:50,0,197 . . . 6 29911271 rs3098019 G C NON_SYNONYMOUS_CODING HLA-A MODERATE|MISSENSE|gaG/gaC|E190D|365|HLA-A|protein_coding|CODING|ENST00000376809|exon_6_29911045_29911320 0/1:53:50,0,197 . . . 6 29911271 rs3098019 G C NON_SYNONYMOUS_CODING HLA-A MODERATE|MISSENSE|gaG/gaC|E190D|365|HLA-A|protein_coding|CODING|ENST00000396634|exon_6_29911045_29911320 0/1:53:50,0,197 . . . 6 29911271 rs3098019 G C NON_SYNONYMOUS_CODING HLA-A MODERATE|MISSENSE|gaG/gaC|E190D|371|HLA-A|protein_coding|CODING|ENST00000376806|exon_6_29911045_29911320 0/1:53:50,0,197 . . . 6 29911272 rs76185201 T G NON_SYNONYMOUS_CODING HLA-A MODERATE|MISSENSE|Tgg/Ggg|W191G|299|HLA-A|protein_coding|CODING|ENST00000376802|exon_6_29911045_29911320 0/1:58:55,0,175 . . . 6 29911272 rs76185201 T G NON_SYNONYMOUS_CODING HLA-A MODERATE|MISSENSE|Tgg/Ggg|W191G|365|HLA-A|protein_coding|CODING|ENST00000376809|exon_6_29911045_29911320 0/1:58:55,0,175 . . . 6 29911272 rs76185201 T G NON_SYNONYMOUS_CODING HLA-A MODERATE|MISSENSE|Tgg/Ggg|W191G|365|HLA-A|protein_coding|CODING|ENST00000396634|exon_6_29911045_29911320 0/1:58:55,0,175 . . . 6 29911272 rs76185201 T G NON_SYNONYMOUS_CODING HLA-A MODERATE|MISSENSE|Tgg/Ggg|W191G|371|HLA-A|protein_coding|CODING|ENST00000376806|exon_6_29911045_29911320 0/1:58:55,0,175 . . . 6 29912087 rs1059632 G T NON_SYNONYMOUS_CODING HLA-A MODERATE|MISSENSE|Gct/Tct|A270S|299|HLA-A|protein_coding|CODING|ENST00000376802|exon_6_29911899_29912174 . 0/1:76:73,0,111 . 0/1:61:58,0,203 6 29912087 rs1059632 G T NON_SYNONYMOUS_CODING HLA-A MODERATE|MISSENSE|Gct/Tct|A270S|365|HLA-A|protein_coding|CODING|ENST00000376809|exon_6_29911899_29912174 . 0/1:76:73,0,111 . 0/1:61:58,0,203 6 29912087 rs1059632 G T NON_SYNONYMOUS_CODING HLA-A MODERATE|MISSENSE|Gct/Tct|A270S|365|HLA-A|protein_coding|CODING|ENST00000396634|exon_6_29911899_29912174 . 0/1:76:73,0,111 . 0/1:61:58,0,203 6 29912087 rs1059632 G T NON_SYNONYMOUS_CODING HLA-A MODERATE|MISSENSE|Gct/Tct|A270S|371|HLA-A|protein_coding|CODING|ENST00000376806|exon_6_29911899_29912174 . 0/1:76:73,0,111 . 0/1:61:58,0,203 6 29912087 rs1059632 G T NON_SYNONYMOUS_CODING HLA-A MODERATE|MISSENSE|Gct/Tct|A58S|114|HLA-A|protein_coding|CODING|ENST00000536480|exon_6_29911899_29912174 . 0/1:76:73,0,111 . 0/1:61:58,0,203 6 29913037 rs1137631 G A NON_SYNONYMOUS_CODING HLA-A MODERATE|MISSENSE|Gtg/Atg|V107M|114|HLA-A|protein_coding|CODING|ENST00000536480|exon_6_29913011_29913058 . 0/1:64:126,0,61 . . 6 29913037 rs1137631 G A NON_SYNONYMOUS_CODING HLA-A MODERATE|MISSENSE|Gtg/Atg|V358M|365|HLA-A|protein_coding|CODING|ENST00000376809|exon_6_29913011_29913058 . 0/1:64:126,0,61 . . 6 29913037 rs1137631 G A NON_SYNONYMOUS_CODING HLA-A MODERATE|MISSENSE|Gtg/Atg|V358M|365|HLA-A|protein_coding|CODING|ENST00000396634|exon_6_29913011_29913058 . 0/1:64:126,0,61 . . 6 29913037 rs1137631 G A NON_SYNONYMOUS_CODING HLA-A MODERATE|MISSENSE|Gtg/Atg|V364M|371|HLA-A|protein_coding|CODING|ENST00000376806|exon_6_29913011_29913058 . 0/1:64:126,0,61 . . 6 30038647 rs9261290 T C NON_SYNONYMOUS_CODING RNF39 MODERATE|MISSENSE|Act/Gct|T224A|251|RNF39|protein_coding|CODING|ENST00000376746|exon_6_30038561_30038842 . . 0/1:99:249,0,255 . 6 30038712 rs9261291 C T NON_SYNONYMOUS_CODING RNF39 MODERATE|MISSENSE|cGt/cAt|R202H|251|RNF39|protein_coding|CODING|ENST00000376746|exon_6_30038561_30038842 . . . 0/1:99:255,0,255 6 30038823 rs73728107 A G NON_SYNONYMOUS_CODING RNF39 MODERATE|MISSENSE|aTt/aCt|I165T|251|RNF39|protein_coding|CODING|ENST00000376746|exon_6_30038561_30038842 . . . 0/1:99:211,0,225 6 30038830 rs9261292 C G NON_SYNONYMOUS_CODING RNF39 MODERATE|MISSENSE|Ggt/Cgt|G163R|251|RNF39|protein_coding|CODING|ENST00000376746|exon_6_30038561_30038842 . . . 0/1:99:216,0,227 6 30039138 rs9261293 T C NON_SYNONYMOUS_CODING RNF39 MODERATE|MISSENSE|gAg/gGg|E338G|420|RNF39|protein_coding|CODING|ENST00000244360|exon_6_30038043_30039468 . 0/1:99:148,0,188 0/1:99:182,0,166 . 6 30039240 rs2301753 G T NON_SYNONYMOUS_CODING RNF39 MODERATE|MISSENSE|gCg/gAg|A304E|354|RNF39|protein_coding|CODING|ENST00000376751|exon_6_30039176_30039468 . . . 0/1:99:127,0,180 6 30039240 rs2301753 G T NON_SYNONYMOUS_CODING RNF39 MODERATE|MISSENSE|gCg/gAg|A304E|420|RNF39|protein_coding|CODING|ENST00000244360|exon_6_30038043_30039468 . . . 0/1:99:127,0,180 6 30039364 rs11753382 C A NON_SYNONYMOUS_CODING RNF39 MODERATE|MISSENSE|Ggc/Tgc|G263C|354|RNF39|protein_coding|CODING|ENST00000376751|exon_6_30039176_30039468 . . . 0/1:89:181,0,86 6 30039364 rs11753382 C A NON_SYNONYMOUS_CODING RNF39 MODERATE|MISSENSE|Ggc/Tgc|G263C|420|RNF39|protein_coding|CODING|ENST00000244360|exon_6_30038043_30039468 . . . 0/1:89:181,0,86 6 30041009 rs2074479 A G NON_SYNONYMOUS_CODING RNF39 MODERATE|MISSENSE|Tcc/Ccc|S203P|354|RNF39|protein_coding|CODING|ENST00000376751|exon_6_30040934_30041025 . . . 0/1:99:246,0,252 6 30041009 rs2074479 A G NON_SYNONYMOUS_CODING RNF39 MODERATE|MISSENSE|Tcc/Ccc|S203P|420|RNF39|protein_coding|CODING|ENST00000244360|exon_6_30040934_30041025 . . . 0/1:99:246,0,252 6 30078275 rs2523989 C T NON_SYNONYMOUS_CODING TRIM31 MODERATE|MISSENSE|Gtt/Att|V232I|425|TRIM31|protein_coding|CODING|ENST00000376728|exon_6_30078225_30078455 . . 0/1:99:222,0,255 . 6 30078275 rs2523989 C T NON_SYNONYMOUS_CODING TRIM31 MODERATE|MISSENSE|Gtt/Att|V232I|425|TRIM31|protein_coding|CODING|ENST00000376734|exon_6_30078225_30078455 . . 0/1:99:222,0,255 . 6 30078275 rs2523989 C T NON_SYNONYMOUS_CODING TRIM31 MODERATE|MISSENSE|Gtt/Att|V232I|425|TRIM31|protein_coding|CODING|ENST00000540829|exon_6_30078225_30078455 . . 0/1:99:222,0,255 . 6 30459165 rs62621992 C T NON_SYNONYMOUS_CODING HLA-E MODERATE|MISSENSE|Ccc/Tcc|P288S|358|HLA-E|protein_coding|CODING|ENST00000376630|exon_6_30458914_30459189 . . . 0/1:99:255,0,178 6 30529622 rs3888778 G A NON_SYNONYMOUS_CODING PRR3 MODERATE|MISSENSE|Ggt/Agt|G126S|253|PRR3|protein_coding|CODING|ENST00000376555|exon_6_30529611_30529901 . . . 0/1:99:134,0,255 6 30529622 rs3888778 G A NON_SYNONYMOUS_CODING PRR3 MODERATE|MISSENSE|Ggt/Agt|G40S|167|PRR3|protein_coding|CODING|ENST00000376557|exon_6_30529611_30529901 . . . 0/1:99:134,0,255 6 30529622 rs3888778 G A NON_SYNONYMOUS_CODING PRR3 MODERATE|MISSENSE|Ggt/Agt|G61S|188|PRR3|protein_coding|CODING|ENST00000376560|exon_6_30529611_30529901 . . . 0/1:99:134,0,255 6 30593485 rs34315095 C G NON_SYNONYMOUS_CODING MRPS18B MODERATE|MISSENSE|Ccc/Gcc|P187A|215|MRPS18B|protein_coding|CODING|ENST00000376508|exon_6_30593279_30594172 . . . 0/1:99:151,0,220 6 30593485 rs34315095 C G NON_SYNONYMOUS_CODING MRPS18B MODERATE|MISSENSE|Ccc/Gcc|P230A|258|MRPS18B|protein_coding|CODING|ENST00000259873|exon_6_30593279_30594172 . . . 0/1:99:151,0,220 6 30652781 rs9262143 C T NON_SYNONYMOUS_CODING PPP1R18 MODERATE|MISSENSE|Ggg/Agg|G339R|613|PPP1R18|protein_coding|CODING|ENST00000274853|exon_6_30652185_30655672 . . 0/1:99:203,0,204 . 6 30652781 rs9262143 C T NON_SYNONYMOUS_CODING PPP1R18 MODERATE|MISSENSE|Ggg/Agg|G339R|613|PPP1R18|protein_coding|CODING|ENST00000399199|exon_6_30652185_30653823 . . 0/1:99:203,0,204 . 6 30672342 rs3130645 A G NON_SYNONYMOUS_CODING MDC1 MODERATE|MISSENSE|Tcc/Ccc|S1106P|1655|MDC1|protein_coding|CODING|ENST00000422104|exon_6_30671398_30672936 . . . 0/1:99:212,0,224 6 30672342 rs3130645 A G NON_SYNONYMOUS_CODING MDC1 MODERATE|MISSENSE|Tcc/Ccc|S1253P|1802|MDC1|protein_coding|CODING|ENST00000429610|exon_6_30671398_30672728 . . . 0/1:99:212,0,224 6 30672342 rs3130645 A G NON_SYNONYMOUS_CODING MDC1 MODERATE|MISSENSE|Tcc/Ccc|S1276P|1825|MDC1|protein_coding|CODING|ENST00000376405|exon_6_30671398_30673875 . . . 0/1:99:212,0,224 6 30672342 rs3130645 A G NON_SYNONYMOUS_CODING MDC1 MODERATE|MISSENSE|Tcc/Ccc|S1540P|2089|MDC1|protein_coding|CODING|ENST00000376406|exon_6_30671398_30673875 . . . 0/1:99:212,0,224 6 30672353 rs9262151 T G NON_SYNONYMOUS_CODING MDC1 MODERATE|MISSENSE|gAg/gCg|E1102A|1655|MDC1|protein_coding|CODING|ENST00000422104|exon_6_30671398_30672936 . 0/1:99:194,0,255 . . 6 30672353 rs9262151 T G NON_SYNONYMOUS_CODING MDC1 MODERATE|MISSENSE|gAg/gCg|E1249A|1802|MDC1|protein_coding|CODING|ENST00000429610|exon_6_30671398_30672728 . 0/1:99:194,0,255 . . 6 30672353 rs9262151 T G NON_SYNONYMOUS_CODING MDC1 MODERATE|MISSENSE|gAg/gCg|E1272A|1825|MDC1|protein_coding|CODING|ENST00000376405|exon_6_30671398_30673875 . 0/1:99:194,0,255 . . 6 30672353 rs9262151 T G NON_SYNONYMOUS_CODING MDC1 MODERATE|MISSENSE|gAg/gCg|E1536A|2089|MDC1|protein_coding|CODING|ENST00000376406|exon_6_30671398_30673875 . 0/1:99:194,0,255 . . 6 30673013 rs61733213 A G NON_SYNONYMOUS_CODING MDC1 MODERATE|MISSENSE|aTg/aCg|M1052T|1825|MDC1|protein_coding|CODING|ENST00000376405|exon_6_30671398_30673875 . . . 0/1:99:160,0,202 6 30673013 rs61733213 A G NON_SYNONYMOUS_CODING MDC1 MODERATE|MISSENSE|aTg/aCg|M1316T|2089|MDC1|protein_coding|CODING|ENST00000376406|exon_6_30671398_30673875 . . . 0/1:99:160,0,202 6 30673163 rs115919262 T G NON_SYNONYMOUS_CODING MDC1 MODERATE|MISSENSE|tAt/tCt|Y1002S|1825|MDC1|protein_coding|CODING|ENST00000376405|exon_6_30671398_30673875 . . . 0/1:99:255,0,170 6 30673163 rs115919262 T G NON_SYNONYMOUS_CODING MDC1 MODERATE|MISSENSE|tAt/tCt|Y1266S|2089|MDC1|protein_coding|CODING|ENST00000376406|exon_6_30671398_30673875 . . . 0/1:99:255,0,170 6 30673163 rs115919262 T G NON_SYNONYMOUS_CODING MDC1 MODERATE|MISSENSE|tAt/tCt|Y873S|1655|MDC1|protein_coding|CODING|ENST00000422104|exon_6_30673060_30673875 . . . 0/1:99:255,0,170 6 30673422 rs9461623 A G NON_SYNONYMOUS_CODING MDC1 MODERATE|MISSENSE|Tct/Cct|S1180P|2089|MDC1|protein_coding|CODING|ENST00000376406|exon_6_30671398_30673875 . . . 0/1:99:218,0,146 6 30673422 rs9461623 A G NON_SYNONYMOUS_CODING MDC1 MODERATE|MISSENSE|Tct/Cct|S787P|1655|MDC1|protein_coding|CODING|ENST00000422104|exon_6_30673060_30673875 . . . 0/1:99:218,0,146 6 30673422 rs9461623 A G NON_SYNONYMOUS_CODING MDC1 MODERATE|MISSENSE|Tct/Cct|S916P|1825|MDC1|protein_coding|CODING|ENST00000376405|exon_6_30671398_30673875 . . . 0/1:99:218,0,146 6 30680562 rs28986465 G A NON_SYNONYMOUS_CODING MDC1 MODERATE|MISSENSE|cCa/cTa|P258L|1655|MDC1|protein_coding|CODING|ENST00000422104|exon_6_30679651_30681131 . . . 0/1:99:255,0,210 6 30680562 rs28986465 G A NON_SYNONYMOUS_CODING MDC1 MODERATE|MISSENSE|cCa/cTa|P386L|1802|MDC1|protein_coding|CODING|ENST00000429610|exon_6_30679651_30681131 . . . 0/1:99:255,0,210 6 30680562 rs28986465 G A NON_SYNONYMOUS_CODING MDC1 MODERATE|MISSENSE|cCa/cTa|P386L|1825|MDC1|protein_coding|CODING|ENST00000376405|exon_6_30679651_30681131 . . . 0/1:99:255,0,210 6 30680562 rs28986465 G A NON_SYNONYMOUS_CODING MDC1 MODERATE|MISSENSE|cCa/cTa|P386L|2089|MDC1|protein_coding|CODING|ENST00000376406|exon_6_30679651_30681131 . . . 0/1:99:255,0,210 6 30680608 rs2075015 C T NON_SYNONYMOUS_CODING MDC1 MODERATE|MISSENSE|Gag/Aag|E243K|1655|MDC1|protein_coding|CODING|ENST00000422104|exon_6_30679651_30681131 . . . 0/1:99:186,0,255 6 30680608 rs2075015 C T NON_SYNONYMOUS_CODING MDC1 MODERATE|MISSENSE|Gag/Aag|E371K|1802|MDC1|protein_coding|CODING|ENST00000429610|exon_6_30679651_30681131 . . . 0/1:99:186,0,255 6 30680608 rs2075015 C T NON_SYNONYMOUS_CODING MDC1 MODERATE|MISSENSE|Gag/Aag|E371K|1825|MDC1|protein_coding|CODING|ENST00000376405|exon_6_30679651_30681131 . . . 0/1:99:186,0,255 6 30680608 rs2075015 C T NON_SYNONYMOUS_CODING MDC1 MODERATE|MISSENSE|Gag/Aag|E371K|2089|MDC1|protein_coding|CODING|ENST00000376406|exon_6_30679651_30681131 . . . 0/1:99:186,0,255 6 30867830 rs6933271 T G NON_SYNONYMOUS_CODING DDR1 MODERATE|MISSENSE|Tgg/Ggg|W433G|441|DDR1|protein_coding|CODING|ENST00000361741|exon_6_30867825_30867931 . . . 0/1:99:198,0,255 6 30920124 rs3132580 G A NON_SYNONYMOUS_CODING DPCR1 MODERATE|MISSENSE|Gag/Aag|E1295K|1393|DPCR1|protein_coding|CODING|ENST00000462446|exon_6_30916324_30920276 . . 0/1:99:255,0,255 . 6 30920124 rs3132580 G A NON_SYNONYMOUS_CODING DPCR1 MODERATE|MISSENSE|Gag/Aag|E137K|235|DPCR1|protein_coding|CODING|ENST00000304311|exon_6_30916324_30920276 . . 0/1:99:255,0,255 . 6 30920124 rs3132580 G A NON_SYNONYMOUS_CODING DPCR1 MODERATE|MISSENSE|Gag/Aag|E419K|517|DPCR1|protein_coding|CODING|ENST00000450344|exon_6_30919816_30920276 . . 0/1:99:255,0,255 . 6 30955010 rs41288689 C T NON_SYNONYMOUS_CODING MUC21 MODERATE|MISSENSE|aCc/aTc|T203I|416|MUC21|protein_coding|CODING|ENST00000450707|exon_6_30954955_30955458 . . . 0/1:99:159,0,166 6 30955010 rs41288689 C T NON_SYNONYMOUS_CODING MUC21 MODERATE|MISSENSE|aCc/aTc|T353I|566|MUC21|protein_coding|CODING|ENST00000376296|exon_6_30954014_30955458 . . . 0/1:99:159,0,166 6 30955016 rs139878195 G A NON_SYNONYMOUS_CODING MUC21 MODERATE|MISSENSE|aGt/aAt|S205N|416|MUC21|protein_coding|CODING|ENST00000450707|exon_6_30954955_30955458 . . 0/1:99:159,0,209 . 6 30955016 rs139878195 G A NON_SYNONYMOUS_CODING MUC21 MODERATE|MISSENSE|aGt/aAt|S355N|566|MUC21|protein_coding|CODING|ENST00000376296|exon_6_30954014_30955458 . . 0/1:99:159,0,209 . 6 30993813 rs62399429 G A NON_SYNONYMOUS_CODING MUC22 MODERATE|MISSENSE|aGc/aAc|S202N|1773|MUC22|protein_coding|CODING|ENST00000561890|exon_6_30993279_30997877 . . . 0/1:99:160,0,185 6 30993866 rs62399430 A T NON_SYNONYMOUS_CODING MUC22 MODERATE|MISSENSE|Act/Tct|T220S|1773|MUC22|protein_coding|CODING|ENST00000561890|exon_6_30993279_30997877 . . . 0/1:99:130,0,168 6 30993880 rs62399431 G C NON_SYNONYMOUS_CODING MUC22 MODERATE|MISSENSE|gaG/gaC|E224D|1773|MUC22|protein_coding|CODING|ENST00000561890|exon_6_30993279_30997877 . . . 0/1:99:134,0,154 6 30994052 rs72847018 A T NON_SYNONYMOUS_CODING MUC22 MODERATE|MISSENSE|Att/Ttt|I282F|1773|MUC22|protein_coding|CODING|ENST00000561890|exon_6_30993279_30997877 . 0/1:99:255,0,168 . . 6 30994248 rs28360986 C G NON_SYNONYMOUS_CODING MUC22 MODERATE|MISSENSE|aCc/aGc|T347S|1773|MUC22|protein_coding|CODING|ENST00000561890|exon_6_30993279_30997877 . 0/1:99:168,0,255 0/1:99:181,0,234 . 6 30994253 rs28360987 G A NON_SYNONYMOUS_CODING MUC22 MODERATE|MISSENSE|Gtc/Atc|V349I|1773|MUC22|protein_coding|CODING|ENST00000561890|exon_6_30993279_30997877 . 0/1:99:129,0,229 0/1:99:156,0,255 . 6 30994470 rs116633440 C G NON_SYNONYMOUS_CODING MUC22 MODERATE|MISSENSE|aCc/aGc|T421S|1773|MUC22|protein_coding|CODING|ENST00000561890|exon_6_30993279_30997877 . . . 1/1:63:255,33,0 6 30994617 rs115767504 C G NON_SYNONYMOUS_CODING MUC22 MODERATE|MISSENSE|tCt/tGt|S470C|1773|MUC22|protein_coding|CODING|ENST00000561890|exon_6_30993279_30997877 . . . 1/1:81:255,42,0 6 30995178 rs111413526 C T NON_SYNONYMOUS_CODING MUC22 MODERATE|MISSENSE|aCa/aTa|T657I|1773|MUC22|protein_coding|CODING|ENST00000561890|exon_6_30993279_30997877 . . . 0/1:99:118,0,238 6 30995187 rs62399443 T C NON_SYNONYMOUS_CODING MUC22 MODERATE|MISSENSE|aTc/aCc|I660T|1773|MUC22|protein_coding|CODING|ENST00000561890|exon_6_30993279_30997877 . . . 0/1:99:134,0,199 6 30995297 rs62401664 A G NON_SYNONYMOUS_CODING MUC22 MODERATE|MISSENSE|Ata/Gta|I697V|1773|MUC22|protein_coding|CODING|ENST00000561890|exon_6_30993279_30997877 . . . 0/1:99:151,0,255 6 30995532 rs62401665 T C NON_SYNONYMOUS_CODING MUC22 MODERATE|MISSENSE|aTg/aCg|M775T|1773|MUC22|protein_coding|CODING|ENST00000561890|exon_6_30993279_30997877 . . . 0/1:99:255,0,212 6 30996132 rs12665700 C T NON_SYNONYMOUS_CODING MUC22 MODERATE|MISSENSE|aCt/aTt|T975I|1773|MUC22|protein_coding|CODING|ENST00000561890|exon_6_30993279_30997877 . . . 0/1:99:229,0,253 6 30996509 rs35464561 G A NON_SYNONYMOUS_CODING MUC22 MODERATE|MISSENSE|Gaa/Aaa|E1101K|1773|MUC22|protein_coding|CODING|ENST00000561890|exon_6_30993279_30997877 . . . 0/1:99:104,0,255 6 30996650 . A G NON_SYNONYMOUS_CODING MUC22 MODERATE|MISSENSE|Acc/Gcc|T1148A|1773|MUC22|protein_coding|CODING|ENST00000561890|exon_6_30993279_30997877 . . . 0/1:77:74,0,229 6 30996791 rs201596883 C A NON_SYNONYMOUS_CODING MUC22 MODERATE|MISSENSE|Ctc/Atc|L1195I|1773|MUC22|protein_coding|CODING|ENST00000561890|exon_6_30993279_30997877 . . . 0/1:80:77,0,255 6 30996959 rs200777418 G A NON_SYNONYMOUS_CODING MUC22 MODERATE|MISSENSE|Gaa/Aaa|E1251K|1773|MUC22|protein_coding|CODING|ENST00000561890|exon_6_30993279_30997877 . . . 0/1:73:70,0,255 6 30997334 rs11756038 A G NON_SYNONYMOUS_CODING MUC22 MODERATE|MISSENSE|Act/Gct|T1376A|1773|MUC22|protein_coding|CODING|ENST00000561890|exon_6_30993279_30997877 . . . 0/1:99:249,0,255 6 30997352 rs11756039 A G NON_SYNONYMOUS_CODING MUC22 MODERATE|MISSENSE|Agc/Ggc|S1382G|1773|MUC22|protein_coding|CODING|ENST00000561890|exon_6_30993279_30997877 . . . 0/1:99:240,0,247 6 30997824 rs12110785 T C NON_SYNONYMOUS_CODING MUC22 MODERATE|MISSENSE|cTc/cCc|L1539P|1773|MUC22|protein_coding|CODING|ENST00000561890|exon_6_30993279_30997877 . . . 0/1:99:175,0,185 6 31079264 rs2233984 C T NON_SYNONYMOUS_CODING C6orf15 MODERATE|MISSENSE|gGt/gAt|G291D|325|C6orf15|protein_coding|CODING|ENST00000259870|exon_6_31079000_31080068 0/1:99:234,0,235 . . . 6 31079703 rs2233978 C G NON_SYNONYMOUS_CODING C6orf15 MODERATE|MISSENSE|Gct/Cct|A145P|325|C6orf15|protein_coding|CODING|ENST00000259870|exon_6_31079000_31080068 0/1:99:153,0,211 0/1:99:250,0,101 . . 6 31079894 rs2233977 A G NON_SYNONYMOUS_CODING C6orf15 MODERATE|MISSENSE|gTg/gCg|V81A|325|C6orf15|protein_coding|CODING|ENST00000259870|exon_6_31079000_31080068 0/1:99:221,0,218 1/1:99:255,66,0 0/1:99:255,0,180 . 6 31079994 rs2233976 C T NON_SYNONYMOUS_CODING C6orf15 MODERATE|MISSENSE|Gga/Aga|G48R|325|C6orf15|protein_coding|CODING|ENST00000259870|exon_6_31079000_31080068 0/1:99:253,0,209 . . 0/1:99:222,0,255 6 31084142 . C T NON_SYNONYMOUS_CODING CDSN MODERATE|MISSENSE|aGt/aAt|S417N|529|CDSN|protein_coding|CODING|ENST00000376288|exon_6_31082867_31085306 . . 0/1:99:255,0,255 . 6 31084942 . GCTTC GC CODON_CHANGE_PLUS_CODON_DELETION CDSN MODERATE||ggaagc/ggc|GS149G|529|CDSN|protein_coding|CODING|ENST00000376288|exon_6_31082867_31085306 . 1/1:99:255,54,0 1/1:87:255,45,0 . 6 31088145 rs3095318 T A NON_SYNONYMOUS_CODING CDSN MODERATE|MISSENSE|Atg/Ttg|M18L|529|CDSN|protein_coding|CODING|ENST00000376288|exon_6_31088112_31088223 . 1/1:99:255,90,0 1/1:99:255,69,0 . 6 31106065 rs2233950 C T NON_SYNONYMOUS_CODING PSORS1C2 MODERATE|MISSENSE|gGc/gAc|G25D|136|PSORS1C2|protein_coding|CODING|ENST00000259845|exon_6_31105313_31106083 . . . 0/1:99:121,0,142 6 31106459 rs1265097 C A NON_SYNONYMOUS_CODING PSORS1C1 MODERATE|MISSENSE|Ccc/Acc|P24T|152|PSORS1C1|protein_coding|CODING|ENST00000259881|exon_6_31106433_31106556 0/1:99:103,0,204 . . 1/1:87:255,45,0 6 31106516 rs9501057 C T NON_SYNONYMOUS_CODING PSORS1C1 MODERATE|MISSENSE|Cct/Tct|P43S|152|PSORS1C1|protein_coding|CODING|ENST00000259881|exon_6_31106433_31106556 . 0/1:99:226,0,138 . . 6 31111174 rs130074 C A NON_SYNONYMOUS_CODING CCHCR1 MODERATE|MISSENSE|caG/caT|Q586H|729|CCHCR1|protein_coding|CODING|ENST00000396263|exon_6_31111039_31111190 . 0/1:99:242,0,255 . . 6 31111174 rs130074 C A NON_SYNONYMOUS_CODING CCHCR1 MODERATE|MISSENSE|caG/caT|Q639H|768|CCHCR1|protein_coding|CODING|ENST00000440185|exon_6_31111039_31111190 . 0/1:99:242,0,255 . . 6 31111174 rs130074 C A NON_SYNONYMOUS_CODING CCHCR1 MODERATE|MISSENSE|caG/caT|Q639H|782|CCHCR1|protein_coding|CODING|ENST00000376266|exon_6_31111039_31111190 . 0/1:99:242,0,255 . . 6 31111174 rs130074 C A NON_SYNONYMOUS_CODING CCHCR1 MODERATE|MISSENSE|caG/caT|Q692H|835|CCHCR1|protein_coding|CODING|ENST00000451521|exon_6_31111039_31111190 . 0/1:99:242,0,255 . . 6 31111174 rs130074 C A NON_SYNONYMOUS_CODING CCHCR1 MODERATE|MISSENSE|caG/caT|Q728H|871|CCHCR1|protein_coding|CODING|ENST00000396268|exon_6_31111039_31111190 . 0/1:99:242,0,255 . . 6 31112484 rs130072 C T NON_SYNONYMOUS_CODING CCHCR1 MODERATE|MISSENSE|cGg/cAg|R574Q|729|CCHCR1|protein_coding|CODING|ENST00000396263|exon_6_31112464_31112565 0/1:99:198,0,186 . . 0/1:99:255,0,217 6 31112484 rs130072 C T NON_SYNONYMOUS_CODING CCHCR1 MODERATE|MISSENSE|cGg/cAg|R627Q|768|CCHCR1|protein_coding|CODING|ENST00000440185|exon_6_31112464_31112565 0/1:99:198,0,186 . . 0/1:99:255,0,217 6 31112484 rs130072 C T NON_SYNONYMOUS_CODING CCHCR1 MODERATE|MISSENSE|cGg/cAg|R627Q|782|CCHCR1|protein_coding|CODING|ENST00000376266|exon_6_31112464_31112565 0/1:99:198,0,186 . . 0/1:99:255,0,217 6 31112484 rs130072 C T NON_SYNONYMOUS_CODING CCHCR1 MODERATE|MISSENSE|cGg/cAg|R680Q|835|CCHCR1|protein_coding|CODING|ENST00000451521|exon_6_31112464_31112565 0/1:99:198,0,186 . . 0/1:99:255,0,217 6 31112484 rs130072 C T NON_SYNONYMOUS_CODING CCHCR1 MODERATE|MISSENSE|cGg/cAg|R716Q|871|CCHCR1|protein_coding|CODING|ENST00000396268|exon_6_31112464_31112565 0/1:99:198,0,186 . . 0/1:99:255,0,217 6 31118898 rs11540822 A T NON_SYNONYMOUS_CODING CCHCR1 MODERATE|MISSENSE|cTg/cAg|L143Q|158|CCHCR1|protein_coding|CODING|ENST00000508683|exon_6_31118847_31118899 0/1:99:234,0,255 . . 0/1:99:253,0,140 6 31118898 rs11540822 A T NON_SYNONYMOUS_CODING CCHCR1 MODERATE|MISSENSE|cTg/cAg|L143Q|190|CCHCR1|protein_coding|CODING|ENST00000448141|exon_6_31118752_31118899 0/1:99:234,0,255 . . 0/1:99:253,0,140 6 31118898 rs11540822 A T NON_SYNONYMOUS_CODING CCHCR1 MODERATE|MISSENSE|cTg/cAg|L179Q|187|CCHCR1|protein_coding|CODING|ENST00000448162|exon_6_31118869_31118899 0/1:99:234,0,255 . . 0/1:99:253,0,140 6 31118898 rs11540822 A T NON_SYNONYMOUS_CODING CCHCR1 MODERATE|MISSENSE|cTg/cAg|L179Q|729|CCHCR1|protein_coding|CODING|ENST00000396263|exon_6_31118736_31118899 0/1:99:234,0,255 . . 0/1:99:253,0,140 6 31118898 rs11540822 A T NON_SYNONYMOUS_CODING CCHCR1 MODERATE|MISSENSE|cTg/cAg|L179Q|768|CCHCR1|protein_coding|CODING|ENST00000440185|exon_6_31118736_31118899 0/1:99:234,0,255 . . 0/1:99:253,0,140 6 31118898 rs11540822 A T NON_SYNONYMOUS_CODING CCHCR1 MODERATE|MISSENSE|cTg/cAg|L179Q|782|CCHCR1|protein_coding|CODING|ENST00000376266|exon_6_31118736_31118899 0/1:99:234,0,255 . . 0/1:99:253,0,140 6 31118898 rs11540822 A T NON_SYNONYMOUS_CODING CCHCR1 MODERATE|MISSENSE|cTg/cAg|L232Q|835|CCHCR1|protein_coding|CODING|ENST00000451521|exon_6_31118736_31118899 0/1:99:234,0,255 . . 0/1:99:253,0,140 6 31118898 rs11540822 A T NON_SYNONYMOUS_CODING CCHCR1 MODERATE|MISSENSE|cTg/cAg|L268Q|871|CCHCR1|protein_coding|CODING|ENST00000396268|exon_6_31118736_31118899 0/1:99:234,0,255 . . 0/1:99:253,0,140 6 31129310 rs7750641 C T NON_SYNONYMOUS_CODING TCF19 MODERATE|MISSENSE|Ccc/Tcc|P109S|345|TCF19|protein_coding|CODING|ENST00000376255|exon_6_31129224_31129782 . . 0/1:99:127,0,255 . 6 31129310 rs7750641 C T NON_SYNONYMOUS_CODING TCF19 MODERATE|MISSENSE|Ccc/Tcc|P109S|345|TCF19|protein_coding|CODING|ENST00000376257|exon_6_31129224_31129782 . . 0/1:99:127,0,255 . 6 31129310 rs7750641 C T NON_SYNONYMOUS_CODING TCF19 MODERATE|MISSENSE|Ccc/Tcc|P29S|217|TCF19|protein_coding|CODING|ENST00000542218|exon_6_31129226_31129782 . . 0/1:99:127,0,255 . 6 31129707 rs2073724 C T NON_SYNONYMOUS_CODING TCF19 MODERATE|MISSENSE|cCt/cTt|P161L|217|TCF19|protein_coding|CODING|ENST00000542218|exon_6_31129226_31129782 0/1:99:255,0,120 . . 0/1:99:187,0,201 6 31129707 rs2073724 C T NON_SYNONYMOUS_CODING TCF19 MODERATE|MISSENSE|cCt/cTt|P241L|345|TCF19|protein_coding|CODING|ENST00000376255|exon_6_31129224_31129782 0/1:99:255,0,120 . . 0/1:99:187,0,201 6 31129707 rs2073724 C T NON_SYNONYMOUS_CODING TCF19 MODERATE|MISSENSE|cCt/cTt|P241L|345|TCF19|protein_coding|CODING|ENST00000376257|exon_6_31129224_31129782 0/1:99:255,0,120 . . 0/1:99:187,0,201 6 31236854 rs1049709 T C NON_SYNONYMOUS_CODING HLA-C MODERATE|MISSENSE|Acc/Gcc|T397A|397|HLA-C|protein_coding|CODING|ENST00000396254|exon_6_31236526_31236950 . . 0/1:99:237,0,245 . 6 31237862 rs9264621 T C NON_SYNONYMOUS_CODING HLA-C MODERATE|MISSENSE|gAg/gGg|E299G|366|HLA-C|protein_coding|CODING|ENST00000376228|exon_6_31237743_31237862 . 1/1:45:145,24,0 . 1/1:35:190,19,0 6 31237862 rs9264621 T C NON_SYNONYMOUS_CODING HLA-C MODERATE|MISSENSE|gAg/gGg|E299G|372|HLA-C|protein_coding|CODING|ENST00000383329|exon_6_31237743_31237862 . 1/1:45:145,24,0 . 1/1:35:190,19,0 6 31237862 rs9264621 T C NON_SYNONYMOUS_CODING HLA-C MODERATE|MISSENSE|gAg/gGg|E299G|397|HLA-C|protein_coding|CODING|ENST00000396254|exon_6_31237714_31237862 . 1/1:45:145,24,0 . 1/1:35:190,19,0 6 31237862 rs9264621 T C NON_SYNONYMOUS_CODING HLA-C MODERATE|MISSENSE|gAg/gGg|E336G|403|HLA-C|protein_coding|CODING|ENST00000539307|exon_6_31237743_31237862 . 1/1:45:145,24,0 . 1/1:35:190,19,0 6 31237991 rs2308628 G T NON_SYNONYMOUS_CODING HLA-C MODERATE|MISSENSE|agC/agA|S297R|366|HLA-C|protein_coding|CODING|ENST00000376228|exon_6_31237987_31238262 . 1/1:16:68,9,0 . . 6 31237991 rs2308628 G T NON_SYNONYMOUS_CODING HLA-C MODERATE|MISSENSE|agC/agA|S297R|372|HLA-C|protein_coding|CODING|ENST00000383329|exon_6_31237987_31238262 . 1/1:16:68,9,0 . . 6 31237991 rs2308628 G T NON_SYNONYMOUS_CODING HLA-C MODERATE|MISSENSE|agC/agA|S297R|397|HLA-C|protein_coding|CODING|ENST00000396254|exon_6_31237987_31238262 . 1/1:16:68,9,0 . . 6 31237991 rs2308628 G T NON_SYNONYMOUS_CODING HLA-C MODERATE|MISSENSE|agC/agA|S334R|403|HLA-C|protein_coding|CODING|ENST00000539307|exon_6_31237987_31238262 . 1/1:16:68,9,0 . . 6 31238068 rs1050276 C T NON_SYNONYMOUS_CODING HLA-C MODERATE|MISSENSE|Gtg/Atg|V272M|366|HLA-C|protein_coding|CODING|ENST00000376228|exon_6_31237987_31238262 0/1:65:117,0,62 . . . 6 31238068 rs1050276 C T NON_SYNONYMOUS_CODING HLA-C MODERATE|MISSENSE|Gtg/Atg|V272M|372|HLA-C|protein_coding|CODING|ENST00000383329|exon_6_31237987_31238262 0/1:65:117,0,62 . . . 6 31238068 rs1050276 C T NON_SYNONYMOUS_CODING HLA-C MODERATE|MISSENSE|Gtg/Atg|V272M|397|HLA-C|protein_coding|CODING|ENST00000396254|exon_6_31237987_31238262 0/1:65:117,0,62 . . . 6 31238068 rs1050276 C T NON_SYNONYMOUS_CODING HLA-C MODERATE|MISSENSE|Gtg/Atg|V309M|403|HLA-C|protein_coding|CODING|ENST00000539307|exon_6_31237987_31238262 0/1:65:117,0,62 . . . 6 31238868 rs1131103 C T NON_SYNONYMOUS_CODING HLA-C MODERATE|MISSENSE|Gag/Aag|E201K|366|HLA-C|protein_coding|CODING|ENST00000376228|exon_6_31238850_31239125 . 1/1:51:228,27,0 . 0/1:99:129,0,226 6 31238868 rs1131103 C T NON_SYNONYMOUS_CODING HLA-C MODERATE|MISSENSE|Gag/Aag|E201K|372|HLA-C|protein_coding|CODING|ENST00000383329|exon_6_31238850_31239125 . 1/1:51:228,27,0 . 0/1:99:129,0,226 6 31238868 rs1131103 C T NON_SYNONYMOUS_CODING HLA-C MODERATE|MISSENSE|Gag/Aag|E201K|397|HLA-C|protein_coding|CODING|ENST00000396254|exon_6_31238850_31239125 . 1/1:51:228,27,0 . 0/1:99:129,0,226 6 31238868 rs1131103 C T NON_SYNONYMOUS_CODING HLA-C MODERATE|MISSENSE|Gag/Aag|E238K|403|HLA-C|protein_coding|CODING|ENST00000539307|exon_6_31238850_31239125 . 1/1:51:228,27,0 . 0/1:99:129,0,226 6 31238942 rs2308590 G T,A NON_SYNONYMOUS_CODING HLA-C MODERATE|MISSENSE|gCg/gAg|A176E|366|HLA-C|protein_coding|CODING|ENST00000376228|exon_6_31238850_31239125 1/1:69:184,36,0,.,.,. 1/1:51:134,27,0,.,.,. 0/1:55:52,0,186,.,.,. 1/1:57:125,46,16,109,0,97 6 31238942 rs2308590 G T,A NON_SYNONYMOUS_CODING HLA-C MODERATE|MISSENSE|gCg/gAg|A176E|372|HLA-C|protein_coding|CODING|ENST00000383329|exon_6_31238850_31239125 1/1:69:184,36,0,.,.,. 1/1:51:134,27,0,.,.,. 0/1:55:52,0,186,.,.,. 1/1:57:125,46,16,109,0,97 6 31238942 rs2308590 G T,A NON_SYNONYMOUS_CODING HLA-C MODERATE|MISSENSE|gCg/gAg|A176E|397|HLA-C|protein_coding|CODING|ENST00000396254|exon_6_31238850_31239125 1/1:69:184,36,0,.,.,. 1/1:51:134,27,0,.,.,. 0/1:55:52,0,186,.,.,. 1/1:57:125,46,16,109,0,97 6 31238942 rs2308590 G T,A NON_SYNONYMOUS_CODING HLA-C MODERATE|MISSENSE|gCg/gAg|A213E|403|HLA-C|protein_coding|CODING|ENST00000539307|exon_6_31238850_31239125 1/1:69:184,36,0,.,.,. 1/1:51:134,27,0,.,.,. 0/1:55:52,0,186,.,.,. 1/1:57:125,46,16,109,0,97 6 31239006 rs76907552 G T NON_SYNONYMOUS_CODING HLA-C MODERATE|MISSENSE|Cgc/Agc|R155S|366|HLA-C|protein_coding|CODING|ENST00000376228|exon_6_31238850_31239125 0/1:67:64,0,155 . . . 6 31239006 rs76907552 G T NON_SYNONYMOUS_CODING HLA-C MODERATE|MISSENSE|Cgc/Agc|R155S|372|HLA-C|protein_coding|CODING|ENST00000383329|exon_6_31238850_31239125 0/1:67:64,0,155 . . . 6 31239006 rs76907552 G T NON_SYNONYMOUS_CODING HLA-C MODERATE|MISSENSE|Cgc/Agc|R155S|397|HLA-C|protein_coding|CODING|ENST00000396254|exon_6_31238850_31239125 0/1:67:64,0,155 . . . 6 31239006 rs76907552 G T NON_SYNONYMOUS_CODING HLA-C MODERATE|MISSENSE|Cgc/Agc|R192S|403|HLA-C|protein_coding|CODING|ENST00000539307|exon_6_31238850_31239125 0/1:67:64,0,155 . . . 6 31239057 rs2308575 C T NON_SYNONYMOUS_CODING HLA-C MODERATE|MISSENSE|Gac/Aac|D138N|366|HLA-C|protein_coding|CODING|ENST00000376228|exon_6_31238850_31239125 . 1/1:63:173,33,0 . 0/1:50:84,0,47 6 31239057 rs2308575 C T NON_SYNONYMOUS_CODING HLA-C MODERATE|MISSENSE|Gac/Aac|D138N|372|HLA-C|protein_coding|CODING|ENST00000383329|exon_6_31238850_31239125 . 1/1:63:173,33,0 . 0/1:50:84,0,47 6 31239057 rs2308575 C T NON_SYNONYMOUS_CODING HLA-C MODERATE|MISSENSE|Gac/Aac|D138N|397|HLA-C|protein_coding|CODING|ENST00000396254|exon_6_31238850_31239125 . 1/1:63:173,33,0 . 0/1:50:84,0,47 6 31239057 rs2308575 C T NON_SYNONYMOUS_CODING HLA-C MODERATE|MISSENSE|Gac/Aac|D175N|403|HLA-C|protein_coding|CODING|ENST00000539307|exon_6_31238850_31239125 . 1/1:63:173,33,0 . 0/1:50:84,0,47 6 31239060 rs2308574 A G NON_SYNONYMOUS_CODING HLA-C MODERATE|MISSENSE|Tat/Cat|Y137H|366|HLA-C|protein_coding|CODING|ENST00000376228|exon_6_31238850_31239125 0/1:78:75,0,160 . . . 6 31239060 rs2308574 A G NON_SYNONYMOUS_CODING HLA-C MODERATE|MISSENSE|Tat/Cat|Y137H|372|HLA-C|protein_coding|CODING|ENST00000383329|exon_6_31238850_31239125 0/1:78:75,0,160 . . . 6 31239060 rs2308574 A G NON_SYNONYMOUS_CODING HLA-C MODERATE|MISSENSE|Tat/Cat|Y137H|397|HLA-C|protein_coding|CODING|ENST00000396254|exon_6_31238850_31239125 0/1:78:75,0,160 . . . 6 31239060 rs2308574 A G NON_SYNONYMOUS_CODING HLA-C MODERATE|MISSENSE|Tat/Cat|Y174H|403|HLA-C|protein_coding|CODING|ENST00000539307|exon_6_31238850_31239125 0/1:78:75,0,160 . . . 6 31239449 rs28626310 C G NON_SYNONYMOUS_CODING HLA-C MODERATE|MISSENSE|aaG/aaC|K127N|403|HLA-C|protein_coding|CODING|ENST00000539307|exon_6_31239376_31239703 . . 0/1:99:102,0,205 . 6 31239449 rs28626310 C G NON_SYNONYMOUS_CODING HLA-C MODERATE|MISSENSE|aaG/aaC|K90N|366|HLA-C|protein_coding|CODING|ENST00000376228|exon_6_31239376_31239645 . . 0/1:99:102,0,205 . 6 31239449 rs28626310 C G NON_SYNONYMOUS_CODING HLA-C MODERATE|MISSENSE|aaG/aaC|K90N|372|HLA-C|protein_coding|CODING|ENST00000383329|exon_6_31239376_31239645 . . 0/1:99:102,0,205 . 6 31239449 rs28626310 C G NON_SYNONYMOUS_CODING HLA-C MODERATE|MISSENSE|aaG/aaC|K90N|397|HLA-C|protein_coding|CODING|ENST00000396254|exon_6_31239376_31239645 . . 0/1:99:102,0,205 . 6 31239543 rs1050428 C T NON_SYNONYMOUS_CODING HLA-C MODERATE|MISSENSE|cGg/cAg|R59Q|366|HLA-C|protein_coding|CODING|ENST00000376228|exon_6_31239376_31239645 . 1/1:99:255,69,0 . 0/1:99:189,0,100 6 31239543 rs1050428 C T NON_SYNONYMOUS_CODING HLA-C MODERATE|MISSENSE|cGg/cAg|R59Q|372|HLA-C|protein_coding|CODING|ENST00000383329|exon_6_31239376_31239645 . 1/1:99:255,69,0 . 0/1:99:189,0,100 6 31239543 rs1050428 C T NON_SYNONYMOUS_CODING HLA-C MODERATE|MISSENSE|cGg/cAg|R59Q|397|HLA-C|protein_coding|CODING|ENST00000396254|exon_6_31239376_31239645 . 1/1:99:255,69,0 . 0/1:99:189,0,100 6 31239543 rs1050428 C T NON_SYNONYMOUS_CODING HLA-C MODERATE|MISSENSE|cGg/cAg|R96Q|403|HLA-C|protein_coding|CODING|ENST00000539307|exon_6_31239376_31239703 . 1/1:99:255,69,0 . 0/1:99:189,0,100 6 31239727 rs29029490 C A NON_SYNONYMOUS_CODING HLA-C MODERATE|MISSENSE|gGg/gTg|G41V|403|HLA-C|protein_coding|CODING|ENST00000539307|exon_6_31239723_31239848 0/1:45:59,0,42 . . . 6 31239742 rs41553018 G C NON_SYNONYMOUS_CODING HLA-C MODERATE|MISSENSE|gCg/gGg|A36G|403|HLA-C|protein_coding|CODING|ENST00000539307|exon_6_31239723_31239848 . . . 0/1:72:69,0,110 6 31239766 rs9264672 C T NON_SYNONYMOUS_CODING HLA-C MODERATE|MISSENSE|gGg/gAg|G28E|403|HLA-C|protein_coding|CODING|ENST00000539307|exon_6_31239723_31239848 . 1/1:75:167,39,0 . 0/1:35:100,0,32 6 31239776 rs2074493 A C NON_SYNONYMOUS_CODING HLA-C MODERATE|MISSENSE|Tgc/Ggc|C25G|366|HLA-C|protein_coding|CODING|ENST00000376228|exon_6_31239776_31239863 0/1:53:53,0,53 . . . 6 31239776 rs2074493 A C NON_SYNONYMOUS_CODING HLA-C MODERATE|MISSENSE|Tgc/Ggc|C25G|372|HLA-C|protein_coding|CODING|ENST00000383329|exon_6_31239776_31239863 0/1:53:53,0,53 . . . 6 31239776 rs2074493 A C NON_SYNONYMOUS_CODING HLA-C MODERATE|MISSENSE|Tgc/Ggc|C25G|397|HLA-C|protein_coding|CODING|ENST00000396254|exon_6_31239776_31239863 0/1:53:53,0,53 . . . 6 31239776 rs2074493 A C NON_SYNONYMOUS_CODING HLA-C MODERATE|MISSENSE|Tgt/Ggt|C25G|403|HLA-C|protein_coding|CODING|ENST00000539307|exon_6_31239723_31239848 0/1:53:53,0,53 . . . 6 31324078 rs1050368 G T NON_SYNONYMOUS_CODING HLA-B MODERATE|MISSENSE|aCg/aAg|T162K|362|HLA-B|protein_coding|CODING|ENST00000412585|exon_6_31323944_31324219 . 0/1:35:80,0,32 . . 6 31324078 rs1050368 G T NON_SYNONYMOUS_CODING HLA-B MODERATE|MISSENSE|aCg/aAg|T173K|245|HLA-B|protein_coding|CODING|ENST00000434333|exon_6_31323944_31324219 . 0/1:35:80,0,32 . . 6 31324078 rs1050368 G T NON_SYNONYMOUS_CODING HLA-B MODERATE|MISSENSE|aCg/aAg|T41K|202|HLA-B|protein_coding|CODING|ENST00000452596|exon_6_31323944_31324219 . 0/1:35:80,0,32 . . 6 31324078 rs1050368 G T NON_SYNONYMOUS_CODING HLA-B MODERATE|MISSENSE|aCg/aAg|T41K|241|HLA-B|protein_coding|CODING|ENST00000428231|exon_6_31323944_31324219 . 0/1:35:80,0,32 . . 6 31324208 rs12721829 G T NON_SYNONYMOUS_CODING HLA-B MODERATE|MISSENSE|Ctc/Atc|L119I|362|HLA-B|protein_coding|CODING|ENST00000412585|exon_6_31323944_31324219 . 1/1:21:92,12,0 . 0/1:20:68,0,17 6 31324208 rs12721829 G T NON_SYNONYMOUS_CODING HLA-B MODERATE|MISSENSE|Ctc/Atc|L130I|245|HLA-B|protein_coding|CODING|ENST00000434333|exon_6_31323944_31324219 . 1/1:21:92,12,0 . 0/1:20:68,0,17 6 31324210 rs12721827 G A NON_SYNONYMOUS_CODING HLA-B MODERATE|MISSENSE|aCc/aTc|T118I|362|HLA-B|protein_coding|CODING|ENST00000412585|exon_6_31323944_31324219 . 1/1:21:92,12,0 . 0/1:21:63,0,18 6 31324210 rs12721827 G A NON_SYNONYMOUS_CODING HLA-B MODERATE|MISSENSE|aCc/aTc|T129I|245|HLA-B|protein_coding|CODING|ENST00000434333|exon_6_31323944_31324219 . 1/1:21:92,12,0 . 0/1:21:63,0,18 6 31324509 rs41553715 T A NON_SYNONYMOUS_CODING HLA-B MODERATE|MISSENSE|gAg/gTg|E100V|362|HLA-B|protein_coding|CODING|ENST00000412585|exon_6_31324465_31324734 0/1:71:69,0,78 . . . 6 31324509 rs41553715 T A NON_SYNONYMOUS_CODING HLA-B MODERATE|MISSENSE|gAg/gTg|E111V|245|HLA-B|protein_coding|CODING|ENST00000434333|exon_6_31324465_31324965 0/1:71:69,0,78 . . . 6 31324756 rs151341082 G A NON_SYNONYMOUS_CODING HLA-B MODERATE|MISSENSE|Ctc/Ttc|L29F|245|HLA-B|protein_coding|CODING|ENST00000434333|exon_6_31324465_31324965 . 0/1:40:171,0,37 . 0/1:99:114,0,142 6 31378335 rs9380254 G C NON_SYNONYMOUS_CODING MICA MODERATE|MISSENSE|cGt/cCt|R16P|223|MICA|protein_coding|CODING|ENST00000421350|exon_6_31378320_31378574 0/1:99:255,0,174 . . . 6 31378335 rs9380254 G C NON_SYNONYMOUS_CODING MICA MODERATE|MISSENSE|cGt/cCt|R29P|289|MICA|protein_coding|CODING|ENST00000399172|exon_6_31378320_31378574 0/1:99:255,0,174 . . . 6 31378335 rs9380254 G C NON_SYNONYMOUS_CODING MICA MODERATE|MISSENSE|cGt/cCt|R29P|332|MICA|protein_coding|CODING|ENST00000364810|exon_6_31378320_31378574 0/1:99:255,0,174 . . . 6 31378335 rs9380254 G C NON_SYNONYMOUS_CODING MICA MODERATE|MISSENSE|cGt/cCt|R29P|332|MICA|protein_coding|CODING|ENST00000449934|exon_6_31378320_31378574 0/1:99:255,0,174 . . . 6 31379043 rs41560824 A G NON_SYNONYMOUS_CODING MICA MODERATE|MISSENSE|Atg/Gtg|M131V|289|MICA|protein_coding|CODING|ENST00000399172|exon_6_31378978_31379136 . . . 0/1:99:249,0,169 6 31379043 rs41560824 A G NON_SYNONYMOUS_CODING MICA MODERATE|MISSENSE|Atg/Gtg|M174V|332|MICA|protein_coding|CODING|ENST00000364810|exon_6_31378849_31379136 . . . 0/1:99:249,0,169 6 31379043 rs41560824 A G NON_SYNONYMOUS_CODING MICA MODERATE|MISSENSE|Atg/Gtg|M174V|332|MICA|protein_coding|CODING|ENST00000449934|exon_6_31378849_31379136 . . . 0/1:99:249,0,169 6 31379043 rs41560824 A G NON_SYNONYMOUS_CODING MICA MODERATE|MISSENSE|Atg/Gtg|M36V|194|MICA|protein_coding|CODING|ENST00000376222|exon_6_31379021_31379136 . . . 0/1:99:249,0,169 6 31379840 rs41540613 G C NON_SYNONYMOUS_CODING MICA MODERATE|MISSENSE|Gta/Cta|V106L|194|MICA|protein_coding|CODING|ENST00000376222|exon_6_31379724_31380002 0/1:99:195,0,255 . 0/1:99:217,0,255 . 6 31379840 rs41540613 G C NON_SYNONYMOUS_CODING MICA MODERATE|MISSENSE|Gta/Cta|V135L|223|MICA|protein_coding|CODING|ENST00000421350|exon_6_31379724_31380002 0/1:99:195,0,255 . 0/1:99:217,0,255 . 6 31379840 rs41540613 G C NON_SYNONYMOUS_CODING MICA MODERATE|MISSENSE|Gta/Cta|V201L|289|MICA|protein_coding|CODING|ENST00000399172|exon_6_31379724_31380002 0/1:99:195,0,255 . 0/1:99:217,0,255 . 6 31379840 rs41540613 G C NON_SYNONYMOUS_CODING MICA MODERATE|MISSENSE|Gta/Cta|V244L|332|MICA|protein_coding|CODING|ENST00000364810|exon_6_31379724_31380002 0/1:99:195,0,255 . 0/1:99:217,0,255 . 6 31379840 rs41540613 G C NON_SYNONYMOUS_CODING MICA MODERATE|MISSENSE|Gta/Cta|V244L|332|MICA|protein_coding|CODING|ENST00000449934|exon_6_31379724_31380002 0/1:99:195,0,255 . 0/1:99:217,0,255 . 6 31379990 rs41553616 C G NON_SYNONYMOUS_CODING MICA MODERATE|MISSENSE|Cct/Gct|P156A|194|MICA|protein_coding|CODING|ENST00000376222|exon_6_31379724_31380002 . . . 0/1:99:190,0,158 6 31379990 rs41553616 C G NON_SYNONYMOUS_CODING MICA MODERATE|MISSENSE|Cct/Gct|P185A|223|MICA|protein_coding|CODING|ENST00000421350|exon_6_31379724_31380002 . . . 0/1:99:190,0,158 6 31379990 rs41553616 C G NON_SYNONYMOUS_CODING MICA MODERATE|MISSENSE|Cct/Gct|P251A|289|MICA|protein_coding|CODING|ENST00000399172|exon_6_31379724_31380002 . . . 0/1:99:190,0,158 6 31379990 rs41553616 C G NON_SYNONYMOUS_CODING MICA MODERATE|MISSENSE|Cct/Gct|P294A|332|MICA|protein_coding|CODING|ENST00000364810|exon_6_31379724_31380002 . . . 0/1:99:190,0,158 6 31379990 rs41553616 C G NON_SYNONYMOUS_CODING MICA MODERATE|MISSENSE|Cct/Gct|P294A|332|MICA|protein_coding|CODING|ENST00000449934|exon_6_31379724_31380002 . . . 0/1:99:190,0,158 6 31473561 rs1065075 A G NON_SYNONYMOUS_CODING MICB MODERATE|MISSENSE|Aag/Gag|K48E|351|MICB|protein_coding|CODING|ENST00000538442|exon_6_31473394_31473648 0/1:99:238,0,244 . 1/1:99:255,63,0 . 6 31473561 rs1065075 A G NON_SYNONYMOUS_CODING MICB MODERATE|MISSENSE|Aag/Gag|K80E|340|MICB|protein_coding|CODING|ENST00000399150|exon_6_31473394_31473648 0/1:99:238,0,244 . 1/1:99:255,63,0 . 6 31473561 rs1065075 A G NON_SYNONYMOUS_CODING MICB MODERATE|MISSENSE|Aag/Gag|K80E|383|MICB|protein_coding|CODING|ENST00000252229|exon_6_31473394_31473648 0/1:99:238,0,244 . 1/1:99:255,63,0 . 6 31473957 rs3134900 C G NON_SYNONYMOUS_CODING MICB MODERATE|MISSENSE|atC/atG|I121M|383|MICB|protein_coding|CODING|ENST00000252229|exon_6_31473920_31474207 . . 0/1:99:249,0,214 . 6 31473957 rs3134900 C G NON_SYNONYMOUS_CODING MICB MODERATE|MISSENSE|atC/atG|I89M|351|MICB|protein_coding|CODING|ENST00000538442|exon_6_31473920_31474207 . . 0/1:99:249,0,214 . 6 31474000 rs1051788 G A NON_SYNONYMOUS_CODING MICB MODERATE|MISSENSE|Gat/Aat|D104N|351|MICB|protein_coding|CODING|ENST00000538442|exon_6_31473920_31474207 0/1:99:255,0,255 . 1/1:99:255,75,0 . 6 31474000 rs1051788 G A NON_SYNONYMOUS_CODING MICB MODERATE|MISSENSE|Gat/Aat|D136N|383|MICB|protein_coding|CODING|ENST00000252229|exon_6_31473920_31474207 0/1:99:255,0,255 . 1/1:99:255,75,0 . 6 31496921 rs114009639 A G NON_SYNONYMOUS_CODING MCCD1 MODERATE|MISSENSE|Acc/Gcc|T44A|119|MCCD1|protein_coding|CODING|ENST00000376191|exon_6_31496494_31496962 0/1:99:135,0,130 . 0/1:99:126,0,127 . 6 31496949 rs78957773 C T NON_SYNONYMOUS_CODING MCCD1 MODERATE|MISSENSE|aCg/aTg|T53M|119|MCCD1|protein_coding|CODING|ENST00000376191|exon_6_31496494_31496962 . . . 0/1:92:98,0,90 6 31506691 rs2071596 G A NON_SYNONYMOUS_CODING DDX39B MODERATE|MISSENSE|cCt/cTt|P122L|131|DDX39B|protein_coding|CODING|ENST00000419020|exon_6_31506659_31506716 0/1:99:252,0,219 0/1:99:254,0,255 . . 6 31506691 rs2071596 G A NON_SYNONYMOUS_CODING DDX39B MODERATE|MISSENSE|cCt/cTt|P122L|196|DDX39B|protein_coding|CODING|ENST00000428450|exon_6_31506540_31506716 0/1:99:252,0,219 0/1:99:254,0,255 . . 6 31540784 rs1041981 C A NON_SYNONYMOUS_CODING LTA MODERATE|MISSENSE|aCc/aAc|T60N|137|LTA|protein_coding|CODING|ENST00000436827|exon_6_31540705_31540810 0/1:99:205,0,165 0/1:99:232,0,199 0/1:99:97,0,255 . 6 31540784 rs1041981 C A NON_SYNONYMOUS_CODING LTA MODERATE|MISSENSE|aCc/aAc|T60N|205|LTA|protein_coding|CODING|ENST00000418386|exon_6_31540705_31540810 0/1:99:205,0,165 0/1:99:232,0,199 0/1:99:97,0,255 . 6 31540784 rs1041981 C A NON_SYNONYMOUS_CODING LTA MODERATE|MISSENSE|aCc/aAc|T60N|205|LTA|protein_coding|CODING|ENST00000454783|exon_6_31540705_31540810 0/1:99:205,0,165 0/1:99:232,0,199 0/1:99:97,0,255 . 6 31556928 rs3179003 C A NON_SYNONYMOUS_CODING NCR3 MODERATE|MISSENSE|agG/agT|R174S|201|NCR3|protein_coding|CODING|ENST00000340027|exon_6_31556672_31556953 0/1:99:255,0,255 0/1:99:255,0,177 0/1:99:238,0,188 . 6 31595772 . GCCTGCTGCCCCACCTGCTGCCCC GCCTGCTGCCCC CODON_CHANGE_PLUS_CODON_DELETION PRRC2A MODERATE||ccacctgctgcccct/cct|PPAAP500P|2138|PRRC2A|protein_coding|CODING|ENST00000435052|exon_6_31595542_31596016 . . . 0/1:99:149,0,255 6 31595772 . GCCTGCTGCCCCACCTGCTGCCCC GCCTGCTGCCCC CODON_CHANGE_PLUS_CODON_DELETION PRRC2A MODERATE||ccacctgctgcccct/cct|PPAAP511P|2149|PRRC2A|protein_coding|CODING|ENST00000424184|exon_6_31595542_31596016 . . . 0/1:99:149,0,255 6 31595772 . GCCTGCTGCCCCACCTGCTGCCCC GCCTGCTGCCCC CODON_CHANGE_PLUS_CODON_DELETION PRRC2A MODERATE||ccacctgctgcccct/cct|PPAAP511P|2157|PRRC2A|protein_coding|CODING|ENST00000376007|exon_6_31595542_31596016 . . . 0/1:99:149,0,255 6 31595772 . GCCTGCTGCCCCACCTGCTGCCCC GCCTGCTGCCCC CODON_CHANGE_PLUS_CODON_DELETION PRRC2A MODERATE||ccacctgctgcccct/cct|PPAAP511P|2157|PRRC2A|protein_coding|CODING|ENST00000376033|exon_6_31595542_31596016 . . . 0/1:99:149,0,255 6 31597070 . T C NON_SYNONYMOUS_CODING PRRC2A MODERATE|MISSENSE|Tat/Cat|Y628H|2138|PRRC2A|protein_coding|CODING|ENST00000435052|exon_6_31596921_31597111 . 0/1:99:237,0,255 . . 6 31597070 . T C NON_SYNONYMOUS_CODING PRRC2A MODERATE|MISSENSE|Tat/Cat|Y639H|2149|PRRC2A|protein_coding|CODING|ENST00000424184|exon_6_31596921_31597111 . 0/1:99:237,0,255 . . 6 31597070 . T C NON_SYNONYMOUS_CODING PRRC2A MODERATE|MISSENSE|Tat/Cat|Y639H|2157|PRRC2A|protein_coding|CODING|ENST00000376007|exon_6_31596921_31597111 . 0/1:99:237,0,255 . . 6 31597070 . T C NON_SYNONYMOUS_CODING PRRC2A MODERATE|MISSENSE|Tat/Cat|Y639H|2157|PRRC2A|protein_coding|CODING|ENST00000376033|exon_6_31596921_31597111 . 0/1:99:237,0,255 . . 6 31603045 rs35201773 A G NON_SYNONYMOUS_CODING PRRC2A MODERATE|MISSENSE|gAc/gGc|D1749G|2138|PRRC2A|protein_coding|CODING|ENST00000435052|exon_6_31602909_31603049 . . . 0/1:99:166,0,216 6 31603045 rs35201773 A G NON_SYNONYMOUS_CODING PRRC2A MODERATE|MISSENSE|gAc/gGc|D1760G|2149|PRRC2A|protein_coding|CODING|ENST00000424184|exon_6_31602909_31603049 . . . 0/1:99:166,0,216 6 31603045 rs35201773 A G NON_SYNONYMOUS_CODING PRRC2A MODERATE|MISSENSE|gAc/gGc|D1766G|2157|PRRC2A|protein_coding|CODING|ENST00000376007|exon_6_31602909_31603049 . . . 0/1:99:166,0,216 6 31603045 rs35201773 A G NON_SYNONYMOUS_CODING PRRC2A MODERATE|MISSENSE|gAc/gGc|D1766G|2157|PRRC2A|protein_coding|CODING|ENST00000376033|exon_6_31602909_31603049 . . . 0/1:99:166,0,216 6 31603045 rs35201773 A G NON_SYNONYMOUS_CODING PRRC2A MODERATE|MISSENSE|gAc/gGc|D991G|1382|PRRC2A|protein_coding|CODING|ENST00000376010|exon_6_31602909_31603049 . . . 0/1:99:166,0,216 6 31603189 rs11538264 G A NON_SYNONYMOUS_CODING PRRC2A MODERATE|MISSENSE|Gtg/Atg|V1757M|2138|PRRC2A|protein_coding|CODING|ENST00000435052|exon_6_31603171_31603242 . . . 0/1:99:252,0,255 6 31603189 rs11538264 G A NON_SYNONYMOUS_CODING PRRC2A MODERATE|MISSENSE|Gtg/Atg|V1768M|2149|PRRC2A|protein_coding|CODING|ENST00000424184|exon_6_31603171_31603242 . . . 0/1:99:252,0,255 6 31603189 rs11538264 G A NON_SYNONYMOUS_CODING PRRC2A MODERATE|MISSENSE|Gtg/Atg|V1774M|2157|PRRC2A|protein_coding|CODING|ENST00000376007|exon_6_31603171_31603242 . . . 0/1:99:252,0,255 6 31603189 rs11538264 G A NON_SYNONYMOUS_CODING PRRC2A MODERATE|MISSENSE|Gtg/Atg|V1774M|2157|PRRC2A|protein_coding|CODING|ENST00000376033|exon_6_31603171_31603242 . . . 0/1:99:252,0,255 6 31603189 rs11538264 G A NON_SYNONYMOUS_CODING PRRC2A MODERATE|MISSENSE|Gtg/Atg|V999M|1382|PRRC2A|protein_coding|CODING|ENST00000376010|exon_6_31603171_31603242 . . . 0/1:99:252,0,255 6 31604011 rs9366785 G A NON_SYNONYMOUS_CODING PRRC2A MODERATE|MISSENSE|Ggc/Agc|G1109S|1382|PRRC2A|protein_coding|CODING|ENST00000376010|exon_6_31603986_31604196 0/1:99:238,0,221 . . . 6 31604011 rs9366785 G A NON_SYNONYMOUS_CODING PRRC2A MODERATE|MISSENSE|Ggc/Agc|G1865S|2138|PRRC2A|protein_coding|CODING|ENST00000435052|exon_6_31603986_31604196 0/1:99:238,0,221 . . . 6 31604011 rs9366785 G A NON_SYNONYMOUS_CODING PRRC2A MODERATE|MISSENSE|Ggc/Agc|G1876S|2149|PRRC2A|protein_coding|CODING|ENST00000424184|exon_6_31603986_31604196 0/1:99:238,0,221 . . . 6 31604011 rs9366785 G A NON_SYNONYMOUS_CODING PRRC2A MODERATE|MISSENSE|Ggc/Agc|G1884S|2157|PRRC2A|protein_coding|CODING|ENST00000376007|exon_6_31603986_31604196 0/1:99:238,0,221 . . . 6 31604011 rs9366785 G A NON_SYNONYMOUS_CODING PRRC2A MODERATE|MISSENSE|Ggc/Agc|G1884S|2157|PRRC2A|protein_coding|CODING|ENST00000376033|exon_6_31603986_31604196 0/1:99:238,0,221 . . . 6 31605278 rs1046756 C T NON_SYNONYMOUS_CODING PRRC2A MODERATE|MISSENSE|cCg/cTg|P1355L|1382|PRRC2A|protein_coding|CODING|ENST00000376010|exon_6_31605223_31605374 . 0/1:99:176,0,201 . . 6 31605278 rs1046756 C T NON_SYNONYMOUS_CODING PRRC2A MODERATE|MISSENSE|cCg/cTg|P2111L|2138|PRRC2A|protein_coding|CODING|ENST00000435052|exon_6_31605223_31605537 . 0/1:99:176,0,201 . . 6 31605278 rs1046756 C T NON_SYNONYMOUS_CODING PRRC2A MODERATE|MISSENSE|cCg/cTg|P2122L|2149|PRRC2A|protein_coding|CODING|ENST00000424184|exon_6_31605223_31605537 . 0/1:99:176,0,201 . . 6 31605278 rs1046756 C T NON_SYNONYMOUS_CODING PRRC2A MODERATE|MISSENSE|cCg/cTg|P2130L|2157|PRRC2A|protein_coding|CODING|ENST00000376007|exon_6_31605223_31605548 . 0/1:99:176,0,201 . . 6 31605278 rs1046756 C T NON_SYNONYMOUS_CODING PRRC2A MODERATE|MISSENSE|cCg/cTg|P2130L|2157|PRRC2A|protein_coding|CODING|ENST00000376033|exon_6_31605223_31605548 . 0/1:99:176,0,201 . . 6 31627449 rs2242655 C G NON_SYNONYMOUS_CODING C6orf47 MODERATE|MISSENSE|aaG/aaC|K92N|294|C6orf47|protein_coding|CODING|ENST00000375911|exon_6_31626075_31628549 . . . 0/1:99:158,0,193 6 31627449 rs2242655 C G NON_SYNONYMOUS_CODING C6orf47 MODERATE|MISSENSE|aaG/aaC|K92N|311|C6orf47|protein_coding|CODING|ENST00000538106|exon_6_31626942_31627724 . . . 0/1:99:158,0,193 6 31639845 rs11758242 C A NON_SYNONYMOUS_CODING LY6G5B MODERATE|MISSENSE|tCc/tAc|S128Y|198|LY6G5B|protein_coding|CODING|ENST00000409691|exon_6_31639641_31641323 . . . 0/1:99:235,0,255 6 31639845 rs11758242 C A NON_SYNONYMOUS_CODING LY6G5B MODERATE|MISSENSE|tCc/tAc|S131Y|201|LY6G5B|protein_coding|CODING|ENST00000375864|exon_6_31639641_31641323 . . . 0/1:99:235,0,255 6 31639845 rs11758242 C A NON_SYNONYMOUS_CODING LY6G5B MODERATE|MISSENSE|tCc/tAc|S76Y|146|LY6G5B|protein_coding|CODING|ENST00000409525|exon_6_31639641_31640239 . . . 0/1:99:235,0,255 6 31660848 rs11552114 G A NON_SYNONYMOUS_CODING ABHD16A MODERATE|MISSENSE|aCa/aTa|T96I|145|ABHD16A|protein_coding|CODING|ENST00000538874|exon_6_31660529_31660926 . . . 0/1:99:126,0,142 6 31685392 rs118062293 C T NON_SYNONYMOUS_CODING LY6G6D MODERATE|MISSENSE|Cgt/Tgt|R112C|173|LY6G6D|protein_coding|CODING|ENST00000375824|exon_6_31685237_31685581 0/1:99:244,0,255 . . . 6 31709045 rs28381349 C T NON_SYNONYMOUS_CODING MSH5 MODERATE|MISSENSE|Ctc/Ttc|L85F|193|MSH5|protein_coding|CODING|ENST00000425703|exon_6_31708940_31709063 . . . 0/1:99:159,0,255 6 31709045 rs28381349 C T NON_SYNONYMOUS_CODING MSH5 MODERATE|MISSENSE|Ctc/Ttc|L85F|822|MSH5|protein_coding|CODING|ENST00000375740|exon_6_31708940_31709063 . . . 0/1:99:159,0,255 6 31709045 rs28381349 C T NON_SYNONYMOUS_CODING MSH5 MODERATE|MISSENSE|Ctc/Ttc|L85F|834|MSH5|protein_coding|CODING|ENST00000375750|exon_6_31708940_31709063 . . . 0/1:99:159,0,255 6 31709045 rs28381349 C T NON_SYNONYMOUS_CODING MSH5 MODERATE|MISSENSE|Ctc/Ttc|L85F|834|MSH5|protein_coding|CODING|ENST00000375755|exon_6_31708940_31709063 . . . 0/1:99:159,0,255 6 31709045 rs28381349 C T NON_SYNONYMOUS_CODING MSH5 MODERATE|MISSENSE|Ctc/Ttc|L85F|835|MSH5|protein_coding|CODING|ENST00000375703|exon_6_31708940_31709063 . . . 0/1:99:159,0,255 6 31709045 rs28381349 C T NON_SYNONYMOUS_CODING MSH5 MODERATE|MISSENSE|Ctc/Ttc|L85F|851|MSH5|protein_coding|CODING|ENST00000375742|exon_6_31708940_31709063 . . . 0/1:99:159,0,255 6 31709045 rs28381349 C T NON_SYNONYMOUS_CODING MSH5 MODERATE|MISSENSE|Ctc/Ttc|L85F|851|MSH5|protein_coding|CODING|ENST00000534153|exon_6_31708940_31709063 . . . 0/1:99:159,0,255 6 31721101 . A G NON_SYNONYMOUS_CODING MSH5 MODERATE|MISSENSE|cAt/cGt|H116R|332|MSH5|protein_coding|CODING|ENST00000450148|exon_6_31721078_31721216 0/1:99:243,0,255 . . . 6 31721101 . A G NON_SYNONYMOUS_CODING MSH5 MODERATE|MISSENSE|cAt/cGt|H279R|834|MSH5|protein_coding|CODING|ENST00000375750|exon_6_31721078_31721216 0/1:99:243,0,255 . . . 6 31721101 . A G NON_SYNONYMOUS_CODING MSH5 MODERATE|MISSENSE|cAt/cGt|H279R|834|MSH5|protein_coding|CODING|ENST00000375755|exon_6_31721078_31721216 0/1:99:243,0,255 . . . 6 31721101 . A G NON_SYNONYMOUS_CODING MSH5 MODERATE|MISSENSE|cAt/cGt|H279R|835|MSH5|protein_coding|CODING|ENST00000375703|exon_6_31721078_31721216 0/1:99:243,0,255 . . . 6 31721101 . A G NON_SYNONYMOUS_CODING MSH5 MODERATE|MISSENSE|cAt/cGt|H296R|822|MSH5|protein_coding|CODING|ENST00000375740|exon_6_31721078_31721216 0/1:99:243,0,255 . . . 6 31721101 . A G NON_SYNONYMOUS_CODING MSH5 MODERATE|MISSENSE|cAt/cGt|H296R|851|MSH5|protein_coding|CODING|ENST00000375742|exon_6_31721078_31721216 0/1:99:243,0,255 . . . 6 31721101 . A G NON_SYNONYMOUS_CODING MSH5 MODERATE|MISSENSE|cAt/cGt|H296R|851|MSH5|protein_coding|CODING|ENST00000534153|exon_6_31721078_31721216 0/1:99:243,0,255 . . . 6 31729925 rs1802127 C T NON_SYNONYMOUS_CODING MSH5 MODERATE|MISSENSE|Cct/Tct|P108S|156|MSH5|protein_coding|CODING|ENST00000429846|exon_6_31729889_31729962 . . . 0/1:99:255,0,255 6 31729925 rs1802127 C T NON_SYNONYMOUS_CODING MSH5 MODERATE|MISSENSE|Cct/Tct|P460S|508|MSH5|protein_coding|CODING|ENST00000395853|exon_6_31729889_31729962 . . . 0/1:99:255,0,255 6 31729925 rs1802127 C T NON_SYNONYMOUS_CODING MSH5 MODERATE|MISSENSE|Cct/Tct|P485S|533|MSH5|protein_coding|CODING|ENST00000431848|exon_6_31729889_31729962 . . . 0/1:99:255,0,255 6 31729925 rs1802127 C T NON_SYNONYMOUS_CODING MSH5 MODERATE|MISSENSE|Cct/Tct|P774S|822|MSH5|protein_coding|CODING|ENST00000375740|exon_6_31729889_31729962 . . . 0/1:99:255,0,255 6 31729925 rs1802127 C T NON_SYNONYMOUS_CODING MSH5 MODERATE|MISSENSE|Cct/Tct|P786S|834|MSH5|protein_coding|CODING|ENST00000375750|exon_6_31729889_31729962 . . . 0/1:99:255,0,255 6 31729925 rs1802127 C T NON_SYNONYMOUS_CODING MSH5 MODERATE|MISSENSE|Cct/Tct|P786S|834|MSH5|protein_coding|CODING|ENST00000375755|exon_6_31729889_31729962 . . . 0/1:99:255,0,255 6 31729925 rs1802127 C T NON_SYNONYMOUS_CODING MSH5 MODERATE|MISSENSE|Cct/Tct|P787S|835|MSH5|protein_coding|CODING|ENST00000375703|exon_6_31729889_31729962 . . . 0/1:99:255,0,255 6 31729925 rs1802127 C T NON_SYNONYMOUS_CODING MSH5 MODERATE|MISSENSE|Cct/Tct|P803S|851|MSH5|protein_coding|CODING|ENST00000375742|exon_6_31729889_31729962 . . . 0/1:99:255,0,255 6 31729925 rs1802127 C T NON_SYNONYMOUS_CODING MSH5 MODERATE|MISSENSE|Cct/Tct|P803S|851|MSH5|protein_coding|CODING|ENST00000534153|exon_6_31729889_31729962 . . . 0/1:99:255,0,255 6 31733466 rs3101017 T C NON_SYNONYMOUS_CODING VWA7 MODERATE|MISSENSE|Act/Gct|T861A|891|VWA7|protein_coding|CODING|ENST00000375688|exon_6_31733367_31733547 . . 0/1:99:231,0,195 . 6 31734345 rs3115671 G T NON_SYNONYMOUS_CODING VWA7 MODERATE|MISSENSE|Cac/Aac|H687N|688|VWA7|protein_coding|CODING|ENST00000447450|exon_6_31734337_31734495 . . 0/1:99:240,0,224 . 6 31736835 rs11966331 C T NON_SYNONYMOUS_CODING VWA7 MODERATE|MISSENSE|cGa/cAa|R488Q|688|VWA7|protein_coding|CODING|ENST00000447450|exon_6_31736795_31736980 0/1:98:195,0,95 . . . 6 31736835 rs11966331 C T NON_SYNONYMOUS_CODING VWA7 MODERATE|MISSENSE|cGa/cAa|R488Q|852|VWA7|protein_coding|CODING|ENST00000375686|exon_6_31736795_31736980 0/1:98:195,0,95 . . . 6 31736835 rs11966331 C T NON_SYNONYMOUS_CODING VWA7 MODERATE|MISSENSE|cGa/cAa|R488Q|891|VWA7|protein_coding|CODING|ENST00000375688|exon_6_31736795_31736980 0/1:98:195,0,95 . . . 6 31750509 rs11531 G A NON_SYNONYMOUS_CODING VARS MODERATE|MISSENSE|Ccg/Tcg|P626S|1264|VARS|protein_coding|CODING|ENST00000375663|exon_6_31750498_31750622 . 0/1:99:255,0,210 . . 6 31762843 rs2607015 G C NON_SYNONYMOUS_CODING VARS MODERATE|MISSENSE|cCc/cGc|P51R|1264|VARS|protein_coding|CODING|ENST00000375663|exon_6_31762608_31763027 . 0/1:99:204,0,212 . . 6 31762843 rs2607015 G C NON_SYNONYMOUS_CODING VARS MODERATE|MISSENSE|cCc/cGc|P51R|173|VARS|protein_coding|CODING|ENST00000440048|exon_6_31762608_31763276 . 0/1:99:204,0,212 . . 6 31762844 rs78361546 G T NON_SYNONYMOUS_CODING VARS MODERATE|MISSENSE|Ccc/Acc|P51T|1264|VARS|protein_coding|CODING|ENST00000375663|exon_6_31762608_31763027 . 0/1:99:195,0,214 . . 6 31762844 rs78361546 G T NON_SYNONYMOUS_CODING VARS MODERATE|MISSENSE|Ccc/Acc|P51T|173|VARS|protein_coding|CODING|ENST00000440048|exon_6_31762608_31763276 . 0/1:99:195,0,214 . . 6 31777946 rs2075800 C T NON_SYNONYMOUS_CODING HSPA1L MODERATE|MISSENSE|Gag/Aag|E547K|586|HSPA1L|protein_coding|CODING|ENST00000375653|exon_6_31777824_31779290 . 0/1:99:255,0,255 . . 6 31777946 rs2075800 C T NON_SYNONYMOUS_CODING HSPA1L MODERATE|MISSENSE|Gag/Aag|E602K|641|HSPA1L|protein_coding|CODING|ENST00000375654|exon_6_31777396_31779762 . 0/1:99:255,0,255 . . 6 31777946 rs2075800 C T NON_SYNONYMOUS_CODING HSPA1L MODERATE|MISSENSE|Gag/Aag|E602K|641|HSPA1L|protein_coding|CODING|ENST00000417199|exon_6_31777824_31779762 . 0/1:99:255,0,255 . . 6 31795536 rs11576014 G A NON_SYNONYMOUS_CODING HSPA1B MODERATE|MISSENSE|tGc/tAc|C4Y|708|HSPA1B|protein_coding|CODING|ENST00000542758|exon_6_31795512_31795714 . . . 1/1:39:172,21,0 6 31846741 rs2075798 C A NON_SYNONYMOUS_CODING SLC44A4 MODERATE|MISSENSE|cGg/cTg|R6L|668|SLC44A4|protein_coding|CODING|ENST00000375562|exon_6_31846718_31846823 . . . 0/1:99:152,0,145 6 31846741 rs2075798 C A NON_SYNONYMOUS_CODING SLC44A4 MODERATE|MISSENSE|cGg/cTg|R6L|710|SLC44A4|protein_coding|CODING|ENST00000229729|exon_6_31846718_31846778 . . . 0/1:99:152,0,145 6 31861141 rs2844457 A T NON_SYNONYMOUS_CODING EHMT2 MODERATE|MISSENSE|Tgg/Agg|W8R|1031|EHMT2|protein_coding|CODING|ENST00000442298|exon_6_31861139_31861162 . 0/1:99:255,0,255 . . 6 31864547 rs7887 G T NON_SYNONYMOUS_CODING EHMT2 MODERATE|MISSENSE|aCc/aAc|T112N|1233|EHMT2|protein_coding|CODING|ENST00000375528|exon_6_31864383_31864601 . 0/1:99:230,0,254 . . 6 31864547 rs7887 G T NON_SYNONYMOUS_CODING EHMT2 MODERATE|MISSENSE|aCc/aAc|T112N|1267|EHMT2|protein_coding|CODING|ENST00000395728|exon_6_31864383_31864601 . 0/1:99:230,0,254 . . 6 31864547 rs7887 G T NON_SYNONYMOUS_CODING EHMT2 MODERATE|MISSENSE|aCc/aAc|T55N|1176|EHMT2|protein_coding|CODING|ENST00000375530|exon_6_31864383_31864601 . 0/1:99:230,0,254 . . 6 31864547 rs7887 G T NON_SYNONYMOUS_CODING EHMT2 MODERATE|MISSENSE|aCc/aAc|T55N|1210|EHMT2|protein_coding|CODING|ENST00000375537|exon_6_31864383_31864601 . 0/1:99:230,0,254 . . 6 31912523 rs36221133 T C NON_SYNONYMOUS_CODING C2 MODERATE|MISSENSE|gTt/gCt|V326A|377|C2|protein_coding|CODING|ENST00000375493|exon_6_31912504_31912630 . . . 0/1:99:232,0,212 6 31912523 rs36221133 T C NON_SYNONYMOUS_CODING C2 MODERATE|MISSENSE|gTt/gCt|V395A|506|C2|protein_coding|CODING|ENST00000469372|exon_6_31912504_31912630 . . . 0/1:99:232,0,212 6 31912523 rs36221133 T C NON_SYNONYMOUS_CODING XXbac-BPG116M5.17.1 MODERATE|MISSENSE|gTt/gCt|V412A|1115|XXbac-BPG116M5.17.1|protein_coding|CODING|ENST00000477310|exon_6_31912504_31912630 . . . 0/1:99:232,0,212 6 31912523 rs36221133 T C NON_SYNONYMOUS_CODING C2 MODERATE|MISSENSE|gTt/gCt|V427A|538|C2|protein_coding|CODING|ENST00000452323|exon_6_31912504_31912630 . . . 0/1:99:232,0,212 6 31912523 rs36221133 T C NON_SYNONYMOUS_CODING C2 MODERATE|MISSENSE|gTt/gCt|V428A|462|C2|protein_coding|CODING|ENST00000497706|exon_6_31912504_31912630 . . . 0/1:99:232,0,212 6 31912523 rs36221133 T C NON_SYNONYMOUS_CODING CFB MODERATE|MISSENSE|gTt/gCt|V488A|1266|CFB|protein_coding|CODING|ENST00000556679|exon_6_31912504_31912630 . . . 0/1:99:232,0,212 6 31912523 rs36221133 T C NON_SYNONYMOUS_CODING XXbac-BPG116M5.17.1 MODERATE|MISSENSE|gTt/gCt|V488A|1266|XXbac-BPG116M5.17.1|protein_coding|CODING|ENST00000456570|exon_6_31912504_31912630 . . . 0/1:99:232,0,212 6 31912523 rs36221133 T C NON_SYNONYMOUS_CODING C2 MODERATE|MISSENSE|gTt/gCt|V509A|620|C2|protein_coding|CODING|ENST00000442278|exon_6_31912504_31912630 . . . 0/1:99:232,0,212 6 31912523 rs36221133 T C NON_SYNONYMOUS_CODING C2 MODERATE|MISSENSE|gTt/gCt|V641A|752|C2|protein_coding|CODING|ENST00000299367|exon_6_31912504_31912630 . . . 0/1:99:232,0,212 6 31929737 rs36038685 C T NON_SYNONYMOUS_CODING SKIV2L MODERATE|MISSENSE|Cgg/Tgg|R131W|1053|SKIV2L|protein_coding|CODING|ENST00000544581|exon_6_31929686_31929831 . 0/1:99:255,0,255 . . 6 31929737 rs36038685 C T NON_SYNONYMOUS_CODING SKIV2L MODERATE|MISSENSE|Cgg/Tgg|R166W|1088|SKIV2L|protein_coding|CODING|ENST00000433155|exon_6_31929686_31929831 . 0/1:99:255,0,255 . . 6 31929737 rs36038685 C T NON_SYNONYMOUS_CODING SKIV2L MODERATE|MISSENSE|Cgg/Tgg|R324W|1246|SKIV2L|protein_coding|CODING|ENST00000375394|exon_6_31929686_31929831 . 0/1:99:255,0,255 . . 6 31935567 rs3911893 G A NON_SYNONYMOUS_CODING SKIV2L MODERATE|MISSENSE|Gac/Aac|D694N|1053|SKIV2L|protein_coding|CODING|ENST00000544581|exon_6_31935492_31935639 . . . 0/1:99:126,0,160 6 31935567 rs3911893 G A NON_SYNONYMOUS_CODING SKIV2L MODERATE|MISSENSE|Gac/Aac|D729N|1088|SKIV2L|protein_coding|CODING|ENST00000433155|exon_6_31935492_31935639 . . . 0/1:99:126,0,160 6 31935567 rs3911893 G A NON_SYNONYMOUS_CODING SKIV2L MODERATE|MISSENSE|Gac/Aac|D887N|1246|SKIV2L|protein_coding|CODING|ENST00000375394|exon_6_31935492_31935639 . . . 0/1:99:126,0,160 6 31948448 rs616634 A G NON_SYNONYMOUS_CODING STK19 MODERATE|MISSENSE|Agc/Ggc|S307G|364|STK19|protein_coding|CODING|ENST00000375331|exon_6_31948431_31948578 . . . 0/1:63:60,0,208 6 31948448 rs616634 A G NON_SYNONYMOUS_CODING STK19 MODERATE|MISSENSE|Agc/Ggc|S311G|368|STK19|protein_coding|CODING|ENST00000375333|exon_6_31948431_31948578 . . . 0/1:63:60,0,208 6 31996297 . G A NON_SYNONYMOUS_CODING C4B MODERATE|MISSENSE|gGc/gAc|G1073D|1698|C4B|protein_coding|CODING|ENST00000425700|exon_6_31996234_31996309 1/1:21:79,12,0 . . . 6 31996297 . G A NON_SYNONYMOUS_CODING C4B MODERATE|MISSENSE|gGc/gAc|G1073D|1744|C4B|protein_coding|CODING|ENST00000435363|exon_6_31996234_31996309 1/1:21:79,12,0 . . . 6 32007846 rs142028935 C T NON_SYNONYMOUS_CODING CYP21A2 MODERATE|MISSENSE|cCg/cTg|P238L|465|CYP21A2|protein_coding|CODING|ENST00000435122|exon_6_32007782_32007982 . . . 0/1:74:71,0,156 6 32007846 rs142028935 C T NON_SYNONYMOUS_CODING CYP21A2 MODERATE|MISSENSE|cCg/cTg|P268L|495|CYP21A2|protein_coding|CODING|ENST00000418967|exon_6_32007782_32007982 . . . 0/1:74:71,0,156 6 32011639 rs2395085 T C NON_SYNONYMOUS_CODING TNXB MODERATE|MISSENSE|cAg/cGg|Q235R|673|TNXB|protein_coding|CODING|ENST00000451343|exon_6_32011526_32011669 0/1:99:170,0,222 . . . 6 32011639 rs2395085 T C NON_SYNONYMOUS_CODING TNXB MODERATE|MISSENSE|cAg/cGg|Q3804R|4242|TNXB|protein_coding|CODING|ENST00000375247|exon_6_32011526_32011669 0/1:99:170,0,222 . . . 6 32011639 rs2395085 T C NON_SYNONYMOUS_CODING TNXB MODERATE|MISSENSE|cAg/cGg|Q3806R|4244|TNXB|protein_coding|CODING|ENST00000375244|exon_6_32011526_32011669 0/1:99:170,0,222 . . . 6 32017173 rs41270450 G C NON_SYNONYMOUS_CODING TNXB MODERATE|MISSENSE|Cgt/Ggt|R3209G|4242|TNXB|protein_coding|CODING|ENST00000375247|exon_6_32017047_32017364 . . . 0/1:99:210,0,180 6 32017173 rs41270450 G C NON_SYNONYMOUS_CODING TNXB MODERATE|MISSENSE|Cgt/Ggt|R3211G|4244|TNXB|protein_coding|CODING|ENST00000375244|exon_6_32017047_32017364 . . . 0/1:99:210,0,180 6 32020717 rs149492184 G T NON_SYNONYMOUS_CODING TNXB MODERATE|MISSENSE|Ccc/Acc|P2947T|4242|TNXB|protein_coding|CODING|ENST00000375247|exon_6_32020447_32020770 . . . 0/1:99:96,0,254 6 32020717 rs149492184 G T NON_SYNONYMOUS_CODING TNXB MODERATE|MISSENSE|Ccc/Acc|P2949T|4244|TNXB|protein_coding|CODING|ENST00000375244|exon_6_32020447_32020770 . . . 0/1:99:96,0,254 6 32021414 rs61745355 C T NON_SYNONYMOUS_CODING TNXB MODERATE|MISSENSE|Ggg/Agg|G2846R|4242|TNXB|protein_coding|CODING|ENST00000375247|exon_6_32021165_32021482 . . . 0/1:70:240,0,67 6 32021414 rs61745355 C T NON_SYNONYMOUS_CODING TNXB MODERATE|MISSENSE|Ggg/Agg|G2848R|4244|TNXB|protein_coding|CODING|ENST00000375244|exon_6_32021165_32021488 . . . 0/1:70:240,0,67 6 32024395 rs10947230 C T NON_SYNONYMOUS_CODING TNXB MODERATE|MISSENSE|cGc/cAc|R2704H|4242|TNXB|protein_coding|CODING|ENST00000375247|exon_6_32024363_32024680 . . . 0/1:99:133,0,196 6 32024395 rs10947230 C T NON_SYNONYMOUS_CODING TNXB MODERATE|MISSENSE|cGc/cAc|R2704H|4244|TNXB|protein_coding|CODING|ENST00000375244|exon_6_32024363_32024680 . . . 0/1:99:133,0,196 6 32029431 rs12524664 G A NON_SYNONYMOUS_CODING TNXB MODERATE|MISSENSE|cCg/cTg|P2412L|4242|TNXB|protein_coding|CODING|ENST00000375247|exon_6_32029174_32029497 . . . 0/1:99:99,0,229 6 32029431 rs12524664 G A NON_SYNONYMOUS_CODING TNXB MODERATE|MISSENSE|cCg/cTg|P2412L|4244|TNXB|protein_coding|CODING|ENST00000375244|exon_6_32029174_32029497 . . . 0/1:99:99,0,229 6 32052216 rs149995364 C T NON_SYNONYMOUS_CODING TNXB MODERATE|MISSENSE|gGt/gAt|G1140D|4242|TNXB|protein_coding|CODING|ENST00000375247|exon_6_32052190_32052486 . . . 0/1:99:255,0,198 6 32052216 rs149995364 C T NON_SYNONYMOUS_CODING TNXB MODERATE|MISSENSE|gGt/gAt|G1140D|4244|TNXB|protein_coding|CODING|ENST00000375244|exon_6_32052190_32052486 . . . 0/1:99:255,0,198 6 32064726 rs1150752 T C NON_SYNONYMOUS_CODING TNXB MODERATE|MISSENSE|Act/Gct|T302A|4242|TNXB|protein_coding|CODING|ENST00000375247|exon_6_32063388_32065226 . . 0/1:99:244,0,146 . 6 32064726 rs1150752 T C NON_SYNONYMOUS_CODING TNXB MODERATE|MISSENSE|Act/Gct|T302A|4244|TNXB|protein_coding|CODING|ENST00000375244|exon_6_32063388_32065226 . . 0/1:99:244,0,146 . 6 32064726 rs1150752 T C NON_SYNONYMOUS_CODING TNXB MODERATE|MISSENSE|Act/Gct|T302A|842|TNXB|protein_coding|CODING|ENST00000479795|exon_6_32063388_32065226 . . 0/1:99:244,0,146 . 6 32151443 rs2070600 C T NON_SYNONYMOUS_CODING AGER MODERATE|MISSENSE|Ggc/Agc|G113S|435|AGER|protein_coding|CODING|ENST00000375070|exon_6_32151332_32151527 0/1:99:193,0,158 0/1:99:216,0,163 . . 6 32151443 rs2070600 C T NON_SYNONYMOUS_CODING AGER MODERATE|MISSENSE|Ggc/Agc|G68S|342|AGER|protein_coding|CODING|ENST00000375067|exon_6_32151332_32151485 0/1:99:193,0,158 0/1:99:216,0,163 . . 6 32151443 rs2070600 C T NON_SYNONYMOUS_CODING AGER MODERATE|MISSENSE|Ggc/Agc|G82S|121|AGER|protein_coding|CODING|ENST00000375065|exon_6_32151358_32151527 0/1:99:193,0,158 0/1:99:216,0,163 . . 6 32151443 rs2070600 C T NON_SYNONYMOUS_CODING AGER MODERATE|MISSENSE|Ggc/Agc|G82S|128|AGER|protein_coding|CODING|ENST00000538695|exon_6_32151332_32151527 0/1:99:193,0,158 0/1:99:216,0,163 . . 6 32151443 rs2070600 C T NON_SYNONYMOUS_CODING AGER MODERATE|MISSENSE|Ggc/Agc|G82S|153|AGER|protein_coding|CODING|ENST00000546237|exon_6_32151405_32151527 0/1:99:193,0,158 0/1:99:216,0,163 . . 6 32151443 rs2070600 C T NON_SYNONYMOUS_CODING AGER MODERATE|MISSENSE|Ggc/Agc|G82S|232|AGER|protein_coding|CODING|ENST00000375056|exon_6_32151332_32151527 0/1:99:193,0,158 0/1:99:216,0,163 . . 6 32151443 rs2070600 C T NON_SYNONYMOUS_CODING AGER MODERATE|MISSENSE|Ggc/Agc|G82S|233|AGER|protein_coding|CODING|ENST00000450110|exon_6_32151345_32151527 0/1:99:193,0,158 0/1:99:216,0,163 . . 6 32151443 rs2070600 C T NON_SYNONYMOUS_CODING AGER MODERATE|MISSENSE|Ggc/Agc|G82S|347|AGER|protein_coding|CODING|ENST00000375055|exon_6_32151332_32151527 0/1:99:193,0,158 0/1:99:216,0,163 . . 6 32151443 rs2070600 C T NON_SYNONYMOUS_CODING AGER MODERATE|MISSENSE|Ggc/Agc|G82S|363|AGER|protein_coding|CODING|ENST00000438221|exon_6_32151332_32151527 0/1:99:193,0,158 0/1:99:216,0,163 . . 6 32151443 rs2070600 C T NON_SYNONYMOUS_CODING AGER MODERATE|MISSENSE|Ggc/Agc|G82S|404|AGER|protein_coding|CODING|ENST00000375076|exon_6_32151332_32151527 0/1:99:193,0,158 0/1:99:216,0,163 . . 6 32168996 rs8192573 C G NON_SYNONYMOUS_CODING NOTCH4 MODERATE|MISSENSE|cGg/cCg|R1346P|2003|NOTCH4|protein_coding|CODING|ENST00000375023|exon_6_32168894_32169277 . . . 0/1:99:145,0,213 6 32261153 rs16870005 C T NON_SYNONYMOUS_CODING C6orf10 MODERATE|MISSENSE|Gca/Aca|A417T|547|C6orf10|protein_coding|CODING|ENST00000527965|exon_6_32260492_32261812 . . . 0/1:99:191,0,182 6 32261153 rs16870005 C T NON_SYNONYMOUS_CODING C6orf10 MODERATE|MISSENSE|Gca/Aca|A424T|468|C6orf10|protein_coding|CODING|ENST00000442822|exon_6_32261064_32261812 . . . 0/1:99:191,0,182 6 32261153 rs16870005 C T NON_SYNONYMOUS_CODING C6orf10 MODERATE|MISSENSE|Gca/Aca|A430T|560|C6orf10|protein_coding|CODING|ENST00000305725|exon_6_32260758_32261818 . . . 0/1:99:191,0,182 6 32261153 rs16870005 C T NON_SYNONYMOUS_CODING C6orf10 MODERATE|MISSENSE|Gca/Aca|A430T|567|C6orf10|protein_coding|CODING|ENST00000375002|exon_6_32260806_32261441 . . . 0/1:99:191,0,182 6 32261153 rs16870005 C T NON_SYNONYMOUS_CODING C6orf10 MODERATE|MISSENSE|Gca/Aca|A431T|561|C6orf10|protein_coding|CODING|ENST00000375007|exon_6_32260492_32261812 . . . 0/1:99:191,0,182 6 32261153 rs16870005 C T NON_SYNONYMOUS_CODING C6orf10 MODERATE|MISSENSE|Gca/Aca|A431T|561|C6orf10|protein_coding|CODING|ENST00000533191|exon_6_32260475_32261812 . . . 0/1:99:191,0,182 6 32261153 rs16870005 C T NON_SYNONYMOUS_CODING C6orf10 MODERATE|MISSENSE|Gca/Aca|A432T|562|C6orf10|protein_coding|CODING|ENST00000375015|exon_6_32260475_32261812 . . . 0/1:99:191,0,182 6 32261153 rs16870005 C T NON_SYNONYMOUS_CODING C6orf10 MODERATE|MISSENSE|Gca/Aca|A433T|563|C6orf10|protein_coding|CODING|ENST00000447241|exon_6_32260475_32261812 . . . 0/1:99:191,0,182 6 32261252 rs7775397 T G NON_SYNONYMOUS_CODING C6orf10 MODERATE|MISSENSE|Aag/Cag|K384Q|547|C6orf10|protein_coding|CODING|ENST00000527965|exon_6_32260492_32261812 . . 0/1:99:176,0,255 . 6 32261252 rs7775397 T G NON_SYNONYMOUS_CODING C6orf10 MODERATE|MISSENSE|Aag/Cag|K391Q|468|C6orf10|protein_coding|CODING|ENST00000442822|exon_6_32261064_32261812 . . 0/1:99:176,0,255 . 6 32261252 rs7775397 T G NON_SYNONYMOUS_CODING C6orf10 MODERATE|MISSENSE|Aag/Cag|K397Q|560|C6orf10|protein_coding|CODING|ENST00000305725|exon_6_32260758_32261818 . . 0/1:99:176,0,255 . 6 32261252 rs7775397 T G NON_SYNONYMOUS_CODING C6orf10 MODERATE|MISSENSE|Aag/Cag|K397Q|567|C6orf10|protein_coding|CODING|ENST00000375002|exon_6_32260806_32261441 . . 0/1:99:176,0,255 . 6 32261252 rs7775397 T G NON_SYNONYMOUS_CODING C6orf10 MODERATE|MISSENSE|Aag/Cag|K398Q|561|C6orf10|protein_coding|CODING|ENST00000375007|exon_6_32260492_32261812 . . 0/1:99:176,0,255 . 6 32261252 rs7775397 T G NON_SYNONYMOUS_CODING C6orf10 MODERATE|MISSENSE|Aag/Cag|K398Q|561|C6orf10|protein_coding|CODING|ENST00000533191|exon_6_32260475_32261812 . . 0/1:99:176,0,255 . 6 32261252 rs7775397 T G NON_SYNONYMOUS_CODING C6orf10 MODERATE|MISSENSE|Aag/Cag|K399Q|562|C6orf10|protein_coding|CODING|ENST00000375015|exon_6_32260475_32261812 . . 0/1:99:176,0,255 . 6 32261252 rs7775397 T G NON_SYNONYMOUS_CODING C6orf10 MODERATE|MISSENSE|Aag/Cag|K400Q|563|C6orf10|protein_coding|CODING|ENST00000447241|exon_6_32260475_32261812 . . 0/1:99:176,0,255 . 6 32303692 rs1265754 T A NON_SYNONYMOUS_CODING C6orf10 MODERATE|MISSENSE|Atc/Ttc|I127F|468|C6orf10|protein_coding|CODING|ENST00000442822|exon_6_32303689_32303709 . . 0/1:99:255,0,255 . 6 32303692 rs1265754 T A NON_SYNONYMOUS_CODING C6orf10 MODERATE|MISSENSE|Atc/Ttc|I127F|547|C6orf10|protein_coding|CODING|ENST00000527965|exon_6_32303689_32303709 . . 0/1:99:255,0,255 . 6 32303692 rs1265754 T A NON_SYNONYMOUS_CODING C6orf10 MODERATE|MISSENSE|Atc/Ttc|I134F|561|C6orf10|protein_coding|CODING|ENST00000533191|exon_6_32303689_32303709 . . 0/1:99:255,0,255 . 6 32303692 rs1265754 T A NON_SYNONYMOUS_CODING C6orf10 MODERATE|MISSENSE|Atc/Ttc|I134F|562|C6orf10|protein_coding|CODING|ENST00000375015|exon_6_32303689_32303709 . . 0/1:99:255,0,255 . 6 32303692 rs1265754 T A NON_SYNONYMOUS_CODING C6orf10 MODERATE|MISSENSE|Atc/Ttc|I148F|561|C6orf10|protein_coding|CODING|ENST00000375007|exon_6_32303689_32303709 . . 0/1:99:255,0,255 . 6 32303692 rs1265754 T A NON_SYNONYMOUS_CODING C6orf10 MODERATE|MISSENSE|Atc/Ttc|I150F|563|C6orf10|protein_coding|CODING|ENST00000447241|exon_6_32303689_32303709 . . 0/1:99:255,0,255 . 6 32362703 rs41521946 G T NON_SYNONYMOUS_CODING BTNL2 MODERATE|MISSENSE|cCa/cAa|P116Q|178|BTNL2|protein_coding|CODING|ENST00000544175|exon_6_32362513_32362802 . . . 0/1:54:51,0,198 6 32362703 rs41521946 G T NON_SYNONYMOUS_CODING BTNL2 MODERATE|MISSENSE|cCa/cAa|P183Q|245|BTNL2|protein_coding|CODING|ENST00000414363|exon_6_32362513_32362802 . . . 0/1:54:51,0,198 6 32362703 rs41521946 G T NON_SYNONYMOUS_CODING BTNL2 MODERATE|MISSENSE|cCa/cAa|P183Q|245|BTNL2|protein_coding|CODING|ENST00000540315|exon_6_32362513_32362802 . . . 0/1:54:51,0,198 6 32362703 rs41521946 G T NON_SYNONYMOUS_CODING BTNL2 MODERATE|MISSENSE|cCa/cAa|P299Q|388|BTNL2|protein_coding|CODING|ENST00000374995|exon_6_32362521_32362802 . . . 0/1:54:51,0,198 6 32362703 rs41521946 G T NON_SYNONYMOUS_CODING BTNL2 MODERATE|MISSENSE|cCa/cAa|P393Q|455|BTNL2|protein_coding|CODING|ENST00000374993|exon_6_32362513_32362802 . . . 0/1:54:51,0,198 6 32362703 rs41521946 G T NON_SYNONYMOUS_CODING BTNL2 MODERATE|MISSENSE|cCa/cAa|P393Q|482|BTNL2|protein_coding|CODING|ENST00000468270|exon_6_32362521_32362802 . . . 0/1:54:51,0,198 6 32362741 rs28362677 C T NON_SYNONYMOUS_CODING BTNL2 MODERATE|MISSENSE|atG/atA|M103I|178|BTNL2|protein_coding|CODING|ENST00000544175|exon_6_32362513_32362802 . . . 0/1:99:101,0,255 6 32362741 rs28362677 C T NON_SYNONYMOUS_CODING BTNL2 MODERATE|MISSENSE|atG/atA|M170I|245|BTNL2|protein_coding|CODING|ENST00000414363|exon_6_32362513_32362802 . . . 0/1:99:101,0,255 6 32362741 rs28362677 C T NON_SYNONYMOUS_CODING BTNL2 MODERATE|MISSENSE|atG/atA|M170I|245|BTNL2|protein_coding|CODING|ENST00000540315|exon_6_32362513_32362802 . . . 0/1:99:101,0,255 6 32362741 rs28362677 C T NON_SYNONYMOUS_CODING BTNL2 MODERATE|MISSENSE|atG/atA|M286I|388|BTNL2|protein_coding|CODING|ENST00000374995|exon_6_32362521_32362802 . . . 0/1:99:101,0,255 6 32362741 rs28362677 C T NON_SYNONYMOUS_CODING BTNL2 MODERATE|MISSENSE|atG/atA|M380I|455|BTNL2|protein_coding|CODING|ENST00000374993|exon_6_32362513_32362802 . . . 0/1:99:101,0,255 6 32362741 rs28362677 C T NON_SYNONYMOUS_CODING BTNL2 MODERATE|MISSENSE|atG/atA|M380I|482|BTNL2|protein_coding|CODING|ENST00000468270|exon_6_32362521_32362802 . . . 0/1:99:101,0,255 6 32362745 rs28362678 G A NON_SYNONYMOUS_CODING BTNL2 MODERATE|MISSENSE|cCg/cTg|P102L|178|BTNL2|protein_coding|CODING|ENST00000544175|exon_6_32362513_32362802 . . . 0/1:99:107,0,252 6 32362745 rs28362678 G A NON_SYNONYMOUS_CODING BTNL2 MODERATE|MISSENSE|cCg/cTg|P169L|245|BTNL2|protein_coding|CODING|ENST00000414363|exon_6_32362513_32362802 . . . 0/1:99:107,0,252 6 32362745 rs28362678 G A NON_SYNONYMOUS_CODING BTNL2 MODERATE|MISSENSE|cCg/cTg|P169L|245|BTNL2|protein_coding|CODING|ENST00000540315|exon_6_32362513_32362802 . . . 0/1:99:107,0,252 6 32362745 rs28362678 G A NON_SYNONYMOUS_CODING BTNL2 MODERATE|MISSENSE|cCg/cTg|P285L|388|BTNL2|protein_coding|CODING|ENST00000374995|exon_6_32362521_32362802 . . . 0/1:99:107,0,252 6 32362745 rs28362678 G A NON_SYNONYMOUS_CODING BTNL2 MODERATE|MISSENSE|cCg/cTg|P379L|455|BTNL2|protein_coding|CODING|ENST00000374993|exon_6_32362513_32362802 . . . 0/1:99:107,0,252 6 32362745 rs28362678 G A NON_SYNONYMOUS_CODING BTNL2 MODERATE|MISSENSE|cCg/cTg|P379L|482|BTNL2|protein_coding|CODING|ENST00000468270|exon_6_32362521_32362802 . . . 0/1:99:107,0,252 6 32489927 rs1136760 T A NON_SYNONYMOUS_CODING HLA-DRB5 MODERATE|MISSENSE|tAt/tTt|Y42F|266|HLA-DRB5|protein_coding|CODING|ENST00000374975|exon_6_32489682_32489951 1/1:21:84,12,0 . . . 6 32489940 rs1071747 G T NON_SYNONYMOUS_CODING HLA-DRB5 MODERATE|MISSENSE|Cag/Aag|Q38K|266|HLA-DRB5|protein_coding|CODING|ENST00000374975|exon_6_32489682_32489951 1/1:21:86,12,0 . . . 6 32497917 rs71549220 C A NON_SYNONYMOUS_CODING HLA-DRB5 MODERATE|MISSENSE|Gct/Tct|A29S|266|HLA-DRB5|protein_coding|CODING|ENST00000374975|exon_6_32497902_32498064 . . . 1/1:4:130,1,0 6 32548026 rs9269744 G C NON_SYNONYMOUS_CODING HLA-DRB1 MODERATE|MISSENSE|aCa/aGa|T262R|266|HLA-DRB1|protein_coding|CODING|ENST00000360004|exon_6_32548024_32548047 0/1:99:101,0,104 . . . 6 32549452 rs77637983 C G NON_SYNONYMOUS_CODING HLA-DRB1 MODERATE|MISSENSE|caG/caC|Q178H|266|HLA-DRB1|protein_coding|CODING|ENST00000360004|exon_6_32549334_32549615 . . 0/1:94:91,0,223 . 6 32605288 rs11545686 T C NON_SYNONYMOUS_CODING HLA-DQA1 MODERATE|MISSENSE|aTg/aCg|M18T|213|HLA-DQA1|protein_coding|CODING|ENST00000496318|exon_6_32605183_32605317 0/1:7:76,0,4 . . . 6 32605288 rs11545686 T C NON_SYNONYMOUS_CODING HLA-DQA1 MODERATE|MISSENSE|aTg/aCg|M18T|23|HLA-DQA1|protein_coding|CODING|ENST00000422863|exon_6_32605198_32605308 0/1:7:76,0,4 . . . 6 32605288 rs11545686 T C NON_SYNONYMOUS_CODING HLA-DQA1 MODERATE|MISSENSE|aTg/aCg|M18T|255|HLA-DQA1|protein_coding|CODING|ENST00000343139|exon_6_32605134_32605317 0/1:7:76,0,4 . . . 6 32605288 rs11545686 T C NON_SYNONYMOUS_CODING HLA-DQA1 MODERATE|MISSENSE|aTg/aCg|M18T|255|HLA-DQA1|protein_coding|CODING|ENST00000374949|exon_6_32605197_32605317 0/1:7:76,0,4 . . . 6 32605288 rs11545686 T C NON_SYNONYMOUS_CODING HLA-DQA1 MODERATE|MISSENSE|aTg/aCg|M18T|255|HLA-DQA1|protein_coding|CODING|ENST00000395363|exon_6_32605178_32605317 0/1:7:76,0,4 . . . 6 32605288 rs11545686 T C NON_SYNONYMOUS_CODING HLA-DQA1 MODERATE|MISSENSE|aTg/aCg|M18T|255|HLA-DQA1|protein_coding|CODING|ENST00000395364|exon_6_32605134_32605317 0/1:7:76,0,4 . . . 6 32629809 rs701564 C T NON_SYNONYMOUS_CODING HLA-DQB1 MODERATE|MISSENSE|cGt/cAt|R109H|134|HLA-DQB1|protein_coding|CODING|ENST00000399082|exon_6_32629744_32630025 0/1:99:111,0,172 0/1:91:88,0,187 . . 6 32629809 rs701564 C T NON_SYNONYMOUS_CODING HLA-DQB1 MODERATE|MISSENSE|cGt/cAt|R135H|143|HLA-DQB1|protein_coding|CODING|ENST00000447884|exon_6_32629779_32630025 0/1:99:111,0,172 0/1:91:88,0,187 . . 6 32629809 rs701564 C T NON_SYNONYMOUS_CODING HLA-DQB1 MODERATE|MISSENSE|cGt/cAt|R199H|224|HLA-DQB1|protein_coding|CODING|ENST00000399079|exon_6_32629744_32630025 0/1:99:111,0,172 0/1:91:88,0,187 . . 6 32629809 rs701564 C T NON_SYNONYMOUS_CODING HLA-DQB1 MODERATE|MISSENSE|cGt/cAt|R199H|261|HLA-DQB1|protein_coding|CODING|ENST00000399084|exon_6_32629744_32630025 0/1:99:111,0,172 0/1:91:88,0,187 . . 6 32629809 rs701564 C T NON_SYNONYMOUS_CODING HLA-DQB1 MODERATE|MISSENSE|cGt/cAt|R199H|261|HLA-DQB1|protein_coding|CODING|ENST00000434651|exon_6_32629744_32630025 0/1:99:111,0,172 0/1:91:88,0,187 . . 6 32629809 rs701564 C T NON_SYNONYMOUS_CODING HLA-DQB1 MODERATE|MISSENSE|cGt/cAt|R199H|269|HLA-DQB1|protein_coding|CODING|ENST00000374943|exon_6_32629744_32630025 0/1:99:111,0,172 0/1:91:88,0,187 . . 6 32714143 rs2071800 G A NON_SYNONYMOUS_CODING HLA-DQA2 MODERATE|MISSENSE|gGt/gAt|G247D|255|HLA-DQA2|protein_coding|CODING|ENST00000374940|exon_6_32714017_32714191 . 0/1:99:206,0,158 . . 6 32797847 rs151064661 T C NON_SYNONYMOUS_CODING TAP2 MODERATE|MISSENSE|gAg/gGg|E552G|653|TAP2|protein_coding|CODING|ENST00000374899|exon_6_32797707_32797866 . 0/1:99:255,0,157 . . 6 32797847 rs151064661 T C NON_SYNONYMOUS_CODING TAP2 MODERATE|MISSENSE|gAg/gGg|E552G|686|TAP2|protein_coding|CODING|ENST00000374897|exon_6_32797707_32797866 . 0/1:99:255,0,157 . . 6 32797847 rs151064661 T C NON_SYNONYMOUS_CODING TAP2 MODERATE|MISSENSE|gAg/gGg|E552G|768|TAP2|protein_coding|CODING|ENST00000556934|exon_6_32797707_32797866 . 0/1:99:255,0,157 . . 6 32797847 rs151064661 T C NON_SYNONYMOUS_CODING XXbac-BPG246D15.9.1 MODERATE|MISSENSE|gAg/gGg|E552G|842|XXbac-BPG246D15.9.1|protein_coding|CODING|ENST00000452392|exon_6_32797707_32797866 . 0/1:99:255,0,157 . . 6 32800412 rs1800454 C T NON_SYNONYMOUS_CODING TAP2 MODERATE|MISSENSE|Gta/Ata|V379I|653|TAP2|protein_coding|CODING|ENST00000374899|exon_6_32800404_32800601 . 0/1:99:200,0,255 . . 6 32800412 rs1800454 C T NON_SYNONYMOUS_CODING TAP2 MODERATE|MISSENSE|Gta/Ata|V379I|686|TAP2|protein_coding|CODING|ENST00000374897|exon_6_32800404_32800601 . 0/1:99:200,0,255 . . 6 32800412 rs1800454 C T NON_SYNONYMOUS_CODING TAP2 MODERATE|MISSENSE|Gta/Ata|V379I|768|TAP2|protein_coding|CODING|ENST00000556934|exon_6_32800404_32800601 . 0/1:99:200,0,255 . . 6 32800412 rs1800454 C T NON_SYNONYMOUS_CODING XXbac-BPG246D15.9.1 MODERATE|MISSENSE|Gta/Ata|V379I|842|XXbac-BPG246D15.9.1|protein_coding|CODING|ENST00000452392|exon_6_32800404_32800601 . 0/1:99:200,0,255 . . 6 32802938 rs140654840 C T NON_SYNONYMOUS_CODING TAP2 MODERATE|MISSENSE|cGc/cAc|R313H|653|TAP2|protein_coding|CODING|ENST00000374899|exon_6_32802931_32803136 . . . 0/1:99:178,0,194 6 32802938 rs140654840 C T NON_SYNONYMOUS_CODING TAP2 MODERATE|MISSENSE|cGc/cAc|R313H|686|TAP2|protein_coding|CODING|ENST00000374897|exon_6_32802931_32803136 . . . 0/1:99:178,0,194 6 32802938 rs140654840 C T NON_SYNONYMOUS_CODING TAP2 MODERATE|MISSENSE|cGc/cAc|R313H|768|TAP2|protein_coding|CODING|ENST00000556934|exon_6_32802931_32803136 . . . 0/1:99:178,0,194 6 32802938 rs140654840 C T NON_SYNONYMOUS_CODING XXbac-BPG246D15.9.1 MODERATE|MISSENSE|cGc/cAc|R313H|842|XXbac-BPG246D15.9.1|protein_coding|CODING|ENST00000452392|exon_6_32802931_32803136 . . . 0/1:99:178,0,194 6 32825090 rs17587 G A NON_SYNONYMOUS_CODING PSMB9 MODERATE|MISSENSE|cGc/cAc|R37H|130|PSMB9|protein_coding|CODING|ENST00000414474|exon_6_32825040_32825171 0/1:99:109,0,238 0/1:99:164,0,156 0/1:99:158,0,184 . 6 32825090 rs17587 G A NON_SYNONYMOUS_CODING PSMB9 MODERATE|MISSENSE|cGc/cAc|R37H|196|PSMB9|protein_coding|CODING|ENST00000395330|exon_6_32825040_32825171 0/1:99:109,0,238 0/1:99:164,0,156 0/1:99:158,0,184 . 6 32825090 rs17587 G A NON_SYNONYMOUS_CODING PSMB9 MODERATE|MISSENSE|cGc/cAc|R60H|219|PSMB9|protein_coding|CODING|ENST00000374859|exon_6_32825040_32825171 0/1:99:109,0,238 0/1:99:164,0,156 0/1:99:158,0,184 . 6 32917412 rs17214044 G A NON_SYNONYMOUS_CODING HLA-DMA MODERATE|MISSENSE|Cgc/Tgc|R115C|166|HLA-DMA|protein_coding|CODING|ENST00000395305|exon_6_32917388_32917666 0/1:99:255,0,187 0/1:99:255,0,255 . . 6 32917412 rs17214044 G A NON_SYNONYMOUS_CODING HLA-DMA MODERATE|MISSENSE|Cgc/Tgc|R176C|227|HLA-DMA|protein_coding|CODING|ENST00000395303|exon_6_32917388_32917564 0/1:99:255,0,187 0/1:99:255,0,255 . . 6 32917412 rs17214044 G A NON_SYNONYMOUS_CODING HLA-DMA MODERATE|MISSENSE|Cgc/Tgc|R210C|261|HLA-DMA|protein_coding|CODING|ENST00000374843|exon_6_32917388_32917666 0/1:99:255,0,187 0/1:99:255,0,255 . . 6 32917412 rs17214044 G A NON_SYNONYMOUS_CODING HLA-DMA MODERATE|MISSENSE|Cgc/Tgc|R240C|289|HLA-DMA|protein_coding|CODING|ENST00000456800|exon_6_32917388_32917666 0/1:99:255,0,187 0/1:99:255,0,255 . . 6 33036549 rs17509489 T C NON_SYNONYMOUS_CODING HLA-DPA1 MODERATE|MISSENSE|Acg/Gcg|T188A|211|HLA-DPA1|protein_coding|CODING|ENST00000448544|exon_6_33036475_33036581 0/1:99:232,0,202 . . . 6 33036549 rs17509489 T C NON_SYNONYMOUS_CODING HLA-DPA1 MODERATE|MISSENSE|Acg/Gcg|T221A|260|HLA-DPA1|protein_coding|CODING|ENST00000419277|exon_6_33036415_33036581 0/1:99:232,0,202 . . . 6 33036549 rs17509489 T C NON_SYNONYMOUS_CODING HLA-DPA1 MODERATE|MISSENSE|Acg/Gcg|T221A|260|HLA-DPA1|protein_coding|CODING|ENST00000428995|exon_6_33036415_33036581 0/1:99:232,0,202 . . . 6 33037045 rs41562016 G C NON_SYNONYMOUS_CODING HLA-DPA1 MODERATE|MISSENSE|Cct/Gct|P127A|208|HLA-DPA1|protein_coding|CODING|ENST00000453337|exon_6_33036796_33037077 0/1:99:161,0,222 . . . 6 33037045 rs41562016 G C NON_SYNONYMOUS_CODING HLA-DPA1 MODERATE|MISSENSE|Cct/Gct|P127A|260|HLA-DPA1|protein_coding|CODING|ENST00000419277|exon_6_33036796_33037077 0/1:99:161,0,222 . . . 6 33037045 rs41562016 G C NON_SYNONYMOUS_CODING HLA-DPA1 MODERATE|MISSENSE|Cct/Gct|P127A|260|HLA-DPA1|protein_coding|CODING|ENST00000428995|exon_6_33036796_33037077 0/1:99:161,0,222 . . . 6 33037045 rs41562016 G C NON_SYNONYMOUS_CODING HLA-DPA1 MODERATE|MISSENSE|Cct/Gct|P94A|211|HLA-DPA1|protein_coding|CODING|ENST00000448544|exon_6_33036796_33037066 0/1:99:161,0,222 . . . 6 33037619 rs2308907 G T NON_SYNONYMOUS_CODING HLA-DPA1 MODERATE|MISSENSE|Cca/Aca|P49T|208|HLA-DPA1|protein_coding|CODING|ENST00000453337|exon_6_33037418_33037663 0/1:54:51,0,255 . . . 6 33037619 rs2308907 G T NON_SYNONYMOUS_CODING HLA-DPA1 MODERATE|MISSENSE|Cca/Aca|P49T|211|HLA-DPA1|protein_coding|CODING|ENST00000448544|exon_6_33037506_33037663 0/1:54:51,0,255 . . . 6 33037619 rs2308907 G T NON_SYNONYMOUS_CODING HLA-DPA1 MODERATE|MISSENSE|Cca/Aca|P49T|260|HLA-DPA1|protein_coding|CODING|ENST00000419277|exon_6_33037418_33037663 0/1:54:51,0,255 . . . 6 33037619 rs2308907 G T NON_SYNONYMOUS_CODING HLA-DPA1 MODERATE|MISSENSE|Cca/Aca|P49T|260|HLA-DPA1|protein_coding|CODING|ENST00000428995|exon_6_33037418_33037663 0/1:54:51,0,255 . . . 6 33043865 rs41558014 C T NON_SYNONYMOUS_CODING HLA-DPB1 MODERATE|MISSENSE|aCg/aTg|T16M|123|HLA-DPB1|protein_coding|CODING|ENST00000535465|exon_6_33043743_33043918 0/1:99:137,0,255 . . . 6 33043865 rs41558014 C T NON_SYNONYMOUS_CODING HLA-DPB1 MODERATE|MISSENSE|aCg/aTg|T16M|228|HLA-DPB1|protein_coding|CODING|ENST00000411942|exon_6_33043749_33043918 0/1:99:137,0,255 . . . 6 33043865 rs41558014 C T NON_SYNONYMOUS_CODING HLA-DPB1 MODERATE|MISSENSE|aCg/aTg|T16M|258|HLA-DPB1|protein_coding|CODING|ENST00000418931|exon_6_33043703_33043918 0/1:99:137,0,255 . . . 6 33048661 rs1042151 A G NON_SYNONYMOUS_CODING HLA-DPB1 MODERATE|MISSENSE|Atg/Gtg|M105V|123|HLA-DPB1|protein_coding|CODING|ENST00000535465|exon_6_33048449_33049073 . . 0/1:58:55,0,221 . 6 33048661 rs1042151 A G NON_SYNONYMOUS_CODING HLA-DPB1 MODERATE|MISSENSE|Atg/Gtg|M105V|228|HLA-DPB1|protein_coding|CODING|ENST00000411942|exon_6_33048449_33048712 . . 0/1:58:55,0,221 . 6 33048661 rs1042151 A G NON_SYNONYMOUS_CODING HLA-DPB1 MODERATE|MISSENSE|Atg/Gtg|M105V|258|HLA-DPB1|protein_coding|CODING|ENST00000418931|exon_6_33048449_33048712 . . 0/1:58:55,0,221 . 6 33048661 rs1042151 A G NON_SYNONYMOUS_CODING HLA-DPB1 MODERATE|MISSENSE|Atg/Gtg|M82V|228|HLA-DPB1|protein_coding|CODING|ENST00000428835|exon_6_33048466_33048712 . . 0/1:58:55,0,221 . 6 33048663 rs1042153 G A NON_SYNONYMOUS_CODING HLA-DPB1 MODERATE|MISSENSE|atG/atA|M105I|123|HLA-DPB1|protein_coding|CODING|ENST00000535465|exon_6_33048449_33049073 0/1:74:71,0,244 . . . 6 33048663 rs1042153 G A NON_SYNONYMOUS_CODING HLA-DPB1 MODERATE|MISSENSE|atG/atA|M105I|228|HLA-DPB1|protein_coding|CODING|ENST00000411942|exon_6_33048449_33048712 0/1:74:71,0,244 . . . 6 33048663 rs1042153 G A NON_SYNONYMOUS_CODING HLA-DPB1 MODERATE|MISSENSE|atG/atA|M105I|258|HLA-DPB1|protein_coding|CODING|ENST00000418931|exon_6_33048449_33048712 0/1:74:71,0,244 . . . 6 33048663 rs1042153 G A NON_SYNONYMOUS_CODING HLA-DPB1 MODERATE|MISSENSE|atG/atA|M82I|228|HLA-DPB1|protein_coding|CODING|ENST00000428835|exon_6_33048466_33048712 0/1:74:71,0,244 . . . 6 33053577 rs9276 G A NON_SYNONYMOUS_CODING HLA-DPB1 MODERATE|MISSENSE|cGg/cAg|R193Q|228|HLA-DPB1|protein_coding|CODING|ENST00000411942|exon_6_33053556_33053666 . . 0/1:99:201,0,255 . 6 33053577 rs9276 G A NON_SYNONYMOUS_CODING HLA-DPB1 MODERATE|MISSENSE|cGg/cAg|R200Q|228|HLA-DPB1|protein_coding|CODING|ENST00000428835|exon_6_33053556_33053666 . . 0/1:99:201,0,255 . 6 33053577 rs9276 G A NON_SYNONYMOUS_CODING HLA-DPB1 MODERATE|MISSENSE|cGg/cAg|R223Q|258|HLA-DPB1|protein_coding|CODING|ENST00000418931|exon_6_33053556_33053666 . . 0/1:99:201,0,255 . 6 33053577 rs9276 G A NON_SYNONYMOUS_CODING HLA-DPB1 MODERATE|MISSENSE|cGg/cAg|R34Q|82|HLA-DPB1|protein_coding|CODING|ENST00000422592|exon_6_33053556_33053605 . . 0/1:99:201,0,255 . 6 33172479 rs138620921 G T NON_SYNONYMOUS_CODING HSD17B8 MODERATE|MISSENSE|Gca/Tca|A12S|261|HSD17B8|protein_coding|CODING|ENST00000374662|exon_6_33172419_33172497 0/1:99:219,0,255 . . . 6 33260215 rs35273540 C T NON_SYNONYMOUS_CODING RGL2 MODERATE|MISSENSE|gGg/gAg|G569E|658|RGL2|protein_coding|CODING|ENST00000421215|exon_6_33260207_33260321 . . . 0/1:99:242,0,216 6 33260215 rs35273540 C T NON_SYNONYMOUS_CODING RGL2 MODERATE|MISSENSE|gGg/gAg|G705E|777|RGL2|protein_coding|CODING|ENST00000497454|exon_6_33260207_33260321 . . . 0/1:99:242,0,216 6 33385953 rs1705003 A G NON_SYNONYMOUS_CODING CUTA MODERATE|MISSENSE|Tcg/Ccg|S4P|198|CUTA|protein_coding|CODING|ENST00000374500|exon_6_33385864_33386094 . . . 0/1:99:255,0,187 6 34214348 rs34410712 C T NON_SYNONYMOUS_CODING C6orf1 MODERATE|MISSENSE|atG/atA|M121I|139|C6orf1|protein_coding|CODING|ENST00000335352|exon_6_34214172_34214645 . . 0/1:99:255,0,174 . 6 34214348 rs34410712 C T NON_SYNONYMOUS_CODING C6orf1 MODERATE|MISSENSE|atG/atA|M121I|139|C6orf1|protein_coding|CODING|ENST00000413013|exon_6_34214172_34214645 . . 0/1:99:255,0,174 . 6 34214348 rs34410712 C T NON_SYNONYMOUS_CODING C6orf1 MODERATE|MISSENSE|atG/atA|M141I|159|C6orf1|protein_coding|CODING|ENST00000394990|exon_6_34214172_34214645 . . 0/1:99:255,0,174 . 6 34214348 rs34410712 C T NON_SYNONYMOUS_CODING C6orf1 MODERATE|MISSENSE|atG/atA|M141I|159|C6orf1|protein_coding|CODING|ENST00000468145|exon_6_34214262_34214645 . . 0/1:99:255,0,174 . 6 34214348 rs34410712 C T NON_SYNONYMOUS_CODING C6orf1 MODERATE|MISSENSE|atG/atA|M141I|159|C6orf1|protein_coding|CODING|ENST00000476320|exon_6_34214157_34214645 . . 0/1:99:255,0,174 . 6 34214348 rs34410712 C T NON_SYNONYMOUS_CODING C6orf1 MODERATE|MISSENSE|atG/atA|M141I|159|C6orf1|protein_coding|CODING|ENST00000481533|exon_6_34214172_34214645 . . 0/1:99:255,0,174 . 6 34824107 rs16894945 A C NON_SYNONYMOUS_CODING UHRF1BP1 MODERATE|MISSENSE|aaA/aaC|K404N|1400|UHRF1BP1|protein_coding|CODING|ENST00000452449|exon_6_34824016_34824186 . 0/1:99:255,0,238 . 0/1:99:207,0,222 6 34824107 rs16894945 A C NON_SYNONYMOUS_CODING UHRF1BP1 MODERATE|MISSENSE|aaA/aaC|K404N|1440|UHRF1BP1|protein_coding|CODING|ENST00000192788|exon_6_34824016_34824186 . 0/1:99:255,0,238 . 0/1:99:207,0,222 6 34827085 rs9469913 A T NON_SYNONYMOUS_CODING UHRF1BP1 MODERATE|MISSENSE|caA/caT|Q984H|1400|UHRF1BP1|protein_coding|CODING|ENST00000452449|exon_6_34825901_34827348 . . . 0/1:99:219,0,252 6 34827085 rs9469913 A T NON_SYNONYMOUS_CODING UHRF1BP1 MODERATE|MISSENSE|caA/caT|Q984H|1440|UHRF1BP1|protein_coding|CODING|ENST00000192788|exon_6_34825901_34827348 . . . 0/1:99:219,0,252 6 35209353 rs3800381 C T NON_SYNONYMOUS_CODING SCUBE3 MODERATE|MISSENSE|tCg/tTg|S410L|993|SCUBE3|protein_coding|CODING|ENST00000274938|exon_6_35209320_35209436 0/1:99:179,0,251 . . . 6 35209353 rs3800381 C T NON_SYNONYMOUS_CODING SCUBE3 MODERATE|MISSENSE|tCg/tTg|S426L|1009|SCUBE3|protein_coding|CODING|ENST00000394681|exon_6_35209320_35209436 0/1:99:179,0,251 . . . 6 35253974 rs2228265 C T NON_SYNONYMOUS_CODING ZNF76 MODERATE|MISSENSE|aCg/aTg|T48M|339|ZNF76|protein_coding|CODING|ENST00000469195|exon_6_35253905_35253985 . . . 0/1:99:205,0,199 6 35253974 rs2228265 C T NON_SYNONYMOUS_CODING ZNF76 MODERATE|MISSENSE|aCg/aTg|T48M|402|ZNF76|protein_coding|CODING|ENST00000448999|exon_6_35253905_35253985 . . . 0/1:99:205,0,199 6 35253974 rs2228265 C T NON_SYNONYMOUS_CODING ZNF76 MODERATE|MISSENSE|aCg/aTg|T48M|428|ZNF76|protein_coding|CODING|ENST00000417184|exon_6_35253905_35253985 . . . 0/1:99:205,0,199 6 35253974 rs2228265 C T NON_SYNONYMOUS_CODING ZNF76 MODERATE|MISSENSE|aCg/aTg|T48M|515|ZNF76|protein_coding|CODING|ENST00000339411|exon_6_35253905_35253985 . . . 0/1:99:205,0,199 6 35253974 rs2228265 C T NON_SYNONYMOUS_CODING ZNF76 MODERATE|MISSENSE|aCg/aTg|T48M|544|ZNF76|protein_coding|CODING|ENST00000440666|exon_6_35253905_35253985 . . . 0/1:99:205,0,199 6 35253974 rs2228265 C T NON_SYNONYMOUS_CODING ZNF76 MODERATE|MISSENSE|aCg/aTg|T48M|570|ZNF76|protein_coding|CODING|ENST00000373953|exon_6_35253905_35253985 . . . 0/1:99:205,0,199 6 35428345 rs141551053 C T NON_SYNONYMOUS_CODING FANCE MODERATE|MISSENSE|Ccc/Tcc|P445S|536|FANCE|protein_coding|CODING|ENST00000229769|exon_6_35428329_35428395 . 0/1:99:199,0,248 . . 6 35430686 rs9462088 G A NON_SYNONYMOUS_CODING FANCE MODERATE|MISSENSE|Gct/Act|A502T|536|FANCE|protein_coding|CODING|ENST00000229769|exon_6_35430566_35430691 . 0/1:99:198,0,255 . . 6 35803103 rs35124200 C T NON_SYNONYMOUS_CODING SRPK1 MODERATE|MISSENSE|cGg/cAg|R541Q|547|SRPK1|protein_coding|CODING|ENST00000373822|exon_6_35800811_35803265 0/1:99:195,0,255 . . . 6 35803103 rs35124200 C T NON_SYNONYMOUS_CODING SRPK1 MODERATE|MISSENSE|cGg/cAg|R633Q|639|SRPK1|protein_coding|CODING|ENST00000423325|exon_6_35800811_35803265 0/1:99:195,0,255 . . . 6 35803103 rs35124200 C T NON_SYNONYMOUS_CODING SRPK1 MODERATE|MISSENSE|cGg/cAg|R649Q|655|SRPK1|protein_coding|CODING|ENST00000373825|exon_6_35800743_35803265 0/1:99:195,0,255 . . . 6 35803103 rs35124200 C T NON_SYNONYMOUS_CODING SRPK1 MODERATE|MISSENSE|cGg/cAg|R665Q|671|SRPK1|protein_coding|CODING|ENST00000361690|exon_6_35800811_35803265 0/1:99:195,0,255 . . . 6 35911856 rs61741366 G A NON_SYNONYMOUS_CODING SLC26A8 MODERATE|MISSENSE|Ccc/Tcc|P807S|865|SLC26A8|protein_coding|CODING|ENST00000394602|exon_6_35911297_35912117 0/1:95:92,0,213 . . . 6 35911856 rs61741366 G A NON_SYNONYMOUS_CODING SLC26A8 MODERATE|MISSENSE|Ccc/Tcc|P912S|970|SLC26A8|protein_coding|CODING|ENST00000355574|exon_6_35911298_35912117 0/1:95:92,0,213 . . . 6 35911856 rs61741366 G A NON_SYNONYMOUS_CODING SLC26A8 MODERATE|MISSENSE|Ccc/Tcc|P912S|970|SLC26A8|protein_coding|CODING|ENST00000490799|exon_6_35911291_35912117 0/1:95:92,0,213 . . . 6 35960390 rs17707331 C T NON_SYNONYMOUS_CODING SLC26A8 MODERATE|MISSENSE|aGt/aAt|S230N|970|SLC26A8|protein_coding|CODING|ENST00000355574|exon_6_35960287_35960451 . . . 0/1:99:255,0,255 6 35960390 rs17707331 C T NON_SYNONYMOUS_CODING SLC26A8 MODERATE|MISSENSE|aGt/aAt|S230N|970|SLC26A8|protein_coding|CODING|ENST00000490799|exon_6_35960287_35960451 . . . 0/1:99:255,0,255 6 35967772 rs17713154 T C NON_SYNONYMOUS_CODING SLC26A8 MODERATE|MISSENSE|Att/Gtt|I148V|865|SLC26A8|protein_coding|CODING|ENST00000394602|exon_6_35967769_35967885 . . . 0/1:99:246,0,255 6 35967772 rs17713154 T C NON_SYNONYMOUS_CODING SLC26A8 MODERATE|MISSENSE|Att/Gtt|I148V|970|SLC26A8|protein_coding|CODING|ENST00000355574|exon_6_35967769_35967885 . . . 0/1:99:246,0,255 6 35967772 rs17713154 T C NON_SYNONYMOUS_CODING SLC26A8 MODERATE|MISSENSE|Att/Gtt|I148V|970|SLC26A8|protein_coding|CODING|ENST00000490799|exon_6_35967769_35967885 . . . 0/1:99:246,0,255 6 37012780 rs41272212 G A NON_SYNONYMOUS_CODING COX6A1P2 MODERATE|MISSENSE|Ggg/Agg|G49R|109|COX6A1P2|protein_coding|CODING|ENST00000423336|exon_6_37012607_37013177 . . 1/1:99:255,81,0 . 6 38750888 rs3823430 A G NON_SYNONYMOUS_CODING DNAH8 MODERATE|MISSENSE|Atc/Gtc|I573V|4454|DNAH8|protein_coding|CODING|ENST00000441566|exon_6_38750780_38750915 1/1:99:255,117,0 . 0/1:99:255,0,255 0/1:99:251,0,255 6 38750888 rs3823430 A G NON_SYNONYMOUS_CODING DNAH8 MODERATE|MISSENSE|Atc/Gtc|I573V|4490|DNAH8|protein_coding|CODING|ENST00000359357|exon_6_38750780_38750915 1/1:99:255,117,0 . 0/1:99:255,0,255 0/1:99:251,0,255 6 38750888 rs3823430 A G NON_SYNONYMOUS_CODING DNAH8 MODERATE|MISSENSE|Atc/Gtc|I778V|4695|DNAH8|protein_coding|CODING|ENST00000327475|exon_6_38750780_38750915 1/1:99:255,117,0 . 0/1:99:255,0,255 0/1:99:251,0,255 6 38750888 rs3823430 A G NON_SYNONYMOUS_CODING DNAH8 MODERATE|MISSENSE|Atc/Gtc|I790V|4188|DNAH8|protein_coding|CODING|ENST00000449981|exon_6_38750780_38750915 1/1:99:255,117,0 . 0/1:99:255,0,255 0/1:99:251,0,255 6 38800164 rs9357283 G A NON_SYNONYMOUS_CODING DNAH8 MODERATE|MISSENSE|Gaa/Aaa|E1202K|4454|DNAH8|protein_coding|CODING|ENST00000441566|exon_6_38800098_38800211 1/1:99:255,117,0 . 0/1:99:248,0,255 . 6 38800164 rs9357283 G A NON_SYNONYMOUS_CODING DNAH8 MODERATE|MISSENSE|Gaa/Aaa|E1202K|4490|DNAH8|protein_coding|CODING|ENST00000359357|exon_6_38800098_38800211 1/1:99:255,117,0 . 0/1:99:248,0,255 . 6 38800164 rs9357283 G A NON_SYNONYMOUS_CODING DNAH8 MODERATE|MISSENSE|Gaa/Aaa|E1407K|4695|DNAH8|protein_coding|CODING|ENST00000327475|exon_6_38800098_38800211 1/1:99:255,117,0 . 0/1:99:248,0,255 . 6 38800164 rs9357283 G A NON_SYNONYMOUS_CODING DNAH8 MODERATE|MISSENSE|Gaa/Aaa|E1419K|4188|DNAH8|protein_coding|CODING|ENST00000449981|exon_6_38800098_38800211 1/1:99:255,117,0 . 0/1:99:248,0,255 . 6 39016675 rs10305421 G A NON_SYNONYMOUS_CODING GLP1R MODERATE|MISSENSE|aGg/aAg|R20K|463|GLP1R|protein_coding|CODING|ENST00000373256|exon_6_39016574_39016694 . . . 0/1:99:153,0,133 6 39040708 rs146340667 G A NON_SYNONYMOUS_CODING GLP1R MODERATE|MISSENSE|Gtc/Atc|V194I|463|GLP1R|protein_coding|CODING|ENST00000373256|exon_6_39040638_39040791 0/1:99:202,0,255 . . . 6 39278694 . AAAGAAGAAG AAAGAAG CODON_DELETION KCNK17 MODERATE||tccttc/tcc|SF106S|271|KCNK17|protein_coding|CODING|ENST00000453413|exon_6_39278669_39278783 0/1:99:145,0,252 . . . 6 39278694 . AAAGAAGAAG AAAGAAG CODON_DELETION KCNK17 MODERATE||tccttc/tcc|SF106S|332|KCNK17|protein_coding|CODING|ENST00000373231|exon_6_39278669_39278783 0/1:99:145,0,252 . . . 6 39581030 rs200974739 C T NON_SYNONYMOUS_CODING KIF6 MODERATE|MISSENSE|Gca/Aca|A192T|758|KIF6|protein_coding|CODING|ENST00000538893|exon_6_39580965_39581094 . . 0/1:99:242,0,255 . 6 39581030 rs200974739 C T NON_SYNONYMOUS_CODING KIF6 MODERATE|MISSENSE|Gca/Aca|A192T|797|KIF6|protein_coding|CODING|ENST00000373215|exon_6_39580965_39581094 . . 0/1:99:242,0,255 . 6 39581030 rs200974739 C T NON_SYNONYMOUS_CODING KIF6 MODERATE|MISSENSE|Gca/Aca|A192T|797|KIF6|protein_coding|CODING|ENST00000373216|exon_6_39580965_39581094 . . 0/1:99:242,0,255 . 6 39581030 rs200974739 C T NON_SYNONYMOUS_CODING KIF6 MODERATE|MISSENSE|Gca/Aca|A192T|814|KIF6|protein_coding|CODING|ENST00000287152|exon_6_39580965_39581094 . . 0/1:99:242,0,255 . 6 39581030 rs200974739 C T NON_SYNONYMOUS_CODING KIF6 MODERATE|MISSENSE|Gca/Aca|A31T|653|KIF6|protein_coding|CODING|ENST00000373213|exon_6_39580965_39581094 . . 0/1:99:242,0,255 . 6 40998167 rs742493 T C NON_SYNONYMOUS_CODING UNC5CL MODERATE|MISSENSE|Aga/Gga|R432G|518|UNC5CL|protein_coding|CODING|ENST00000244565|exon_6_40998127_40998240 . . . 0/1:99:255,0,184 6 40998167 rs742493 T C NON_SYNONYMOUS_CODING UNC5CL MODERATE|MISSENSE|Aga/Gga|R432G|518|UNC5CL|protein_coding|CODING|ENST00000373164|exon_6_40998127_40998240 . . . 0/1:99:255,0,184 6 41310705 rs142955741 C T NON_SYNONYMOUS_CODING NCR2 MODERATE|MISSENSE|Cca/Tca|P232S|258|NCR2|protein_coding|CODING|ENST00000373083|exon_6_41310656_41310762 . . . 0/1:99:197,0,255 6 41310705 rs142955741 C T NON_SYNONYMOUS_CODING NCR2 MODERATE|MISSENSE|Cca/Tca|P244S|270|NCR2|protein_coding|CODING|ENST00000373086|exon_6_41310656_41310762 . . . 0/1:99:197,0,255 6 41895150 rs2296916 G A NON_SYNONYMOUS_CODING BYSL MODERATE|MISSENSE|Gag/Aag|E103K|437|BYSL|protein_coding|CODING|ENST00000230340|exon_6_41895112_41895274 . . 0/1:99:179,0,218 . 6 41900406 rs3828855 C T NON_SYNONYMOUS_CODING BYSL MODERATE|MISSENSE|Ccc/Tcc|P426S|437|BYSL|protein_coding|CODING|ENST00000230340|exon_6_41900099_41900784 . . 0/1:99:255,0,244 . 6 41903783 rs3218102 G A NON_SYNONYMOUS_CODING CCND3 MODERATE|MISSENSE|Ctc/Ttc|L132F|195|CCND3|protein_coding|CODING|ENST00000510503|exon_6_41903173_41903845 . . . 0/1:99:173,0,174 6 42073501 . G A NON_SYNONYMOUS_CODING C6orf132 MODERATE|MISSENSE|Cca/Tca|P717S|1188|C6orf132|protein_coding|CODING|ENST00000341865|exon_6_42072201_42075321 . 0/1:99:184,0,179 . . 6 42073759 rs34879933 G A NON_SYNONYMOUS_CODING C6orf132 MODERATE|MISSENSE|Ctc/Ttc|L631F|1188|C6orf132|protein_coding|CODING|ENST00000341865|exon_6_42072201_42075321 . . 0/1:99:199,0,198 . 6 42185541 . T C NON_SYNONYMOUS_CODING MRPS10 MODERATE|MISSENSE|cAg/cGg|Q16R|201|MRPS10|protein_coding|CODING|ENST00000053468|exon_6_42185540_42185603 . 0/1:99:237,0,241 . . 6 42196127 rs11751765 C T NON_SYNONYMOUS_CODING TRERF1 MODERATE|MISSENSE|Gat/Aat|D1104N|1117|TRERF1|protein_coding|CODING|ENST00000354325|exon_6_42195887_42196407 . . . 0/1:99:165,0,255 6 42196127 rs11751765 C T NON_SYNONYMOUS_CODING TRERF1 MODERATE|MISSENSE|Gat/Aat|D1116N|1129|TRERF1|protein_coding|CODING|ENST00000340840|exon_6_42195887_42196407 . . . 0/1:99:165,0,255 6 42196127 rs11751765 C T NON_SYNONYMOUS_CODING TRERF1 MODERATE|MISSENSE|Gat/Aat|D1116N|1129|TRERF1|protein_coding|CODING|ENST00000372917|exon_6_42192669_42196407 . . . 0/1:99:165,0,255 6 42196127 rs11751765 C T NON_SYNONYMOUS_CODING TRERF1 MODERATE|MISSENSE|Gat/Aat|D1187N|1200|TRERF1|protein_coding|CODING|ENST00000372922|exon_6_42192963_42196407 . . . 0/1:99:165,0,255 6 42196127 rs11751765 C T NON_SYNONYMOUS_CODING TRERF1 MODERATE|MISSENSE|Gat/Aat|D1207N|1220|TRERF1|protein_coding|CODING|ENST00000541110|exon_6_42192669_42196407 . . . 0/1:99:165,0,255 6 42893121 rs36111725 G A NON_SYNONYMOUS_CODING PTCRA MODERATE|MISSENSE|Gca/Aca|A158T|256|PTCRA|protein_coding|CODING|ENST00000441198|exon_6_42892999_42893573 0/1:99:164,0,162 . . . 6 42893121 rs36111725 G A NON_SYNONYMOUS_CODING PTCRA MODERATE|MISSENSE|Gca/Aca|A183T|281|PTCRA|protein_coding|CODING|ENST00000304672|exon_6_42892999_42893573 0/1:99:164,0,162 . . . 6 42893121 rs36111725 G A NON_SYNONYMOUS_CODING PTCRA MODERATE|MISSENSE|Gca/Aca|A76T|174|PTCRA|protein_coding|CODING|ENST00000446507|exon_6_42892999_42893573 0/1:99:164,0,162 . . . 6 42893415 rs61743125 G A NON_SYNONYMOUS_CODING PTCRA MODERATE|MISSENSE|Gcc/Acc|A127T|127|PTCRA|protein_coding|CODING|ENST00000418903|exon_6_42893250_42893898 0/1:99:180,0,202 . . . 6 42893415 rs61743125 G A NON_SYNONYMOUS_CODING PTCRA MODERATE|MISSENSE|Gcc/Acc|A174T|174|PTCRA|protein_coding|CODING|ENST00000446507|exon_6_42892999_42893573 0/1:99:180,0,202 . . . 6 42893415 rs61743125 G A NON_SYNONYMOUS_CODING PTCRA MODERATE|MISSENSE|Gcc/Acc|A256T|256|PTCRA|protein_coding|CODING|ENST00000441198|exon_6_42892999_42893573 0/1:99:180,0,202 . . . 6 42893415 rs61743125 G A NON_SYNONYMOUS_CODING PTCRA MODERATE|MISSENSE|Gcc/Acc|A281T|281|PTCRA|protein_coding|CODING|ENST00000304672|exon_6_42892999_42893573 0/1:99:180,0,202 . . . 6 42996940 rs148480237 A G NON_SYNONYMOUS_CODING RRP36 MODERATE|MISSENSE|Aga/Gga|R252G|259|RRP36|protein_coding|CODING|ENST00000244496|exon_6_42996830_42997335 . . . 0/1:91:88,0,255 6 43250680 . AGAGGAGGAGGAGGAGGA AGAGGAGGAGGAGGAGGAGGA CODON_CHANGE_PLUS_CODON_INSERTION TTBK1 MODERATE||gaa/gaGGAa|E740EE|1321|TTBK1|protein_coding|CODING|ENST00000259750|exon_6_43250465_43252050 . . . 0/1:99:173,0,255 6 43250710 rs3800295 G C NON_SYNONYMOUS_CODING TTBK1 MODERATE|MISSENSE|gaG/gaC|E744D|1321|TTBK1|protein_coding|CODING|ENST00000259750|exon_6_43250465_43252050 . . 0/1:99:101,0,221 . 6 43250725 . GGAAGAAGAAGA GGAAGAAGA CODON_CHANGE_PLUS_CODON_DELETION TTBK1 MODERATE||gaagag/gag|EE752E|1321|TTBK1|protein_coding|CODING|ENST00000259750|exon_6_43250465_43252050 . . 0/1:62:59,0,236 . 6 43400230 rs148391785 G A NON_SYNONYMOUS_CODING ABCC10 MODERATE|MISSENSE|cGc/cAc|R128H|1464|ABCC10|protein_coding|CODING|ENST00000244533|exon_6_43399489_43401098 . . . 0/1:99:164,0,243 6 43400230 rs148391785 G A NON_SYNONYMOUS_CODING ABCC10 MODERATE|MISSENSE|cGc/cAc|R171H|1492|ABCC10|protein_coding|CODING|ENST00000372530|exon_6_43399880_43401098 . . . 0/1:99:164,0,243 6 43473025 rs147994267 G A NON_SYNONYMOUS_CODING TJAP1 MODERATE|MISSENSE|cGg/cAg|R359Q|547|TJAP1|protein_coding|CODING|ENST00000259751|exon_6_43472499_43474291 . 0/1:99:151,0,178 . . 6 43473025 rs147994267 G A NON_SYNONYMOUS_CODING TJAP1 MODERATE|MISSENSE|cGg/cAg|R359Q|547|TJAP1|protein_coding|CODING|ENST00000372444|exon_6_43472499_43474294 . 0/1:99:151,0,178 . . 6 43473025 rs147994267 G A NON_SYNONYMOUS_CODING TJAP1 MODERATE|MISSENSE|cGg/cAg|R359Q|547|TJAP1|protein_coding|CODING|ENST00000372452|exon_6_43472499_43474291 . 0/1:99:151,0,178 . . 6 43473025 rs147994267 G A NON_SYNONYMOUS_CODING TJAP1 MODERATE|MISSENSE|cGg/cAg|R359Q|547|TJAP1|protein_coding|CODING|ENST00000372454|exon_6_43472499_43474291 . 0/1:99:151,0,178 . . 6 43473025 rs147994267 G A NON_SYNONYMOUS_CODING TJAP1 MODERATE|MISSENSE|cGg/cAg|R359Q|547|TJAP1|protein_coding|CODING|ENST00000436109|exon_6_43472499_43474294 . 0/1:99:151,0,178 . . 6 43473025 rs147994267 G A NON_SYNONYMOUS_CODING TJAP1 MODERATE|MISSENSE|cGg/cAg|R369Q|557|TJAP1|protein_coding|CODING|ENST00000372445|exon_6_43472499_43474294 . 0/1:99:151,0,178 . . 6 43473025 rs147994267 G A NON_SYNONYMOUS_CODING TJAP1 MODERATE|MISSENSE|cGg/cAg|R369Q|557|TJAP1|protein_coding|CODING|ENST00000372449|exon_6_43472499_43474291 . 0/1:99:151,0,178 . . 6 43473025 rs147994267 G A NON_SYNONYMOUS_CODING TJAP1 MODERATE|MISSENSE|cGg/cAg|R369Q|557|TJAP1|protein_coding|CODING|ENST00000438588|exon_6_43472499_43474294 . 0/1:99:151,0,178 . . 6 44151490 rs7761137 G A NON_SYNONYMOUS_CODING CAPN11 MODERATE|MISSENSE|aGc/aAc|S728N|739|CAPN11|protein_coding|CODING|ENST00000398776|exon_6_44151442_44151500 . 0/1:99:196,0,110 0/1:99:255,0,219 . 6 44151490 rs7761137 G A NON_SYNONYMOUS_CODING CAPN11 MODERATE|MISSENSE|aGc/aAc|S728N|739|CAPN11|protein_coding|CODING|ENST00000542245|exon_6_44151442_44151500 . 0/1:99:196,0,110 0/1:99:255,0,219 . 6 45290634 rs9472463 G A NON_SYNONYMOUS_CODING SUPT3H MODERATE|MISSENSE|aCg/aTg|T7M|328|SUPT3H|protein_coding|CODING|ENST00000371460|exon_6_45290616_45290704 . . 0/1:99:255,0,206 . 6 45290634 rs9472463 G A NON_SYNONYMOUS_CODING SUPT3H MODERATE|MISSENSE|aCg/aTg|T7M|328|SUPT3H|protein_coding|CODING|ENST00000371461|exon_6_45290616_45290653 . . 0/1:99:255,0,206 . 6 46521532 rs200815063 C T NON_SYNONYMOUS_CODING CYP39A1 MODERATE|MISSENSE|tGt/tAt|C437Y|469|CYP39A1|protein_coding|CODING|ENST00000275016|exon_6_46521504_46521591 . . . 0/1:99:255,0,255 6 46632594 rs35884480 T C NON_SYNONYMOUS_CODING SLC25A27 MODERATE|MISSENSE|aTa/aCa|I111T|237|SLC25A27|protein_coding|CODING|ENST00000452689|exon_6_46632511_46632623 . . . 0/1:99:251,0,255 6 46632594 rs35884480 T C NON_SYNONYMOUS_CODING SLC25A27 MODERATE|MISSENSE|aTa/aCa|I127T|148|SLC25A27|protein_coding|CODING|ENST00000425120|exon_6_46632511_46632623 . . . 0/1:99:251,0,255 6 46632594 rs35884480 T C NON_SYNONYMOUS_CODING SLC25A27 MODERATE|MISSENSE|aTa/aCa|I197T|245|SLC25A27|protein_coding|CODING|ENST00000411689|exon_6_46632511_46632623 . . . 0/1:99:251,0,255 6 46632594 rs35884480 T C NON_SYNONYMOUS_CODING SLC25A27 MODERATE|MISSENSE|aTa/aCa|I197T|323|SLC25A27|protein_coding|CODING|ENST00000371347|exon_6_46632511_46632623 . . . 0/1:99:251,0,255 6 46632594 rs35884480 T C NON_SYNONYMOUS_CODING SLC25A27 MODERATE|MISSENSE|aTa/aCa|I41T|158|SLC25A27|protein_coding|CODING|ENST00000355073|exon_6_46632511_46632623 . . . 0/1:99:251,0,255 6 46656464 rs200156736 T G NON_SYNONYMOUS_CODING TDRD6 MODERATE|MISSENSE|gTg/gGg|V200G|2066|TDRD6|protein_coding|CODING|ENST00000544460|exon_6_46655612_46661911 0/1:62:59,0,122 . . . 6 46656464 rs200156736 T G NON_SYNONYMOUS_CODING TDRD6 MODERATE|MISSENSE|gTg/gGg|V200G|2096|TDRD6|protein_coding|CODING|ENST00000316081|exon_6_46655866_46661911 0/1:62:59,0,122 . . . 6 46661488 rs41273662 A G NON_SYNONYMOUS_CODING TDRD6 MODERATE|MISSENSE|Aat/Gat|N1875D|2066|TDRD6|protein_coding|CODING|ENST00000544460|exon_6_46655612_46661911 . 0/1:99:255,0,255 . . 6 46661488 rs41273662 A G NON_SYNONYMOUS_CODING TDRD6 MODERATE|MISSENSE|Aat/Gat|N1875D|2096|TDRD6|protein_coding|CODING|ENST00000316081|exon_6_46655866_46661911 . 0/1:99:255,0,255 . . 6 46726500 rs9472839 C A NON_SYNONYMOUS_CODING RP11-268F1.2.1 MODERATE|MISSENSE|Cag/Aag|Q171K|222|RP11-268F1.2.1|protein_coding|CODING|ENST00000536046|exon_6_46726460_46726942 . . . 0/1:99:188,0,255 6 46726500 rs9472839 C A NON_SYNONYMOUS_CODING RP11-268F1.2.1 MODERATE|MISSENSE|Cag/Aag|Q200K|251|RP11-268F1.2.1|protein_coding|CODING|ENST00000565422|exon_6_46726460_46727243 . . . 0/1:99:188,0,255 6 46801219 rs62622418 G A NON_SYNONYMOUS_CODING MEP1A MODERATE|MISSENSE|cGg/cAg|R518Q|746|MEP1A|protein_coding|CODING|ENST00000230588|exon_6_46800811_46801275 0/1:99:255,0,166 . . . 6 46803018 rs2297020 A T NON_SYNONYMOUS_CODING MEP1A MODERATE|MISSENSE|Act/Tct|T606S|746|MEP1A|protein_coding|CODING|ENST00000230588|exon_6_46802986_46803286 0/1:99:255,0,145 . . 1/1:99:255,81,0 6 46803102 rs2297019 A G NON_SYNONYMOUS_CODING MEP1A MODERATE|MISSENSE|Atg/Gtg|M634V|746|MEP1A|protein_coding|CODING|ENST00000230588|exon_6_46802986_46803286 0/1:99:242,0,255 . . 1/1:99:255,114,0 6 48035985 rs199911038 C T NON_SYNONYMOUS_CODING C6orf138 MODERATE|MISSENSE|cGa/cAa|R119Q|294|C6orf138|protein_coding|CODING|ENST00000543600|exon_6_48035966_48036380 . 0/1:99:255,0,214 . . 6 48035985 rs199911038 C T NON_SYNONYMOUS_CODING C6orf138 MODERATE|MISSENSE|cGa/cAa|R136Q|846|C6orf138|protein_coding|CODING|ENST00000339488|exon_6_48035966_48036425 . 0/1:99:255,0,214 . . 6 49580247 rs16879498 C T NON_SYNONYMOUS_CODING RHAG MODERATE|MISSENSE|Gtt/Att|V270I|351|RHAG|protein_coding|CODING|ENST00000229810|exon_6_49580110_49580247 . . 0/1:99:255,0,237 . 6 49580247 rs16879498 C T NON_SYNONYMOUS_CODING RHAG MODERATE|MISSENSE|Gtt/Att|V270I|381|RHAG|protein_coding|CODING|ENST00000539403|exon_6_49580110_49580247 . . 0/1:99:255,0,237 . 6 49580247 rs16879498 C T NON_SYNONYMOUS_CODING RHAG MODERATE|MISSENSE|Gtt/Att|V270I|409|RHAG|protein_coding|CODING|ENST00000371175|exon_6_49580110_49580247 . . 0/1:99:255,0,237 . 6 49580247 rs16879498 C T NON_SYNONYMOUS_CODING RHAG MODERATE|MISSENSE|Gtt/Att|V270I|410|RHAG|protein_coding|CODING|ENST00000418071|exon_6_49580110_49580247 . . 0/1:99:255,0,237 . 6 51484226 rs34548196 C T NON_SYNONYMOUS_CODING PKHD1 MODERATE|MISSENSE|Gtc/Atc|V3960I|4074|PKHD1|protein_coding|CODING|ENST00000371117|exon_6_51480098_51484318 . . . 0/1:99:225,0,255 6 51491866 rs2661488 A T NON_SYNONYMOUS_CODING PKHD1 MODERATE|MISSENSE|aTt/aAt|I3905N|4074|PKHD1|protein_coding|CODING|ENST00000371117|exon_6_51491795_51491914 . . . 0/1:99:220,0,255 6 51497503 rs76572975 C A NON_SYNONYMOUS_CODING PKHD1 MODERATE|MISSENSE|cGa/cTa|R3842L|4074|PKHD1|protein_coding|CODING|ENST00000371117|exon_6_51497363_51497521 . 0/1:99:255,0,196 . . 6 52288786 . G A NON_SYNONYMOUS_CODING EFHC1 MODERATE|MISSENSE|Ggc/Agc|G17S|621|EFHC1|protein_coding|CODING|ENST00000538167|exon_6_52288744_52288965 . . . 0/1:99:255,0,255 6 52288786 . G A NON_SYNONYMOUS_CODING EFHC1 MODERATE|MISSENSE|Ggc/Agc|G36S|640|EFHC1|protein_coding|CODING|ENST00000371068|exon_6_52288744_52288965 . . . 0/1:99:255,0,255 6 53762092 rs9349688 A G NON_SYNONYMOUS_CODING LRRC1 MODERATE|MISSENSE|Att/Gtt|I193V|524|LRRC1|protein_coding|CODING|ENST00000370888|exon_6_53762083_53762157 . . . 0/1:99:255,0,255 6 54095600 . A T NON_SYNONYMOUS_CODING MLIP MODERATE|MISSENSE|cAg/cTg|Q401L|458|MLIP|protein_coding|CODING|ENST00000274897|exon_6_54095512_54095715 . . 0/1:99:216,0,255 . 6 54095600 . A T NON_SYNONYMOUS_CODING MLIP MODERATE|MISSENSE|cAg/cTg|Q936L|993|MLIP|protein_coding|CODING|ENST00000502396|exon_6_54095512_54095715 . . 0/1:99:216,0,255 . 6 54191686 rs41276062 C T NON_SYNONYMOUS_CODING TINAG MODERATE|MISSENSE|cCc/cTc|P149L|335|TINAG|protein_coding|CODING|ENST00000339741|exon_6_54191596_54191714 . 0/1:99:255,0,180 . . 6 54191686 rs41276062 C T NON_SYNONYMOUS_CODING TINAG MODERATE|MISSENSE|cCc/cTc|P181L|203|TINAG|protein_coding|CODING|ENST00000370864|exon_6_54191600_54191804 . 0/1:99:255,0,180 . . 6 54191686 rs41276062 C T NON_SYNONYMOUS_CODING TINAG MODERATE|MISSENSE|cCc/cTc|P195L|205|TINAG|protein_coding|CODING|ENST00000370869|exon_6_54191600_54191714 . 0/1:99:255,0,180 . . 6 54191686 rs41276062 C T NON_SYNONYMOUS_CODING TINAG MODERATE|MISSENSE|cCc/cTc|P199L|476|TINAG|protein_coding|CODING|ENST00000259782|exon_6_54191600_54191714 . 0/1:99:255,0,180 . . 6 54212215 . A C NON_SYNONYMOUS_CODING TINAG MODERATE|MISSENSE|Aat/Cat|N267H|476|TINAG|protein_coding|CODING|ENST00000259782|exon_6_54212165_54212315 0/1:99:255,0,255 . . . 6 54254589 rs3736352 A C NON_SYNONYMOUS_CODING TINAG MODERATE|MISSENSE|Att/Ctt|I112L|155|TINAG|protein_coding|CODING|ENST00000370865|exon_6_54254589_54254766 . . . 0/1:99:255,0,235 6 54254589 rs3736352 A C NON_SYNONYMOUS_CODING TINAG MODERATE|MISSENSE|Att/Ctt|I292L|335|TINAG|protein_coding|CODING|ENST00000339741|exon_6_54254589_54254950 . . . 0/1:99:255,0,235 6 54254589 rs3736352 A C NON_SYNONYMOUS_CODING TINAG MODERATE|MISSENSE|Att/Ctt|I433L|476|TINAG|protein_coding|CODING|ENST00000259782|exon_6_54254589_54254950 . . . 0/1:99:255,0,235 6 55924962 rs12209452 A G NON_SYNONYMOUS_CODING COL21A1 MODERATE|MISSENSE|cTg/cCg|L818P|954|COL21A1|protein_coding|CODING|ENST00000370811|exon_6_55924816_55925016 0/1:99:240,0,255 . . 0/1:99:205,0,245 6 55924962 rs12209452 A G NON_SYNONYMOUS_CODING COL21A1 MODERATE|MISSENSE|cTg/cCg|L818P|954|COL21A1|protein_coding|CODING|ENST00000370819|exon_6_55924816_55925016 0/1:99:240,0,255 . . 0/1:99:205,0,245 6 55924962 rs12209452 A G NON_SYNONYMOUS_CODING COL21A1 MODERATE|MISSENSE|cTg/cCg|L821P|957|COL21A1|protein_coding|CODING|ENST00000244728|exon_6_55924816_55925016 0/1:99:240,0,255 . . 0/1:99:205,0,245 6 55924962 rs12209452 A G NON_SYNONYMOUS_CODING COL21A1 MODERATE|MISSENSE|cTg/cCg|L821P|957|COL21A1|protein_coding|CODING|ENST00000535941|exon_6_55924816_55925016 0/1:99:240,0,255 . . 0/1:99:205,0,245 6 56033094 rs35471617 G A NON_SYNONYMOUS_CODING COL21A1 MODERATE|MISSENSE|aCg/aTg|T343M|954|COL21A1|protein_coding|CODING|ENST00000370811|exon_6_56032922_56033095 . 0/1:99:255,0,255 . . 6 56033094 rs35471617 G A NON_SYNONYMOUS_CODING COL21A1 MODERATE|MISSENSE|aCg/aTg|T343M|954|COL21A1|protein_coding|CODING|ENST00000370819|exon_6_56032922_56033095 . 0/1:99:255,0,255 . . 6 56033094 rs35471617 G A NON_SYNONYMOUS_CODING COL21A1 MODERATE|MISSENSE|aCg/aTg|T343M|957|COL21A1|protein_coding|CODING|ENST00000244728|exon_6_56032922_56033095 . 0/1:99:255,0,255 . . 6 56033094 rs35471617 G A NON_SYNONYMOUS_CODING COL21A1 MODERATE|MISSENSE|aCg/aTg|T343M|957|COL21A1|protein_coding|CODING|ENST00000535941|exon_6_56032922_56033095 . 0/1:99:255,0,255 . . 6 56035539 . T G NON_SYNONYMOUS_CODING COL21A1 MODERATE|MISSENSE|Acc/Ccc|T312P|954|COL21A1|protein_coding|CODING|ENST00000370811|exon_6_56035447_56035663 . 0/1:99:255,0,255 . . 6 56035539 . T G NON_SYNONYMOUS_CODING COL21A1 MODERATE|MISSENSE|Acc/Ccc|T312P|954|COL21A1|protein_coding|CODING|ENST00000370819|exon_6_56035447_56035663 . 0/1:99:255,0,255 . . 6 56035539 . T G NON_SYNONYMOUS_CODING COL21A1 MODERATE|MISSENSE|Acc/Ccc|T312P|957|COL21A1|protein_coding|CODING|ENST00000244728|exon_6_56035447_56035663 . 0/1:99:255,0,255 . . 6 56035539 . T G NON_SYNONYMOUS_CODING COL21A1 MODERATE|MISSENSE|Acc/Ccc|T312P|957|COL21A1|protein_coding|CODING|ENST00000535941|exon_6_56035447_56035663 . 0/1:99:255,0,255 . . 6 56420158 rs62621210 C T NON_SYNONYMOUS_CODING DST MODERATE|MISSENSE|Gtt/Att|V2418I|5171|DST|protein_coding|CODING|ENST00000244364|exon_6_56420143_56420638 . 0/1:99:255,0,236 . 0/1:99:239,0,255 6 56420158 rs62621210 C T NON_SYNONYMOUS_CODING DST MODERATE|MISSENSE|Gtt/Att|V2744I|5375|DST|protein_coding|CODING|ENST00000370788|exon_6_56420143_56420638 . 0/1:99:255,0,236 . 0/1:99:239,0,255 6 56420158 rs62621210 C T NON_SYNONYMOUS_CODING DST MODERATE|MISSENSE|Gtt/Att|V2744I|5457|DST|protein_coding|CODING|ENST00000421834|exon_6_56420143_56420638 . 0/1:99:255,0,236 . 0/1:99:239,0,255 6 56420158 rs62621210 C T NON_SYNONYMOUS_CODING DST MODERATE|MISSENSE|Gtt/Att|V4506I|7246|DST|protein_coding|CODING|ENST00000446842|exon_6_56420143_56420638 . 0/1:99:255,0,236 . 0/1:99:239,0,255 6 56420158 rs62621210 C T NON_SYNONYMOUS_CODING DST MODERATE|MISSENSE|Gtt/Att|V4830I|7461|DST|protein_coding|CODING|ENST00000361203|exon_6_56420143_56420638 . 0/1:99:255,0,236 . 0/1:99:239,0,255 6 56420158 rs62621210 C T NON_SYNONYMOUS_CODING DST MODERATE|MISSENSE|Gtt/Att|V4832I|7572|DST|protein_coding|CODING|ENST00000370769|exon_6_56420143_56420638 . 0/1:99:255,0,236 . 0/1:99:239,0,255 6 56420158 rs62621210 C T NON_SYNONYMOUS_CODING DST MODERATE|MISSENSE|Gtt/Att|V5010I|7750|DST|protein_coding|CODING|ENST00000370754|exon_6_56420143_56420638 . 0/1:99:255,0,236 . 0/1:99:239,0,255 6 56471615 rs45442999 G A NON_SYNONYMOUS_CODING DST MODERATE|MISSENSE|aCa/aTa|T2067I|3059|DST|protein_coding|CODING|ENST00000439203|exon_6_56468635_56474142 . . . 0/1:99:255,0,255 6 56471615 rs45442999 G A NON_SYNONYMOUS_CODING DST MODERATE|MISSENSE|aCa/aTa|T2067I|7246|DST|protein_coding|CODING|ENST00000446842|exon_6_56468635_56474142 . . . 0/1:99:255,0,255 6 56471615 rs45442999 G A NON_SYNONYMOUS_CODING DST MODERATE|MISSENSE|aCa/aTa|T2393I|4200|DST|protein_coding|CODING|ENST00000312431|exon_6_56468635_56474142 . . . 0/1:99:255,0,255 6 56471615 rs45442999 G A NON_SYNONYMOUS_CODING DST MODERATE|MISSENSE|aCa/aTa|T2393I|7461|DST|protein_coding|CODING|ENST00000361203|exon_6_56468635_56474142 . . . 0/1:99:255,0,255 6 56471615 rs45442999 G A NON_SYNONYMOUS_CODING DST MODERATE|MISSENSE|aCa/aTa|T2393I|7572|DST|protein_coding|CODING|ENST00000370769|exon_6_56468635_56474142 . . . 0/1:99:255,0,255 6 56471615 rs45442999 G A NON_SYNONYMOUS_CODING DST MODERATE|MISSENSE|aCa/aTa|T2571I|7750|DST|protein_coding|CODING|ENST00000370754|exon_6_56468635_56474142 . . . 0/1:99:255,0,255 6 56480500 rs150191284 T C NON_SYNONYMOUS_CODING DST MODERATE|MISSENSE|Att/Gtt|I2589V|2649|DST|protein_coding|CODING|ENST00000370765|exon_6_56479374_56482216 . . . 0/1:99:255,0,255 6 56507489 rs1024196 A G NON_SYNONYMOUS_CODING DST MODERATE|MISSENSE|tTg/tCg|L33S|1143|DST|protein_coding|CODING|ENST00000518935|exon_6_56507420_56507658 . . . 0/1:99:255,0,243 6 56507489 rs1024196 A G NON_SYNONYMOUS_CODING DST MODERATE|MISSENSE|tTg/tCg|L33S|2649|DST|protein_coding|CODING|ENST00000370765|exon_6_56507420_56507694 . . . 0/1:99:255,0,243 6 56507489 rs1024196 A G NON_SYNONYMOUS_CODING DST MODERATE|MISSENSE|tTg/tCg|L33S|3059|DST|protein_coding|CODING|ENST00000439203|exon_6_56507420_56507586 . . . 0/1:99:255,0,243 6 56507489 rs1024196 A G NON_SYNONYMOUS_CODING DST MODERATE|MISSENSE|tTg/tCg|L33S|5171|DST|protein_coding|CODING|ENST00000244364|exon_6_56507420_56507794 . . . 0/1:99:255,0,243 6 56507489 rs1024196 A G NON_SYNONYMOUS_CODING DST MODERATE|MISSENSE|tTg/tCg|L33S|7246|DST|protein_coding|CODING|ENST00000446842|exon_6_56507420_56507694 . . . 0/1:99:255,0,243 6 56716308 . G A NON_SYNONYMOUS_CODING DST MODERATE|MISSENSE|cCa/cTa|P171L|688|DST|protein_coding|CODING|ENST00000449297|exon_6_56716195_56716402 . 0/1:99:240,0,255 . . 6 56716308 . G A NON_SYNONYMOUS_CODING DST MODERATE|MISSENSE|cCa/cTa|P171L|7750|DST|protein_coding|CODING|ENST00000370754|exon_6_56716195_56716402 . 0/1:99:240,0,255 . . 6 56716308 . G A NON_SYNONYMOUS_CODING DST MODERATE|MISSENSE|cCa/cTa|P33L|1478|DST|protein_coding|CODING|ENST00000520645|exon_6_56716195_56716402 . 0/1:99:240,0,255 . . 6 57037506 . C T NON_SYNONYMOUS_CODING BAG2 MODERATE|MISSENSE|gCg/gTg|A4V|211|BAG2|protein_coding|CODING|ENST00000370693|exon_6_57037124_57037608 . . . 0/1:99:249,0,196 6 64394066 rs41271581 A G NON_SYNONYMOUS_CODING PHF3 MODERATE|MISSENSE|aAg/aGg|K101R|820|PHF3|protein_coding|CODING|ENST00000494284|exon_6_64394030_64395812 . 0/1:99:255,0,255 . . 6 64394066 rs41271581 A G NON_SYNONYMOUS_CODING PHF3 MODERATE|MISSENSE|aAg/aGg|K148R|2039|PHF3|protein_coding|CODING|ENST00000262043|exon_6_64394030_64395812 . 0/1:99:255,0,255 . . 6 64394066 rs41271581 A G NON_SYNONYMOUS_CODING PHF3 MODERATE|MISSENSE|aAg/aGg|K148R|2039|PHF3|protein_coding|CODING|ENST00000393387|exon_6_64394030_64395812 . 0/1:99:255,0,255 . . 6 64394066 rs41271581 A G NON_SYNONYMOUS_CODING PHF3 MODERATE|MISSENSE|aAg/aGg|K148R|736|PHF3|protein_coding|CODING|ENST00000509330|exon_6_64394030_64396225 . 0/1:99:255,0,255 . . 6 64394066 rs41271581 A G NON_SYNONYMOUS_CODING PHF3 MODERATE|MISSENSE|aAg/aGg|K60R|812|PHF3|protein_coding|CODING|ENST00000481385|exon_6_64394030_64395812 . 0/1:99:255,0,255 . . 6 64394066 rs41271581 A G NON_SYNONYMOUS_CODING PHF3 MODERATE|MISSENSE|aAg/aGg|K78R|103|PHF3|protein_coding|CODING|ENST00000514822|exon_6_64394030_64394146 . 0/1:99:255,0,255 . . 6 64415996 . G C NON_SYNONYMOUS_CODING PHF3 MODERATE|MISSENSE|Gac/Cac|D1149H|2039|PHF3|protein_coding|CODING|ENST00000262043|exon_6_64415919_64416114 . . . 0/1:99:255,0,255 6 64415996 . G C NON_SYNONYMOUS_CODING PHF3 MODERATE|MISSENSE|Gac/Cac|D1149H|2039|PHF3|protein_coding|CODING|ENST00000393387|exon_6_64415919_64416114 . . . 0/1:99:255,0,255 6 64415996 . G C NON_SYNONYMOUS_CODING PHF3 MODERATE|MISSENSE|Gac/Cac|D418H|859|PHF3|protein_coding|CODING|ENST00000515594|exon_6_64415919_64416114 . . . 0/1:99:255,0,255 6 64415996 . G C NON_SYNONYMOUS_CODING PHF3 MODERATE|MISSENSE|Gac/Cac|D963H|1071|PHF3|protein_coding|CODING|ENST00000506783|exon_6_64415919_64416114 . . . 0/1:99:255,0,255 6 64488046 . G C NON_SYNONYMOUS_CODING EYS MODERATE|MISSENSE|aCt/aGt|T2584S|3144|EYS|protein_coding|CODING|ENST00000503581|exon_6_64487899_64488073 . 0/1:99:234,0,255 . . 6 64488046 . G C NON_SYNONYMOUS_CODING EYS MODERATE|MISSENSE|aCt/aGt|T2584S|3165|EYS|protein_coding|CODING|ENST00000370616|exon_6_64487899_64488073 . 0/1:99:234,0,255 . . 6 64488046 . G C NON_SYNONYMOUS_CODING EYS MODERATE|MISSENSE|aCt/aGt|T2584S|3165|EYS|protein_coding|CODING|ENST00000370621|exon_6_64487899_64488073 . 0/1:99:234,0,255 . . 6 65300250 rs199689193 C G NON_SYNONYMOUS_CODING EYS MODERATE|MISSENSE|tGg/tCg|W1837S|3144|EYS|protein_coding|CODING|ENST00000503581|exon_6_65300116_65301882 . 0/1:99:255,0,255 . . 6 65300250 rs199689193 C G NON_SYNONYMOUS_CODING EYS MODERATE|MISSENSE|tGg/tCg|W1837S|3165|EYS|protein_coding|CODING|ENST00000370616|exon_6_65300116_65301882 . 0/1:99:255,0,255 . . 6 65300250 rs199689193 C G NON_SYNONYMOUS_CODING EYS MODERATE|MISSENSE|tGg/tCg|W1837S|3165|EYS|protein_coding|CODING|ENST00000370621|exon_6_65300116_65301882 . 0/1:99:255,0,255 . . 6 70851789 rs13204209 A G NON_SYNONYMOUS_CODING COL19A1 MODERATE|MISSENSE|gAa/gGa|E118G|764|COL19A1|protein_coding|CODING|ENST00000393344|exon_6_70851785_70851820 . 0/1:99:255,0,255 . . 6 70851789 rs13204209 A G NON_SYNONYMOUS_CODING COL19A1 MODERATE|MISSENSE|gAa/gGa|E496G|1142|COL19A1|protein_coding|CODING|ENST00000322773|exon_6_70851785_70851820 . 0/1:99:255,0,255 . . 6 71569066 . CCATCA CCATCATCA CODON_CHANGE_PLUS_CODON_INSERTION SMAP1 MODERATE||agt/aTCAgt|S410IS|436|SMAP1|protein_coding|CODING|ENST00000370452|exon_6_71569032_71569119 . . 0/1:99:255,0,255 . 6 73752850 rs116846875 G A NON_SYNONYMOUS_CODING KCNQ5 MODERATE|MISSENSE|Ggg/Agg|G63R|90|KCNQ5|protein_coding|CODING|ENST00000441538|exon_6_73752791_73752984 0/1:99:255,0,224 . . . 6 74079464 rs2280286 C T NON_SYNONYMOUS_CODING OOEP MODERATE|MISSENSE|Gcc/Acc|A18T|149|OOEP|protein_coding|CODING|ENST00000370359|exon_6_74079326_74079515 0/1:99:229,0,179 . . . 6 74161604 rs141133909 C T NON_SYNONYMOUS_CODING MB21D1 MODERATE|MISSENSE|Ggg/Agg|G101R|447|MB21D1|protein_coding|CODING|ENST00000370318|exon_6_74161248_74161982 0/1:99:220,0,247 . . . 6 74161604 rs141133909 C T NON_SYNONYMOUS_CODING MB21D1 MODERATE|MISSENSE|Ggg/Agg|G101R|505|MB21D1|protein_coding|CODING|ENST00000296913|exon_6_74161248_74161999 0/1:99:220,0,247 . . . 6 74161604 rs141133909 C T NON_SYNONYMOUS_CODING MB21D1 MODERATE|MISSENSE|Ggg/Agg|G101R|522|MB21D1|protein_coding|CODING|ENST00000370315|exon_6_74161248_74161999 0/1:99:220,0,247 . . . 6 74331619 rs16883930 C T NON_SYNONYMOUS_CODING SLC17A5 MODERATE|MISSENSE|Gtt/Att|V296I|495|SLC17A5|protein_coding|CODING|ENST00000355773|exon_6_74331527_74331685 0/1:99:197,0,255 . . . 6 74516631 rs35630075 G A NON_SYNONYMOUS_CODING CD109 MODERATE|MISSENSE|Gtg/Atg|V1009M|1428|CD109|protein_coding|CODING|ENST00000437994|exon_6_74516567_74516795 . . 0/1:99:255,0,255 . 6 74516631 rs35630075 G A NON_SYNONYMOUS_CODING CD109 MODERATE|MISSENSE|Gtg/Atg|V1009M|1445|CD109|protein_coding|CODING|ENST00000287097|exon_6_74516567_74516795 . . 0/1:99:255,0,255 . 6 74516631 rs35630075 G A NON_SYNONYMOUS_CODING CD109 MODERATE|MISSENSE|Gtg/Atg|V932M|1368|CD109|protein_coding|CODING|ENST00000422508|exon_6_74516567_74516795 . . 0/1:99:255,0,255 . 6 75814950 rs34369939 A G NON_SYNONYMOUS_CODING COL12A1 MODERATE|MISSENSE|gTt/gCt|V1582A|1899|COL12A1|protein_coding|CODING|ENST00000345356|exon_6_75814922_75815008 . 0/1:99:255,0,230 . . 6 75814950 rs34369939 A G NON_SYNONYMOUS_CODING COL12A1 MODERATE|MISSENSE|gTt/gCt|V2670A|2987|COL12A1|protein_coding|CODING|ENST00000416123|exon_6_75814922_75815008 . 0/1:99:255,0,230 . . 6 75814950 rs34369939 A G NON_SYNONYMOUS_CODING COL12A1 MODERATE|MISSENSE|gTt/gCt|V2670A|2987|COL12A1|protein_coding|CODING|ENST00000432784|exon_6_75814922_75815008 . 0/1:99:255,0,230 . . 6 75814950 rs34369939 A G NON_SYNONYMOUS_CODING COL12A1 MODERATE|MISSENSE|gTt/gCt|V2746A|3062|COL12A1|protein_coding|CODING|ENST00000483888|exon_6_75814922_75815008 . 0/1:99:255,0,230 . . 6 75814950 rs34369939 A G NON_SYNONYMOUS_CODING COL12A1 MODERATE|MISSENSE|gTt/gCt|V2746A|3063|COL12A1|protein_coding|CODING|ENST00000322507|exon_6_75814922_75815008 . 0/1:99:255,0,230 . . 6 75814950 rs34369939 A G NON_SYNONYMOUS_CODING COL12A1 MODERATE|MISSENSE|gTt/gCt|V384A|756|COL12A1|protein_coding|CODING|ENST00000425443|exon_6_75814922_75815008 . 0/1:99:255,0,230 . . 6 76633385 rs3778005 C T NON_SYNONYMOUS_CODING IMPG1 MODERATE|MISSENSE|aGt/aAt|S122N|158|IMPG1|protein_coding|CODING|ENST00000369952|exon_6_76633351_76633423 . . 0/1:99:227,0,255 . 6 76633385 rs3778005 C T NON_SYNONYMOUS_CODING IMPG1 MODERATE|MISSENSE|aGt/aAt|S761N|797|IMPG1|protein_coding|CODING|ENST00000369950|exon_6_76633351_76633423 . . 0/1:99:227,0,255 . 6 79577412 rs41269339 C G NON_SYNONYMOUS_CODING IRAK1BP1 MODERATE|MISSENSE|cCc/cGc|P40R|260|IRAK1BP1|protein_coding|CODING|ENST00000369940|exon_6_79577189_79577608 . . . 0/1:99:198,0,114 6 80717676 rs2230513 C T NON_SYNONYMOUS_CODING TTK MODERATE|MISSENSE|gCg/gTg|A97V|138|TTK|protein_coding|CODING|ENST00000502580|exon_6_80717526_80717748 . 0/1:99:255,0,248 . . 6 80717676 rs2230513 C T NON_SYNONYMOUS_CODING TTK MODERATE|MISSENSE|gCg/gTg|A97V|149|TTK|protein_coding|CODING|ENST00000511260|exon_6_80717526_80717748 . 0/1:99:255,0,248 . . 6 80717676 rs2230513 C T NON_SYNONYMOUS_CODING TTK MODERATE|MISSENSE|gCg/gTg|A97V|174|TTK|protein_coding|CODING|ENST00000504040|exon_6_80717526_80717748 . 0/1:99:255,0,248 . . 6 80717676 rs2230513 C T NON_SYNONYMOUS_CODING TTK MODERATE|MISSENSE|gCg/gTg|A97V|856|TTK|protein_coding|CODING|ENST00000230510|exon_6_80717526_80717748 . 0/1:99:255,0,248 . . 6 80717676 rs2230513 C T NON_SYNONYMOUS_CODING TTK MODERATE|MISSENSE|gCg/gTg|A97V|856|TTK|protein_coding|CODING|ENST00000509894|exon_6_80717526_80717748 . 0/1:99:255,0,248 . . 6 80717676 rs2230513 C T NON_SYNONYMOUS_CODING TTK MODERATE|MISSENSE|gCg/gTg|A97V|857|TTK|protein_coding|CODING|ENST00000369798|exon_6_80717526_80717748 . 0/1:99:255,0,248 . . 6 83850049 rs9444039 A T NON_SYNONYMOUS_CODING DOPEY1 MODERATE|MISSENSE|cAa/cTa|Q1762L|2369|DOPEY1|protein_coding|CODING|ENST00000237163|exon_6_83849940_83850122 0/1:99:255,0,203 . . . 6 83850049 rs9444039 A T NON_SYNONYMOUS_CODING DOPEY1 MODERATE|MISSENSE|cAa/cTa|Q1762L|2369|DOPEY1|protein_coding|CODING|ENST00000369739|exon_6_83849940_83850122 0/1:99:255,0,203 . . . 6 83850049 rs9444039 A T NON_SYNONYMOUS_CODING DOPEY1 MODERATE|MISSENSE|cAa/cTa|Q1781L|2465|DOPEY1|protein_coding|CODING|ENST00000349129|exon_6_83849940_83850122 0/1:99:255,0,203 . . . 6 83900923 rs73749738 A T NON_SYNONYMOUS_CODING PGM3 MODERATE|MISSENSE|gTt/gAt|V22D|113|PGM3|protein_coding|CODING|ENST00000503094|exon_6_83900906_83901042 0/1:99:255,0,255 . . . 6 83900923 rs73749738 A T NON_SYNONYMOUS_CODING PGM3 MODERATE|MISSENSE|gTt/gAt|V22D|155|PGM3|protein_coding|CODING|ENST00000508748|exon_6_83900906_83901042 0/1:99:255,0,255 . . . 6 83900923 rs73749738 A T NON_SYNONYMOUS_CODING PGM3 MODERATE|MISSENSE|gTt/gAt|V22D|570|PGM3|protein_coding|CODING|ENST00000506587|exon_6_83900906_83901042 0/1:99:255,0,255 . . . 6 84300969 rs199865724 C A NON_SYNONYMOUS_CODING SNAP91 MODERATE|MISSENSE|Gct/Tct|A472S|580|SNAP91|protein_coding|CODING|ENST00000521931|exon_6_84300930_84301013 . . 0/1:99:252,0,255 . 6 84300969 rs199865724 C A NON_SYNONYMOUS_CODING SNAP91 MODERATE|MISSENSE|Gct/Tct|A629S|877|SNAP91|protein_coding|CODING|ENST00000520302|exon_6_84300930_84301013 . . 0/1:99:252,0,255 . 6 84300969 rs199865724 C A NON_SYNONYMOUS_CODING SNAP91 MODERATE|MISSENSE|Gct/Tct|A659S|902|SNAP91|protein_coding|CODING|ENST00000195649|exon_6_84300930_84301013 . . 0/1:99:252,0,255 . 6 84300969 rs199865724 C A NON_SYNONYMOUS_CODING SNAP91 MODERATE|MISSENSE|Gct/Tct|A659S|902|SNAP91|protein_coding|CODING|ENST00000521485|exon_6_84300930_84301013 . . 0/1:99:252,0,255 . 6 84300969 rs199865724 C A NON_SYNONYMOUS_CODING SNAP91 MODERATE|MISSENSE|Gct/Tct|A659S|907|SNAP91|protein_coding|CODING|ENST00000369694|exon_6_84300930_84301013 . . 0/1:99:252,0,255 . 6 84300969 rs199865724 C A NON_SYNONYMOUS_CODING SNAP91 MODERATE|MISSENSE|Gct/Tct|A659S|907|SNAP91|protein_coding|CODING|ENST00000428679|exon_6_84300930_84301013 . . 0/1:99:252,0,255 . 6 84300969 rs199865724 C A NON_SYNONYMOUS_CODING SNAP91 MODERATE|MISSENSE|Gct/Tct|A659S|907|SNAP91|protein_coding|CODING|ENST00000439399|exon_6_84300930_84301013 . . 0/1:99:252,0,255 . 6 84300969 rs199865724 C A NON_SYNONYMOUS_CODING SNAP91 MODERATE|MISSENSE|Gct/Tct|A659S|907|SNAP91|protein_coding|CODING|ENST00000521743|exon_6_84300930_84301013 . . 0/1:99:252,0,255 . 6 84303230 rs41271579 T C NON_SYNONYMOUS_CODING SNAP91 MODERATE|MISSENSE|Acc/Gcc|T553A|877|SNAP91|protein_coding|CODING|ENST00000520302|exon_6_84303197_84303460 . 0/1:99:243,0,243 . . 6 84303230 rs41271579 T C NON_SYNONYMOUS_CODING SNAP91 MODERATE|MISSENSE|Acc/Gcc|T555A|902|SNAP91|protein_coding|CODING|ENST00000195649|exon_6_84303197_84303460 . 0/1:99:243,0,243 . . 6 84303230 rs41271579 T C NON_SYNONYMOUS_CODING SNAP91 MODERATE|MISSENSE|Acc/Gcc|T555A|902|SNAP91|protein_coding|CODING|ENST00000521485|exon_6_84303197_84303460 . 0/1:99:243,0,243 . . 6 84303230 rs41271579 T C NON_SYNONYMOUS_CODING SNAP91 MODERATE|MISSENSE|Acc/Gcc|T555A|907|SNAP91|protein_coding|CODING|ENST00000369694|exon_6_84303197_84303460 . 0/1:99:243,0,243 . . 6 84303230 rs41271579 T C NON_SYNONYMOUS_CODING SNAP91 MODERATE|MISSENSE|Acc/Gcc|T555A|907|SNAP91|protein_coding|CODING|ENST00000428679|exon_6_84303197_84303460 . 0/1:99:243,0,243 . . 6 84303230 rs41271579 T C NON_SYNONYMOUS_CODING SNAP91 MODERATE|MISSENSE|Acc/Gcc|T555A|907|SNAP91|protein_coding|CODING|ENST00000439399|exon_6_84303197_84303460 . 0/1:99:243,0,243 . . 6 84303230 rs41271579 T C NON_SYNONYMOUS_CODING SNAP91 MODERATE|MISSENSE|Acc/Gcc|T555A|907|SNAP91|protein_coding|CODING|ENST00000521743|exon_6_84303197_84303460 . 0/1:99:243,0,243 . . 6 84904604 rs17790493 G C NON_SYNONYMOUS_CODING KIAA1009 MODERATE|MISSENSE|tCt/tGt|S266C|1327|KIAA1009|protein_coding|CODING|ENST00000257766|exon_6_84904602_84904793 . 0/1:99:255,0,255 . . 6 84904604 rs17790493 G C NON_SYNONYMOUS_CODING KIAA1009 MODERATE|MISSENSE|tCt/tGt|S342C|1403|KIAA1009|protein_coding|CODING|ENST00000403245|exon_6_84904602_84904793 . 0/1:99:255,0,255 . . 6 86243506 . T C NON_SYNONYMOUS_CODING SNX14 MODERATE|MISSENSE|Att/Gtt|I459V|832|SNX14|protein_coding|CODING|ENST00000515216|exon_6_86243317_86243518 0/1:99:219,0,255 . . . 6 86243506 . T C NON_SYNONYMOUS_CODING SNX14 MODERATE|MISSENSE|Att/Gtt|I488V|893|SNX14|protein_coding|CODING|ENST00000346348|exon_6_86243317_86243518 0/1:99:219,0,255 . . . 6 86243506 . T C NON_SYNONYMOUS_CODING SNX14 MODERATE|MISSENSE|Att/Gtt|I489V|894|SNX14|protein_coding|CODING|ENST00000505648|exon_6_86243317_86243518 0/1:99:219,0,255 . . . 6 86243506 . T C NON_SYNONYMOUS_CODING SNX14 MODERATE|MISSENSE|Att/Gtt|I532V|937|SNX14|protein_coding|CODING|ENST00000369627|exon_6_86243317_86243518 0/1:99:219,0,255 . . . 6 86243506 . T C NON_SYNONYMOUS_CODING SNX14 MODERATE|MISSENSE|Att/Gtt|I541V|946|SNX14|protein_coding|CODING|ENST00000314673|exon_6_86243317_86243518 0/1:99:219,0,255 . . . 6 86257229 rs41271629 T G NON_SYNONYMOUS_CODING SNX14 MODERATE|MISSENSE|Agt/Cgt|S230R|832|SNX14|protein_coding|CODING|ENST00000515216|exon_6_86257224_86257268 . 0/1:99:255,0,255 . . 6 86257229 rs41271629 T G NON_SYNONYMOUS_CODING SNX14 MODERATE|MISSENSE|Agt/Cgt|S251R|894|SNX14|protein_coding|CODING|ENST00000505648|exon_6_86257224_86257268 . 0/1:99:255,0,255 . . 6 86257229 rs41271629 T G NON_SYNONYMOUS_CODING SNX14 MODERATE|MISSENSE|Agt/Cgt|S259R|893|SNX14|protein_coding|CODING|ENST00000346348|exon_6_86257224_86257268 . 0/1:99:255,0,255 . . 6 86257229 rs41271629 T G NON_SYNONYMOUS_CODING SNX14 MODERATE|MISSENSE|Agt/Cgt|S303R|665|SNX14|protein_coding|CODING|ENST00000513865|exon_6_86257224_86257268 . 0/1:99:255,0,255 . . 6 86257229 rs41271629 T G NON_SYNONYMOUS_CODING SNX14 MODERATE|MISSENSE|Agt/Cgt|S303R|937|SNX14|protein_coding|CODING|ENST00000369627|exon_6_86257224_86257268 . 0/1:99:255,0,255 . . 6 86257229 rs41271629 T G NON_SYNONYMOUS_CODING SNX14 MODERATE|MISSENSE|Agt/Cgt|S303R|946|SNX14|protein_coding|CODING|ENST00000314673|exon_6_86257224_86257268 . 0/1:99:255,0,255 . . 6 87970650 rs61744959 G A NON_SYNONYMOUS_CODING ZNF292 MODERATE|MISSENSE|Gta/Ata|V2430I|2718|ZNF292|protein_coding|CODING|ENST00000339907|exon_6_87964368_87971638 0/1:99:255,0,255 . . . 6 87970650 rs61744959 G A NON_SYNONYMOUS_CODING ZNF292 MODERATE|MISSENSE|Gta/Ata|V2435I|2723|ZNF292|protein_coding|CODING|ENST00000369577|exon_6_87964368_87973914 0/1:99:255,0,255 . . . 6 88140811 rs117649467 C A NON_SYNONYMOUS_CODING C6orf165 MODERATE|MISSENSE|gCa/gAa|A407E|622|C6orf165|protein_coding|CODING|ENST00000369562|exon_6_88140751_88140891 0/1:99:221,0,255 . 0/1:99:255,0,255 . 6 88239266 rs17850652 T C NON_SYNONYMOUS_CODING RARS2 MODERATE|MISSENSE|aAa/aGa|K291R|578|RARS2|protein_coding|CODING|ENST00000369536|exon_6_88239260_88239366 . . 0/1:99:255,0,201 0/1:99:255,0,255 6 88240570 rs35862137 C T NON_SYNONYMOUS_CODING RARS2 MODERATE|MISSENSE|Gtg/Atg|V235M|578|RARS2|protein_coding|CODING|ENST00000369536|exon_6_88240502_88240660 . 0/1:99:255,0,255 . . 6 90048186 . G A NON_SYNONYMOUS_CODING UBE2J1 MODERATE|MISSENSE|tCg/tTg|S105L|318|UBE2J1|protein_coding|CODING|ENST00000435041|exon_6_90048178_90048262 . 0/1:99:190,0,255 . . 6 90048186 . G A NON_SYNONYMOUS_CODING UBE2J1 MODERATE|MISSENSE|tCg/tTg|S90L|303|UBE2J1|protein_coding|CODING|ENST00000536477|exon_6_90048178_90048262 . 0/1:99:190,0,255 . . 6 90276733 rs199519943 G A NON_SYNONYMOUS_CODING ANKRD6 MODERATE|MISSENSE|cGc/cAc|R13H|101|ANKRD6|protein_coding|CODING|ENST00000523798|exon_6_90276553_90276815 . . . 0/1:99:234,0,206 6 90276733 rs199519943 G A NON_SYNONYMOUS_CODING ANKRD6 MODERATE|MISSENSE|cGc/cAc|R13H|117|ANKRD6|protein_coding|CODING|ENST00000522705|exon_6_90276553_90276815 . . . 0/1:99:234,0,206 6 90276733 rs199519943 G A NON_SYNONYMOUS_CODING ANKRD6 MODERATE|MISSENSE|cGc/cAc|R13H|174|ANKRD6|protein_coding|CODING|ENST00000465722|exon_6_90276553_90276815 . . . 0/1:99:234,0,206 6 90276733 rs199519943 G A NON_SYNONYMOUS_CODING ANKRD6 MODERATE|MISSENSE|cGc/cAc|R13H|229|ANKRD6|protein_coding|CODING|ENST00000518150|exon_6_90276649_90276815 . . . 0/1:99:234,0,206 6 90276733 rs199519943 G A NON_SYNONYMOUS_CODING ANKRD6 MODERATE|MISSENSE|cGc/cAc|R13H|307|ANKRD6|protein_coding|CODING|ENST00000485637|exon_6_90276553_90276815 . . . 0/1:99:234,0,206 6 90276733 rs199519943 G A NON_SYNONYMOUS_CODING ANKRD6 MODERATE|MISSENSE|cGc/cAc|R13H|53|ANKRD6|protein_coding|CODING|ENST00000522779|exon_6_90276553_90276815 . . . 0/1:99:234,0,206 6 90276733 rs199519943 G A NON_SYNONYMOUS_CODING ANKRD6 MODERATE|MISSENSE|cGc/cAc|R13H|663|ANKRD6|protein_coding|CODING|ENST00000520793|exon_6_90276695_90276815 . . . 0/1:99:234,0,206 6 90276733 rs199519943 G A NON_SYNONYMOUS_CODING ANKRD6 MODERATE|MISSENSE|cGc/cAc|R13H|692|ANKRD6|protein_coding|CODING|ENST00000369408|exon_6_90276553_90276815 . . . 0/1:99:234,0,206 6 90276733 rs199519943 G A NON_SYNONYMOUS_CODING ANKRD6 MODERATE|MISSENSE|cGc/cAc|R13H|722|ANKRD6|protein_coding|CODING|ENST00000447838|exon_6_90276553_90276815 . . . 0/1:99:234,0,206 6 90276733 rs199519943 G A NON_SYNONYMOUS_CODING ANKRD6 MODERATE|MISSENSE|cGc/cAc|R13H|727|ANKRD6|protein_coding|CODING|ENST00000339746|exon_6_90276553_90276815 . . . 0/1:99:234,0,206 6 90276733 rs199519943 G A NON_SYNONYMOUS_CODING ANKRD6 MODERATE|MISSENSE|cGc/cAc|R13H|727|ANKRD6|protein_coding|CODING|ENST00000522441|exon_6_90276553_90276815 . . . 0/1:99:234,0,206 6 90276733 rs199519943 G A NON_SYNONYMOUS_CODING ANKRD6 MODERATE|MISSENSE|cGc/cAc|R13H|79|ANKRD6|protein_coding|CODING|ENST00000520458|exon_6_90276553_90276815 . . . 0/1:99:234,0,206 6 90660954 rs61754114 G C NON_SYNONYMOUS_CODING BACH2 MODERATE|MISSENSE|Ctc/Gtc|L291V|841|BACH2|protein_coding|CODING|ENST00000257749|exon_6_90659989_90661581 . . 0/1:99:240,0,230 . 6 90660954 rs61754114 G C NON_SYNONYMOUS_CODING BACH2 MODERATE|MISSENSE|Ctc/Gtc|L291V|841|BACH2|protein_coding|CODING|ENST00000343122|exon_6_90659989_90661581 . . 0/1:99:240,0,230 . 6 90660954 rs61754114 G C NON_SYNONYMOUS_CODING BACH2 MODERATE|MISSENSE|Ctc/Gtc|L291V|841|BACH2|protein_coding|CODING|ENST00000537989|exon_6_90659989_90661581 . . 0/1:99:240,0,230 . 6 91261860 rs149444442 T C NON_SYNONYMOUS_CODING MAP3K7 MODERATE|MISSENSE|Att/Gtt|I186V|418|MAP3K7|protein_coding|CODING|ENST00000450832|exon_6_91261768_91261898 . 0/1:99:255,0,255 . . 6 91261860 rs149444442 T C NON_SYNONYMOUS_CODING MAP3K7 MODERATE|MISSENSE|Att/Gtt|I259V|491|MAP3K7|protein_coding|CODING|ENST00000369327|exon_6_91261768_91261898 . 0/1:99:255,0,255 . . 6 91261860 rs149444442 T C NON_SYNONYMOUS_CODING MAP3K7 MODERATE|MISSENSE|Att/Gtt|I259V|518|MAP3K7|protein_coding|CODING|ENST00000369325|exon_6_91261768_91261898 . 0/1:99:255,0,255 . . 6 91261860 rs149444442 T C NON_SYNONYMOUS_CODING MAP3K7 MODERATE|MISSENSE|Att/Gtt|I259V|579|MAP3K7|protein_coding|CODING|ENST00000369332|exon_6_91261768_91261898 . 0/1:99:255,0,255 . . 6 91261860 rs149444442 T C NON_SYNONYMOUS_CODING MAP3K7 MODERATE|MISSENSE|Att/Gtt|I259V|606|MAP3K7|protein_coding|CODING|ENST00000369329|exon_6_91261768_91261898 . 0/1:99:255,0,255 . . 6 96034844 rs62619206 C T NON_SYNONYMOUS_CODING MANEA MODERATE|MISSENSE|Cgc/Tgc|R177C|198|MANEA|protein_coding|CODING|ENST00000369293|exon_6_96034278_96035257 . . . 0/1:99:255,0,231 6 96034844 rs62619206 C T NON_SYNONYMOUS_CODING MANEA MODERATE|MISSENSE|Cgc/Tgc|R177C|207|MANEA|protein_coding|CODING|ENST00000542500|exon_6_96034278_96034873 . . . 0/1:99:255,0,231 6 96034844 rs62619206 C T NON_SYNONYMOUS_CODING MANEA MODERATE|MISSENSE|Cgc/Tgc|R177C|462|MANEA|protein_coding|CODING|ENST00000358812|exon_6_96034278_96034859 . . . 0/1:99:255,0,231 6 96053922 rs35772543 T A NON_SYNONYMOUS_CODING MANEA MODERATE|MISSENSE|Ttt/Att|F344I|462|MANEA|protein_coding|CODING|ENST00000358812|exon_6_96053624_96057333 . . . 0/1:99:255,0,255 6 96054262 rs75510775 G A NON_SYNONYMOUS_CODING MANEA MODERATE|MISSENSE|cGc/cAc|R457H|462|MANEA|protein_coding|CODING|ENST00000358812|exon_6_96053624_96057333 . . . 0/1:99:252,0,255 6 97414949 rs35143662 C T NON_SYNONYMOUS_CODING KLHL32 MODERATE|MISSENSE|Cgc/Tgc|R5C|139|KLHL32|protein_coding|CODING|ENST00000369254|exon_6_97414885_97414959 . 0/1:99:221,0,255 . . 6 97414949 rs35143662 C T NON_SYNONYMOUS_CODING KLHL32 MODERATE|MISSENSE|Cgc/Tgc|R5C|551|KLHL32|protein_coding|CODING|ENST00000539200|exon_6_97414872_97414959 . 0/1:99:221,0,255 . . 6 97414949 rs35143662 C T NON_SYNONYMOUS_CODING KLHL32 MODERATE|MISSENSE|Cgc/Tgc|R5C|584|KLHL32|protein_coding|CODING|ENST00000536676|exon_6_97414872_97414959 . 0/1:99:221,0,255 . . 6 97414949 rs35143662 C T NON_SYNONYMOUS_CODING KLHL32 MODERATE|MISSENSE|Cgc/Tgc|R5C|620|KLHL32|protein_coding|CODING|ENST00000369261|exon_6_97414872_97414959 . 0/1:99:221,0,255 . . 6 97599674 rs138146580 G A NON_SYNONYMOUS_CODING MMS22L MODERATE|MISSENSE|cCt/cTt|P1112L|1203|MMS22L|protein_coding|CODING|ENST00000369251|exon_6_97599647_97599743 . . . 0/1:99:244,0,239 6 97599674 rs138146580 G A NON_SYNONYMOUS_CODING MMS22L MODERATE|MISSENSE|cCt/cTt|P1152L|1243|MMS22L|protein_coding|CODING|ENST00000275053|exon_6_97599647_97599743 . . . 0/1:99:244,0,239 6 100957344 rs240768 T C NON_SYNONYMOUS_CODING ASCC3 MODERATE|MISSENSE|tAt/tGt|Y2176C|2202|ASCC3|protein_coding|CODING|ENST00000369162|exon_6_100956070_100957409 0/1:99:255,0,255 . . . 6 100966006 rs3213542 C T NON_SYNONYMOUS_CODING ASCC3 MODERATE|MISSENSE|Gtg/Atg|V1930M|2202|ASCC3|protein_coding|CODING|ENST00000369162|exon_6_100965867_100966018 0/1:99:255,0,255 . . . 6 102192524 rs9498684 G C NON_SYNONYMOUS_CODING GRIK2 MODERATE|MISSENSE|caG/caC|Q334H|353|GRIK2|protein_coding|CODING|ENST00000358361|exon_6_102192474_102193018 . . 0/1:99:219,0,203 . 6 107067176 . G A NON_SYNONYMOUS_CODING RTN4IP1 MODERATE|MISSENSE|aCt/aTt|T174I|226|RTN4IP1|protein_coding|CODING|ENST00000539449|exon_6_107067077_107067201 0/1:99:255,0,178 . . . 6 107067176 . G A NON_SYNONYMOUS_CODING RTN4IP1 MODERATE|MISSENSE|aCt/aTt|T174I|396|RTN4IP1|protein_coding|CODING|ENST00000369063|exon_6_107067077_107067201 0/1:99:255,0,178 . . . 6 109752451 rs9398200 T C NON_SYNONYMOUS_CODING PPIL6 MODERATE|MISSENSE|cAc/cGc|H110R|311|PPIL6|protein_coding|CODING|ENST00000521072|exon_6_109752360_109752548 0/1:99:255,0,225 . . . 6 109752451 rs9398200 T C NON_SYNONYMOUS_CODING PPIL6 MODERATE|MISSENSE|cAc/cGc|H110R|337|PPIL6|protein_coding|CODING|ENST00000440797|exon_6_109752360_109752548 0/1:99:255,0,225 . . . 6 109752451 rs9398200 T C NON_SYNONYMOUS_CODING PPIL6 MODERATE|MISSENSE|cAc/cGc|H67R|204|PPIL6|protein_coding|CODING|ENST00000417394|exon_6_109752360_109752548 0/1:99:255,0,225 . . . 6 109752451 rs9398200 T C NON_SYNONYMOUS_CODING PPIL6 MODERATE|MISSENSE|cAc/cGc|H78R|279|PPIL6|protein_coding|CODING|ENST00000424445|exon_6_109752360_109752548 0/1:99:255,0,225 . . . 6 109762332 rs1048197 C T NON_SYNONYMOUS_CODING SMPD2 MODERATE|MISSENSE|cCc/cTc|P3L|423|SMPD2|protein_coding|CODING|ENST00000258052|exon_6_109761966_109762374 . 0/1:99:148,0,121 . . 6 109767039 rs186550956 T C NON_SYNONYMOUS_CODING MICAL1 MODERATE|MISSENSE|Aaa/Gaa|K126E|323|MICAL1|protein_coding|CODING|ENST00000335266|exon_6_109766974_109767065 . . 0/1:99:225,0,194 . 6 109767039 rs186550956 T C NON_SYNONYMOUS_CODING MICAL1 MODERATE|MISSENSE|Aaa/Gaa|K394E|591|MICAL1|protein_coding|CODING|ENST00000368957|exon_6_109766974_109767065 . . 0/1:99:225,0,194 . 6 109767039 rs186550956 T C NON_SYNONYMOUS_CODING MICAL1 MODERATE|MISSENSE|Aaa/Gaa|K784E|981|MICAL1|protein_coding|CODING|ENST00000358577|exon_6_109766974_109767065 . . 0/1:99:225,0,194 . 6 109767039 rs186550956 T C NON_SYNONYMOUS_CODING MICAL1 MODERATE|MISSENSE|Aaa/Gaa|K870E|1067|MICAL1|protein_coding|CODING|ENST00000358807|exon_6_109766974_109767065 . . 0/1:99:225,0,194 . 6 109767039 rs186550956 T C NON_SYNONYMOUS_CODING MICAL1 MODERATE|MISSENSE|Aaa/Gaa|K889E|1086|MICAL1|protein_coding|CODING|ENST00000368952|exon_6_109766974_109767065 . . 0/1:99:225,0,194 . 6 109771691 rs61731700 G A NON_SYNONYMOUS_CODING MICAL1 MODERATE|MISSENSE|Cgg/Tgg|R335W|1067|MICAL1|protein_coding|CODING|ENST00000358807|exon_6_109771503_109771760 0/1:99:180,0,249 . . . 6 109771691 rs61731700 G A NON_SYNONYMOUS_CODING MICAL1 MODERATE|MISSENSE|Cgg/Tgg|R354W|1086|MICAL1|protein_coding|CODING|ENST00000368952|exon_6_109771503_109771760 0/1:99:180,0,249 . . . 6 109885417 rs201166033 T G NON_SYNONYMOUS_CODING AKD1 MODERATE|MISSENSE|aAg/aCg|K834T|1911|AKD1|protein_coding|CODING|ENST00000424296|exon_6_109885283_109885483 . 0/1:99:255,0,255 . . 6 110064928 rs2295837 A T NON_SYNONYMOUS_CODING FIG4 MODERATE|MISSENSE|Atg/Ttg|M364L|907|FIG4|protein_coding|CODING|ENST00000230124|exon_6_110064878_110064975 . 0/1:99:255,0,188 . . 6 110064928 rs2295837 A T NON_SYNONYMOUS_CODING FIG4 MODERATE|MISSENSE|Atg/Ttg|M87L|601|FIG4|protein_coding|CODING|ENST00000441478|exon_6_110064878_110064975 . 0/1:99:255,0,188 . . 6 110107517 rs9885672 T C NON_SYNONYMOUS_CODING FIG4 MODERATE|MISSENSE|gTg/gCg|V377A|601|FIG4|protein_coding|CODING|ENST00000441478|exon_6_110107505_110107652 0/1:99:255,0,255 0/1:99:178,0,255 . . 6 110107517 rs9885672 T C NON_SYNONYMOUS_CODING FIG4 MODERATE|MISSENSE|gTg/gCg|V654A|907|FIG4|protein_coding|CODING|ENST00000230124|exon_6_110107505_110107652 0/1:99:255,0,255 0/1:99:178,0,255 . . 6 110763804 . T C NON_SYNONYMOUS_CODING SLC22A16 MODERATE|MISSENSE|Aca/Gca|T106A|266|SLC22A16|protein_coding|CODING|ENST00000434949|exon_6_110763447_110763978 0/1:99:200,0,255 . . . 6 110763804 . T C NON_SYNONYMOUS_CODING SLC22A16 MODERATE|MISSENSE|Aca/Gca|T193A|432|SLC22A16|protein_coding|CODING|ENST00000451557|exon_6_110763447_110763978 0/1:99:200,0,255 . . . 6 110763804 . T C NON_SYNONYMOUS_CODING SLC22A16 MODERATE|MISSENSE|Aca/Gca|T233A|350|SLC22A16|protein_coding|CODING|ENST00000437378|exon_6_110763447_110763978 0/1:99:200,0,255 . . . 6 110763804 . T C NON_SYNONYMOUS_CODING SLC22A16 MODERATE|MISSENSE|Aca/Gca|T242A|543|SLC22A16|protein_coding|CODING|ENST00000330550|exon_6_110763447_110763978 0/1:99:200,0,255 . . . 6 110763804 . T C NON_SYNONYMOUS_CODING SLC22A16 MODERATE|MISSENSE|Aca/Gca|T276A|515|SLC22A16|protein_coding|CODING|ENST00000439654|exon_6_110763447_110763978 0/1:99:200,0,255 . . . 6 110763804 . T C NON_SYNONYMOUS_CODING SLC22A16 MODERATE|MISSENSE|Aca/Gca|T276A|577|SLC22A16|protein_coding|CODING|ENST00000368919|exon_6_110763447_110763978 0/1:99:200,0,255 . . . 6 111288941 rs41289884 T C NON_SYNONYMOUS_CODING GTF3C6 MODERATE|MISSENSE|aTa/aCa|I197T|213|GTF3C6|protein_coding|CODING|ENST00000329970|exon_6_111288713_111289093 0/1:99:230,0,255 . . . 6 114181301 . GTGAGGCTGAGGC GTGAGGCTGAGGCTGAGGC CODON_CHANGE_PLUS_CODON_INSERTION MARCKS MODERATE||gcg/gcTGAGGCg|A186AEA|332|MARCKS|protein_coding|CODING|ENST00000368635|exon_6_114180859_114184648 . . . 0/1:75:73,0,82 6 116325108 rs34064900 G A NON_SYNONYMOUS_CODING FRK MODERATE|MISSENSE|tCa/tTa|S133L|505|FRK|protein_coding|CODING|ENST00000368626|exon_6_116325040_116325161 . . 0/1:99:255,0,175 . 6 116441646 rs2228547 C G NON_SYNONYMOUS_CODING COL10A1 MODERATE|MISSENSE|Ggg/Cgg|G545R|680|COL10A1|protein_coding|CODING|ENST00000243222|exon_6_116440086_116443124 0/1:99:255,0,255 . . . 6 116441646 rs2228547 C G NON_SYNONYMOUS_CODING COL10A1 MODERATE|MISSENSE|Ggg/Cgg|G545R|680|COL10A1|protein_coding|CODING|ENST00000327673|exon_6_116440189_116443124 0/1:99:255,0,255 . . . 6 116574994 rs201531864 C G NON_SYNONYMOUS_CODING TSPYL4 MODERATE|MISSENSE|Ggg/Cgg|G60R|414|TSPYL4|protein_coding|CODING|ENST00000420283|exon_6_116571151_116575261 0/1:99:237,0,233 . . . 6 117083172 rs41306045 C T NON_SYNONYMOUS_CODING FAM162B MODERATE|MISSENSE|Gcc/Acc|A120T|162|FAM162B|protein_coding|CODING|ENST00000368557|exon_6_117083140_117083248 . . . 0/1:99:255,0,237 6 117609806 . T A NON_SYNONYMOUS_CODING ROS1 MODERATE|MISSENSE|gAa/gTa|E2292V|2341|ROS1|protein_coding|CODING|ENST00000368507|exon_6_117609463_117609965 . . 0/1:99:250,0,251 . 6 117609806 . T A NON_SYNONYMOUS_CODING ROS1 MODERATE|MISSENSE|gAa/gTa|E2298V|2347|ROS1|protein_coding|CODING|ENST00000368508|exon_6_117609463_117609965 . . 0/1:99:250,0,251 . 6 117650532 rs12664076 C G NON_SYNONYMOUS_CODING ROS1 MODERATE|MISSENSE|Gat/Cat|D1770H|2341|ROS1|protein_coding|CODING|ENST00000368507|exon_6_117650492_117650609 0/1:99:224,0,255 . . . 6 117650532 rs12664076 C G NON_SYNONYMOUS_CODING ROS1 MODERATE|MISSENSE|Gat/Cat|D1776H|2347|ROS1|protein_coding|CODING|ENST00000368508|exon_6_117650492_117650609 0/1:99:224,0,255 . . . 6 117650532 rs12664076 C G NON_SYNONYMOUS_CODING ROS1 MODERATE|MISSENSE|Gat/Cat|D83H|97|ROS1|protein_coding|CODING|ENST00000403284|exon_6_117650492_117650609 0/1:99:224,0,255 . . . 6 117710661 rs28639589 T C NON_SYNONYMOUS_CODING ROS1 MODERATE|MISSENSE|atA/atG|I537M|2347|ROS1|protein_coding|CODING|ENST00000368508|exon_6_117710513_117711009 . . . 0/1:99:235,0,225 6 117710661 rs28639589 T C NON_SYNONYMOUS_CODING ROS1 MODERATE|MISSENSE|atA/atG|I546M|2341|ROS1|protein_coding|CODING|ENST00000368507|exon_6_117710513_117711009 . . . 0/1:99:235,0,225 6 119137011 rs35917528 G A NON_SYNONYMOUS_CODING MCM9 MODERATE|MISSENSE|cCa/cTa|P422L|688|MCM9|protein_coding|CODING|ENST00000243218|exon_6_119135852_119137457 . 0/1:99:233,0,255 . . 6 119137011 rs35917528 G A NON_SYNONYMOUS_CODING MCM9 MODERATE|MISSENSE|cCa/cTa|P803L|1143|MCM9|protein_coding|CODING|ENST00000316316|exon_6_119134618_119137457 . 0/1:99:233,0,255 . . 6 119137445 rs78791427 C A NON_SYNONYMOUS_CODING MCM9 MODERATE|MISSENSE|caG/caT|Q277H|688|MCM9|protein_coding|CODING|ENST00000243218|exon_6_119135852_119137457 . . . 0/1:99:255,0,194 6 119137445 rs78791427 C A NON_SYNONYMOUS_CODING MCM9 MODERATE|MISSENSE|caG/caT|Q658H|1143|MCM9|protein_coding|CODING|ENST00000316316|exon_6_119134618_119137457 . . . 0/1:99:255,0,194 6 119297143 rs41292558 T A NON_SYNONYMOUS_CODING FAM184A MODERATE|MISSENSE|cAt/cTt|H4L|268|FAM184A|protein_coding|CODING|ENST00000521043|exon_6_119297082_119297153 . . 0/1:99:198,0,255 . 6 119297143 rs41292558 T A NON_SYNONYMOUS_CODING FAM184A MODERATE|MISSENSE|cAt/cTt|H721L|936|FAM184A|protein_coding|CODING|ENST00000368475|exon_6_119297082_119297209 . . 0/1:99:198,0,255 . 6 119297143 rs41292558 T A NON_SYNONYMOUS_CODING FAM184A MODERATE|MISSENSE|cAt/cTt|H721L|971|FAM184A|protein_coding|CODING|ENST00000352896|exon_6_119297082_119297209 . . 0/1:99:198,0,255 . 6 119297143 rs41292558 T A NON_SYNONYMOUS_CODING FAM184A MODERATE|MISSENSE|cAt/cTt|H841L|1056|FAM184A|protein_coding|CODING|ENST00000521531|exon_6_119297082_119297209 . . 0/1:99:198,0,255 . 6 119297143 rs41292558 T A NON_SYNONYMOUS_CODING FAM184A MODERATE|MISSENSE|cAt/cTt|H841L|1140|FAM184A|protein_coding|CODING|ENST00000338891|exon_6_119297082_119297209 . . 0/1:99:198,0,255 . 6 123594486 rs7771303 T C NON_SYNONYMOUS_CODING TRDN MODERATE|MISSENSE|atA/atG|I540M|721|TRDN|protein_coding|CODING|ENST00000334268|exon_6_123594482_123594508 0/1:99:255,0,255 . . . 6 123594486 rs7771303 T C NON_SYNONYMOUS_CODING TRDN MODERATE|MISSENSE|atA/atG|I540M|729|TRDN|protein_coding|CODING|ENST00000398178|exon_6_123594482_123594508 0/1:99:255,0,255 . . . 6 123594486 rs7771303 T C NON_SYNONYMOUS_CODING TRDN MODERATE|MISSENSE|atA/atG|I542M|731|TRDN|protein_coding|CODING|ENST00000398161|exon_6_123594482_123594508 0/1:99:255,0,255 . . . 6 123595807 . T G NON_SYNONYMOUS_CODING TRDN MODERATE|MISSENSE|Att/Ctt|I526L|721|TRDN|protein_coding|CODING|ENST00000334268|exon_6_123595786_123595815 0/1:99:255,0,255 . . . 6 123595807 . T G NON_SYNONYMOUS_CODING TRDN MODERATE|MISSENSE|Att/Ctt|I526L|729|TRDN|protein_coding|CODING|ENST00000398178|exon_6_123595786_123595815 0/1:99:255,0,255 . . . 6 123595807 . T G NON_SYNONYMOUS_CODING TRDN MODERATE|MISSENSE|Att/Ctt|I528L|731|TRDN|protein_coding|CODING|ENST00000398161|exon_6_123595786_123595815 0/1:99:255,0,255 . . . 6 123868506 rs192289289 C T NON_SYNONYMOUS_CODING TRDN MODERATE|MISSENSE|Gag/Aag|E135K|167|TRDN|protein_coding|CODING|ENST00000542443|exon_6_123868485_123868517 . . 0/1:99:255,0,255 . 6 123868506 rs192289289 C T NON_SYNONYMOUS_CODING TRDN MODERATE|MISSENSE|Gag/Aag|E135K|297|TRDN|protein_coding|CODING|ENST00000546248|exon_6_123868485_123868517 . . 0/1:99:255,0,255 . 6 123868506 rs192289289 C T NON_SYNONYMOUS_CODING TRDN MODERATE|MISSENSE|Gag/Aag|E135K|327|TRDN|protein_coding|CODING|ENST00000543022|exon_6_123868485_123868517 . . 0/1:99:255,0,255 . 6 123868506 rs192289289 C T NON_SYNONYMOUS_CODING TRDN MODERATE|MISSENSE|Gag/Aag|E135K|344|TRDN|protein_coding|CODING|ENST00000542014|exon_6_123868485_123868517 . . 0/1:99:255,0,255 . 6 123868506 rs192289289 C T NON_SYNONYMOUS_CODING TRDN MODERATE|MISSENSE|Gag/Aag|E135K|721|TRDN|protein_coding|CODING|ENST00000334268|exon_6_123868485_123868517 . . 0/1:99:255,0,255 . 6 123868506 rs192289289 C T NON_SYNONYMOUS_CODING TRDN MODERATE|MISSENSE|Gag/Aag|E135K|729|TRDN|protein_coding|CODING|ENST00000398178|exon_6_123868485_123868517 . . 0/1:99:255,0,255 . 6 123868506 rs192289289 C T NON_SYNONYMOUS_CODING TRDN MODERATE|MISSENSE|Gag/Aag|E135K|731|TRDN|protein_coding|CODING|ENST00000398161|exon_6_123868485_123868517 . . 0/1:99:255,0,255 . 6 123868506 rs192289289 C T NON_SYNONYMOUS_CODING TRDN MODERATE|MISSENSE|Gag/Aag|E40K|217|TRDN|protein_coding|CODING|ENST00000333613|exon_6_123868485_123868517 . . 0/1:99:255,0,255 . 6 123868506 rs192289289 C T NON_SYNONYMOUS_CODING TRDN MODERATE|MISSENSE|Gag/Aag|E40K|90|TRDN|protein_coding|CODING|ENST00000265491|exon_6_123868485_123868517 . . 0/1:99:255,0,255 . 6 124125367 rs78426148 T G NON_SYNONYMOUS_CODING NKAIN2 MODERATE|MISSENSE|Tgc/Ggc|C8G|139|NKAIN2|protein_coding|CODING|ENST00000546092|exon_6_124125346_124125399 . 0/1:57:54,0,200 . . 6 124125367 rs78426148 T G NON_SYNONYMOUS_CODING NKAIN2 MODERATE|MISSENSE|Tgc/Ggc|C8G|188|NKAIN2|protein_coding|CODING|ENST00000368416|exon_6_124125286_124125399 . 0/1:57:54,0,200 . . 6 124125367 rs78426148 T G NON_SYNONYMOUS_CODING NKAIN2 MODERATE|MISSENSE|Tgc/Ggc|C8G|208|NKAIN2|protein_coding|CODING|ENST00000368417|exon_6_124125286_124125399 . 0/1:57:54,0,200 . . 6 126210395 rs6919947 T G NON_SYNONYMOUS_CODING NCOA7 MODERATE|MISSENSE|Tct/Gct|S197A|439|NCOA7|protein_coding|CODING|ENST00000413085|exon_6_126210118_126211127 0/1:99:245,0,255 1/1:99:255,105,0 0/1:99:255,0,255 . 6 126210395 rs6919947 T G NON_SYNONYMOUS_CODING NCOA7 MODERATE|MISSENSE|Tct/Gct|S284A|827|NCOA7|protein_coding|CODING|ENST00000229634|exon_6_126210118_126211127 0/1:99:245,0,255 1/1:99:255,105,0 0/1:99:255,0,255 . 6 126210395 rs6919947 T G NON_SYNONYMOUS_CODING NCOA7 MODERATE|MISSENSE|Tct/Gct|S399A|942|NCOA7|protein_coding|CODING|ENST00000368357|exon_6_126210085_126211127 0/1:99:245,0,255 1/1:99:255,105,0 0/1:99:255,0,255 . 6 126210395 rs6919947 T G NON_SYNONYMOUS_CODING NCOA7 MODERATE|MISSENSE|Tct/Gct|S399A|942|NCOA7|protein_coding|CODING|ENST00000392477|exon_6_126210085_126211127 0/1:99:245,0,255 1/1:99:255,105,0 0/1:99:255,0,255 . 6 126210797 rs35223550 G A NON_SYNONYMOUS_CODING NCOA7 MODERATE|MISSENSE|Ggg/Agg|G331R|439|NCOA7|protein_coding|CODING|ENST00000413085|exon_6_126210118_126211127 . . . 0/1:99:255,0,255 6 126210797 rs35223550 G A NON_SYNONYMOUS_CODING NCOA7 MODERATE|MISSENSE|Ggg/Agg|G418R|827|NCOA7|protein_coding|CODING|ENST00000229634|exon_6_126210118_126211127 . . . 0/1:99:255,0,255 6 126210797 rs35223550 G A NON_SYNONYMOUS_CODING NCOA7 MODERATE|MISSENSE|Ggg/Agg|G533R|942|NCOA7|protein_coding|CODING|ENST00000368357|exon_6_126210085_126211127 . . . 0/1:99:255,0,255 6 126210797 rs35223550 G A NON_SYNONYMOUS_CODING NCOA7 MODERATE|MISSENSE|Ggg/Agg|G533R|942|NCOA7|protein_coding|CODING|ENST00000392477|exon_6_126210085_126211127 . . . 0/1:99:255,0,255 6 128128374 rs9767314 G C NON_SYNONYMOUS_CODING THEMIS MODERATE|MISSENSE|cCc/cGc|P621R|680|THEMIS|protein_coding|CODING|ENST00000543064|exon_6_128128361_128128477 . . . 0/1:99:234,0,166 6 129571330 rs3816665 G A NON_SYNONYMOUS_CODING LAMA2 MODERATE|MISSENSE|cGt/cAt|R619H|3121|LAMA2|protein_coding|CODING|ENST00000354729|exon_6_129571257_129571358 . . . 0/1:99:255,0,255 6 129571330 rs3816665 G A NON_SYNONYMOUS_CODING LAMA2 MODERATE|MISSENSE|cGt/cAt|R619H|3122|LAMA2|protein_coding|CODING|ENST00000358023|exon_6_129571257_129571358 . . . 0/1:99:255,0,255 6 129571330 rs3816665 G A NON_SYNONYMOUS_CODING LAMA2 MODERATE|MISSENSE|cGt/cAt|R619H|3122|LAMA2|protein_coding|CODING|ENST00000421865|exon_6_129571257_129571358 . . . 0/1:99:255,0,255 6 129813053 rs2244008 A G NON_SYNONYMOUS_CODING LAMA2 MODERATE|MISSENSE|Aca/Gca|T2635A|3121|LAMA2|protein_coding|CODING|ENST00000354729|exon_6_129813046_129813222 0/1:99:255,0,255 . . . 6 129813053 rs2244008 A G NON_SYNONYMOUS_CODING LAMA2 MODERATE|MISSENSE|Aca/Gca|T2636A|3122|LAMA2|protein_coding|CODING|ENST00000358023|exon_6_129813046_129813222 0/1:99:255,0,255 . . . 6 129813053 rs2244008 A G NON_SYNONYMOUS_CODING LAMA2 MODERATE|MISSENSE|Aca/Gca|T2636A|3122|LAMA2|protein_coding|CODING|ENST00000421865|exon_6_129813046_129813222 0/1:99:255,0,255 . . . 6 129813053 rs2244008 A G NON_SYNONYMOUS_CODING LAMA2 MODERATE|MISSENSE|Aca/Gca|T654A|1128|LAMA2|protein_coding|CODING|ENST00000443169|exon_6_129813046_129813222 0/1:99:255,0,255 . . . 6 130442042 . T G NON_SYNONYMOUS_CODING RP11-73O6.4.1 MODERATE|MISSENSE|gaT/gaG|D261E|406|RP11-73O6.4.1|protein_coding|CODING|ENST00000563385|exon_6_130442024_130442103 0/1:99:255,0,255 . . . 6 130442042 . T G NON_SYNONYMOUS_CODING L3MBTL3 MODERATE|MISSENSE|gaT/gaG|D610E|755|L3MBTL3|protein_coding|CODING|ENST00000368139|exon_6_130442024_130442103 0/1:99:255,0,255 . . . 6 130442042 . T G NON_SYNONYMOUS_CODING L3MBTL3 MODERATE|MISSENSE|gaT/gaG|D610E|755|L3MBTL3|protein_coding|CODING|ENST00000526019|exon_6_130442024_130442103 0/1:99:255,0,255 . . . 6 130442042 . T G NON_SYNONYMOUS_CODING L3MBTL3 MODERATE|MISSENSE|gaT/gaG|D610E|755|L3MBTL3|protein_coding|CODING|ENST00000533560|exon_6_130442024_130442103 0/1:99:255,0,255 . . . 6 130442042 . T G NON_SYNONYMOUS_CODING L3MBTL3 MODERATE|MISSENSE|gaT/gaG|D635E|780|L3MBTL3|protein_coding|CODING|ENST00000361794|exon_6_130442024_130442103 0/1:99:255,0,255 . . . 6 130442042 . T G NON_SYNONYMOUS_CODING L3MBTL3 MODERATE|MISSENSE|gaT/gaG|D635E|780|L3MBTL3|protein_coding|CODING|ENST00000368136|exon_6_130442024_130442103 0/1:99:255,0,255 . . . 6 130442042 . T G NON_SYNONYMOUS_CODING L3MBTL3 MODERATE|MISSENSE|gaT/gaG|D635E|780|L3MBTL3|protein_coding|CODING|ENST00000529410|exon_6_130442024_130442103 0/1:99:255,0,255 . . . 6 133013544 rs45562238 T C NON_SYNONYMOUS_CODING VNN1 MODERATE|MISSENSE|Act/Gct|T336A|513|VNN1|protein_coding|CODING|ENST00000367928|exon_6_133013362_133013723 . 0/1:99:255,0,194 . . 6 133014231 rs189034822 G A NON_SYNONYMOUS_CODING VNN1 MODERATE|MISSENSE|gCt/gTt|A253V|513|VNN1|protein_coding|CODING|ENST00000367928|exon_6_133014163_133014454 . . . 0/1:99:255,0,255 6 133015271 rs2272996 T C NON_SYNONYMOUS_CODING VNN1 MODERATE|MISSENSE|aAc/aGc|N131S|513|VNN1|protein_coding|CODING|ENST00000367928|exon_6_133015129_133015321 . . 0/1:99:248,0,245 . 6 133789728 rs9493627 G A NON_SYNONYMOUS_CODING EYA4 MODERATE|MISSENSE|Ggc/Agc|G223S|570|EYA4|protein_coding|CODING|ENST00000430974|exon_6_133789704_133789887 0/1:99:255,0,255 0/1:99:255,0,255 0/1:99:255,0,255 0/1:99:255,0,255 6 133789728 rs9493627 G A NON_SYNONYMOUS_CODING EYA4 MODERATE|MISSENSE|Ggc/Agc|G223S|585|EYA4|protein_coding|CODING|ENST00000452339|exon_6_133789704_133789869 0/1:99:255,0,255 0/1:99:255,0,255 0/1:99:255,0,255 0/1:99:255,0,255 6 133789728 rs9493627 G A NON_SYNONYMOUS_CODING EYA4 MODERATE|MISSENSE|Ggc/Agc|G254S|616|EYA4|protein_coding|CODING|ENST00000355286|exon_6_133789704_133789869 0/1:99:255,0,255 0/1:99:255,0,255 0/1:99:255,0,255 0/1:99:255,0,255 6 133789728 rs9493627 G A NON_SYNONYMOUS_CODING EYA4 MODERATE|MISSENSE|Ggc/Agc|G254S|616|EYA4|protein_coding|CODING|ENST00000525849|exon_6_133789704_133789869 0/1:99:255,0,255 0/1:99:255,0,255 0/1:99:255,0,255 0/1:99:255,0,255 6 133789728 rs9493627 G A NON_SYNONYMOUS_CODING EYA4 MODERATE|MISSENSE|Ggc/Agc|G277S|639|EYA4|protein_coding|CODING|ENST00000355167|exon_6_133789704_133789869 0/1:99:255,0,255 0/1:99:255,0,255 0/1:99:255,0,255 0/1:99:255,0,255 6 133789728 rs9493627 G A NON_SYNONYMOUS_CODING EYA4 MODERATE|MISSENSE|Ggc/Agc|G277S|639|EYA4|protein_coding|CODING|ENST00000367895|exon_6_133789704_133789869 0/1:99:255,0,255 0/1:99:255,0,255 0/1:99:255,0,255 0/1:99:255,0,255 6 133789728 rs9493627 G A NON_SYNONYMOUS_CODING EYA4 MODERATE|MISSENSE|Ggc/Agc|G277S|639|EYA4|protein_coding|CODING|ENST00000431403|exon_6_133789704_133789869 0/1:99:255,0,255 0/1:99:255,0,255 0/1:99:255,0,255 0/1:99:255,0,255 6 133789728 rs9493627 G A NON_SYNONYMOUS_CODING EYA4 MODERATE|MISSENSE|Ggc/Agc|G277S|645|EYA4|protein_coding|CODING|ENST00000531901|exon_6_133789704_133789887 0/1:99:255,0,255 0/1:99:255,0,255 0/1:99:255,0,255 0/1:99:255,0,255 6 135732502 . C A NON_SYNONYMOUS_CODING AHI1 MODERATE|MISSENSE|aGg/aTg|R336M|498|AHI1|protein_coding|CODING|ENST00000417892|exon_6_135732486_135732682 0/1:99:255,0,255 . . . 6 135732502 . C A NON_SYNONYMOUS_CODING AHI1 MODERATE|MISSENSE|aGg/aTg|R982M|1053|AHI1|protein_coding|CODING|ENST00000327035|exon_6_135732486_135732682 0/1:99:255,0,255 . . . 6 135732502 . C A NON_SYNONYMOUS_CODING AHI1 MODERATE|MISSENSE|aGg/aTg|R982M|1053|AHI1|protein_coding|CODING|ENST00000367801|exon_6_135732486_135732682 0/1:99:255,0,255 . . . 6 135732502 . C A NON_SYNONYMOUS_CODING AHI1 MODERATE|MISSENSE|aGg/aTg|R982M|1196|AHI1|protein_coding|CODING|ENST00000265602|exon_6_135732486_135732682 0/1:99:255,0,255 . . . 6 135732502 . C A NON_SYNONYMOUS_CODING AHI1 MODERATE|MISSENSE|aGg/aTg|R982M|1196|AHI1|protein_coding|CODING|ENST00000367800|exon_6_135732486_135732682 0/1:99:255,0,255 . . . 6 135732502 . C A NON_SYNONYMOUS_CODING AHI1 MODERATE|MISSENSE|aGg/aTg|R982M|1196|AHI1|protein_coding|CODING|ENST00000457866|exon_6_135732486_135732682 0/1:99:255,0,255 . . . 6 136359323 . TAGCAGCAGCAGCAGCAGCAG TAGCAGCAGCAGCAGCAGCAGCAG CODON_CHANGE_PLUS_CODON_INSERTION PDE7B MODERATE||aga/agCAGa|R56SR|586|PDE7B|protein_coding|CODING|ENST00000367787|exon_6_136359177_136359666 0/1:99:207,0,218 . . . 6 136597047 rs144796865 G A NON_SYNONYMOUS_CODING BCLAF1 MODERATE|MISSENSE|gCg/gTg|A366V|747|BCLAF1|protein_coding|CODING|ENST00000530767|exon_6_136596981_136597127 0/1:65:62,0,255 . . . 6 136597047 rs144796865 G A NON_SYNONYMOUS_CODING BCLAF1 MODERATE|MISSENSE|gCg/gTg|A537V|869|BCLAF1|protein_coding|CODING|ENST00000353331|exon_6_136596981_136597646 0/1:65:62,0,255 . . . 6 136597047 rs144796865 G A NON_SYNONYMOUS_CODING BCLAF1 MODERATE|MISSENSE|gCg/gTg|A537V|869|BCLAF1|protein_coding|CODING|ENST00000392348|exon_6_136596981_136597646 0/1:65:62,0,255 . . . 6 136597047 rs144796865 G A NON_SYNONYMOUS_CODING BCLAF1 MODERATE|MISSENSE|gCg/gTg|A537V|918|BCLAF1|protein_coding|CODING|ENST00000527759|exon_6_136596981_136597646 0/1:65:62,0,255 . . . 6 136597047 rs144796865 G A NON_SYNONYMOUS_CODING BCLAF1 MODERATE|MISSENSE|gCg/gTg|A539V|724|BCLAF1|protein_coding|CODING|ENST00000529826|exon_6_136596981_136597646 0/1:65:62,0,255 . . . 6 136597047 rs144796865 G A NON_SYNONYMOUS_CODING BCLAF1 MODERATE|MISSENSE|gCg/gTg|A539V|871|BCLAF1|protein_coding|CODING|ENST00000527536|exon_6_136596981_136597646 0/1:65:62,0,255 . . . 6 136597047 rs144796865 G A NON_SYNONYMOUS_CODING BCLAF1 MODERATE|MISSENSE|gCg/gTg|A539V|920|BCLAF1|protein_coding|CODING|ENST00000531224|exon_6_136596981_136597646 0/1:65:62,0,255 . . . 6 136599391 rs141173428 C T NON_SYNONYMOUS_CODING BCLAF1 MODERATE|MISSENSE|Ggt/Agt|G208S|869|BCLAF1|protein_coding|CODING|ENST00000353331|exon_6_136599003_136599908 0/1:80:77,0,255 . . . 6 136599391 rs141173428 C T NON_SYNONYMOUS_CODING BCLAF1 MODERATE|MISSENSE|Ggt/Agt|G208S|869|BCLAF1|protein_coding|CODING|ENST00000392348|exon_6_136599003_136599908 0/1:80:77,0,255 . . . 6 136599391 rs141173428 C T NON_SYNONYMOUS_CODING BCLAF1 MODERATE|MISSENSE|Ggt/Agt|G208S|918|BCLAF1|protein_coding|CODING|ENST00000527759|exon_6_136599003_136599908 0/1:80:77,0,255 . . . 6 136599391 rs141173428 C T NON_SYNONYMOUS_CODING BCLAF1 MODERATE|MISSENSE|Ggt/Agt|G210S|724|BCLAF1|protein_coding|CODING|ENST00000529826|exon_6_136599003_136599914 0/1:80:77,0,255 . . . 6 136599391 rs141173428 C T NON_SYNONYMOUS_CODING BCLAF1 MODERATE|MISSENSE|Ggt/Agt|G210S|747|BCLAF1|protein_coding|CODING|ENST00000530767|exon_6_136599003_136599914 0/1:80:77,0,255 . . . 6 136599391 rs141173428 C T NON_SYNONYMOUS_CODING BCLAF1 MODERATE|MISSENSE|Ggt/Agt|G210S|871|BCLAF1|protein_coding|CODING|ENST00000527536|exon_6_136599003_136599914 0/1:80:77,0,255 . . . 6 136599391 rs141173428 C T NON_SYNONYMOUS_CODING BCLAF1 MODERATE|MISSENSE|Ggt/Agt|G210S|920|BCLAF1|protein_coding|CODING|ENST00000531224|exon_6_136599003_136599914 0/1:80:77,0,255 . . . 6 136600965 . T C NON_SYNONYMOUS_CODING BCLAF1 MODERATE|MISSENSE|Aag/Gag|K14E|724|BCLAF1|protein_coding|CODING|ENST00000529826|exon_6_136600901_136601014 . 0/1:99:255,0,255 . . 6 136600965 . T C NON_SYNONYMOUS_CODING BCLAF1 MODERATE|MISSENSE|Aag/Gag|K14E|747|BCLAF1|protein_coding|CODING|ENST00000530767|exon_6_136600901_136601014 . 0/1:99:255,0,255 . . 6 136600965 . T C NON_SYNONYMOUS_CODING BCLAF1 MODERATE|MISSENSE|Aag/Gag|K14E|869|BCLAF1|protein_coding|CODING|ENST00000353331|exon_6_136600901_136601014 . 0/1:99:255,0,255 . . 6 136600965 . T C NON_SYNONYMOUS_CODING BCLAF1 MODERATE|MISSENSE|Aag/Gag|K14E|869|BCLAF1|protein_coding|CODING|ENST00000392348|exon_6_136600901_136601004 . 0/1:99:255,0,255 . . 6 136600965 . T C NON_SYNONYMOUS_CODING BCLAF1 MODERATE|MISSENSE|Aag/Gag|K14E|871|BCLAF1|protein_coding|CODING|ENST00000527536|exon_6_136600901_136601014 . 0/1:99:255,0,255 . . 6 136600965 . T C NON_SYNONYMOUS_CODING BCLAF1 MODERATE|MISSENSE|Aag/Gag|K14E|918|BCLAF1|protein_coding|CODING|ENST00000527759|exon_6_136600901_136601014 . 0/1:99:255,0,255 . . 6 136600965 . T C NON_SYNONYMOUS_CODING BCLAF1 MODERATE|MISSENSE|Aag/Gag|K14E|920|BCLAF1|protein_coding|CODING|ENST00000531224|exon_6_136600901_136601014 . 0/1:99:255,0,255 . . 6 136882717 rs45599539 G A NON_SYNONYMOUS_CODING MAP3K5 MODERATE|MISSENSE|aCc/aTc|T1314I|1374|MAP3K5|protein_coding|CODING|ENST00000359015|exon_6_136882671_136882783 . 0/1:99:255,0,231 . . 6 136882717 rs45599539 G A NON_SYNONYMOUS_CODING MAP3K5 MODERATE|MISSENSE|aCc/aTc|T561I|621|MAP3K5|protein_coding|CODING|ENST00000355845|exon_6_136882671_136882783 . 0/1:99:255,0,231 . . 6 136883665 . G C NON_SYNONYMOUS_CODING MAP3K5 MODERATE|MISSENSE|Ctg/Gtg|L1284V|1374|MAP3K5|protein_coding|CODING|ENST00000359015|exon_6_136883641_136883753 . . . 0/1:99:255,0,220 6 136883665 . G C NON_SYNONYMOUS_CODING MAP3K5 MODERATE|MISSENSE|Ctg/Gtg|L531V|621|MAP3K5|protein_coding|CODING|ENST00000355845|exon_6_136883641_136883753 . . . 0/1:99:255,0,220 6 137482840 rs28385692 A G NON_SYNONYMOUS_CODING IL22RA2 MODERATE|MISSENSE|cTt/cCt|L16P|130|IL22RA2|protein_coding|CODING|ENST00000339602|exon_6_137482826_137482951 0/1:99:255,0,221 . . . 6 137482840 rs28385692 A G NON_SYNONYMOUS_CODING IL22RA2 MODERATE|MISSENSE|cTt/cCt|L16P|231|IL22RA2|protein_coding|CODING|ENST00000349184|exon_6_137482826_137482951 0/1:99:255,0,221 . . . 6 137482840 rs28385692 A G NON_SYNONYMOUS_CODING IL22RA2 MODERATE|MISSENSE|cTt/cCt|L16P|263|IL22RA2|protein_coding|CODING|ENST00000296980|exon_6_137482826_137482951 0/1:99:255,0,221 . . . 6 138539315 rs6927706 A G NON_SYNONYMOUS_CODING PBOV1 MODERATE|MISSENSE|aTa/aCa|I73T|135|PBOV1|protein_coding|CODING|ENST00000527246|exon_6_138537123_138539628 . 0/1:99:255,0,255 . . 6 138726318 rs142901131 A C NON_SYNONYMOUS_CODING HEBP2 MODERATE|MISSENSE|Aag/Cag|K47Q|116|HEBP2|protein_coding|CODING|ENST00000367697|exon_6_138726282_138726417 . . . 0/1:99:199,0,195 6 138726318 rs142901131 A C NON_SYNONYMOUS_CODING HEBP2 MODERATE|MISSENSE|Aag/Cag|K47Q|205|HEBP2|protein_coding|CODING|ENST00000058691|exon_6_138726282_138726417 . . . 0/1:99:199,0,195 6 138726318 rs142901131 A C NON_SYNONYMOUS_CODING HEBP2 MODERATE|MISSENSE|Aag/Cag|K58Q|127|HEBP2|protein_coding|CODING|ENST00000448741|exon_6_138726282_138726417 . . . 0/1:99:199,0,195 6 138750903 . C T NON_SYNONYMOUS_CODING NHSL1 MODERATE|MISSENSE|Gta/Ata|V1344I|1606|NHSL1|protein_coding|CODING|ENST00000343505|exon_6_138750848_138750980 . . . 0/1:99:225,0,255 6 138750903 . C T NON_SYNONYMOUS_CODING NHSL1 MODERATE|MISSENSE|Gta/Ata|V1348I|1610|NHSL1|protein_coding|CODING|ENST00000427025|exon_6_138750848_138750980 . . . 0/1:99:225,0,255 6 139563937 rs142843391 G A NON_SYNONYMOUS_CODING TXLNB MODERATE|MISSENSE|cCt/cTt|P594L|684|TXLNB|protein_coding|CODING|ENST00000358430|exon_6_139561198_139564451 . . 0/1:99:255,0,209 . 6 142397030 rs142626832 G A NON_SYNONYMOUS_CODING NMBR MODERATE|MISSENSE|Cgg/Tgg|R310W|390|NMBR|protein_coding|CODING|ENST00000258042|exon_6_142396745_142397186 . . 0/1:99:255,0,255 . 6 142688969 rs17280293 A G NON_SYNONYMOUS_CODING GPR126 MODERATE|MISSENSE|Agt/Ggt|S122G|240|GPR126|protein_coding|CODING|ENST00000541199|exon_6_142688706_142689047 . . 0/1:99:255,0,255 . 6 142688969 rs17280293 A G NON_SYNONYMOUS_CODING GPR126 MODERATE|MISSENSE|Agt/Ggt|S123G|1193|GPR126|protein_coding|CODING|ENST00000296932|exon_6_142688706_142689047 . . 0/1:99:255,0,255 . 6 142688969 rs17280293 A G NON_SYNONYMOUS_CODING GPR126 MODERATE|MISSENSE|Agt/Ggt|S123G|1221|GPR126|protein_coding|CODING|ENST00000230173|exon_6_142688706_142689047 . . 0/1:99:255,0,255 . 6 142688969 rs17280293 A G NON_SYNONYMOUS_CODING GPR126 MODERATE|MISSENSE|Agt/Ggt|S123G|1222|GPR126|protein_coding|CODING|ENST00000367608|exon_6_142688706_142689047 . . 0/1:99:255,0,255 . 6 142688969 rs17280293 A G NON_SYNONYMOUS_CODING GPR126 MODERATE|MISSENSE|Agt/Ggt|S123G|1250|GPR126|protein_coding|CODING|ENST00000367609|exon_6_142688706_142689047 . . 0/1:99:255,0,255 . 6 142688969 rs17280293 A G NON_SYNONYMOUS_CODING GPR126 MODERATE|MISSENSE|Agt/Ggt|S123G|140|GPR126|protein_coding|CODING|ENST00000435011|exon_6_142688703_142689027 . . 0/1:99:255,0,255 . 6 143092458 . C T NON_SYNONYMOUS_CODING HIVEP2 MODERATE|MISSENSE|Gcg/Acg|A1140T|2446|HIVEP2|protein_coding|CODING|ENST00000012134|exon_6_143090689_143096262 . . . 0/1:99:169,0,214 6 143092458 . C T NON_SYNONYMOUS_CODING HIVEP2 MODERATE|MISSENSE|Gcg/Acg|A1140T|2446|HIVEP2|protein_coding|CODING|ENST00000367603|exon_6_143090689_143096262 . . . 0/1:99:169,0,214 6 143092458 . C T NON_SYNONYMOUS_CODING HIVEP2 MODERATE|MISSENSE|Gcg/Acg|A1140T|2446|HIVEP2|protein_coding|CODING|ENST00000367604|exon_6_143090689_143096262 . . . 0/1:99:169,0,214 6 144081609 rs2073214 C T NON_SYNONYMOUS_CODING PHACTR2 MODERATE|MISSENSE|Ccc/Tcc|P165S|634|PHACTR2|protein_coding|CODING|ENST00000427704|exon_6_144081538_144081777 0/1:99:244,0,255 . . . 6 144081609 rs2073214 C T NON_SYNONYMOUS_CODING PHACTR2 MODERATE|MISSENSE|Ccc/Tcc|P176S|645|PHACTR2|protein_coding|CODING|ENST00000440869|exon_6_144081538_144081777 0/1:99:244,0,255 . . . 6 144854342 rs35676466 G A NON_SYNONYMOUS_CODING UTRN MODERATE|MISSENSE|gGt/gAt|G2060D|3433|UTRN|protein_coding|CODING|ENST00000367545|exon_6_144854221_144854396 . . . 0/1:99:255,0,138 6 148865601 rs201379927 G A NON_SYNONYMOUS_CODING SASH1 MODERATE|MISSENSE|Gga/Aga|G409R|657|SASH1|protein_coding|CODING|ENST00000537769|exon_6_148864816_148865954 . 0/1:99:238,0,216 . . 6 148865601 rs201379927 G A NON_SYNONYMOUS_CODING SASH1 MODERATE|MISSENSE|Gga/Aga|G999R|1247|SASH1|protein_coding|CODING|ENST00000367467|exon_6_148864816_148865954 . 0/1:99:238,0,216 . . 6 149068627 rs9498146 A T NON_SYNONYMOUS_CODING UST MODERATE|MISSENSE|Atg/Ttg|M21L|406|UST|protein_coding|CODING|ENST00000367463|exon_6_149068464_149068813 . 0/1:99:178,0,143 . . 6 150174278 rs61745766 A C NON_SYNONYMOUS_CODING LRP11 MODERATE|MISSENSE|cTt/cGt|L211R|325|LRP11|protein_coding|CODING|ENST00000367368|exon_6_150174139_150174296 . 0/1:99:228,0,255 . . 6 150174278 rs61745766 A C NON_SYNONYMOUS_CODING LRP11 MODERATE|MISSENSE|cTt/cGt|L211R|500|LRP11|protein_coding|CODING|ENST00000239367|exon_6_150174139_150174296 . 0/1:99:228,0,255 . . 6 150240380 rs181773431 C T NON_SYNONYMOUS_CODING RAET1G MODERATE|MISSENSE|Gat/Aat|D144N|221|RAET1G|protein_coding|CODING|ENST00000479265|exon_6_150239843_150240460 . . . 0/1:99:230,0,178 6 150240380 rs181773431 C T NON_SYNONYMOUS_CODING RAET1G MODERATE|MISSENSE|Gat/Aat|D144N|334|RAET1G|protein_coding|CODING|ENST00000367360|exon_6_150240179_150240460 . . . 0/1:99:230,0,178 6 150716533 rs4407723 T A NON_SYNONYMOUS_CODING IYD MODERATE|MISSENSE|Ttt/Att|F176I|192|IYD|protein_coding|CODING|ENST00000425615|exon_6_150716530_150716668 1/1:99:255,102,0 0/1:99:255,0,255 . . 6 150716533 rs4407723 T A NON_SYNONYMOUS_CODING IYD MODERATE|MISSENSE|Ttt/Att|F231I|247|IYD|protein_coding|CODING|ENST00000392256|exon_6_150716530_150716590 1/1:99:255,102,0 0/1:99:255,0,255 . . 6 150716697 rs4479949 G A NON_SYNONYMOUS_CODING IYD MODERATE|MISSENSE|tGc/tAc|C265Y|270|IYD|protein_coding|CODING|ENST00000392255|exon_6_150716591_150716702 1/1:99:255,126,0 0/1:99:197,0,193 . . 6 150716697 rs4479949 G A NON_SYNONYMOUS_CODING IYD MODERATE|MISSENSE|tGc/tAc|C265Y|284|IYD|protein_coding|CODING|ENST00000500320|exon_6_150716591_150718026 1/1:99:255,126,0 0/1:99:197,0,193 . . 6 150716697 rs4479949 G A NON_SYNONYMOUS_CODING IYD MODERATE|MISSENSE|tGc/tAc|C265Y|293|IYD|protein_coding|CODING|ENST00000229447|exon_6_150716591_150716702 1/1:99:255,126,0 0/1:99:197,0,193 . . 6 151161086 rs17080410 T C NON_SYNONYMOUS_CODING PLEKHG1 MODERATE|MISSENSE|gTg/gCg|V1071A|1385|PLEKHG1|protein_coding|CODING|ENST00000358517|exon_6_151160969_151164799 . . . 0/1:99:255,0,255 6 151161086 rs17080410 T C NON_SYNONYMOUS_CODING PLEKHG1 MODERATE|MISSENSE|gTg/gCg|V1071A|1385|PLEKHG1|protein_coding|CODING|ENST00000367328|exon_6_151160969_151164799 . . . 0/1:99:255,0,255 6 151161116 rs61742396 G A NON_SYNONYMOUS_CODING PLEKHG1 MODERATE|MISSENSE|gGa/gAa|G1081E|1385|PLEKHG1|protein_coding|CODING|ENST00000358517|exon_6_151160969_151164799 . . . 0/1:99:210,0,255 6 151161116 rs61742396 G A NON_SYNONYMOUS_CODING PLEKHG1 MODERATE|MISSENSE|gGa/gAa|G1081E|1385|PLEKHG1|protein_coding|CODING|ENST00000367328|exon_6_151160969_151164799 . . . 0/1:99:210,0,255 6 151161836 rs17054318 T C NON_SYNONYMOUS_CODING PLEKHG1 MODERATE|MISSENSE|tTg/tCg|L1321S|1385|PLEKHG1|protein_coding|CODING|ENST00000358517|exon_6_151160969_151164799 . . . 0/1:99:255,0,248 6 151161836 rs17054318 T C NON_SYNONYMOUS_CODING PLEKHG1 MODERATE|MISSENSE|tTg/tCg|L1321S|1385|PLEKHG1|protein_coding|CODING|ENST00000367328|exon_6_151160969_151164799 . . . 0/1:99:255,0,248 6 151330963 . G A NON_SYNONYMOUS_CODING MTHFD1L MODERATE|MISSENSE|Gct/Act|A712T|978|MTHFD1L|protein_coding|CODING|ENST00000367321|exon_6_151330955_151331094 . . . 0/1:99:255,0,144 6 151672285 rs13212161 A G NON_SYNONYMOUS_CODING AKAP12 MODERATE|MISSENSE|gAa/gGa|E815G|1677|AKAP12|protein_coding|CODING|ENST00000359755|exon_6_151669846_151674887 . . . 0/1:99:198,0,213 6 151672285 rs13212161 A G NON_SYNONYMOUS_CODING AKAP12 MODERATE|MISSENSE|gAa/gGa|E822G|1684|AKAP12|protein_coding|CODING|ENST00000354675|exon_6_151669846_151674887 . . . 0/1:99:198,0,213 6 151672285 rs13212161 A G NON_SYNONYMOUS_CODING AKAP12 MODERATE|MISSENSE|gAa/gGa|E920G|1782|AKAP12|protein_coding|CODING|ENST00000253332|exon_6_151669846_151674887 . . . 0/1:99:198,0,213 6 151672285 rs13212161 A G NON_SYNONYMOUS_CODING AKAP12 MODERATE|MISSENSE|gAa/gGa|E920G|1782|AKAP12|protein_coding|CODING|ENST00000402676|exon_6_151669846_151674887 . . . 0/1:99:198,0,213 6 151673589 rs12201388 G A NON_SYNONYMOUS_CODING AKAP12 MODERATE|MISSENSE|Gaa/Aaa|E1250K|1677|AKAP12|protein_coding|CODING|ENST00000359755|exon_6_151669846_151674887 . . . 0/1:99:231,0,219 6 151673589 rs12201388 G A NON_SYNONYMOUS_CODING AKAP12 MODERATE|MISSENSE|Gaa/Aaa|E1257K|1684|AKAP12|protein_coding|CODING|ENST00000354675|exon_6_151669846_151674887 . . . 0/1:99:231,0,219 6 151673589 rs12201388 G A NON_SYNONYMOUS_CODING AKAP12 MODERATE|MISSENSE|Gaa/Aaa|E1355K|1782|AKAP12|protein_coding|CODING|ENST00000253332|exon_6_151669846_151674887 . . . 0/1:99:231,0,219 6 151673589 rs12201388 G A NON_SYNONYMOUS_CODING AKAP12 MODERATE|MISSENSE|Gaa/Aaa|E1355K|1782|AKAP12|protein_coding|CODING|ENST00000402676|exon_6_151669846_151674887 . . . 0/1:99:231,0,219 6 151674270 rs34713284 G A NON_SYNONYMOUS_CODING AKAP12 MODERATE|MISSENSE|Gtg/Atg|V1477M|1677|AKAP12|protein_coding|CODING|ENST00000359755|exon_6_151669846_151674887 . . . 0/1:99:251,0,253 6 151674270 rs34713284 G A NON_SYNONYMOUS_CODING AKAP12 MODERATE|MISSENSE|Gtg/Atg|V1484M|1684|AKAP12|protein_coding|CODING|ENST00000354675|exon_6_151669846_151674887 . . . 0/1:99:251,0,253 6 151674270 rs34713284 G A NON_SYNONYMOUS_CODING AKAP12 MODERATE|MISSENSE|Gtg/Atg|V1582M|1782|AKAP12|protein_coding|CODING|ENST00000253332|exon_6_151669846_151674887 . . . 0/1:99:251,0,253 6 151674270 rs34713284 G A NON_SYNONYMOUS_CODING AKAP12 MODERATE|MISSENSE|Gtg/Atg|V1582M|1782|AKAP12|protein_coding|CODING|ENST00000402676|exon_6_151669846_151674887 . . . 0/1:99:251,0,253 6 151674294 . G T NON_SYNONYMOUS_CODING AKAP12 MODERATE|MISSENSE|Gct/Tct|A1485S|1677|AKAP12|protein_coding|CODING|ENST00000359755|exon_6_151669846_151674887 . . . 0/1:99:242,0,202 6 151674294 . G T NON_SYNONYMOUS_CODING AKAP12 MODERATE|MISSENSE|Gct/Tct|A1492S|1684|AKAP12|protein_coding|CODING|ENST00000354675|exon_6_151669846_151674887 . . . 0/1:99:242,0,202 6 151674294 . G T NON_SYNONYMOUS_CODING AKAP12 MODERATE|MISSENSE|Gct/Tct|A1590S|1782|AKAP12|protein_coding|CODING|ENST00000253332|exon_6_151669846_151674887 . . . 0/1:99:242,0,202 6 151674294 . G T NON_SYNONYMOUS_CODING AKAP12 MODERATE|MISSENSE|Gct/Tct|A1590S|1782|AKAP12|protein_coding|CODING|ENST00000402676|exon_6_151669846_151674887 . . . 0/1:99:242,0,202 6 151917660 rs34430497 G A NON_SYNONYMOUS_CODING C6orf97 MODERATE|MISSENSE|cGa/cAa|R553Q|715|C6orf97|protein_coding|CODING|ENST00000239374|exon_6_151917470_151917712 . 0/1:99:241,0,255 0/1:99:255,0,255 . 6 151917660 rs34430497 G A NON_SYNONYMOUS_CODING C6orf97 MODERATE|MISSENSE|cGa/cAa|R553Q|722|C6orf97|protein_coding|CODING|ENST00000367290|exon_6_151917470_151917733 . 0/1:99:241,0,255 0/1:99:255,0,255 . 6 152640110 rs2306914 G A NON_SYNONYMOUS_CODING SYNE1 MODERATE|MISSENSE|aCg/aTg|T5099M|8409|SYNE1|protein_coding|CODING|ENST00000341594|exon_6_152639998_152640150 0/1:99:255,0,202 . . . 6 152640110 rs2306914 G A NON_SYNONYMOUS_CODING SYNE1 MODERATE|MISSENSE|aCg/aTg|T5355M|8749|SYNE1|protein_coding|CODING|ENST00000423061|exon_6_152639998_152640150 0/1:99:255,0,202 . . . 6 152640110 rs2306914 G A NON_SYNONYMOUS_CODING SYNE1 MODERATE|MISSENSE|aCg/aTg|T5355M|8749|SYNE1|protein_coding|CODING|ENST00000448038|exon_6_152639998_152640150 0/1:99:255,0,202 . . . 6 152640110 rs2306914 G A NON_SYNONYMOUS_CODING SYNE1 MODERATE|MISSENSE|aCg/aTg|T5426M|8797|SYNE1|protein_coding|CODING|ENST00000265368|exon_6_152639998_152640150 0/1:99:255,0,202 . . . 6 152640110 rs2306914 G A NON_SYNONYMOUS_CODING SYNE1 MODERATE|MISSENSE|aCg/aTg|T5426M|8797|SYNE1|protein_coding|CODING|ENST00000367255|exon_6_152639998_152640150 0/1:99:255,0,202 . . . 6 152658062 rs117501809 C G NON_SYNONYMOUS_CODING SYNE1 MODERATE|MISSENSE|Gat/Cat|D4013H|8409|SYNE1|protein_coding|CODING|ENST00000341594|exon_6_152657976_152658152 . . 0/1:99:255,0,185 . 6 152658062 rs117501809 C G NON_SYNONYMOUS_CODING SYNE1 MODERATE|MISSENSE|Gat/Cat|D4077H|8749|SYNE1|protein_coding|CODING|ENST00000423061|exon_6_152657976_152658152 . . 0/1:99:255,0,185 . 6 152658062 rs117501809 C G NON_SYNONYMOUS_CODING SYNE1 MODERATE|MISSENSE|Gat/Cat|D4077H|8749|SYNE1|protein_coding|CODING|ENST00000448038|exon_6_152657976_152658152 . . 0/1:99:255,0,185 . 6 152658062 rs117501809 C G NON_SYNONYMOUS_CODING SYNE1 MODERATE|MISSENSE|Gat/Cat|D4148H|8797|SYNE1|protein_coding|CODING|ENST00000265368|exon_6_152657976_152658152 . . 0/1:99:255,0,185 . 6 152658062 rs117501809 C G NON_SYNONYMOUS_CODING SYNE1 MODERATE|MISSENSE|Gat/Cat|D4148H|8797|SYNE1|protein_coding|CODING|ENST00000367255|exon_6_152657976_152658152 . . 0/1:99:255,0,185 . 6 152697692 rs117360770 G C NON_SYNONYMOUS_CODING SYNE1 MODERATE|MISSENSE|Ctt/Gtt|L3050V|8797|SYNE1|protein_coding|CODING|ENST00000265368|exon_6_152697516_152697693 . . 0/1:99:255,0,153 . 6 152697692 rs117360770 G C NON_SYNONYMOUS_CODING SYNE1 MODERATE|MISSENSE|Ctt/Gtt|L3050V|8797|SYNE1|protein_coding|CODING|ENST00000367255|exon_6_152697516_152697693 . . 0/1:99:255,0,153 . 6 152697692 rs117360770 G C NON_SYNONYMOUS_CODING SYNE1 MODERATE|MISSENSE|Ctt/Gtt|L3057V|8749|SYNE1|protein_coding|CODING|ENST00000423061|exon_6_152697516_152697693 . . 0/1:99:255,0,153 . 6 152697692 rs117360770 G C NON_SYNONYMOUS_CODING SYNE1 MODERATE|MISSENSE|Ctt/Gtt|L3057V|8749|SYNE1|protein_coding|CODING|ENST00000448038|exon_6_152697516_152697693 . . 0/1:99:255,0,153 . 6 152697692 rs117360770 G C NON_SYNONYMOUS_CODING SYNE1 MODERATE|MISSENSE|Ctt/Gtt|L3089V|8409|SYNE1|protein_coding|CODING|ENST00000341594|exon_6_152697516_152697693 . . 0/1:99:255,0,153 . 6 153296472 rs41302051 T C NON_SYNONYMOUS_CODING FBXO5 MODERATE|MISSENSE|Aca/Gca|T130A|447|FBXO5|protein_coding|CODING|ENST00000229758|exon_6_153296042_153296756 . . 0/1:99:255,0,255 . 6 153296472 rs41302051 T C NON_SYNONYMOUS_CODING FBXO5 MODERATE|MISSENSE|Aca/Gca|T84A|401|FBXO5|protein_coding|CODING|ENST00000367241|exon_6_153296042_153296756 . . 0/1:99:255,0,255 . 6 153667867 . C A NON_SYNONYMOUS_CODING AL590867.1 MODERATE|MISSENSE|Caa/Aaa|Q55K|295|AL590867.1|protein_coding|CODING|ENST00000392385|exon_6_153667581_153668623 . . 0/1:73:75,0,71 . 6 155153721 rs148047024 T A NON_SYNONYMOUS_CODING SCAF8 MODERATE|MISSENSE|cTt/cAt|L1003H|1271|SCAF8|protein_coding|CODING|ENST00000367178|exon_6_155153073_155155192 . 0/1:99:255,0,236 . . 6 155153721 rs148047024 T A NON_SYNONYMOUS_CODING SCAF8 MODERATE|MISSENSE|cTt/cAt|L1003H|1271|SCAF8|protein_coding|CODING|ENST00000417268|exon_6_155153073_155155190 . 0/1:99:255,0,236 . . 6 155153721 rs148047024 T A NON_SYNONYMOUS_CODING SCAF8 MODERATE|MISSENSE|cTt/cAt|L1069H|1337|SCAF8|protein_coding|CODING|ENST00000367186|exon_6_155153073_155155192 . 0/1:99:255,0,236 . . 6 155451352 rs931312 G A NON_SYNONYMOUS_CODING TIAM2 MODERATE|MISSENSE|cGt/cAt|R332H|1366|TIAM2|protein_coding|CODING|ENST00000528535|exon_6_155450352_155451551 0/1:99:255,0,255 . . . 6 155451352 rs931312 G A NON_SYNONYMOUS_CODING TIAM2 MODERATE|MISSENSE|cGt/cAt|R332H|1701|TIAM2|protein_coding|CODING|ENST00000318981|exon_6_155450352_155451551 0/1:99:255,0,255 . . . 6 155451352 rs931312 G A NON_SYNONYMOUS_CODING TIAM2 MODERATE|MISSENSE|cGt/cAt|R332H|1701|TIAM2|protein_coding|CODING|ENST00000461783|exon_6_155450352_155451551 0/1:99:255,0,255 . . . 6 155451352 rs931312 G A NON_SYNONYMOUS_CODING TIAM2 MODERATE|MISSENSE|cGt/cAt|R332H|1725|TIAM2|protein_coding|CODING|ENST00000360366|exon_6_155450306_155451551 0/1:99:255,0,255 . . . 6 155451352 rs931312 G A NON_SYNONYMOUS_CODING TIAM2 MODERATE|MISSENSE|cGt/cAt|R332H|1730|TIAM2|protein_coding|CODING|ENST00000456144|exon_6_155450352_155451551 0/1:99:255,0,255 . . . 6 155451352 rs931312 G A NON_SYNONYMOUS_CODING TIAM2 MODERATE|MISSENSE|cGt/cAt|R332H|1730|TIAM2|protein_coding|CODING|ENST00000529824|exon_6_155450358_155451551 0/1:99:255,0,255 . . . 6 155451352 rs931312 G A NON_SYNONYMOUS_CODING TIAM2 MODERATE|MISSENSE|cGt/cAt|R578H|1947|TIAM2|protein_coding|CODING|ENST00000528928|exon_6_155450352_155451551 0/1:99:255,0,255 . . . 6 155761246 rs3749930 G T NON_SYNONYMOUS_CODING NOX3 MODERATE|MISSENSE|aCa/aAa|T171K|568|NOX3|protein_coding|CODING|ENST00000159060|exon_6_155761090_155761271 . . . 0/1:99:236,0,255 6 158093942 rs73571886 G A NON_SYNONYMOUS_CODING ZDHHC14 MODERATE|MISSENSE|Gcc/Acc|A404T|473|ZDHHC14|protein_coding|CODING|ENST00000414563|exon_6_158093801_158094977 . 0/1:99:156,0,148 . . 6 158093942 rs73571886 G A NON_SYNONYMOUS_CODING ZDHHC14 MODERATE|MISSENSE|Gcc/Acc|A419T|488|ZDHHC14|protein_coding|CODING|ENST00000359775|exon_6_158093756_158099178 . 0/1:99:156,0,148 . . 6 158093942 rs73571886 G A NON_SYNONYMOUS_CODING ZDHHC14 MODERATE|MISSENSE|Gcc/Acc|A423T|492|ZDHHC14|protein_coding|CODING|ENST00000538483|exon_6_158093756_158094976 . 0/1:99:156,0,148 . . 6 158924338 rs34395018 C T NON_SYNONYMOUS_CODING TULP4 MODERATE|MISSENSE|Cca/Tca|P1215S|1543|TULP4|protein_coding|CODING|ENST00000367097|exon_6_158922710_158925210 . . . 0/1:98:177,0,95 6 159129382 . C T NON_SYNONYMOUS_CODING SYTL3 MODERATE|MISSENSE|Cct/Tct|P159S|542|SYTL3|protein_coding|CODING|ENST00000360448|exon_6_159129354_159129423 . 0/1:99:229,0,187 . . 6 159129382 . C T NON_SYNONYMOUS_CODING SYTL3 MODERATE|MISSENSE|Cct/Tct|P159S|567|SYTL3|protein_coding|CODING|ENST00000543689|exon_6_159129354_159129423 . 0/1:99:229,0,187 . . 6 159129382 . C T NON_SYNONYMOUS_CODING SYTL3 MODERATE|MISSENSE|Cct/Tct|P159S|610|SYTL3|protein_coding|CODING|ENST00000297239|exon_6_159129354_159129423 . 0/1:99:229,0,187 . . 6 159188477 rs139613796 G A NON_SYNONYMOUS_CODING EZR MODERATE|MISSENSE|cCg/cTg|P439L|554|EZR|protein_coding|CODING|ENST00000392177|exon_6_159188293_159188544 0/1:99:175,0,180 . . . 6 159188477 rs139613796 G A NON_SYNONYMOUS_CODING EZR MODERATE|MISSENSE|cCg/cTg|P471L|586|EZR|protein_coding|CODING|ENST00000337147|exon_6_159188293_159188544 0/1:99:175,0,180 . . . 6 159188477 rs139613796 G A NON_SYNONYMOUS_CODING EZR MODERATE|MISSENSE|cCg/cTg|P471L|586|EZR|protein_coding|CODING|ENST00000367075|exon_6_159188293_159188544 0/1:99:175,0,180 . . . 6 159399348 rs768994 A G NON_SYNONYMOUS_CODING RSPH3 MODERATE|MISSENSE|aTg/aCg|M201T|322|RSPH3|protein_coding|CODING|ENST00000449822|exon_6_159399292_159399378 0/1:99:255,0,245 . . . 6 159399348 rs768994 A G NON_SYNONYMOUS_CODING RSPH3 MODERATE|MISSENSE|aTg/aCg|M297T|418|RSPH3|protein_coding|CODING|ENST00000367069|exon_6_159399292_159399378 0/1:99:255,0,245 . . . 6 159399348 rs768994 A G NON_SYNONYMOUS_CODING RSPH3 MODERATE|MISSENSE|aTg/aCg|M343T|464|RSPH3|protein_coding|CODING|ENST00000297262|exon_6_159399292_159399378 0/1:99:255,0,245 . . . 6 159399348 rs768994 A G NON_SYNONYMOUS_CODING RSPH3 MODERATE|MISSENSE|aTg/aCg|M439T|560|RSPH3|protein_coding|CODING|ENST00000252655|exon_6_159399292_159399378 0/1:99:255,0,245 . . . 6 159414899 rs16889320 T C NON_SYNONYMOUS_CODING RSPH3 MODERATE|MISSENSE|aAc/aGc|N201S|464|RSPH3|protein_coding|CODING|ENST00000297262|exon_6_159414871_159414958 0/1:99:237,0,186 . . . 6 159414899 rs16889320 T C NON_SYNONYMOUS_CODING RSPH3 MODERATE|MISSENSE|aAc/aGc|N201S|560|RSPH3|protein_coding|CODING|ENST00000252655|exon_6_159414871_159414958 0/1:99:237,0,186 . . . 6 159414899 rs16889320 T C NON_SYNONYMOUS_CODING RSPH3 MODERATE|MISSENSE|aAc/aGc|N59S|322|RSPH3|protein_coding|CODING|ENST00000449822|exon_6_159414871_159414958 0/1:99:237,0,186 . . . 6 159414899 rs16889320 T C NON_SYNONYMOUS_CODING RSPH3 MODERATE|MISSENSE|aAc/aGc|N59S|418|RSPH3|protein_coding|CODING|ENST00000367069|exon_6_159414871_159414958 0/1:99:237,0,186 . . . 6 159420630 rs151230376 A T NON_SYNONYMOUS_CODING RSPH3 MODERATE|MISSENSE|Tgc/Agc|C127S|464|RSPH3|protein_coding|CODING|ENST00000297262|exon_6_159420467_159421198 . . 0/1:99:225,0,203 . 6 159420630 rs151230376 A T NON_SYNONYMOUS_CODING RSPH3 MODERATE|MISSENSE|Tgc/Agc|C127S|560|RSPH3|protein_coding|CODING|ENST00000252655|exon_6_159420467_159421198 . . 0/1:99:225,0,203 . 6 159420735 rs41267755 G A NON_SYNONYMOUS_CODING RSPH3 MODERATE|MISSENSE|Ccg/Tcg|P92S|464|RSPH3|protein_coding|CODING|ENST00000297262|exon_6_159420467_159421198 . . . 0/1:99:160,0,232 6 159420735 rs41267755 G A NON_SYNONYMOUS_CODING RSPH3 MODERATE|MISSENSE|Ccg/Tcg|P92S|560|RSPH3|protein_coding|CODING|ENST00000252655|exon_6_159420467_159421198 . . . 0/1:99:160,0,232 6 159653544 rs139265083 G A NON_SYNONYMOUS_CODING FNDC1 MODERATE|MISSENSE|cGg/cAg|R604Q|1831|FNDC1|protein_coding|CODING|ENST00000340366|exon_6_159652914_159655511 . . 0/1:99:192,0,174 . 6 159653544 rs139265083 G A NON_SYNONYMOUS_CODING FNDC1 MODERATE|MISSENSE|cGg/cAg|R667Q|1894|FNDC1|protein_coding|CODING|ENST00000297267|exon_6_159652914_159655511 . . 0/1:99:192,0,174 . 6 159655190 rs192765104 G A NON_SYNONYMOUS_CODING FNDC1 MODERATE|MISSENSE|Gat/Aat|D1153N|1831|FNDC1|protein_coding|CODING|ENST00000340366|exon_6_159652914_159655511 . . 0/1:99:207,0,245 . 6 159655190 rs192765104 G A NON_SYNONYMOUS_CODING FNDC1 MODERATE|MISSENSE|Gat/Aat|D1216N|1894|FNDC1|protein_coding|CODING|ENST00000297267|exon_6_159652914_159655511 . . 0/1:99:207,0,245 . 6 159667972 rs61746218 C T NON_SYNONYMOUS_CODING FNDC1 MODERATE|MISSENSE|aCg/aTg|T1491M|1831|FNDC1|protein_coding|CODING|ENST00000340366|exon_6_159667933_159668001 . . 0/1:99:255,0,198 . 6 159667972 rs61746218 C T NON_SYNONYMOUS_CODING FNDC1 MODERATE|MISSENSE|aCg/aTg|T1554M|1894|FNDC1|protein_coding|CODING|ENST00000297267|exon_6_159667933_159668001 . . 0/1:99:255,0,198 . 6 160448324 rs8191754 C G NON_SYNONYMOUS_CODING IGF2R MODERATE|MISSENSE|Ctg/Gtg|L252V|2491|IGF2R|protein_coding|CODING|ENST00000356956|exon_6_160448217_160448346 . 0/1:99:202,0,252 . . 6 160560880 . CATGAT CAT CODON_CHANGE_PLUS_CODON_DELETION SLC22A1 MODERATE||atgatt/att|MI420I|483|SLC22A1|protein_coding|CODING|ENST00000457470|exon_6_160560685_160560899 . . 0/1:75:72,0,255 . 6 160560880 . CATGAT CAT CODON_CHANGE_PLUS_CODON_DELETION SLC22A1 MODERATE||atgatt/att|MI420I|506|SLC22A1|protein_coding|CODING|ENST00000324965|exon_6_160560685_160560899 . . 0/1:75:72,0,255 . 6 160560880 . CATGAT CAT CODON_CHANGE_PLUS_CODON_DELETION SLC22A1 MODERATE||atgatt/att|MI420I|554|SLC22A1|protein_coding|CODING|ENST00000366963|exon_6_160560685_160560899 . . 0/1:75:72,0,255 . 6 160577011 rs41267797 G A NON_SYNONYMOUS_CODING SLC22A1 MODERATE|MISSENSE|Gtt/Att|V464I|506|SLC22A1|protein_coding|CODING|ENST00000324965|exon_6_160577007_160577106 . 0/1:99:239,0,246 . . 6 160952816 rs41267807 T C NON_SYNONYMOUS_CODING LPA MODERATE|MISSENSE|tAt/tGt|Y2023C|2040|LPA|protein_coding|CODING|ENST00000316300|exon_6_160952515_160952922 . . . 0/1:99:255,0,255 6 160952816 rs41267807 T C NON_SYNONYMOUS_CODING LPA MODERATE|MISSENSE|tAt/tGt|Y2023C|2040|LPA|protein_coding|CODING|ENST00000447678|exon_6_160952515_160952922 . . . 0/1:99:255,0,255 6 161413044 . ACCGCCGCCGCCGCC ACCGCCGCCGCCGCCGCC CODON_CHANGE_PLUS_CODON_INSERTION MAP3K4 MODERATE||cca/ccGCCa|P11PP|107|MAP3K4|protein_coding|CODING|ENST00000544209|exon_6_161412890_161413115 . 0/1:99:203,0,111 . . 6 161413044 . ACCGCCGCCGCCGCC ACCGCCGCCGCCGCCGCC CODON_CHANGE_PLUS_CODON_INSERTION MAP3K4 MODERATE||cca/ccGCCa|P32PP|1497|MAP3K4|protein_coding|CODING|ENST00000540111|exon_6_161412822_161413115 . 0/1:99:203,0,111 . . 6 161413044 . ACCGCCGCCGCCGCC ACCGCCGCCGCCGCCGCC CODON_CHANGE_PLUS_CODON_INSERTION MAP3K4 MODERATE||cca/ccGCCa|P32PP|1554|MAP3K4|protein_coding|CODING|ENST00000348824|exon_6_161412846_161413115 . 0/1:99:203,0,111 . . 6 161413044 . ACCGCCGCCGCCGCC ACCGCCGCCGCCGCCGCC CODON_CHANGE_PLUS_CODON_INSERTION MAP3K4 MODERATE||cca/ccGCCa|P32PP|1558|MAP3K4|protein_coding|CODING|ENST00000366919|exon_6_161412759_161413115 . 0/1:99:203,0,111 . . 6 161413044 . ACCGCCGCCGCCGCC ACCGCCGCCGCCGCCGCC CODON_CHANGE_PLUS_CODON_INSERTION MAP3K4 MODERATE||cca/ccGCCa|P32PP|1604|MAP3K4|protein_coding|CODING|ENST00000366920|exon_6_161412846_161413115 . 0/1:99:203,0,111 . . 6 161413044 . ACCGCCGCCGCCGCC ACCGCCGCCGCCGCCGCC CODON_CHANGE_PLUS_CODON_INSERTION MAP3K4 MODERATE||cca/ccGCCa|P32PP|1608|MAP3K4|protein_coding|CODING|ENST00000392142|exon_6_161412816_161413115 . 0/1:99:203,0,111 . . 6 161508880 rs35533223 A C NON_SYNONYMOUS_CODING MAP3K4 MODERATE|MISSENSE|cAc/cCc|H906P|1497|MAP3K4|protein_coding|CODING|ENST00000540111|exon_6_161508720_161508986 . 0/1:99:233,0,231 . . 6 161508880 rs35533223 A C NON_SYNONYMOUS_CODING MAP3K4 MODERATE|MISSENSE|cAc/cCc|H906P|1554|MAP3K4|protein_coding|CODING|ENST00000348824|exon_6_161508720_161508986 . 0/1:99:233,0,231 . . 6 161508880 rs35533223 A C NON_SYNONYMOUS_CODING MAP3K4 MODERATE|MISSENSE|cAc/cCc|H906P|1558|MAP3K4|protein_coding|CODING|ENST00000366919|exon_6_161508720_161508986 . 0/1:99:233,0,231 . . 6 161508880 rs35533223 A C NON_SYNONYMOUS_CODING MAP3K4 MODERATE|MISSENSE|cAc/cCc|H906P|1604|MAP3K4|protein_coding|CODING|ENST00000366920|exon_6_161508720_161508986 . 0/1:99:233,0,231 . . 6 161508880 rs35533223 A C NON_SYNONYMOUS_CODING MAP3K4 MODERATE|MISSENSE|cAc/cCc|H906P|1608|MAP3K4|protein_coding|CODING|ENST00000392142|exon_6_161508720_161508986 . 0/1:99:233,0,231 . . 6 161575165 rs2277092 T G NON_SYNONYMOUS_CODING AGPAT4 MODERATE|MISSENSE|Agc/Cgc|S114R|124|AGPAT4|protein_coding|CODING|ENST00000366906|exon_6_161574693_161575342 . 0/1:99:255,0,186 . 0/1:99:155,0,248 6 165712942 rs61733397 G C NON_SYNONYMOUS_CODING C6orf118 MODERATE|MISSENSE|gCa/gGa|A205G|303|C6orf118|protein_coding|CODING|ENST00000543069|exon_6_165712932_165712991 0/1:99:190,0,255 0/1:99:255,0,252 . . 6 165712942 rs61733397 G C NON_SYNONYMOUS_CODING C6orf118 MODERATE|MISSENSE|gCa/gGa|A309G|469|C6orf118|protein_coding|CODING|ENST00000230301|exon_6_165712932_165712991 0/1:99:190,0,255 0/1:99:255,0,252 . . 6 166739646 rs11551053 T C NON_SYNONYMOUS_CODING SFT2D1 MODERATE|MISSENSE|Ata/Gta|I109V|159|SFT2D1|protein_coding|CODING|ENST00000361731|exon_6_166739620_166739655 0/1:99:180,0,255 . . . 6 166780295 . G A NON_SYNONYMOUS_CODING BRP44L MODERATE|MISSENSE|Cgg/Tgg|R11W|66|BRP44L|protein_coding|CODING|ENST00000392123|exon_6_166780283_166780382 0/1:99:225,0,255 . . . 6 166780295 . G A NON_SYNONYMOUS_CODING BRP44L MODERATE|MISSENSE|Cgg/Tgg|R54W|109|BRP44L|protein_coding|CODING|ENST00000341756|exon_6_166780283_166780379 0/1:99:225,0,255 . . . 6 166780295 . G A NON_SYNONYMOUS_CODING BRP44L MODERATE|MISSENSE|Cgg/Tgg|R54W|109|BRP44L|protein_coding|CODING|ENST00000360961|exon_6_166780283_166780379 0/1:99:225,0,255 . . . 6 167352075 rs3777721 G C NON_SYNONYMOUS_CODING RNASET2 MODERATE|MISSENSE|agC/agG|S235R|238|RNASET2|protein_coding|CODING|ENST00000310843|exon_6_167352063_167352098 0/1:99:212,0,255 . . . 6 167352306 rs184584901 C A NON_SYNONYMOUS_CODING RNASET2 MODERATE|MISSENSE|Ggg/Tgg|G184W|207|RNASET2|protein_coding|CODING|ENST00000425007|exon_6_167352232_167352475 . . . 0/1:99:251,0,218 6 167352306 rs184584901 C A NON_SYNONYMOUS_CODING RNASET2 MODERATE|MISSENSE|agG/agT|R159S|238|RNASET2|protein_coding|CODING|ENST00000310843|exon_6_167352144_167352479 . . . 0/1:99:251,0,218 6 167417775 rs150980464 G T NON_SYNONYMOUS_CODING FGFR1OP MODERATE|MISSENSE|gaG/gaT|E108D|364|FGFR1OP|protein_coding|CODING|ENST00000420493|exon_6_167417752_167417889 . . . 0/1:99:255,0,255 6 167417775 rs150980464 G T NON_SYNONYMOUS_CODING FGFR1OP MODERATE|MISSENSE|gaG/gaT|E108D|379|FGFR1OP|protein_coding|CODING|ENST00000349556|exon_6_167417752_167417889 . . . 0/1:99:255,0,255 6 167417775 rs150980464 G T NON_SYNONYMOUS_CODING FGFR1OP MODERATE|MISSENSE|gaG/gaT|E108D|399|FGFR1OP|protein_coding|CODING|ENST00000366847|exon_6_167417752_167417889 . . . 0/1:99:255,0,255 6 167585654 rs142318145 G A NON_SYNONYMOUS_CODING TCP10L2 MODERATE|MISSENSE|Gcc/Acc|A8T|353|TCP10L2|protein_coding|CODING|ENST00000366832|exon_6_167585632_167585776 0/1:99:248,0,190 . . . 6 167585654 rs142318145 G A NON_SYNONYMOUS_CODING TCP10L2 MODERATE|MISSENSE|Gcc/Acc|A8T|43|TCP10L2|protein_coding|CODING|ENST00000486697|exon_6_167585632_167585765 0/1:99:248,0,190 . . . 6 167591954 rs200583385 G A NON_SYNONYMOUS_CODING TCP10L2 MODERATE|MISSENSE|cGt/cAt|R194H|353|TCP10L2|protein_coding|CODING|ENST00000366832|exon_6_167591872_167592030 . 0/1:97:94,0,122 . . 6 167594216 rs2297459 C T NON_SYNONYMOUS_CODING TCP10L2 MODERATE|MISSENSE|Cgg/Tgg|R289W|353|TCP10L2|protein_coding|CODING|ENST00000366832|exon_6_167594121_167594221 . 0/1:63:60,0,86 . . 6 167719436 rs2072767 G A NON_SYNONYMOUS_CODING UNC93A MODERATE|MISSENSE|Gtc/Atc|V250I|415|UNC93A|protein_coding|CODING|ENST00000366829|exon_6_167719403_167719538 . . 0/1:99:214,0,233 . 6 167719436 rs2072767 G A NON_SYNONYMOUS_CODING UNC93A MODERATE|MISSENSE|Gtc/Atc|V292I|457|UNC93A|protein_coding|CODING|ENST00000230256|exon_6_167719403_167719538 . . 0/1:99:214,0,233 . 6 167728775 rs9459921 G A NON_SYNONYMOUS_CODING UNC93A MODERATE|MISSENSE|atG/atA|M361I|415|UNC93A|protein_coding|CODING|ENST00000366829|exon_6_167728675_167729476 . . 0/1:99:157,0,144 . 6 167728775 rs9459921 G A NON_SYNONYMOUS_CODING UNC93A MODERATE|MISSENSE|atG/atA|M403I|457|UNC93A|protein_coding|CODING|ENST00000230256|exon_6_167728675_167729507 . . 0/1:99:157,0,144 . 6 167753788 rs148797490 G A NON_SYNONYMOUS_CODING TTLL2 MODERATE|MISSENSE|Gaa/Aaa|E134K|592|TTLL2|protein_coding|CODING|ENST00000239587|exon_6_167753593_167755375 0/1:99:252,0,255 . . . 6 167753788 rs148797490 G A NON_SYNONYMOUS_CODING TTLL2 MODERATE|MISSENSE|Gaa/Aaa|E61K|519|TTLL2|protein_coding|CODING|ENST00000540954|exon_6_167753593_167755266 0/1:99:252,0,255 . . . 6 167754710 rs41266331 A C NON_SYNONYMOUS_CODING TTLL2 MODERATE|MISSENSE|aAa/aCa|K368T|519|TTLL2|protein_coding|CODING|ENST00000540954|exon_6_167753593_167755266 . 0/1:99:255,0,255 . . 6 167754710 rs41266331 A C NON_SYNONYMOUS_CODING TTLL2 MODERATE|MISSENSE|aAa/aCa|K441T|592|TTLL2|protein_coding|CODING|ENST00000239587|exon_6_167753593_167755375 . 0/1:99:255,0,255 . . 6 167787862 rs79258919 C A NON_SYNONYMOUS_CODING TCP10 MODERATE|MISSENSE|Gcc/Tcc|A256S|298|TCP10|protein_coding|CODING|ENST00000366827|exon_6_167787839_167787939 . . 0/1:99:97,0,255 . 6 167787862 rs79258919 C A NON_SYNONYMOUS_CODING TCP10 MODERATE|MISSENSE|Gcc/Tcc|A256S|326|TCP10|protein_coding|CODING|ENST00000397829|exon_6_167787839_167787939 . . 0/1:99:97,0,255 . 6 167790110 rs201005141 C T NON_SYNONYMOUS_CODING TCP10 MODERATE|MISSENSE|cGt/cAt|R163H|207|TCP10|protein_coding|CODING|ENST00000460930|exon_6_167787379_167790192 . 0/1:15:83,0,12 . . 6 167790110 rs201005141 C T NON_SYNONYMOUS_CODING TCP10 MODERATE|MISSENSE|cGt/cAt|R167H|298|TCP10|protein_coding|CODING|ENST00000366827|exon_6_167790034_167790192 . 0/1:15:83,0,12 . . 6 167790110 rs201005141 C T NON_SYNONYMOUS_CODING TCP10 MODERATE|MISSENSE|cGt/cAt|R167H|326|TCP10|protein_coding|CODING|ENST00000397829|exon_6_167790034_167790192 . 0/1:15:83,0,12 . . 6 168708501 rs73789362 C A NON_SYNONYMOUS_CODING DACT2 MODERATE|MISSENSE|Ggc/Tgc|G646C|774|DACT2|protein_coding|CODING|ENST00000366795|exon_6_168707584_168709778 0/1:99:107,0,194 . . . 6 168708887 rs79931308 A G NON_SYNONYMOUS_CODING DACT2 MODERATE|MISSENSE|cTa/cCa|L517P|774|DACT2|protein_coding|CODING|ENST00000366795|exon_6_168707584_168709778 0/1:99:149,0,255 . . . 6 168709728 rs117378794 C T NON_SYNONYMOUS_CODING DACT2 MODERATE|MISSENSE|Gcg/Acg|A237T|774|DACT2|protein_coding|CODING|ENST00000366795|exon_6_168707584_168709778 0/1:99:193,0,164 . . . 6 170627586 rs6917485 G T NON_SYNONYMOUS_CODING FAM120B MODERATE|MISSENSE|Gat/Tat|D370Y|910|FAM120B|protein_coding|CODING|ENST00000476287|exon_6_170626458_170628212 0/1:99:179,0,255 . 0/1:99:255,0,255 . 6 170627586 rs6917485 G T NON_SYNONYMOUS_CODING FAM120B MODERATE|MISSENSE|Gat/Tat|D382Y|922|FAM120B|protein_coding|CODING|ENST00000540480|exon_6_170626458_170628212 0/1:99:179,0,255 . 0/1:99:255,0,255 . 6 170627586 rs6917485 G T NON_SYNONYMOUS_CODING FAM120B MODERATE|MISSENSE|Gat/Tat|D393Y|933|FAM120B|protein_coding|CODING|ENST00000537664|exon_6_170626458_170628212 0/1:99:179,0,255 . 0/1:99:255,0,255 . 6 170627614 rs6905356 T C NON_SYNONYMOUS_CODING FAM120B MODERATE|MISSENSE|aTg/aCg|M379T|910|FAM120B|protein_coding|CODING|ENST00000476287|exon_6_170626458_170628212 0/1:99:241,0,251 . 0/1:99:238,0,158 . 6 170627614 rs6905356 T C NON_SYNONYMOUS_CODING FAM120B MODERATE|MISSENSE|aTg/aCg|M391T|922|FAM120B|protein_coding|CODING|ENST00000540480|exon_6_170626458_170628212 0/1:99:241,0,251 . 0/1:99:238,0,158 . 6 170627614 rs6905356 T C NON_SYNONYMOUS_CODING FAM120B MODERATE|MISSENSE|aTg/aCg|M402T|933|FAM120B|protein_coding|CODING|ENST00000537664|exon_6_170626458_170628212 0/1:99:241,0,251 . 0/1:99:238,0,158 . 6 170627739 rs17860761 G C NON_SYNONYMOUS_CODING FAM120B MODERATE|MISSENSE|Gcc/Ccc|A421P|910|FAM120B|protein_coding|CODING|ENST00000476287|exon_6_170626458_170628212 0/1:99:111,0,255 . 0/1:99:108,0,255 . 6 170627739 rs17860761 G C NON_SYNONYMOUS_CODING FAM120B MODERATE|MISSENSE|Gcc/Ccc|A433P|922|FAM120B|protein_coding|CODING|ENST00000540480|exon_6_170626458_170628212 0/1:99:111,0,255 . 0/1:99:108,0,255 . 6 170627739 rs17860761 G C NON_SYNONYMOUS_CODING FAM120B MODERATE|MISSENSE|Gcc/Ccc|A444P|933|FAM120B|protein_coding|CODING|ENST00000537664|exon_6_170626458_170628212 0/1:99:111,0,255 . 0/1:99:108,0,255 . 6 170627761 rs6900199 A G NON_SYNONYMOUS_CODING FAM120B MODERATE|MISSENSE|tAt/tGt|Y428C|910|FAM120B|protein_coding|CODING|ENST00000476287|exon_6_170626458_170628212 0/1:99:178,0,214 . 0/1:99:236,0,222 . 6 170627761 rs6900199 A G NON_SYNONYMOUS_CODING FAM120B MODERATE|MISSENSE|tAt/tGt|Y440C|922|FAM120B|protein_coding|CODING|ENST00000540480|exon_6_170626458_170628212 0/1:99:178,0,214 . 0/1:99:236,0,222 . 6 170627761 rs6900199 A G NON_SYNONYMOUS_CODING FAM120B MODERATE|MISSENSE|tAt/tGt|Y451C|933|FAM120B|protein_coding|CODING|ENST00000537664|exon_6_170626458_170628212 0/1:99:178,0,214 . 0/1:99:236,0,222 . 6 170627797 rs9366138 A G NON_SYNONYMOUS_CODING FAM120B MODERATE|MISSENSE|tAt/tGt|Y440C|910|FAM120B|protein_coding|CODING|ENST00000476287|exon_6_170626458_170628212 0/1:99:237,0,198 . 0/1:99:223,0,211 . 6 170627797 rs9366138 A G NON_SYNONYMOUS_CODING FAM120B MODERATE|MISSENSE|tAt/tGt|Y452C|922|FAM120B|protein_coding|CODING|ENST00000540480|exon_6_170626458_170628212 0/1:99:237,0,198 . 0/1:99:223,0,211 . 6 170627797 rs9366138 A G NON_SYNONYMOUS_CODING FAM120B MODERATE|MISSENSE|tAt/tGt|Y463C|933|FAM120B|protein_coding|CODING|ENST00000537664|exon_6_170626458_170628212 0/1:99:237,0,198 . 0/1:99:223,0,211 . 6 170628009 rs9348266 T G NON_SYNONYMOUS_CODING FAM120B MODERATE|MISSENSE|Tgt/Ggt|C511G|910|FAM120B|protein_coding|CODING|ENST00000476287|exon_6_170626458_170628212 0/1:99:255,0,209 . 0/1:99:255,0,255 . 6 170628009 rs9348266 T G NON_SYNONYMOUS_CODING FAM120B MODERATE|MISSENSE|Tgt/Ggt|C523G|922|FAM120B|protein_coding|CODING|ENST00000540480|exon_6_170626458_170628212 0/1:99:255,0,209 . 0/1:99:255,0,255 . 6 170628009 rs9348266 T G NON_SYNONYMOUS_CODING FAM120B MODERATE|MISSENSE|Tgt/Ggt|C534G|933|FAM120B|protein_coding|CODING|ENST00000537664|exon_6_170626458_170628212 0/1:99:255,0,209 . 0/1:99:255,0,255 . 7 889169 rs74742245 A G NON_SYNONYMOUS_CODING SUN1 MODERATE|MISSENSE|tAc/tGc|Y121C|710|SUN1|protein_coding|CODING|ENST00000429178|exon_7_889157_889240 0/1:99:238,0,196 0/1:99:162,0,255 0/1:99:255,0,225 . 7 889169 rs74742245 A G NON_SYNONYMOUS_CODING SUN1 MODERATE|MISSENSE|tAc/tGc|Y348C|974|SUN1|protein_coding|CODING|ENST00000456758|exon_7_889157_889240 0/1:99:238,0,196 0/1:99:162,0,255 0/1:99:255,0,225 . 7 889169 rs74742245 A G NON_SYNONYMOUS_CODING SUN1 MODERATE|MISSENSE|tAc/tGc|Y38C|583|SUN1|protein_coding|CODING|ENST00000413514|exon_7_889157_889240 0/1:99:238,0,196 0/1:99:162,0,255 0/1:99:255,0,225 . 7 897496 rs59910530 G A NON_SYNONYMOUS_CODING SUN1 MODERATE|MISSENSE|Gag/Aag|E274K|583|SUN1|protein_coding|CODING|ENST00000413514|exon_7_897465_897594 0/1:99:214,0,215 0/1:99:182,0,255 0/1:99:230,0,255 . 7 897496 rs59910530 G A NON_SYNONYMOUS_CODING SUN1 MODERATE|MISSENSE|Gag/Aag|E373K|682|SUN1|protein_coding|CODING|ENST00000452783|exon_7_897465_897594 0/1:99:214,0,215 0/1:99:182,0,255 0/1:99:230,0,255 . 7 897496 rs59910530 G A NON_SYNONYMOUS_CODING SUN1 MODERATE|MISSENSE|Gag/Aag|E393K|702|SUN1|protein_coding|CODING|ENST00000389574|exon_7_897465_897594 0/1:99:214,0,215 0/1:99:182,0,255 0/1:99:230,0,255 . 7 897496 rs59910530 G A NON_SYNONYMOUS_CODING SUN1 MODERATE|MISSENSE|Gag/Aag|E393K|702|SUN1|protein_coding|CODING|ENST00000425407|exon_7_897465_897594 0/1:99:214,0,215 0/1:99:182,0,255 0/1:99:230,0,255 . 7 897496 rs59910530 G A NON_SYNONYMOUS_CODING SUN1 MODERATE|MISSENSE|Gag/Aag|E401K|710|SUN1|protein_coding|CODING|ENST00000429178|exon_7_897465_897594 0/1:99:214,0,215 0/1:99:182,0,255 0/1:99:230,0,255 . 7 897496 rs59910530 G A NON_SYNONYMOUS_CODING SUN1 MODERATE|MISSENSE|Gag/Aag|E476K|785|SUN1|protein_coding|CODING|ENST00000401592|exon_7_897465_897594 0/1:99:214,0,215 0/1:99:182,0,255 0/1:99:230,0,255 . 7 897496 rs59910530 G A NON_SYNONYMOUS_CODING SUN1 MODERATE|MISSENSE|Gag/Aag|E503K|812|SUN1|protein_coding|CODING|ENST00000297445|exon_7_897465_897594 0/1:99:214,0,215 0/1:99:182,0,255 0/1:99:230,0,255 . 7 897496 rs59910530 G A NON_SYNONYMOUS_CODING SUN1 MODERATE|MISSENSE|Gag/Aag|E513K|822|SUN1|protein_coding|CODING|ENST00000405266|exon_7_897465_897594 0/1:99:214,0,215 0/1:99:182,0,255 0/1:99:230,0,255 . 7 897496 rs59910530 G A NON_SYNONYMOUS_CODING SUN1 MODERATE|MISSENSE|Gag/Aag|E665K|974|SUN1|protein_coding|CODING|ENST00000456758|exon_7_897465_897594 0/1:99:214,0,215 0/1:99:182,0,255 0/1:99:230,0,255 . 7 995003 rs79805216 G C NON_SYNONYMOUS_CODING ADAP1 MODERATE|MISSENSE|cCt/cGt|P14R|385|ADAP1|protein_coding|CODING|ENST00000539900|exon_7_994929_995043 0/1:99:184,0,139 . . . 7 1028448 rs3808348 C T NON_SYNONYMOUS_CODING CYP2W1 MODERATE|MISSENSE|cCc/cTc|P488L|490|CYP2W1|protein_coding|CODING|ENST00000308919|exon_7_1028271_1029276 . . 0/1:31:118,0,28 0/1:99:113,0,158 7 1097183 rs11761941 G A NON_SYNONYMOUS_CODING GPR146 MODERATE|MISSENSE|gGg/gAg|G11E|314|GPR146|protein_coding|CODING|ENST00000444847|exon_7_1097128_1098097 0/1:99:143,0,201 . 0/1:99:159,0,196 . 7 1097183 rs11761941 G A NON_SYNONYMOUS_CODING GPR146 MODERATE|MISSENSE|gGg/gAg|G11E|333|GPR146|protein_coding|CODING|ENST00000297468|exon_7_1097141_1098897 0/1:99:143,0,201 . 0/1:99:159,0,196 . 7 1097183 rs11761941 G A NON_SYNONYMOUS_CODING GPR146 MODERATE|MISSENSE|gGg/gAg|G11E|333|GPR146|protein_coding|CODING|ENST00000397095|exon_7_1097128_1098894 0/1:99:143,0,201 . 0/1:99:159,0,196 . 7 1097183 rs11761941 G A NON_SYNONYMOUS_CODING GPR146 MODERATE|MISSENSE|gGg/gAg|G11E|37|GPR146|protein_coding|CODING|ENST00000427680|exon_7_1097128_1097267 0/1:99:143,0,201 . 0/1:99:159,0,196 . 7 1132691 rs1133041 C T NON_SYNONYMOUS_CODING GPER MODERATE|MISSENSE|Ctc/Ttc|L349F|408|GPER|protein_coding|CODING|ENST00000508834|exon_7_1132561_1133445 0/1:99:205,0,255 . . . 7 1132691 rs1133041 C T NON_SYNONYMOUS_CODING GPER MODERATE|MISSENSE|Ctc/Ttc|L40F|176|GPER|protein_coding|CODING|ENST00000342452|exon_7_1132574_1132825 0/1:99:205,0,255 . . . 7 1480285 rs118132501 C T NON_SYNONYMOUS_CODING MICALL2 MODERATE|MISSENSE|Ggg/Agg|G371R|692|MICALL2|protein_coding|CODING|ENST00000405088|exon_7_1480227_1480320 0/1:43:197,0,40 . 0/1:99:185,0,208 . 7 1480285 rs118132501 C T NON_SYNONYMOUS_CODING MICALL2 MODERATE|MISSENSE|Ggg/Agg|G583R|904|MICALL2|protein_coding|CODING|ENST00000297508|exon_7_1480227_1480320 0/1:43:197,0,40 . 0/1:99:185,0,208 . 7 1484556 rs202171352 C T NON_SYNONYMOUS_CODING MICALL2 MODERATE|MISSENSE|Gtg/Atg|V172M|692|MICALL2|protein_coding|CODING|ENST00000405088|exon_7_1484288_1484986 . . . 0/1:99:129,0,109 7 1484556 rs202171352 C T NON_SYNONYMOUS_CODING MICALL2 MODERATE|MISSENSE|Gtg/Atg|V384M|904|MICALL2|protein_coding|CODING|ENST00000297508|exon_7_1484288_1485064 . . . 0/1:99:129,0,109 7 1484852 rs189001253 G A NON_SYNONYMOUS_CODING MICALL2 MODERATE|MISSENSE|tCg/tTg|S285L|904|MICALL2|protein_coding|CODING|ENST00000297508|exon_7_1484288_1485064 0/1:99:223,0,219 . . . 7 1484852 rs189001253 G A NON_SYNONYMOUS_CODING MICALL2 MODERATE|MISSENSE|tCg/tTg|S73L|692|MICALL2|protein_coding|CODING|ENST00000405088|exon_7_1484288_1484986 0/1:99:223,0,219 . . . 7 1733182 rs79496824 C T NON_SYNONYMOUS_CODING AC074389.6.1 MODERATE|MISSENSE|cGt/cAt|R117H|194|AC074389.6.1|protein_coding|CODING|ENST00000382528|exon_7_1732446_1733721 0/1:99:143,0,164 . . . 7 1733192 rs56130225 C T NON_SYNONYMOUS_CODING AC074389.6.1 MODERATE|MISSENSE|Gtc/Atc|V114I|194|AC074389.6.1|protein_coding|CODING|ENST00000382528|exon_7_1732446_1733721 0/1:99:169,0,166 . . . 7 2472429 rs3735099 C A NON_SYNONYMOUS_CODING CHST12 MODERATE|MISSENSE|cCc/cAc|P52H|244|CHST12|protein_coding|CODING|ENST00000432336|exon_7_2472198_2473010 0/1:99:230,0,212 . . 0/1:99:176,0,173 7 2472429 rs3735099 C A NON_SYNONYMOUS_CODING CHST12 MODERATE|MISSENSE|cCc/cAc|P52H|414|CHST12|protein_coding|CODING|ENST00000258711|exon_7_2472198_2474242 0/1:99:230,0,212 . . 0/1:99:176,0,173 7 2472455 rs3735100 A T NON_SYNONYMOUS_CODING CHST12 MODERATE|MISSENSE|Acg/Tcg|T61S|244|CHST12|protein_coding|CODING|ENST00000432336|exon_7_2472198_2473010 0/1:99:222,0,170 . . 0/1:99:151,0,180 7 2472455 rs3735100 A T NON_SYNONYMOUS_CODING CHST12 MODERATE|MISSENSE|Acg/Tcg|T61S|414|CHST12|protein_coding|CODING|ENST00000258711|exon_7_2472198_2474242 0/1:99:222,0,170 . . 0/1:99:151,0,180 7 2578857 rs61740320 C T NON_SYNONYMOUS_CODING BRAT1 MODERATE|MISSENSE|Ggc/Agc|G576S|821|BRAT1|protein_coding|CODING|ENST00000340611|exon_7_2578813_2578985 . . . 0/1:99:227,0,156 7 4899815 . T C NON_SYNONYMOUS_CODING PAPOLB MODERATE|MISSENSE|Atg/Gtg|M542V|636|PAPOLB|protein_coding|CODING|ENST00000404991|exon_7_4897364_4901625 0/1:99:255,0,255 . . . 7 5112554 rs1130329 A C NON_SYNONYMOUS_CODING RBAK MODERATE|MISSENSE|gAg/gCg|E146A|243|RBAK|protein_coding|CODING|ENST00000407184|exon_7_5112553_5112852 0/1:99:198,0,168 0/1:99:245,0,208 0/1:99:228,0,106 . 7 5391702 rs3801048 C G NON_SYNONYMOUS_CODING TNRC18 MODERATE|MISSENSE|Gaa/Caa|E1740Q|2968|TNRC18|protein_coding|CODING|ENST00000399537|exon_7_5391450_5391725 0/1:99:255,0,223 . . . 7 5391702 rs3801048 C G NON_SYNONYMOUS_CODING TNRC18 MODERATE|MISSENSE|Gaa/Caa|E1740Q|2968|TNRC18|protein_coding|CODING|ENST00000430969|exon_7_5391450_5391725 0/1:99:255,0,223 . . . 7 5391702 rs3801048 C G NON_SYNONYMOUS_CODING TNRC18 MODERATE|MISSENSE|Gaa/Caa|E230Q|251|TNRC18|protein_coding|CODING|ENST00000440081|exon_7_5391633_5391725 0/1:99:255,0,223 . . . 7 5391702 rs3801048 C G NON_SYNONYMOUS_CODING TNRC18 MODERATE|MISSENSE|Gaa/Caa|E795Q|1312|TNRC18|protein_coding|CODING|ENST00000399544|exon_7_5391450_5391725 0/1:99:255,0,223 . . . 7 5530954 rs11975313 G A NON_SYNONYMOUS_CODING FBXL18 MODERATE|MISSENSE|Cat/Tat|H196Y|259|FBXL18|protein_coding|CODING|ENST00000297035|exon_7_5530862_5531080 . 0/1:99:250,0,198 . . 7 5959485 rs200812052 G A NON_SYNONYMOUS_CODING CCZ1 MODERATE|MISSENSE|Gtc/Atc|V189I|339|CCZ1|protein_coding|CODING|ENST00000537980|exon_7_5959480_5959597 0/1:54:51,0,132 . 0/1:57:54,0,146 . 7 5959485 rs200812052 G A NON_SYNONYMOUS_CODING CCZ1 MODERATE|MISSENSE|Gtc/Atc|V332I|482|CCZ1|protein_coding|CODING|ENST00000325974|exon_7_5959480_5959597 0/1:54:51,0,132 . 0/1:57:54,0,146 . 7 6045627 rs10254120 C T NON_SYNONYMOUS_CODING PMS2 MODERATE|MISSENSE|cGg/cAg|R20Q|461|PMS2|protein_coding|CODING|ENST00000382321|exon_7_6045523_6045662 0/1:99:255,0,255 0/1:99:212,0,213 . . 7 6045627 rs10254120 C T NON_SYNONYMOUS_CODING PMS2 MODERATE|MISSENSE|cGg/cAg|R20Q|572|PMS2|protein_coding|CODING|ENST00000406569|exon_7_6045523_6045662 0/1:99:255,0,255 0/1:99:212,0,213 . . 7 6045627 rs10254120 C T NON_SYNONYMOUS_CODING PMS2 MODERATE|MISSENSE|cGg/cAg|R20Q|862|PMS2|protein_coding|CODING|ENST00000265849|exon_7_6045523_6045662 0/1:99:255,0,255 0/1:99:212,0,213 . . 7 6080686 rs34909691 A T NON_SYNONYMOUS_CODING EIF2AK1 MODERATE|MISSENSE|cTt/cAt|L195H|577|EIF2AK1|protein_coding|CODING|ENST00000536084|exon_7_6080523_6080850 0/1:99:224,0,255 . . . 7 6080686 rs34909691 A T NON_SYNONYMOUS_CODING EIF2AK1 MODERATE|MISSENSE|cTt/cAt|L319H|630|EIF2AK1|protein_coding|CODING|ENST00000199389|exon_7_6080523_6080850 0/1:99:224,0,255 . . . 7 6476104 rs117103601 G A NON_SYNONYMOUS_CODING DAGLB MODERATE|MISSENSE|gCg/gTg|A103V|148|DAGLB|protein_coding|CODING|ENST00000432248|exon_7_6475993_6476164 0/1:99:225,0,234 . . . 7 6476104 rs117103601 G A NON_SYNONYMOUS_CODING DAGLB MODERATE|MISSENSE|gCg/gTg|A103V|267|DAGLB|protein_coding|CODING|ENST00000471132|exon_7_6475993_6476164 0/1:99:225,0,234 . . . 7 6476104 rs117103601 G A NON_SYNONYMOUS_CODING DAGLB MODERATE|MISSENSE|gCg/gTg|A103V|543|DAGLB|protein_coding|CODING|ENST00000425398|exon_7_6475993_6476164 0/1:99:225,0,234 . . . 7 6476104 rs117103601 G A NON_SYNONYMOUS_CODING DAGLB MODERATE|MISSENSE|gCg/gTg|A103V|672|DAGLB|protein_coding|CODING|ENST00000297056|exon_7_6475993_6476164 0/1:99:225,0,234 . . . 7 6476104 rs117103601 G A NON_SYNONYMOUS_CODING DAGLB MODERATE|MISSENSE|gCg/gTg|A62V|631|DAGLB|protein_coding|CODING|ENST00000436575|exon_7_6475993_6476164 0/1:99:225,0,234 . . . 7 6590670 rs9690195 C T NON_SYNONYMOUS_CODING GRID2IP MODERATE|MISSENSE|cGc/cAc|R133H|1211|GRID2IP|protein_coding|CODING|ENST00000457091|exon_7_6590639_6591067 . . . 0/1:77:84,0,74 7 6591009 rs11761490 C T NON_SYNONYMOUS_CODING GRID2IP MODERATE|MISSENSE|cGg/cAg|R20Q|1211|GRID2IP|protein_coding|CODING|ENST00000457091|exon_7_6590639_6591067 . . 0/1:99:169,0,131 0/1:99:212,0,100 7 6713431 . A G NON_SYNONYMOUS_CODING AC073343.1 MODERATE|MISSENSE|aAg/aGg|K3R|388|AC073343.1|protein_coding|CODING|ENST00000401847|exon_7_6713424_6713456 . . 0/1:99:255,0,245 . 7 6713431 . A G NON_SYNONYMOUS_CODING AC073343.1 MODERATE|MISSENSE|aAg/aGg|K3R|389|AC073343.1|protein_coding|CODING|ENST00000544825|exon_7_6713424_6713456 . . 0/1:99:255,0,245 . 7 6859453 rs145992513 C G NON_SYNONYMOUS_CODING CCZ1B MODERATE|MISSENSE|gaG/gaC|E214D|482|CCZ1B|protein_coding|CODING|ENST00000316731|exon_7_6859397_6859572 0/1:99:164,0,242 . 0/1:99:144,0,186 0/1:58:55,0,189 7 6859453 rs145992513 C G NON_SYNONYMOUS_CODING CCZ1B MODERATE|MISSENSE|gaG/gaC|E71D|339|CCZ1B|protein_coding|CODING|ENST00000538180|exon_7_6859397_6859572 0/1:99:164,0,242 . 0/1:99:144,0,186 0/1:58:55,0,189 7 11500372 rs118134876 C T NON_SYNONYMOUS_CODING THSD7A MODERATE|MISSENSE|cGc/cAc|R841H|1657|THSD7A|protein_coding|CODING|ENST00000262042|exon_7_11500289_11500392 . . 0/1:99:246,0,255 . 7 11500372 rs118134876 C T NON_SYNONYMOUS_CODING THSD7A MODERATE|MISSENSE|cGc/cAc|R841H|1657|THSD7A|protein_coding|CODING|ENST00000423059|exon_7_11500289_11500392 . . 0/1:99:246,0,255 . 7 12433390 rs139605380 G A NON_SYNONYMOUS_CODING VWDE MODERATE|MISSENSE|Cct/Tct|P25S|1590|VWDE|protein_coding|CODING|ENST00000275358|exon_7_12433220_12433404 . . 0/1:99:255,0,255 . 7 12433390 rs139605380 G A NON_SYNONYMOUS_CODING VWDE MODERATE|MISSENSE|Cct/Tct|P25S|170|VWDE|protein_coding|CODING|ENST00000541006|exon_7_12433220_12433404 . . 0/1:99:255,0,255 . 7 12675690 rs35385652 G A NON_SYNONYMOUS_CODING SCIN MODERATE|MISSENSE|cGa/cAa|R200Q|468|SCIN|protein_coding|CODING|ENST00000445618|exon_7_12675670_12675760 0/1:99:255,0,179 . . . 7 12675690 rs35385652 G A NON_SYNONYMOUS_CODING SCIN MODERATE|MISSENSE|cGa/cAa|R200Q|468|SCIN|protein_coding|CODING|ENST00000519209|exon_7_12675670_12675760 0/1:99:255,0,179 . . . 7 12675690 rs35385652 G A NON_SYNONYMOUS_CODING SCIN MODERATE|MISSENSE|cGa/cAa|R447Q|715|SCIN|protein_coding|CODING|ENST00000297029|exon_7_12675670_12675760 0/1:99:255,0,179 . . . 7 12675713 rs17166250 T C NON_SYNONYMOUS_CODING SCIN MODERATE|MISSENSE|Ttc/Ctc|F208L|468|SCIN|protein_coding|CODING|ENST00000445618|exon_7_12675670_12675760 0/1:99:255,0,217 . . . 7 12675713 rs17166250 T C NON_SYNONYMOUS_CODING SCIN MODERATE|MISSENSE|Ttc/Ctc|F208L|468|SCIN|protein_coding|CODING|ENST00000519209|exon_7_12675670_12675760 0/1:99:255,0,217 . . . 7 12675713 rs17166250 T C NON_SYNONYMOUS_CODING SCIN MODERATE|MISSENSE|Ttc/Ctc|F455L|715|SCIN|protein_coding|CODING|ENST00000297029|exon_7_12675670_12675760 0/1:99:255,0,217 . . . 7 16129089 . T C NON_SYNONYMOUS_CODING AC006035.2 MODERATE|MISSENSE|Tat/Cat|Y104H|161|AC006035.2|protein_coding|CODING|ENST00000444738|exon_7_16128780_16129265 0/1:99:255,0,189 . . . 7 16129165 rs28463725 T G NON_SYNONYMOUS_CODING AC006035.2 MODERATE|MISSENSE|aTa/aGa|I129R|161|AC006035.2|protein_coding|CODING|ENST00000444738|exon_7_16128780_16129265 0/1:99:179,0,255 . . . 7 16129171 rs28569130 T G NON_SYNONYMOUS_CODING AC006035.2 MODERATE|MISSENSE|gTa/gGa|V131G|161|AC006035.2|protein_coding|CODING|ENST00000444738|exon_7_16128780_16129265 0/1:99:172,0,255 . . . 7 19184732 rs74366495 C A NON_SYNONYMOUS_CODING FERD3L MODERATE|MISSENSE|gGt/gTt|G85V|166|FERD3L|protein_coding|CODING|ENST00000275461|exon_7_19184405_19185044 0/1:99:216,0,197 . . . 7 21469640 rs150133134 C G NON_SYNONYMOUS_CODING SP4 MODERATE|MISSENSE|cCt/cGt|P286R|784|SP4|protein_coding|CODING|ENST00000222584|exon_7_21468907_21470461 . . 0/1:99:171,0,255 . 7 21934511 rs72658825 G A NON_SYNONYMOUS_CODING DNAH11 MODERATE|MISSENSE|Gca/Aca|A4322T|4523|DNAH11|protein_coding|CODING|ENST00000328843|exon_7_21934502_21934617 . . 0/1:99:255,0,255 . 7 22532321 rs192189247 T C NON_SYNONYMOUS_CODING STEAP1B MODERATE|MISSENSE|Att/Gtt|I190V|245|STEAP1B|protein_coding|CODING|ENST00000406890|exon_7_22532184_22532348 . . 0/1:99:221,0,227 . 7 22532321 rs192189247 T C NON_SYNONYMOUS_CODING STEAP1B MODERATE|MISSENSE|Att/Gtt|I209V|215|STEAP1B|protein_coding|CODING|ENST00000439708|exon_7_22532296_22532348 . . 0/1:99:221,0,227 . 7 22532321 rs192189247 T C NON_SYNONYMOUS_CODING STEAP1B MODERATE|MISSENSE|Att/Gtt|I209V|253|STEAP1B|protein_coding|CODING|ENST00000424363|exon_7_22532184_22532348 . . 0/1:99:221,0,227 . 7 22532321 rs192189247 T C NON_SYNONYMOUS_CODING STEAP1B MODERATE|MISSENSE|Att/Gtt|I209V|342|STEAP1B|protein_coding|CODING|ENST00000404369|exon_7_22532184_22532348 . . 0/1:99:221,0,227 . 7 22532971 rs186888506 T A NON_SYNONYMOUS_CODING STEAP1B MODERATE|MISSENSE|tAc/tTc|Y171F|245|STEAP1B|protein_coding|CODING|ENST00000406890|exon_7_22532943_22533398 . 0/1:99:255,0,255 . . 7 22532971 rs186888506 T A NON_SYNONYMOUS_CODING STEAP1B MODERATE|MISSENSE|tAc/tTc|Y190F|215|STEAP1B|protein_coding|CODING|ENST00000439708|exon_7_22532943_22533455 . 0/1:99:255,0,255 . . 7 22532971 rs186888506 T A NON_SYNONYMOUS_CODING STEAP1B MODERATE|MISSENSE|tAc/tTc|Y190F|253|STEAP1B|protein_coding|CODING|ENST00000424363|exon_7_22532943_22533455 . 0/1:99:255,0,255 . . 7 22532971 rs186888506 T A NON_SYNONYMOUS_CODING STEAP1B MODERATE|MISSENSE|tAc/tTc|Y190F|342|STEAP1B|protein_coding|CODING|ENST00000404369|exon_7_22532943_22533455 . 0/1:99:255,0,255 . . 7 23221797 . ACGGCAGCAACCGC ACGGCAGCAACCGCGGCAGCAACCGC CODON_CHANGE_PLUS_CODON_INSERTION NUPL2 MODERATE||cag/cGGCAGCAACCGCag|Q36RQQPQ|155|NUPL2|protein_coding|CODING|ENST00000410002|exon_7_23221657_23221825 . 0/1:99:118,0,255 . 0/1:99:106,0,190 7 23221797 . ACGGCAGCAACCGC ACGGCAGCAACCGCGGCAGCAACCGC CODON_CHANGE_PLUS_CODON_INSERTION NUPL2 MODERATE||cag/cGGCAGCAACCGCag|Q36RQQPQ|423|NUPL2|protein_coding|CODING|ENST00000258742|exon_7_23221446_23221825 . 0/1:99:118,0,255 . 0/1:99:106,0,190 7 23221797 . ACGGCAGCAACCGC ACGGCAGCAACCGCGGCAGCAACCGC CODON_CHANGE_PLUS_CODON_INSERTION NUPL2 MODERATE||cag/cGGCAGCAACCGCag|Q36RQQPQ|434|NUPL2|protein_coding|CODING|ENST00000413919|exon_7_23221683_23221825 . 0/1:99:118,0,255 . 0/1:99:106,0,190 7 23775454 rs10264952 G A NON_SYNONYMOUS_CODING STK31 MODERATE|MISSENSE|Gag/Aag|E238K|996|STK31|protein_coding|CODING|ENST00000354639|exon_7_23775157_23775515 0/1:99:241,0,255 . . . 7 23775454 rs10264952 G A NON_SYNONYMOUS_CODING STK31 MODERATE|MISSENSE|Gag/Aag|E238K|996|STK31|protein_coding|CODING|ENST00000428484|exon_7_23775157_23775515 0/1:99:241,0,255 . . . 7 23775454 rs10264952 G A NON_SYNONYMOUS_CODING STK31 MODERATE|MISSENSE|Gag/Aag|E261K|1019|STK31|protein_coding|CODING|ENST00000355870|exon_7_23775157_23775515 0/1:99:241,0,255 . . . 7 23775454 rs10264952 G A NON_SYNONYMOUS_CODING STK31 MODERATE|MISSENSE|Gag/Aag|E261K|996|STK31|protein_coding|CODING|ENST00000433467|exon_7_23775157_23775515 0/1:99:241,0,255 . . . 7 23775477 rs10264967 G T NON_SYNONYMOUS_CODING STK31 MODERATE|MISSENSE|aaG/aaT|K245N|996|STK31|protein_coding|CODING|ENST00000354639|exon_7_23775157_23775515 0/1:99:255,0,255 . . . 7 23775477 rs10264967 G T NON_SYNONYMOUS_CODING STK31 MODERATE|MISSENSE|aaG/aaT|K245N|996|STK31|protein_coding|CODING|ENST00000428484|exon_7_23775157_23775515 0/1:99:255,0,255 . . . 7 23775477 rs10264967 G T NON_SYNONYMOUS_CODING STK31 MODERATE|MISSENSE|aaG/aaT|K268N|1019|STK31|protein_coding|CODING|ENST00000355870|exon_7_23775157_23775515 0/1:99:255,0,255 . . . 7 23775477 rs10264967 G T NON_SYNONYMOUS_CODING STK31 MODERATE|MISSENSE|aaG/aaT|K268N|996|STK31|protein_coding|CODING|ENST00000433467|exon_7_23775157_23775515 0/1:99:255,0,255 . . . 7 23811795 rs10263079 T G NON_SYNONYMOUS_CODING STK31 MODERATE|MISSENSE|aaT/aaG|N598K|996|STK31|protein_coding|CODING|ENST00000354639|exon_7_23811766_23811897 0/1:99:255,0,255 . . . 7 23811795 rs10263079 T G NON_SYNONYMOUS_CODING STK31 MODERATE|MISSENSE|aaT/aaG|N598K|996|STK31|protein_coding|CODING|ENST00000428484|exon_7_23811766_23811897 0/1:99:255,0,255 . . . 7 23811795 rs10263079 T G NON_SYNONYMOUS_CODING STK31 MODERATE|MISSENSE|aaT/aaG|N621K|1019|STK31|protein_coding|CODING|ENST00000355870|exon_7_23811766_23811897 0/1:99:255,0,255 . . . 7 23811795 rs10263079 T G NON_SYNONYMOUS_CODING STK31 MODERATE|MISSENSE|aaT/aaG|N621K|996|STK31|protein_coding|CODING|ENST00000433467|exon_7_23811766_23811897 0/1:99:255,0,255 . . . 7 25182405 rs11984293 G T NON_SYNONYMOUS_CODING C7orf31 MODERATE|MISSENSE|cCa/cAa|P238Q|590|C7orf31|protein_coding|CODING|ENST00000283905|exon_7_25182259_25182433 . . 0/1:99:255,0,255 . 7 25182405 rs11984293 G T NON_SYNONYMOUS_CODING C7orf31 MODERATE|MISSENSE|cCa/cAa|P238Q|590|C7orf31|protein_coding|CODING|ENST00000409280|exon_7_25182259_25182433 . . 0/1:99:255,0,255 . 7 25207963 rs3213642 G A NON_SYNONYMOUS_CODING C7orf31 MODERATE|MISSENSE|Cgt/Tgt|R86C|114|C7orf31|protein_coding|CODING|ENST00000415598|exon_7_25207908_25208084 . . 0/1:99:229,0,216 . 7 25207963 rs3213642 G A NON_SYNONYMOUS_CODING C7orf31 MODERATE|MISSENSE|Cgt/Tgt|R86C|152|C7orf31|protein_coding|CODING|ENST00000443822|exon_7_25207908_25208084 . . 0/1:99:229,0,216 . 7 25207963 rs3213642 G A NON_SYNONYMOUS_CODING C7orf31 MODERATE|MISSENSE|Cgt/Tgt|R86C|590|C7orf31|protein_coding|CODING|ENST00000283905|exon_7_25207908_25208084 . . 0/1:99:229,0,216 . 7 25207963 rs3213642 G A NON_SYNONYMOUS_CODING C7orf31 MODERATE|MISSENSE|Cgt/Tgt|R86C|590|C7orf31|protein_coding|CODING|ENST00000409280|exon_7_25207908_25208084 . . 0/1:99:229,0,216 . 7 25207963 rs3213642 G A NON_SYNONYMOUS_CODING C7orf31 MODERATE|MISSENSE|Cgt/Tgt|R86C|91|C7orf31|protein_coding|CODING|ENST00000444434|exon_7_25207941_25208084 . . 0/1:99:229,0,216 . 7 25207974 rs2717858 T C NON_SYNONYMOUS_CODING C7orf31 MODERATE|MISSENSE|tAt/tGt|Y82C|114|C7orf31|protein_coding|CODING|ENST00000415598|exon_7_25207908_25208084 . . 0/1:99:191,0,229 . 7 25207974 rs2717858 T C NON_SYNONYMOUS_CODING C7orf31 MODERATE|MISSENSE|tAt/tGt|Y82C|152|C7orf31|protein_coding|CODING|ENST00000443822|exon_7_25207908_25208084 . . 0/1:99:191,0,229 . 7 25207974 rs2717858 T C NON_SYNONYMOUS_CODING C7orf31 MODERATE|MISSENSE|tAt/tGt|Y82C|590|C7orf31|protein_coding|CODING|ENST00000283905|exon_7_25207908_25208084 . . 0/1:99:191,0,229 . 7 25207974 rs2717858 T C NON_SYNONYMOUS_CODING C7orf31 MODERATE|MISSENSE|tAt/tGt|Y82C|590|C7orf31|protein_coding|CODING|ENST00000409280|exon_7_25207908_25208084 . . 0/1:99:191,0,229 . 7 25207974 rs2717858 T C NON_SYNONYMOUS_CODING C7orf31 MODERATE|MISSENSE|tAt/tGt|Y82C|91|C7orf31|protein_coding|CODING|ENST00000444434|exon_7_25207941_25208084 . . 0/1:99:191,0,229 . 7 29152426 rs138216401 C T NON_SYNONYMOUS_CODING CPVL MODERATE|MISSENSE|aGt/aAt|S61N|476|CPVL|protein_coding|CODING|ENST00000265394|exon_7_29152320_29152438 0/1:99:255,0,180 . . . 7 29152426 rs138216401 C T NON_SYNONYMOUS_CODING CPVL MODERATE|MISSENSE|aGt/aAt|S61N|476|CPVL|protein_coding|CODING|ENST00000396276|exon_7_29152320_29152438 0/1:99:255,0,180 . . . 7 29152426 rs138216401 C T NON_SYNONYMOUS_CODING CPVL MODERATE|MISSENSE|aGt/aAt|S61N|476|CPVL|protein_coding|CODING|ENST00000409850|exon_7_29152320_29152438 0/1:99:255,0,180 . . . 7 29160664 rs147204083 A G NON_SYNONYMOUS_CODING CPVL MODERATE|MISSENSE|aTg/aCg|M5T|42|CPVL|protein_coding|CODING|ENST00000455544|exon_7_29160547_29160687 . 0/1:99:255,0,255 . . 7 29160664 rs147204083 A G NON_SYNONYMOUS_CODING CPVL MODERATE|MISSENSE|aTg/aCg|M5T|476|CPVL|protein_coding|CODING|ENST00000265394|exon_7_29160509_29160687 . 0/1:99:255,0,255 . . 7 29160664 rs147204083 A G NON_SYNONYMOUS_CODING CPVL MODERATE|MISSENSE|aTg/aCg|M5T|476|CPVL|protein_coding|CODING|ENST00000396276|exon_7_29160509_29160687 . 0/1:99:255,0,255 . . 7 29160664 rs147204083 A G NON_SYNONYMOUS_CODING CPVL MODERATE|MISSENSE|aTg/aCg|M5T|476|CPVL|protein_coding|CODING|ENST00000409850|exon_7_29160509_29160687 . 0/1:99:255,0,255 . . 7 29160664 rs147204083 A G NON_SYNONYMOUS_CODING CPVL MODERATE|MISSENSE|aTg/aCg|M5T|51|CPVL|protein_coding|CODING|ENST00000449801|exon_7_29160521_29160687 . 0/1:99:255,0,255 . . 7 29160664 rs147204083 A G NON_SYNONYMOUS_CODING CPVL MODERATE|MISSENSE|aTg/aCg|M5T|5|CPVL|protein_coding|CODING|ENST00000437527|exon_7_29160658_29160687 . 0/1:99:255,0,255 . . 7 29606288 rs10271996 C T NON_SYNONYMOUS_CODING PRR15 MODERATE|MISSENSE|Ccg/Tcg|P115S|129|PRR15|protein_coding|CODING|ENST00000319694|exon_7_29605801_29606911 1/1:99:255,69,0 . 1/1:99:255,60,0 0/1:99:201,0,208 7 29606316 rs112093295 C A NON_SYNONYMOUS_CODING PRR15 MODERATE|MISSENSE|cCc/cAc|P124H|129|PRR15|protein_coding|CODING|ENST00000319694|exon_7_29605801_29606911 . 0/1:99:191,0,157 . . 7 29994945 rs75604334 C G NON_SYNONYMOUS_CODING SCRN1 MODERATE|MISSENSE|aGg/aCg|R64T|140|SCRN1|protein_coding|CODING|ENST00000409570|exon_7_29994795_29994976 . . 0/1:99:255,0,250 . 7 29994945 rs75604334 C G NON_SYNONYMOUS_CODING SCRN1 MODERATE|MISSENSE|aGg/aCg|R64T|140|SCRN1|protein_coding|CODING|ENST00000438497|exon_7_29994795_29994976 . . 0/1:99:255,0,250 . 7 29994945 rs75604334 C G NON_SYNONYMOUS_CODING SCRN1 MODERATE|MISSENSE|aGg/aCg|R64T|244|SCRN1|protein_coding|CODING|ENST00000421434|exon_7_29994795_29994976 . . 0/1:99:255,0,250 . 7 29994945 rs75604334 C G NON_SYNONYMOUS_CODING SCRN1 MODERATE|MISSENSE|aGg/aCg|R64T|414|SCRN1|protein_coding|CODING|ENST00000242059|exon_7_29994795_29994976 . . 0/1:99:255,0,250 . 7 29994945 rs75604334 C G NON_SYNONYMOUS_CODING SCRN1 MODERATE|MISSENSE|aGg/aCg|R64T|414|SCRN1|protein_coding|CODING|ENST00000409497|exon_7_29994795_29994976 . . 0/1:99:255,0,250 . 7 29994945 rs75604334 C G NON_SYNONYMOUS_CODING SCRN1 MODERATE|MISSENSE|aGg/aCg|R64T|414|SCRN1|protein_coding|CODING|ENST00000426154|exon_7_29994795_29994976 . . 0/1:99:255,0,250 . 7 29994945 rs75604334 C G NON_SYNONYMOUS_CODING SCRN1 MODERATE|MISSENSE|aGg/aCg|R84T|434|SCRN1|protein_coding|CODING|ENST00000434476|exon_7_29994795_29994976 . . 0/1:99:255,0,250 . 7 30831181 rs12672119 C T NON_SYNONYMOUS_CODING FAM188B MODERATE|MISSENSE|gCa/gTa|A355V|757|FAM188B|protein_coding|CODING|ENST00000265299|exon_7_30830781_30831190 0/1:99:214,0,195 . . . 7 31617680 . G A NON_SYNONYMOUS_CODING CCDC129 MODERATE|MISSENSE|Gat/Aat|D176N|952|CCDC129|protein_coding|CODING|ENST00000409210|exon_7_31617477_31618048 . 0/1:99:255,0,255 . . 7 31617680 . G A NON_SYNONYMOUS_CODING CCDC129 MODERATE|MISSENSE|Gat/Aat|D268N|1044|CCDC129|protein_coding|CODING|ENST00000407970|exon_7_31617477_31618048 . 0/1:99:255,0,255 . . 7 31617680 . G A NON_SYNONYMOUS_CODING CCDC129 MODERATE|MISSENSE|Gat/Aat|D278N|1054|CCDC129|protein_coding|CODING|ENST00000538406|exon_7_31617477_31618048 . 0/1:99:255,0,255 . . 7 31617680 . G A NON_SYNONYMOUS_CODING CCDC129 MODERATE|MISSENSE|Gat/Aat|D294N|1062|CCDC129|protein_coding|CODING|ENST00000451887|exon_7_31617477_31618048 . 0/1:99:255,0,255 . . 7 31855625 rs61736729 C G NON_SYNONYMOUS_CODING PDE1C MODERATE|MISSENSE|Gtc/Ctc|V576L|634|PDE1C|protein_coding|CODING|ENST00000396182|exon_7_31855538_31855768 . . 0/1:99:255,0,255 . 7 31855625 rs61736729 C G NON_SYNONYMOUS_CODING PDE1C MODERATE|MISSENSE|Gtc/Ctc|V576L|634|PDE1C|protein_coding|CODING|ENST00000396184|exon_7_31855538_31855768 . . 0/1:99:255,0,255 . 7 31855625 rs61736729 C G NON_SYNONYMOUS_CODING PDE1C MODERATE|MISSENSE|Gtc/Ctc|V576L|709|PDE1C|protein_coding|CODING|ENST00000321453|exon_7_31855538_31855768 . . 0/1:99:255,0,255 . 7 31855625 rs61736729 C G NON_SYNONYMOUS_CODING PDE1C MODERATE|MISSENSE|Gtc/Ctc|V576L|709|PDE1C|protein_coding|CODING|ENST00000396191|exon_7_31855538_31855768 . . 0/1:99:255,0,255 . 7 31855625 rs61736729 C G NON_SYNONYMOUS_CODING PDE1C MODERATE|MISSENSE|Gtc/Ctc|V636L|769|PDE1C|protein_coding|CODING|ENST00000396193|exon_7_31855538_31855768 . . 0/1:99:255,0,255 . 7 36552656 rs7986 G A NON_SYNONYMOUS_CODING AOAH MODERATE|MISSENSE|cCg/cTg|P682L|686|AOAH|protein_coding|CODING|ENST00000544647|exon_7_36552640_36552732 . . . 0/1:99:255,0,255 7 36552707 rs199759128 T A NON_SYNONYMOUS_CODING AOAH MODERATE|MISSENSE|cAt/cTt|H665L|686|AOAH|protein_coding|CODING|ENST00000544647|exon_7_36552640_36552732 . . 0/1:99:255,0,255 0/1:99:255,0,132 7 37923923 rs62001870 T C NON_SYNONYMOUS_CODING TXNDC3 MODERATE|MISSENSE|aTt/aCt|I338T|588|TXNDC3|protein_coding|CODING|ENST00000199447|exon_7_37923905_37924049 0/1:99:255,0,255 . . . 7 37923923 rs62001870 T C NON_SYNONYMOUS_CODING TXNDC3 MODERATE|MISSENSE|aTt/aCt|I338T|588|TXNDC3|protein_coding|CODING|ENST00000440017|exon_7_37923905_37924049 0/1:99:255,0,255 . . . 7 39504235 rs149617494 A C NON_SYNONYMOUS_CODING POU6F2 MODERATE|MISSENSE|Acg/Ccg|T621P|636|POU6F2|protein_coding|CODING|ENST00000559001|exon_7_39503781_39504680 . . . 0/1:99:243,0,252 7 39504235 rs149617494 A C NON_SYNONYMOUS_CODING POU6F2 MODERATE|MISSENSE|Acg/Ccg|T640P|655|POU6F2|protein_coding|CODING|ENST00000518318|exon_7_39503889_39508200 . . . 0/1:99:243,0,252 7 39504235 rs149617494 A C NON_SYNONYMOUS_CODING POU6F2 MODERATE|MISSENSE|Acg/Ccg|T676P|691|POU6F2|protein_coding|CODING|ENST00000403058|exon_7_39503781_39504390 . . . 0/1:99:243,0,252 7 40257113 . C T NON_SYNONYMOUS_CODING C7orf10 MODERATE|MISSENSE|aCt/aTt|T201I|202|C7orf10|protein_coding|CODING|ENST00000540834|exon_7_40256996_40257727 0/1:99:255,0,231 . . . 7 42212210 rs76999720 C T NON_SYNONYMOUS_CODING GLI3 MODERATE|MISSENSE|tGc/tAc|C67Y|96|GLI3|protein_coding|CODING|ENST00000437480|exon_7_42212090_42212285 . 0/1:99:228,0,240 . . 7 43484275 rs61756576 G C NON_SYNONYMOUS_CODING HECW1 MODERATE|MISSENSE|Gag/Cag|E502Q|1572|HECW1|protein_coding|CODING|ENST00000453890|exon_7_43483817_43485169 . 0/1:99:241,0,255 . . 7 43484275 rs61756576 G C NON_SYNONYMOUS_CODING HECW1 MODERATE|MISSENSE|Gag/Cag|E502Q|1606|HECW1|protein_coding|CODING|ENST00000265522|exon_7_43483814_43485169 . 0/1:99:241,0,255 . . 7 43484275 rs61756576 G C NON_SYNONYMOUS_CODING HECW1 MODERATE|MISSENSE|Gag/Cag|E502Q|1606|HECW1|protein_coding|CODING|ENST00000395891|exon_7_43483817_43485169 . 0/1:99:241,0,255 . . 7 43916784 rs61732518 C A NON_SYNONYMOUS_CODING URGCP MODERATE|MISSENSE|Gcc/Tcc|A717S|888|URGCP|protein_coding|CODING|ENST00000223341|exon_7_43915505_43918859 . . 0/1:99:219,0,210 . 7 43916784 rs61732518 C A NON_SYNONYMOUS_CODING URGCP MODERATE|MISSENSE|Gcc/Tcc|A717S|888|URGCP|protein_coding|CODING|ENST00000336086|exon_7_43915512_43918859 . . 0/1:99:219,0,210 . 7 43916784 rs61732518 C A NON_SYNONYMOUS_CODING URGCP MODERATE|MISSENSE|Gcc/Tcc|A717S|888|URGCP|protein_coding|CODING|ENST00000443736|exon_7_43915512_43918859 . . 0/1:99:219,0,210 . 7 43916784 rs61732518 C A NON_SYNONYMOUS_CODING URGCP MODERATE|MISSENSE|Gcc/Tcc|A717S|888|URGCP|protein_coding|CODING|ENST00000447717|exon_7_43916042_43918859 . . 0/1:99:219,0,210 . 7 43916784 rs61732518 C A NON_SYNONYMOUS_CODING URGCP MODERATE|MISSENSE|Gcc/Tcc|A751S|922|URGCP|protein_coding|CODING|ENST00000402306|exon_7_43915512_43918859 . . 0/1:99:219,0,210 . 7 43916784 rs61732518 C A NON_SYNONYMOUS_CODING URGCP MODERATE|MISSENSE|Gcc/Tcc|A760S|931|URGCP|protein_coding|CODING|ENST00000453200|exon_7_43915514_43918859 . . 0/1:99:219,0,210 . 7 44555699 rs52815063 A T NON_SYNONYMOUS_CODING NPC1L1 MODERATE|MISSENSE|aTc/aAc|I1160N|1286|NPC1L1|protein_coding|CODING|ENST00000546276|exon_7_44555683_44555796 . . 0/1:99:247,0,167 . 7 44555699 rs52815063 A T NON_SYNONYMOUS_CODING NPC1L1 MODERATE|MISSENSE|aTc/aAc|I1206N|1332|NPC1L1|protein_coding|CODING|ENST00000381160|exon_7_44555683_44555796 . . 0/1:99:247,0,167 . 7 44555699 rs52815063 A T NON_SYNONYMOUS_CODING NPC1L1 MODERATE|MISSENSE|aTc/aAc|I1233N|1359|NPC1L1|protein_coding|CODING|ENST00000289547|exon_7_44555683_44555796 . . 0/1:99:247,0,167 . 7 45104131 rs11552377 G A NON_SYNONYMOUS_CODING CCM2 MODERATE|MISSENSE|Gtc/Atc|V114I|347|CCM2|protein_coding|CODING|ENST00000474617|exon_7_45104062_45104245 . . 0/1:99:255,0,199 0/1:99:255,0,137 7 45104131 rs11552377 G A NON_SYNONYMOUS_CODING CCM2 MODERATE|MISSENSE|Gtc/Atc|V114I|438|CCM2|protein_coding|CODING|ENST00000475551|exon_7_45104062_45104245 . . 0/1:99:255,0,199 0/1:99:255,0,137 7 45104131 rs11552377 G A NON_SYNONYMOUS_CODING CCM2 MODERATE|MISSENSE|Gtc/Atc|V120I|353|CCM2|protein_coding|CODING|ENST00000544363|exon_7_45104062_45104245 . . 0/1:99:255,0,199 0/1:99:255,0,137 7 45104131 rs11552377 G A NON_SYNONYMOUS_CODING CCM2 MODERATE|MISSENSE|Gtc/Atc|V120I|444|CCM2|protein_coding|CODING|ENST00000258781|exon_7_45104062_45104245 . . 0/1:99:255,0,199 0/1:99:255,0,137 7 45104131 rs11552377 G A NON_SYNONYMOUS_CODING CCM2 MODERATE|MISSENSE|Gtc/Atc|V141I|465|CCM2|protein_coding|CODING|ENST00000381112|exon_7_45104062_45104245 . . 0/1:99:255,0,199 0/1:99:255,0,137 7 45104131 rs11552377 G A NON_SYNONYMOUS_CODING CCM2 MODERATE|MISSENSE|Gtc/Atc|V62I|386|CCM2|protein_coding|CODING|ENST00000541586|exon_7_45104062_45104245 . . 0/1:99:255,0,199 0/1:99:255,0,137 7 45122324 rs3735493 C A NON_SYNONYMOUS_CODING NACAD MODERATE|MISSENSE|tGc/tTc|C1152F|1562|NACAD|protein_coding|CODING|ENST00000490531|exon_7_45121707_45125711 . . 0/1:99:253,0,183 0/1:99:160,0,230 7 45123090 rs10276748 G A NON_SYNONYMOUS_CODING NACAD MODERATE|MISSENSE|Cca/Tca|P897S|1562|NACAD|protein_coding|CODING|ENST00000490531|exon_7_45121707_45125711 . . 1/1:21:62,12,0 . 7 45123857 rs7790844 A G NON_SYNONYMOUS_CODING NACAD MODERATE|MISSENSE|gTt/gCt|V641A|1562|NACAD|protein_coding|CODING|ENST00000490531|exon_7_45121707_45125711 0/1:41:53,0,38 . . . 7 45753418 rs76737937 G A NON_SYNONYMOUS_CODING ADCY1 MODERATE|MISSENSE|Ggc/Agc|G1062S|1119|ADCY1|protein_coding|CODING|ENST00000297323|exon_7_45753292_45762715 . 0/1:99:220,0,255 . . 7 47323416 rs202189855 C T NON_SYNONYMOUS_CODING TNS3 MODERATE|MISSENSE|Ggc/Agc|G1086S|1205|TNS3|protein_coding|CODING|ENST00000355730|exon_7_47323295_47323463 . . . 0/1:99:255,0,212 7 47323416 rs202189855 C T NON_SYNONYMOUS_CODING TNS3 MODERATE|MISSENSE|Ggc/Agc|G1326S|1445|TNS3|protein_coding|CODING|ENST00000311160|exon_7_47323295_47323463 . . . 0/1:99:255,0,212 7 47323416 rs202189855 C T NON_SYNONYMOUS_CODING TNS3 MODERATE|MISSENSE|Ggc/Agc|G1326S|1445|TNS3|protein_coding|CODING|ENST00000398879|exon_7_47323295_47323463 . . . 0/1:99:255,0,212 7 47323416 rs202189855 C T NON_SYNONYMOUS_CODING TNS3 MODERATE|MISSENSE|Ggc/Agc|G782S|919|TNS3|protein_coding|CODING|ENST00000545849|exon_7_47323295_47323463 . . . 0/1:99:255,0,212 7 47331594 rs41280696 G A NON_SYNONYMOUS_CODING TNS3 MODERATE|MISSENSE|aCg/aTg|T1056M|1205|TNS3|protein_coding|CODING|ENST00000355730|exon_7_47331553_47331630 . . 0/1:99:255,0,205 . 7 47331594 rs41280696 G A NON_SYNONYMOUS_CODING TNS3 MODERATE|MISSENSE|aCg/aTg|T1296M|1445|TNS3|protein_coding|CODING|ENST00000311160|exon_7_47331553_47331630 . . 0/1:99:255,0,205 . 7 47331594 rs41280696 G A NON_SYNONYMOUS_CODING TNS3 MODERATE|MISSENSE|aCg/aTg|T1296M|1445|TNS3|protein_coding|CODING|ENST00000398879|exon_7_47331553_47331630 . . 0/1:99:255,0,205 . 7 47331594 rs41280696 G A NON_SYNONYMOUS_CODING TNS3 MODERATE|MISSENSE|aCg/aTg|T752M|919|TNS3|protein_coding|CODING|ENST00000545849|exon_7_47331553_47331630 . . 0/1:99:255,0,205 . 7 47342556 rs199534852 G A NON_SYNONYMOUS_CODING TNS3 MODERATE|MISSENSE|cCt/cTt|P1150L|1445|TNS3|protein_coding|CODING|ENST00000311160|exon_7_47342548_47343182 . . . 0/1:99:140,0,255 7 47342556 rs199534852 G A NON_SYNONYMOUS_CODING TNS3 MODERATE|MISSENSE|cCt/cTt|P1150L|1445|TNS3|protein_coding|CODING|ENST00000398879|exon_7_47342548_47343182 . . . 0/1:99:140,0,255 7 47342556 rs199534852 G A NON_SYNONYMOUS_CODING TNS3 MODERATE|MISSENSE|cCt/cTt|P606L|919|TNS3|protein_coding|CODING|ENST00000545849|exon_7_47342548_47343182 . . . 0/1:99:140,0,255 7 47342556 rs199534852 G A NON_SYNONYMOUS_CODING TNS3 MODERATE|MISSENSE|cCt/cTt|P910L|1205|TNS3|protein_coding|CODING|ENST00000355730|exon_7_47342548_47343182 . . . 0/1:99:140,0,255 7 47342790 rs181932240 G A NON_SYNONYMOUS_CODING TNS3 MODERATE|MISSENSE|aCg/aTg|T1072M|1445|TNS3|protein_coding|CODING|ENST00000311160|exon_7_47342548_47343182 . 0/1:99:255,0,170 . . 7 47342790 rs181932240 G A NON_SYNONYMOUS_CODING TNS3 MODERATE|MISSENSE|aCg/aTg|T1072M|1445|TNS3|protein_coding|CODING|ENST00000398879|exon_7_47342548_47343182 . 0/1:99:255,0,170 . . 7 47342790 rs181932240 G A NON_SYNONYMOUS_CODING TNS3 MODERATE|MISSENSE|aCg/aTg|T1175M|1248|TNS3|protein_coding|CODING|ENST00000457718|exon_7_47342565_47343182 . 0/1:99:255,0,170 . . 7 47342790 rs181932240 G A NON_SYNONYMOUS_CODING TNS3 MODERATE|MISSENSE|aCg/aTg|T1182M|1271|TNS3|protein_coding|CODING|ENST00000538633|exon_7_47342567_47343182 . 0/1:99:255,0,170 . . 7 47342790 rs181932240 G A NON_SYNONYMOUS_CODING TNS3 MODERATE|MISSENSE|aCg/aTg|T528M|919|TNS3|protein_coding|CODING|ENST00000545849|exon_7_47342548_47343182 . 0/1:99:255,0,170 . . 7 47342790 rs181932240 G A NON_SYNONYMOUS_CODING TNS3 MODERATE|MISSENSE|aCg/aTg|T832M|1205|TNS3|protein_coding|CODING|ENST00000355730|exon_7_47342548_47343182 . 0/1:99:255,0,170 . . 7 47409161 rs180802444 C T NON_SYNONYMOUS_CODING TNS3 MODERATE|MISSENSE|aGc/aAc|S361N|1445|TNS3|protein_coding|CODING|ENST00000311160|exon_7_47407962_47409218 0/1:99:188,0,255 . . . 7 47409161 rs180802444 C T NON_SYNONYMOUS_CODING TNS3 MODERATE|MISSENSE|aGc/aAc|S361N|1445|TNS3|protein_coding|CODING|ENST00000398879|exon_7_47407962_47409218 0/1:99:188,0,255 . . . 7 47409161 rs180802444 C T NON_SYNONYMOUS_CODING TNS3 MODERATE|MISSENSE|aGc/aAc|S450N|543|TNS3|protein_coding|CODING|ENST00000450444|exon_7_47408878_47409218 0/1:99:188,0,255 . . . 7 47409161 rs180802444 C T NON_SYNONYMOUS_CODING TNS3 MODERATE|MISSENSE|aGc/aAc|S464N|1248|TNS3|protein_coding|CODING|ENST00000457718|exon_7_47407962_47409218 0/1:99:188,0,255 . . . 7 47409161 rs180802444 C T NON_SYNONYMOUS_CODING TNS3 MODERATE|MISSENSE|aGc/aAc|S471N|1271|TNS3|protein_coding|CODING|ENST00000538633|exon_7_47407962_47409218 0/1:99:188,0,255 . . . 7 47481628 rs16881490 C T NON_SYNONYMOUS_CODING TNS3 MODERATE|MISSENSE|aGt/aAt|S100N|113|TNS3|protein_coding|CODING|ENST00000434451|exon_7_47481601_47481653 . . . 0/1:99:224,0,187 7 47481628 rs16881490 C T NON_SYNONYMOUS_CODING TNS3 MODERATE|MISSENSE|aGt/aAt|S73N|543|TNS3|protein_coding|CODING|ENST00000450444|exon_7_47481601_47481653 . . . 0/1:99:224,0,187 7 47481628 rs16881490 C T NON_SYNONYMOUS_CODING TNS3 MODERATE|MISSENSE|aGt/aAt|S87N|1248|TNS3|protein_coding|CODING|ENST00000457718|exon_7_47481601_47481653 . . . 0/1:99:224,0,187 7 47481628 rs16881490 C T NON_SYNONYMOUS_CODING TNS3 MODERATE|MISSENSE|aGt/aAt|S94N|1271|TNS3|protein_coding|CODING|ENST00000538633|exon_7_47481601_47481653 . . . 0/1:99:224,0,187 7 47840310 rs146576726 C G NON_SYNONYMOUS_CODING PKD1L1 MODERATE|MISSENSE|caG/caC|Q2710H|2849|PKD1L1|protein_coding|CODING|ENST00000289672|exon_7_47840247_47840477 0/1:99:237,0,255 . . . 7 47913560 rs78833972 G T NON_SYNONYMOUS_CODING PKD1L1 MODERATE|MISSENSE|cCg/cAg|P1278Q|2849|PKD1L1|protein_coding|CODING|ENST00000289672|exon_7_47913497_47913608 0/1:99:108,0,255 . . 0/1:99:178,0,220 7 48089487 rs61749572 C T NON_SYNONYMOUS_CODING C7orf57 MODERATE|MISSENSE|cCg/cTg|P173L|295|C7orf57|protein_coding|CODING|ENST00000348904|exon_7_48089477_48089574 . . . 0/1:99:211,0,230 7 48089487 rs61749572 C T NON_SYNONYMOUS_CODING C7orf57 MODERATE|MISSENSE|cCg/cTg|P173L|295|C7orf57|protein_coding|CODING|ENST00000539619|exon_7_48089477_48089574 . . . 0/1:99:211,0,230 7 48089487 rs61749572 C T NON_SYNONYMOUS_CODING C7orf57 MODERATE|MISSENSE|cCg/cTg|P218L|324|C7orf57|protein_coding|CODING|ENST00000420324|exon_7_48089477_48089574 . . . 0/1:99:211,0,230 7 48089487 rs61749572 C T NON_SYNONYMOUS_CODING C7orf57 MODERATE|MISSENSE|cCg/cTg|P218L|340|C7orf57|protein_coding|CODING|ENST00000430738|exon_7_48089477_48089574 . . . 0/1:99:211,0,230 7 48089487 rs61749572 C T NON_SYNONYMOUS_CODING C7orf57 MODERATE|MISSENSE|cCg/cTg|P51L|153|C7orf57|protein_coding|CODING|ENST00000435376|exon_7_48089477_48089574 . . . 0/1:99:211,0,230 7 48315360 rs17661364 A G NON_SYNONYMOUS_CODING ABCA13 MODERATE|MISSENSE|Aat/Gat|N2033D|5058|ABCA13|protein_coding|CODING|ENST00000435803|exon_7_48311384_48316162 0/1:99:251,0,255 . . . 7 48412084 rs143050255 A T NON_SYNONYMOUS_CODING ABCA13 MODERATE|MISSENSE|cAg/cTg|Q3708L|5058|ABCA13|protein_coding|CODING|ENST00000435803|exon_7_48411765_48412094 0/1:99:142,0,242 . . . 7 48428715 rs17132289 A T NON_SYNONYMOUS_CODING ABCA13 MODERATE|MISSENSE|tAt/tTt|Y3851F|5058|ABCA13|protein_coding|CODING|ENST00000435803|exon_7_48428637_48428817 0/1:99:225,0,255 0/1:99:255,0,255 . . 7 51094344 . C G NON_SYNONYMOUS_CODING COBL MODERATE|MISSENSE|Gag/Cag|E1020Q|1146|COBL|protein_coding|CODING|ENST00000431948|exon_7_51094243_51094362 . . . 0/1:99:231,0,255 7 51094344 . C G NON_SYNONYMOUS_CODING COBL MODERATE|MISSENSE|Gag/Cag|E1027Q|1106|COBL|protein_coding|CODING|ENST00000445054|exon_7_51094243_51094362 . . . 0/1:99:231,0,255 7 51094344 . C G NON_SYNONYMOUS_CODING COBL MODERATE|MISSENSE|Gag/Cag|E1135Q|1261|COBL|protein_coding|CODING|ENST00000265136|exon_7_51094243_51094362 . . . 0/1:99:231,0,255 7 51094344 . C G NON_SYNONYMOUS_CODING COBL MODERATE|MISSENSE|Gag/Cag|E1217Q|1343|COBL|protein_coding|CODING|ENST00000395542|exon_7_51094243_51094362 . . . 0/1:99:231,0,255 7 55902230 rs146004414 T C NON_SYNONYMOUS_CODING SEPT14 MODERATE|MISSENSE|gAt/gGt|D203G|432|SEPT14|protein_coding|CODING|ENST00000388975|exon_7_55902118_55902279 . 0/1:99:255,0,255 . . 7 56155388 rs148807750 A G NON_SYNONYMOUS_CODING PHKG1 MODERATE|MISSENSE|Tgg/Cgg|W20R|333|PHKG1|protein_coding|CODING|ENST00000537360|exon_7_56155291_56155469 . . 0/1:99:227,0,255 . 7 63726993 rs10949885 G A NON_SYNONYMOUS_CODING ZNF679 MODERATE|MISSENSE|Gaa/Aaa|E328K|411|ZNF679|protein_coding|CODING|ENST00000255746|exon_7_63726274_63727300 . 1/1:99:255,87,0 . 0/1:99:255,0,255 7 63726993 rs10949885 G A NON_SYNONYMOUS_CODING ZNF679 MODERATE|MISSENSE|Gaa/Aaa|E328K|411|ZNF679|protein_coding|CODING|ENST00000421025|exon_7_63726274_63727309 . 1/1:99:255,87,0 . 0/1:99:255,0,255 7 63981559 rs17852813 T C NON_SYNONYMOUS_CODING ZNF680 MODERATE|MISSENSE|Aat/Gat|N525D|530|ZNF680|protein_coding|CODING|ENST00000309683|exon_7_63980262_63982878 . . 0/1:99:255,0,255 . 7 66648120 rs147474467 G A NON_SYNONYMOUS_CODING TYW1 MODERATE|MISSENSE|cGa/cAa|R569Q|732|TYW1|protein_coding|CODING|ENST00000359626|exon_7_66648113_66648223 . 0/1:99:255,0,255 . . 7 72395679 rs143666868 C A NON_SYNONYMOUS_CODING POM121 MODERATE|MISSENSE|gCg/gAg|A7E|1249|POM121|protein_coding|CODING|ENST00000434423|exon_7_72395660_72396303 . . 0/1:99:149,0,227 . 7 72413423 rs71554686 C T NON_SYNONYMOUS_CODING POM121 MODERATE|MISSENSE|cCg/cTg|P699L|984|POM121|protein_coding|CODING|ENST00000257622|exon_7_72412376_72414061 . . . 0/1:67:64,0,105 7 72413423 rs71554686 C T NON_SYNONYMOUS_CODING POM121 MODERATE|MISSENSE|cCg/cTg|P699L|984|POM121|protein_coding|CODING|ENST00000358357|exon_7_72412376_72414061 . . . 0/1:67:64,0,105 7 72413423 rs71554686 C T NON_SYNONYMOUS_CODING POM121 MODERATE|MISSENSE|cCg/cTg|P699L|999|POM121|protein_coding|CODING|ENST00000395270|exon_7_72412376_72414061 . . . 0/1:67:64,0,105 7 72413423 rs71554686 C T NON_SYNONYMOUS_CODING POM121 MODERATE|MISSENSE|cCg/cTg|P699L|999|POM121|protein_coding|CODING|ENST00000446813|exon_7_72412376_72414061 . . . 0/1:67:64,0,105 7 72413423 rs71554686 C T NON_SYNONYMOUS_CODING POM121 MODERATE|MISSENSE|cCg/cTg|P964L|1249|POM121|protein_coding|CODING|ENST00000434423|exon_7_72412376_72414061 . . . 0/1:67:64,0,105 7 72738679 . C A NON_SYNONYMOUS_CODING TRIM50 MODERATE|MISSENSE|tGc/tTc|C36F|487|TRIM50|protein_coding|CODING|ENST00000333149|exon_7_72738387_72738803 . 0/1:99:242,0,213 . . 7 72738679 . C A NON_SYNONYMOUS_CODING TRIM50 MODERATE|MISSENSE|tGc/tTc|C36F|487|TRIM50|protein_coding|CODING|ENST00000453152|exon_7_72738387_72738803 . 0/1:99:242,0,213 . . 7 73279413 rs118088869 C T NON_SYNONYMOUS_CODING WBSCR28 MODERATE|MISSENSE|Cgg/Tgg|R55W|265|WBSCR28|protein_coding|CODING|ENST00000320531|exon_7_73279323_73279751 0/1:99:128,0,253 . . . 7 73631177 rs144269935 C G NON_SYNONYMOUS_CODING LAT2 MODERATE|MISSENSE|atC/atG|I39M|243|LAT2|protein_coding|CODING|ENST00000275635|exon_7_73631155_73631194 . 0/1:99:255,0,190 . . 7 73631177 rs144269935 C G NON_SYNONYMOUS_CODING LAT2 MODERATE|MISSENSE|atC/atG|I39M|243|LAT2|protein_coding|CODING|ENST00000344995|exon_7_73631155_73631194 . 0/1:99:255,0,190 . . 7 73631177 rs144269935 C G NON_SYNONYMOUS_CODING LAT2 MODERATE|MISSENSE|atC/atG|I39M|243|LAT2|protein_coding|CODING|ENST00000398475|exon_7_73631155_73631194 . 0/1:99:255,0,190 . . 7 73631177 rs144269935 C G NON_SYNONYMOUS_CODING LAT2 MODERATE|MISSENSE|atC/atG|I39M|243|LAT2|protein_coding|CODING|ENST00000460943|exon_7_73631155_73631194 . 0/1:99:255,0,190 . . 7 73631177 rs144269935 C G NON_SYNONYMOUS_CODING LAT2 MODERATE|MISSENSE|atC/atG|I39M|57|LAT2|protein_coding|CODING|ENST00000465116|exon_7_73631155_73631194 . 0/1:99:255,0,190 . . 7 73631177 rs144269935 C G NON_SYNONYMOUS_CODING LAT2 MODERATE|MISSENSE|atC/atG|I39M|62|LAT2|protein_coding|CODING|ENST00000361082|exon_7_73631155_73631194 . 0/1:99:255,0,190 . . 7 73631177 rs144269935 C G NON_SYNONYMOUS_CODING LAT2 MODERATE|MISSENSE|atC/atG|I39M|99|LAT2|protein_coding|CODING|ENST00000475494|exon_7_73631155_73631194 . 0/1:99:255,0,190 . . 7 74159167 rs201985028 G C NON_SYNONYMOUS_CODING GTF2I MODERATE|MISSENSE|ttG/ttC|L566F|957|GTF2I|protein_coding|CODING|ENST00000416070|exon_7_74159097_74159280 0/1:67:64,0,133 . . . 7 74159167 rs201985028 G C NON_SYNONYMOUS_CODING GTF2I MODERATE|MISSENSE|ttG/ttC|L586F|977|GTF2I|protein_coding|CODING|ENST00000346152|exon_7_74159097_74159280 0/1:67:64,0,133 . . . 7 74159167 rs201985028 G C NON_SYNONYMOUS_CODING GTF2I MODERATE|MISSENSE|ttG/ttC|L587F|978|GTF2I|protein_coding|CODING|ENST00000353920|exon_7_74159097_74159280 0/1:67:64,0,133 . . . 7 74159167 rs201985028 G C NON_SYNONYMOUS_CODING GTF2I MODERATE|MISSENSE|ttG/ttC|L602F|993|GTF2I|protein_coding|CODING|ENST00000539339|exon_7_74159097_74159280 0/1:67:64,0,133 . . . 7 74159167 rs201985028 G C NON_SYNONYMOUS_CODING GTF2I MODERATE|MISSENSE|ttG/ttC|L607F|998|GTF2I|protein_coding|CODING|ENST00000324896|exon_7_74159097_74159280 0/1:67:64,0,133 . . . 7 74212036 rs707394 C G NON_SYNONYMOUS_CODING GTF2IRD2 MODERATE|MISSENSE|aaG/aaC|K152N|496|GTF2IRD2|protein_coding|CODING|ENST00000451013|exon_7_74210490_74212604 . . 0/1:99:189,0,159 . 7 74212036 rs707394 C G NON_SYNONYMOUS_CODING GTF2IRD2 MODERATE|MISSENSE|aaG/aaC|K605N|949|GTF2IRD2|protein_coding|CODING|ENST00000405086|exon_7_74210483_74212604 . . 0/1:99:189,0,159 . 7 75028272 rs149273533 T A NON_SYNONYMOUS_CODING TRIM73 MODERATE|MISSENSE|Tgc/Agc|C19S|249|TRIM73|protein_coding|CODING|ENST00000447409|exon_7_75028200_75028616 . . . 0/1:69:66,0,169 7 75028272 rs149273533 T A NON_SYNONYMOUS_CODING TRIM73 MODERATE|MISSENSE|Tgc/Agc|C19S|250|TRIM73|protein_coding|CODING|ENST00000323819|exon_7_75028200_75028616 . . . 0/1:69:66,0,169 7 75028272 rs149273533 T A NON_SYNONYMOUS_CODING TRIM73 MODERATE|MISSENSE|Tgc/Agc|C19S|250|TRIM73|protein_coding|CODING|ENST00000437796|exon_7_75028199_75028616 . . . 0/1:69:66,0,169 7 75028272 rs149273533 T A NON_SYNONYMOUS_CODING TRIM73 MODERATE|MISSENSE|Tgc/Agc|C19S|282|TRIM73|protein_coding|CODING|ENST00000430211|exon_7_75028200_75028616 . . . 0/1:69:66,0,169 7 75050891 rs146536842 T C NON_SYNONYMOUS_CODING POM121C MODERATE|MISSENSE|Aca/Gca|T1124A|1229|POM121C|protein_coding|CODING|ENST00000257665|exon_7_75050792_75052486 . . . 0/1:33:91,0,30 7 75050891 rs146536842 T C NON_SYNONYMOUS_CODING POM121C MODERATE|MISSENSE|Aca/Gca|T882A|987|POM121C|protein_coding|CODING|ENST00000453279|exon_7_75050792_75052486 . . . 0/1:33:91,0,30 7 75051419 rs201211942 C T NON_SYNONYMOUS_CODING POM121C MODERATE|MISSENSE|Gca/Aca|A706T|987|POM121C|protein_coding|CODING|ENST00000453279|exon_7_75050792_75052486 0/1:9:98,0,6 . . . 7 75051419 rs201211942 C T NON_SYNONYMOUS_CODING POM121C MODERATE|MISSENSE|Gca/Aca|A948T|1229|POM121C|protein_coding|CODING|ENST00000257665|exon_7_75050792_75052486 0/1:9:98,0,6 . . . 7 75053476 rs145345427 G T NON_SYNONYMOUS_CODING POM121C MODERATE|MISSENSE|Cct/Act|P302T|987|POM121C|protein_coding|CODING|ENST00000453279|exon_7_75053332_75053508 . . . 0/1:99:221,0,245 7 75053476 rs145345427 G T NON_SYNONYMOUS_CODING POM121C MODERATE|MISSENSE|Cct/Act|P544T|1229|POM121C|protein_coding|CODING|ENST00000257665|exon_7_75053332_75053508 . . . 0/1:99:221,0,245 7 75053499 rs113744930 G A NON_SYNONYMOUS_CODING POM121C MODERATE|MISSENSE|tCg/tTg|S294L|987|POM121C|protein_coding|CODING|ENST00000453279|exon_7_75053332_75053508 . . 0/1:99:185,0,160 . 7 75053499 rs113744930 G A NON_SYNONYMOUS_CODING POM121C MODERATE|MISSENSE|tCg/tTg|S536L|1229|POM121C|protein_coding|CODING|ENST00000257665|exon_7_75053332_75053508 . . 0/1:99:185,0,160 . 7 75182802 rs117129747 C T NON_SYNONYMOUS_CODING HIP1 MODERATE|MISSENSE|Gac/Aac|D749N|1037|HIP1|protein_coding|CODING|ENST00000336926|exon_7_75182752_75182888 . . . 0/1:99:243,0,170 7 75182802 rs117129747 C T NON_SYNONYMOUS_CODING HIP1 MODERATE|MISSENSE|Gac/Aac|D749N|986|HIP1|protein_coding|CODING|ENST00000434438|exon_7_75182752_75182888 . . . 0/1:99:243,0,170 7 75508359 rs186561790 C T NON_SYNONYMOUS_CODING RHBDD2 MODERATE|MISSENSE|Cgg/Tgg|R32W|434|RHBDD2|protein_coding|CODING|ENST00000413229|exon_7_75508266_75508578 . . . 0/1:99:199,0,118 7 75615147 . G A NON_SYNONYMOUS_CODING POR MODERATE|MISSENSE|cGg/cAg|R288Q|418|POR|protein_coding|CODING|ENST00000439269|exon_7_75614897_75615167 0/1:99:233,0,199 . . . 7 75615147 . G A NON_SYNONYMOUS_CODING POR MODERATE|MISSENSE|cGg/cAg|R358Q|488|POR|protein_coding|CODING|ENST00000545601|exon_7_75614897_75615167 0/1:99:233,0,199 . . . 7 75615147 . G A NON_SYNONYMOUS_CODING POR MODERATE|MISSENSE|cGg/cAg|R449Q|573|POR|protein_coding|CODING|ENST00000450476|exon_7_75614897_75615167 0/1:99:233,0,199 . . . 7 75615147 . G A NON_SYNONYMOUS_CODING POR MODERATE|MISSENSE|cGg/cAg|R550Q|633|POR|protein_coding|CODING|ENST00000394893|exon_7_75614897_75615167 0/1:99:233,0,199 . . . 7 75615147 . G A NON_SYNONYMOUS_CODING POR MODERATE|MISSENSE|cGg/cAg|R550Q|680|POR|protein_coding|CODING|ENST00000461988|exon_7_75614897_75615167 0/1:99:233,0,199 . . . 7 76054372 rs2286428 G A NON_SYNONYMOUS_CODING ZP3 MODERATE|MISSENSE|Gga/Aga|G31R|371|ZP3|protein_coding|CODING|ENST00000544121|exon_7_76054282_76054593 . 0/1:99:192,0,154 . 1/1:99:255,51,0 7 76054372 rs2286428 G A NON_SYNONYMOUS_CODING ZP3 MODERATE|MISSENSE|Gga/Aga|G31R|424|ZP3|protein_coding|CODING|ENST00000394857|exon_7_76054224_76054593 . 0/1:99:192,0,154 . 1/1:99:255,51,0 7 76111938 rs12534498 G A NON_SYNONYMOUS_CODING DTX2.1 MODERATE|MISSENSE|Gtc/Atc|V128I|139|DTX2.1|protein_coding|CODING|ENST00000423646|exon_7_76111825_76111976 . 0/1:99:248,0,207 . . 7 76111938 rs12534498 G A NON_SYNONYMOUS_CODING DTX2.1 MODERATE|MISSENSE|Gtc/Atc|V128I|575|DTX2.1|protein_coding|CODING|ENST00000307569|exon_7_76111825_76112464 . 0/1:99:248,0,207 . . 7 76111938 rs12534498 G A NON_SYNONYMOUS_CODING DTX2.1 MODERATE|MISSENSE|Gtc/Atc|V128I|575|DTX2.1|protein_coding|CODING|ENST00000446820|exon_7_76111825_76112464 . 0/1:99:248,0,207 . . 7 76111938 rs12534498 G A NON_SYNONYMOUS_CODING DTX2.1 MODERATE|MISSENSE|Gtc/Atc|V128I|622|DTX2.1|protein_coding|CODING|ENST00000324432|exon_7_76111825_76112464 . 0/1:99:248,0,207 . . 7 76111938 rs12534498 G A NON_SYNONYMOUS_CODING DTX2.1 MODERATE|MISSENSE|Gtc/Atc|V128I|622|DTX2.1|protein_coding|CODING|ENST00000413936|exon_7_76111825_76112464 . 0/1:99:248,0,207 . . 7 76111938 rs12534498 G A NON_SYNONYMOUS_CODING DTX2.1 MODERATE|MISSENSE|Gtc/Atc|V128I|622|DTX2.1|protein_coding|CODING|ENST00000430490|exon_7_76111825_76112464 . 0/1:99:248,0,207 . . 7 76111938 rs12534498 G A NON_SYNONYMOUS_CODING DTX2.1 MODERATE|MISSENSE|Gtc/Atc|V37I|531|DTX2.1|protein_coding|CODING|ENST00000446600|exon_7_76111825_76112464 . 0/1:99:248,0,207 . . 7 76111938 rs12534498 G A NON_SYNONYMOUS_CODING DTX2.1 MODERATE|MISSENSE|Gtc/Atc|V37I|561|DTX2.1|protein_coding|CODING|ENST00000541989|exon_7_76111825_76112464 . 0/1:99:248,0,207 . . 7 76144456 rs137995680 G A NON_SYNONYMOUS_CODING UPK3B MODERATE|MISSENSE|Gag/Aag|E256K|276|UPK3B|protein_coding|CODING|ENST00000334348|exon_7_76144362_76144773 . . . 0/1:99:164,0,99 7 76144456 rs137995680 G A NON_SYNONYMOUS_CODING UPK3B MODERATE|MISSENSE|Gag/Aag|E256K|276|UPK3B|protein_coding|CODING|ENST00000443097|exon_7_76144362_76144773 . . . 0/1:99:164,0,99 7 76144456 rs137995680 G A NON_SYNONYMOUS_CODING UPK3B MODERATE|MISSENSE|aGa/aAa|R229K|265|UPK3B|protein_coding|CODING|ENST00000394849|exon_7_76144362_76144773 . . . 0/1:99:164,0,99 7 76144456 rs137995680 G A NON_SYNONYMOUS_CODING UPK3B MODERATE|MISSENSE|aGa/aAa|R284K|320|UPK3B|protein_coding|CODING|ENST00000257632|exon_7_76144362_76144773 . . . 0/1:99:164,0,99 7 76144456 rs137995680 G A NON_SYNONYMOUS_CODING UPK3B MODERATE|MISSENSE|aGa/aAa|R284K|320|UPK3B|protein_coding|CODING|ENST00000419923|exon_7_76144362_76144773 . . . 0/1:99:164,0,99 7 76144456 rs137995680 G A NON_SYNONYMOUS_CODING UPK3B MODERATE|MISSENSE|aGa/aAa|R284K|320|UPK3B|protein_coding|CODING|ENST00000448265|exon_7_76144362_76144773 . . . 0/1:99:164,0,99 7 76828552 . A T NON_SYNONYMOUS_CODING FGL2 MODERATE|MISSENSE|Ttg/Atg|L187M|439|FGL2|protein_coding|CODING|ENST00000248598|exon_7_76828498_76829143 0/1:99:255,0,253 . . . 7 76950699 rs17151692 C T NON_SYNONYMOUS_CODING PION MODERATE|MISSENSE|Gta/Ata|V102I|187|PION|protein_coding|CODING|ENST00000415112|exon_7_76950650_76950720 0/1:99:255,0,255 0/1:99:149,0,255 . 0/1:99:255,0,255 7 76950699 rs17151692 C T NON_SYNONYMOUS_CODING PION MODERATE|MISSENSE|Gta/Ata|V649I|854|PION|protein_coding|CODING|ENST00000257626|exon_7_76950650_76950720 0/1:99:255,0,255 0/1:99:149,0,255 . 0/1:99:255,0,255 7 77265140 rs2230602 G A NON_SYNONYMOUS_CODING PTPN12 MODERATE|MISSENSE|Gaa/Aaa|E188K|233|PTPN12|protein_coding|CODING|ENST00000407343|exon_7_77265099_77265166 0/1:99:255,0,255 . . . 7 77265140 rs2230602 G A NON_SYNONYMOUS_CODING PTPN12 MODERATE|MISSENSE|Gaa/Aaa|E576K|650|PTPN12|protein_coding|CODING|ENST00000435495|exon_7_77265099_77265166 0/1:99:255,0,255 . . . 7 77265140 rs2230602 G A NON_SYNONYMOUS_CODING PTPN12 MODERATE|MISSENSE|Gaa/Aaa|E587K|661|PTPN12|protein_coding|CODING|ENST00000415482|exon_7_77265099_77265166 0/1:99:255,0,255 . . . 7 77265140 rs2230602 G A NON_SYNONYMOUS_CODING PTPN12 MODERATE|MISSENSE|Gaa/Aaa|E706K|780|PTPN12|protein_coding|CODING|ENST00000248594|exon_7_77265099_77265166 0/1:99:255,0,255 . . . 7 77885502 . T G NON_SYNONYMOUS_CODING MAGI2 MODERATE|MISSENSE|gAa/gCa|E434A|550|MAGI2|protein_coding|CODING|ENST00000536571|exon_7_77885087_77885898 . 0/1:99:246,0,216 . . 7 77885502 . T G NON_SYNONYMOUS_CODING MAGI2 MODERATE|MISSENSE|gAa/gCa|E439A|555|MAGI2|protein_coding|CODING|ENST00000535697|exon_7_77885106_77885898 . 0/1:99:246,0,216 . . 7 77885502 . T G NON_SYNONYMOUS_CODING MAGI2 MODERATE|MISSENSE|gAa/gCa|E602A|1253|MAGI2|protein_coding|CODING|ENST00000536298|exon_7_77885260_77885898 . 0/1:99:246,0,216 . . 7 77885502 . T G NON_SYNONYMOUS_CODING MAGI2 MODERATE|MISSENSE|gAa/gCa|E602A|1283|MAGI2|protein_coding|CODING|ENST00000522391|exon_7_77885260_77885898 . 0/1:99:246,0,216 . . 7 77885502 . T G NON_SYNONYMOUS_CODING MAGI2 MODERATE|MISSENSE|gAa/gCa|E602A|1441|MAGI2|protein_coding|CODING|ENST00000419488|exon_7_77885260_77885898 . 0/1:99:246,0,216 . . 7 77885502 . T G NON_SYNONYMOUS_CODING MAGI2 MODERATE|MISSENSE|gAa/gCa|E602A|1455|MAGI2|protein_coding|CODING|ENST00000354212|exon_7_77885260_77885898 . 0/1:99:246,0,216 . . 7 81359051 rs5745687 C T NON_SYNONYMOUS_CODING HGF MODERATE|MISSENSE|Gaa/Aaa|E299K|723|HGF|protein_coding|CODING|ENST00000457544|exon_7_81358921_81359095 . 0/1:99:250,0,255 . . 7 81359051 rs5745687 C T NON_SYNONYMOUS_CODING HGF MODERATE|MISSENSE|Gaa/Aaa|E304K|728|HGF|protein_coding|CODING|ENST00000222390|exon_7_81358921_81359095 . 0/1:99:250,0,255 . . 7 82784456 rs6972461 A G NON_SYNONYMOUS_CODING PCLO MODERATE|MISSENSE|Tct/Cct|S447P|3634|PCLO|protein_coding|CODING|ENST00000431819|exon_7_82784064_82784467 . . . 0/1:41:122,0,38 7 82784456 rs6972461 A G NON_SYNONYMOUS_CODING PCLO MODERATE|MISSENSE|Tct/Cct|S501P|4935|PCLO|protein_coding|CODING|ENST00000423517|exon_7_82784064_82785708 . . . 0/1:41:122,0,38 7 82784456 rs6972461 A G NON_SYNONYMOUS_CODING PCLO MODERATE|MISSENSE|Tct/Cct|S501P|5142|PCLO|protein_coding|CODING|ENST00000333891|exon_7_82784064_82785708 . . . 0/1:41:122,0,38 7 86827147 rs75771893 G A NON_SYNONYMOUS_CODING C7orf23 MODERATE|MISSENSE|tCc/tTc|S115F|119|C7orf23|protein_coding|CODING|ENST00000423734|exon_7_86827017_86827361 0/1:99:255,0,255 . . . 7 88964061 rs80006813 A C NON_SYNONYMOUS_CODING ZNF804B MODERATE|MISSENSE|Aag/Cag|K589Q|1349|ZNF804B|protein_coding|CODING|ENST00000333190|exon_7_88962677_88966346 . . . 0/1:99:255,0,255 7 88965150 rs74564278 A G NON_SYNONYMOUS_CODING ZNF804B MODERATE|MISSENSE|Aaa/Gaa|K952E|1349|ZNF804B|protein_coding|CODING|ENST00000333190|exon_7_88962677_88966346 . . . 0/1:99:255,0,255 7 89856433 rs13228098 G A NON_SYNONYMOUS_CODING STEAP2 MODERATE|MISSENSE|gGg/gAg|G214E|403|STEAP2|protein_coding|CODING|ENST00000402625|exon_7_89856285_89856812 . . . 0/1:99:236,0,255 7 89856433 rs13228098 G A NON_SYNONYMOUS_CODING STEAP2 MODERATE|MISSENSE|gGg/gAg|G214E|419|STEAP2|protein_coding|CODING|ENST00000394632|exon_7_89856285_89856812 . . . 0/1:99:236,0,255 7 89856433 rs13228098 G A NON_SYNONYMOUS_CODING STEAP2 MODERATE|MISSENSE|gGg/gAg|G214E|454|STEAP2|protein_coding|CODING|ENST00000394624|exon_7_89856285_89856812 . . . 0/1:99:236,0,255 7 89856433 rs13228098 G A NON_SYNONYMOUS_CODING STEAP2 MODERATE|MISSENSE|gGg/gAg|G214E|454|STEAP2|protein_coding|CODING|ENST00000394626|exon_7_89856285_89856812 . . . 0/1:99:236,0,255 7 89856433 rs13228098 G A NON_SYNONYMOUS_CODING STEAP2 MODERATE|MISSENSE|gGg/gAg|G214E|454|STEAP2|protein_coding|CODING|ENST00000394629|exon_7_89856285_89856812 . . . 0/1:99:236,0,255 7 89856433 rs13228098 G A NON_SYNONYMOUS_CODING STEAP2 MODERATE|MISSENSE|gGg/gAg|G214E|490|STEAP2|protein_coding|CODING|ENST00000287908|exon_7_89856285_89856812 . . . 0/1:99:236,0,255 7 89856433 rs13228098 G A NON_SYNONYMOUS_CODING STEAP2 MODERATE|MISSENSE|gGg/gAg|G214E|490|STEAP2|protein_coding|CODING|ENST00000394621|exon_7_89856285_89856812 . . . 0/1:99:236,0,255 7 89856433 rs13228098 G A NON_SYNONYMOUS_CODING STEAP2 MODERATE|MISSENSE|gGg/gAg|G214E|490|STEAP2|protein_coding|CODING|ENST00000394622|exon_7_89856285_89856812 . . . 0/1:99:236,0,255 7 89867422 rs17866172 G A NON_SYNONYMOUS_CODING STEAP2 MODERATE|MISSENSE|Gct/Act|A399T|403|STEAP2|protein_coding|CODING|ENST00000402625|exon_7_89867413_89870091 0/1:81:214,0,78 . . . 7 92077203 rs10281879 G A NON_SYNONYMOUS_CODING GATAD1 MODERATE|MISSENSE|Ggc/Agc|G54S|269|GATAD1|protein_coding|CODING|ENST00000287957|exon_7_92076767_92077292 0/1:99:157,0,139 0/1:99:163,0,151 . . 7 92099283 rs55903518 C T NON_SYNONYMOUS_CODING ERVW-1 MODERATE|MISSENSE|cGg/cAg|R138Q|538|ERVW-1|protein_coding|CODING|ENST00000493463|exon_7_92097695_92100738 0/1:99:177,0,223 . . . 7 92132493 rs35996821 T C NON_SYNONYMOUS_CODING PEX1 MODERATE|MISSENSE|atA/atG|I113M|160|PEX1|protein_coding|CODING|ENST00000541751|exon_7_92132355_92132509 0/1:99:255,0,255 . . . 7 92132493 rs35996821 T C NON_SYNONYMOUS_CODING PEX1 MODERATE|MISSENSE|atA/atG|I374M|961|PEX1|protein_coding|CODING|ENST00000438045|exon_7_92132355_92132509 0/1:99:255,0,255 . . . 7 92132493 rs35996821 T C NON_SYNONYMOUS_CODING PEX1 MODERATE|MISSENSE|atA/atG|I639M|1226|PEX1|protein_coding|CODING|ENST00000428214|exon_7_92132355_92132509 0/1:99:255,0,255 . . . 7 92132493 rs35996821 T C NON_SYNONYMOUS_CODING PEX1 MODERATE|MISSENSE|atA/atG|I696M|1283|PEX1|protein_coding|CODING|ENST00000248633|exon_7_92132355_92132509 0/1:99:255,0,255 . . . 7 92732769 rs140921998 T C NON_SYNONYMOUS_CODING SAMD9 MODERATE|MISSENSE|gAt/gGt|D881G|1282|SAMD9|protein_coding|CODING|ENST00000446617|exon_7_92731562_92735418 0/1:99:255,0,255 0/1:99:255,0,255 . . 7 92732769 rs140921998 T C NON_SYNONYMOUS_CODING SAMD9 MODERATE|MISSENSE|gAt/gGt|D881G|1589|SAMD9|protein_coding|CODING|ENST00000379958|exon_7_92728829_92735418 0/1:99:255,0,255 0/1:99:255,0,255 . . 7 93540153 rs17243826 G A NON_SYNONYMOUS_CODING GNGT1 MODERATE|MISSENSE|Gag/Aag|E50K|74|GNGT1|protein_coding|CODING|ENST00000248572|exon_7_93540102_93540577 . . 0/1:99:255,0,255 . 7 93540153 rs17243826 G A NON_SYNONYMOUS_CODING GNGT1 MODERATE|MISSENSE|Gag/Aag|E50K|74|GNGT1|protein_coding|CODING|ENST00000429473|exon_7_93540102_93540382 . . 0/1:99:255,0,255 . 7 94903420 rs2240026 G A NON_SYNONYMOUS_CODING PPP1R9A MODERATE|MISSENSE|aGc/aAc|S1039N|1296|PPP1R9A|protein_coding|CODING|ENST00000289495|exon_7_94903397_94903480 0/1:99:255,0,255 . . . 7 94903420 rs2240026 G A NON_SYNONYMOUS_CODING PPP1R9A MODERATE|MISSENSE|aGc/aAc|S1057N|1253|PPP1R9A|protein_coding|CODING|ENST00000424654|exon_7_94903397_94903480 0/1:99:255,0,255 . . . 7 94903420 rs2240026 G A NON_SYNONYMOUS_CODING PPP1R9A MODERATE|MISSENSE|aGc/aAc|S1057N|1253|PPP1R9A|protein_coding|CODING|ENST00000456331|exon_7_94903397_94903480 0/1:99:255,0,255 . . . 7 94903420 rs2240026 G A NON_SYNONYMOUS_CODING PPP1R9A MODERATE|MISSENSE|aGc/aAc|S1079N|1374|PPP1R9A|protein_coding|CODING|ENST00000433360|exon_7_94903397_94903480 0/1:99:255,0,255 . . . 7 94937446 rs662 T C NON_SYNONYMOUS_CODING PON1 MODERATE|MISSENSE|cAa/cGa|Q192R|355|PON1|protein_coding|CODING|ENST00000222381|exon_7_94937323_94937523 0/1:99:207,0,255 . 0/1:99:255,0,211 . 7 94937446 rs662 T C NON_SYNONYMOUS_CODING PON1 MODERATE|MISSENSE|cAa/cGa|Q192R|355|PON1|protein_coding|CODING|ENST00000542556|exon_7_94937323_94937523 0/1:99:207,0,255 . 0/1:99:255,0,211 . 7 98779612 . A G NON_SYNONYMOUS_CODING KPNA7 MODERATE|MISSENSE|aTc/aCc|I404T|516|KPNA7|protein_coding|CODING|ENST00000327442|exon_7_98779506_98779688 . . 0/1:99:252,0,204 . 7 99669620 . TCTCCTC TCTC CODON_DELETION ZNF3 MODERATE||gag/-|E125-|147|ZNF3|protein_coding|CODING|ENST00000412947|exon_7_99669553_99669835 0/1:99:209,0,255 . . . 7 99669620 . TCTCCTC TCTC CODON_DELETION ZNF3 MODERATE||gag/-|E161-|183|ZNF3|protein_coding|CODING|ENST00000428683|exon_7_99669553_99669835 0/1:99:209,0,255 . . . 7 99669620 . TCTCCTC TCTC CODON_DELETION ZNF3 MODERATE||gag/-|E161-|183|ZNF3|protein_coding|CODING|ENST00000449785|exon_7_99669553_99669835 0/1:99:209,0,255 . . . 7 99669620 . TCTCCTC TCTC CODON_DELETION ZNF3 MODERATE||gag/-|E161-|446|ZNF3|protein_coding|CODING|ENST00000299667|exon_7_99667611_99669835 0/1:99:209,0,255 . . . 7 99669620 . TCTCCTC TCTC CODON_DELETION ZNF3 MODERATE||gag/-|E161-|446|ZNF3|protein_coding|CODING|ENST00000303915|exon_7_99667602_99669835 0/1:99:209,0,255 . . . 7 99669620 . TCTCCTC TCTC CODON_DELETION ZNF3 MODERATE||gag/-|E161-|446|ZNF3|protein_coding|CODING|ENST00000424697|exon_7_99667597_99669835 0/1:99:209,0,255 . . . 7 99954393 rs6946768 G A NON_SYNONYMOUS_CODING PILRB MODERATE|MISSENSE|cGa/cAa|R57Q|106|PILRB|protein_coding|CODING|ENST00000455145|exon_7_99954017_99954506 . 1/1:99:255,72,0 0/1:99:241,0,222 . 7 99954393 rs6946768 G A NON_SYNONYMOUS_CODING PILRB MODERATE|MISSENSE|cGa/cAa|R57Q|271|PILRB|protein_coding|CODING|ENST00000448382|exon_7_99954017_99954506 . 1/1:99:255,72,0 0/1:99:241,0,222 . 7 99954393 rs6946768 G A NON_SYNONYMOUS_CODING PILRB MODERATE|MISSENSE|cGa/cAa|R57Q|332|PILRB|protein_coding|CODING|ENST00000413850|exon_7_99954201_99954455 . 1/1:99:255,72,0 0/1:99:241,0,222 . 7 99955866 rs61735533 G A NON_SYNONYMOUS_CODING PILRB MODERATE|MISSENSE|Gcc/Acc|A103T|106|PILRB|protein_coding|CODING|ENST00000455145|exon_7_99955843_99955882 . 1/1:45:186,24,0 0/1:48:140,0,45 . 7 99955866 rs61735533 G A NON_SYNONYMOUS_CODING PILRB MODERATE|MISSENSE|Gcc/Acc|A103T|271|PILRB|protein_coding|CODING|ENST00000448382|exon_7_99955843_99955989 . 1/1:45:186,24,0 0/1:48:140,0,45 . 7 99955866 rs61735533 G A NON_SYNONYMOUS_CODING PILRB MODERATE|MISSENSE|Gcc/Acc|A86T|332|PILRB|protein_coding|CODING|ENST00000413850|exon_7_99955843_99955989 . 1/1:45:186,24,0 0/1:48:140,0,45 . 7 99956439 rs35986051 T C NON_SYNONYMOUS_CODING PILRB MODERATE|MISSENSE|gTt/gCt|V169A|332|PILRB|protein_coding|CODING|ENST00000413850|exon_7_99956313_99956702 . 1/1:60:57,39,0 . . 7 99956439 rs35986051 T C NON_SYNONYMOUS_CODING PILRB MODERATE|MISSENSE|gTt/gCt|V64A|120|PILRB|protein_coding|CODING|ENST00000438231|exon_7_99956313_99956612 . 1/1:60:57,39,0 . . 7 99956439 rs35986051 T C NON_SYNONYMOUS_CODING PILRB MODERATE|MISSENSE|gTt/gCt|V64A|126|PILRB|protein_coding|CODING|ENST00000419749|exon_7_99956313_99956631 . 1/1:60:57,39,0 . . 7 99956439 rs35986051 T C NON_SYNONYMOUS_CODING PILRB MODERATE|MISSENSE|gTt/gCt|V64A|126|PILRB|protein_coding|CODING|ENST00000422808|exon_7_99956313_99956631 . 1/1:60:57,39,0 . . 7 99956439 rs35986051 T C NON_SYNONYMOUS_CODING PILRB MODERATE|MISSENSE|gTt/gCt|V64A|126|PILRB|protein_coding|CODING|ENST00000443526|exon_7_99956313_99956631 . 1/1:60:57,39,0 . . 7 99956439 rs35986051 T C NON_SYNONYMOUS_CODING PILRB MODERATE|MISSENSE|gTt/gCt|V64A|126|PILRB|protein_coding|CODING|ENST00000457519|exon_7_99956313_99956631 . 1/1:60:57,39,0 . . 7 99956439 rs35986051 T C NON_SYNONYMOUS_CODING PILRB MODERATE|MISSENSE|gTt/gCt|V64A|227|PILRB|protein_coding|CODING|ENST00000310771|exon_7_99956313_99956702 . 1/1:60:57,39,0 . . 7 99956439 rs35986051 T C NON_SYNONYMOUS_CODING PILRB MODERATE|MISSENSE|gTt/gCt|V64A|227|PILRB|protein_coding|CODING|ENST00000420688|exon_7_99956313_99956702 . 1/1:60:57,39,0 . . 7 99956439 rs35986051 T C NON_SYNONYMOUS_CODING PILRB MODERATE|MISSENSE|gTt/gCt|V64A|227|PILRB|protein_coding|CODING|ENST00000444073|exon_7_99956313_99956702 . 1/1:60:57,39,0 . . 7 99956439 rs35986051 T C NON_SYNONYMOUS_CODING PILRB MODERATE|MISSENSE|gTt/gCt|V64A|227|PILRB|protein_coding|CODING|ENST00000452089|exon_7_99956313_99956702 . 1/1:60:57,39,0 . . 7 99956444 rs11761306 A G NON_SYNONYMOUS_CODING PILRB MODERATE|MISSENSE|Aac/Gac|N171D|332|PILRB|protein_coding|CODING|ENST00000413850|exon_7_99956313_99956702 . 1/1:75:87,39,0 . . 7 99956444 rs11761306 A G NON_SYNONYMOUS_CODING PILRB MODERATE|MISSENSE|Aac/Gac|N66D|120|PILRB|protein_coding|CODING|ENST00000438231|exon_7_99956313_99956612 . 1/1:75:87,39,0 . . 7 99956444 rs11761306 A G NON_SYNONYMOUS_CODING PILRB MODERATE|MISSENSE|Aac/Gac|N66D|126|PILRB|protein_coding|CODING|ENST00000419749|exon_7_99956313_99956631 . 1/1:75:87,39,0 . . 7 99956444 rs11761306 A G NON_SYNONYMOUS_CODING PILRB MODERATE|MISSENSE|Aac/Gac|N66D|126|PILRB|protein_coding|CODING|ENST00000422808|exon_7_99956313_99956631 . 1/1:75:87,39,0 . . 7 99956444 rs11761306 A G NON_SYNONYMOUS_CODING PILRB MODERATE|MISSENSE|Aac/Gac|N66D|126|PILRB|protein_coding|CODING|ENST00000443526|exon_7_99956313_99956631 . 1/1:75:87,39,0 . . 7 99956444 rs11761306 A G NON_SYNONYMOUS_CODING PILRB MODERATE|MISSENSE|Aac/Gac|N66D|126|PILRB|protein_coding|CODING|ENST00000457519|exon_7_99956313_99956631 . 1/1:75:87,39,0 . . 7 99956444 rs11761306 A G NON_SYNONYMOUS_CODING PILRB MODERATE|MISSENSE|Aac/Gac|N66D|227|PILRB|protein_coding|CODING|ENST00000310771|exon_7_99956313_99956702 . 1/1:75:87,39,0 . . 7 99956444 rs11761306 A G NON_SYNONYMOUS_CODING PILRB MODERATE|MISSENSE|Aac/Gac|N66D|227|PILRB|protein_coding|CODING|ENST00000420688|exon_7_99956313_99956702 . 1/1:75:87,39,0 . . 7 99956444 rs11761306 A G NON_SYNONYMOUS_CODING PILRB MODERATE|MISSENSE|Aac/Gac|N66D|227|PILRB|protein_coding|CODING|ENST00000444073|exon_7_99956313_99956702 . 1/1:75:87,39,0 . . 7 99956444 rs11761306 A G NON_SYNONYMOUS_CODING PILRB MODERATE|MISSENSE|Aac/Gac|N66D|227|PILRB|protein_coding|CODING|ENST00000452089|exon_7_99956313_99956702 . 1/1:75:87,39,0 . . 7 99957128 . GCCTCCTCCTCCT GCCTCCTCCT CODON_CHANGE_PLUS_CODON_DELETION PILRB MODERATE||ctcctg/ctg|LL211L|227|PILRB|protein_coding|CODING|ENST00000310771|exon_7_99956960_99957160 . 1/1:99:255,75,0 0/1:99:255,0,255 . 7 99957128 . GCCTCCTCCTCCT GCCTCCTCCT CODON_CHANGE_PLUS_CODON_DELETION PILRB MODERATE||ctcctg/ctg|LL211L|227|PILRB|protein_coding|CODING|ENST00000420688|exon_7_99956960_99957160 . 1/1:99:255,75,0 0/1:99:255,0,255 . 7 99957128 . GCCTCCTCCTCCT GCCTCCTCCT CODON_CHANGE_PLUS_CODON_DELETION PILRB MODERATE||ctcctg/ctg|LL211L|227|PILRB|protein_coding|CODING|ENST00000444073|exon_7_99956960_99957160 . 1/1:99:255,75,0 0/1:99:255,0,255 . 7 99957128 . GCCTCCTCCTCCT GCCTCCTCCT CODON_CHANGE_PLUS_CODON_DELETION PILRB MODERATE||ctcctg/ctg|LL211L|227|PILRB|protein_coding|CODING|ENST00000452089|exon_7_99956960_99957160 . 1/1:99:255,75,0 0/1:99:255,0,255 . 7 99957128 . GCCTCCTCCTCCT GCCTCCTCCT CODON_CHANGE_PLUS_CODON_DELETION PILRB MODERATE||ctcctg/ctg|LL316L|332|PILRB|protein_coding|CODING|ENST00000413850|exon_7_99956960_99957160 . 1/1:99:255,75,0 0/1:99:255,0,255 . 7 99957128 . GCCTCCTCCTCCT GCCTCCTCCT CODON_DELETION PILRB MODERATE||cct/-|P142-|149|PILRB|protein_coding|CODING|ENST00000444874|exon_7_99956960_99957160 . 1/1:99:255,75,0 0/1:99:255,0,255 . 7 99957128 . GCCTCCTCCTCCT GCCTCCTCCT CODON_DELETION PILRB MODERATE||cct/-|P264-|271|PILRB|protein_coding|CODING|ENST00000448382|exon_7_99956960_99957160 . 1/1:99:255,75,0 0/1:99:255,0,255 . 7 100187349 rs145042937 T A NON_SYNONYMOUS_CODING FBXO24 MODERATE|MISSENSE|gTc/gAc|V29D|618|FBXO24|protein_coding|CODING|ENST00000427939|exon_7_100187252_100187416 . . 0/1:99:209,0,199 . 7 100331837 rs12673246 C T NON_SYNONYMOUS_CODING ZAN MODERATE|MISSENSE|Ctt/Ttt|L16F|2623|ZAN|protein_coding|CODING|ENST00000538115|exon_7_100331644_100331844 1/1:63:255,33,0 0/1:99:242,0,223 . . 7 100331837 rs12673246 C T NON_SYNONYMOUS_CODING ZAN MODERATE|MISSENSE|Ctt/Ttt|L16F|2688|ZAN|protein_coding|CODING|ENST00000542585|exon_7_100331644_100331844 1/1:63:255,33,0 0/1:99:242,0,223 . . 7 100331837 rs12673246 C T NON_SYNONYMOUS_CODING ZAN MODERATE|MISSENSE|Ctt/Ttt|L16F|2720|ZAN|protein_coding|CODING|ENST00000546292|exon_7_100331644_100331844 1/1:63:255,33,0 0/1:99:242,0,223 . . 7 100353013 . TACAACAAC TACAAC CODON_DELETION ZAN MODERATE||aac/-|N1099-|2623|ZAN|protein_coding|CODING|ENST00000538115|exon_7_100352849_100353033 . . 1/1:99:255,63,0 . 7 100353013 . TACAACAAC TACAAC CODON_DELETION ZAN MODERATE||aac/-|N1099-|2688|ZAN|protein_coding|CODING|ENST00000542585|exon_7_100352849_100353033 . . 1/1:99:255,63,0 . 7 100353013 . TACAACAAC TACAAC CODON_DELETION ZAN MODERATE||aac/-|N1099-|2720|ZAN|protein_coding|CODING|ENST00000546292|exon_7_100352849_100353033 . . 1/1:99:255,63,0 . 7 100365542 rs183014219 C A NON_SYNONYMOUS_CODING ZAN MODERATE|MISSENSE|aCg/aAg|T1650K|2623|ZAN|protein_coding|CODING|ENST00000538115|exon_7_100365454_100365634 . 0/1:99:233,0,202 . . 7 100365542 rs183014219 C A NON_SYNONYMOUS_CODING ZAN MODERATE|MISSENSE|aCg/aAg|T1650K|2688|ZAN|protein_coding|CODING|ENST00000542585|exon_7_100365454_100365634 . 0/1:99:233,0,202 . . 7 100365542 rs183014219 C A NON_SYNONYMOUS_CODING ZAN MODERATE|MISSENSE|aCg/aAg|T1650K|2720|ZAN|protein_coding|CODING|ENST00000546292|exon_7_100365454_100365634 . 0/1:99:233,0,202 . . 7 100365542 rs183014219 C A NON_SYNONYMOUS_CODING ZAN MODERATE|MISSENSE|aCg/aAg|T227K|1184|ZAN|protein_coding|CODING|ENST00000546213|exon_7_100365454_100365634 . 0/1:99:233,0,202 . . 7 100371473 rs314299 C T NON_SYNONYMOUS_CODING ZAN MODERATE|MISSENSE|Cgt/Tgt|R1922C|2623|ZAN|protein_coding|CODING|ENST00000538115|exon_7_100371344_100371475 . 0/1:99:217,0,220 . . 7 100371473 rs314299 C T NON_SYNONYMOUS_CODING ZAN MODERATE|MISSENSE|Cgt/Tgt|R1922C|2688|ZAN|protein_coding|CODING|ENST00000542585|exon_7_100371344_100371475 . 0/1:99:217,0,220 . . 7 100371473 rs314299 C T NON_SYNONYMOUS_CODING ZAN MODERATE|MISSENSE|Cgt/Tgt|R1922C|2720|ZAN|protein_coding|CODING|ENST00000546292|exon_7_100371344_100371475 . 0/1:99:217,0,220 . . 7 100371473 rs314299 C T NON_SYNONYMOUS_CODING ZAN MODERATE|MISSENSE|Cgt/Tgt|R433C|1184|ZAN|protein_coding|CODING|ENST00000546213|exon_7_100371404_100371475 . 0/1:99:217,0,220 . . 7 100374087 rs314300 A G NON_SYNONYMOUS_CODING ZAN MODERATE|MISSENSE|aAt/aGt|N2072S|2623|ZAN|protein_coding|CODING|ENST00000538115|exon_7_100374062_100374186 . 0/1:99:115,0,140 . . 7 100374087 rs314300 A G NON_SYNONYMOUS_CODING ZAN MODERATE|MISSENSE|aAt/aGt|N2072S|2688|ZAN|protein_coding|CODING|ENST00000542585|exon_7_100374062_100374186 . 0/1:99:115,0,140 . . 7 100374087 rs314300 A G NON_SYNONYMOUS_CODING ZAN MODERATE|MISSENSE|aAt/aGt|N2072S|2720|ZAN|protein_coding|CODING|ENST00000546292|exon_7_100374062_100374186 . 0/1:99:115,0,140 . . 7 100374087 rs314300 A G NON_SYNONYMOUS_CODING ZAN MODERATE|MISSENSE|aAt/aGt|N583S|1184|ZAN|protein_coding|CODING|ENST00000546213|exon_7_100374062_100374186 . 0/1:99:115,0,140 . . 7 100389590 rs76325149 C T NON_SYNONYMOUS_CODING ZAN MODERATE|MISSENSE|gCt/gTt|A2510V|2623|ZAN|protein_coding|CODING|ENST00000538115|exon_7_100389588_100389770 0/1:99:218,0,236 0/1:99:166,0,255 . . 7 100389590 rs76325149 C T NON_SYNONYMOUS_CODING ZAN MODERATE|MISSENSE|gCt/gTt|A2510V|2688|ZAN|protein_coding|CODING|ENST00000542585|exon_7_100389588_100389770 0/1:99:218,0,236 0/1:99:166,0,255 . . 7 100389590 rs76325149 C T NON_SYNONYMOUS_CODING ZAN MODERATE|MISSENSE|gCt/gTt|A2510V|2720|ZAN|protein_coding|CODING|ENST00000546292|exon_7_100389588_100389770 0/1:99:218,0,236 0/1:99:166,0,255 . . 7 100486110 rs11171 C T NON_SYNONYMOUS_CODING SRRT MODERATE|MISSENSE|aCc/aTc|T221I|223|SRRT|protein_coding|CODING|ENST00000342198|exon_7_100486095_100486285 . 0/1:99:212,0,255 . . 7 100486110 rs11171 C T NON_SYNONYMOUS_CODING SRRT MODERATE|MISSENSE|aCc/aTc|T92I|147|SRRT|protein_coding|CODING|ENST00000445337|exon_7_100486095_100486281 . 0/1:99:212,0,255 . . 7 100490797 rs1799805 G T NON_SYNONYMOUS_CODING ACHE MODERATE|MISSENSE|Cac/Aac|H353N|396|ACHE|protein_coding|CODING|ENST00000426415|exon_7_100490786_100491854 . 0/1:99:227,0,195 . . 7 100490797 rs1799805 G T NON_SYNONYMOUS_CODING ACHE MODERATE|MISSENSE|Cac/Aac|H353N|433|ACHE|protein_coding|CODING|ENST00000430554|exon_7_100490786_100491854 . 0/1:99:227,0,195 . . 7 100490797 rs1799805 G T NON_SYNONYMOUS_CODING ACHE MODERATE|MISSENSE|Cac/Aac|H353N|526|ACHE|protein_coding|CODING|ENST00000419336|exon_7_100490786_100491873 . 0/1:99:227,0,195 . . 7 100490797 rs1799805 G T NON_SYNONYMOUS_CODING ACHE MODERATE|MISSENSE|Cac/Aac|H353N|600|ACHE|protein_coding|CODING|ENST00000422451|exon_7_100490786_100491873 . 0/1:99:227,0,195 . . 7 100490797 rs1799805 G T NON_SYNONYMOUS_CODING ACHE MODERATE|MISSENSE|Cac/Aac|H353N|614|ACHE|protein_coding|CODING|ENST00000241069|exon_7_100490786_100491873 . 0/1:99:227,0,195 . . 7 100490797 rs1799805 G T NON_SYNONYMOUS_CODING ACHE MODERATE|MISSENSE|Cac/Aac|H353N|614|ACHE|protein_coding|CODING|ENST00000412389|exon_7_100490786_100492009 . 0/1:99:227,0,195 . . 7 100490797 rs1799805 G T NON_SYNONYMOUS_CODING ACHE MODERATE|MISSENSE|Cac/Aac|H353N|614|ACHE|protein_coding|CODING|ENST00000428317|exon_7_100490786_100491873 . 0/1:99:227,0,195 . . 7 100490797 rs1799805 G T NON_SYNONYMOUS_CODING ACHE MODERATE|MISSENSE|Cac/Aac|H353N|617|ACHE|protein_coding|CODING|ENST00000302913|exon_7_100490786_100491873 . 0/1:99:227,0,195 . . 7 100490797 rs1799805 G T NON_SYNONYMOUS_CODING ACHE MODERATE|MISSENSE|Cac/Aac|H353N|617|ACHE|protein_coding|CODING|ENST00000411582|exon_7_100490786_100491876 . 0/1:99:227,0,195 . . 7 100549840 rs75741102 C T NON_SYNONYMOUS_CODING AC118759.1 MODERATE|MISSENSE|Ccc/Tcc|P141S|334|AC118759.1|protein_coding|CODING|ENST00000379458|exon_7_100549481_100550424 . . 0/1:80:77,0,255 . 7 100549942 rs73714230 T C NON_SYNONYMOUS_CODING AC118759.1 MODERATE|MISSENSE|Tct/Cct|S175P|334|AC118759.1|protein_coding|CODING|ENST00000379458|exon_7_100549481_100550424 . . . 0/1:81:78,0,255 7 100551502 rs28515787 A C NON_SYNONYMOUS_CODING MUC3A MODERATE|MISSENSE|Atc/Ctc|I85L|876|MUC3A|protein_coding|CODING|ENST00000319509|exon_7_100551250_100552774 0/1:99:255,0,255 . 0/1:99:255,0,123 . 7 100552358 rs73714254 C G NON_SYNONYMOUS_CODING MUC3A MODERATE|MISSENSE|aCc/aGc|T370S|876|MUC3A|protein_coding|CODING|ENST00000319509|exon_7_100551250_100552774 0/1:99:101,0,255 . . . 7 100552435 rs76244845 T A NON_SYNONYMOUS_CODING MUC3A MODERATE|MISSENSE|Tca/Aca|S396T|876|MUC3A|protein_coding|CODING|ENST00000319509|exon_7_100551250_100552774 . . 0/1:99:97,0,255 . 7 100552436 rs78685360 C T NON_SYNONYMOUS_CODING MUC3A MODERATE|MISSENSE|tCa/tTa|S396L|876|MUC3A|protein_coding|CODING|ENST00000319509|exon_7_100551250_100552774 . . 0/1:79:76,0,255 . 7 100634838 rs61745822 C A NON_SYNONYMOUS_CODING MUC12 MODERATE|MISSENSE|Cca/Aca|P332T|5335|MUC12|protein_coding|CODING|ENST00000536621|exon_7_100633912_100648800 . . 0/1:59:56,0,255 . 7 100634838 rs61745822 C A NON_SYNONYMOUS_CODING MUC12 MODERATE|MISSENSE|Cca/Aca|P475T|5478|MUC12|protein_coding|CODING|ENST00000379442|exon_7_100633866_100648800 . . 0/1:59:56,0,255 . 7 100635535 rs35240454 C T NON_SYNONYMOUS_CODING MUC12 MODERATE|MISSENSE|tCc/tTc|S564F|5335|MUC12|protein_coding|CODING|ENST00000536621|exon_7_100633912_100648800 . 0/1:97:94,0,255 . . 7 100635535 rs35240454 C T NON_SYNONYMOUS_CODING MUC12 MODERATE|MISSENSE|tCc/tTc|S707F|5478|MUC12|protein_coding|CODING|ENST00000379442|exon_7_100633866_100648800 . 0/1:97:94,0,255 . . 7 100635767 rs34214710 G C NON_SYNONYMOUS_CODING MUC12 MODERATE|MISSENSE|aaG/aaC|K641N|5335|MUC12|protein_coding|CODING|ENST00000536621|exon_7_100633912_100648800 . 0/1:99:193,0,255 . . 7 100635767 rs34214710 G C NON_SYNONYMOUS_CODING MUC12 MODERATE|MISSENSE|aaG/aaC|K784N|5478|MUC12|protein_coding|CODING|ENST00000379442|exon_7_100633866_100648800 . 0/1:99:193,0,255 . . 7 100636147 rs34196598 C T NON_SYNONYMOUS_CODING MUC12 MODERATE|MISSENSE|aCa/aTa|T768I|5335|MUC12|protein_coding|CODING|ENST00000536621|exon_7_100633912_100648800 . 0/1:99:146,0,241 . . 7 100636147 rs34196598 C T NON_SYNONYMOUS_CODING MUC12 MODERATE|MISSENSE|aCa/aTa|T911I|5478|MUC12|protein_coding|CODING|ENST00000379442|exon_7_100633866_100648800 . 0/1:99:146,0,241 . . 7 100636584 rs150131157 T C NON_SYNONYMOUS_CODING MUC12 MODERATE|MISSENSE|Tca/Cca|S1057P|5478|MUC12|protein_coding|CODING|ENST00000379442|exon_7_100633866_100648800 . 1/1:57:117,30,0 . . 7 100636584 rs150131157 T C NON_SYNONYMOUS_CODING MUC12 MODERATE|MISSENSE|Tca/Cca|S914P|5335|MUC12|protein_coding|CODING|ENST00000536621|exon_7_100633912_100648800 . 1/1:57:117,30,0 . . 7 100636722 rs201822262 G C NON_SYNONYMOUS_CODING MUC12 MODERATE|MISSENSE|Gtt/Ctt|V1103L|5478|MUC12|protein_coding|CODING|ENST00000379442|exon_7_100633866_100648800 . 1/1:16:115,9,0 . . 7 100636722 rs201822262 G C NON_SYNONYMOUS_CODING MUC12 MODERATE|MISSENSE|Gtt/Ctt|V960L|5335|MUC12|protein_coding|CODING|ENST00000536621|exon_7_100633912_100648800 . 1/1:16:115,9,0 . . 7 100637338 rs76001002 G C NON_SYNONYMOUS_CODING MUC12 MODERATE|MISSENSE|cGa/cCa|R1165P|5335|MUC12|protein_coding|CODING|ENST00000536621|exon_7_100633912_100648800 . 1/1:51:142,27,0 . . 7 100637338 rs76001002 G C NON_SYNONYMOUS_CODING MUC12 MODERATE|MISSENSE|cGa/cCa|R1308P|5478|MUC12|protein_coding|CODING|ENST00000379442|exon_7_100633866_100648800 . 1/1:51:142,27,0 . . 7 100646055 rs147239420 A G NON_SYNONYMOUS_CODING MUC12 MODERATE|MISSENSE|Act/Gct|T4071A|5335|MUC12|protein_coding|CODING|ENST00000536621|exon_7_100633912_100648800 . . 1/1:93:91,48,0 . 7 100646055 rs147239420 A G NON_SYNONYMOUS_CODING MUC12 MODERATE|MISSENSE|Act/Gct|T4214A|5478|MUC12|protein_coding|CODING|ENST00000379442|exon_7_100633866_100648800 . . 1/1:93:91,48,0 . 7 100646199 rs181671450 T C NON_SYNONYMOUS_CODING MUC12 MODERATE|MISSENSE|Ttt/Ctt|F4119L|5335|MUC12|protein_coding|CODING|ENST00000536621|exon_7_100633912_100648800 . 0/1:84:121,0,81 . . 7 100646199 rs181671450 T C NON_SYNONYMOUS_CODING MUC12 MODERATE|MISSENSE|Ttt/Ctt|F4262L|5478|MUC12|protein_coding|CODING|ENST00000379442|exon_7_100633866_100648800 . 0/1:84:121,0,81 . . 7 100646824 rs201628729 C T NON_SYNONYMOUS_CODING MUC12 MODERATE|MISSENSE|aCc/aTc|T4327I|5335|MUC12|protein_coding|CODING|ENST00000536621|exon_7_100633912_100648800 . 0/1:99:100,0,210 . . 7 100646824 rs201628729 C T NON_SYNONYMOUS_CODING MUC12 MODERATE|MISSENSE|aCc/aTc|T4470I|5478|MUC12|protein_coding|CODING|ENST00000379442|exon_7_100633866_100648800 . 0/1:99:100,0,210 . . 7 100647594 rs111391555 A C NON_SYNONYMOUS_CODING MUC12 MODERATE|MISSENSE|Act/Cct|T4584P|5335|MUC12|protein_coding|CODING|ENST00000536621|exon_7_100633912_100648800 . 1/1:21:71,12,0 . . 7 100647594 rs111391555 A C NON_SYNONYMOUS_CODING MUC12 MODERATE|MISSENSE|Act/Cct|T4727P|5478|MUC12|protein_coding|CODING|ENST00000379442|exon_7_100633866_100648800 . 1/1:21:71,12,0 . . 7 100676757 . G A NON_SYNONYMOUS_CODING MUC17 MODERATE|MISSENSE|aGc/aAc|S687N|4493|MUC17|protein_coding|CODING|ENST00000306151|exon_7_100674882_100687100 0/1:99:255,0,255 . . . 7 100676817 rs71557216 C A NON_SYNONYMOUS_CODING MUC17 MODERATE|MISSENSE|aCc/aAc|T707N|4493|MUC17|protein_coding|CODING|ENST00000306151|exon_7_100674882_100687100 . 0/1:99:255,0,228 . . 7 100677816 rs77671499 G A NON_SYNONYMOUS_CODING MUC17 MODERATE|MISSENSE|gGa/gAa|G1040E|4493|MUC17|protein_coding|CODING|ENST00000306151|exon_7_100674882_100687100 . 0/1:97:94,0,255 . . 7 100679348 . G C NON_SYNONYMOUS_CODING MUC17 MODERATE|MISSENSE|Gcc/Ccc|A1551P|4493|MUC17|protein_coding|CODING|ENST00000306151|exon_7_100674882_100687100 0/1:99:255,0,255 . . . 7 100679760 rs73168394 G A NON_SYNONYMOUS_CODING MUC17 MODERATE|MISSENSE|gGa/gAa|G1688E|4493|MUC17|protein_coding|CODING|ENST00000306151|exon_7_100674882_100687100 . 0/1:69:66,0,255 . . 7 100680521 rs73712043 G A NON_SYNONYMOUS_CODING MUC17 MODERATE|MISSENSE|Gaa/Aaa|E1942K|4493|MUC17|protein_coding|CODING|ENST00000306151|exon_7_100674882_100687100 0/1:99:255,0,218 . . . 7 100681751 rs73712044 A G NON_SYNONYMOUS_CODING MUC17 MODERATE|MISSENSE|Agt/Ggt|S2352G|4493|MUC17|protein_coding|CODING|ENST00000306151|exon_7_100674882_100687100 0/1:99:237,0,255 . . . 7 100682843 rs34924040 C G NON_SYNONYMOUS_CODING MUC17 MODERATE|MISSENSE|Cct/Gct|P2716A|4493|MUC17|protein_coding|CODING|ENST00000306151|exon_7_100674882_100687100 . 0/1:77:74,0,255 . . 7 100684650 rs12673753 C G NON_SYNONYMOUS_CODING MUC17 MODERATE|MISSENSE|gCc/gGc|A3318G|4493|MUC17|protein_coding|CODING|ENST00000306151|exon_7_100674882_100687100 0/1:99:255,0,247 . . . 7 100732376 rs74927431 G A NON_SYNONYMOUS_CODING TRIM56 MODERATE|MISSENSE|Gcg/Acg|A595T|755|TRIM56|protein_coding|CODING|ENST00000306085|exon_7_100730593_100733909 0/1:99:215,0,123 . . . 7 100771717 rs6092 G A NON_SYNONYMOUS_CODING SERPINE1 MODERATE|MISSENSE|Gcc/Acc|A15T|139|SERPINE1|protein_coding|CODING|ENST00000441467|exon_7_100771674_100771764 . 0/1:99:236,0,218 . . 7 100771717 rs6092 G A NON_SYNONYMOUS_CODING SERPINE1 MODERATE|MISSENSE|Gcc/Acc|A15T|387|SERPINE1|protein_coding|CODING|ENST00000445463|exon_7_100771674_100771764 . 0/1:99:236,0,218 . . 7 100771717 rs6092 G A NON_SYNONYMOUS_CODING SERPINE1 MODERATE|MISSENSE|Gcc/Acc|A15T|402|SERPINE1|protein_coding|CODING|ENST00000223095|exon_7_100771674_100771945 . 0/1:99:236,0,218 . . 7 100887319 rs148532612 A G NON_SYNONYMOUS_CODING FIS1 MODERATE|MISSENSE|aTg/aCg|M39T|154|FIS1|protein_coding|CODING|ENST00000435848|exon_7_100887288_100887420 . . . 0/1:99:132,0,223 7 102065651 rs1047998 C T NON_SYNONYMOUS_CODING PRKRIP1 MODERATE|MISSENSE|Cgc/Tgc|R157C|157|PRKRIP1|protein_coding|CODING|ENST00000354783|exon_7_102065461_102065995 0/1:99:99,0,255 . 0/1:99:255,0,125 0/1:99:102,0,175 7 102113226 rs148981077 C T NON_SYNONYMOUS_CODING LRWD1 MODERATE|MISSENSE|cCg/cTg|P593L|647|LRWD1|protein_coding|CODING|ENST00000292616|exon_7_102113139_102113251 . 0/1:99:200,0,202 . . 7 102427889 rs116082009 C T NON_SYNONYMOUS_CODING FAM185A MODERATE|MISSENSE|Cgt/Tgt|R230C|275|FAM185A|protein_coding|CODING|ENST00000409231|exon_7_102427782_102427916 . . . 0/1:99:210,0,255 7 102427889 rs116082009 C T NON_SYNONYMOUS_CODING FAM185A MODERATE|MISSENSE|Cgt/Tgt|R247C|299|FAM185A|protein_coding|CODING|ENST00000432852|exon_7_102427782_102427916 . . . 0/1:99:210,0,255 7 102427889 rs116082009 C T NON_SYNONYMOUS_CODING FAM185A MODERATE|MISSENSE|Cgt/Tgt|R347C|392|FAM185A|protein_coding|CODING|ENST00000413034|exon_7_102427782_102427916 . . . 0/1:99:210,0,255 7 102462538 rs77788049 C A NON_SYNONYMOUS_CODING FBXL13 MODERATE|MISSENSE|gGc/gTc|G374V|453|FBXL13|protein_coding|CODING|ENST00000379306|exon_7_102462487_102462650 0/1:99:236,0,255 . . . 7 102462538 rs77788049 C A NON_SYNONYMOUS_CODING FBXL13 MODERATE|MISSENSE|gGc/gTc|G374V|453|FBXL13|protein_coding|CODING|ENST00000456695|exon_7_102462487_102462650 0/1:99:236,0,255 . . . 7 102462538 rs77788049 C A NON_SYNONYMOUS_CODING FBXL13 MODERATE|MISSENSE|gGc/gTc|G377V|456|FBXL13|protein_coding|CODING|ENST00000349747|exon_7_102462487_102462650 0/1:99:236,0,255 . . . 7 102462538 rs77788049 C A NON_SYNONYMOUS_CODING FBXL13 MODERATE|MISSENSE|gGc/gTc|G611V|690|FBXL13|protein_coding|CODING|ENST00000379308|exon_7_102462487_102462650 0/1:99:236,0,255 . . . 7 102462538 rs77788049 C A NON_SYNONYMOUS_CODING FBXL13 MODERATE|MISSENSE|gGc/gTc|G611V|690|FBXL13|protein_coding|CODING|ENST00000455112|exon_7_102462487_102462650 0/1:99:236,0,255 . . . 7 102462538 rs77788049 C A NON_SYNONYMOUS_CODING FBXL13 MODERATE|MISSENSE|gGc/gTc|G628V|707|FBXL13|protein_coding|CODING|ENST00000379305|exon_7_102462487_102462650 0/1:99:236,0,255 . . . 7 102462538 rs77788049 C A NON_SYNONYMOUS_CODING FBXL13 MODERATE|MISSENSE|gGc/gTc|G628V|707|FBXL13|protein_coding|CODING|ENST00000393772|exon_7_102462487_102462650 0/1:99:236,0,255 . . . 7 102462538 rs77788049 C A NON_SYNONYMOUS_CODING FBXL13 MODERATE|MISSENSE|gGc/gTc|G656V|735|FBXL13|protein_coding|CODING|ENST00000313221|exon_7_102462487_102462650 0/1:99:236,0,255 . . . 7 102462538 rs77788049 C A NON_SYNONYMOUS_CODING FBXL13 MODERATE|MISSENSE|gGc/gTc|G656V|735|FBXL13|protein_coding|CODING|ENST00000436908|exon_7_102462487_102462650 0/1:99:236,0,255 . . . 7 102950891 rs117074402 G A NON_SYNONYMOUS_CODING PMPCB MODERATE|MISSENSE|Gca/Aca|A270T|403|PMPCB|protein_coding|CODING|ENST00000420236|exon_7_102950762_102950922 0/1:99:255,0,255 . . . 7 102950891 rs117074402 G A NON_SYNONYMOUS_CODING PMPCB MODERATE|MISSENSE|Gca/Aca|A375T|489|PMPCB|protein_coding|CODING|ENST00000249269|exon_7_102950762_102950922 0/1:99:255,0,255 . . . 7 102950891 rs117074402 G A NON_SYNONYMOUS_CODING PMPCB MODERATE|MISSENSE|Gca/Aca|A375T|490|PMPCB|protein_coding|CODING|ENST00000428154|exon_7_102950762_102950922 0/1:99:255,0,255 . . . 7 103474041 rs79471015 G C NON_SYNONYMOUS_CODING RELN MODERATE|MISSENSE|aCc/aGc|T139S|3427|RELN|protein_coding|CODING|ENST00000448171|exon_7_103473984_103474119 0/1:99:255,0,255 . . . 7 103474041 rs79471015 G C NON_SYNONYMOUS_CODING RELN MODERATE|MISSENSE|aCc/aGc|T139S|3458|RELN|protein_coding|CODING|ENST00000343529|exon_7_103473984_103474119 0/1:99:255,0,255 . . . 7 103474041 rs79471015 G C NON_SYNONYMOUS_CODING RELN MODERATE|MISSENSE|aCc/aGc|T139S|3460|RELN|protein_coding|CODING|ENST00000424685|exon_7_103473984_103474119 0/1:99:255,0,255 . . . 7 103474041 rs79471015 G C NON_SYNONYMOUS_CODING RELN MODERATE|MISSENSE|aCc/aGc|T139S|3460|RELN|protein_coding|CODING|ENST00000428762|exon_7_103473984_103474119 0/1:99:255,0,255 . . . 7 105148593 rs61741425 G A NON_SYNONYMOUS_CODING PUS7 MODERATE|MISSENSE|Cat/Tat|H123Y|661|PUS7|protein_coding|CODING|ENST00000356362|exon_7_105148562_105148967 . . 0/1:99:255,0,255 . 7 105148593 rs61741425 G A NON_SYNONYMOUS_CODING PUS7 MODERATE|MISSENSE|Cat/Tat|H123Y|661|PUS7|protein_coding|CODING|ENST00000469408|exon_7_105148562_105148991 . . 0/1:99:255,0,255 . 7 105148593 rs61741425 G A NON_SYNONYMOUS_CODING PUS7 MODERATE|MISSENSE|Cat/Tat|H123Y|661|PUS7|protein_coding|CODING|ENST00000544995|exon_7_105148562_105148991 . . 0/1:99:255,0,255 . 7 105177041 rs11556986 A T NON_SYNONYMOUS_CODING RINT1 MODERATE|MISSENSE|Agt/Tgt|S40C|792|RINT1|protein_coding|CODING|ENST00000257700|exon_7_105177012_105177196 . . . 0/1:99:255,0,255 7 105658451 rs6967330 G A NON_SYNONYMOUS_CODING CDHR3 MODERATE|MISSENSE|tGt/tAt|C441Y|797|CDHR3|protein_coding|CODING|ENST00000478080|exon_7_105658292_105658518 0/1:99:255,0,255 0/1:99:217,0,255 . . 7 105658451 rs6967330 G A NON_SYNONYMOUS_CODING CDHR3 MODERATE|MISSENSE|tGt/tAt|C529Y|885|CDHR3|protein_coding|CODING|ENST00000317716|exon_7_105658292_105658518 0/1:99:255,0,255 0/1:99:217,0,255 . . 7 105658451 rs6967330 G A NON_SYNONYMOUS_CODING CDHR3 MODERATE|MISSENSE|tGt/tAt|C529Y|885|CDHR3|protein_coding|CODING|ENST00000542731|exon_7_105658292_105658518 0/1:99:255,0,255 0/1:99:217,0,255 . . 7 105658460 rs73195662 C G NON_SYNONYMOUS_CODING CDHR3 MODERATE|MISSENSE|aCc/aGc|T444S|797|CDHR3|protein_coding|CODING|ENST00000478080|exon_7_105658292_105658518 0/1:99:255,0,255 0/1:99:202,0,255 . . 7 105658460 rs73195662 C G NON_SYNONYMOUS_CODING CDHR3 MODERATE|MISSENSE|aCc/aGc|T532S|885|CDHR3|protein_coding|CODING|ENST00000317716|exon_7_105658292_105658518 0/1:99:255,0,255 0/1:99:202,0,255 . . 7 105658460 rs73195662 C G NON_SYNONYMOUS_CODING CDHR3 MODERATE|MISSENSE|aCc/aGc|T532S|885|CDHR3|protein_coding|CODING|ENST00000542731|exon_7_105658292_105658518 0/1:99:255,0,255 0/1:99:202,0,255 . . 7 106509331 rs17847825 C A NON_SYNONYMOUS_CODING PIK3CG MODERATE|MISSENSE|tCc/tAc|S442Y|1102|PIK3CG|protein_coding|CODING|ENST00000359195|exon_7_106507995_106510001 . . 0/1:99:255,0,246 0/1:99:200,0,255 7 106509331 rs17847825 C A NON_SYNONYMOUS_CODING PIK3CG MODERATE|MISSENSE|tCc/tAc|S442Y|1102|PIK3CG|protein_coding|CODING|ENST00000440650|exon_7_106507995_106510001 . . 0/1:99:255,0,246 0/1:99:200,0,255 7 106509331 rs17847825 C A NON_SYNONYMOUS_CODING PIK3CG MODERATE|MISSENSE|tCc/tAc|S442Y|1102|PIK3CG|protein_coding|CODING|ENST00000496166|exon_7_106507995_106510001 . . 0/1:99:255,0,246 0/1:99:200,0,255 7 106938638 rs35393416 T C NON_SYNONYMOUS_CODING COG5 MODERATE|MISSENSE|cAc/cGc|H452R|823|COG5|protein_coding|CODING|ENST00000393603|exon_7_106938587_106938791 0/1:99:218,0,168 . . . 7 106938638 rs35393416 T C NON_SYNONYMOUS_CODING COG5 MODERATE|MISSENSE|cAc/cGc|H452R|839|COG5|protein_coding|CODING|ENST00000347053|exon_7_106938587_106938791 0/1:99:218,0,168 . . . 7 106938638 rs35393416 T C NON_SYNONYMOUS_CODING COG5 MODERATE|MISSENSE|cAc/cGc|H452R|860|COG5|protein_coding|CODING|ENST00000297135|exon_7_106938587_106938791 0/1:99:218,0,168 . . . 7 108119648 . T C NON_SYNONYMOUS_CODING PNPLA8 MODERATE|MISSENSE|aAc/aGc|N585S|638|PNPLA8|protein_coding|CODING|ENST00000453085|exon_7_108119628_108119823 0/1:99:255,0,255 . . . 7 108119648 . T C NON_SYNONYMOUS_CODING PNPLA8 MODERATE|MISSENSE|aAc/aGc|N585S|682|PNPLA8|protein_coding|CODING|ENST00000453144|exon_7_108119628_108119823 0/1:99:255,0,255 . . . 7 108119648 . T C NON_SYNONYMOUS_CODING PNPLA8 MODERATE|MISSENSE|aAc/aGc|N620S|717|PNPLA8|protein_coding|CODING|ENST00000426128|exon_7_108119628_108119823 0/1:99:255,0,255 . . . 7 108119648 . T C NON_SYNONYMOUS_CODING PNPLA8 MODERATE|MISSENSE|aAc/aGc|N623S|720|PNPLA8|protein_coding|CODING|ENST00000388728|exon_7_108119628_108119823 0/1:99:255,0,255 . . . 7 108119648 . T C NON_SYNONYMOUS_CODING PNPLA8 MODERATE|MISSENSE|aAc/aGc|N685S|782|PNPLA8|protein_coding|CODING|ENST00000257694|exon_7_108119628_108119823 0/1:99:255,0,255 . . . 7 108119648 . T C NON_SYNONYMOUS_CODING PNPLA8 MODERATE|MISSENSE|aAc/aGc|N685S|782|PNPLA8|protein_coding|CODING|ENST00000422087|exon_7_108119628_108119823 0/1:99:255,0,255 . . . 7 108119648 . T C NON_SYNONYMOUS_CODING PNPLA8 MODERATE|MISSENSE|aAc/aGc|N685S|782|PNPLA8|protein_coding|CODING|ENST00000436062|exon_7_108119628_108119823 0/1:99:255,0,255 . . . 7 108154659 rs141089628 A C NON_SYNONYMOUS_CODING PNPLA8 MODERATE|MISSENSE|Tgc/Ggc|C279G|638|PNPLA8|protein_coding|CODING|ENST00000453085|exon_7_108154588_108154737 . . 0/1:99:255,0,255 . 7 108154659 rs141089628 A C NON_SYNONYMOUS_CODING PNPLA8 MODERATE|MISSENSE|Tgc/Ggc|C279G|682|PNPLA8|protein_coding|CODING|ENST00000453144|exon_7_108154588_108154737 . . 0/1:99:255,0,255 . 7 108154659 rs141089628 A C NON_SYNONYMOUS_CODING PNPLA8 MODERATE|MISSENSE|Tgc/Ggc|C379G|717|PNPLA8|protein_coding|CODING|ENST00000426128|exon_7_108154588_108154737 . . 0/1:99:255,0,255 . 7 108154659 rs141089628 A C NON_SYNONYMOUS_CODING PNPLA8 MODERATE|MISSENSE|Tgc/Ggc|C379G|720|PNPLA8|protein_coding|CODING|ENST00000388728|exon_7_108154588_108154737 . . 0/1:99:255,0,255 . 7 108154659 rs141089628 A C NON_SYNONYMOUS_CODING PNPLA8 MODERATE|MISSENSE|Tgc/Ggc|C379G|782|PNPLA8|protein_coding|CODING|ENST00000257694|exon_7_108154588_108154737 . . 0/1:99:255,0,255 . 7 108154659 rs141089628 A C NON_SYNONYMOUS_CODING PNPLA8 MODERATE|MISSENSE|Tgc/Ggc|C379G|782|PNPLA8|protein_coding|CODING|ENST00000422087|exon_7_108154588_108154737 . . 0/1:99:255,0,255 . 7 108154659 rs141089628 A C NON_SYNONYMOUS_CODING PNPLA8 MODERATE|MISSENSE|Tgc/Ggc|C379G|782|PNPLA8|protein_coding|CODING|ENST00000436062|exon_7_108154588_108154737 . . 0/1:99:255,0,255 . 7 111368491 rs12705795 C T NON_SYNONYMOUS_CODING DOCK4 MODERATE|MISSENSE|Gtc/Atc|V1873I|1925|DOCK4|protein_coding|CODING|ENST00000342288|exon_7_111368330_111368776 . . 0/1:99:132,0,228 . 7 111368491 rs12705795 C T NON_SYNONYMOUS_CODING DOCK4 MODERATE|MISSENSE|Gtc/Atc|V1902I|1954|DOCK4|protein_coding|CODING|ENST00000352877|exon_7_111366168_111368776 . . 0/1:99:132,0,228 . 7 111368491 rs12705795 C T NON_SYNONYMOUS_CODING DOCK4 MODERATE|MISSENSE|Gtc/Atc|V1914I|1966|DOCK4|protein_coding|CODING|ENST00000437633|exon_7_111368276_111368776 . . 0/1:99:132,0,228 . 7 111368491 rs12705795 C T NON_SYNONYMOUS_CODING DOCK4 MODERATE|MISSENSE|Gtc/Atc|V1923I|1975|DOCK4|protein_coding|CODING|ENST00000428084|exon_7_111366534_111368776 . . 0/1:99:132,0,228 . 7 111368491 rs12705795 C T NON_SYNONYMOUS_CODING DOCK4 MODERATE|MISSENSE|Gtc/Atc|V797I|849|DOCK4|protein_coding|CODING|ENST00000494651|exon_7_111368100_111368776 . . 0/1:99:132,0,228 . 7 111981007 rs11539696 G A NON_SYNONYMOUS_CODING ZNF277 MODERATE|MISSENSE|Gtg/Atg|V364M|450|ZNF277|protein_coding|CODING|ENST00000361822|exon_7_111980927_111981101 . 0/1:99:255,0,255 . 0/1:99:255,0,255 7 113518498 rs1800000 C A NON_SYNONYMOUS_CODING PPP1R3A MODERATE|MISSENSE|agG/agT|R883S|1122|PPP1R3A|protein_coding|CODING|ENST00000284601|exon_7_113516832_113520180 0/1:99:212,0,255 . . . 7 121680999 rs142748552 C T NON_SYNONYMOUS_CODING PTPRZ1 MODERATE|MISSENSE|Cgc/Tgc|R1056C|1448|PTPRZ1|protein_coding|CODING|ENST00000449182|exon_7_121680870_121681033 . . . 0/1:99:199,0,127 7 121680999 rs142748552 C T NON_SYNONYMOUS_CODING PTPRZ1 MODERATE|MISSENSE|Cgc/Tgc|R1923C|2315|PTPRZ1|protein_coding|CODING|ENST00000393386|exon_7_121680870_121681033 . . . 0/1:99:199,0,127 7 127953238 rs73230638 G A NON_SYNONYMOUS_CODING RBM28 MODERATE|MISSENSE|tCg/tTg|S571L|618|RBM28|protein_coding|CODING|ENST00000415472|exon_7_127953228_127953327 . . 0/1:99:255,0,228 . 7 127953238 rs73230638 G A NON_SYNONYMOUS_CODING RBM28 MODERATE|MISSENSE|tCg/tTg|S712L|759|RBM28|protein_coding|CODING|ENST00000223073|exon_7_127953228_127953327 . . 0/1:99:255,0,228 . 7 127981205 rs73230660 C T NON_SYNONYMOUS_CODING RBM28 MODERATE|MISSENSE|Gaa/Aaa|E63K|203|RBM28|protein_coding|CODING|ENST00000459726|exon_7_127981172_127981273 . . 0/1:99:255,0,238 . 7 128454762 rs61730244 G A NON_SYNONYMOUS_CODING CCDC136 MODERATE|MISSENSE|cGg/cAg|R945Q|1154|CCDC136|protein_coding|CODING|ENST00000297788|exon_7_128454692_128454973 . . 0/1:99:237,0,252 . 7 128454762 rs61730244 G A NON_SYNONYMOUS_CODING CCDC136 MODERATE|MISSENSE|cGg/cAg|R945Q|1157|CCDC136|protein_coding|CODING|ENST00000397697|exon_7_128454692_128454973 . . 0/1:99:237,0,252 . 7 128488734 rs2291569 G A NON_SYNONYMOUS_CODING FLNC MODERATE|MISSENSE|cGg/cAg|R1567Q|2692|FLNC|protein_coding|CODING|ENST00000346177|exon_7_128488615_128488771 . . 0/1:99:110,0,150 . 7 128488734 rs2291569 G A NON_SYNONYMOUS_CODING FLNC MODERATE|MISSENSE|cGg/cAg|R1567Q|2725|FLNC|protein_coding|CODING|ENST00000325888|exon_7_128488615_128488771 . . 0/1:99:110,0,150 . 7 128587374 rs113806178 G A NON_SYNONYMOUS_CODING IRF5 MODERATE|MISSENSE|Ggc/Agc|G164S|227|IRF5|protein_coding|CODING|ENST00000430204|exon_7_128587332_128587589 . 0/1:21:112,0,18 . . 7 128587374 rs113806178 G A NON_SYNONYMOUS_CODING IRF5 MODERATE|MISSENSE|cGg/cAg|R175Q|498|IRF5|protein_coding|CODING|ENST00000249375|exon_7_128587332_128587589 . 0/1:21:112,0,18 . . 7 128587374 rs113806178 G A NON_SYNONYMOUS_CODING IRF5 MODERATE|MISSENSE|cGg/cAg|R175Q|498|IRF5|protein_coding|CODING|ENST00000402030|exon_7_128587332_128587589 . 0/1:21:112,0,18 . . 7 128587374 rs113806178 G A NON_SYNONYMOUS_CODING IRF5 MODERATE|MISSENSE|cGg/cAg|R175Q|498|IRF5|protein_coding|CODING|ENST00000473745|exon_7_128587332_128587589 . 0/1:21:112,0,18 . . 7 128587374 rs113806178 G A NON_SYNONYMOUS_CODING IRF5 MODERATE|MISSENSE|cGg/cAg|R191Q|514|IRF5|protein_coding|CODING|ENST00000357234|exon_7_128587284_128587589 . 0/1:21:112,0,18 . . 7 128587381 rs79724471 T C NON_SYNONYMOUS_CODING IRF5 MODERATE|MISSENSE|cTa/cCa|L166P|227|IRF5|protein_coding|CODING|ENST00000430204|exon_7_128587332_128587589 . 1/1:33:157,18,0 . . 7 128829066 rs41304185 A G NON_SYNONYMOUS_CODING SMO MODERATE|MISSENSE|gAc/gGc|D25G|787|SMO|protein_coding|CODING|ENST00000249373|exon_7_128828713_128829323 . . 0/1:61:58,0,192 . 7 129098165 rs2242030 G A NON_SYNONYMOUS_CODING FAM40B MODERATE|MISSENSE|cGa/cAa|R383Q|758|FAM40B|protein_coding|CODING|ENST00000435494|exon_7_129098056_129098291 0/1:99:250,0,189 . . . 7 129098165 rs2242030 G A NON_SYNONYMOUS_CODING FAM40B MODERATE|MISSENSE|cGa/cAa|R383Q|834|FAM40B|protein_coding|CODING|ENST00000249344|exon_7_129098056_129098291 0/1:99:250,0,189 . . . 7 129098165 rs2242030 G A NON_SYNONYMOUS_CODING FAM40B MODERATE|MISSENSE|cGa/cAa|R81Q|211|FAM40B|protein_coding|CODING|ENST00000450266|exon_7_129097807_129098190 0/1:99:250,0,189 . . . 7 129989852 rs17388190 C T NON_SYNONYMOUS_CODING CPA5 MODERATE|MISSENSE|Cct/Tct|P79S|122|CPA5|protein_coding|CODING|ENST00000463587|exon_7_129989816_129989950 . . 0/1:99:255,0,177 . 7 129989852 rs17388190 C T NON_SYNONYMOUS_CODING CPA5 MODERATE|MISSENSE|Cct/Tct|P79S|403|CPA5|protein_coding|CODING|ENST00000431780|exon_7_129989816_129989950 . . 0/1:99:255,0,177 . 7 129989852 rs17388190 C T NON_SYNONYMOUS_CODING CPA5 MODERATE|MISSENSE|Cct/Tct|P79S|436|CPA5|protein_coding|CODING|ENST00000355388|exon_7_129989816_129989950 . . 0/1:99:255,0,177 . 7 129989852 rs17388190 C T NON_SYNONYMOUS_CODING CPA5 MODERATE|MISSENSE|Cct/Tct|P79S|436|CPA5|protein_coding|CODING|ENST00000393213|exon_7_129989816_129989950 . . 0/1:99:255,0,177 . 7 129989852 rs17388190 C T NON_SYNONYMOUS_CODING CPA5 MODERATE|MISSENSE|Cct/Tct|P79S|436|CPA5|protein_coding|CODING|ENST00000461828|exon_7_129989816_129989950 . . 0/1:99:255,0,177 . 7 129989852 rs17388190 C T NON_SYNONYMOUS_CODING CPA5 MODERATE|MISSENSE|Cct/Tct|P79S|436|CPA5|protein_coding|CODING|ENST00000466363|exon_7_129989816_129989950 . . 0/1:99:255,0,177 . 7 129989852 rs17388190 C T NON_SYNONYMOUS_CODING CPA5 MODERATE|MISSENSE|Cct/Tct|P79S|436|CPA5|protein_coding|CODING|ENST00000474905|exon_7_129989816_129989950 . . 0/1:99:255,0,177 . 7 129989852 rs17388190 C T NON_SYNONYMOUS_CODING CPA5 MODERATE|MISSENSE|Cct/Tct|P79S|436|CPA5|protein_coding|CODING|ENST00000485477|exon_7_129989816_129989950 . . 0/1:99:255,0,177 . 7 130418689 rs111400400 A G NON_SYNONYMOUS_CODING KLF14 MODERATE|MISSENSE|Tcg/Ccg|S58P|323|KLF14|protein_coding|CODING|ENST00000310992|exon_7_130417401_130418888 . . . 0/1:55:66,0,52 7 132719429 rs189455203 A T NON_SYNONYMOUS_CODING AC008038.1 MODERATE|MISSENSE|Tcc/Acc|S187T|206|AC008038.1|protein_coding|CODING|ENST00000448615|exon_7_132719291_132719869 . 0/1:99:242,0,163 . . 7 134632411 rs141179317 C T NON_SYNONYMOUS_CODING CALD1 MODERATE|MISSENSE|gCt/gTt|A301V|532|CALD1|protein_coding|CODING|ENST00000424922|exon_7_134632259_134632520 . . . 0/1:99:168,0,231 7 134632411 rs141179317 C T NON_SYNONYMOUS_CODING CALD1 MODERATE|MISSENSE|gCt/gTt|A307V|458|CALD1|protein_coding|CODING|ENST00000436461|exon_7_134632259_134632520 . . . 0/1:99:168,0,231 7 134632411 rs141179317 C T NON_SYNONYMOUS_CODING CALD1 MODERATE|MISSENSE|gCt/gTt|A307V|538|CALD1|protein_coding|CODING|ENST00000361901|exon_7_134632259_134632520 . . . 0/1:99:168,0,231 7 134632411 rs141179317 C T NON_SYNONYMOUS_CODING CALD1 MODERATE|MISSENSE|gCt/gTt|A307V|538|CALD1|protein_coding|CODING|ENST00000417172|exon_7_134632259_134632520 . . . 0/1:99:168,0,231 7 134632411 rs141179317 C T NON_SYNONYMOUS_CODING CALD1 MODERATE|MISSENSE|gCt/gTt|A312V|543|CALD1|protein_coding|CODING|ENST00000543443|exon_7_134632259_134632520 . . . 0/1:99:168,0,231 7 134632411 rs141179317 C T NON_SYNONYMOUS_CODING CALD1 MODERATE|MISSENSE|gCt/gTt|A327V|557|CALD1|protein_coding|CODING|ENST00000495522|exon_7_134632259_134632520 . . . 0/1:99:168,0,231 7 134632411 rs141179317 C T NON_SYNONYMOUS_CODING CALD1 MODERATE|MISSENSE|gCt/gTt|A327V|558|CALD1|protein_coding|CODING|ENST00000393118|exon_7_134632259_134632520 . . . 0/1:99:168,0,231 7 134632411 rs141179317 C T NON_SYNONYMOUS_CODING CALD1 MODERATE|MISSENSE|gCt/gTt|A333V|563|CALD1|protein_coding|CODING|ENST00000422748|exon_7_134632259_134632520 . . . 0/1:99:168,0,231 7 134632411 rs141179317 C T NON_SYNONYMOUS_CODING CALD1 MODERATE|MISSENSE|gCt/gTt|A333V|564|CALD1|protein_coding|CODING|ENST00000361388|exon_7_134632259_134632520 . . . 0/1:99:168,0,231 7 134632411 rs141179317 C T NON_SYNONYMOUS_CODING CALD1 MODERATE|MISSENSE|gCt/gTt|A562V|793|CALD1|protein_coding|CODING|ENST00000361675|exon_7_134632259_134632520 . . . 0/1:99:168,0,231 7 134800213 . A C NON_SYNONYMOUS_CODING AGBL3 MODERATE|MISSENSE|gAt/gCt|D731A|920|AGBL3|protein_coding|CODING|ENST00000436302|exon_7_134800132_134800363 . 0/1:99:175,0,255 . . 7 134800213 . A C NON_SYNONYMOUS_CODING AGBL3 MODERATE|MISSENSE|gAt/gCt|D786A|975|AGBL3|protein_coding|CODING|ENST00000458078|exon_7_134800132_134800363 . 0/1:99:175,0,255 . . 7 137148290 . C T NON_SYNONYMOUS_CODING DGKI MODERATE|MISSENSE|Gct/Act|A884T|1047|DGKI|protein_coding|CODING|ENST00000446122|exon_7_137148235_137148357 . . . 0/1:99:235,0,255 7 137148290 . C T NON_SYNONYMOUS_CODING DGKI MODERATE|MISSENSE|Gct/Act|A902T|1065|DGKI|protein_coding|CODING|ENST00000288490|exon_7_137148235_137148357 . . . 0/1:99:235,0,255 7 137148290 . C T NON_SYNONYMOUS_CODING DGKI MODERATE|MISSENSE|Gct/Act|A905T|1068|DGKI|protein_coding|CODING|ENST00000424189|exon_7_137148235_137148357 . . . 0/1:99:235,0,255 7 138603714 rs79731548 C G NON_SYNONYMOUS_CODING KIAA1549 MODERATE|MISSENSE|Gcg/Ccg|A170P|1884|KIAA1549|protein_coding|CODING|ENST00000242365|exon_7_138601494_138604221 . . 0/1:99:239,0,228 . 7 138603714 rs79731548 C G NON_SYNONYMOUS_CODING KIAA1549 MODERATE|MISSENSE|Gcg/Ccg|A220P|1934|KIAA1549|protein_coding|CODING|ENST00000440172|exon_7_138601494_138604184 . . 0/1:99:239,0,228 . 7 138603714 rs79731548 C G NON_SYNONYMOUS_CODING KIAA1549 MODERATE|MISSENSE|Gcg/Ccg|A220P|1950|KIAA1549|protein_coding|CODING|ENST00000422774|exon_7_138601494_138604184 . . 0/1:99:239,0,228 . 7 139102335 rs118183173 A C NON_SYNONYMOUS_CODING LUC7L2 MODERATE|MISSENSE|gaA/gaC|E284D|389|LUC7L2|protein_coding|CODING|ENST00000541170|exon_7_139102284_139102475 . 0/1:99:255,0,255 . . 7 139102335 rs118183173 A C NON_SYNONYMOUS_CODING LUC7L2 MODERATE|MISSENSE|gaA/gaC|E286D|391|LUC7L2|protein_coding|CODING|ENST00000263545|exon_7_139102284_139102475 . 0/1:99:255,0,255 . . 7 139102335 rs118183173 A C NON_SYNONYMOUS_CODING LUC7L2 MODERATE|MISSENSE|gaA/gaC|E287D|392|LUC7L2|protein_coding|CODING|ENST00000354926|exon_7_139102284_139102475 . 0/1:99:255,0,255 . . 7 139102335 rs118183173 A C NON_SYNONYMOUS_CODING LUC7L2 MODERATE|MISSENSE|gaA/gaC|E287D|392|LUC7L2|protein_coding|CODING|ENST00000545899|exon_7_139102284_139102475 . 0/1:99:255,0,255 . . 7 139102335 rs118183173 A C NON_SYNONYMOUS_CODING LUC7L2 MODERATE|MISSENSE|gaA/gaC|E353D|458|LUC7L2|protein_coding|CODING|ENST00000541515|exon_7_139102284_139102475 . 0/1:99:255,0,255 . . 7 139734069 rs35456446 C T NON_SYNONYMOUS_CODING PARP12 MODERATE|MISSENSE|Gtg/Atg|V101M|173|PARP12|protein_coding|CODING|ENST00000489809|exon_7_139734035_139734131 0/1:99:255,0,246 . . . 7 139734069 rs35456446 C T NON_SYNONYMOUS_CODING PARP12 MODERATE|MISSENSE|Gtg/Atg|V463M|701|PARP12|protein_coding|CODING|ENST00000263549|exon_7_139734035_139734131 0/1:99:255,0,246 . . . 7 139757712 rs61729681 C A NON_SYNONYMOUS_CODING PARP12 MODERATE|MISSENSE|tGg/tTg|W150L|701|PARP12|protein_coding|CODING|ENST00000263549|exon_7_139757699_139757834 . . . 0/1:99:206,0,255 7 140373254 rs140971515 C T NON_SYNONYMOUS_CODING ADCK2 MODERATE|MISSENSE|Ctt/Ttt|L42F|590|ADCK2|protein_coding|CODING|ENST00000476491|exon_7_140372953_140374063 . . 0/1:99:137,0,111 . 7 140373254 rs140971515 C T NON_SYNONYMOUS_CODING ADCK2 MODERATE|MISSENSE|Ctt/Ttt|L42F|626|ADCK2|protein_coding|CODING|ENST00000072869|exon_7_140372953_140374063 . . 0/1:99:137,0,111 . 7 141645148 rs80313390 A G NON_SYNONYMOUS_CODING CLEC5A MODERATE|MISSENSE|aTg/aCg|M9T|84|CLEC5A|protein_coding|CODING|ENST00000439991|exon_7_141645141_141645200 . . 0/1:99:255,0,227 . 7 141732659 rs201161396 C T NON_SYNONYMOUS_CODING MGAM MODERATE|MISSENSE|tCg/tTg|S417L|1661|MGAM|protein_coding|CODING|ENST00000548812|exon_7_141732625_141732709 . 0/1:99:255,0,255 . . 7 141732659 rs201161396 C T NON_SYNONYMOUS_CODING MGAM MODERATE|MISSENSE|tCg/tTg|S540L|1857|MGAM|protein_coding|CODING|ENST00000549489|exon_7_141732625_141732709 . 0/1:99:255,0,255 . . 7 141732659 rs201161396 C T NON_SYNONYMOUS_CODING MGAM MODERATE|MISSENSE|tCg/tTg|S540L|2754|MGAM|protein_coding|CODING|ENST00000475668|exon_7_141732625_141732709 . 0/1:99:255,0,255 . . 7 141776541 rs117227399 T C NON_SYNONYMOUS_CODING MGAM MODERATE|MISSENSE|aTg/aCg|M1804T|2754|MGAM|protein_coding|CODING|ENST00000475668|exon_7_141776459_141776626 . . 0/1:99:255,0,255 . 7 141872523 rs73547325 T A NON_SYNONYMOUS_CODING RP11-1220K2.2.1 MODERATE|MISSENSE|Ttg/Atg|L101M|646|RP11-1220K2.2.1|protein_coding|CODING|ENST00000550494|exon_7_141872452_141872564 0/1:99:255,0,255 . . . 7 141872523 rs73547325 T A NON_SYNONYMOUS_CODING RP11-1220K2.2.1 MODERATE|MISSENSE|Ttg/Atg|L1142M|2226|RP11-1220K2.2.1|protein_coding|CODING|ENST00000477922|exon_7_141872452_141872564 0/1:99:255,0,255 . . . 7 141889244 rs76437729 C G NON_SYNONYMOUS_CODING RP11-1220K2.2.1 MODERATE|MISSENSE|Ccc/Gcc|P1397A|2226|RP11-1220K2.2.1|protein_coding|CODING|ENST00000477922|exon_7_141889167_141889305 0/1:99:255,0,255 . . . 7 141889244 rs76437729 C G NON_SYNONYMOUS_CODING RP11-1220K2.2.1 MODERATE|MISSENSE|Ccc/Gcc|P356A|646|RP11-1220K2.2.1|protein_coding|CODING|ENST00000550494|exon_7_141889167_141889305 0/1:99:255,0,255 . . . 7 141920378 rs78860370 A T NON_SYNONYMOUS_CODING RP11-1220K2.2.1 MODERATE|MISSENSE|Aca/Tca|T1991S|2226|RP11-1220K2.2.1|protein_coding|CODING|ENST00000477922|exon_7_141919670_141921088 0/1:99:255,0,255 . . . 7 142459626 rs145867820 C T NON_SYNONYMOUS_CODING PRSS1 MODERATE|MISSENSE|Cgc/Tgc|R18C|142|PRSS1|protein_coding|CODING|ENST00000492062|exon_7_142459625_142459878 . . 0/1:59:56,0,255 . 7 142459626 rs145867820 C T NON_SYNONYMOUS_CODING PRSS1 MODERATE|MISSENSE|Cgc/Tgc|R68C|237|PRSS1|protein_coding|CODING|ENST00000529243|exon_7_142459625_142459657 . . 0/1:59:56,0,255 . 7 142459626 rs145867820 C T NON_SYNONYMOUS_CODING PRSS1 MODERATE|MISSENSE|Cgc/Tgc|R68C|247|PRSS1|protein_coding|CODING|ENST00000311737|exon_7_142459625_142459878 . . 0/1:59:56,0,255 . 7 142459626 rs145867820 C T NON_SYNONYMOUS_CODING PRSS1 MODERATE|MISSENSE|Cgc/Tgc|R82C|261|PRSS1|protein_coding|CODING|ENST00000486171|exon_7_142459625_142459878 . . 0/1:59:56,0,255 . 7 142460339 rs200973660 G A NON_SYNONYMOUS_CODING PRSS1 MODERATE|MISSENSE|tGt/tAt|C121Y|142|PRSS1|protein_coding|CODING|ENST00000492062|exon_7_142460282_142460401 . 0/1:99:140,0,255 . . 7 142460339 rs200973660 G A NON_SYNONYMOUS_CODING PRSS1 MODERATE|MISSENSE|tGt/tAt|C161Y|237|PRSS1|protein_coding|CODING|ENST00000529243|exon_7_142460282_142460418 . 0/1:99:140,0,255 . . 7 142460339 rs200973660 G A NON_SYNONYMOUS_CODING PRSS1 MODERATE|MISSENSE|tGt/tAt|C171Y|247|PRSS1|protein_coding|CODING|ENST00000311737|exon_7_142460282_142460418 . 0/1:99:140,0,255 . . 7 142460339 rs200973660 G A NON_SYNONYMOUS_CODING PRSS1 MODERATE|MISSENSE|tGt/tAt|C185Y|261|PRSS1|protein_coding|CODING|ENST00000486171|exon_7_142460282_142460418 . 0/1:99:140,0,255 . . 7 142836203 rs73170678 A T NON_SYNONYMOUS_CODING PIP MODERATE|MISSENSE|caA/caT|Q79H|146|PIP|protein_coding|CODING|ENST00000291009|exon_7_142836168_142836282 . 0/1:99:209,0,255 . . 7 142961225 . G C NON_SYNONYMOUS_CODING GSTK1 MODERATE|MISSENSE|cGg/cCg|R30P|117|GSTK1|protein_coding|CODING|ENST00000436038|exon_7_142961179_142961260 . 0/1:99:161,0,234 . . 7 142961225 . G C NON_SYNONYMOUS_CODING GSTK1 MODERATE|MISSENSE|cGg/cCg|R40P|183|GSTK1|protein_coding|CODING|ENST00000443571|exon_7_142961179_142961260 . 0/1:99:161,0,234 . . 7 142961225 . G C NON_SYNONYMOUS_CODING GSTK1 MODERATE|MISSENSE|cGg/cCg|R40P|214|GSTK1|protein_coding|CODING|ENST00000409500|exon_7_142961179_142961260 . 0/1:99:161,0,234 . . 7 142961225 . G C NON_SYNONYMOUS_CODING GSTK1 MODERATE|MISSENSE|cGg/cCg|R40P|226|GSTK1|protein_coding|CODING|ENST00000358406|exon_7_142961179_142961260 . 0/1:99:161,0,234 . . 7 142961225 . G C NON_SYNONYMOUS_CODING GSTK1 MODERATE|MISSENSE|cGg/cCg|R40P|282|GSTK1|protein_coding|CODING|ENST00000479303|exon_7_142961179_142961260 . 0/1:99:161,0,234 . . 7 143053713 rs143238060 C T NON_SYNONYMOUS_CODING FAM131B MODERATE|MISSENSE|cGg/cAg|R310Q|332|FAM131B|protein_coding|CODING|ENST00000409222|exon_7_143050915_143054115 . . 0/1:99:170,0,137 . 7 143053713 rs143238060 C T NON_SYNONYMOUS_CODING FAM131B MODERATE|MISSENSE|cGg/cAg|R310Q|332|FAM131B|protein_coding|CODING|ENST00000409346|exon_7_143050494_143054115 . . 0/1:99:170,0,137 . 7 143053713 rs143238060 C T NON_SYNONYMOUS_CODING FAM131B MODERATE|MISSENSE|cGg/cAg|R310Q|332|FAM131B|protein_coding|CODING|ENST00000409408|exon_7_143050495_143054115 . . 0/1:99:170,0,137 . 7 143053713 rs143238060 C T NON_SYNONYMOUS_CODING FAM131B MODERATE|MISSENSE|cGg/cAg|R314Q|336|FAM131B|protein_coding|CODING|ENST00000452076|exon_7_143050494_143054115 . . 0/1:99:170,0,137 . 7 143053713 rs143238060 C T NON_SYNONYMOUS_CODING FAM131B MODERATE|MISSENSE|cGg/cAg|R326Q|348|FAM131B|protein_coding|CODING|ENST00000409578|exon_7_143050494_143054115 . . 0/1:99:170,0,137 . 7 143053713 rs143238060 C T NON_SYNONYMOUS_CODING FAM131B MODERATE|MISSENSE|cGg/cAg|R338Q|360|FAM131B|protein_coding|CODING|ENST00000443739|exon_7_143050493_143054115 . . 0/1:99:170,0,137 . 7 143175345 rs10278721 C T NON_SYNONYMOUS_CODING TAS2R41 MODERATE|MISSENSE|cCa/cTa|P127L|307|TAS2R41|protein_coding|CODING|ENST00000408916|exon_7_143174966_143175889 0/1:99:255,0,208 0/1:99:255,0,248 0/1:99:220,0,214 . 7 143657427 rs2072164 C T NON_SYNONYMOUS_CODING OR2F1 MODERATE|MISSENSE|Cgc/Tgc|R122C|317|OR2F1|protein_coding|CODING|ENST00000392899|exon_7_143657027_143658108 . . . 0/1:99:177,0,255 7 143701516 rs7787378 C T NON_SYNONYMOUS_CODING OR6B1 MODERATE|MISSENSE|Cgc/Tgc|R143C|311|OR6B1|protein_coding|CODING|ENST00000408922|exon_7_143701022_143702068 . . . 0/1:99:255,0,227 7 143771557 rs61731397 T C NON_SYNONYMOUS_CODING OR2A25 MODERATE|MISSENSE|gTg/gCg|V82A|310|OR2A25|protein_coding|CODING|ENST00000408898|exon_7_143771275_143772288 . . . 0/1:99:218,0,255 7 143882697 rs145692929 A G NON_SYNONYMOUS_CODING CTAGE4 MODERATE|MISSENSE|Atc/Gtc|I701V|777|CTAGE4|protein_coding|CODING|ENST00000486333|exon_7_143880559_143883146 . . . 0/1:54:51,0,114 7 144364829 rs57405539 C T NON_SYNONYMOUS_CODING TPK1 MODERATE|MISSENSE|Gga/Aga|G54R|189|TPK1|protein_coding|CODING|ENST00000538212|exon_7_144364819_144364939 0/1:99:248,0,255 . . . 7 146536994 rs139694086 T G NON_SYNONYMOUS_CODING CNTNAP2 MODERATE|MISSENSE|Tgg/Ggg|W134G|1331|CNTNAP2|protein_coding|CODING|ENST00000361727|exon_7_146536803_146536996 . 0/1:99:255,0,255 . . 7 148921732 rs11547158 G A NON_SYNONYMOUS_CODING ZNF282 MODERATE|MISSENSE|cGa/cAa|R323Q|324|ZNF282|protein_coding|CODING|ENST00000430197|exon_7_148921274_148921739 0/1:99:255,0,181 0/1:99:188,0,212 . . 7 148921732 rs11547158 G A NON_SYNONYMOUS_CODING ZNF282 MODERATE|MISSENSE|cGa/cAa|R670Q|671|ZNF282|protein_coding|CODING|ENST00000262085|exon_7_148920904_148923339 0/1:99:255,0,181 0/1:99:188,0,212 . . 7 148936878 rs11548535 G T NON_SYNONYMOUS_CODING ZNF212 MODERATE|MISSENSE|gaG/gaT|E3D|495|ZNF212|protein_coding|CODING|ENST00000335870|exon_7_148936742_148936893 0/1:85:173,0,82 0/1:99:255,0,103 . . 7 148963652 rs61729506 C T NON_SYNONYMOUS_CODING ZNF783 MODERATE|MISSENSE|aCa/aTa|T84I|546|ZNF783|protein_coding|CODING|ENST00000434415|exon_7_148963426_148963821 . . . 0/1:99:184,0,226 7 149462381 rs112589121 C T NON_SYNONYMOUS_CODING ZNF467 MODERATE|MISSENSE|Gcc/Acc|A404T|595|ZNF467|protein_coding|CODING|ENST00000302017|exon_7_149461452_149463328 . 0/1:45:190,0,42 . . 7 149462621 rs6965332 T C NON_SYNONYMOUS_CODING ZNF467 MODERATE|MISSENSE|Acg/Gcg|T324A|595|ZNF467|protein_coding|CODING|ENST00000302017|exon_7_149461452_149463328 . . . 0/1:99:168,0,98 7 149543269 rs62621204 C T NON_SYNONYMOUS_CODING ZNF862 MODERATE|MISSENSE|Cgc/Tgc|R56C|1169|ZNF862|protein_coding|CODING|ENST00000223210|exon_7_149543240_149543344 0/1:99:235,0,150 . . . 7 149981856 rs117425825 G A NON_SYNONYMOUS_CODING ACTR3C MODERATE|MISSENSE|Cgt/Tgt|R182C|208|ACTR3C|protein_coding|CODING|ENST00000478393|exon_7_149981842_149981934 . . . 0/1:99:142,0,201 7 149981856 rs117425825 G A NON_SYNONYMOUS_CODING ACTR3C MODERATE|MISSENSE|Cgt/Tgt|R184C|210|ACTR3C|protein_coding|CODING|ENST00000252071|exon_7_149981842_149981934 . . . 0/1:99:142,0,201 7 149981856 rs117425825 G A NON_SYNONYMOUS_CODING ACTR3C MODERATE|MISSENSE|Cgt/Tgt|R184C|210|ACTR3C|protein_coding|CODING|ENST00000539352|exon_7_149981842_149981934 . . . 0/1:99:142,0,201 7 150034378 rs3735169 A G NON_SYNONYMOUS_CODING LRRC61 MODERATE|MISSENSE|aAc/aGc|N143S|259|LRRC61|protein_coding|CODING|ENST00000323078|exon_7_150033807_150035192 . 0/1:99:255,0,203 . 0/1:99:203,0,128 7 150034378 rs3735169 A G NON_SYNONYMOUS_CODING LRRC61 MODERATE|MISSENSE|aAc/aGc|N143S|259|LRRC61|protein_coding|CODING|ENST00000359623|exon_7_150033807_150035239 . 0/1:99:255,0,203 . 0/1:99:203,0,128 7 150034378 rs3735169 A G NON_SYNONYMOUS_CODING LRRC61 MODERATE|MISSENSE|aAc/aGc|N143S|259|LRRC61|protein_coding|CODING|ENST00000493307|exon_7_150033807_150034761 . 0/1:99:255,0,203 . 0/1:99:203,0,128 7 150035459 rs1047586 T G NON_SYNONYMOUS_CODING RARRES2 MODERATE|MISSENSE|Acc/Ccc|T149P|158|RARRES2|protein_coding|CODING|ENST00000467793|exon_7_150035426_150035528 . 0/1:99:230,0,255 . 0/1:90:87,0,167 7 150035500 rs1047575 C G NON_SYNONYMOUS_CODING RARRES2 MODERATE|MISSENSE|cGg/cCg|R135P|158|RARRES2|protein_coding|CODING|ENST00000467793|exon_7_150035426_150035528 . 0/1:99:147,0,255 . 0/1:92:89,0,205 7 150732812 rs17545756 C T NON_SYNONYMOUS_CODING ABCB8 MODERATE|MISSENSE|Cgc/Tgc|R216C|630|ABCB8|protein_coding|CODING|ENST00000542328|exon_7_150732668_150732829 . 0/1:99:117,0,255 . . 7 150732812 rs17545756 C T NON_SYNONYMOUS_CODING ABCB8 MODERATE|MISSENSE|Cgc/Tgc|R287C|701|ABCB8|protein_coding|CODING|ENST00000360651|exon_7_150732668_150732829 . 0/1:99:117,0,255 . . 7 150732812 rs17545756 C T NON_SYNONYMOUS_CODING ABCB8 MODERATE|MISSENSE|Cgc/Tgc|R304C|409|ABCB8|protein_coding|CODING|ENST00000477719|exon_7_150732668_150732829 . 0/1:99:117,0,255 . . 7 150732812 rs17545756 C T NON_SYNONYMOUS_CODING ABCB8 MODERATE|MISSENSE|Cgc/Tgc|R304C|431|ABCB8|protein_coding|CODING|ENST00000477092|exon_7_150732668_150732829 . 0/1:99:117,0,255 . . 7 150732812 rs17545756 C T NON_SYNONYMOUS_CODING ABCB8 MODERATE|MISSENSE|Cgc/Tgc|R304C|693|ABCB8|protein_coding|CODING|ENST00000498578|exon_7_150732668_150732829 . 0/1:99:117,0,255 . . 7 150732812 rs17545756 C T NON_SYNONYMOUS_CODING ABCB8 MODERATE|MISSENSE|Cgc/Tgc|R304C|718|ABCB8|protein_coding|CODING|ENST00000358849|exon_7_150732668_150732829 . 0/1:99:117,0,255 . . 7 150732812 rs17545756 C T NON_SYNONYMOUS_CODING ABCB8 MODERATE|MISSENSE|Cgc/Tgc|R321C|735|ABCB8|protein_coding|CODING|ENST00000297504|exon_7_150732668_150732829 . 0/1:99:117,0,255 . . 7 150732812 rs17545756 C T NON_SYNONYMOUS_CODING ABCB8 MODERATE|MISSENSE|Cgc/Tgc|R341C|467|ABCB8|protein_coding|CODING|ENST00000356058|exon_7_150732668_150732829 . 0/1:99:117,0,255 . . 7 150742408 rs59397762 G T NON_SYNONYMOUS_CODING ABCB8 MODERATE|MISSENSE|gGc/gTc|G622V|630|ABCB8|protein_coding|CODING|ENST00000542328|exon_7_150742296_150742496 . 0/1:88:85,0,255 . . 7 150742408 rs59397762 G T NON_SYNONYMOUS_CODING ABCB8 MODERATE|MISSENSE|gGc/gTc|G685V|693|ABCB8|protein_coding|CODING|ENST00000498578|exon_7_150742296_150742650 . 0/1:88:85,0,255 . . 7 150742408 rs59397762 G T NON_SYNONYMOUS_CODING ABCB8 MODERATE|MISSENSE|gGc/gTc|G693V|701|ABCB8|protein_coding|CODING|ENST00000360651|exon_7_150742296_150742649 . 0/1:88:85,0,255 . . 7 150742408 rs59397762 G T NON_SYNONYMOUS_CODING ABCB8 MODERATE|MISSENSE|gGc/gTc|G710V|718|ABCB8|protein_coding|CODING|ENST00000358849|exon_7_150742296_150744869 . 0/1:88:85,0,255 . . 7 150742408 rs59397762 G T NON_SYNONYMOUS_CODING ABCB8 MODERATE|MISSENSE|gGc/gTc|G727V|735|ABCB8|protein_coding|CODING|ENST00000297504|exon_7_150742296_150742649 . 0/1:88:85,0,255 . . 7 150761314 rs2303929 G A NON_SYNONYMOUS_CODING SLC4A2 MODERATE|MISSENSE|gGg/gAg|G12E|1227|SLC4A2|protein_coding|CODING|ENST00000461735|exon_7_150761289_150761454 0/1:99:140,0,168 0/1:99:172,0,248 . 0/1:99:108,0,198 7 150761314 rs2303929 G A NON_SYNONYMOUS_CODING SLC4A2 MODERATE|MISSENSE|gGg/gAg|G17E|1232|SLC4A2|protein_coding|CODING|ENST00000392826|exon_7_150761289_150761454 0/1:99:140,0,168 0/1:99:172,0,248 . 0/1:99:108,0,198 7 150761314 rs2303929 G A NON_SYNONYMOUS_CODING SLC4A2 MODERATE|MISSENSE|gGg/gAg|G26E|1241|SLC4A2|protein_coding|CODING|ENST00000413384|exon_7_150761289_150761454 0/1:99:140,0,168 0/1:99:172,0,248 . 0/1:99:108,0,198 7 150761314 rs2303929 G A NON_SYNONYMOUS_CODING SLC4A2 MODERATE|MISSENSE|gGg/gAg|G26E|1241|SLC4A2|protein_coding|CODING|ENST00000485713|exon_7_150761289_150761454 0/1:99:140,0,168 0/1:99:172,0,248 . 0/1:99:108,0,198 7 150761314 rs2303929 G A NON_SYNONYMOUS_CODING SLC4A2 MODERATE|MISSENSE|gGg/gAg|G26E|126|SLC4A2|protein_coding|CODING|ENST00000482950|exon_7_150761289_150761454 0/1:99:140,0,168 0/1:99:172,0,248 . 0/1:99:108,0,198 7 150761314 rs2303929 G A NON_SYNONYMOUS_CODING SLC4A2 MODERATE|MISSENSE|gGg/gAg|G26E|144|SLC4A2|protein_coding|CODING|ENST00000483786|exon_7_150761289_150761454 0/1:99:140,0,168 0/1:99:172,0,248 . 0/1:99:108,0,198 7 150761314 rs2303929 G A NON_SYNONYMOUS_CODING SLC4A2 MODERATE|MISSENSE|gGg/gAg|G26E|149|SLC4A2|protein_coding|CODING|ENST00000463414|exon_7_150761289_150761454 0/1:99:140,0,168 0/1:99:172,0,248 . 0/1:99:108,0,198 7 150761314 rs2303929 G A NON_SYNONYMOUS_CODING SLC4A2 MODERATE|MISSENSE|gGg/gAg|G26E|168|SLC4A2|protein_coding|CODING|ENST00000490898|exon_7_150761289_150761454 0/1:99:140,0,168 0/1:99:172,0,248 . 0/1:99:108,0,198 7 150761314 rs2303929 G A NON_SYNONYMOUS_CODING SLC4A2 MODERATE|MISSENSE|gGg/gAg|G26E|69|SLC4A2|protein_coding|CODING|ENST00000488420|exon_7_150761289_150761448 0/1:99:140,0,168 0/1:99:172,0,248 . 0/1:99:108,0,198 7 150837147 . G A NON_SYNONYMOUS_CODING AGAP3 MODERATE|MISSENSE|cGg/cAg|R547Q|875|AGAP3|protein_coding|CODING|ENST00000335355|exon_7_150837066_150837203 . 0/1:99:236,0,210 . . 7 150837147 . G A NON_SYNONYMOUS_CODING AGAP3 MODERATE|MISSENSE|cGg/cAg|R583Q|911|AGAP3|protein_coding|CODING|ENST00000397238|exon_7_150837066_150837203 . 0/1:99:236,0,210 . . 7 150837147 . G A NON_SYNONYMOUS_CODING AGAP3 MODERATE|MISSENSE|cGg/cAg|R82Q|410|AGAP3|protein_coding|CODING|ENST00000397232|exon_7_150837066_150837203 . 0/1:99:236,0,210 . . 7 151042447 rs61734185 G T NON_SYNONYMOUS_CODING NUB1 MODERATE|MISSENSE|aaG/aaT|K28N|625|NUB1|protein_coding|CODING|ENST00000413040|exon_7_151042434_151042552 . . 0/1:99:255,0,255 . 7 151042447 rs61734185 G T NON_SYNONYMOUS_CODING NUB1 MODERATE|MISSENSE|aaG/aaT|K28N|639|NUB1|protein_coding|CODING|ENST00000568733|exon_7_151042434_151042552 . . 0/1:99:255,0,255 . 7 151042447 rs61734185 G T NON_SYNONYMOUS_CODING NUB1 MODERATE|MISSENSE|aaG/aaT|K4N|153|NUB1|protein_coding|CODING|ENST00000470229|exon_7_151042434_151042552 . . 0/1:99:255,0,255 . 7 151042447 rs61734185 G T NON_SYNONYMOUS_CODING NUB1 MODERATE|MISSENSE|aaG/aaT|K4N|164|NUB1|protein_coding|CODING|ENST00000490215|exon_7_151042434_151042552 . . 0/1:99:255,0,255 . 7 151042447 rs61734185 G T NON_SYNONYMOUS_CODING NUB1 MODERATE|MISSENSE|aaG/aaT|K4N|253|NUB1|protein_coding|CODING|ENST00000483358|exon_7_151042431_151042552 . . 0/1:99:255,0,255 . 7 151042447 rs61734185 G T NON_SYNONYMOUS_CODING NUB1 MODERATE|MISSENSE|aaG/aaT|K4N|601|NUB1|protein_coding|CODING|ENST00000566856|exon_7_151042434_151042552 . . 0/1:99:255,0,255 . 7 151042447 rs61734185 G T NON_SYNONYMOUS_CODING NUB1 MODERATE|MISSENSE|aaG/aaT|K4N|615|NUB1|protein_coding|CODING|ENST00000355851|exon_7_151042434_151042552 . . 0/1:99:255,0,255 . 7 154677433 . A G NON_SYNONYMOUS_CODING DPP6 MODERATE|MISSENSE|Ata/Gta|I635V|758|DPP6|protein_coding|CODING|ENST00000427557|exon_7_154677343_154677454 0/1:99:226,0,255 . . . 7 154677433 . A G NON_SYNONYMOUS_CODING DPP6 MODERATE|MISSENSE|Ata/Gta|I678V|801|DPP6|protein_coding|CODING|ENST00000404039|exon_7_154677343_154677454 0/1:99:226,0,255 . . . 7 154677433 . A G NON_SYNONYMOUS_CODING DPP6 MODERATE|MISSENSE|Ata/Gta|I680V|803|DPP6|protein_coding|CODING|ENST00000332007|exon_7_154677343_154677454 0/1:99:226,0,255 . . . 7 154677433 . A G NON_SYNONYMOUS_CODING DPP6 MODERATE|MISSENSE|Ata/Gta|I742V|865|DPP6|protein_coding|CODING|ENST00000377770|exon_7_154677343_154677454 0/1:99:226,0,255 . . . 7 155150460 rs3923204 G T NON_SYNONYMOUS_CODING BLACE MODERATE|MISSENSE|Ctc/Atc|L139I|179|BLACE|protein_coding|CODING|ENST00000378120|exon_7_155149680_155151475 0/1:99:192,0,153 . . . 7 156432793 rs76141520 A T NON_SYNONYMOUS_CODING C7orf13 MODERATE|MISSENSE|Tgt/Agt|C186S|216|C7orf13|protein_coding|CODING|ENST00000333319|exon_7_156431057_156433348 . 0/1:99:145,0,145 . . 7 158528258 rs145653899 G A NON_SYNONYMOUS_CODING ESYT2 MODERATE|MISSENSE|aCg/aTg|T276M|328|ESYT2|protein_coding|CODING|ENST00000435514|exon_7_158528194_158528299 . 0/1:99:254,0,248 . . 7 158528258 rs145653899 G A NON_SYNONYMOUS_CODING ESYT2 MODERATE|MISSENSE|aCg/aTg|T832M|884|ESYT2|protein_coding|CODING|ENST00000275418|exon_7_158528194_158528299 . 0/1:99:254,0,248 . . 7 158528258 rs145653899 G A NON_SYNONYMOUS_CODING ESYT2 MODERATE|MISSENSE|aCg/aTg|T841M|893|ESYT2|protein_coding|CODING|ENST00000251527|exon_7_158528194_158528299 . 0/1:99:254,0,248 . . 7 158528258 rs145653899 G A NON_SYNONYMOUS_CODING ESYT2 MODERATE|MISSENSE|aCg/aTg|T890M|942|ESYT2|protein_coding|CODING|ENST00000421679|exon_7_158528194_158528299 . 0/1:99:254,0,248 . . 7 158622197 . C A NON_SYNONYMOUS_CODING ESYT2 MODERATE|MISSENSE|aGg/aTg|R75M|942|ESYT2|protein_coding|CODING|ENST00000421679|exon_7_158622132_158622198 0/1:56:53,0,114 . . . 7 158622197 . C A NON_SYNONYMOUS_CODING ESYT2 MODERATE|MISSENSE|gaG/gaT|E19D|893|ESYT2|protein_coding|CODING|ENST00000251527|exon_7_158621780_158622319 0/1:56:53,0,114 . . . 8 196274 rs2072174 T G NON_SYNONYMOUS_CODING ZNF596 MODERATE|MISSENSE|gTa/gGa|V406G|434|ZNF596|protein_coding|CODING|ENST00000320552|exon_8_195197_196362 1/1:99:255,111,0 . . . 8 196274 rs2072174 T G NON_SYNONYMOUS_CODING ZNF596 MODERATE|MISSENSE|gTa/gGa|V476G|504|ZNF596|protein_coding|CODING|ENST00000308811|exon_8_195154_197342 1/1:99:255,111,0 . . . 8 196274 rs2072174 T G NON_SYNONYMOUS_CODING ZNF596 MODERATE|MISSENSE|gTa/gGa|V476G|504|ZNF596|protein_coding|CODING|ENST00000398612|exon_8_195154_197332 1/1:99:255,111,0 . . . 8 381344 rs28438773 C G NON_SYNONYMOUS_CODING FBXO25 MODERATE|MISSENSE|atC/atG|I46M|123|FBXO25|protein_coding|CODING|ENST00000518240|exon_8_381341_381444 . . 0/1:99:255,0,255 . 8 381344 rs28438773 C G NON_SYNONYMOUS_CODING FBXO25 MODERATE|MISSENSE|atC/atG|I46M|330|FBXO25|protein_coding|CODING|ENST00000447233|exon_8_381341_381444 . . 0/1:99:255,0,255 . 8 381344 rs28438773 C G NON_SYNONYMOUS_CODING FBXO25 MODERATE|MISSENSE|atC/atG|I46M|358|FBXO25|protein_coding|CODING|ENST00000350302|exon_8_381341_381444 . . 0/1:99:255,0,255 . 8 381344 rs28438773 C G NON_SYNONYMOUS_CODING FBXO25 MODERATE|MISSENSE|atC/atG|I46M|367|FBXO25|protein_coding|CODING|ENST00000276326|exon_8_381341_381444 . . 0/1:99:255,0,255 . 8 385667 rs200299799 G A NON_SYNONYMOUS_CODING FBXO25 MODERATE|MISSENSE|aGt/aAt|S114N|123|FBXO25|protein_coding|CODING|ENST00000518240|exon_8_385615_385700 0/1:99:159,0,155 . . . 8 385667 rs200299799 G A NON_SYNONYMOUS_CODING FBXO25 MODERATE|MISSENSE|aGt/aAt|S114N|330|FBXO25|protein_coding|CODING|ENST00000447233|exon_8_385615_385707 0/1:99:159,0,155 . . . 8 385667 rs200299799 G A NON_SYNONYMOUS_CODING FBXO25 MODERATE|MISSENSE|aGt/aAt|S114N|358|FBXO25|protein_coding|CODING|ENST00000350302|exon_8_385615_385707 0/1:99:159,0,155 . . . 8 385667 rs200299799 G A NON_SYNONYMOUS_CODING FBXO25 MODERATE|MISSENSE|aGt/aAt|S114N|367|FBXO25|protein_coding|CODING|ENST00000276326|exon_8_385615_385707 0/1:99:159,0,155 . . . 8 385667 rs200299799 G A NON_SYNONYMOUS_CODING FBXO25 MODERATE|MISSENSE|aGt/aAt|S47N|291|FBXO25|protein_coding|CODING|ENST00000352684|exon_8_385615_385707 0/1:99:159,0,155 . . . 8 385667 rs200299799 G A NON_SYNONYMOUS_CODING FBXO25 MODERATE|MISSENSE|aGt/aAt|S47N|291|FBXO25|protein_coding|CODING|ENST00000382824|exon_8_385615_385707 0/1:99:159,0,155 . . . 8 623906 rs118014343 C T NON_SYNONYMOUS_CODING ERICH1 MODERATE|MISSENSE|cGa/cAa|R149Q|422|ERICH1|protein_coding|CODING|ENST00000543819|exon_8_623289_624047 . . . 0/1:99:255,0,237 8 623906 rs118014343 C T NON_SYNONYMOUS_CODING ERICH1 MODERATE|MISSENSE|cGa/cAa|R149Q|443|ERICH1|protein_coding|CODING|ENST00000262109|exon_8_623289_624047 . . . 0/1:99:255,0,237 8 623906 rs118014343 C T NON_SYNONYMOUS_CODING ERICH1 MODERATE|MISSENSE|cGa/cAa|R55Q|345|ERICH1|protein_coding|CODING|ENST00000522706|exon_8_623289_624047 . . . 0/1:99:255,0,237 8 1950591 . C A NON_SYNONYMOUS_CODING KBTBD11 MODERATE|MISSENSE|gaC/gaA|D411E|623|KBTBD11|protein_coding|CODING|ENST00000320248|exon_8_1948451_1955102 . 0/1:27:59,0,24 . . 8 2000428 rs35022521 G T NON_SYNONYMOUS_CODING MYOM2 MODERATE|MISSENSE|aGc/aTc|S87I|1465|MYOM2|protein_coding|CODING|ENST00000262113|exon_8_2000276_2000431 0/1:99:211,0,255 . . . 8 7272540 . C A NON_SYNONYMOUS_CODING DEFB4B MODERATE|MISSENSE|agG/agT|R46S|64|DEFB4B|protein_coding|CODING|ENST00000318157|exon_8_7272382_7272619 0/1:72:70,0,78 . . . 8 7332563 rs200740890 T C NON_SYNONYMOUS_CODING DEFB104B MODERATE|MISSENSE|Att/Gtt|I10V|72|DEFB104B|protein_coding|CODING|ENST00000316169|exon_8_7332533_7332604 . 1/1:45:79,24,0 . . 8 8175828 . T C NON_SYNONYMOUS_CODING PRAGMIN.1 MODERATE|MISSENSE|Atg/Gtg|M1353V|1402|PRAGMIN.1|protein_coding|CODING|ENST00000330777|exon_8_8175258_8176818 . 0/1:99:240,0,252 . . 8 8175828 . T C NON_SYNONYMOUS_CODING PRAGMIN.1 MODERATE|MISSENSE|Atg/Gtg|M1353V|1402|PRAGMIN.1|protein_coding|CODING|ENST00000520004|exon_8_8175259_8176818 . 0/1:99:240,0,252 . . 8 8185746 rs56215812 T C NON_SYNONYMOUS_CODING PRAGMIN.1 MODERATE|MISSENSE|cAc/cGc|H849R|1402|PRAGMIN.1|protein_coding|CODING|ENST00000330777|exon_8_8185226_8185977 . 0/1:99:196,0,241 . . 8 8185746 rs56215812 T C NON_SYNONYMOUS_CODING PRAGMIN.1 MODERATE|MISSENSE|cAc/cGc|H849R|1402|PRAGMIN.1|protein_coding|CODING|ENST00000520004|exon_8_8185226_8185977 . 0/1:99:196,0,241 . . 8 8234627 rs202154739 A T NON_SYNONYMOUS_CODING PRAGMIN.1 MODERATE|MISSENSE|aTa/aAa|I431K|1402|PRAGMIN.1|protein_coding|CODING|ENST00000330777|exon_8_8233763_8235588 . 0/1:99:255,0,164 . . 8 8234627 rs202154739 A T NON_SYNONYMOUS_CODING PRAGMIN.1 MODERATE|MISSENSE|aTa/aAa|I431K|1402|PRAGMIN.1|protein_coding|CODING|ENST00000520004|exon_8_8233763_8235588 . 0/1:99:255,0,164 . . 8 8235463 . A C NON_SYNONYMOUS_CODING PRAGMIN.1 MODERATE|MISSENSE|aaT/aaG|N152K|1402|PRAGMIN.1|protein_coding|CODING|ENST00000330777|exon_8_8233763_8235588 0/1:99:214,0,157 . . . 8 8235463 . A C NON_SYNONYMOUS_CODING PRAGMIN.1 MODERATE|MISSENSE|aaT/aaG|N152K|1402|PRAGMIN.1|protein_coding|CODING|ENST00000520004|exon_8_8233763_8235588 0/1:99:214,0,157 . . . 8 10383231 rs79049699 C G NON_SYNONYMOUS_CODING PRSS55 MODERATE|MISSENSE|Ccc/Gcc|P46A|276|PRSS55|protein_coding|CODING|ENST00000522210|exon_8_10383056_10383249 0/1:99:169,0,186 . . . 8 10383231 rs79049699 C G NON_SYNONYMOUS_CODING PRSS55 MODERATE|MISSENSE|Ccc/Gcc|P46A|352|PRSS55|protein_coding|CODING|ENST00000328655|exon_8_10383056_10383249 0/1:99:169,0,186 . . . 8 10465012 rs75797924 G A NON_SYNONYMOUS_CODING RP1L1 MODERATE|MISSENSE|cCa/cTa|P2199L|2400|RP1L1|protein_coding|CODING|ENST00000382483|exon_8_10463859_10470856 . . 0/1:99:255,0,201 . 8 10465063 rs183570817 G T NON_SYNONYMOUS_CODING RP1L1 MODERATE|MISSENSE|gCc/gAc|A2182D|2400|RP1L1|protein_coding|CODING|ENST00000382483|exon_8_10463859_10470856 . . . 0/1:99:97,0,239 8 10465942 rs28446662 T A NON_SYNONYMOUS_CODING RP1L1 MODERATE|MISSENSE|gAt/gTt|D1889V|2400|RP1L1|protein_coding|CODING|ENST00000382483|exon_8_10463859_10470856 . 1/1:99:255,54,0 . 0/1:99:191,0,150 8 10467578 . TTTCTT TTT CODON_DELETION RP1L1 MODERATE||aaagaa/aaa|KE1342K|2400|RP1L1|protein_coding|CODING|ENST00000382483|exon_8_10463859_10470856 . . . 0/1:99:119,0,184 8 11204911 . C T NON_SYNONYMOUS_CODING AF131216.5.1 MODERATE|MISSENSE|Gaa/Aaa|E21K|57|AF131216.5.1|protein_coding|CODING|ENST00000525867|exon_8_11204806_11205011 0/1:92:89,0,163 . . . 8 11301733 rs147319341 G A NON_SYNONYMOUS_CODING FAM167A MODERATE|MISSENSE|cCg/cTg|P63L|214|FAM167A|protein_coding|CODING|ENST00000284486|exon_8_11301540_11302317 . 0/1:99:191,0,163 . . 8 11301733 rs147319341 G A NON_SYNONYMOUS_CODING FAM167A MODERATE|MISSENSE|cCg/cTg|P63L|214|FAM167A|protein_coding|CODING|ENST00000528897|exon_8_11301540_11302317 . 0/1:99:191,0,163 . . 8 11301733 rs147319341 G A NON_SYNONYMOUS_CODING FAM167A MODERATE|MISSENSE|cCg/cTg|P63L|214|FAM167A|protein_coding|CODING|ENST00000534308|exon_8_11301540_11302395 . 0/1:99:191,0,163 . . 8 11301733 rs147319341 G A NON_SYNONYMOUS_CODING FAM167A MODERATE|MISSENSE|cCg/cTg|P63L|90|FAM167A|protein_coding|CODING|ENST00000531804|exon_8_11301647_11302317 . 0/1:99:191,0,163 . . 8 11637276 rs8191613 G A NON_SYNONYMOUS_CODING NEIL2 MODERATE|MISSENSE|cGg/cAg|R103Q|163|NEIL2|protein_coding|CODING|ENST00000530433|exon_8_11637107_11637461 . 0/1:99:188,0,195 . . 8 11637276 rs8191613 G A NON_SYNONYMOUS_CODING NEIL2 MODERATE|MISSENSE|cGg/cAg|R103Q|332|NEIL2|protein_coding|CODING|ENST00000284503|exon_8_11637107_11637459 . 0/1:99:188,0,195 . . 8 11637276 rs8191613 G A NON_SYNONYMOUS_CODING NEIL2 MODERATE|MISSENSE|cGg/cAg|R103Q|332|NEIL2|protein_coding|CODING|ENST00000436750|exon_8_11637107_11637459 . 0/1:99:188,0,195 . . 8 11637276 rs8191613 G A NON_SYNONYMOUS_CODING NEIL2 MODERATE|MISSENSE|cGg/cAg|R103Q|332|NEIL2|protein_coding|CODING|ENST00000455213|exon_8_11637107_11637459 . 0/1:99:188,0,195 . . 8 11637276 rs8191613 G A NON_SYNONYMOUS_CODING NEIL2 MODERATE|MISSENSE|cGg/cAg|R42Q|271|NEIL2|protein_coding|CODING|ENST00000403422|exon_8_11637107_11637459 . 0/1:99:188,0,195 . . 8 11637276 rs8191613 G A NON_SYNONYMOUS_CODING NEIL2 MODERATE|MISSENSE|cGg/cAg|R88Q|317|NEIL2|protein_coding|CODING|ENST00000382309|exon_8_11637254_11637459 . 0/1:99:188,0,195 . . 8 11643553 rs8191664 G T NON_SYNONYMOUS_CODING NEIL2 MODERATE|MISSENSE|cGg/cTg|R141L|216|NEIL2|protein_coding|CODING|ENST00000528323|exon_8_11643472_11643883 . 0/1:99:179,0,255 . . 8 11643553 rs8191664 G T NON_SYNONYMOUS_CODING NEIL2 MODERATE|MISSENSE|cGg/cTg|R196L|271|NEIL2|protein_coding|CODING|ENST00000403422|exon_8_11643472_11644854 . 0/1:99:179,0,255 . . 8 11643553 rs8191664 G T NON_SYNONYMOUS_CODING NEIL2 MODERATE|MISSENSE|cGg/cTg|R242L|317|NEIL2|protein_coding|CODING|ENST00000382309|exon_8_11643472_11644854 . 0/1:99:179,0,255 . . 8 11643553 rs8191664 G T NON_SYNONYMOUS_CODING NEIL2 MODERATE|MISSENSE|cGg/cTg|R257L|332|NEIL2|protein_coding|CODING|ENST00000284503|exon_8_11643472_11644855 . 0/1:99:179,0,255 . . 8 11643553 rs8191664 G T NON_SYNONYMOUS_CODING NEIL2 MODERATE|MISSENSE|cGg/cTg|R257L|332|NEIL2|protein_coding|CODING|ENST00000436750|exon_8_11643472_11644854 . 0/1:99:179,0,255 . . 8 11643553 rs8191664 G T NON_SYNONYMOUS_CODING NEIL2 MODERATE|MISSENSE|cGg/cTg|R257L|332|NEIL2|protein_coding|CODING|ENST00000455213|exon_8_11643472_11644849 . 0/1:99:179,0,255 . . 8 11995383 rs201233406 T A NON_SYNONYMOUS_CODING USP17L2 MODERATE|MISSENSE|cAa/cTa|Q296L|530|USP17L2|protein_coding|CODING|ENST00000333796|exon_8_11994677_11996586 . 1/1:27:152,15,0 . . 8 11995785 rs202050503 T A NON_SYNONYMOUS_CODING USP17L2 MODERATE|MISSENSE|cAt/cTt|H162L|530|USP17L2|protein_coding|CODING|ENST00000333796|exon_8_11994677_11996586 1/1:47:163,25,0 . . . 8 12423586 . A G NON_SYNONYMOUS_CODING AC130352.1 MODERATE|MISSENSE|aAt/aGt|N129S|149|AC130352.1|protein_coding|CODING|ENST00000357132|exon_8_12423395_12424423 . 0/1:99:212,0,255 . . 8 12848359 rs77826707 A G NON_SYNONYMOUS_CODING AC135352.1 MODERATE|MISSENSE|Aga/Gga|R91G|121|AC135352.1|protein_coding|CODING|ENST00000445495|exon_8_12848343_12848509 . 0/1:99:255,0,255 . . 8 13356621 rs34591797 T G NON_SYNONYMOUS_CODING DLC1 MODERATE|MISSENSE|caA/caC|Q320H|1528|DLC1|protein_coding|CODING|ENST00000276297|exon_8_13356558_13357705 0/1:99:203,0,229 . . . 8 13356621 rs34591797 T G NON_SYNONYMOUS_CODING DLC1 MODERATE|MISSENSE|caA/caC|Q320H|463|DLC1|protein_coding|CODING|ENST00000511869|exon_8_13356558_13357705 0/1:99:203,0,229 . . . 8 13356621 rs34591797 T G NON_SYNONYMOUS_CODING DLC1 MODERATE|MISSENSE|caA/caC|Q320H|498|DLC1|protein_coding|CODING|ENST00000316609|exon_8_13356558_13357705 0/1:99:203,0,229 . . . 8 13424917 . TAAGAAGAAGA TAAGAAGA CODON_CHANGE_PLUS_CODON_DELETION C8orf48 MODERATE||aagacg/acg|KT142T|319|C8orf48|protein_coding|CODING|ENST00000297324|exon_8_13424352_13425796 . . 0/1:99:202,0,255 . 8 17500162 rs35346456 T A NON_SYNONYMOUS_CODING PDGFRL MODERATE|MISSENSE|aTc/aAc|I327N|375|PDGFRL|protein_coding|CODING|ENST00000251630|exon_8_17500122_17500616 . 0/1:99:255,0,189 . . 8 17500162 rs35346456 T A NON_SYNONYMOUS_CODING PDGFRL MODERATE|MISSENSE|aTc/aAc|I327N|375|PDGFRL|protein_coding|CODING|ENST00000398074|exon_8_17500122_17500616 . 0/1:99:255,0,189 . . 8 17500162 rs35346456 T A NON_SYNONYMOUS_CODING PDGFRL MODERATE|MISSENSE|aTc/aAc|I327N|375|PDGFRL|protein_coding|CODING|ENST00000541323|exon_8_17500122_17500642 . 0/1:99:255,0,189 . . 8 17510766 rs61733705 C G NON_SYNONYMOUS_CODING MTUS1 MODERATE|MISSENSE|Gaa/Caa|E1051Q|1216|MTUS1|protein_coding|CODING|ENST00000381869|exon_8_17510695_17510790 . 0/1:99:255,0,255 . . 8 17510766 rs61733705 C G NON_SYNONYMOUS_CODING MTUS1 MODERATE|MISSENSE|Gaa/Caa|E1051Q|1216|MTUS1|protein_coding|CODING|ENST00000519263|exon_8_17510695_17510790 . 0/1:99:255,0,255 . . 8 17510766 rs61733705 C G NON_SYNONYMOUS_CODING MTUS1 MODERATE|MISSENSE|Gaa/Caa|E1105Q|1270|MTUS1|protein_coding|CODING|ENST00000262102|exon_8_17510695_17510790 . 0/1:99:255,0,255 . . 8 17510766 rs61733705 C G NON_SYNONYMOUS_CODING MTUS1 MODERATE|MISSENSE|Gaa/Caa|E177Q|342|MTUS1|protein_coding|CODING|ENST00000400046|exon_8_17510695_17510790 . 0/1:99:255,0,255 . . 8 17510766 rs61733705 C G NON_SYNONYMOUS_CODING MTUS1 MODERATE|MISSENSE|Gaa/Caa|E250Q|415|MTUS1|protein_coding|CODING|ENST00000544260|exon_8_17510695_17510790 . 0/1:99:255,0,255 . . 8 17510766 rs61733705 C G NON_SYNONYMOUS_CODING MTUS1 MODERATE|MISSENSE|Gaa/Caa|E271Q|436|MTUS1|protein_coding|CODING|ENST00000297488|exon_8_17510695_17510790 . 0/1:99:255,0,255 . . 8 17510766 rs61733705 C G NON_SYNONYMOUS_CODING MTUS1 MODERATE|MISSENSE|Gaa/Caa|E352Q|517|MTUS1|protein_coding|CODING|ENST00000381861|exon_8_17510695_17510790 . 0/1:99:255,0,255 . . 8 17541943 rs61748836 T G NON_SYNONYMOUS_CODING MTUS1 MODERATE|MISSENSE|aAa/aCa|K158T|517|MTUS1|protein_coding|CODING|ENST00000381861|exon_8_17541837_17542051 . 0/1:99:255,0,255 . . 8 17541943 rs61748836 T G NON_SYNONYMOUS_CODING MTUS1 MODERATE|MISSENSE|aAa/aCa|K56T|415|MTUS1|protein_coding|CODING|ENST00000544260|exon_8_17541837_17542051 . 0/1:99:255,0,255 . . 8 17541943 rs61748836 T G NON_SYNONYMOUS_CODING MTUS1 MODERATE|MISSENSE|aAa/aCa|K77T|436|MTUS1|protein_coding|CODING|ENST00000297488|exon_8_17541837_17542051 . 0/1:99:255,0,255 . . 8 17541943 rs61748836 T G NON_SYNONYMOUS_CODING MTUS1 MODERATE|MISSENSE|aAa/aCa|K857T|1216|MTUS1|protein_coding|CODING|ENST00000381869|exon_8_17541837_17542051 . 0/1:99:255,0,255 . . 8 17541943 rs61748836 T G NON_SYNONYMOUS_CODING MTUS1 MODERATE|MISSENSE|aAa/aCa|K857T|1216|MTUS1|protein_coding|CODING|ENST00000519263|exon_8_17541837_17542051 . 0/1:99:255,0,255 . . 8 17541943 rs61748836 T G NON_SYNONYMOUS_CODING MTUS1 MODERATE|MISSENSE|aAa/aCa|K911T|1270|MTUS1|protein_coding|CODING|ENST00000262102|exon_8_17541837_17542051 . 0/1:99:255,0,255 . . 8 17611387 rs144780663 T G NON_SYNONYMOUS_CODING MTUS1 MODERATE|MISSENSE|Aaa/Caa|K644Q|1216|MTUS1|protein_coding|CODING|ENST00000381869|exon_8_17611226_17613470 . . . 0/1:99:226,0,255 8 17611387 rs144780663 T G NON_SYNONYMOUS_CODING MTUS1 MODERATE|MISSENSE|Aaa/Caa|K644Q|1216|MTUS1|protein_coding|CODING|ENST00000519263|exon_8_17611226_17613490 . . . 0/1:99:226,0,255 8 17611387 rs144780663 T G NON_SYNONYMOUS_CODING MTUS1 MODERATE|MISSENSE|Aaa/Caa|K644Q|1270|MTUS1|protein_coding|CODING|ENST00000262102|exon_8_17611226_17613470 . . . 0/1:99:226,0,255 8 17611387 rs144780663 T G NON_SYNONYMOUS_CODING MTUS1 MODERATE|MISSENSE|Aaa/Caa|K644Q|770|MTUS1|protein_coding|CODING|ENST00000381862|exon_8_17611226_17613470 . . . 0/1:99:226,0,255 8 17612694 rs73206291 C G NON_SYNONYMOUS_CODING MTUS1 MODERATE|MISSENSE|tGg/tCg|W208S|1216|MTUS1|protein_coding|CODING|ENST00000381869|exon_8_17611226_17613470 . 0/1:99:210,0,255 . . 8 17612694 rs73206291 C G NON_SYNONYMOUS_CODING MTUS1 MODERATE|MISSENSE|tGg/tCg|W208S|1216|MTUS1|protein_coding|CODING|ENST00000519263|exon_8_17611226_17613490 . 0/1:99:210,0,255 . . 8 17612694 rs73206291 C G NON_SYNONYMOUS_CODING MTUS1 MODERATE|MISSENSE|tGg/tCg|W208S|1270|MTUS1|protein_coding|CODING|ENST00000262102|exon_8_17611226_17613470 . 0/1:99:210,0,255 . . 8 17612694 rs73206291 C G NON_SYNONYMOUS_CODING MTUS1 MODERATE|MISSENSE|tGg/tCg|W208S|770|MTUS1|protein_coding|CODING|ENST00000381862|exon_8_17611226_17613470 . 0/1:99:210,0,255 . . 8 17612760 rs141609607 G C NON_SYNONYMOUS_CODING MTUS1 MODERATE|MISSENSE|aCt/aGt|T186S|1216|MTUS1|protein_coding|CODING|ENST00000381869|exon_8_17611226_17613470 0/1:99:255,0,255 . . . 8 17612760 rs141609607 G C NON_SYNONYMOUS_CODING MTUS1 MODERATE|MISSENSE|aCt/aGt|T186S|1216|MTUS1|protein_coding|CODING|ENST00000519263|exon_8_17611226_17613490 0/1:99:255,0,255 . . . 8 17612760 rs141609607 G C NON_SYNONYMOUS_CODING MTUS1 MODERATE|MISSENSE|aCt/aGt|T186S|1270|MTUS1|protein_coding|CODING|ENST00000262102|exon_8_17611226_17613470 0/1:99:255,0,255 . . . 8 17612760 rs141609607 G C NON_SYNONYMOUS_CODING MTUS1 MODERATE|MISSENSE|aCt/aGt|T186S|770|MTUS1|protein_coding|CODING|ENST00000381862|exon_8_17611226_17613470 0/1:99:255,0,255 . . . 8 17942204 rs13263632 C T NON_SYNONYMOUS_CODING ASAH1 MODERATE|MISSENSE|aGc/aAc|S36N|389|ASAH1|protein_coding|CODING|ENST00000314146|exon_8_17942185_17942494 . . 0/1:99:246,0,222 . 8 17942204 rs13263632 C T NON_SYNONYMOUS_CODING ASAH1 MODERATE|MISSENSE|aGc/aAc|S36N|411|ASAH1|protein_coding|CODING|ENST00000381733|exon_8_17942185_17942477 . . 0/1:99:246,0,222 . 8 18080001 rs4987076 G A NON_SYNONYMOUS_CODING NAT1 MODERATE|MISSENSE|Gtc/Atc|V149I|290|NAT1|protein_coding|CODING|ENST00000307719|exon_8_18079551_18081198 . . 0/1:99:255,0,255 . 8 18080001 rs4987076 G A NON_SYNONYMOUS_CODING NAT1 MODERATE|MISSENSE|Gtc/Atc|V149I|290|NAT1|protein_coding|CODING|ENST00000517492|exon_8_18079551_18081198 . . 0/1:99:255,0,255 . 8 18080001 rs4987076 G A NON_SYNONYMOUS_CODING NAT1 MODERATE|MISSENSE|Gtc/Atc|V149I|290|NAT1|protein_coding|CODING|ENST00000518029|exon_8_18079551_18081198 . . 0/1:99:255,0,255 . 8 18080001 rs4987076 G A NON_SYNONYMOUS_CODING NAT1 MODERATE|MISSENSE|Gtc/Atc|V149I|290|NAT1|protein_coding|CODING|ENST00000520546|exon_8_18079286_18080731 . . 0/1:99:255,0,255 . 8 18080001 rs4987076 G A NON_SYNONYMOUS_CODING NAT1 MODERATE|MISSENSE|Gtc/Atc|V149I|290|NAT1|protein_coding|CODING|ENST00000535084|exon_8_18079551_18081197 . . 0/1:99:255,0,255 . 8 18080001 rs4987076 G A NON_SYNONYMOUS_CODING NAT1 MODERATE|MISSENSE|Gtc/Atc|V149I|290|NAT1|protein_coding|CODING|ENST00000539092|exon_8_18079551_18081197 . . 0/1:99:255,0,255 . 8 18080001 rs4987076 G A NON_SYNONYMOUS_CODING NAT1 MODERATE|MISSENSE|Gtc/Atc|V149I|290|NAT1|protein_coding|CODING|ENST00000541942|exon_8_18079551_18081197 . . 0/1:99:255,0,255 . 8 18080001 rs4987076 G A NON_SYNONYMOUS_CODING NAT1 MODERATE|MISSENSE|Gtc/Atc|V211I|352|NAT1|protein_coding|CODING|ENST00000545197|exon_8_18079551_18081197 . . 0/1:99:255,0,255 . 8 18080196 rs4986783 T G NON_SYNONYMOUS_CODING NAT1 MODERATE|MISSENSE|Tca/Gca|S214A|290|NAT1|protein_coding|CODING|ENST00000307719|exon_8_18079551_18081198 . . 0/1:99:235,0,217 . 8 18080196 rs4986783 T G NON_SYNONYMOUS_CODING NAT1 MODERATE|MISSENSE|Tca/Gca|S214A|290|NAT1|protein_coding|CODING|ENST00000517492|exon_8_18079551_18081198 . . 0/1:99:235,0,217 . 8 18080196 rs4986783 T G NON_SYNONYMOUS_CODING NAT1 MODERATE|MISSENSE|Tca/Gca|S214A|290|NAT1|protein_coding|CODING|ENST00000518029|exon_8_18079551_18081198 . . 0/1:99:235,0,217 . 8 18080196 rs4986783 T G NON_SYNONYMOUS_CODING NAT1 MODERATE|MISSENSE|Tca/Gca|S214A|290|NAT1|protein_coding|CODING|ENST00000520546|exon_8_18079286_18080731 . . 0/1:99:235,0,217 . 8 18080196 rs4986783 T G NON_SYNONYMOUS_CODING NAT1 MODERATE|MISSENSE|Tca/Gca|S214A|290|NAT1|protein_coding|CODING|ENST00000535084|exon_8_18079551_18081197 . . 0/1:99:235,0,217 . 8 18080196 rs4986783 T G NON_SYNONYMOUS_CODING NAT1 MODERATE|MISSENSE|Tca/Gca|S214A|290|NAT1|protein_coding|CODING|ENST00000539092|exon_8_18079551_18081197 . . 0/1:99:235,0,217 . 8 18080196 rs4986783 T G NON_SYNONYMOUS_CODING NAT1 MODERATE|MISSENSE|Tca/Gca|S214A|290|NAT1|protein_coding|CODING|ENST00000541942|exon_8_18079551_18081197 . . 0/1:99:235,0,217 . 8 18080196 rs4986783 T G NON_SYNONYMOUS_CODING NAT1 MODERATE|MISSENSE|Tca/Gca|S276A|352|NAT1|protein_coding|CODING|ENST00000545197|exon_8_18079551_18081197 . . 0/1:99:235,0,217 . 8 18729328 rs73202143 C A NON_SYNONYMOUS_CODING PSD3 MODERATE|MISSENSE|gGt/gTt|G284V|982|PSD3|protein_coding|CODING|ENST00000523619|exon_8_18729136_18730243 . . . 0/1:99:255,0,242 8 18729328 rs73202143 C A NON_SYNONYMOUS_CODING PSD3 MODERATE|MISSENSE|gGt/gTt|G349V|1047|PSD3|protein_coding|CODING|ENST00000327040|exon_8_18729136_18730243 . . . 0/1:99:255,0,242 8 18729328 rs73202143 C A NON_SYNONYMOUS_CODING PSD3 MODERATE|MISSENSE|gGt/gTt|G349V|1049|PSD3|protein_coding|CODING|ENST00000440756|exon_8_18729136_18730243 . . . 0/1:99:255,0,242 8 18730030 rs118013117 C A NON_SYNONYMOUS_CODING PSD3 MODERATE|MISSENSE|aGa/aTa|R115I|1047|PSD3|protein_coding|CODING|ENST00000327040|exon_8_18729136_18730243 0/1:99:255,0,255 . . . 8 18730030 rs118013117 C A NON_SYNONYMOUS_CODING PSD3 MODERATE|MISSENSE|aGa/aTa|R115I|1049|PSD3|protein_coding|CODING|ENST00000440756|exon_8_18729136_18730243 0/1:99:255,0,255 . . . 8 18730030 rs118013117 C A NON_SYNONYMOUS_CODING PSD3 MODERATE|MISSENSE|aGa/aTa|R50I|982|PSD3|protein_coding|CODING|ENST00000523619|exon_8_18729136_18730243 0/1:99:255,0,255 . . . 8 21769432 rs56094005 A G NON_SYNONYMOUS_CODING DOK2 MODERATE|MISSENSE|tTg/tCg|L138S|232|DOK2|protein_coding|CODING|ENST00000523932|exon_8_21769412_21769499 . . 1/1:99:255,75,0 . 8 21769432 rs56094005 A G NON_SYNONYMOUS_CODING DOK2 MODERATE|MISSENSE|tTg/tCg|L138S|412|DOK2|protein_coding|CODING|ENST00000276420|exon_8_21769412_21769499 . . 1/1:99:255,75,0 . 8 21939303 . C T NON_SYNONYMOUS_CODING EPB49 MODERATE|MISSENSE|cCg/cTg|P351L|541|EPB49|protein_coding|CODING|ENST00000381455|exon_8_21939284_21939877 . 0/1:99:197,0,187 . . 8 21981218 rs117197822 C T NON_SYNONYMOUS_CODING HR MODERATE|MISSENSE|cGg/cAg|R620Q|1134|HR|protein_coding|CODING|ENST00000312841|exon_8_21981162_21981326 . . 0/1:99:222,0,152 . 8 21981218 rs117197822 C T NON_SYNONYMOUS_CODING HR MODERATE|MISSENSE|cGg/cAg|R620Q|1189|HR|protein_coding|CODING|ENST00000381418|exon_8_21981162_21981326 . . 0/1:99:222,0,152 . 8 22436681 rs11545016 C T NON_SYNONYMOUS_CODING PDLIM2 MODERATE|MISSENSE|cCc/cTc|P130L|602|PDLIM2|protein_coding|CODING|ENST00000308354|exon_8_22436254_22437040 0/1:90:87,0,147 . 0/1:99:225,0,230 . 8 22458457 rs145988500 C G NON_SYNONYMOUS_CODING AC037459.4.1 MODERATE|MISSENSE|Cgg/Ggg|R104G|324|AC037459.4.1|protein_coding|CODING|ENST00000450780|exon_8_22458395_22458870 0/1:99:117,0,246 . . 0/1:92:231,0,89 8 22458457 rs145988500 C G NON_SYNONYMOUS_CODING C8orf58 MODERATE|MISSENSE|Cgg/Ggg|R35G|357|C8orf58|protein_coding|CODING|ENST00000409586|exon_8_22458395_22458870 0/1:99:117,0,246 . . 0/1:92:231,0,89 8 22458457 rs145988500 C G NON_SYNONYMOUS_CODING C8orf58 MODERATE|MISSENSE|Cgg/Ggg|R35G|365|C8orf58|protein_coding|CODING|ENST00000289989|exon_8_22458395_22458870 0/1:99:117,0,246 . . 0/1:92:231,0,89 8 22459488 rs147403979 C T NON_SYNONYMOUS_CODING C8orf58 MODERATE|MISSENSE|Ccc/Tcc|P149S|328|C8orf58|protein_coding|CODING|ENST00000381191|exon_8_22459485_22459593 0/1:99:172,0,161 . . . 8 22459488 rs147403979 C T NON_SYNONYMOUS_CODING C8orf58 MODERATE|MISSENSE|Ccc/Tcc|P20S|147|C8orf58|protein_coding|CODING|ENST00000475994|exon_8_22459485_22459825 0/1:99:172,0,161 . . . 8 22459488 rs147403979 C T NON_SYNONYMOUS_CODING C8orf58 MODERATE|MISSENSE|Ccc/Tcc|P221S|357|C8orf58|protein_coding|CODING|ENST00000409586|exon_8_22459485_22459593 0/1:99:172,0,161 . . . 8 22459488 rs147403979 C T NON_SYNONYMOUS_CODING C8orf58 MODERATE|MISSENSE|Ccc/Tcc|P221S|365|C8orf58|protein_coding|CODING|ENST00000289989|exon_8_22459485_22459593 0/1:99:172,0,161 . . . 8 22459488 rs147403979 C T NON_SYNONYMOUS_CODING AC037459.4.1 MODERATE|MISSENSE|Ccc/Tcc|P290S|324|AC037459.4.1|protein_coding|CODING|ENST00000450780|exon_8_22459485_22459597 0/1:99:172,0,161 . . . 8 22900701 rs1047266 G A NON_SYNONYMOUS_CODING TNFRSF10B MODERATE|MISSENSE|gCg/gTg|A67V|411|TNFRSF10B|protein_coding|CODING|ENST00000347739|exon_8_22900651_22900756 0/1:99:194,0,231 . . 0/1:99:213,0,215 8 22900701 rs1047266 G A NON_SYNONYMOUS_CODING TNFRSF10B MODERATE|MISSENSE|gCg/gTg|A67V|440|TNFRSF10B|protein_coding|CODING|ENST00000276431|exon_8_22900651_22900756 0/1:99:194,0,231 . . 0/1:99:213,0,215 8 23002090 rs55636833 C T NON_SYNONYMOUS_CODING TNFRSF10D MODERATE|MISSENSE|cGc/cAc|R276H|386|TNFRSF10D|protein_coding|CODING|ENST00000312584|exon_8_23001963_23002148 . 0/1:99:255,0,255 . . 8 23054713 rs138069770 G A NON_SYNONYMOUS_CODING TNFRSF10A MODERATE|MISSENSE|cCg/cTg|P340L|468|TNFRSF10A|protein_coding|CODING|ENST00000221132|exon_8_23054645_23054717 0/1:99:100,0,255 . . . 8 23423669 rs2942194 A G NON_SYNONYMOUS_CODING SLC25A37 MODERATE|MISSENSE|Atc/Gtc|I68V|153|SLC25A37|protein_coding|CODING|ENST00000523930|exon_8_23423621_23423849 . 1/1:99:255,72,0 0/1:99:244,0,195 0/1:99:169,0,118 8 23423669 rs2942194 A G NON_SYNONYMOUS_CODING SLC25A37 MODERATE|MISSENSE|Atc/Gtc|I87V|338|SLC25A37|protein_coding|CODING|ENST00000519973|exon_8_23423621_23423849 . 1/1:99:255,72,0 0/1:99:244,0,195 0/1:99:169,0,118 8 23560484 rs143039156 G T NON_SYNONYMOUS_CODING NKX2-6 MODERATE|MISSENSE|gCg/gAg|A129E|301|NKX2-6|protein_coding|CODING|ENST00000325017|exon_8_23559964_23560595 . . 0/1:99:224,0,243 . 8 23560484 rs143039156 G T NON_SYNONYMOUS_CODING NKX2-6 MODERATE|MISSENSE|gCg/gAg|A47E|219|NKX2-6|protein_coding|CODING|ENST00000418222|exon_8_23559964_23560595 . . 0/1:99:224,0,243 . 8 24207418 . A G NON_SYNONYMOUS_CODING ADAM28 MODERATE|MISSENSE|Att/Gtt|I678V|775|ADAM28|protein_coding|CODING|ENST00000265769|exon_8_24207377_24207485 . . 0/1:99:255,0,255 . 8 24207418 . A G NON_SYNONYMOUS_CODING ADAM28 MODERATE|MISSENSE|cAt/cGt|H426R|483|ADAM28|protein_coding|CODING|ENST00000397649|exon_8_24207377_24207485 . . 0/1:99:255,0,255 . 8 24259546 rs143693498 C T NON_SYNONYMOUS_CODING ADAMDEC1 MODERATE|MISSENSE|Cca/Tca|P342S|391|ADAMDEC1|protein_coding|CODING|ENST00000522298|exon_8_24259428_24259605 . . 0/1:99:255,0,210 . 8 24259546 rs143693498 C T NON_SYNONYMOUS_CODING ADAMDEC1 MODERATE|MISSENSE|Cca/Tca|P342S|391|ADAMDEC1|protein_coding|CODING|ENST00000538205|exon_8_24259428_24259605 . . 0/1:99:255,0,210 . 8 24259546 rs143693498 C T NON_SYNONYMOUS_CODING ADAMDEC1 MODERATE|MISSENSE|Cca/Tca|P421S|470|ADAMDEC1|protein_coding|CODING|ENST00000256412|exon_8_24259428_24259605 . . 0/1:99:255,0,210 . 8 25220572 rs74894413 A T NON_SYNONYMOUS_CODING DOCK5 MODERATE|MISSENSE|Atg/Ttg|M987L|1870|DOCK5|protein_coding|CODING|ENST00000276440|exon_8_25220563_25220657 0/1:99:255,0,255 . . . 8 26365806 rs144954264 G A NON_SYNONYMOUS_CODING PNMA2 MODERATE|MISSENSE|Ccc/Tcc|P156S|364|PNMA2|protein_coding|CODING|ENST00000522362|exon_8_26362217_26366759 0/1:99:229,0,255 . . . 8 27358495 rs139234214 C T NON_SYNONYMOUS_CODING EPHX2 MODERATE|MISSENSE|Cgg/Tgg|R52W|157|EPHX2|protein_coding|CODING|ENST00000518328|exon_8_27358443_27358527 . . . 0/1:99:187,0,140 8 27358495 rs139234214 C T NON_SYNONYMOUS_CODING EPHX2 MODERATE|MISSENSE|Cgg/Tgg|R52W|372|EPHX2|protein_coding|CODING|ENST00000517536|exon_8_27358443_27358527 . . . 0/1:99:187,0,140 8 27358495 rs139234214 C T NON_SYNONYMOUS_CODING EPHX2 MODERATE|MISSENSE|Cgg/Tgg|R52W|502|EPHX2|protein_coding|CODING|ENST00000415449|exon_8_27358443_27358527 . . . 0/1:99:187,0,140 8 27358495 rs139234214 C T NON_SYNONYMOUS_CODING EPHX2 MODERATE|MISSENSE|Cgg/Tgg|R52W|523|EPHX2|protein_coding|CODING|ENST00000518379|exon_8_27358443_27358527 . . . 0/1:99:187,0,140 8 27358495 rs139234214 C T NON_SYNONYMOUS_CODING EPHX2 MODERATE|MISSENSE|Cgg/Tgg|R52W|555|EPHX2|protein_coding|CODING|ENST00000521400|exon_8_27358443_27358527 . . . 0/1:99:187,0,140 8 27394334 . AGTCG AGTCGTCG CODON_CHANGE_PLUS_CODON_INSERTION EPHX2 MODERATE||cgg/cgTCGg|R220RR|372|EPHX2|protein_coding|CODING|ENST00000517536|exon_8_27394301_27394372 . 0/1:99:239,0,255 . . 8 27394334 . AGTCG AGTCGTCG CODON_CHANGE_PLUS_CODON_INSERTION EPHX2 MODERATE||cgg/cgTCGg|R337RR|489|EPHX2|protein_coding|CODING|ENST00000521780|exon_8_27394301_27394372 . 0/1:99:239,0,255 . . 8 27394334 . AGTCG AGTCGTCG CODON_CHANGE_PLUS_CODON_INSERTION EPHX2 MODERATE||cgg/cgTCGg|R350RR|502|EPHX2|protein_coding|CODING|ENST00000380476|exon_8_27394301_27394372 . 0/1:99:239,0,255 . . 8 27394334 . AGTCG AGTCGTCG CODON_CHANGE_PLUS_CODON_INSERTION EPHX2 MODERATE||cgg/cgTCGg|R350RR|502|EPHX2|protein_coding|CODING|ENST00000415449|exon_8_27394301_27394372 . 0/1:99:239,0,255 . . 8 27394334 . AGTCG AGTCGTCG CODON_CHANGE_PLUS_CODON_INSERTION EPHX2 MODERATE||cgg/cgTCGg|R371RR|523|EPHX2|protein_coding|CODING|ENST00000518379|exon_8_27394301_27394372 . 0/1:99:239,0,255 . . 8 27394334 . AGTCG AGTCGTCG CODON_CHANGE_PLUS_CODON_INSERTION EPHX2 MODERATE||cgg/cgTCGg|R403RR|555|EPHX2|protein_coding|CODING|ENST00000521400|exon_8_27394301_27394372 . 0/1:99:239,0,255 . . 8 27779093 rs118119884 G A NON_SYNONYMOUS_CODING SCARA5 MODERATE|MISSENSE|gCg/gTg|A104V|188|SCARA5|protein_coding|CODING|ENST00000517320|exon_8_27779088_27779221 . 0/1:99:125,0,255 . . 8 27779093 rs118119884 G A NON_SYNONYMOUS_CODING SCARA5 MODERATE|MISSENSE|gCg/gTg|A261V|357|SCARA5|protein_coding|CODING|ENST00000301906|exon_8_27779088_27779762 . 0/1:99:125,0,255 . . 8 27779093 rs118119884 G A NON_SYNONYMOUS_CODING SCARA5 MODERATE|MISSENSE|gCg/gTg|A261V|357|SCARA5|protein_coding|CODING|ENST00000518030|exon_8_27779088_27779762 . 0/1:99:125,0,255 . . 8 27779093 rs118119884 G A NON_SYNONYMOUS_CODING SCARA5 MODERATE|MISSENSE|gCg/gTg|A304V|400|SCARA5|protein_coding|CODING|ENST00000524352|exon_8_27779088_27779762 . 0/1:99:125,0,255 . . 8 27779093 rs118119884 G A NON_SYNONYMOUS_CODING SCARA5 MODERATE|MISSENSE|gCg/gTg|A304V|495|SCARA5|protein_coding|CODING|ENST00000354914|exon_8_27779088_27779762 . 0/1:99:125,0,255 . . 8 30702525 rs323344 A C NON_SYNONYMOUS_CODING TEX15 MODERATE|MISSENSE|Tta/Gta|L1337V|2789|TEX15|protein_coding|CODING|ENST00000256246|exon_8_30699520_30706608 . 0/1:99:255,0,255 . . 8 30702602 rs323345 T C NON_SYNONYMOUS_CODING TEX15 MODERATE|MISSENSE|aAc/aGc|N1311S|2789|TEX15|protein_coding|CODING|ENST00000256246|exon_8_30699520_30706608 . 0/1:99:255,0,255 . . 8 30703431 rs323346 T C NON_SYNONYMOUS_CODING TEX15 MODERATE|MISSENSE|Ata/Gta|I1035V|2789|TEX15|protein_coding|CODING|ENST00000256246|exon_8_30699520_30706608 . 0/1:99:255,0,255 . . 8 30706224 rs323347 A G NON_SYNONYMOUS_CODING TEX15 MODERATE|MISSENSE|Tgt/Cgt|C104R|2789|TEX15|protein_coding|CODING|ENST00000256246|exon_8_30699520_30706608 . 0/1:99:215,0,255 . . 8 30921935 rs2230009 G A NON_SYNONYMOUS_CODING WRN MODERATE|MISSENSE|Gtt/Att|V114I|1432|WRN|protein_coding|CODING|ENST00000298139|exon_8_30921805_30921950 . . . 0/1:99:255,0,255 8 33449550 rs144929688 C T NON_SYNONYMOUS_CODING DUSP26 MODERATE|MISSENSE|cGg/cAg|R206Q|211|DUSP26|protein_coding|CODING|ENST00000256261|exon_8_33448856_33449730 . 0/1:99:183,0,221 . . 8 33449550 rs144929688 C T NON_SYNONYMOUS_CODING DUSP26 MODERATE|MISSENSE|cGg/cAg|R206Q|211|DUSP26|protein_coding|CODING|ENST00000523956|exon_8_33449366_33449730 . 0/1:99:183,0,221 . . 8 37692704 rs113270504 G A NON_SYNONYMOUS_CODING GPR124 MODERATE|MISSENSE|Gtg/Atg|V534M|1256|GPR124|protein_coding|CODING|ENST00000416514|exon_8_37692692_37692916 . . . 0/1:99:105,0,171 8 37692704 rs113270504 G A NON_SYNONYMOUS_CODING GPR124 MODERATE|MISSENSE|Gtg/Atg|V541M|1338|GPR124|protein_coding|CODING|ENST00000412232|exon_8_37692692_37692916 . . . 0/1:99:105,0,171 8 39840234 rs4736794 A G NON_SYNONYMOUS_CODING IDO2 MODERATE|MISSENSE|Atc/Gtc|I127V|407|IDO2|protein_coding|CODING|ENST00000389060|exon_8_39840171_39840289 0/1:99:173,0,255 . . . 8 39840234 rs4736794 A G NON_SYNONYMOUS_CODING IDO2 MODERATE|MISSENSE|Atc/Gtc|I140V|420|IDO2|protein_coding|CODING|ENST00000502986|exon_8_39840171_39840289 0/1:99:173,0,255 . . . 8 39873053 rs72632016 G A NON_SYNONYMOUS_CODING IDO2 MODERATE|MISSENSE|Gca/Aca|A386T|407|IDO2|protein_coding|CODING|ENST00000389060|exon_8_39872766_39873124 . . . 0/1:99:255,0,255 8 39873053 rs72632016 G A NON_SYNONYMOUS_CODING IDO2 MODERATE|MISSENSE|Gca/Aca|A399T|420|IDO2|protein_coding|CODING|ENST00000502986|exon_8_39872766_39873910 . . . 0/1:99:255,0,255 8 40438757 rs17851751 T C NON_SYNONYMOUS_CODING ZMAT4 MODERATE|MISSENSE|Acc/Gcc|T125A|153|ZMAT4|protein_coding|CODING|ENST00000315769|exon_8_40438684_40438780 . . . 1/1:99:255,84,0 8 40438757 rs17851751 T C NON_SYNONYMOUS_CODING ZMAT4 MODERATE|MISSENSE|Acc/Gcc|T201A|210|ZMAT4|protein_coding|CODING|ENST00000519406|exon_8_40438723_40438780 . . . 1/1:99:255,84,0 8 40438757 rs17851751 T C NON_SYNONYMOUS_CODING ZMAT4 MODERATE|MISSENSE|Acc/Gcc|T201A|229|ZMAT4|protein_coding|CODING|ENST00000297737|exon_8_40438684_40438780 . . . 1/1:99:255,84,0 8 41507705 . C T NON_SYNONYMOUS_CODING NKX6-3 MODERATE|MISSENSE|Gag/Aag|E103K|264|NKX6-3|protein_coding|CODING|ENST00000518699|exon_8_41507630_41508855 . . . 0/1:99:175,0,159 8 41507705 . C T NON_SYNONYMOUS_CODING NKX6-3 MODERATE|MISSENSE|Gag/Aag|E103K|265|NKX6-3|protein_coding|CODING|ENST00000425142|exon_8_41507630_41508011 . . . 0/1:99:175,0,159 8 41571702 rs201459848 C T NON_SYNONYMOUS_CODING ANK1 MODERATE|MISSENSE|cGg/cAg|R591Q|1518|ANK1|protein_coding|CODING|ENST00000358820|exon_8_41571674_41571772 . . . 0/1:99:157,0,186 8 41571702 rs201459848 C T NON_SYNONYMOUS_CODING ANK1 MODERATE|MISSENSE|cGg/cAg|R591Q|1806|ANK1|protein_coding|CODING|ENST00000396945|exon_8_41571674_41571772 . . . 0/1:99:157,0,186 8 41571702 rs201459848 C T NON_SYNONYMOUS_CODING ANK1 MODERATE|MISSENSE|cGg/cAg|R591Q|1834|ANK1|protein_coding|CODING|ENST00000379758|exon_8_41571674_41571772 . . . 0/1:99:157,0,186 8 41571702 rs201459848 C T NON_SYNONYMOUS_CODING ANK1 MODERATE|MISSENSE|cGg/cAg|R591Q|1858|ANK1|protein_coding|CODING|ENST00000352337|exon_8_41571674_41571772 . . . 0/1:99:157,0,186 8 41571702 rs201459848 C T NON_SYNONYMOUS_CODING ANK1 MODERATE|MISSENSE|cGg/cAg|R591Q|1880|ANK1|protein_coding|CODING|ENST00000289734|exon_8_41571674_41571772 . . . 0/1:99:157,0,186 8 41571702 rs201459848 C T NON_SYNONYMOUS_CODING ANK1 MODERATE|MISSENSE|cGg/cAg|R591Q|1881|ANK1|protein_coding|CODING|ENST00000347528|exon_8_41571674_41571772 . . . 0/1:99:157,0,186 8 41571702 rs201459848 C T NON_SYNONYMOUS_CODING ANK1 MODERATE|MISSENSE|cGg/cAg|R591Q|1905|ANK1|protein_coding|CODING|ENST00000396942|exon_8_41571674_41571772 . . . 0/1:99:157,0,186 8 41571702 rs201459848 C T NON_SYNONYMOUS_CODING ANK1 MODERATE|MISSENSE|cGg/cAg|R624Q|1897|ANK1|protein_coding|CODING|ENST00000265709|exon_8_41571674_41571772 . . . 0/1:99:157,0,186 8 41791254 rs145436847 C T NON_SYNONYMOUS_CODING KAT6A MODERATE|MISSENSE|cGt/cAt|R1495H|2004|KAT6A|protein_coding|CODING|ENST00000265713|exon_8_41786997_41792385 0/1:99:239,0,255 . . . 8 41791254 rs145436847 C T NON_SYNONYMOUS_CODING KAT6A MODERATE|MISSENSE|cGt/cAt|R1495H|2004|KAT6A|protein_coding|CODING|ENST00000396930|exon_8_41786997_41792385 0/1:99:239,0,255 . . . 8 41791254 rs145436847 C T NON_SYNONYMOUS_CODING KAT6A MODERATE|MISSENSE|cGt/cAt|R1495H|2004|KAT6A|protein_coding|CODING|ENST00000406337|exon_8_41786997_41792385 0/1:99:239,0,255 . . . 8 41905973 . T C NON_SYNONYMOUS_CODING KAT6A MODERATE|MISSENSE|Aac/Gac|N175D|2004|KAT6A|protein_coding|CODING|ENST00000265713|exon_8_41905896_41906820 . 0/1:99:172,0,255 . . 8 41905973 . T C NON_SYNONYMOUS_CODING KAT6A MODERATE|MISSENSE|Aac/Gac|N175D|2004|KAT6A|protein_coding|CODING|ENST00000396930|exon_8_41905896_41906820 . 0/1:99:172,0,255 . . 8 41905973 . T C NON_SYNONYMOUS_CODING KAT6A MODERATE|MISSENSE|Aac/Gac|N175D|2004|KAT6A|protein_coding|CODING|ENST00000406337|exon_8_41905896_41906820 . 0/1:99:172,0,255 . . 8 41905973 . T C NON_SYNONYMOUS_CODING KAT6A MODERATE|MISSENSE|Aac/Gac|N175D|815|KAT6A|protein_coding|CODING|ENST00000485568|exon_8_41905896_41906820 . 0/1:99:172,0,255 . . 8 41906095 rs3824276 A G NON_SYNONYMOUS_CODING KAT6A MODERATE|MISSENSE|tTa/tCa|L134S|2004|KAT6A|protein_coding|CODING|ENST00000265713|exon_8_41905896_41906820 . 0/1:99:255,0,215 . . 8 41906095 rs3824276 A G NON_SYNONYMOUS_CODING KAT6A MODERATE|MISSENSE|tTa/tCa|L134S|2004|KAT6A|protein_coding|CODING|ENST00000396930|exon_8_41905896_41906820 . 0/1:99:255,0,215 . . 8 41906095 rs3824276 A G NON_SYNONYMOUS_CODING KAT6A MODERATE|MISSENSE|tTa/tCa|L134S|2004|KAT6A|protein_coding|CODING|ENST00000406337|exon_8_41905896_41906820 . 0/1:99:255,0,215 . . 8 41906095 rs3824276 A G NON_SYNONYMOUS_CODING KAT6A MODERATE|MISSENSE|tTa/tCa|L134S|815|KAT6A|protein_coding|CODING|ENST00000485568|exon_8_41905896_41906820 . 0/1:99:255,0,215 . . 8 42231688 rs200364431 C T NON_SYNONYMOUS_CODING DKK4 MODERATE|MISSENSE|tGt/tAt|C202Y|224|DKK4|protein_coding|CODING|ENST00000220812|exon_8_42231586_42231877 . . . 0/1:99:190,0,255 8 42294592 rs79577461 C T NON_SYNONYMOUS_CODING SLC20A2 MODERATE|MISSENSE|Gca/Aca|A480T|652|SLC20A2|protein_coding|CODING|ENST00000342228|exon_8_42294507_42295095 . . . 0/1:99:201,0,102 8 42294592 rs79577461 C T NON_SYNONYMOUS_CODING SLC20A2 MODERATE|MISSENSE|Gca/Aca|A480T|652|SLC20A2|protein_coding|CODING|ENST00000520179|exon_8_42294507_42295095 . . . 0/1:99:201,0,102 8 42294592 rs79577461 C T NON_SYNONYMOUS_CODING SLC20A2 MODERATE|MISSENSE|Gca/Aca|A480T|652|SLC20A2|protein_coding|CODING|ENST00000520262|exon_8_42294507_42295095 . . . 0/1:99:201,0,102 8 48751712 . A C NON_SYNONYMOUS_CODING PRKDC MODERATE|MISSENSE|cTt/cGt|L2516R|4096|PRKDC|protein_coding|CODING|ENST00000338368|exon_8_48751709_48751807 . . . 0/1:99:255,0,255 8 48751712 . A C NON_SYNONYMOUS_CODING PRKDC MODERATE|MISSENSE|cTt/cGt|L2516R|4127|PRKDC|protein_coding|CODING|ENST00000314191|exon_8_48751709_48751807 . . . 0/1:99:255,0,255 8 48761994 . T C NON_SYNONYMOUS_CODING PRKDC MODERATE|MISSENSE|aAg/aGg|K2358R|4096|PRKDC|protein_coding|CODING|ENST00000338368|exon_8_48761940_48762064 0/1:99:232,0,255 . . . 8 48761994 . T C NON_SYNONYMOUS_CODING PRKDC MODERATE|MISSENSE|aAg/aGg|K2358R|4127|PRKDC|protein_coding|CODING|ENST00000314191|exon_8_48761940_48762064 0/1:99:232,0,255 . . . 8 48882589 rs117063344 G C NON_SYNONYMOUS_CODING MCM4 MODERATE|MISSENSE|aGc/aCc|S187T|277|MCM4|protein_coding|CODING|ENST00000520637|exon_8_48882358_48882617 . . 0/1:99:255,0,255 . 8 48882589 rs117063344 G C NON_SYNONYMOUS_CODING MCM4 MODERATE|MISSENSE|aGc/aCc|S429T|823|MCM4|protein_coding|CODING|ENST00000429229|exon_8_48882358_48882617 . . 0/1:99:255,0,255 . 8 48882589 rs117063344 G C NON_SYNONYMOUS_CODING MCM4 MODERATE|MISSENSE|aGc/aCc|S456T|850|MCM4|protein_coding|CODING|ENST00000396826|exon_8_48882358_48882617 . . 0/1:99:255,0,255 . 8 48882589 rs117063344 G C NON_SYNONYMOUS_CODING MCM4 MODERATE|MISSENSE|aGc/aCc|S469T|863|MCM4|protein_coding|CODING|ENST00000262105|exon_8_48882358_48882617 . . 0/1:99:255,0,255 . 8 48882589 rs117063344 G C NON_SYNONYMOUS_CODING MCM4 MODERATE|MISSENSE|aGc/aCc|S469T|863|MCM4|protein_coding|CODING|ENST00000523944|exon_8_48882358_48882617 . . 0/1:99:255,0,255 . 8 49643960 rs74697155 C T NON_SYNONYMOUS_CODING EFCAB1 MODERATE|MISSENSE|cGa/cAa|R54Q|211|EFCAB1|protein_coding|CODING|ENST00000262103|exon_8_49643907_49644062 . . . 0/1:99:255,0,240 8 49643960 rs74697155 C T NON_SYNONYMOUS_CODING EFCAB1 MODERATE|MISSENSE|cGa/cAa|R54Q|211|EFCAB1|protein_coding|CODING|ENST00000450553|exon_8_49643907_49644062 . . . 0/1:99:255,0,240 8 49987801 rs72641628 A G NON_SYNONYMOUS_CODING C8orf22 MODERATE|MISSENSE|Agt/Ggt|S81G|81|C8orf22|protein_coding|CODING|ENST00000399653|exon_8_49987794_49988649 . . . 0/1:99:255,0,241 8 52366300 rs7833909 A G NON_SYNONYMOUS_CODING PXDNL MODERATE|MISSENSE|aTt/aCt|I343T|1316|PXDNL|protein_coding|CODING|ENST00000543296|exon_8_52366079_52366345 0/1:99:255,0,233 . . . 8 52366300 rs7833909 A G NON_SYNONYMOUS_CODING PXDNL MODERATE|MISSENSE|aTt/aCt|I343T|1463|PXDNL|protein_coding|CODING|ENST00000356297|exon_8_52366079_52366345 0/1:99:255,0,233 . . . 8 52730441 rs6768 T C NON_SYNONYMOUS_CODING AC090186.1 MODERATE|MISSENSE|Tat/Cat|Y14H|31|AC090186.1|protein_coding|CODING|ENST00000415643|exon_8_52730143_52730969 . . 0/1:99:121,0,255 0/1:99:235,0,255 8 57026229 rs35392772 C A NON_SYNONYMOUS_CODING MOS MODERATE|MISSENSE|Gct/Tct|A105S|346|MOS|protein_coding|CODING|ENST00000311923|exon_8_57025501_57026541 0/1:99:126,0,255 0/1:99:204,0,255 . . 8 65493664 rs13279074 G T NON_SYNONYMOUS_CODING BHLHE22 MODERATE|MISSENSE|gGt/gTt|G106V|381|BHLHE22|protein_coding|CODING|ENST00000321870|exon_8_65492814_65496181 0/1:97:94,0,118 . . . 8 65494020 . GGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA GGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA CODON_CHANGE_PLUS_CODON_INSERTION BHLHE22 MODERATE||aag/aGCAag|K235SK|381|BHLHE22|protein_coding|CODING|ENST00000321870|exon_8_65492814_65496181 0/1:99:173,0,150 0/1:99:172,0,114 . . 8 68130265 rs142342517 C A NON_SYNONYMOUS_CODING ARFGEF1 MODERATE|MISSENSE|Gct/Tct|A1483S|1849|ARFGEF1|protein_coding|CODING|ENST00000262215|exon_8_68130238_68130373 . . . 0/1:99:255,0,209 8 68130265 rs142342517 C A NON_SYNONYMOUS_CODING ARFGEF1 MODERATE|MISSENSE|Gct/Tct|A321S|702|ARFGEF1|protein_coding|CODING|ENST00000518230|exon_8_68130238_68130373 . . . 0/1:99:255,0,209 8 68130265 rs142342517 C A NON_SYNONYMOUS_CODING ARFGEF1 MODERATE|MISSENSE|Gct/Tct|A937S|1254|ARFGEF1|protein_coding|CODING|ENST00000520381|exon_8_68130238_68130373 . . . 0/1:99:255,0,209 8 68396915 rs17343819 T C NON_SYNONYMOUS_CODING CPA6 MODERATE|MISSENSE|aAt/aGt|N101S|193|CPA6|protein_coding|CODING|ENST00000297769|exon_8_68396914_68397024 0/1:99:255,0,255 . . . 8 68396915 rs17343819 T C NON_SYNONYMOUS_CODING CPA6 MODERATE|MISSENSE|aAt/aGt|N249S|315|CPA6|protein_coding|CODING|ENST00000518549|exon_8_68396914_68397024 0/1:99:255,0,255 . . . 8 68396915 rs17343819 T C NON_SYNONYMOUS_CODING CPA6 MODERATE|MISSENSE|aAt/aGt|N249S|437|CPA6|protein_coding|CODING|ENST00000297770|exon_8_68396914_68397024 0/1:99:255,0,255 . . . 8 69012180 . A G NON_SYNONYMOUS_CODING PREX2 MODERATE|MISSENSE|tAc/tGc|Y920C|1173|PREX2|protein_coding|CODING|ENST00000396539|exon_8_69012178_69012219 0/1:99:255,0,255 . . . 8 71033566 rs61754973 T C NON_SYNONYMOUS_CODING NCOA2 MODERATE|MISSENSE|Atg/Gtg|M1452V|1464|NCOA2|protein_coding|CODING|ENST00000452400|exon_8_71033537_71033626 . . . 0/1:99:218,0,255 8 71033566 rs61754973 T C NON_SYNONYMOUS_CODING NCOA2 MODERATE|MISSENSE|Atg/Gtg|M540V|552|NCOA2|protein_coding|CODING|ENST00000267974|exon_8_71033537_71033626 . . . 0/1:99:218,0,255 8 74334889 rs114263344 T G NON_SYNONYMOUS_CODING STAU2 MODERATE|MISSENSE|Atc/Ctc|I355L|398|STAU2|protein_coding|CODING|ENST00000523558|exon_8_74334849_74334937 0/1:99:255,0,225 . . . 8 74334889 rs114263344 T G NON_SYNONYMOUS_CODING STAU2 MODERATE|MISSENSE|Atc/Ctc|I461L|504|STAU2|protein_coding|CODING|ENST00000521210|exon_8_74334849_74334937 0/1:99:255,0,225 . . . 8 74334889 rs114263344 T G NON_SYNONYMOUS_CODING STAU2 MODERATE|MISSENSE|Atc/Ctc|I495L|538|STAU2|protein_coding|CODING|ENST00000522695|exon_8_74334849_74334937 0/1:99:255,0,225 . . . 8 74334889 rs114263344 T G NON_SYNONYMOUS_CODING STAU2 MODERATE|MISSENSE|Atc/Ctc|I527L|570|STAU2|protein_coding|CODING|ENST00000524300|exon_8_74334849_74334937 0/1:99:255,0,225 . . . 8 74439975 . T C NON_SYNONYMOUS_CODING STAU2 MODERATE|MISSENSE|cAg/cGg|Q145R|162|STAU2|protein_coding|CODING|ENST00000523533|exon_8_74439604_74440039 . . 0/1:99:255,0,255 . 8 74439975 . T C NON_SYNONYMOUS_CODING STAU2 MODERATE|MISSENSE|cAg/cGg|Q428R|504|STAU2|protein_coding|CODING|ENST00000521210|exon_8_74439926_74440039 . . 0/1:99:255,0,255 . 8 74888616 rs8075 G C NON_SYNONYMOUS_CODING TMEM70 MODERATE|MISSENSE|Gcc/Ccc|A34P|107|TMEM70|protein_coding|CODING|ENST00000517439|exon_8_74888442_74888726 0/1:99:210,0,178 . . . 8 74888616 rs8075 G C NON_SYNONYMOUS_CODING TMEM70 MODERATE|MISSENSE|Gcc/Ccc|A34P|260|TMEM70|protein_coding|CODING|ENST00000312184|exon_8_74888444_74888726 0/1:99:210,0,178 . . . 8 74893821 rs1053079 A G NON_SYNONYMOUS_CODING TMEM70 MODERATE|MISSENSE|Acc/Gcc|T250A|260|TMEM70|protein_coding|CODING|ENST00000312184|exon_8_74893390_74895018 0/1:99:252,0,216 . . . 8 74893850 rs1053077 C G NON_SYNONYMOUS_CODING TMEM70 MODERATE|MISSENSE|gaC/gaG|D259E|260|TMEM70|protein_coding|CODING|ENST00000312184|exon_8_74893390_74895018 0/1:99:222,0,255 . . . 8 75156799 rs16938828 C G NON_SYNONYMOUS_CODING JPH1 MODERATE|MISSENSE|Gat/Cat|D624H|661|JPH1|protein_coding|CODING|ENST00000342232|exon_8_75156764_75157410 . . . 0/1:99:255,0,253 8 79629586 rs77219198 C T NON_SYNONYMOUS_CODING FAM164A MODERATE|MISSENSE|tCc/tTc|S279F|325|FAM164A|protein_coding|CODING|ENST00000263849|exon_8_79629563_79629935 . 0/1:99:255,0,255 . 0/1:99:255,0,181 8 81399047 . TGTCGT TGT CODON_CHANGE_PLUS_CODON_DELETION ZBTB10 MODERATE||tcgttc/ttc|SF2F|847|ZBTB10|protein_coding|CODING|ENST00000455036|exon_8_81398448_81400017 0/1:38:100,0,35 . . . 8 81399047 . TGTCGT TGT CODON_CHANGE_PLUS_CODON_DELETION ZBTB10 MODERATE||tcgttc/ttc|SF2F|871|ZBTB10|protein_coding|CODING|ENST00000426744|exon_8_81398448_81400017 0/1:38:100,0,35 . . . 8 81399047 . TGTCGT TGT CODON_CHANGE_PLUS_CODON_DELETION ZBTB10 MODERATE||tcgttc/ttc|SF2F|871|ZBTB10|protein_coding|CODING|ENST00000430430|exon_8_81398484_81400017 0/1:38:100,0,35 . . . 8 86021932 rs16913589 T A NON_SYNONYMOUS_CODING LRRCC1 MODERATE|MISSENSE|caT/caA|H49Q|1012|LRRCC1|protein_coding|CODING|ENST00000414626|exon_8_86020897_86022035 . 0/1:99:255,0,243 . . 8 86021932 rs16913589 T A NON_SYNONYMOUS_CODING LRRCC1 MODERATE|MISSENSE|caT/caA|H69Q|1032|LRRCC1|protein_coding|CODING|ENST00000360375|exon_8_86021830_86022035 . 0/1:99:255,0,243 . . 8 86027418 rs3736038 A G NON_SYNONYMOUS_CODING LRRCC1 MODERATE|MISSENSE|Aca/Gca|T117A|276|LRRCC1|protein_coding|CODING|ENST00000426019|exon_8_86027335_86027510 . 0/1:99:255,0,255 . . 8 86027418 rs3736038 A G NON_SYNONYMOUS_CODING LRRCC1 MODERATE|MISSENSE|Aca/Gca|T190A|1012|LRRCC1|protein_coding|CODING|ENST00000414626|exon_8_86027335_86027510 . 0/1:99:255,0,255 . . 8 86027418 rs3736038 A G NON_SYNONYMOUS_CODING LRRCC1 MODERATE|MISSENSE|Aca/Gca|T210A|1032|LRRCC1|protein_coding|CODING|ENST00000360375|exon_8_86027335_86027510 . 0/1:99:255,0,255 . . 8 86089708 rs4150841 G C NON_SYNONYMOUS_CODING E2F5 MODERATE|MISSENSE|gGg/gCg|G18A|345|E2F5|protein_coding|CODING|ENST00000418930|exon_8_86089460_86089889 . 0/1:59:56,0,85 . . 8 86089708 rs4150841 G C NON_SYNONYMOUS_CODING E2F5 MODERATE|MISSENSE|gGg/gCg|G18A|346|E2F5|protein_coding|CODING|ENST00000416274|exon_8_86089622_86089889 . 0/1:59:56,0,85 . . 8 86089708 rs4150841 G C NON_SYNONYMOUS_CODING E2F5 MODERATE|MISSENSE|gGg/gCg|G18A|347|E2F5|protein_coding|CODING|ENST00000256117|exon_8_86089619_86089889 . 0/1:59:56,0,85 . . 8 86126805 rs200451411 G A NON_SYNONYMOUS_CODING C8orf59 MODERATE|MISSENSE|gCt/gTt|A57V|59|C8orf59|protein_coding|CODING|ENST00000431163|exon_8_86126312_86126860 0/1:99:255,0,188 . . . 8 86126805 rs200451411 G A NON_SYNONYMOUS_CODING C8orf59 MODERATE|MISSENSE|gCt/gTt|A57V|59|C8orf59|protein_coding|CODING|ENST00000518562|exon_8_86126737_86126860 0/1:99:255,0,188 . . . 8 86126805 rs200451411 G A NON_SYNONYMOUS_CODING C8orf59 MODERATE|MISSENSE|gCt/gTt|A96V|98|C8orf59|protein_coding|CODING|ENST00000417663|exon_8_86126311_86126860 0/1:99:255,0,188 . . . 8 86126805 rs200451411 G A NON_SYNONYMOUS_CODING C8orf59 MODERATE|MISSENSE|gCt/gTt|A96V|98|C8orf59|protein_coding|CODING|ENST00000421308|exon_8_86126722_86126860 0/1:99:255,0,188 . . . 8 86126805 rs200451411 G A NON_SYNONYMOUS_CODING C8orf59 MODERATE|MISSENSE|gCt/gTt|A96V|98|C8orf59|protein_coding|CODING|ENST00000458398|exon_8_86126791_86126860 0/1:99:255,0,188 . . . 8 86126805 rs200451411 G A NON_SYNONYMOUS_CODING C8orf59 MODERATE|MISSENSE|gCt/gTt|A96V|98|C8orf59|protein_coding|CODING|ENST00000518091|exon_8_86126738_86126860 0/1:99:255,0,188 . . . 8 86126805 rs200451411 G A NON_SYNONYMOUS_CODING C8orf59 MODERATE|MISSENSE|gCt/gTt|A96V|98|C8orf59|protein_coding|CODING|ENST00000524353|exon_8_86126737_86126860 0/1:99:255,0,188 . . . 8 87229739 rs4419794 C T NON_SYNONYMOUS_CODING SLC7A13 MODERATE|MISSENSE|aGg/aAg|R371K|433|SLC7A13|protein_coding|CODING|ENST00000419776|exon_8_87229699_87230060 0/1:99:255,0,255 . 0/1:99:255,0,255 0/1:99:255,0,255 8 87229739 rs4419794 C T NON_SYNONYMOUS_CODING SLC7A13 MODERATE|MISSENSE|aGg/aAg|R380K|470|SLC7A13|protein_coding|CODING|ENST00000297524|exon_8_87229699_87230060 0/1:99:255,0,255 . 0/1:99:255,0,255 0/1:99:255,0,255 8 87460461 . G A NON_SYNONYMOUS_CODING WWP1 MODERATE|MISSENSE|Gat/Aat|D477N|704|WWP1|protein_coding|CODING|ENST00000349423|exon_8_87460377_87460510 . . 0/1:99:255,0,255 . 8 87460461 . G A NON_SYNONYMOUS_CODING WWP1 MODERATE|MISSENSE|Gat/Aat|D565N|792|WWP1|protein_coding|CODING|ENST00000341922|exon_8_87460377_87460510 . . 0/1:99:255,0,255 . 8 87460461 . G A NON_SYNONYMOUS_CODING WWP1 MODERATE|MISSENSE|Gat/Aat|D695N|922|WWP1|protein_coding|CODING|ENST00000265428|exon_8_87460377_87460510 . . 0/1:99:255,0,255 . 8 87460461 . G A NON_SYNONYMOUS_CODING WWP1 MODERATE|MISSENSE|Gat/Aat|D695N|922|WWP1|protein_coding|CODING|ENST00000517970|exon_8_87460377_87460510 . . 0/1:99:255,0,255 . 8 87660100 rs13265557 T C NON_SYNONYMOUS_CODING CNGB3 MODERATE|MISSENSE|Ata/Gta|I307V|809|CNGB3|protein_coding|CODING|ENST00000320005|exon_8_87660029_87660115 0/1:99:255,0,255 . . . 8 90784979 rs2230801 T C NON_SYNONYMOUS_CODING RIPK2 MODERATE|MISSENSE|aTa/aCa|I122T|403|RIPK2|protein_coding|CODING|ENST00000540020|exon_8_90784895_90785056 . . 0/1:99:255,0,255 . 8 90784979 rs2230801 T C NON_SYNONYMOUS_CODING RIPK2 MODERATE|MISSENSE|aTa/aCa|I259T|540|RIPK2|protein_coding|CODING|ENST00000220751|exon_8_90784895_90785056 . . 0/1:99:255,0,255 . 8 90995030 . A G NON_SYNONYMOUS_CODING NBN MODERATE|MISSENSE|Tgt/Cgt|C31R|158|NBN|protein_coding|CODING|ENST00000519426|exon_8_90994950_90995083 . . . 0/1:99:255,0,234 8 90995030 . A G NON_SYNONYMOUS_CODING NBN MODERATE|MISSENSE|Tgt/Cgt|C31R|477|NBN|protein_coding|CODING|ENST00000452387|exon_8_90994950_90995083 . . . 0/1:99:255,0,234 8 90995030 . A G NON_SYNONYMOUS_CODING NBN MODERATE|MISSENSE|Tgt/Cgt|C31R|754|NBN|protein_coding|CODING|ENST00000265433|exon_8_90994950_90995083 . . . 0/1:99:255,0,234 8 92346523 rs16912250 A G NON_SYNONYMOUS_CODING SLC26A7 MODERATE|MISSENSE|Att/Gtt|I215V|656|SLC26A7|protein_coding|CODING|ENST00000276609|exon_8_92346523_92346675 . . 0/1:99:255,0,255 . 8 92346523 rs16912250 A G NON_SYNONYMOUS_CODING SLC26A7 MODERATE|MISSENSE|Att/Gtt|I215V|656|SLC26A7|protein_coding|CODING|ENST00000523719|exon_8_92346523_92346675 . . 0/1:99:255,0,255 . 8 92346523 rs16912250 A G NON_SYNONYMOUS_CODING SLC26A7 MODERATE|MISSENSE|Att/Gtt|I215V|663|SLC26A7|protein_coding|CODING|ENST00000309536|exon_8_92346523_92346675 . . 0/1:99:255,0,255 . 8 94178992 rs191591431 C A NON_SYNONYMOUS_CODING RP11-88J22.1.1 MODERATE|MISSENSE|cGa/cTa|R2L|101|RP11-88J22.1.1|protein_coding|CODING|ENST00000521906|exon_8_94178960_94179079 0/1:99:255,0,244 . . . 8 94738629 rs36117362 G A NON_SYNONYMOUS_CODING FAM92A1 MODERATE|MISSENSE|Gaa/Aaa|E251K|262|FAM92A1|protein_coding|CODING|ENST00000540007|exon_8_94738622_94738741 . 0/1:99:255,0,255 . . 8 94738629 rs36117362 G A NON_SYNONYMOUS_CODING FAM92A1 MODERATE|MISSENSE|cGa/cAa|R184Q|251|FAM92A1|protein_coding|CODING|ENST00000423990|exon_8_94738622_94738741 . 0/1:99:255,0,255 . . 8 94738629 rs36117362 G A NON_SYNONYMOUS_CODING FAM92A1 MODERATE|MISSENSE|cGa/cAa|R184Q|251|FAM92A1|protein_coding|CODING|ENST00000436526|exon_8_94738622_94738741 . 0/1:99:255,0,255 . . 8 94738629 rs36117362 G A NON_SYNONYMOUS_CODING FAM92A1 MODERATE|MISSENSE|cGa/cAa|R222Q|272|FAM92A1|protein_coding|CODING|ENST00000341186|exon_8_94738622_94738741 . 0/1:99:255,0,255 . . 8 94738629 rs36117362 G A NON_SYNONYMOUS_CODING FAM92A1 MODERATE|MISSENSE|cGa/cAa|R222Q|289|FAM92A1|protein_coding|CODING|ENST00000518322|exon_8_94738622_94738741 . 0/1:99:255,0,255 . . 8 94738629 rs36117362 G A NON_SYNONYMOUS_CODING FAM92A1 MODERATE|MISSENSE|cGa/cAa|R67Q|114|FAM92A1|protein_coding|CODING|ENST00000519679|exon_8_94738622_94738932 . 0/1:99:255,0,255 . . 8 94738629 rs36117362 G A NON_SYNONYMOUS_CODING FAM92A1 MODERATE|MISSENSE|cGa/cAa|R67Q|134|FAM92A1|protein_coding|CODING|ENST00000517718|exon_8_94738622_94738741 . 0/1:99:255,0,255 . . 8 94738629 rs36117362 G A NON_SYNONYMOUS_CODING FAM92A1 MODERATE|MISSENSE|cGa/cAa|R67Q|134|FAM92A1|protein_coding|CODING|ENST00000521641|exon_8_94738622_94738741 . 0/1:99:255,0,255 . . 8 94772165 rs73324992 C T NON_SYNONYMOUS_CODING TMEM67 MODERATE|MISSENSE|cCg/cTg|P36L|914|TMEM67|protein_coding|CODING|ENST00000409623|exon_8_94772088_94772221 0/1:99:146,0,255 . . . 8 95272605 rs2170363 G C NON_SYNONYMOUS_CODING GEM MODERATE|MISSENSE|Cgc/Ggc|R43G|296|GEM|protein_coding|CODING|ENST00000297596|exon_8_95272401_95272740 . . . 0/1:99:223,0,200 8 95272605 rs2170363 G C NON_SYNONYMOUS_CODING GEM MODERATE|MISSENSE|Cgc/Ggc|R43G|296|GEM|protein_coding|CODING|ENST00000396194|exon_8_95272401_95272740 . . . 0/1:99:223,0,200 8 95272605 rs2170363 G C NON_SYNONYMOUS_CODING GEM MODERATE|MISSENSE|Cgc/Ggc|R43G|92|GEM|protein_coding|CODING|ENST00000523433|exon_8_95272451_95272740 . . . 0/1:99:223,0,200 8 95541459 rs76706433 A C NON_SYNONYMOUS_CODING KIAA1429 MODERATE|MISSENSE|gTa/gGa|V240G|1147|KIAA1429|protein_coding|CODING|ENST00000421249|exon_8_95541298_95541570 . . . 0/1:99:253,0,255 8 95541459 rs76706433 A C NON_SYNONYMOUS_CODING KIAA1429 MODERATE|MISSENSE|gTa/gGa|V240G|1377|KIAA1429|protein_coding|CODING|ENST00000437199|exon_8_95541298_95541570 . . . 0/1:99:253,0,255 8 95541459 rs76706433 A C NON_SYNONYMOUS_CODING KIAA1429 MODERATE|MISSENSE|gTa/gGa|V240G|1812|KIAA1429|protein_coding|CODING|ENST00000297591|exon_8_95541298_95541570 . . . 0/1:99:253,0,255 8 95559186 rs12334990 T C NON_SYNONYMOUS_CODING AC023632.1 MODERATE|MISSENSE|aTg/aCg|M47T|81|AC023632.1|protein_coding|CODING|ENST00000391679|exon_8_95558771_95560630 . . . 0/1:99:255,0,236 8 96037348 . G C NON_SYNONYMOUS_CODING C8orf38 MODERATE|MISSENSE|Ggg/Cgg|G38R|333|C8orf38|protein_coding|CODING|ENST00000396124|exon_8_96037214_96037433 0/1:99:193,0,210 . . . 8 97614661 rs1042381 T A NON_SYNONYMOUS_CODING SDC2 MODERATE|MISSENSE|Tct/Act|S35T|165|SDC2|protein_coding|CODING|ENST00000518385|exon_8_97614623_97614756 . 1/1:99:255,108,0 . 0/1:99:235,0,255 8 97614661 rs1042381 T A NON_SYNONYMOUS_CODING SDC2 MODERATE|MISSENSE|Tct/Act|S42T|136|SDC2|protein_coding|CODING|ENST00000521590|exon_8_97614623_97614756 . 1/1:99:255,108,0 . 0/1:99:235,0,255 8 97614661 rs1042381 T A NON_SYNONYMOUS_CODING SDC2 MODERATE|MISSENSE|Tct/Act|S42T|136|SDC2|protein_coding|CODING|ENST00000523877|exon_8_97614623_97614756 . 1/1:99:255,108,0 . 0/1:99:235,0,255 8 97614661 rs1042381 T A NON_SYNONYMOUS_CODING SDC2 MODERATE|MISSENSE|Tct/Act|S42T|172|SDC2|protein_coding|CODING|ENST00000519914|exon_8_97614623_97614756 . 1/1:99:255,108,0 . 0/1:99:235,0,255 8 97614661 rs1042381 T A NON_SYNONYMOUS_CODING SDC2 MODERATE|MISSENSE|Tct/Act|S42T|172|SDC2|protein_coding|CODING|ENST00000522911|exon_8_97614623_97614756 . 1/1:99:255,108,0 . 0/1:99:235,0,255 8 97614661 rs1042381 T A NON_SYNONYMOUS_CODING SDC2 MODERATE|MISSENSE|Tct/Act|S61T|191|SDC2|protein_coding|CODING|ENST00000546193|exon_8_97614623_97614756 . 1/1:99:255,108,0 . 0/1:99:235,0,255 8 97614661 rs1042381 T A NON_SYNONYMOUS_CODING SDC2 MODERATE|MISSENSE|Tct/Act|S71T|201|SDC2|protein_coding|CODING|ENST00000302190|exon_8_97614623_97614756 . 1/1:99:255,108,0 . 0/1:99:235,0,255 8 97614661 rs1042381 T A NON_SYNONYMOUS_CODING SDC2 MODERATE|MISSENSE|Tct/Act|S71T|201|SDC2|protein_coding|CODING|ENST00000545117|exon_8_97614623_97614756 . 1/1:99:255,108,0 . 0/1:99:235,0,255 8 98656966 rs17854373 G T NON_SYNONYMOUS_CODING MTDH MODERATE|MISSENSE|Gcc/Tcc|A55S|526|MTDH|protein_coding|CODING|ENST00000519934|exon_8_98656774_98657115 . 0/1:76:73,0,109 . . 8 98656966 rs17854373 G T NON_SYNONYMOUS_CODING MTDH MODERATE|MISSENSE|Gcc/Tcc|A78S|582|MTDH|protein_coding|CODING|ENST00000336273|exon_8_98656407_98657115 . 0/1:76:73,0,109 . . 8 98703317 rs17854374 A G NON_SYNONYMOUS_CODING MTDH MODERATE|MISSENSE|Act/Gct|T294A|526|MTDH|protein_coding|CODING|ENST00000519934|exon_8_98703180_98703416 . 0/1:99:255,0,246 . 0/1:99:255,0,237 8 98703317 rs17854374 A G NON_SYNONYMOUS_CODING MTDH MODERATE|MISSENSE|Act/Gct|T317A|582|MTDH|protein_coding|CODING|ENST00000336273|exon_8_98703180_98703416 . 0/1:99:255,0,246 . 0/1:99:255,0,237 8 98943598 rs2290472 C T NON_SYNONYMOUS_CODING MATN2 MODERATE|MISSENSE|aCg/aTg|T187M|915|MATN2|protein_coding|CODING|ENST00000524308|exon_8_98943181_98943750 . . 0/1:99:161,0,255 . 8 98943598 rs2290472 C T NON_SYNONYMOUS_CODING MATN2 MODERATE|MISSENSE|aCg/aTg|T187M|917|MATN2|protein_coding|CODING|ENST00000378716|exon_8_98943181_98943750 . . 0/1:99:161,0,255 . 8 98943598 rs2290472 C T NON_SYNONYMOUS_CODING MATN2 MODERATE|MISSENSE|aCg/aTg|T187M|937|MATN2|protein_coding|CODING|ENST00000521689|exon_8_98943181_98943750 . . 0/1:99:161,0,255 . 8 98943598 rs2290472 C T NON_SYNONYMOUS_CODING MATN2 MODERATE|MISSENSE|aCg/aTg|T187M|956|MATN2|protein_coding|CODING|ENST00000520016|exon_8_98943181_98943750 . . 0/1:99:161,0,255 . 8 98943598 rs2290472 C T NON_SYNONYMOUS_CODING MATN2 MODERATE|MISSENSE|aCg/aTg|T187M|957|MATN2|protein_coding|CODING|ENST00000254898|exon_8_98943181_98943750 . . 0/1:99:161,0,255 . 8 99153088 rs17184326 A C NON_SYNONYMOUS_CODING POP1 MODERATE|MISSENSE|aaA/aaC|K522N|1024|POP1|protein_coding|CODING|ENST00000349693|exon_8_99152997_99153116 . 0/1:99:207,0,246 . . 8 99153088 rs17184326 A C NON_SYNONYMOUS_CODING POP1 MODERATE|MISSENSE|aaA/aaC|K522N|1024|POP1|protein_coding|CODING|ENST00000401707|exon_8_99152997_99153116 . 0/1:99:207,0,246 . . 8 99168594 rs200026675 A G NON_SYNONYMOUS_CODING POP1 MODERATE|MISSENSE|Agt/Ggt|S792G|1024|POP1|protein_coding|CODING|ENST00000349693|exon_8_99168278_99168640 . 0/1:99:249,0,232 . . 8 99168594 rs200026675 A G NON_SYNONYMOUS_CODING POP1 MODERATE|MISSENSE|Agt/Ggt|S792G|1024|POP1|protein_coding|CODING|ENST00000401707|exon_8_99168278_99168640 . 0/1:99:249,0,232 . . 8 100205255 rs61753721 G A NON_SYNONYMOUS_CODING VPS13B MODERATE|MISSENSE|Gct/Act|A829T|1427|VPS13B|protein_coding|CODING|ENST00000395996|exon_8_100205104_100205285 . . . 0/1:99:255,0,255 8 100205255 rs61753721 G A NON_SYNONYMOUS_CODING VPS13B MODERATE|MISSENSE|Gct/Act|A829T|3997|VPS13B|protein_coding|CODING|ENST00000357162|exon_8_100205104_100205285 . . . 0/1:99:255,0,255 8 100205255 rs61753721 G A NON_SYNONYMOUS_CODING VPS13B MODERATE|MISSENSE|Gct/Act|A829T|4022|VPS13B|protein_coding|CODING|ENST00000358544|exon_8_100205104_100205285 . . . 0/1:99:255,0,255 8 100205255 rs61753721 G A NON_SYNONYMOUS_CODING VPS13B MODERATE|MISSENSE|Gct/Act|A829T|863|VPS13B|protein_coding|CODING|ENST00000355155|exon_8_100205104_100205285 . . . 0/1:99:255,0,255 8 100519372 . G A NON_SYNONYMOUS_CODING VPS13B MODERATE|MISSENSE|Gaa/Aaa|E1389K|1427|VPS13B|protein_coding|CODING|ENST00000395996|exon_8_100519365_100519431 0/1:99:255,0,241 . . . 8 100519372 . G A NON_SYNONYMOUS_CODING VPS13B MODERATE|MISSENSE|Gaa/Aaa|E1389K|3997|VPS13B|protein_coding|CODING|ENST00000357162|exon_8_100519365_100519431 0/1:99:255,0,241 . . . 8 100865836 rs6468694 G A NON_SYNONYMOUS_CODING VPS13B MODERATE|MISSENSE|Ggg/Agg|G3407R|3997|VPS13B|protein_coding|CODING|ENST00000357162|exon_8_100865679_100866484 0/1:99:255,0,211 . 0/1:99:241,0,190 1/1:99:255,87,0 8 100865836 rs6468694 G A NON_SYNONYMOUS_CODING VPS13B MODERATE|MISSENSE|Ggg/Agg|G3432R|4022|VPS13B|protein_coding|CODING|ENST00000358544|exon_8_100865679_100866484 0/1:99:255,0,211 . 0/1:99:241,0,190 1/1:99:255,87,0 8 101011612 rs3133711 G A NON_SYNONYMOUS_CODING RGS22 MODERATE|MISSENSE|Cat/Tat|H258Y|268|RGS22|protein_coding|CODING|ENST00000517828|exon_8_101011575_101011648 0/1:99:255,0,255 . . . 8 101011612 rs3133711 G A NON_SYNONYMOUS_CODING RGS22 MODERATE|MISSENSE|Cat/Tat|H762Y|1083|RGS22|protein_coding|CODING|ENST00000523287|exon_8_101011490_101011648 0/1:99:255,0,255 . . . 8 101011612 rs3133711 G A NON_SYNONYMOUS_CODING RGS22 MODERATE|MISSENSE|Cat/Tat|H930Y|1251|RGS22|protein_coding|CODING|ENST00000427793|exon_8_101011490_101011648 0/1:99:255,0,255 . . . 8 101011612 rs3133711 G A NON_SYNONYMOUS_CODING RGS22 MODERATE|MISSENSE|Cat/Tat|H931Y|1252|RGS22|protein_coding|CODING|ENST00000523437|exon_8_101011490_101011648 0/1:99:255,0,255 . . . 8 101011612 rs3133711 G A NON_SYNONYMOUS_CODING RGS22 MODERATE|MISSENSE|Cat/Tat|H943Y|1264|RGS22|protein_coding|CODING|ENST00000360863|exon_8_101011490_101011648 0/1:99:255,0,255 . . . 8 103876797 . A T NON_SYNONYMOUS_CODING KB-1507C5.2.1 MODERATE|MISSENSE|agA/agT|R73S|86|KB-1507C5.2.1|protein_coding|CODING|ENST00000522939|exon_8_103876528_103876851 . . . 0/1:99:201,0,113 8 103876797 . A T NON_SYNONYMOUS_CODING KB-1507C5.2.1 MODERATE|MISSENSE|agA/agT|R73S|86|KB-1507C5.2.1|protein_coding|CODING|ENST00000524007|exon_8_103876565_103876851 . . . 0/1:99:201,0,113 8 105405014 . G A NON_SYNONYMOUS_CODING DPYS MODERATE|MISSENSE|Cgg/Tgg|R481W|519|DPYS|protein_coding|CODING|ENST00000351513|exon_8_105405012_105405219 0/1:99:240,0,239 . . . 8 107773675 rs36024019 T C NON_SYNONYMOUS_CODING ABRA MODERATE|MISSENSE|Aaa/Gaa|K246E|381|ABRA|protein_coding|CODING|ENST00000311955|exon_8_107771711_107773742 . . 0/1:99:255,0,225 . 8 107782313 rs143020994 A G NON_SYNONYMOUS_CODING ABRA MODERATE|MISSENSE|Tgg/Cgg|W36R|381|ABRA|protein_coding|CODING|ENST00000311955|exon_8_107781751_107782473 0/1:99:116,0,236 . . . 8 110397780 rs62508075 A G NON_SYNONYMOUS_CODING PKHD1L1 MODERATE|MISSENSE|Atc/Gtc|I164V|4243|PKHD1L1|protein_coding|CODING|ENST00000378402|exon_8_110397766_110397859 . 0/1:99:255,0,255 . . 8 110424513 rs147942629 A C NON_SYNONYMOUS_CODING PKHD1L1 MODERATE|MISSENSE|cAg/cCg|Q702P|4243|PKHD1L1|protein_coding|CODING|ENST00000378402|exon_8_110424494_110424643 . . 0/1:99:246,0,255 . 8 110457746 rs201130267 G T NON_SYNONYMOUS_CODING PKHD1L1 MODERATE|MISSENSE|cGc/cTc|R1883L|4243|PKHD1L1|protein_coding|CODING|ENST00000378402|exon_8_110456890_110457874 . . 0/1:99:255,0,179 . 8 110499005 rs189682035 C T NON_SYNONYMOUS_CODING PKHD1L1 MODERATE|MISSENSE|Cgc/Tgc|R207C|1171|PKHD1L1|protein_coding|CODING|ENST00000526472|exon_8_110498877_110499050 . . . 0/1:99:255,0,255 8 110499005 rs189682035 C T NON_SYNONYMOUS_CODING PKHD1L1 MODERATE|MISSENSE|Cgc/Tgc|R3279C|4243|PKHD1L1|protein_coding|CODING|ENST00000378402|exon_8_110498877_110499050 . . . 0/1:99:255,0,255 8 117658742 rs200688884 G A NON_SYNONYMOUS_CODING EIF3H MODERATE|MISSENSE|cCg/cTg|P310L|352|EIF3H|protein_coding|CODING|ENST00000521861|exon_8_117658710_117658842 . . . 0/1:99:201,0,255 8 117658742 rs200688884 G A NON_SYNONYMOUS_CODING EIF3H MODERATE|MISSENSE|cCg/cTg|P324L|366|EIF3H|protein_coding|CODING|ENST00000276682|exon_8_117658710_117658842 . . . 0/1:99:201,0,255 8 120431506 rs11538929 G A NON_SYNONYMOUS_CODING NOV MODERATE|MISSENSE|cGt/cAt|R233H|357|NOV|protein_coding|CODING|ENST00000259526|exon_8_120431371_120431585 0/1:99:164,0,212 . . . 8 120744349 rs956748 T C NON_SYNONYMOUS_CODING TAF2 MODERATE|MISSENSE|Aca/Gca|T1139A|1199|TAF2|protein_coding|CODING|ENST00000378164|exon_8_120743015_120744426 . . 0/1:99:255,0,247 . 8 120744349 rs956748 T C NON_SYNONYMOUS_CODING TAF2 MODERATE|MISSENSE|Aca/Gca|T315A|375|TAF2|protein_coding|CODING|ENST00000529653|exon_8_120744055_120744426 . . 0/1:99:255,0,247 . 8 120744399 rs956749 C T NON_SYNONYMOUS_CODING TAF2 MODERATE|MISSENSE|aGt/aAt|S1122N|1199|TAF2|protein_coding|CODING|ENST00000378164|exon_8_120743015_120744426 . . 0/1:99:255,0,255 . 8 120744399 rs956749 C T NON_SYNONYMOUS_CODING TAF2 MODERATE|MISSENSE|aGt/aAt|S298N|375|TAF2|protein_coding|CODING|ENST00000529653|exon_8_120744055_120744426 . . 0/1:99:255,0,255 . 8 120977489 rs34057546 A G NON_SYNONYMOUS_CODING DEPTOR MODERATE|MISSENSE|aAc/aGc|N148S|409|DEPTOR|protein_coding|CODING|ENST00000286234|exon_8_120977472_120977650 . . 0/1:99:255,0,255 . 8 120977489 rs34057546 A G NON_SYNONYMOUS_CODING DEPTOR MODERATE|MISSENSE|aAc/aGc|N47S|308|DEPTOR|protein_coding|CODING|ENST00000523492|exon_8_120977472_120977650 . . 0/1:99:255,0,255 . 8 120977542 rs34068787 A G NON_SYNONYMOUS_CODING DEPTOR MODERATE|MISSENSE|Atg/Gtg|M166V|409|DEPTOR|protein_coding|CODING|ENST00000286234|exon_8_120977472_120977650 . . . 0/1:99:223,0,254 8 120977542 rs34068787 A G NON_SYNONYMOUS_CODING DEPTOR MODERATE|MISSENSE|Atg/Gtg|M65V|308|DEPTOR|protein_coding|CODING|ENST00000523492|exon_8_120977472_120977650 . . . 0/1:99:223,0,254 8 123964819 rs9649951 G A NON_SYNONYMOUS_CODING ZHX2 MODERATE|MISSENSE|Gtg/Atg|V357M|837|ZHX2|protein_coding|CODING|ENST00000314393|exon_8_123963532_123966268 0/1:99:255,0,241 . . . 8 123964912 rs142123946 G A NON_SYNONYMOUS_CODING ZHX2 MODERATE|MISSENSE|Gtc/Atc|V388I|837|ZHX2|protein_coding|CODING|ENST00000314393|exon_8_123963532_123966268 . . . 0/1:99:169,0,105 8 124089483 rs61753517 C G NON_SYNONYMOUS_CODING WDR67 MODERATE|MISSENSE|aCt/aGt|T4S|43|WDR67|protein_coding|CODING|ENST00000520368|exon_8_124089351_124089497 . . 0/1:99:255,0,241 . 8 124089483 rs61753517 C G NON_SYNONYMOUS_CODING WDR67 MODERATE|MISSENSE|aCt/aGt|T4S|644|WDR67|protein_coding|CODING|ENST00000378080|exon_8_124089351_124089497 . . 0/1:99:255,0,241 . 8 124089483 rs61753517 C G NON_SYNONYMOUS_CODING WDR67 MODERATE|MISSENSE|aCt/aGt|T4S|943|WDR67|protein_coding|CODING|ENST00000521676|exon_8_124089351_124089497 . . 0/1:99:255,0,241 . 8 124089483 rs61753517 C G NON_SYNONYMOUS_CODING WDR67 MODERATE|MISSENSE|aCt/aGt|T4S|961|WDR67|protein_coding|CODING|ENST00000522420|exon_8_124089351_124089497 . . 0/1:99:255,0,241 . 8 124089483 rs61753517 C G NON_SYNONYMOUS_CODING WDR67 MODERATE|MISSENSE|gaC/gaG|D60E|246|WDR67|protein_coding|CODING|ENST00000522276|exon_8_124089351_124089497 . . 0/1:99:255,0,241 . 8 124089483 rs61753517 C G NON_SYNONYMOUS_CODING WDR67 MODERATE|MISSENSE|gaC/gaG|D70E|1001|WDR67|protein_coding|CODING|ENST00000309336|exon_8_124089351_124089497 . . 0/1:99:255,0,241 . 8 124089483 rs61753517 C G NON_SYNONYMOUS_CODING WDR67 MODERATE|MISSENSE|gaC/gaG|D70E|1066|WDR67|protein_coding|CODING|ENST00000287380|exon_8_124089351_124089497 . . 0/1:99:255,0,241 . 8 124089483 rs61753517 C G NON_SYNONYMOUS_CODING WDR67 MODERATE|MISSENSE|gaC/gaG|D70E|970|WDR67|protein_coding|CODING|ENST00000327098|exon_8_124089351_124089497 . . 0/1:99:255,0,241 . 8 124382158 . TTCATCATCATCATCATCATCATCATCGTCATCATCATCATCATC TTCATCATCATCATCATCATCATCGTCATCATCATCATCATC CODON_DELETION ATAD2 MODERATE||gat/-|D270-|1390|ATAD2|protein_coding|CODING|ENST00000287394|exon_8_124382061_124382264 . . 0/1:99:234,0,243 0/1:99:188,0,255 8 124664113 rs11784175 T A NON_SYNONYMOUS_CODING KLHL38 MODERATE|MISSENSE|Aat/Tat|N352Y|581|KLHL38|protein_coding|CODING|ENST00000325995|exon_8_124663817_124665190 . . . 1/1:93:255,48,0 8 124710664 rs6995099 C T NON_SYNONYMOUS_CODING ANXA13 MODERATE|MISSENSE|Gtc/Atc|V108I|316|ANXA13|protein_coding|CODING|ENST00000419625|exon_8_124710629_124710799 . 0/1:99:228,0,255 . 0/1:99:254,0,222 8 124710664 rs6995099 C T NON_SYNONYMOUS_CODING ANXA13 MODERATE|MISSENSE|Gtc/Atc|V149I|357|ANXA13|protein_coding|CODING|ENST00000262219|exon_8_124710629_124710799 . 0/1:99:228,0,255 . 0/1:99:254,0,222 8 124710664 rs6995099 C T NON_SYNONYMOUS_CODING ANXA13 MODERATE|MISSENSE|Gtc/Atc|V79I|112|ANXA13|protein_coding|CODING|ENST00000520519|exon_8_124710629_124710799 . 0/1:99:228,0,255 . 0/1:99:254,0,222 8 124968243 rs74403458 T C NON_SYNONYMOUS_CODING FER1L6 MODERATE|MISSENSE|tTt/tCt|F2S|1857|FER1L6|protein_coding|CODING|ENST00000399018|exon_8_124968225_124968314 . . . 0/1:99:255,0,248 8 124968243 rs74403458 T C NON_SYNONYMOUS_CODING FER1L6 MODERATE|MISSENSE|tTt/tCt|F2S|1857|FER1L6|protein_coding|CODING|ENST00000522917|exon_8_124968232_124968314 . . . 0/1:99:255,0,248 8 125115420 rs56132579 G A NON_SYNONYMOUS_CODING FER1L6 MODERATE|MISSENSE|cGa/cAa|R1720Q|1857|FER1L6|protein_coding|CODING|ENST00000399018|exon_8_125115387_125115550 . . 0/1:99:231,0,255 . 8 125115420 rs56132579 G A NON_SYNONYMOUS_CODING FER1L6 MODERATE|MISSENSE|cGa/cAa|R1720Q|1857|FER1L6|protein_coding|CODING|ENST00000522917|exon_8_125115387_125115550 . . 0/1:99:231,0,255 . 8 125559415 rs34095749 C T NON_SYNONYMOUS_CODING NDUFB9 MODERATE|MISSENSE|Cca/Tca|P157S|178|NDUFB9|protein_coding|CODING|ENST00000518008|exon_8_125559241_125559679 . 0/1:99:255,0,255 . . 8 125562029 rs10195 C T NON_SYNONYMOUS_CODING NDUFB9 MODERATE|MISSENSE|Cct/Tct|P135S|168|NDUFB9|protein_coding|CODING|ENST00000517367|exon_8_125562002_125562219 0/1:99:255,0,223 . 0/1:99:195,0,193 1/1:99:255,78,0 8 125562029 rs10195 C T NON_SYNONYMOUS_CODING NDUFB9 MODERATE|MISSENSE|Cct/Tct|P146S|179|NDUFB9|protein_coding|CODING|ENST00000276689|exon_8_125562002_125562220 0/1:99:255,0,223 . 0/1:99:195,0,193 1/1:99:255,78,0 8 133175736 rs2303995 T C NON_SYNONYMOUS_CODING KCNQ3 MODERATE|MISSENSE|gAa/gGa|E293G|751|KCNQ3|protein_coding|CODING|ENST00000423790|exon_8_133175715_133175741 0/1:99:255,0,224 0/1:99:255,0,255 . . 8 133175736 rs2303995 T C NON_SYNONYMOUS_CODING KCNQ3 MODERATE|MISSENSE|gAa/gGa|E294G|752|KCNQ3|protein_coding|CODING|ENST00000521134|exon_8_133175715_133175741 0/1:99:255,0,224 0/1:99:255,0,255 . . 8 133175736 rs2303995 T C NON_SYNONYMOUS_CODING KCNQ3 MODERATE|MISSENSE|gAa/gGa|E403G|849|KCNQ3|protein_coding|CODING|ENST00000542679|exon_8_133175715_133175741 0/1:99:255,0,224 0/1:99:255,0,255 . . 8 133175736 rs2303995 T C NON_SYNONYMOUS_CODING KCNQ3 MODERATE|MISSENSE|gAa/gGa|E414G|860|KCNQ3|protein_coding|CODING|ENST00000519445|exon_8_133175715_133175741 0/1:99:255,0,224 0/1:99:255,0,255 . . 8 133175736 rs2303995 T C NON_SYNONYMOUS_CODING KCNQ3 MODERATE|MISSENSE|gAa/gGa|E414G|872|KCNQ3|protein_coding|CODING|ENST00000388996|exon_8_133175715_133175741 0/1:99:255,0,224 0/1:99:255,0,255 . . 8 133584558 rs9297853 A G NON_SYNONYMOUS_CODING LRRC6 MODERATE|MISSENSE|aTt/aCt|I206T|206|LRRC6|protein_coding|CODING|ENST00000522789|exon_8_133584447_133584728 0/1:99:254,0,255 . . 0/1:99:227,0,255 8 133584558 rs9297853 A G NON_SYNONYMOUS_CODING LRRC6 MODERATE|MISSENSE|aTt/aCt|I466T|466|LRRC6|protein_coding|CODING|ENST00000250173|exon_8_133584449_133584728 0/1:99:254,0,255 . . 0/1:99:227,0,255 8 133584558 rs9297853 A G NON_SYNONYMOUS_CODING LRRC6 MODERATE|MISSENSE|aTt/aCt|I466T|466|LRRC6|protein_coding|CODING|ENST00000519595|exon_8_133584320_133584728 0/1:99:254,0,255 . . 0/1:99:227,0,255 8 133881996 rs116340633 G A NON_SYNONYMOUS_CODING TG MODERATE|MISSENSE|Ggc/Agc|G67S|2711|TG|protein_coding|CODING|ENST00000377869|exon_8_133881974_133882071 . . . 0/1:99:118,0,185 8 133881996 rs116340633 G A NON_SYNONYMOUS_CODING TG MODERATE|MISSENSE|Ggc/Agc|G67S|2768|TG|protein_coding|CODING|ENST00000220616|exon_8_133881974_133882071 . . . 0/1:99:118,0,185 8 133881996 rs116340633 G A NON_SYNONYMOUS_CODING TG MODERATE|MISSENSE|Ggc/Agc|G67S|887|TG|protein_coding|CODING|ENST00000535932|exon_8_133881974_133882071 . . . 0/1:99:118,0,185 8 134024278 rs61741457 C T NON_SYNONYMOUS_CODING TG MODERATE|MISSENSE|tCg/tTg|S2075L|2711|TG|protein_coding|CODING|ENST00000377869|exon_8_134024146_134024280 . . 0/1:99:255,0,245 . 8 134024278 rs61741457 C T NON_SYNONYMOUS_CODING TG MODERATE|MISSENSE|tCg/tTg|S2132L|2768|TG|protein_coding|CODING|ENST00000220616|exon_8_134024146_134024280 . . 0/1:99:255,0,245 . 8 134024278 rs61741457 C T NON_SYNONYMOUS_CODING TG MODERATE|MISSENSE|tCg/tTg|S265L|901|TG|protein_coding|CODING|ENST00000519543|exon_8_134024146_134024280 . . 0/1:99:255,0,245 . 8 134024278 rs61741457 C T NON_SYNONYMOUS_CODING TG MODERATE|MISSENSE|tCg/tTg|S502L|1138|TG|protein_coding|CODING|ENST00000542445|exon_8_134024146_134024280 . . 0/1:99:255,0,245 . 8 134024278 rs61741457 C T NON_SYNONYMOUS_CODING TG MODERATE|MISSENSE|tCg/tTg|S938L|1574|TG|protein_coding|CODING|ENST00000543313|exon_8_134024146_134024280 . . 0/1:99:255,0,245 . 8 134233024 rs72731540 G A NON_SYNONYMOUS_CODING WISP1 MODERATE|MISSENSE|Gta/Ata|V184I|367|WISP1|protein_coding|CODING|ENST00000250160|exon_8_134232824_134233084 . . 0/1:99:206,0,255 . 8 135614571 rs189623686 C T NON_SYNONYMOUS_CODING ZFAT MODERATE|MISSENSE|cGc/cAc|R402H|1181|ZFAT|protein_coding|CODING|ENST00000523399|exon_8_135613720_135615176 0/1:99:194,0,254 . . . 8 135614571 rs189623686 C T NON_SYNONYMOUS_CODING ZFAT MODERATE|MISSENSE|cGc/cAc|R452H|1145|ZFAT|protein_coding|CODING|ENST00000520356|exon_8_135613720_135615176 0/1:99:194,0,254 . . . 8 135614571 rs189623686 C T NON_SYNONYMOUS_CODING ZFAT MODERATE|MISSENSE|cGc/cAc|R452H|1156|ZFAT|protein_coding|CODING|ENST00000429442|exon_8_135613720_135615176 0/1:99:194,0,254 . . . 8 135614571 rs189623686 C T NON_SYNONYMOUS_CODING ZFAT MODERATE|MISSENSE|cGc/cAc|R452H|1231|ZFAT|protein_coding|CODING|ENST00000520214|exon_8_135613720_135615176 0/1:99:194,0,254 . . . 8 135614571 rs189623686 C T NON_SYNONYMOUS_CODING ZFAT MODERATE|MISSENSE|cGc/cAc|R452H|1231|ZFAT|protein_coding|CODING|ENST00000520727|exon_8_135613720_135615176 0/1:99:194,0,254 . . . 8 135614571 rs189623686 C T NON_SYNONYMOUS_CODING ZFAT MODERATE|MISSENSE|cGc/cAc|R464H|1243|ZFAT|protein_coding|CODING|ENST00000377838|exon_8_135613720_135615176 0/1:99:194,0,254 . . . 8 141672789 . AGTCAATGTC AGTC CODON_DELETION PTK2 MODERATE||tggacattg/tgg|WTL39W|119|PTK2|protein_coding|CODING|ENST00000523435|exon_8_141672747_141673183 . 0/1:99:137,0,255 . . 8 141672789 . AGTCAATGTC AGTC CODON_DELETION PTK2 MODERATE||tggacattg/tgg|WTL39W|67|PTK2|protein_coding|CODING|ENST00000522950|exon_8_141672747_141673187 . 0/1:99:137,0,255 . . 8 141856602 rs56176100 A T NON_SYNONYMOUS_CODING PTK2 MODERATE|MISSENSE|aTc/aAc|I6N|553|PTK2|protein_coding|CODING|ENST00000342207|exon_8_141856600_141856607 . . 0/1:99:255,0,255 . 8 143959219 rs11775687 G A NON_SYNONYMOUS_CODING CYP11B1 MODERATE|MISSENSE|Cca/Tca|P188S|574|CYP11B1|protein_coding|CODING|ENST00000377675|exon_8_143959173_143959250 . 0/1:99:216,0,255 0/1:99:255,0,150 . 8 144295183 rs11538389 G T NON_SYNONYMOUS_CODING GPIHBP1 MODERATE|MISSENSE|tGc/tTc|C14F|184|GPIHBP1|protein_coding|CODING|ENST00000330824|exon_8_144295068_144295194 0/1:99:121,0,149 . . 0/1:35:222,0,32 8 144332248 rs147227382 A G NON_SYNONYMOUS_CODING ZFP41 MODERATE|MISSENSE|Att/Gtt|I79V|198|ZFP41|protein_coding|CODING|ENST00000330701|exon_8_144331860_144333510 . 0/1:99:181,0,255 . . 8 144332248 rs147227382 A G NON_SYNONYMOUS_CODING ZFP41 MODERATE|MISSENSE|Att/Gtt|I79V|198|ZFP41|protein_coding|CODING|ENST00000520584|exon_8_144331860_144333510 . 0/1:99:181,0,255 . . 8 144332248 rs147227382 A G NON_SYNONYMOUS_CODING ZFP41 MODERATE|MISSENSE|Att/Gtt|I79V|198|ZFP41|protein_coding|CODING|ENST00000522452|exon_8_144331860_144333510 . 0/1:99:181,0,255 . . 8 144522222 rs112624965 G C NON_SYNONYMOUS_CODING ZC3H3 MODERATE|MISSENSE|aCc/aGc|T935S|948|ZC3H3|protein_coding|CODING|ENST00000262577|exon_8_144522211_144522533 . . 0/1:60:57,0,255 . 8 144590049 rs116930274 G A NON_SYNONYMOUS_CODING ZC3H3 MODERATE|MISSENSE|Cgg/Tgg|R528W|948|ZC3H3|protein_coding|CODING|ENST00000262577|exon_8_144589916_144590069 . 0/1:99:219,0,255 . . 8 144620246 rs72691463 A G NON_SYNONYMOUS_CODING ZC3H3 MODERATE|MISSENSE|Tct/Cct|S431P|948|ZC3H3|protein_coding|CODING|ENST00000262577|exon_8_144620173_144621490 . . . 0/1:99:148,0,168 8 144772285 rs61997231 A G NON_SYNONYMOUS_CODING ZNF707 MODERATE|MISSENSE|Atg/Gtg|M3V|133|ZNF707|protein_coding|CODING|ENST00000530574|exon_8_144772227_144772293 . . 0/1:99:255,0,120 . 8 144772285 rs61997231 A G NON_SYNONYMOUS_CODING ZNF707 MODERATE|MISSENSE|Atg/Gtg|M3V|140|ZNF707|protein_coding|CODING|ENST00000534303|exon_8_144772227_144772293 . . 0/1:99:255,0,120 . 8 144772285 rs61997231 A G NON_SYNONYMOUS_CODING ZNF707 MODERATE|MISSENSE|Atg/Gtg|M3V|371|ZNF707|protein_coding|CODING|ENST00000358656|exon_8_144772227_144772293 . . 0/1:99:255,0,120 . 8 144772285 rs61997231 A G NON_SYNONYMOUS_CODING ZNF707 MODERATE|MISSENSE|Atg/Gtg|M3V|371|ZNF707|protein_coding|CODING|ENST00000418203|exon_8_144772227_144772293 . . 0/1:99:255,0,120 . 8 144772285 rs61997231 A G NON_SYNONYMOUS_CODING ZNF707 MODERATE|MISSENSE|Atg/Gtg|M3V|371|ZNF707|protein_coding|CODING|ENST00000454097|exon_8_144772227_144772293 . . 0/1:99:255,0,120 . 8 144772285 rs61997231 A G NON_SYNONYMOUS_CODING ZNF707 MODERATE|MISSENSE|Atg/Gtg|M3V|371|ZNF707|protein_coding|CODING|ENST00000532158|exon_8_144772227_144772293 . . 0/1:99:255,0,120 . 8 144772285 rs61997231 A G NON_SYNONYMOUS_CODING ZNF707 MODERATE|MISSENSE|Atg/Gtg|M3V|371|ZNF707|protein_coding|CODING|ENST00000532205|exon_8_144772227_144772293 . . 0/1:99:255,0,120 . 8 144772285 rs61997231 A G NON_SYNONYMOUS_CODING ZNF707 MODERATE|MISSENSE|Atg/Gtg|M3V|46|ZNF707|protein_coding|CODING|ENST00000526970|exon_8_144772227_144772293 . . 0/1:99:255,0,120 . 8 144772285 rs61997231 A G NON_SYNONYMOUS_CODING ZNF707 MODERATE|MISSENSE|Atg/Gtg|M3V|78|ZNF707|protein_coding|CODING|ENST00000529833|exon_8_144772227_144772293 . . 0/1:99:255,0,120 . 8 144789973 rs61731375 C A NON_SYNONYMOUS_CODING CCDC166 MODERATE|MISSENSE|Gcg/Tcg|A103S|439|CCDC166|protein_coding|CODING|ENST00000542437|exon_8_144789836_144790279 . . . 0/1:99:186,0,146 8 144810322 rs28573699 G A NON_SYNONYMOUS_CODING FAM83H MODERATE|MISSENSE|Cac/Tac|H437Y|1179|FAM83H|protein_coding|CODING|ENST00000388913|exon_8_144806103_144810893 . . . 1/1:21:105,12,0 8 144892984 rs148555909 C T NON_SYNONYMOUS_CODING SCRIB MODERATE|MISSENSE|Gat/Aat|D345N|1549|SCRIB|protein_coding|CODING|ENST00000377533|exon_8_144892856_144892986 . . . 0/1:87:84,0,107 8 144892984 rs148555909 C T NON_SYNONYMOUS_CODING SCRIB MODERATE|MISSENSE|Gat/Aat|D426N|1630|SCRIB|protein_coding|CODING|ENST00000320476|exon_8_144892856_144892986 . . . 0/1:87:84,0,107 8 144892984 rs148555909 C T NON_SYNONYMOUS_CODING SCRIB MODERATE|MISSENSE|Gat/Aat|D426N|1655|SCRIB|protein_coding|CODING|ENST00000356994|exon_8_144892856_144892986 . . . 0/1:87:84,0,107 8 144940779 rs11781942 G A NON_SYNONYMOUS_CODING EPPK1 MODERATE|MISSENSE|Cgc/Tgc|R2215C|2420|EPPK1|protein_coding|CODING|ENST00000525985|exon_8_144939497_144947466 . . . 0/1:99:244,0,244 8 144941832 rs143485250 C T NON_SYNONYMOUS_CODING EPPK1 MODERATE|MISSENSE|Gtc/Atc|V1864I|2420|EPPK1|protein_coding|CODING|ENST00000525985|exon_8_144939497_144947466 0/1:99:186,0,170 . . . 8 144944399 rs141788635 A C NON_SYNONYMOUS_CODING EPPK1 MODERATE|MISSENSE|aTt/aGt|I1008S|2420|EPPK1|protein_coding|CODING|ENST00000525985|exon_8_144939497_144947466 0/1:99:215,0,216 . . . 8 144944735 rs185987090 C A NON_SYNONYMOUS_CODING EPPK1 MODERATE|MISSENSE|gGt/gTt|G896V|2420|EPPK1|protein_coding|CODING|ENST00000525985|exon_8_144939497_144947466 0/1:99:255,0,226 . . . 8 144993931 rs35261863 C G NON_SYNONYMOUS_CODING PLEC MODERATE|MISSENSE|gGc/gCc|G3321A|4515|PLEC|protein_coding|CODING|ENST00000398774|exon_8_144989321_144996563 . . 0/1:99:175,0,230 . 8 144993931 rs35261863 C G NON_SYNONYMOUS_CODING PLEC MODERATE|MISSENSE|gGc/gCc|G3331A|4525|PLEC|protein_coding|CODING|ENST00000354958|exon_8_144989321_144996563 . . 0/1:99:175,0,230 . 8 144993931 rs35261863 C G NON_SYNONYMOUS_CODING PLEC MODERATE|MISSENSE|gGc/gCc|G3339A|4533|PLEC|protein_coding|CODING|ENST00000356346|exon_8_144989321_144996563 . . 0/1:99:175,0,230 . 8 144993931 rs35261863 C G NON_SYNONYMOUS_CODING PLEC MODERATE|MISSENSE|gGc/gCc|G3353A|4547|PLEC|protein_coding|CODING|ENST00000345136|exon_8_144989321_144996563 . . 0/1:99:175,0,230 . 8 144993931 rs35261863 C G NON_SYNONYMOUS_CODING PLEC MODERATE|MISSENSE|gGc/gCc|G3353A|4547|PLEC|protein_coding|CODING|ENST00000354589|exon_8_144989321_144996563 . . 0/1:99:175,0,230 . 8 144993931 rs35261863 C G NON_SYNONYMOUS_CODING PLEC MODERATE|MISSENSE|gGc/gCc|G3357A|4551|PLEC|protein_coding|CODING|ENST00000357649|exon_8_144989321_144996563 . . 0/1:99:175,0,230 . 8 144993931 rs35261863 C G NON_SYNONYMOUS_CODING PLEC MODERATE|MISSENSE|gGc/gCc|G3376A|4570|PLEC|protein_coding|CODING|ENST00000527096|exon_8_144990345_144996563 . . 0/1:99:175,0,230 . 8 144993931 rs35261863 C G NON_SYNONYMOUS_CODING PLEC MODERATE|MISSENSE|gGc/gCc|G3380A|4574|PLEC|protein_coding|CODING|ENST00000436759|exon_8_144989321_144996563 . . 0/1:99:175,0,230 . 8 144993931 rs35261863 C G NON_SYNONYMOUS_CODING PLEC MODERATE|MISSENSE|gGc/gCc|G3490A|4684|PLEC|protein_coding|CODING|ENST00000322810|exon_8_144989321_144996563 . . 0/1:99:175,0,230 . 8 145024786 . T A NON_SYNONYMOUS_CODING PLEC MODERATE|MISSENSE|gAc/gTc|D30V|4684|PLEC|protein_coding|CODING|ENST00000322810|exon_8_145024352_145025044 . 0/1:99:175,0,199 . . 8 145024793 . T G NON_SYNONYMOUS_CODING PLEC MODERATE|MISSENSE|Aag/Cag|K28Q|4684|PLEC|protein_coding|CODING|ENST00000322810|exon_8_145024352_145025044 . 0/1:99:185,0,222 . . 8 145154222 rs34674752 G A NON_SYNONYMOUS_CODING SHARPIN MODERATE|MISSENSE|Cct/Tct|P294S|326|SHARPIN|protein_coding|CODING|ENST00000359551|exon_8_145154180_145154333 . . . 1/1:99:255,51,0 8 145154222 rs34674752 G A NON_SYNONYMOUS_CODING SHARPIN MODERATE|MISSENSE|Cct/Tct|P294S|387|SHARPIN|protein_coding|CODING|ENST00000398712|exon_8_145154180_145154333 . . . 1/1:99:255,51,0 8 145154222 rs34674752 G A NON_SYNONYMOUS_CODING SHARPIN MODERATE|MISSENSE|Cct/Tct|P2S|95|SHARPIN|protein_coding|CODING|ENST00000532536|exon_8_145154180_145154225 . . . 1/1:99:255,51,0 8 145164518 rs34324679 C A NON_SYNONYMOUS_CODING KIAA1875 MODERATE|MISSENSE|caC/caA|H427Q|1622|KIAA1875|protein_coding|CODING|ENST00000323662|exon_8_145164238_145164937 0/1:99:168,0,145 . . . 8 145541766 rs55962377 G T NON_SYNONYMOUS_CODING DGAT1 MODERATE|MISSENSE|aCc/aAc|T248N|488|DGAT1|protein_coding|CODING|ENST00000332324|exon_8_145541758_145541832 . . . 0/1:99:160,0,203 8 145541766 rs55962377 G T NON_SYNONYMOUS_CODING DGAT1 MODERATE|MISSENSE|gaC/gaA|D278E|313|DGAT1|protein_coding|CODING|ENST00000531896|exon_8_145541758_145542025 . . . 0/1:99:160,0,203 8 145626438 rs137926644 C T NON_SYNONYMOUS_CODING CPSF1 MODERATE|MISSENSE|cGa/cAa|R140Q|1443|CPSF1|protein_coding|CODING|ENST00000349769|exon_8_145626318_145626469 0/1:99:245,0,197 . . . 8 145626438 rs137926644 C T NON_SYNONYMOUS_CODING CPSF1 MODERATE|MISSENSE|cGa/cAa|R140Q|173|CPSF1|protein_coding|CODING|ENST00000531042|exon_8_145626333_145626469 0/1:99:245,0,197 . . . 8 145999616 rs3830702 CTTT C CODON_DELETION ZNF34 MODERATE||aaa/-|K168-|489|ZNF34|protein_coding|CODING|ENST00000527190|exon_8_145997611_145999990 0/1:99:255,0,255 0/1:99:255,0,255 . . 8 145999616 rs3830702 CTTT C CODON_DELETION ZNF34 MODERATE||aaa/-|K178-|263|ZNF34|protein_coding|CODING|ENST00000534337|exon_8_145999357_145999990 0/1:99:255,0,255 0/1:99:255,0,255 . . 8 145999616 rs3830702 CTTT C CODON_DELETION ZNF34 MODERATE||aaa/-|K198-|519|ZNF34|protein_coding|CODING|ENST00000449516|exon_8_145997611_145999990 0/1:99:255,0,255 0/1:99:255,0,255 . . 8 145999616 rs3830702 CTTT C CODON_DELETION ZNF34 MODERATE||aaa/-|K218-|539|ZNF34|protein_coding|CODING|ENST00000429371|exon_8_145998499_145999990 0/1:99:255,0,255 0/1:99:255,0,255 . . 8 145999616 rs3830702 CTTT C CODON_DELETION ZNF34 MODERATE||aaa/-|K239-|560|ZNF34|protein_coding|CODING|ENST00000343459|exon_8_145998499_145999990 0/1:99:255,0,255 0/1:99:255,0,255 . . 8 146033016 . G A NON_SYNONYMOUS_CODING ZNF517 MODERATE|MISSENSE|Ggg/Agg|G239R|492|ZNF517|protein_coding|CODING|ENST00000359971|exon_8_146032576_146034529 0/1:99:188,0,244 . . . 8 146033016 . G A NON_SYNONYMOUS_CODING ZNF517 MODERATE|MISSENSE|Ggg/Agg|G239R|492|ZNF517|protein_coding|CODING|ENST00000531720|exon_8_146032576_146033871 0/1:99:188,0,244 . . . 8 146056367 rs2722476 G A NON_SYNONYMOUS_CODING ZNF7 MODERATE|MISSENSE|cGt/cAt|R61H|145|ZNF7|protein_coding|CODING|ENST00000533314|exon_8_146056316_146056414 0/1:99:242,0,246 . . . 8 146062872 rs138582829 C T NON_SYNONYMOUS_CODING ZNF7 MODERATE|MISSENSE|gCa/gTa|A109V|145|ZNF7|protein_coding|CODING|ENST00000533314|exon_8_146062776_146062892 . . . 0/1:99:207,0,185 8 146062872 rs138582829 C T NON_SYNONYMOUS_CODING ZNF7 MODERATE|MISSENSE|gCa/gTa|A75V|155|ZNF7|protein_coding|CODING|ENST00000527218|exon_8_146062779_146062892 . . . 0/1:99:207,0,185 8 146062872 rs138582829 C T NON_SYNONYMOUS_CODING ZNF7 MODERATE|MISSENSE|gCa/gTa|A75V|86|ZNF7|protein_coding|CODING|ENST00000529819|exon_8_146062779_146062892 . . . 0/1:99:207,0,185 8 146062872 rs138582829 C T NON_SYNONYMOUS_CODING ZNF7 MODERATE|MISSENSE|gCa/gTa|A76V|134|ZNF7|protein_coding|CODING|ENST00000528130|exon_8_146062776_146062892 . . . 0/1:99:207,0,185 8 146062872 rs138582829 C T NON_SYNONYMOUS_CODING ZNF7 MODERATE|MISSENSE|gCa/gTa|A76V|148|ZNF7|protein_coding|CODING|ENST00000525266|exon_8_146062776_146062892 . . . 0/1:99:207,0,185 8 146062872 rs138582829 C T NON_SYNONYMOUS_CODING ZNF7 MODERATE|MISSENSE|gCa/gTa|A76V|240|ZNF7|protein_coding|CODING|ENST00000532777|exon_8_146062776_146062892 . . . 0/1:99:207,0,185 8 146062872 rs138582829 C T NON_SYNONYMOUS_CODING ZNF7 MODERATE|MISSENSE|gCa/gTa|A76V|686|ZNF7|protein_coding|CODING|ENST00000325241|exon_8_146062776_146062892 . . . 0/1:99:207,0,185 8 146062872 rs138582829 C T NON_SYNONYMOUS_CODING ZNF7 MODERATE|MISSENSE|gCa/gTa|A76V|686|ZNF7|protein_coding|CODING|ENST00000528372|exon_8_146062776_146062892 . . . 0/1:99:207,0,185 8 146062872 rs138582829 C T NON_SYNONYMOUS_CODING ZNF7 MODERATE|MISSENSE|gCa/gTa|A87V|159|ZNF7|protein_coding|CODING|ENST00000325217|exon_8_146062776_146062892 . . . 0/1:99:207,0,185 8 146062872 rs138582829 C T NON_SYNONYMOUS_CODING ZNF7 MODERATE|MISSENSE|gCa/gTa|A87V|697|ZNF7|protein_coding|CODING|ENST00000446747|exon_8_146062776_146062892 . . . 0/1:99:207,0,185 9 214804 rs76707254 A G NON_SYNONYMOUS_CODING C9orf66 MODERATE|MISSENSE|gTc/gCc|V198A|295|C9orf66|protein_coding|CODING|ENST00000382387|exon_9_213108_215893 0/1:99:183,0,179 . . . 9 215060 rs141134256 G T NON_SYNONYMOUS_CODING C9orf66 MODERATE|MISSENSE|Cgc/Agc|R113S|295|C9orf66|protein_coding|CODING|ENST00000382387|exon_9_213108_215893 . . 0/1:99:195,0,206 . 9 420470 . A G NON_SYNONYMOUS_CODING DOCK8 MODERATE|MISSENSE|Atg/Gtg|M1204V|1999|DOCK8|protein_coding|CODING|ENST00000469391|exon_9_420401_420583 . 0/1:99:255,0,132 . . 9 420470 . A G NON_SYNONYMOUS_CODING DOCK8 MODERATE|MISSENSE|Atg/Gtg|M1236V|2031|DOCK8|protein_coding|CODING|ENST00000432829|exon_9_420401_420583 . 0/1:99:255,0,132 . . 9 420470 . A G NON_SYNONYMOUS_CODING DOCK8 MODERATE|MISSENSE|Atg/Gtg|M1272V|1989|DOCK8|protein_coding|CODING|ENST00000287364|exon_9_420401_420583 . 0/1:99:255,0,132 . . 9 420470 . A G NON_SYNONYMOUS_CODING DOCK8 MODERATE|MISSENSE|Atg/Gtg|M1304V|2099|DOCK8|protein_coding|CODING|ENST00000453981|exon_9_420401_420583 . 0/1:99:255,0,132 . . 9 420470 . A G NON_SYNONYMOUS_CODING DOCK8 MODERATE|MISSENSE|Atg/Gtg|M771V|1566|DOCK8|protein_coding|CODING|ENST00000382329|exon_9_420401_420583 . 0/1:99:255,0,132 . . 9 449874 rs34908836 G C NON_SYNONYMOUS_CODING DOCK8 MODERATE|MISSENSE|Gca/Cca|A1437P|1566|DOCK8|protein_coding|CODING|ENST00000382329|exon_9_449784_449927 . 0/1:99:250,0,255 . . 9 449874 rs34908836 G C NON_SYNONYMOUS_CODING DOCK8 MODERATE|MISSENSE|Gca/Cca|A1870P|1999|DOCK8|protein_coding|CODING|ENST00000469391|exon_9_449784_449927 . 0/1:99:250,0,255 . . 9 449874 rs34908836 G C NON_SYNONYMOUS_CODING DOCK8 MODERATE|MISSENSE|Gca/Cca|A1902P|2031|DOCK8|protein_coding|CODING|ENST00000432829|exon_9_449784_449927 . 0/1:99:250,0,255 . . 9 449874 rs34908836 G C NON_SYNONYMOUS_CODING DOCK8 MODERATE|MISSENSE|Gca/Cca|A1938P|1989|DOCK8|protein_coding|CODING|ENST00000287364|exon_9_449784_449927 . 0/1:99:250,0,255 . . 9 449874 rs34908836 G C NON_SYNONYMOUS_CODING DOCK8 MODERATE|MISSENSE|Gca/Cca|A1970P|2099|DOCK8|protein_coding|CODING|ENST00000453981|exon_9_449784_449927 . 0/1:99:250,0,255 . . 9 712035 rs137918238 G C NON_SYNONYMOUS_CODING KANK1 MODERATE|MISSENSE|aaG/aaC|K265N|1194|KANK1|protein_coding|CODING|ENST00000382293|exon_9_710804_713464 . 0/1:99:250,0,255 . . 9 712035 rs137918238 G C NON_SYNONYMOUS_CODING KANK1 MODERATE|MISSENSE|aaG/aaC|K423N|1352|KANK1|protein_coding|CODING|ENST00000382297|exon_9_710804_713464 . 0/1:99:250,0,255 . . 9 712035 rs137918238 G C NON_SYNONYMOUS_CODING KANK1 MODERATE|MISSENSE|aaG/aaC|K423N|1352|KANK1|protein_coding|CODING|ENST00000382303|exon_9_710804_713464 . 0/1:99:250,0,255 . . 9 712035 rs137918238 G C NON_SYNONYMOUS_CODING KANK1 MODERATE|MISSENSE|aaG/aaC|K423N|978|KANK1|protein_coding|CODING|ENST00000354485|exon_9_710804_713464 . 0/1:99:250,0,255 . . 9 713027 rs148027754 T G NON_SYNONYMOUS_CODING KANK1 MODERATE|MISSENSE|gTg/gGg|V596G|1194|KANK1|protein_coding|CODING|ENST00000382293|exon_9_710804_713464 . 0/1:99:235,0,255 . . 9 713027 rs148027754 T G NON_SYNONYMOUS_CODING KANK1 MODERATE|MISSENSE|gTg/gGg|V754G|1352|KANK1|protein_coding|CODING|ENST00000382297|exon_9_710804_713464 . 0/1:99:235,0,255 . . 9 713027 rs148027754 T G NON_SYNONYMOUS_CODING KANK1 MODERATE|MISSENSE|gTg/gGg|V754G|1352|KANK1|protein_coding|CODING|ENST00000382303|exon_9_710804_713464 . 0/1:99:235,0,255 . . 9 713027 rs148027754 T G NON_SYNONYMOUS_CODING KANK1 MODERATE|MISSENSE|gTg/gGg|V754G|978|KANK1|protein_coding|CODING|ENST00000354485|exon_9_710804_713464 . 0/1:99:235,0,255 . . 9 894044 rs140506267 A G NON_SYNONYMOUS_CODING DMRT1 MODERATE|MISSENSE|aAt/aGt|N224S|373|DMRT1|protein_coding|CODING|ENST00000382276|exon_9_893912_894195 0/1:99:255,0,255 . . . 9 894044 rs140506267 A G NON_SYNONYMOUS_CODING DMRT1 MODERATE|MISSENSE|aAt/aGt|N66S|215|DMRT1|protein_coding|CODING|ENST00000569227|exon_9_893912_894195 0/1:99:255,0,255 . . . 9 1056959 rs17641078 G C NON_SYNONYMOUS_CODING DMRT2 MODERATE|MISSENSE|Gaa/Caa|E458Q|561|DMRT2|protein_coding|CODING|ENST00000302441|exon_9_1056216_1057550 0/1:99:134,0,250 0/1:99:225,0,255 . . 9 1056959 rs17641078 G C NON_SYNONYMOUS_CODING DMRT2 MODERATE|MISSENSE|Gaa/Caa|E458Q|561|DMRT2|protein_coding|CODING|ENST00000358146|exon_9_1056216_1057552 0/1:99:134,0,250 0/1:99:225,0,255 . . 9 1056959 rs17641078 G C NON_SYNONYMOUS_CODING DMRT2 MODERATE|MISSENSE|Gaa/Caa|E458Q|561|DMRT2|protein_coding|CODING|ENST00000382251|exon_9_1056216_1057550 0/1:99:134,0,250 0/1:99:225,0,255 . . 9 4617999 rs41302077 G C NON_SYNONYMOUS_CODING C9orf68 MODERATE|MISSENSE|Cac/Gac|H184D|269|C9orf68|protein_coding|CODING|ENST00000381895|exon_9_4617923_4618110 . . 0/1:99:255,0,249 . 9 4617999 rs41302077 G C NON_SYNONYMOUS_CODING C9orf68 MODERATE|MISSENSE|Cac/Gac|H249D|334|C9orf68|protein_coding|CODING|ENST00000475086|exon_9_4617923_4618110 . . 0/1:99:255,0,249 . 9 4617999 rs41302077 G C NON_SYNONYMOUS_CODING C9orf68 MODERATE|MISSENSE|Cac/Gac|H307D|392|C9orf68|protein_coding|CODING|ENST00000454239|exon_9_4617923_4618110 . . 0/1:99:255,0,249 . 9 4625415 rs45463394 T C NON_SYNONYMOUS_CODING C9orf68 MODERATE|MISSENSE|cAt/cGt|H136R|334|C9orf68|protein_coding|CODING|ENST00000475086|exon_9_4625327_4625566 . . 0/1:99:224,0,251 . 9 4625415 rs45463394 T C NON_SYNONYMOUS_CODING C9orf68 MODERATE|MISSENSE|cAt/cGt|H194R|392|C9orf68|protein_coding|CODING|ENST00000454239|exon_9_4625327_4625566 . . 0/1:99:224,0,251 . 9 4625415 rs45463394 T C NON_SYNONYMOUS_CODING C9orf68 MODERATE|MISSENSE|cAt/cGt|H208R|291|C9orf68|protein_coding|CODING|ENST00000381890|exon_9_4625327_4625566 . . 0/1:99:224,0,251 . 9 4625415 rs45463394 T C NON_SYNONYMOUS_CODING C9orf68 MODERATE|MISSENSE|cAt/cGt|H71R|269|C9orf68|protein_coding|CODING|ENST00000381895|exon_9_4625327_4625566 . . 0/1:99:224,0,251 . 9 5832928 rs13283149 G C NON_SYNONYMOUS_CODING ERMP1 MODERATE|MISSENSE|Cga/Gga|R34G|904|ERMP1|protein_coding|CODING|ENST00000339450|exon_9_5832690_5833117 . . . 0/1:99:111,0,195 9 12694063 rs141834891 C T NON_SYNONYMOUS_CODING TYRP1 MODERATE|MISSENSE|Cgg/Tgg|R23W|101|TYRP1|protein_coding|CODING|ENST00000473763|exon_9_12693912_12694303 . 0/1:99:255,0,242 . . 9 12694063 rs141834891 C T NON_SYNONYMOUS_CODING TYRP1 MODERATE|MISSENSE|Cgg/Tgg|R23W|537|TYRP1|protein_coding|CODING|ENST00000388918|exon_9_12693912_12694381 . 0/1:99:255,0,242 . . 9 13150558 rs188840960 A C NON_SYNONYMOUS_CODING MPDZ MODERATE|MISSENSE|agT/agG|S1144R|1950|MPDZ|protein_coding|CODING|ENST00000399902|exon_9_13150510_13150687 . 0/1:99:205,0,255 . . 9 13150558 rs188840960 A C NON_SYNONYMOUS_CODING MPDZ MODERATE|MISSENSE|agT/agG|S1194R|2008|MPDZ|protein_coding|CODING|ENST00000536827|exon_9_13150510_13150687 . 0/1:99:205,0,255 . . 9 13150558 rs188840960 A C NON_SYNONYMOUS_CODING MPDZ MODERATE|MISSENSE|agT/agG|S1194R|2037|MPDZ|protein_coding|CODING|ENST00000447879|exon_9_13150510_13150687 . 0/1:99:205,0,255 . . 9 13150558 rs188840960 A C NON_SYNONYMOUS_CODING MPDZ MODERATE|MISSENSE|agT/agG|S1194R|2041|MPDZ|protein_coding|CODING|ENST00000381022|exon_9_13150510_13150687 . 0/1:99:205,0,255 . . 9 13150558 rs188840960 A C NON_SYNONYMOUS_CODING MPDZ MODERATE|MISSENSE|agT/agG|S1194R|2041|MPDZ|protein_coding|CODING|ENST00000541718|exon_9_13150510_13150687 . 0/1:99:205,0,255 . . 9 13150558 rs188840960 A C NON_SYNONYMOUS_CODING MPDZ MODERATE|MISSENSE|agT/agG|S1194R|2070|MPDZ|protein_coding|CODING|ENST00000319217|exon_9_13150510_13150687 . 0/1:99:205,0,255 . . 9 13150558 rs188840960 A C NON_SYNONYMOUS_CODING MPDZ MODERATE|MISSENSE|agT/agG|S1194R|2070|MPDZ|protein_coding|CODING|ENST00000381015|exon_9_13150510_13150687 . 0/1:99:205,0,255 . . 9 13150558 rs188840960 A C NON_SYNONYMOUS_CODING MPDZ MODERATE|MISSENSE|agT/agG|S1208R|2084|MPDZ|protein_coding|CODING|ENST00000546205|exon_9_13150510_13150687 . 0/1:99:205,0,255 . . 9 13150558 rs188840960 A C NON_SYNONYMOUS_CODING MPDZ MODERATE|MISSENSE|agT/agG|S200R|1006|MPDZ|protein_coding|CODING|ENST00000545857|exon_9_13150510_13150687 . 0/1:99:205,0,255 . . 9 13150558 rs188840960 A C NON_SYNONYMOUS_CODING MPDZ MODERATE|MISSENSE|agT/agG|S86R|127|MPDZ|protein_coding|CODING|ENST00000542239|exon_9_13150510_13150687 . 0/1:99:205,0,255 . . 9 13150558 rs188840960 A C NON_SYNONYMOUS_CODING MPDZ MODERATE|MISSENSE|agT/agG|S86R|190|MPDZ|protein_coding|CODING|ENST00000433359|exon_9_13150510_13150687 . 0/1:99:205,0,255 . . 9 13150558 rs188840960 A C NON_SYNONYMOUS_CODING MPDZ MODERATE|MISSENSE|agT/agG|S86R|929|MPDZ|protein_coding|CODING|ENST00000538841|exon_9_13150510_13150687 . 0/1:99:205,0,255 . . 9 13223709 rs201101621 C T NON_SYNONYMOUS_CODING MPDZ MODERATE|MISSENSE|Ggt/Agt|G132S|1950|MPDZ|protein_coding|CODING|ENST00000399902|exon_9_13223570_13223709 0/1:99:255,0,255 . . . 9 13223709 rs201101621 C T NON_SYNONYMOUS_CODING MPDZ MODERATE|MISSENSE|Ggt/Agt|G132S|2008|MPDZ|protein_coding|CODING|ENST00000536827|exon_9_13223570_13223709 0/1:99:255,0,255 . . . 9 13223709 rs201101621 C T NON_SYNONYMOUS_CODING MPDZ MODERATE|MISSENSE|Ggt/Agt|G132S|2037|MPDZ|protein_coding|CODING|ENST00000447879|exon_9_13223570_13223709 0/1:99:255,0,255 . . . 9 13223709 rs201101621 C T NON_SYNONYMOUS_CODING MPDZ MODERATE|MISSENSE|Ggt/Agt|G132S|2041|MPDZ|protein_coding|CODING|ENST00000381022|exon_9_13223570_13223709 0/1:99:255,0,255 . . . 9 13223709 rs201101621 C T NON_SYNONYMOUS_CODING MPDZ MODERATE|MISSENSE|Ggt/Agt|G132S|2041|MPDZ|protein_coding|CODING|ENST00000541718|exon_9_13223570_13223709 0/1:99:255,0,255 . . . 9 13223709 rs201101621 C T NON_SYNONYMOUS_CODING MPDZ MODERATE|MISSENSE|Ggt/Agt|G132S|2070|MPDZ|protein_coding|CODING|ENST00000319217|exon_9_13223570_13223709 0/1:99:255,0,255 . . . 9 13223709 rs201101621 C T NON_SYNONYMOUS_CODING MPDZ MODERATE|MISSENSE|Ggt/Agt|G132S|2070|MPDZ|protein_coding|CODING|ENST00000381015|exon_9_13223570_13223709 0/1:99:255,0,255 . . . 9 13223709 rs201101621 C T NON_SYNONYMOUS_CODING MPDZ MODERATE|MISSENSE|Ggt/Agt|G132S|2084|MPDZ|protein_coding|CODING|ENST00000546205|exon_9_13223570_13223709 0/1:99:255,0,255 . . . 9 14775917 rs2101770 T A NON_SYNONYMOUS_CODING FREM1 MODERATE|MISSENSE|aAt/aTt|N112I|715|FREM1|protein_coding|CODING|ENST00000380894|exon_9_14775787_14776254 . 0/1:99:255,0,248 . . 9 14775917 rs2101770 T A NON_SYNONYMOUS_CODING FREM1 MODERATE|MISSENSE|aAt/aTt|N1576I|2179|FREM1|protein_coding|CODING|ENST00000380880|exon_9_14775787_14776201 . 0/1:99:255,0,248 . . 9 14775917 rs2101770 T A NON_SYNONYMOUS_CODING FREM1 MODERATE|MISSENSE|aAt/aTt|N1576I|2179|FREM1|protein_coding|CODING|ENST00000422223|exon_9_14775787_14776201 . 0/1:99:255,0,248 . . 9 14775917 rs2101770 T A NON_SYNONYMOUS_CODING FREM1 MODERATE|MISSENSE|aAt/aTt|N1577I|2180|FREM1|protein_coding|CODING|ENST00000380881|exon_9_14775787_14776201 . 0/1:99:255,0,248 . . 9 14776140 rs10961700 C T NON_SYNONYMOUS_CODING FREM1 MODERATE|MISSENSE|Gtg/Atg|V1502M|2179|FREM1|protein_coding|CODING|ENST00000380880|exon_9_14775787_14776201 . . 0/1:99:255,0,237 . 9 14776140 rs10961700 C T NON_SYNONYMOUS_CODING FREM1 MODERATE|MISSENSE|Gtg/Atg|V1502M|2179|FREM1|protein_coding|CODING|ENST00000422223|exon_9_14775787_14776201 . . 0/1:99:255,0,237 . 9 14776140 rs10961700 C T NON_SYNONYMOUS_CODING FREM1 MODERATE|MISSENSE|Gtg/Atg|V1503M|2180|FREM1|protein_coding|CODING|ENST00000380881|exon_9_14775787_14776201 . . 0/1:99:255,0,237 . 9 14776140 rs10961700 C T NON_SYNONYMOUS_CODING FREM1 MODERATE|MISSENSE|Gtg/Atg|V38M|715|FREM1|protein_coding|CODING|ENST00000380894|exon_9_14775787_14776254 . . 0/1:99:255,0,237 . 9 14789071 rs200716268 G C NON_SYNONYMOUS_CODING FREM1 MODERATE|MISSENSE|tgC/tgG|C1341W|2179|FREM1|protein_coding|CODING|ENST00000380880|exon_9_14788917_14789112 0/1:99:255,0,255 . . . 9 14789071 rs200716268 G C NON_SYNONYMOUS_CODING FREM1 MODERATE|MISSENSE|tgC/tgG|C1341W|2179|FREM1|protein_coding|CODING|ENST00000422223|exon_9_14788917_14789112 0/1:99:255,0,255 . . . 9 14789071 rs200716268 G C NON_SYNONYMOUS_CODING FREM1 MODERATE|MISSENSE|tgC/tgG|C1342W|2180|FREM1|protein_coding|CODING|ENST00000380881|exon_9_14788917_14789112 0/1:99:255,0,255 . . . 9 14801738 rs16932300 G C NON_SYNONYMOUS_CODING FREM1 MODERATE|MISSENSE|agC/agG|S1202R|2179|FREM1|protein_coding|CODING|ENST00000380880|exon_9_14801650_14801872 . 0/1:99:255,0,255 . . 9 14801738 rs16932300 G C NON_SYNONYMOUS_CODING FREM1 MODERATE|MISSENSE|agC/agG|S1202R|2179|FREM1|protein_coding|CODING|ENST00000422223|exon_9_14801650_14801872 . 0/1:99:255,0,255 . . 9 14801738 rs16932300 G C NON_SYNONYMOUS_CODING FREM1 MODERATE|MISSENSE|agC/agG|S1203R|2180|FREM1|protein_coding|CODING|ENST00000380881|exon_9_14801650_14801872 . 0/1:99:255,0,255 . . 9 14819370 rs7023244 G T NON_SYNONYMOUS_CODING FREM1 MODERATE|MISSENSE|tCt/tAt|S803Y|2179|FREM1|protein_coding|CODING|ENST00000380880|exon_9_14819232_14819440 0/1:99:255,0,253 0/1:99:255,0,234 0/1:99:255,0,254 . 9 14819370 rs7023244 G T NON_SYNONYMOUS_CODING FREM1 MODERATE|MISSENSE|tCt/tAt|S803Y|2179|FREM1|protein_coding|CODING|ENST00000422223|exon_9_14819232_14819440 0/1:99:255,0,253 0/1:99:255,0,234 0/1:99:255,0,254 . 9 14819370 rs7023244 G T NON_SYNONYMOUS_CODING FREM1 MODERATE|MISSENSE|tCt/tAt|S804Y|2180|FREM1|protein_coding|CODING|ENST00000380881|exon_9_14819232_14819440 0/1:99:255,0,253 0/1:99:255,0,234 0/1:99:255,0,254 . 9 15187992 rs74561491 A T NON_SYNONYMOUS_CODING TTC39B MODERATE|MISSENSE|Tgc/Agc|C293S|517|TTC39B|protein_coding|CODING|ENST00000507285|exon_9_15187969_15188130 . . 0/1:99:255,0,255 . 9 15187992 rs74561491 A T NON_SYNONYMOUS_CODING TTC39B MODERATE|MISSENSE|Tgc/Agc|C293S|517|TTC39B|protein_coding|CODING|ENST00000507993|exon_9_15187969_15188130 . . 0/1:99:255,0,255 . 9 15187992 rs74561491 A T NON_SYNONYMOUS_CODING TTC39B MODERATE|MISSENSE|Tgc/Agc|C389S|613|TTC39B|protein_coding|CODING|ENST00000297615|exon_9_15187969_15188130 . . 0/1:99:255,0,255 . 9 15187992 rs74561491 A T NON_SYNONYMOUS_CODING TTC39B MODERATE|MISSENSE|Tgc/Agc|C392S|616|TTC39B|protein_coding|CODING|ENST00000355694|exon_9_15187969_15188130 . . 0/1:99:255,0,255 . 9 15187992 rs74561491 A T NON_SYNONYMOUS_CODING TTC39B MODERATE|MISSENSE|Tgc/Agc|C445S|669|TTC39B|protein_coding|CODING|ENST00000380850|exon_9_15187969_15188130 . . 0/1:99:255,0,255 . 9 15187992 rs74561491 A T NON_SYNONYMOUS_CODING TTC39B MODERATE|MISSENSE|Tgc/Agc|C458S|682|TTC39B|protein_coding|CODING|ENST00000512701|exon_9_15187969_15188130 . . 0/1:99:255,0,255 . 9 15249986 . TACCA TA CODON_DELETION TTC39B MODERATE||tctggt/tct|SG60S|69|TTC39B|protein_coding|CODING|ENST00000506891|exon_9_15249916_15250008 . . . 0/1:99:255,0,255 9 15564100 rs117579945 C T NON_SYNONYMOUS_CODING C9orf93 MODERATE|MISSENSE|aCt/aTt|T5I|1229|C9orf93|protein_coding|CODING|ENST00000297641|exon_9_15563976_15564127 . 0/1:99:255,0,255 . . 9 15564100 rs117579945 C T NON_SYNONYMOUS_CODING C9orf93 MODERATE|MISSENSE|aCt/aTt|T5I|1326|C9orf93|protein_coding|CODING|ENST00000380701|exon_9_15563976_15564127 . 0/1:99:255,0,255 . . 9 15564100 rs117579945 C T NON_SYNONYMOUS_CODING C9orf93 MODERATE|MISSENSE|aCt/aTt|T5I|317|C9orf93|protein_coding|CODING|ENST00000535968|exon_9_15563976_15564127 . 0/1:99:255,0,255 . . 9 15744683 rs34816651 G A NON_SYNONYMOUS_CODING C9orf93 MODERATE|MISSENSE|tGt/tAt|C821Y|1229|C9orf93|protein_coding|CODING|ENST00000297641|exon_9_15744271_15744775 0/1:99:236,0,255 . . . 9 15744683 rs34816651 G A NON_SYNONYMOUS_CODING C9orf93 MODERATE|MISSENSE|tGt/tAt|C821Y|1326|C9orf93|protein_coding|CODING|ENST00000380701|exon_9_15744271_15744775 0/1:99:236,0,255 . . . 9 15744683 rs34816651 G A NON_SYNONYMOUS_CODING C9orf93 MODERATE|MISSENSE|tGt/tAt|C88Y|498|C9orf93|protein_coding|CODING|ENST00000380689|exon_9_15744271_15744775 0/1:99:236,0,255 . . . 9 17226262 . G A NON_SYNONYMOUS_CODING CNTLN MODERATE|MISSENSE|Gcc/Acc|A171T|1405|CNTLN|protein_coding|CODING|ENST00000262360|exon_9_17226201_17226285 . 0/1:99:204,0,255 . . 9 17226262 . G A NON_SYNONYMOUS_CODING CNTLN MODERATE|MISSENSE|Gcc/Acc|A171T|1406|CNTLN|protein_coding|CODING|ENST00000380647|exon_9_17226201_17226285 . 0/1:99:204,0,255 . . 9 17226262 . G A NON_SYNONYMOUS_CODING CNTLN MODERATE|MISSENSE|Gcc/Acc|A171T|1406|CNTLN|protein_coding|CODING|ENST00000425824|exon_9_17226201_17226285 . 0/1:99:204,0,255 . . 9 17226262 . G A NON_SYNONYMOUS_CODING CNTLN MODERATE|MISSENSE|Gcc/Acc|A171T|391|CNTLN|protein_coding|CODING|ENST00000380641|exon_9_17226201_17226285 . 0/1:99:204,0,255 . . 9 17273754 rs3808794 A C NON_SYNONYMOUS_CODING CNTLN MODERATE|MISSENSE|gaA/gaC|E291D|1405|CNTLN|protein_coding|CODING|ENST00000262360|exon_9_17273731_17273868 0/1:99:255,0,255 . . . 9 17273754 rs3808794 A C NON_SYNONYMOUS_CODING CNTLN MODERATE|MISSENSE|gaA/gaC|E291D|1406|CNTLN|protein_coding|CODING|ENST00000380647|exon_9_17273731_17273864 0/1:99:255,0,255 . . . 9 17273754 rs3808794 A C NON_SYNONYMOUS_CODING CNTLN MODERATE|MISSENSE|gaA/gaC|E291D|1406|CNTLN|protein_coding|CODING|ENST00000425824|exon_9_17273731_17273868 0/1:99:255,0,255 . . . 9 17273754 rs3808794 A C NON_SYNONYMOUS_CODING CNTLN MODERATE|MISSENSE|gaA/gaC|E291D|391|CNTLN|protein_coding|CODING|ENST00000380641|exon_9_17273731_17273864 0/1:99:255,0,255 . . . 9 17789475 . G A NON_SYNONYMOUS_CODING SH3GL2 MODERATE|MISSENSE|cGt/cAt|R137H|305|SH3GL2|protein_coding|CODING|ENST00000537391|exon_9_17789390_17789548 . . . 0/1:99:255,0,255 9 17789475 . G A NON_SYNONYMOUS_CODING SH3GL2 MODERATE|MISSENSE|cGt/cAt|R162H|224|SH3GL2|protein_coding|CODING|ENST00000397481|exon_9_17789390_17789548 . . . 0/1:99:255,0,255 9 17789475 . G A NON_SYNONYMOUS_CODING SH3GL2 MODERATE|MISSENSE|cGt/cAt|R184H|352|SH3GL2|protein_coding|CODING|ENST00000380607|exon_9_17789390_17789548 . . . 0/1:99:255,0,255 9 18776784 rs2060362 G A NON_SYNONYMOUS_CODING ADAMTSL1 MODERATE|MISSENSE|Ggg/Agg|G853R|1762|ADAMTSL1|protein_coding|CODING|ENST00000380548|exon_9_18776779_18777904 . . 0/1:99:203,0,255 . 9 18941665 rs144484870 C T NON_SYNONYMOUS_CODING FAM154A MODERATE|MISSENSE|Gac/Aac|D131N|474|FAM154A|protein_coding|CODING|ENST00000380534|exon_9_18941635_18941837 . . 0/1:99:255,0,255 . 9 19058743 rs10511670 G C NON_SYNONYMOUS_CODING HAUS6 MODERATE|MISSENSE|caC/caG|H538Q|802|HAUS6|protein_coding|CODING|ENST00000380496|exon_9_19056616_19058999 . . 0/1:99:255,0,197 . 9 19058743 rs10511670 G C NON_SYNONYMOUS_CODING HAUS6 MODERATE|MISSENSE|caC/caG|H674Q|955|HAUS6|protein_coding|CODING|ENST00000380502|exon_9_19057959_19058999 . . 0/1:99:255,0,197 . 9 19080577 rs142022872 G A NON_SYNONYMOUS_CODING HAUS6 MODERATE|MISSENSE|Cgt/Tgt|R186C|802|HAUS6|protein_coding|CODING|ENST00000380496|exon_9_19080477_19080670 0/1:99:251,0,199 . . . 9 19080577 rs142022872 G A NON_SYNONYMOUS_CODING HAUS6 MODERATE|MISSENSE|Cgt/Tgt|R322C|955|HAUS6|protein_coding|CODING|ENST00000380502|exon_9_19080477_19080670 0/1:99:251,0,199 . . . 9 19290794 rs41269019 A C NON_SYNONYMOUS_CODING DENND4C MODERATE|MISSENSE|Att/Ctt|I5L|1673|DENND4C|protein_coding|CODING|ENST00000380437|exon_9_19290749_19290874 . . 0/1:99:197,0,255 . 9 20926306 rs201363252 C A NON_SYNONYMOUS_CODING KIAA1797 MODERATE|MISSENSE|Cct/Act|P990T|1801|KIAA1797|protein_coding|CODING|ENST00000338382|exon_9_20926300_20926416 0/1:99:255,0,255 . . . 9 20926306 rs201363252 C A NON_SYNONYMOUS_CODING KIAA1797 MODERATE|MISSENSE|Cct/Act|P990T|1801|KIAA1797|protein_coding|CODING|ENST00000380249|exon_9_20926300_20926416 0/1:99:255,0,255 . . . 9 21206605 rs28368148 C G NON_SYNONYMOUS_CODING IFNA10 MODERATE|MISSENSE|tgG/tgC|W164C|189|IFNA10|protein_coding|CODING|ENST00000357374|exon_9_21206180_21207142 . . 0/1:99:255,0,252 . 9 21481556 rs1125488 T G NON_SYNONYMOUS_CODING IFNE MODERATE|MISSENSE|caA/caC|Q46H|208|IFNE|protein_coding|CODING|ENST00000448696|exon_9_21480841_21482312 . . 0/1:99:255,0,218 . 9 25678177 . ACGCCGCCGCCGCCGCCGC ACGCCGCCGCCGCCGCCGCCGC CODON_INSERTION TUSC1 MODERATE||-/GCG|-42A|212|TUSC1|protein_coding|CODING|ENST00000358022|exon_9_25676396_25678856 0/1:95:96,0,95 . . . 9 32571037 . T C NON_SYNONYMOUS_CODING NDUFB6 MODERATE|MISSENSE|tAc/tGc|Y65C|113|NDUFB6|protein_coding|CODING|ENST00000350021|exon_9_32570958_32571050 0/1:99:255,0,255 . . . 9 32571037 . T C NON_SYNONYMOUS_CODING NDUFB6 MODERATE|MISSENSE|tAc/tGc|Y65C|128|NDUFB6|protein_coding|CODING|ENST00000379847|exon_9_32570958_32571050 0/1:99:255,0,255 . . . 9 33385600 rs117066088 G A NON_SYNONYMOUS_CODING AQP7 MODERATE|MISSENSE|cCc/cTc|P132L|141|AQP7|protein_coding|CODING|ENST00000541274|exon_9_33385456_33385864 . 0/1:83:80,0,255 . 0/1:72:69,0,255 9 33385603 rs140943510 C T NON_SYNONYMOUS_CODING AQP7 MODERATE|MISSENSE|gGt/gAt|G131D|141|AQP7|protein_coding|CODING|ENST00000541274|exon_9_33385456_33385864 . 0/1:79:76,0,255 . 0/1:77:74,0,255 9 33385828 rs73478963 C T NON_SYNONYMOUS_CODING AQP7 MODERATE|MISSENSE|Gcc/Acc|A124T|193|AQP7|protein_coding|CODING|ENST00000379503|exon_9_33385563_33385864 . 0/1:55:52,0,255 0/1:94:91,0,255 . 9 33385828 rs73478963 C T NON_SYNONYMOUS_CODING AQP7 MODERATE|MISSENSE|Gcc/Acc|A131T|216|AQP7|protein_coding|CODING|ENST00000377425|exon_9_33385647_33385864 . 0/1:55:52,0,255 0/1:94:91,0,255 . 9 33385828 rs73478963 C T NON_SYNONYMOUS_CODING AQP7 MODERATE|MISSENSE|Gcc/Acc|A187T|256|AQP7|protein_coding|CODING|ENST00000379506|exon_9_33385342_33385864 . 0/1:55:52,0,255 0/1:94:91,0,255 . 9 33385828 rs73478963 C T NON_SYNONYMOUS_CODING AQP7 MODERATE|MISSENSE|Gcc/Acc|A187T|341|AQP7|protein_coding|CODING|ENST00000379507|exon_9_33385647_33385864 . 0/1:55:52,0,255 0/1:94:91,0,255 . 9 33385828 rs73478963 C T NON_SYNONYMOUS_CODING AQP7 MODERATE|MISSENSE|Gcc/Acc|A188T|257|AQP7|protein_coding|CODING|ENST00000539936|exon_9_33385359_33385864 . 0/1:55:52,0,255 0/1:94:91,0,255 . 9 33385828 rs73478963 C T NON_SYNONYMOUS_CODING AQP7 MODERATE|MISSENSE|Gcc/Acc|A188T|342|AQP7|protein_coding|CODING|ENST00000297988|exon_9_33385647_33385864 . 0/1:55:52,0,255 0/1:94:91,0,255 . 9 33385828 rs73478963 C T NON_SYNONYMOUS_CODING AQP7 MODERATE|MISSENSE|Gcc/Acc|A56T|141|AQP7|protein_coding|CODING|ENST00000447660|exon_9_33385647_33385864 . 0/1:55:52,0,255 0/1:94:91,0,255 . 9 33385828 rs73478963 C T NON_SYNONYMOUS_CODING AQP7 MODERATE|MISSENSE|Gcc/Acc|A96T|165|AQP7|protein_coding|CODING|ENST00000537089|exon_9_33384765_33385864 . 0/1:55:52,0,255 0/1:94:91,0,255 . 9 33385828 rs73478963 C T NON_SYNONYMOUS_CODING AQP7 MODERATE|MISSENSE|Gcc/Acc|A96T|168|AQP7|protein_coding|CODING|ENST00000439678|exon_9_33385647_33385864 . 0/1:55:52,0,255 0/1:94:91,0,255 . 9 33385828 rs73478963 C T NON_SYNONYMOUS_CODING AQP7 MODERATE|MISSENSE|cGc/cAc|R56H|141|AQP7|protein_coding|CODING|ENST00000541274|exon_9_33385456_33385864 . 0/1:55:52,0,255 0/1:94:91,0,255 . 9 33386167 rs79172651 G C NON_SYNONYMOUS_CODING AQP7 MODERATE|MISSENSE|Cag/Gag|Q13E|141|AQP7|protein_coding|CODING|ENST00000447660|exon_9_33386075_33386193 . . . 0/1:65:62,0,198 9 33386167 rs79172651 G C NON_SYNONYMOUS_CODING AQP7 MODERATE|MISSENSE|Cag/Gag|Q144E|256|AQP7|protein_coding|CODING|ENST00000379506|exon_9_33386075_33386193 . . . 0/1:65:62,0,198 9 33386167 rs79172651 G C NON_SYNONYMOUS_CODING AQP7 MODERATE|MISSENSE|Cag/Gag|Q144E|341|AQP7|protein_coding|CODING|ENST00000379507|exon_9_33386075_33386193 . . . 0/1:65:62,0,198 9 33386167 rs79172651 G C NON_SYNONYMOUS_CODING AQP7 MODERATE|MISSENSE|Cag/Gag|Q145E|257|AQP7|protein_coding|CODING|ENST00000539936|exon_9_33386075_33386193 . . . 0/1:65:62,0,198 9 33386167 rs79172651 G C NON_SYNONYMOUS_CODING AQP7 MODERATE|MISSENSE|Cag/Gag|Q145E|342|AQP7|protein_coding|CODING|ENST00000297988|exon_9_33386075_33386193 . . . 0/1:65:62,0,198 9 33386167 rs79172651 G C NON_SYNONYMOUS_CODING AQP7 MODERATE|MISSENSE|Cag/Gag|Q53E|165|AQP7|protein_coding|CODING|ENST00000537089|exon_9_33386075_33386193 . . . 0/1:65:62,0,198 9 33386167 rs79172651 G C NON_SYNONYMOUS_CODING AQP7 MODERATE|MISSENSE|Cag/Gag|Q53E|168|AQP7|protein_coding|CODING|ENST00000439678|exon_9_33386075_33386193 . . . 0/1:65:62,0,198 9 33386167 rs79172651 G C NON_SYNONYMOUS_CODING AQP7 MODERATE|MISSENSE|Cag/Gag|Q81E|193|AQP7|protein_coding|CODING|ENST00000379503|exon_9_33386075_33386193 . . . 0/1:65:62,0,198 9 33386167 rs79172651 G C NON_SYNONYMOUS_CODING AQP7 MODERATE|MISSENSE|Cag/Gag|Q88E|216|AQP7|protein_coding|CODING|ENST00000377425|exon_9_33386075_33386193 . . . 0/1:65:62,0,198 9 33524512 . A G NON_SYNONYMOUS_CODING ANKRD18B MODERATE|MISSENSE|Aga/Gga|R9G|1011|ANKRD18B|protein_coding|CODING|ENST00000290943|exon_9_33524392_33524693 . . . 0/1:99:162,0,192 9 33566370 rs4141844 A G NON_SYNONYMOUS_CODING ANKRD18B MODERATE|MISSENSE|Aaa/Gaa|K191E|401|ANKRD18B|protein_coding|CODING|ENST00000357927|exon_9_33566217_33566498 . 0/1:99:215,0,255 . . 9 33566370 rs4141844 A G NON_SYNONYMOUS_CODING ANKRD18B MODERATE|MISSENSE|Aaa/Gaa|K810E|1011|ANKRD18B|protein_coding|CODING|ENST00000290943|exon_9_33566217_33566498 . 0/1:99:215,0,255 . . 9 33662424 rs41313962 G A NON_SYNONYMOUS_CODING TRBV25OR9-2 MODERATE|MISSENSE|Gca/Aca|A34T|111|TRBV25OR9-2|protein_coding|CODING|ENST00000438417|exon_9_33662374_33662660 . 0/1:99:255,0,255 . . 9 33662557 rs41302224 G C NON_SYNONYMOUS_CODING TRBV25OR9-2 MODERATE|MISSENSE|tGc/tCc|C78S|111|TRBV25OR9-2|protein_coding|CODING|ENST00000438417|exon_9_33662374_33662660 . 0/1:99:249,0,243 . . 9 33662593 rs16933245 G A NON_SYNONYMOUS_CODING TRBV25OR9-2 MODERATE|MISSENSE|cGt/cAt|R90H|111|TRBV25OR9-2|protein_coding|CODING|ENST00000438417|exon_9_33662374_33662660 . 0/1:99:199,0,211 . . 9 34372347 rs12377 G T NON_SYNONYMOUS_CODING KIAA1161 MODERATE|MISSENSE|Cgc/Agc|R165S|680|KIAA1161|protein_coding|CODING|ENST00000297625|exon_9_34366668_34373004 . . 0/1:99:213,0,212 . 9 34725069 rs114933270 T A NON_SYNONYMOUS_CODING FAM205A MODERATE|MISSENSE|gAa/gTa|E723V|1335|FAM205A|protein_coding|CODING|ENST00000378788|exon_9_34723052_34726985 0/1:99:106,0,216 . 0/1:60:57,0,237 . 9 34725438 rs200810176 A G NON_SYNONYMOUS_CODING FAM205A MODERATE|MISSENSE|tTg/tCg|L600S|1335|FAM205A|protein_coding|CODING|ENST00000378788|exon_9_34723052_34726985 1/1:86:83,45,0 . 1/1:47:58,27,0 . 9 34726204 rs521574 G A NON_SYNONYMOUS_CODING FAM205A MODERATE|MISSENSE|Cct/Tct|P345S|1335|FAM205A|protein_coding|CODING|ENST00000378788|exon_9_34723052_34726985 1/1:51:139,27,0 . 1/1:39:87,21,0 . 9 35618092 rs140499116 T C NON_SYNONYMOUS_CODING CD72 MODERATE|MISSENSE|Atc/Gtc|I37V|119|CD72|protein_coding|CODING|ENST00000378431|exon_9_35618011_35618118 0/1:99:226,0,192 . . . 9 35618092 rs140499116 T C NON_SYNONYMOUS_CODING CD72 MODERATE|MISSENSE|Atc/Gtc|I37V|120|CD72|protein_coding|CODING|ENST00000378430|exon_9_35618011_35618118 0/1:99:226,0,192 . . . 9 35618092 rs140499116 T C NON_SYNONYMOUS_CODING CD72 MODERATE|MISSENSE|Atc/Gtc|I37V|359|CD72|protein_coding|CODING|ENST00000259633|exon_9_35618011_35618118 0/1:99:226,0,192 . . . 9 35618092 rs140499116 T C NON_SYNONYMOUS_CODING CD72 MODERATE|MISSENSE|Atc/Gtc|I37V|359|CD72|protein_coding|CODING|ENST00000396757|exon_9_35618011_35618118 0/1:99:226,0,192 . . . 9 35618092 rs140499116 T C NON_SYNONYMOUS_CODING CD72 MODERATE|MISSENSE|Atc/Gtc|I37V|359|CD72|protein_coding|CODING|ENST00000396759|exon_9_35618011_35618118 0/1:99:226,0,192 . . . 9 35806217 rs114147262 C T NON_SYNONYMOUS_CODING NPR2 MODERATE|MISSENSE|Cgg/Tgg|R46W|164|NPR2|protein_coding|CODING|ENST00000447210|exon_9_35806082_35806230 0/1:99:123,0,240 . . . 9 35806217 rs114147262 C T NON_SYNONYMOUS_CODING NPR2 MODERATE|MISSENSE|Cgg/Tgg|R787W|1047|NPR2|protein_coding|CODING|ENST00000342694|exon_9_35806062_35806230 0/1:99:123,0,240 . . . 9 35906471 rs76452347 C T NON_SYNONYMOUS_CODING HRCT1 MODERATE|MISSENSE|Cgg/Tgg|R63W|115|HRCT1|protein_coding|CODING|ENST00000354323|exon_9_35906189_35907138 0/1:99:113,0,147 . . 0/1:44:141,0,41 9 35906583 rs112821450 T A NON_SYNONYMOUS_CODING HRCT1 MODERATE|MISSENSE|cTc/cAc|L100H|115|HRCT1|protein_coding|CODING|ENST00000354323|exon_9_35906189_35907138 . . . 1/1:10:57,6,0 9 35906598 . A C NON_SYNONYMOUS_CODING HRCT1 MODERATE|MISSENSE|cAc/cCc|H105P|115|HRCT1|protein_coding|CODING|ENST00000354323|exon_9_35906189_35907138 . 0/1:73:92,0,70 . . 9 35906601 rs112212538 C A NON_SYNONYMOUS_CODING HRCT1 MODERATE|MISSENSE|cCc/cAc|P106H|115|HRCT1|protein_coding|CODING|ENST00000354323|exon_9_35906189_35907138 0/1:48:76,0,45 . 1/1:27:125,15,0 0/1:39:122,0,36 9 35906607 . G C NON_SYNONYMOUS_CODING HRCT1 MODERATE|MISSENSE|cGc/cCc|R108P|115|HRCT1|protein_coding|CODING|ENST00000354323|exon_9_35906189_35907138 . . 1/1:51:215,27,0 . 9 35957662 rs185341034 A G NON_SYNONYMOUS_CODING OR2S2 MODERATE|MISSENSE|aTg/aCg|M145T|319|OR2S2|protein_coding|CODING|ENST00000341959|exon_9_35957105_35958151 0/1:99:150,0,255 . . . 9 37430899 . C A NON_SYNONYMOUS_CODING GRHPR MODERATE|MISSENSE|agC/agA|S187R|252|GRHPR|protein_coding|CODING|ENST00000438860|exon_9_37430508_37431144 . 0/1:99:185,0,215 . . 9 37430899 . C A NON_SYNONYMOUS_CODING GRHPR MODERATE|MISSENSE|agC/agA|S330R|395|GRHPR|protein_coding|CODING|ENST00000377824|exon_9_37430508_37432011 . 0/1:99:185,0,215 . . 9 37489378 rs11542231 C T NON_SYNONYMOUS_CODING POLR1E MODERATE|MISSENSE|aCa/aTa|T7I|349|POLR1E|protein_coding|CODING|ENST00000442009|exon_9_37489312_37489397 0/1:99:255,0,201 . 0/1:99:255,0,232 1/1:99:255,138,0 9 38396002 rs2228093 C T NON_SYNONYMOUS_CODING ALDH1B1 MODERATE|MISSENSE|gCc/gTc|A86V|517|ALDH1B1|protein_coding|CODING|ENST00000377698|exon_9_38395737_38398658 . . 0/1:99:174,0,202 . 9 38397154 rs61741825 T C NON_SYNONYMOUS_CODING ALDH1B1 MODERATE|MISSENSE|gTa/gCa|V171A|218|ALDH1B1|protein_coding|CODING|ENST00000540055|exon_9_38396566_38397950 . . . 0/1:99:241,0,149 9 38397154 rs61741825 T C NON_SYNONYMOUS_CODING ALDH1B1 MODERATE|MISSENSE|gTa/gCa|V470A|517|ALDH1B1|protein_coding|CODING|ENST00000377698|exon_9_38395737_38398658 . . . 0/1:99:241,0,149 9 38571130 rs12349568 C A NON_SYNONYMOUS_CODING ANKRD18A MODERATE|MISSENSE|Gca/Tca|A166S|205|ANKRD18A|protein_coding|CODING|ENST00000313339|exon_9_38571119_38571198 . 0/1:99:222,0,221 . . 9 39171471 rs143761191 C T NON_SYNONYMOUS_CODING CNTNAP3 MODERATE|MISSENSE|Ggc/Agc|G322S|1039|CNTNAP3|protein_coding|CODING|ENST00000358144|exon_9_39171366_39171627 . 0/1:99:226,0,248 . 0/1:99:171,0,253 9 39171471 rs143761191 C T NON_SYNONYMOUS_CODING CNTNAP3 MODERATE|MISSENSE|Ggc/Agc|G410S|1207|CNTNAP3|protein_coding|CODING|ENST00000377656|exon_9_39171366_39171627 . 0/1:99:226,0,248 . 0/1:99:171,0,253 9 39171471 rs143761191 C T NON_SYNONYMOUS_CODING CNTNAP3 MODERATE|MISSENSE|Ggc/Agc|G410S|1288|CNTNAP3|protein_coding|CODING|ENST00000297668|exon_9_39171366_39171627 . 0/1:99:226,0,248 . 0/1:99:171,0,253 9 39171471 rs143761191 C T NON_SYNONYMOUS_CODING CNTNAP3 MODERATE|MISSENSE|Ggc/Agc|G410S|652|CNTNAP3|protein_coding|CODING|ENST00000323947|exon_9_39171366_39171627 . 0/1:99:226,0,248 . 0/1:99:171,0,253 9 39171471 rs143761191 C T NON_SYNONYMOUS_CODING CNTNAP3 MODERATE|MISSENSE|Ggc/Agc|G410S|745|CNTNAP3|protein_coding|CODING|ENST00000377659|exon_9_39171366_39171627 . 0/1:99:226,0,248 . 0/1:99:171,0,253 9 39888251 . G T NON_SYNONYMOUS_CODING FAM75A2 MODERATE|MISSENSE|aGc/aTc|S413I|1347|FAM75A2|protein_coding|CODING|ENST00000456183|exon_9_39887322_39891210 . 0/1:68:65,0,126 . . 9 40702846 rs200010477 C T NON_SYNONYMOUS_CODING FAM75A3 MODERATE|MISSENSE|aCc/aTc|T168I|1347|FAM75A3|protein_coding|CODING|ENST00000356699|exon_9_40702652_40706537 0/1:99:110,0,136 . . . 9 43709661 rs201831014 T G NON_SYNONYMOUS_CODING CNTNAP3B MODERATE|MISSENSE|Tcc/Gcc|S33A|1288|CNTNAP3B|protein_coding|CODING|ENST00000377564|exon_9_43709650_43709760 . . . 1/1:10:53,6,0 9 43709661 rs201831014 T G NON_SYNONYMOUS_CODING CNTNAP3B MODERATE|MISSENSE|Tcc/Gcc|S33A|380|CNTNAP3B|protein_coding|CODING|ENST00000276974|exon_9_43709650_43709760 . . . 1/1:10:53,6,0 9 43709661 rs201831014 T G NON_SYNONYMOUS_CODING CNTNAP3B MODERATE|MISSENSE|Tcc/Gcc|S33A|599|CNTNAP3B|protein_coding|CODING|ENST00000403166|exon_9_43709650_43709760 . . . 1/1:10:53,6,0 9 43709661 rs201831014 T G NON_SYNONYMOUS_CODING CNTNAP3B MODERATE|MISSENSE|Tcc/Gcc|S33A|746|CNTNAP3B|protein_coding|CODING|ENST00000341990|exon_9_43709650_43709760 . . . 1/1:10:53,6,0 9 43737458 rs200069715 C T NON_SYNONYMOUS_CODING CNTNAP3B MODERATE|MISSENSE|Ctc/Ttc|L110F|1288|CNTNAP3B|protein_coding|CODING|ENST00000377564|exon_9_43737327_43737520 . 0/1:54:54,0,54 . . 9 43737458 rs200069715 C T NON_SYNONYMOUS_CODING CNTNAP3B MODERATE|MISSENSE|Ctc/Ttc|L110F|380|CNTNAP3B|protein_coding|CODING|ENST00000276974|exon_9_43737327_43737520 . 0/1:54:54,0,54 . . 9 43737458 rs200069715 C T NON_SYNONYMOUS_CODING CNTNAP3B MODERATE|MISSENSE|Ctc/Ttc|L110F|599|CNTNAP3B|protein_coding|CODING|ENST00000403166|exon_9_43737327_43737520 . 0/1:54:54,0,54 . . 9 43737458 rs200069715 C T NON_SYNONYMOUS_CODING CNTNAP3B MODERATE|MISSENSE|Ctc/Ttc|L110F|746|CNTNAP3B|protein_coding|CODING|ENST00000341990|exon_9_43737327_43737520 . 0/1:54:54,0,54 . . 9 45733765 rs200820065 T C NON_SYNONYMOUS_CODING FAM27E2 MODERATE|MISSENSE|Tgc/Cgc|C60R|125|FAM27E2|protein_coding|CODING|ENST00000377529|exon_9_45733559_45734896 . . . 0/1:99:120,0,250 9 46390648 . A C NON_SYNONYMOUS_CODING FAM27D1.1 MODERATE|MISSENSE|agA/agC|R124S|207|FAM27D1.1|protein_coding|CODING|ENST00000417276|exon_9_46389110_46391556 . 1/1:9:51,5,0 . . 9 46390648 . A C NON_SYNONYMOUS_CODING FAM27D1.1 MODERATE|MISSENSE|gAa/gCa|E115A|126|FAM27D1.1|protein_coding|CODING|ENST00000426006|exon_9_46390608_46390685 . 1/1:9:51,5,0 . . 9 65508162 . C T NON_SYNONYMOUS_CODING FAM75A7 MODERATE|MISSENSE|gGc/gAc|G74D|1347|FAM75A7|protein_coding|CODING|ENST00000355045|exon_9_65508136_65508193 0/1:47:122,0,44 . . . 9 66553447 rs74449597 G C NON_SYNONYMOUS_CODING RP11-262H14.4.1 MODERATE|MISSENSE|aGa/aCa|R5T|94|RP11-262H14.4.1|protein_coding|CODING|ENST00000305709|exon_9_66553273_66553558 . . 0/1:32:53,0,29 . 9 66553495 rs17855520 A G NON_SYNONYMOUS_CODING RP11-262H14.4.1 MODERATE|MISSENSE|cAa/cGa|Q21R|94|RP11-262H14.4.1|protein_coding|CODING|ENST00000305709|exon_9_66553273_66553558 . . 1/1:57:103,30,0 . 9 69423641 rs201906409 T G NON_SYNONYMOUS_CODING ANKRD20A4 MODERATE|MISSENSE|aTg/aGg|M646R|823|ANKRD20A4|protein_coding|CODING|ENST00000357336|exon_9_69423202_69425560 . 0/1:59:56,0,80 . . 9 69424019 . G A NON_SYNONYMOUS_CODING ANKRD20A4 MODERATE|MISSENSE|gGa/gAa|G772E|823|ANKRD20A4|protein_coding|CODING|ENST00000357336|exon_9_69423202_69425560 . 0/1:20:56,0,17 . . 9 69424030 . T C NON_SYNONYMOUS_CODING ANKRD20A4 MODERATE|MISSENSE|Ttc/Ctc|F776L|823|ANKRD20A4|protein_coding|CODING|ENST00000357336|exon_9_69423202_69425560 . 1/1:69:82,36,0 . . 9 71865988 rs41277907 C T NON_SYNONYMOUS_CODING TJP2 MODERATE|MISSENSE|tCc/tTc|S1010F|1190|TJP2|protein_coding|CODING|ENST00000377245|exon_9_71865951_71866280 0/1:99:255,0,250 . . . 9 71865988 rs41277907 C T NON_SYNONYMOUS_CODING TJP2 MODERATE|MISSENSE|tCc/tTc|S1041F|1221|TJP2|protein_coding|CODING|ENST00000539225|exon_9_71865951_71866280 0/1:99:255,0,250 . . . 9 71865988 rs41277907 C T NON_SYNONYMOUS_CODING TJP2 MODERATE|MISSENSE|tCc/tTc|S977F|1157|TJP2|protein_coding|CODING|ENST00000535702|exon_9_71865951_71866280 0/1:99:255,0,250 . . . 9 72131577 rs34788368 A C NON_SYNONYMOUS_CODING APBA1 MODERATE|MISSENSE|Tcc/Gcc|S184A|837|APBA1|protein_coding|CODING|ENST00000265381|exon_9_72130927_72132195 0/1:89:86,0,125 0/1:86:168,0,83 . . 9 74332970 rs25692 G A NON_SYNONYMOUS_CODING TMEM2 MODERATE|MISSENSE|Ccc/Tcc|P702S|1320|TMEM2|protein_coding|CODING|ENST00000377066|exon_9_74332864_74332995 . 0/1:99:255,0,255 . 1/1:99:255,102,0 9 74332970 rs25692 G A NON_SYNONYMOUS_CODING TMEM2 MODERATE|MISSENSE|Ccc/Tcc|P765S|1383|TMEM2|protein_coding|CODING|ENST00000377044|exon_9_74332864_74332995 . 0/1:99:255,0,255 . 1/1:99:255,102,0 9 77407642 . T G NON_SYNONYMOUS_CODING TRPM6 MODERATE|MISSENSE|gaA/gaC|E475D|1133|TRPM6|protein_coding|CODING|ENST00000312449|exon_9_77407540_77407686 . . . 0/1:99:255,0,255 9 77407642 . T G NON_SYNONYMOUS_CODING TRPM6 MODERATE|MISSENSE|gaA/gaC|E475D|1133|TRPM6|protein_coding|CODING|ENST00000448641|exon_9_77407540_77407686 . . . 0/1:99:255,0,255 9 77407642 . T G NON_SYNONYMOUS_CODING TRPM6 MODERATE|MISSENSE|gaA/gaC|E807D|2017|TRPM6|protein_coding|CODING|ENST00000361255|exon_9_77407540_77407686 . . . 0/1:99:255,0,255 9 77407642 . T G NON_SYNONYMOUS_CODING TRPM6 MODERATE|MISSENSE|gaA/gaC|E807D|2017|TRPM6|protein_coding|CODING|ENST00000449912|exon_9_77407540_77407686 . . . 0/1:99:255,0,255 9 77407642 . T G NON_SYNONYMOUS_CODING TRPM6 MODERATE|MISSENSE|gaA/gaC|E812D|1947|TRPM6|protein_coding|CODING|ENST00000376864|exon_9_77407540_77407686 . . . 0/1:99:255,0,255 9 77407642 . T G NON_SYNONYMOUS_CODING TRPM6 MODERATE|MISSENSE|gaA/gaC|E812D|2022|TRPM6|protein_coding|CODING|ENST00000360774|exon_9_77407540_77407686 . . . 0/1:99:255,0,255 9 77407642 . T G NON_SYNONYMOUS_CODING TRPM6 MODERATE|MISSENSE|gaA/gaC|E812D|2026|TRPM6|protein_coding|CODING|ENST00000451710|exon_9_77407540_77407686 . . . 0/1:99:255,0,255 9 78790193 . G T NON_SYNONYMOUS_CODING PCSK5 MODERATE|MISSENSE|cGa/cTa|R683L|690|PCSK5|protein_coding|CODING|ENST00000376767|exon_9_78789902_78790478 . . 0/1:99:105,0,255 . 9 78910241 rs2842480 A C NON_SYNONYMOUS_CODING PCSK5 MODERATE|MISSENSE|gAa/gCa|E1079A|1860|PCSK5|protein_coding|CODING|ENST00000545128|exon_9_78910191_78910327 . . 0/1:99:255,0,211 . 9 78910241 rs2842480 A C NON_SYNONYMOUS_CODING PCSK5 MODERATE|MISSENSE|gAa/gCa|E752A|1560|PCSK5|protein_coding|CODING|ENST00000424854|exon_9_78910191_78910327 . . 0/1:99:255,0,211 . 9 78910241 rs2842480 A C NON_SYNONYMOUS_CODING PCSK5 MODERATE|MISSENSE|gAa/gCa|E782A|1590|PCSK5|protein_coding|CODING|ENST00000376754|exon_9_78910191_78910327 . . 0/1:99:255,0,211 . 9 78910273 rs2643325 G A NON_SYNONYMOUS_CODING PCSK5 MODERATE|MISSENSE|Ggc/Agc|G1090S|1860|PCSK5|protein_coding|CODING|ENST00000545128|exon_9_78910191_78910327 . . 0/1:99:255,0,223 . 9 78910273 rs2643325 G A NON_SYNONYMOUS_CODING PCSK5 MODERATE|MISSENSE|Ggc/Agc|G763S|1560|PCSK5|protein_coding|CODING|ENST00000424854|exon_9_78910191_78910327 . . 0/1:99:255,0,223 . 9 78910273 rs2643325 G A NON_SYNONYMOUS_CODING PCSK5 MODERATE|MISSENSE|Ggc/Agc|G793S|1590|PCSK5|protein_coding|CODING|ENST00000376754|exon_9_78910191_78910327 . . 0/1:99:255,0,223 . 9 79318995 rs11145014 C T NON_SYNONYMOUS_CODING PRUNE2 MODERATE|MISSENSE|Gaa/Aaa|E2153K|2730|PRUNE2|protein_coding|CODING|ENST00000428286|exon_9_79318253_79319015 . . 0/1:99:255,0,253 0/1:99:213,0,255 9 79318995 rs11145014 C T NON_SYNONYMOUS_CODING PRUNE2 MODERATE|MISSENSE|Gaa/Aaa|E2511K|3053|PRUNE2|protein_coding|CODING|ENST00000422033|exon_9_79318253_79319015 . . 0/1:99:255,0,253 0/1:99:213,0,255 9 79318995 rs11145014 C T NON_SYNONYMOUS_CODING PRUNE2 MODERATE|MISSENSE|Gaa/Aaa|E2512K|3088|PRUNE2|protein_coding|CODING|ENST00000376718|exon_9_79318253_79319015 . . 0/1:99:255,0,253 0/1:99:213,0,255 9 79324408 rs41289953 T C NON_SYNONYMOUS_CODING PRUNE2 MODERATE|MISSENSE|Aaa/Gaa|K569E|2730|PRUNE2|protein_coding|CODING|ENST00000428286|exon_9_79319677_79326274 . 0/1:99:255,0,223 . . 9 79324408 rs41289953 T C NON_SYNONYMOUS_CODING PRUNE2 MODERATE|MISSENSE|Aaa/Gaa|K927E|3053|PRUNE2|protein_coding|CODING|ENST00000422033|exon_9_79319677_79326274 . 0/1:99:255,0,223 . . 9 79324408 rs41289953 T C NON_SYNONYMOUS_CODING PRUNE2 MODERATE|MISSENSE|Aaa/Gaa|K928E|3088|PRUNE2|protein_coding|CODING|ENST00000376718|exon_9_79319677_79326274 . 0/1:99:255,0,223 . . 9 79959138 rs200107412 C T NON_SYNONYMOUS_CODING VPS13A MODERATE|MISSENSE|Ccc/Tcc|P2327S|3135|VPS13A|protein_coding|CODING|ENST00000376636|exon_9_79959069_79959197 0/1:99:255,0,253 . . . 9 79959138 rs200107412 C T NON_SYNONYMOUS_CODING VPS13A MODERATE|MISSENSE|Ccc/Tcc|P2366S|3069|VPS13A|protein_coding|CODING|ENST00000376634|exon_9_79959069_79959197 0/1:99:255,0,253 . . . 9 79959138 rs200107412 C T NON_SYNONYMOUS_CODING VPS13A MODERATE|MISSENSE|Ccc/Tcc|P2366S|3095|VPS13A|protein_coding|CODING|ENST00000357409|exon_9_79959069_79959197 0/1:99:255,0,253 . . . 9 79959138 rs200107412 C T NON_SYNONYMOUS_CODING VPS13A MODERATE|MISSENSE|Ccc/Tcc|P2366S|3174|VPS13A|protein_coding|CODING|ENST00000360280|exon_9_79959069_79959197 0/1:99:255,0,253 . . . 9 84605971 rs111857392 C A NON_SYNONYMOUS_CODING FAM75D1 MODERATE|MISSENSE|Ccc/Acc|P196T|1576|FAM75D1|protein_coding|CODING|ENST00000344803|exon_9_84605688_84610171 . . . 0/1:99:218,0,96 9 86474115 rs55654273 T C NON_SYNONYMOUS_CODING KIF27 MODERATE|MISSENSE|Aat/Gat|N1036D|1401|KIF27|protein_coding|CODING|ENST00000297814|exon_9_86474071_86474286 0/1:99:255,0,255 . . . 9 86474115 rs55654273 T C NON_SYNONYMOUS_CODING KIF27 MODERATE|MISSENSE|Aat/Gat|N939D|1304|KIF27|protein_coding|CODING|ENST00000334204|exon_9_86474071_86474286 0/1:99:255,0,255 . . . 9 86474115 rs55654273 T C NON_SYNONYMOUS_CODING KIF27 MODERATE|MISSENSE|Aat/Gat|N970D|1335|KIF27|protein_coding|CODING|ENST00000413982|exon_9_86474071_86474286 0/1:99:255,0,255 . . . 9 86506398 . G C NON_SYNONYMOUS_CODING KIF27 MODERATE|MISSENSE|Caa/Gaa|Q541E|1304|KIF27|protein_coding|CODING|ENST00000334204|exon_9_86506210_86506416 0/1:99:245,0,255 . . . 9 86506398 . G C NON_SYNONYMOUS_CODING KIF27 MODERATE|MISSENSE|Caa/Gaa|Q541E|1335|KIF27|protein_coding|CODING|ENST00000413982|exon_9_86506210_86506416 0/1:99:245,0,255 . . . 9 86506398 . G C NON_SYNONYMOUS_CODING KIF27 MODERATE|MISSENSE|Caa/Gaa|Q541E|1401|KIF27|protein_coding|CODING|ENST00000297814|exon_9_86506210_86506416 0/1:99:245,0,255 . . . 9 86518796 rs12001918 T C NON_SYNONYMOUS_CODING KIF27 MODERATE|MISSENSE|Atc/Gtc|I213V|1304|KIF27|protein_coding|CODING|ENST00000334204|exon_9_86517975_86518933 0/1:99:255,0,221 . . . 9 86518796 rs12001918 T C NON_SYNONYMOUS_CODING KIF27 MODERATE|MISSENSE|Atc/Gtc|I213V|1335|KIF27|protein_coding|CODING|ENST00000413982|exon_9_86517975_86518933 0/1:99:255,0,221 . . . 9 86518796 rs12001918 T C NON_SYNONYMOUS_CODING KIF27 MODERATE|MISSENSE|Atc/Gtc|I213V|1401|KIF27|protein_coding|CODING|ENST00000297814|exon_9_86517975_86518933 0/1:99:255,0,221 . . . 9 86900369 rs56350726 T A NON_SYNONYMOUS_CODING SLC28A3 MODERATE|MISSENSE|tAt/tTt|Y444F|622|SLC28A3|protein_coding|CODING|ENST00000537648|exon_9_86900260_86900457 . 0/1:99:255,0,221 . . 9 86900369 rs56350726 T A NON_SYNONYMOUS_CODING SLC28A3 MODERATE|MISSENSE|tAt/tTt|Y513F|691|SLC28A3|protein_coding|CODING|ENST00000376238|exon_9_86900260_86900457 . 0/1:99:255,0,221 . . 9 88201746 rs147500747 C G NON_SYNONYMOUS_CODING AGTPBP1 MODERATE|MISSENSE|ttG/ttC|L1011F|1226|AGTPBP1|protein_coding|CODING|ENST00000357081|exon_9_88201746_88201875 0/1:99:255,0,255 . . . 9 88201746 rs147500747 C G NON_SYNONYMOUS_CODING AGTPBP1 MODERATE|MISSENSE|ttG/ttC|L1023F|1238|AGTPBP1|protein_coding|CODING|ENST00000376109|exon_9_88201746_88201875 0/1:99:255,0,255 . . . 9 88201746 rs147500747 C G NON_SYNONYMOUS_CODING AGTPBP1 MODERATE|MISSENSE|ttG/ttC|L971F|1186|AGTPBP1|protein_coding|CODING|ENST00000376083|exon_9_88201746_88201875 0/1:99:255,0,255 . . . 9 90500193 rs59256416 C G NON_SYNONYMOUS_CODING C9orf79 MODERATE|MISSENSE|gCt/gGt|A264G|1445|C9orf79|protein_coding|CODING|ENST00000325643|exon_9_90499828_90503814 0/1:78:222,0,75 . . . 9 90503628 rs77208054 C G NON_SYNONYMOUS_CODING C9orf79 MODERATE|MISSENSE|cCt/cGt|P1409R|1445|C9orf79|protein_coding|CODING|ENST00000325643|exon_9_90499828_90503814 0/1:99:255,0,250 . . . 9 90582445 rs56736734 C T NON_SYNONYMOUS_CODING CDK20 MODERATE|MISSENSE|Gtg/Atg|V304M|325|CDK20|protein_coding|CODING|ENST00000375883|exon_9_90581361_90582574 . 0/1:99:224,0,166 . . 9 90582445 rs56736734 C T NON_SYNONYMOUS_CODING CDK20 MODERATE|MISSENSE|Gtg/Atg|V304M|450|CDK20|protein_coding|CODING|ENST00000286878|exon_9_90582428_90582574 . 0/1:99:224,0,166 . . 9 90582445 rs56736734 C T NON_SYNONYMOUS_CODING CDK20 MODERATE|MISSENSE|Gtg/Atg|V317M|338|CDK20|protein_coding|CODING|ENST00000336654|exon_9_90581361_90582574 . 0/1:99:224,0,166 . . 9 90582445 rs56736734 C T NON_SYNONYMOUS_CODING CDK20 MODERATE|MISSENSE|Gtg/Atg|V325M|346|CDK20|protein_coding|CODING|ENST00000325303|exon_9_90581549_90582574 . 0/1:99:224,0,166 . . 9 90588955 . A G NON_SYNONYMOUS_CODING CDK20 MODERATE|MISSENSE|cTg/cCg|L37P|338|CDK20|protein_coding|CODING|ENST00000336654|exon_9_90588837_90588989 . 0/1:99:227,0,196 . . 9 95077691 rs149236794 A G NON_SYNONYMOUS_CODING NOL8 MODERATE|MISSENSE|Tct/Cct|S338P|1099|NOL8|protein_coding|CODING|ENST00000358855|exon_9_95076549_95078420 . . . 0/1:99:255,0,255 9 95077691 rs149236794 A G NON_SYNONYMOUS_CODING NOL8 MODERATE|MISSENSE|Tct/Cct|S338P|1099|NOL8|protein_coding|CODING|ENST00000542053|exon_9_95076549_95078420 . . . 0/1:99:255,0,255 9 95077691 rs149236794 A G NON_SYNONYMOUS_CODING NOL8 MODERATE|MISSENSE|Tct/Cct|S406P|1129|NOL8|protein_coding|CODING|ENST00000535387|exon_9_95076549_95078420 . . . 0/1:99:255,0,255 9 95077691 rs149236794 A G NON_SYNONYMOUS_CODING NOL8 MODERATE|MISSENSE|Tct/Cct|S406P|1167|NOL8|protein_coding|CODING|ENST00000442668|exon_9_95076549_95078420 . . . 0/1:99:255,0,255 9 95077691 rs149236794 A G NON_SYNONYMOUS_CODING NOL8 MODERATE|MISSENSE|Tct/Cct|S406P|1167|NOL8|protein_coding|CODING|ENST00000545558|exon_9_95076549_95078420 . . . 0/1:99:255,0,255 9 95077691 rs149236794 A G NON_SYNONYMOUS_CODING NOL8 MODERATE|MISSENSE|Tct/Cct|S406P|412|NOL8|protein_coding|CODING|ENST00000433029|exon_9_95077666_95078420 . . . 0/1:99:255,0,255 9 95077691 rs149236794 A G NON_SYNONYMOUS_CODING NOL8 MODERATE|MISSENSE|Tct/Cct|S406P|968|NOL8|protein_coding|CODING|ENST00000432670|exon_9_95076549_95078420 . . . 0/1:99:255,0,255 9 95077691 rs149236794 A G NON_SYNONYMOUS_CODING NOL8 MODERATE|MISSENSE|Tct/Cct|S408P|1131|NOL8|protein_coding|CODING|ENST00000375594|exon_9_95076549_95078431 . . . 0/1:99:255,0,255 9 96291995 rs41274404 C T NON_SYNONYMOUS_CODING FAM120A MODERATE|MISSENSE|Ccc/Tcc|P623S|628|FAM120A|protein_coding|CODING|ENST00000375389|exon_9_96291635_96293688 0/1:99:255,0,255 0/1:99:239,0,255 . . 9 97080827 rs202219124 C G NON_SYNONYMOUS_CODING FAM22F MODERATE|MISSENSE|Ggt/Cgt|G565R|590|FAM22F|protein_coding|CODING|ENST00000375347|exon_9_97080478_97081532 . . 1/1:10:61,6,0 1/1:21:64,12,0 9 97080827 rs202219124 C G NON_SYNONYMOUS_CODING FAM22F MODERATE|MISSENSE|Ggt/Cgt|G716R|741|FAM22F|protein_coding|CODING|ENST00000341207|exon_9_97080478_97081532 . . 1/1:10:61,6,0 1/1:21:64,12,0 9 97080827 rs202219124 C G NON_SYNONYMOUS_CODING FAM22F MODERATE|MISSENSE|Ggt/Cgt|G731R|756|FAM22F|protein_coding|CODING|ENST00000253262|exon_9_97080478_97081532 . . 1/1:10:61,6,0 1/1:21:64,12,0 9 99064296 rs2066480 C T NON_SYNONYMOUS_CODING HSD17B3 MODERATE|MISSENSE|Gtt/Att|V31I|260|HSD17B3|protein_coding|CODING|ENST00000375262|exon_9_99064233_99064386 0/1:99:255,0,255 . . . 9 99064296 rs2066480 C T NON_SYNONYMOUS_CODING HSD17B3 MODERATE|MISSENSE|Gtt/Att|V31I|310|HSD17B3|protein_coding|CODING|ENST00000375263|exon_9_99064233_99064434 0/1:99:255,0,255 . . . 9 99700212 rs202040012 C T NON_SYNONYMOUS_CODING FAM22G MODERATE|MISSENSE|Cca/Tca|P306S|590|FAM22G|protein_coding|CODING|ENST00000417159|exon_9_99700167_99700283 . 0/1:60:57,0,116 . . 9 99700212 rs202040012 C T NON_SYNONYMOUS_CODING FAM22G MODERATE|MISSENSE|Cca/Tca|P338S|622|FAM22G|protein_coding|CODING|ENST00000375230|exon_9_99700167_99700283 . 0/1:60:57,0,116 . . 9 99700212 rs202040012 C T NON_SYNONYMOUS_CODING FAM22G MODERATE|MISSENSE|Cca/Tca|P457S|492|FAM22G|protein_coding|CODING|ENST00000354649|exon_9_99700167_99700283 . 0/1:60:57,0,116 . . 9 99700212 rs202040012 C T NON_SYNONYMOUS_CODING FAM22G MODERATE|MISSENSE|Cca/Tca|P457S|741|FAM22G|protein_coding|CODING|ENST00000372322|exon_9_99700167_99700283 . 0/1:60:57,0,116 . . 9 100090360 . C G NON_SYNONYMOUS_CODING C9orf174 MODERATE|MISSENSE|Ctg/Gtg|L615V|903|C9orf174|protein_coding|CODING|ENST00000411667|exon_9_100090302_100090428 . . 0/1:99:240,0,241 . 9 100090360 . C G NON_SYNONYMOUS_CODING C9orf174 MODERATE|MISSENSE|Ctg/Gtg|L618V|1701|C9orf174|protein_coding|CODING|ENST00000375202|exon_9_100090302_100090428 . . 0/1:99:240,0,241 . 9 100090360 . C G NON_SYNONYMOUS_CODING C9orf174 MODERATE|MISSENSE|Ctg/Gtg|L618V|1701|C9orf174|protein_coding|CODING|ENST00000529487|exon_9_100090302_100090428 . . 0/1:99:240,0,241 . 9 100090360 . C G NON_SYNONYMOUS_CODING C9orf174 MODERATE|MISSENSE|Ctg/Gtg|L641V|898|C9orf174|protein_coding|CODING|ENST00000541524|exon_9_100090302_100090428 . . 0/1:99:240,0,241 . 9 100090360 . C G NON_SYNONYMOUS_CODING C9orf174 MODERATE|MISSENSE|Ctg/Gtg|L757V|1646|C9orf174|protein_coding|CODING|ENST00000357054|exon_9_100090302_100090428 . . 0/1:99:240,0,241 . 9 102590524 . GCAAC GC CODON_DELETION NR4A3 MODERATE||aac/-|N68-|443|NR4A3|protein_coding|CODING|ENST00000338488|exon_9_102590323_102591275 . . . 0/1:99:162,0,247 9 102590524 . GCAAC GC CODON_DELETION NR4A3 MODERATE||aac/-|N68-|626|NR4A3|protein_coding|CODING|ENST00000395097|exon_9_102590323_102591275 . . . 0/1:99:162,0,247 9 102590524 . GCAAC GC CODON_DELETION NR4A3 MODERATE||aac/-|N79-|637|NR4A3|protein_coding|CODING|ENST00000330847|exon_9_102590323_102591275 . . . 0/1:99:162,0,247 9 102677589 rs41305451 T C NON_SYNONYMOUS_CODING STX17 MODERATE|MISSENSE|aTa/aCa|I23T|302|STX17|protein_coding|CODING|ENST00000259400|exon_9_102677460_102677644 . . . 0/1:99:255,0,216 9 102677589 rs41305451 T C NON_SYNONYMOUS_CODING STX17 MODERATE|MISSENSE|aTa/aCa|I23T|302|STX17|protein_coding|CODING|ENST00000525640|exon_9_102677460_102677644 . . . 0/1:99:255,0,216 9 102677589 rs41305451 T C NON_SYNONYMOUS_CODING STX17 MODERATE|MISSENSE|aTa/aCa|I23T|302|STX17|protein_coding|CODING|ENST00000534052|exon_9_102677460_102677644 . . . 0/1:99:255,0,216 9 102677589 rs41305451 T C NON_SYNONYMOUS_CODING STX17 MODERATE|MISSENSE|aTa/aCa|I23T|40|STX17|protein_coding|CODING|ENST00000526607|exon_9_102677460_102677644 . . . 0/1:99:255,0,216 9 102677589 rs41305451 T C NON_SYNONYMOUS_CODING STX17 MODERATE|MISSENSE|aTa/aCa|I23T|40|STX17|protein_coding|CODING|ENST00000531035|exon_9_102677460_102677644 . . . 0/1:99:255,0,216 9 104187213 rs145078268 C T NON_SYNONYMOUS_CODING ALDOB MODERATE|MISSENSE|cGg/cAg|R304Q|364|ALDOB|protein_coding|CODING|ENST00000374855|exon_9_104187125_104187324 . 0/1:99:255,0,221 . . 9 104385711 rs10989563 C T NON_SYNONYMOUS_CODING GRIN3A MODERATE|MISSENSE|Gat/Aat|D835N|1115|GRIN3A|protein_coding|CODING|ENST00000361820|exon_9_104385600_104385715 . 0/1:99:224,0,255 0/1:99:223,0,255 0/1:99:197,0,255 9 105767091 rs139628328 C A NON_SYNONYMOUS_CODING CYLC2 MODERATE|MISSENSE|Ctc/Atc|L99I|348|CYLC2|protein_coding|CODING|ENST00000374798|exon_9_105766977_105767133 . 0/1:99:255,0,255 . . 9 105767091 rs139628328 C A NON_SYNONYMOUS_CODING CYLC2 MODERATE|MISSENSE|Ctc/Atc|L99I|348|CYLC2|protein_coding|CODING|ENST00000487798|exon_9_105766977_105767133 . 0/1:99:255,0,255 . . 9 107267352 rs7847413 T C NON_SYNONYMOUS_CODING OR13F1 MODERATE|MISSENSE|aTa/aCa|I270T|319|OR13F1|protein_coding|CODING|ENST00000334726|exon_9_107266455_107267547 . . . 0/1:99:255,0,255 9 107299001 rs41304943 C A NON_SYNONYMOUS_CODING OR13C3 MODERATE|MISSENSE|Ggt/Tgt|G32C|347|OR13C3|protein_coding|CODING|ENST00000374781|exon_9_107298030_107299137 . . 0/1:99:255,0,255 . 9 107332377 rs76017116 T A NON_SYNONYMOUS_CODING OR13C8 MODERATE|MISSENSE|aTa/aAa|I310K|320|OR13C8|protein_coding|CODING|ENST00000335040|exon_9_107331449_107332411 . . 0/1:99:255,0,255 . 9 107361111 rs6479259 T C NON_SYNONYMOUS_CODING OR13C5 MODERATE|MISSENSE|aAt/aGt|N195S|318|OR13C5|protein_coding|CODING|ENST00000374779|exon_9_107360650_107361788 0/1:99:255,0,255 . . . 9 107361271 rs146040370 C T NON_SYNONYMOUS_CODING OR13C5 MODERATE|MISSENSE|Gta/Ata|V142I|318|OR13C5|protein_coding|CODING|ENST00000374779|exon_9_107360650_107361788 . 0/1:99:228,0,156 . . 9 107367813 rs28538722 G C NON_SYNONYMOUS_CODING OR13C2 MODERATE|MISSENSE|ttC/ttG|F32L|318|OR13C2|protein_coding|CODING|ENST00000542196|exon_9_107366924_107367951 . 0/1:99:207,0,190 . . 9 107533159 rs3739740 A G NON_SYNONYMOUS_CODING NIPSNAP3B MODERATE|MISSENSE|Aaa/Gaa|K154E|247|NIPSNAP3B|protein_coding|CODING|ENST00000374762|exon_9_107533130_107533279 0/1:99:255,0,236 . . . 9 108147763 rs3199966 T G NON_SYNONYMOUS_CODING SLC44A1 MODERATE|MISSENSE|Tcc/Gcc|S436A|446|SLC44A1|protein_coding|CODING|ENST00000343170|exon_9_108147703_108147783 . 0/1:99:255,0,255 . . 9 108147763 rs3199966 T G NON_SYNONYMOUS_CODING SLC44A1 MODERATE|MISSENSE|Tcc/Gcc|S644A|652|SLC44A1|protein_coding|CODING|ENST00000374723|exon_9_108147703_108147783 . 0/1:99:255,0,255 . . 9 108147763 rs3199966 T G NON_SYNONYMOUS_CODING SLC44A1 MODERATE|MISSENSE|Tcc/Gcc|S644A|654|SLC44A1|protein_coding|CODING|ENST00000374724|exon_9_108147703_108147783 . 0/1:99:255,0,255 . . 9 108147763 rs3199966 T G NON_SYNONYMOUS_CODING SLC44A1 MODERATE|MISSENSE|Tcc/Gcc|S644A|657|SLC44A1|protein_coding|CODING|ENST00000374720|exon_9_108147703_108147783 . 0/1:99:255,0,255 . . 9 109690191 . G A NON_SYNONYMOUS_CODING ZNF462 MODERATE|MISSENSE|cGg/cAg|R1333Q|2506|ZNF462|protein_coding|CODING|ENST00000277225|exon_9_109686414_109692040 . . . 0/1:99:208,0,255 9 109690191 . G A NON_SYNONYMOUS_CODING ZNF462 MODERATE|MISSENSE|cGg/cAg|R1333Q|2566|ZNF462|protein_coding|CODING|ENST00000457913|exon_9_109686414_109692040 . . . 0/1:99:208,0,255 9 109690191 . G A NON_SYNONYMOUS_CODING ZNF462 MODERATE|MISSENSE|cGg/cAg|R178Q|1412|ZNF462|protein_coding|CODING|ENST00000441147|exon_9_109689659_109692040 . . . 0/1:99:208,0,255 9 109690191 . G A NON_SYNONYMOUS_CODING ZNF462 MODERATE|MISSENSE|cGg/cAg|R216Q|1449|ZNF462|protein_coding|CODING|ENST00000374686|exon_9_109689545_109692040 . . . 0/1:99:208,0,255 9 109690578 rs80154710 A C NON_SYNONYMOUS_CODING ZNF462 MODERATE|MISSENSE|aAc/aCc|N1462T|2506|ZNF462|protein_coding|CODING|ENST00000277225|exon_9_109686414_109692040 . . 0/1:57:54,0,169 . 9 109690578 rs80154710 A C NON_SYNONYMOUS_CODING ZNF462 MODERATE|MISSENSE|aAc/aCc|N1462T|2566|ZNF462|protein_coding|CODING|ENST00000457913|exon_9_109686414_109692040 . . 0/1:57:54,0,169 . 9 109690578 rs80154710 A C NON_SYNONYMOUS_CODING ZNF462 MODERATE|MISSENSE|aAc/aCc|N307T|1412|ZNF462|protein_coding|CODING|ENST00000441147|exon_9_109689659_109692040 . . 0/1:57:54,0,169 . 9 109690578 rs80154710 A C NON_SYNONYMOUS_CODING ZNF462 MODERATE|MISSENSE|aAc/aCc|N345T|1449|ZNF462|protein_coding|CODING|ENST00000374686|exon_9_109689545_109692040 . . 0/1:57:54,0,169 . 9 111617550 . G A NON_SYNONYMOUS_CODING ACTL7B MODERATE|MISSENSE|Cgc/Tgc|R221C|415|ACTL7B|protein_coding|CODING|ENST00000374667|exon_9_111616871_111619239 . 0/1:99:193,0,213 . . 9 111954598 rs186511890 G A NON_SYNONYMOUS_CODING EPB41L4B MODERATE|MISSENSE|cCg/cTg|P439L|611|EPB41L4B|protein_coding|CODING|ENST00000262536|exon_9_111954558_111954635 . . 0/1:99:226,0,251 . 9 111954598 rs186511890 G A NON_SYNONYMOUS_CODING EPB41L4B MODERATE|MISSENSE|cCg/cTg|P754L|900|EPB41L4B|protein_coding|CODING|ENST00000374566|exon_9_111954558_111954635 . . 0/1:99:226,0,251 . 9 112219459 rs141057944 A T NON_SYNONYMOUS_CODING PTPN3 MODERATE|MISSENSE|Tta/Ata|L95I|913|PTPN3|protein_coding|CODING|ENST00000374541|exon_9_112219453_112219495 . 0/1:99:255,0,255 . . 9 112219459 rs141057944 A T NON_SYNONYMOUS_CODING PTPN3 MODERATE|MISSENSE|Tta/Ata|L95I|913|PTPN3|protein_coding|CODING|ENST00000394831|exon_9_112219453_112219495 . 0/1:99:255,0,255 . . 9 112219459 rs141057944 A T NON_SYNONYMOUS_CODING PTPN3 MODERATE|MISSENSE|gTt/gAt|V12D|759|PTPN3|protein_coding|CODING|ENST00000262539|exon_9_112219453_112219495 . 0/1:99:255,0,255 . . 9 112811015 . TCCCCCGGAGTCTCCTGGACCCCCGGAGTCTCCTGGACCCCCGGAG TCCCCCGGAGTCTCCTGGACCCCCGGAG CODON_DELETION AKAP2 MODERATE||tctcctggacccccggag/-|SPGPPE22-|948|AKAP2|protein_coding|CODING|ENST00000374525|exon_9_112810976_112811135 . . 0/1:99:103,0,119 . 9 112811015 . TCCCCCGGAGTCTCCTGGACCCCCGGAGTCTCCTGGACCCCCGGAG TCCCCCGGAGTCTCCTGGACCCCCGGAG CODON_DELETION AKAP2 MODERATE||tctcctggacccccggag/-|SPGPPE22-|961|AKAP2|protein_coding|CODING|ENST00000434623|exon_9_112810878_112811135 . . 0/1:99:103,0,119 . 9 112811038 rs78923754 C T NON_SYNONYMOUS_CODING AKAP2 MODERATE|MISSENSE|cCg/cTg|P20L|948|AKAP2|protein_coding|CODING|ENST00000374525|exon_9_112810976_112811135 . 0/1:99:202,0,184 . . 9 112811038 rs78923754 C T NON_SYNONYMOUS_CODING AKAP2 MODERATE|MISSENSE|cCg/cTg|P20L|961|AKAP2|protein_coding|CODING|ENST00000434623|exon_9_112810878_112811135 . 0/1:99:202,0,184 . . 9 113192655 rs2986671 T G NON_SYNONYMOUS_CODING SVEP1 MODERATE|MISSENSE|gAa/gCa|E1787A|3548|SVEP1|protein_coding|CODING|ENST00000374469|exon_9_113192554_113192730 0/1:99:255,0,255 . 0/1:99:255,0,243 . 9 113192655 rs2986671 T G NON_SYNONYMOUS_CODING SVEP1 MODERATE|MISSENSE|gAa/gCa|E1810A|3571|SVEP1|protein_coding|CODING|ENST00000401783|exon_9_113192554_113192730 0/1:99:255,0,255 . 0/1:99:255,0,243 . 9 113261483 rs872665 C T NON_SYNONYMOUS_CODING SVEP1 MODERATE|MISSENSE|Gtc/Atc|V484I|3548|SVEP1|protein_coding|CODING|ENST00000374469|exon_9_113261321_113261518 0/1:99:255,0,248 . . . 9 113261483 rs872665 C T NON_SYNONYMOUS_CODING SVEP1 MODERATE|MISSENSE|Gtc/Atc|V484I|845|SVEP1|protein_coding|CODING|ENST00000374461|exon_9_113261321_113261518 0/1:99:255,0,248 . . . 9 113261483 rs872665 C T NON_SYNONYMOUS_CODING SVEP1 MODERATE|MISSENSE|Gtc/Atc|V507I|1549|SVEP1|protein_coding|CODING|ENST00000302728|exon_9_113261321_113261518 0/1:99:255,0,248 . . . 9 113261483 rs872665 C T NON_SYNONYMOUS_CODING SVEP1 MODERATE|MISSENSE|Gtc/Atc|V507I|3571|SVEP1|protein_coding|CODING|ENST00000401783|exon_9_113261321_113261518 0/1:99:255,0,248 . . . 9 114090328 rs140386545 G A NON_SYNONYMOUS_CODING OR2K2 MODERATE|MISSENSE|cCg/cTg|P129L|316|OR2K2|protein_coding|CODING|ENST00000302681|exon_9_114089763_114090713 . . . 0/1:99:255,0,255 9 114090328 rs140386545 G A NON_SYNONYMOUS_CODING OR2K2 MODERATE|MISSENSE|cCg/cTg|P158L|345|OR2K2|protein_coding|CODING|ENST00000374428|exon_9_114089763_114090800 . . . 0/1:99:255,0,255 9 114341122 rs75326768 G A NON_SYNONYMOUS_CODING PTGR1 MODERATE|MISSENSE|aCc/aTc|T202I|301|PTGR1|protein_coding|CODING|ENST00000538962|exon_9_114341076_114341231 . . 0/1:99:199,0,255 . 9 114341122 rs75326768 G A NON_SYNONYMOUS_CODING PTGR1 MODERATE|MISSENSE|aCc/aTc|T202I|329|PTGR1|protein_coding|CODING|ENST00000309195|exon_9_114341076_114341231 . . 0/1:99:199,0,255 . 9 114341122 rs75326768 G A NON_SYNONYMOUS_CODING PTGR1 MODERATE|MISSENSE|aCc/aTc|T202I|329|PTGR1|protein_coding|CODING|ENST00000407693|exon_9_114341076_114341231 . . 0/1:99:199,0,255 . 9 114341122 rs75326768 G A NON_SYNONYMOUS_CODING PTGR1 MODERATE|MISSENSE|aCc/aTc|T79I|177|PTGR1|protein_coding|CODING|ENST00000238248|exon_9_114341076_114341231 . . 0/1:99:199,0,255 . 9 114341122 rs75326768 G A NON_SYNONYMOUS_CODING PTGR1 MODERATE|MISSENSE|aCc/aTc|T79I|177|PTGR1|protein_coding|CODING|ENST00000374324|exon_9_114341076_114341231 . . 0/1:99:199,0,255 . 9 114371493 rs12351897 C T NON_SYNONYMOUS_CODING C9orf29 MODERATE|MISSENSE|Gat/Aat|D31N|98|C9orf29|protein_coding|CODING|ENST00000536054|exon_9_114371294_114371549 . 0/1:99:255,0,255 . . 9 114371493 rs12351897 C T NON_SYNONYMOUS_CODING C9orf29 MODERATE|MISSENSE|Gat/Aat|D39N|119|C9orf29|protein_coding|CODING|ENST00000374306|exon_9_114371294_114371549 . 0/1:99:255,0,255 . . 9 114521086 rs41308926 C T NON_SYNONYMOUS_CODING C9orf84 MODERATE|MISSENSE|aGa/aAa|R162K|488|C9orf84|protein_coding|CODING|ENST00000374283|exon_9_114520975_114521128 . . . 0/1:99:255,0,255 9 114521086 rs41308926 C T NON_SYNONYMOUS_CODING C9orf84 MODERATE|MISSENSE|aGa/aAa|R59K|1370|C9orf84|protein_coding|CODING|ENST00000394777|exon_9_114520975_114521128 . . . 0/1:99:255,0,255 9 114521086 rs41308926 C T NON_SYNONYMOUS_CODING C9orf84 MODERATE|MISSENSE|aGa/aAa|R59K|1405|C9orf84|protein_coding|CODING|ENST00000394779|exon_9_114520975_114521128 . . . 0/1:99:255,0,255 9 114521086 rs41308926 C T NON_SYNONYMOUS_CODING C9orf84 MODERATE|MISSENSE|aGa/aAa|R98K|1444|C9orf84|protein_coding|CODING|ENST00000318737|exon_9_114520975_114521128 . . . 0/1:99:255,0,255 9 114521086 rs41308926 C T NON_SYNONYMOUS_CODING C9orf84 MODERATE|MISSENSE|aGa/aAa|R98K|1444|C9orf84|protein_coding|CODING|ENST00000374287|exon_9_114520975_114521128 . . . 0/1:99:255,0,255 9 114864492 rs146484239 C A NON_SYNONYMOUS_CODING SUSD1 MODERATE|MISSENSE|agG/agT|R415S|722|SUSD1|protein_coding|CODING|ENST00000374263|exon_9_114864456_114864565 . . 0/1:99:234,0,255 . 9 114864492 rs146484239 C A NON_SYNONYMOUS_CODING SUSD1 MODERATE|MISSENSE|agG/agT|R415S|747|SUSD1|protein_coding|CODING|ENST00000374270|exon_9_114864456_114864565 . . 0/1:99:234,0,255 . 9 114864492 rs146484239 C A NON_SYNONYMOUS_CODING SUSD1 MODERATE|MISSENSE|agG/agT|R415S|757|SUSD1|protein_coding|CODING|ENST00000374264|exon_9_114864456_114864565 . . 0/1:99:234,0,255 . 9 115513324 . C T NON_SYNONYMOUS_CODING SNX30 MODERATE|MISSENSE|Cac/Tac|H15Y|437|SNX30|protein_coding|CODING|ENST00000374232|exon_9_115513118_115513437 0/1:60:62,0,58 . . . 9 115812140 rs151180938 G T NON_SYNONYMOUS_CODING ZFP37 MODERATE|MISSENSE|Ctg/Atg|L49M|630|ZFP37|protein_coding|CODING|ENST00000374227|exon_9_115812071_115812152 . 0/1:99:255,0,253 . . 9 115812140 rs151180938 G T NON_SYNONYMOUS_CODING ZFP37 MODERATE|MISSENSE|Ctg/Atg|L50M|631|ZFP37|protein_coding|CODING|ENST00000555206|exon_9_115812071_115812155 . 0/1:99:255,0,253 . . 9 115812140 rs151180938 G T NON_SYNONYMOUS_CODING ZFP37 MODERATE|MISSENSE|Ctg/Atg|L64M|645|ZFP37|protein_coding|CODING|ENST00000553380|exon_9_115812071_115812197 . 0/1:99:255,0,253 . . 9 116028559 rs10124895 C A NON_SYNONYMOUS_CODING SLC31A1 MODERATE|MISSENSE|cCc/cAc|P151H|188|SLC31A1|protein_coding|CODING|ENST00000374210|exon_9_116028516_116029217 . 0/1:99:183,0,149 . . 9 116132309 . C G NON_SYNONYMOUS_CODING BSPRY MODERATE|MISSENSE|Ctc/Gtc|L366V|402|BSPRY|protein_coding|CODING|ENST00000374183|exon_9_116131896_116133513 . 0/1:99:233,0,163 . . 9 116185655 rs148106673 G A NON_SYNONYMOUS_CODING C9orf43 MODERATE|MISSENSE|cGa/cAa|R178Q|461|C9orf43|protein_coding|CODING|ENST00000288462|exon_9_116185606_116185778 . . . 0/1:99:247,0,212 9 116185655 rs148106673 G A NON_SYNONYMOUS_CODING C9orf43 MODERATE|MISSENSE|cGa/cAa|R178Q|461|C9orf43|protein_coding|CODING|ENST00000374165|exon_9_116185606_116185778 . . . 0/1:99:247,0,212 9 116224374 rs113565749 G T NON_SYNONYMOUS_CODING RGS3 MODERATE|MISSENSE|gGc/gTc|G103V|1198|RGS3|protein_coding|CODING|ENST00000350696|exon_9_116224301_116224481 . . . 0/1:99:100,0,168 9 116224374 rs113565749 G T NON_SYNONYMOUS_CODING RGS3 MODERATE|MISSENSE|gGc/gTc|G103V|1198|RGS3|protein_coding|CODING|ENST00000374140|exon_9_116224301_116224481 . . . 0/1:99:100,0,168 9 117004489 rs41277743 C T NON_SYNONYMOUS_CODING COL27A1 MODERATE|MISSENSE|cCg/cTg|P953L|1860|COL27A1|protein_coding|CODING|ENST00000356083|exon_9_117004467_117004511 . 0/1:99:255,0,255 . . 9 117004489 rs41277743 C T NON_SYNONYMOUS_CODING COL27A1 MODERATE|MISSENSE|cCg/cTg|P953L|1867|COL27A1|protein_coding|CODING|ENST00000357257|exon_9_117004467_117004511 . 0/1:99:255,0,255 . . 9 117012903 rs143876527 G A NON_SYNONYMOUS_CODING COL27A1 MODERATE|MISSENSE|atG/atA|M996I|1860|COL27A1|protein_coding|CODING|ENST00000356083|exon_9_117012895_117012948 . . 0/1:99:255,0,255 . 9 117012903 rs143876527 G A NON_SYNONYMOUS_CODING COL27A1 MODERATE|MISSENSE|atG/atA|M996I|1867|COL27A1|protein_coding|CODING|ENST00000357257|exon_9_117012895_117012948 . . 0/1:99:255,0,255 . 9 117051003 rs149434700 G C NON_SYNONYMOUS_CODING COL27A1 MODERATE|MISSENSE|Gac/Cac|D1356H|1860|COL27A1|protein_coding|CODING|ENST00000356083|exon_9_117050982_117051035 0/1:99:134,0,211 . . . 9 117051003 rs149434700 G C NON_SYNONYMOUS_CODING COL27A1 MODERATE|MISSENSE|Gac/Cac|D1356H|1867|COL27A1|protein_coding|CODING|ENST00000357257|exon_9_117050982_117051035 0/1:99:134,0,211 . . . 9 117087412 rs1126801 G A NON_SYNONYMOUS_CODING ORM1 MODERATE|MISSENSE|Gtg/Atg|V174M|201|ORM1|protein_coding|CODING|ENST00000259396|exon_9_117087329_117087432 . . . 0/1:99:185,0,215 9 117092366 rs115684630 A C NON_SYNONYMOUS_CODING ORM2 MODERATE|MISSENSE|tAc/tCc|Y61S|194|ORM2|protein_coding|CODING|ENST00000412657|exon_9_117092152_117092856 0/1:99:115,0,198 . . . 9 117110112 rs1265891 T C NON_SYNONYMOUS_CODING AKNA MODERATE|MISSENSE|cAg/cGg|Q1016R|1358|AKNA|protein_coding|CODING|ENST00000374075|exon_9_117110004_117110180 0/1:99:133,0,193 . . . 9 117110112 rs1265891 T C NON_SYNONYMOUS_CODING AKNA MODERATE|MISSENSE|cAg/cGg|Q1097R|1439|AKNA|protein_coding|CODING|ENST00000307564|exon_9_117110004_117110180 0/1:99:133,0,193 . . . 9 117110112 rs1265891 T C NON_SYNONYMOUS_CODING AKNA MODERATE|MISSENSE|cAg/cGg|Q1097R|1439|AKNA|protein_coding|CODING|ENST00000374088|exon_9_117110004_117110180 0/1:99:133,0,193 . . . 9 117110112 rs1265891 T C NON_SYNONYMOUS_CODING AKNA MODERATE|MISSENSE|cAg/cGg|Q109R|405|AKNA|protein_coding|CODING|ENST00000320310|exon_9_117110004_117110180 0/1:99:133,0,193 . . . 9 117110112 rs1265891 T C NON_SYNONYMOUS_CODING AKNA MODERATE|MISSENSE|cAg/cGg|Q42R|384|AKNA|protein_coding|CODING|ENST00000374079|exon_9_117110004_117110180 0/1:99:133,0,193 . . . 9 117110112 rs1265891 T C NON_SYNONYMOUS_CODING AKNA MODERATE|MISSENSE|cAg/cGg|Q557R|899|AKNA|protein_coding|CODING|ENST00000223791|exon_9_117110004_117110180 0/1:99:133,0,193 . . . 9 117138597 rs140961956 C T NON_SYNONYMOUS_CODING AKNA MODERATE|MISSENSE|cGg/cAg|R497Q|572|AKNA|protein_coding|CODING|ENST00000394574|exon_9_117138387_117139812 0/1:49:68,0,46 . . . 9 117138846 rs75739279 G T NON_SYNONYMOUS_CODING AKNA MODERATE|MISSENSE|gCa/gAa|A255E|670|AKNA|protein_coding|CODING|ENST00000394582|exon_9_117138746_117139340 0/1:99:166,0,124 . . . 9 117138846 rs75739279 G T NON_SYNONYMOUS_CODING AKNA MODERATE|MISSENSE|gCa/gAa|A333E|1358|AKNA|protein_coding|CODING|ENST00000374075|exon_9_117138746_117139915 0/1:99:166,0,124 . . . 9 117138846 rs75739279 G T NON_SYNONYMOUS_CODING AKNA MODERATE|MISSENSE|gCa/gAa|A414E|1439|AKNA|protein_coding|CODING|ENST00000307564|exon_9_117138746_117139812 0/1:99:166,0,124 . . . 9 117138846 rs75739279 G T NON_SYNONYMOUS_CODING AKNA MODERATE|MISSENSE|gCa/gAa|A414E|1439|AKNA|protein_coding|CODING|ENST00000374088|exon_9_117138746_117139812 0/1:99:166,0,124 . . . 9 117138846 rs75739279 G T NON_SYNONYMOUS_CODING AKNA MODERATE|MISSENSE|gCa/gAa|A414E|572|AKNA|protein_coding|CODING|ENST00000394574|exon_9_117138387_117139812 0/1:99:166,0,124 . . . 9 117138846 rs75739279 G T NON_SYNONYMOUS_CODING AKNA MODERATE|MISSENSE|gCa/gAa|A414E|831|AKNA|protein_coding|CODING|ENST00000312033|exon_9_117138746_117139812 0/1:99:166,0,124 . . . 9 117150167 rs45527532 C T NON_SYNONYMOUS_CODING AKNA MODERATE|MISSENSE|cGg/cAg|R17Q|670|AKNA|protein_coding|CODING|ENST00000394582|exon_9_117150140_117150216 . . . 0/1:99:197,0,147 9 119491277 rs72765708 C T NON_SYNONYMOUS_CODING ASTN2 MODERATE|MISSENSE|Gca/Aca|A597T|1062|ASTN2|protein_coding|CODING|ENST00000373986|exon_9_119491271_119491375 . . 0/1:99:198,0,223 . 9 119491277 rs72765708 C T NON_SYNONYMOUS_CODING ASTN2 MODERATE|MISSENSE|Gca/Aca|A823T|1288|ASTN2|protein_coding|CODING|ENST00000361209|exon_9_119491271_119491375 . . 0/1:99:198,0,223 . 9 119491277 rs72765708 C T NON_SYNONYMOUS_CODING ASTN2 MODERATE|MISSENSE|Gca/Aca|A870T|1335|ASTN2|protein_coding|CODING|ENST00000373996|exon_9_119491271_119491375 . . 0/1:99:198,0,223 . 9 119491277 rs72765708 C T NON_SYNONYMOUS_CODING ASTN2 MODERATE|MISSENSE|Gca/Aca|A874T|1339|ASTN2|protein_coding|CODING|ENST00000313400|exon_9_119491271_119491375 . . 0/1:99:198,0,223 . 9 123476257 rs149898889 G A NON_SYNONYMOUS_CODING MEGF9 MODERATE|MISSENSE|cCt/cTt|P119L|639|MEGF9|protein_coding|CODING|ENST00000426959|exon_9_123476036_123476612 . 0/1:99:255,0,131 . . 9 123476257 rs149898889 G A NON_SYNONYMOUS_CODING MEGF9 MODERATE|MISSENSE|cCt/cTt|P127L|602|MEGF9|protein_coding|CODING|ENST00000373930|exon_9_123476036_123476748 . 0/1:99:255,0,131 . . 9 123688217 rs34119250 G A NON_SYNONYMOUS_CODING TRAF1 MODERATE|MISSENSE|cCg/cTg|P46L|416|TRAF1|protein_coding|CODING|ENST00000373887|exon_9_123688214_123688579 . . . 0/1:99:192,0,145 9 123688217 rs34119250 G A NON_SYNONYMOUS_CODING TRAF1 MODERATE|MISSENSE|cCg/cTg|P46L|416|TRAF1|protein_coding|CODING|ENST00000540010|exon_9_123688214_123688579 . . . 0/1:99:192,0,145 9 123688325 rs200940310 C G NON_SYNONYMOUS_CODING TRAF1 MODERATE|MISSENSE|cGc/cCc|R10P|416|TRAF1|protein_coding|CODING|ENST00000373887|exon_9_123688214_123688579 0/1:99:186,0,159 . . . 9 123688325 rs200940310 C G NON_SYNONYMOUS_CODING TRAF1 MODERATE|MISSENSE|cGc/cCc|R10P|416|TRAF1|protein_coding|CODING|ENST00000540010|exon_9_123688214_123688579 0/1:99:186,0,159 . . . 9 123725926 rs17612 T G NON_SYNONYMOUS_CODING C5 MODERATE|MISSENSE|gaA/gaC|E1437D|1676|C5|protein_coding|CODING|ENST00000223642|exon_9_123725914_123726016 . . . 0/1:99:224,0,255 9 123904538 rs148672807 T C NON_SYNONYMOUS_CODING CNTRL MODERATE|MISSENSE|tTa/tCa|L402S|1773|CNTRL|protein_coding|CODING|ENST00000373850|exon_9_123904369_123904548 . . . 0/1:99:255,0,220 9 123904538 rs148672807 T C NON_SYNONYMOUS_CODING CNTRL MODERATE|MISSENSE|tTa/tCa|L402S|994|CNTRL|protein_coding|CODING|ENST00000373847|exon_9_123904369_123904548 . . . 0/1:99:255,0,220 9 123904538 rs148672807 T C NON_SYNONYMOUS_CODING CNTRL MODERATE|MISSENSE|tTa/tCa|L436S|828|CNTRL|protein_coding|CODING|ENST00000373851|exon_9_123904369_123904548 . . . 0/1:99:255,0,220 9 123904538 rs148672807 T C NON_SYNONYMOUS_CODING CNTRL MODERATE|MISSENSE|tTa/tCa|L954S|2324|CNTRL|protein_coding|CODING|ENST00000454238|exon_9_123904369_123904548 . . . 0/1:99:255,0,220 9 123904538 rs148672807 T C NON_SYNONYMOUS_CODING CNTRL MODERATE|MISSENSE|tTa/tCa|L954S|2325|CNTRL|protein_coding|CODING|ENST00000238341|exon_9_123904369_123904548 . . . 0/1:99:255,0,220 9 123904538 rs148672807 T C NON_SYNONYMOUS_CODING CNTRL MODERATE|MISSENSE|tTa/tCa|L954S|2325|CNTRL|protein_coding|CODING|ENST00000373855|exon_9_123904369_123904548 . . . 0/1:99:255,0,220 9 124083642 rs116185403 C T NON_SYNONYMOUS_CODING GSN MODERATE|MISSENSE|Cgc/Tgc|R212C|485|GSN|protein_coding|CODING|ENST00000373807|exon_9_124083546_124083679 . 0/1:99:212,0,222 . . 9 124083642 rs116185403 C T NON_SYNONYMOUS_CODING GSN MODERATE|MISSENSE|Cgc/Tgc|R404C|705|GSN|protein_coding|CODING|ENST00000456109|exon_9_124083546_124083679 . 0/1:99:212,0,222 . . 9 124083642 rs116185403 C T NON_SYNONYMOUS_CODING GSN MODERATE|MISSENSE|Cgc/Tgc|R414C|715|GSN|protein_coding|CODING|ENST00000394352|exon_9_124083546_124083679 . 0/1:99:212,0,222 . . 9 124083642 rs116185403 C T NON_SYNONYMOUS_CODING GSN MODERATE|MISSENSE|Cgc/Tgc|R430C|731|GSN|protein_coding|CODING|ENST00000341272|exon_9_124083546_124083679 . 0/1:99:212,0,222 . . 9 124083642 rs116185403 C T NON_SYNONYMOUS_CODING GSN MODERATE|MISSENSE|Cgc/Tgc|R430C|731|GSN|protein_coding|CODING|ENST00000373808|exon_9_124083546_124083679 . 0/1:99:212,0,222 . . 9 124083642 rs116185403 C T NON_SYNONYMOUS_CODING GSN MODERATE|MISSENSE|Cgc/Tgc|R430C|731|GSN|protein_coding|CODING|ENST00000373823|exon_9_124083546_124083679 . 0/1:99:212,0,222 . . 9 124083642 rs116185403 C T NON_SYNONYMOUS_CODING GSN MODERATE|MISSENSE|Cgc/Tgc|R430C|731|GSN|protein_coding|CODING|ENST00000412819|exon_9_124083546_124083679 . 0/1:99:212,0,222 . . 9 124083642 rs116185403 C T NON_SYNONYMOUS_CODING GSN MODERATE|MISSENSE|Cgc/Tgc|R430C|731|GSN|protein_coding|CODING|ENST00000449733|exon_9_124083546_124083679 . 0/1:99:212,0,222 . . 9 124083642 rs116185403 C T NON_SYNONYMOUS_CODING GSN MODERATE|MISSENSE|Cgc/Tgc|R438C|739|GSN|protein_coding|CODING|ENST00000545652|exon_9_124083546_124083679 . 0/1:99:212,0,222 . . 9 124083642 rs116185403 C T NON_SYNONYMOUS_CODING GSN MODERATE|MISSENSE|Cgc/Tgc|R441C|742|GSN|protein_coding|CODING|ENST00000394353|exon_9_124083546_124083679 . 0/1:99:212,0,222 . . 9 124083642 rs116185403 C T NON_SYNONYMOUS_CODING GSN MODERATE|MISSENSE|Cgc/Tgc|R441C|742|GSN|protein_coding|CODING|ENST00000436847|exon_9_124083546_124083679 . 0/1:99:212,0,222 . . 9 124083642 rs116185403 C T NON_SYNONYMOUS_CODING GSN MODERATE|MISSENSE|Cgc/Tgc|R481C|782|GSN|protein_coding|CODING|ENST00000373818|exon_9_124083546_124083679 . 0/1:99:212,0,222 . . 9 124536644 . C T NON_SYNONYMOUS_CODING DAB2IP MODERATE|MISSENSE|Cac/Tac|H1025Y|1189|DAB2IP|protein_coding|CODING|ENST00000408936|exon_9_124536539_124536691 . . . 0/1:99:182,0,182 9 124536644 . C T NON_SYNONYMOUS_CODING DAB2IP MODERATE|MISSENSE|Cac/Tac|H901Y|1065|DAB2IP|protein_coding|CODING|ENST00000309989|exon_9_124536539_124536691 . . . 0/1:99:182,0,182 9 124536644 . C T NON_SYNONYMOUS_CODING DAB2IP MODERATE|MISSENSE|Cac/Tac|H934Y|1069|DAB2IP|protein_coding|CODING|ENST00000373782|exon_9_124536539_124536691 . . . 0/1:99:182,0,182 9 124536644 . C T NON_SYNONYMOUS_CODING DAB2IP MODERATE|MISSENSE|Cac/Tac|H997Y|1132|DAB2IP|protein_coding|CODING|ENST00000259371|exon_9_124536539_124536691 . . . 0/1:99:182,0,182 9 125143973 rs5789 C A NON_SYNONYMOUS_CODING PTGS1 MODERATE|MISSENSE|Ctg/Atg|L128M|490|PTGS1|protein_coding|CODING|ENST00000373698|exon_9_125143943_125144026 . . . 0/1:99:204,0,241 9 125143973 rs5789 C A NON_SYNONYMOUS_CODING PTGS1 MODERATE|MISSENSE|Ctg/Atg|L131M|155|PTGS1|protein_coding|CODING|ENST00000426608|exon_9_125143943_125144026 . . . 0/1:99:204,0,241 9 125143973 rs5789 C A NON_SYNONYMOUS_CODING PTGS1 MODERATE|MISSENSE|Ctg/Atg|L212M|537|PTGS1|protein_coding|CODING|ENST00000540753|exon_9_125143943_125144026 . . . 0/1:99:204,0,241 9 125143973 rs5789 C A NON_SYNONYMOUS_CODING PTGS1 MODERATE|MISSENSE|Ctg/Atg|L237M|562|PTGS1|protein_coding|CODING|ENST00000223423|exon_9_125143943_125144026 . . . 0/1:99:204,0,241 9 125143973 rs5789 C A NON_SYNONYMOUS_CODING PTGS1 MODERATE|MISSENSE|Ctg/Atg|L237M|599|PTGS1|protein_coding|CODING|ENST00000362012|exon_9_125143943_125144026 . . . 0/1:99:204,0,241 9 125239544 rs75911175 A G NON_SYNONYMOUS_CODING OR1J1 MODERATE|MISSENSE|aTt/aCt|I221T|322|OR1J1|protein_coding|CODING|ENST00000259357|exon_9_125239220_125240235 0/1:99:255,0,255 . . . 9 125239796 rs73567906 G C NON_SYNONYMOUS_CODING OR1J1 MODERATE|MISSENSE|aCt/aGt|T137S|322|OR1J1|protein_coding|CODING|ENST00000259357|exon_9_125239220_125240235 0/1:99:255,0,255 . . . 9 125315468 rs141317564 G A NON_SYNONYMOUS_CODING OR1N2 MODERATE|MISSENSE|cGc/cAc|R7H|330|OR1N2|protein_coding|CODING|ENST00000373688|exon_9_125315391_125316493 0/1:99:255,0,255 . . . 9 125377734 rs727913 A G NON_SYNONYMOUS_CODING OR1Q1 MODERATE|MISSENSE|Acc/Gcc|T240A|314|OR1Q1|protein_coding|CODING|ENST00000297913|exon_9_125376948_125378026 0/1:99:255,0,218 0/1:99:222,0,187 . . 9 125423881 rs144393198 T G NON_SYNONYMOUS_CODING OR1L1 MODERATE|MISSENSE|Tta/Gta|L13V|360|OR1L1|protein_coding|CODING|ENST00000373686|exon_9_125423845_125424927 . . 0/1:99:255,0,255 . 9 125895238 rs79286922 C T NON_SYNONYMOUS_CODING STRBP MODERATE|MISSENSE|Gtt/Att|V581I|658|STRBP|protein_coding|CODING|ENST00000360998|exon_9_125895124_125895247 . 0/1:99:157,0,255 . . 9 125895238 rs79286922 C T NON_SYNONYMOUS_CODING STRBP MODERATE|MISSENSE|Gtt/Att|V595I|672|STRBP|protein_coding|CODING|ENST00000348403|exon_9_125895124_125895247 . 0/1:99:157,0,255 . . 9 125895238 rs79286922 C T NON_SYNONYMOUS_CODING STRBP MODERATE|MISSENSE|Gtt/Att|V595I|672|STRBP|protein_coding|CODING|ENST00000447404|exon_9_125895124_125895247 . 0/1:99:157,0,255 . . 9 126136247 rs2488599 A G NON_SYNONYMOUS_CODING CRB2 MODERATE|MISSENSE|tAt/tGt|Y1146C|1176|CRB2|protein_coding|CODING|ENST00000359999|exon_9_126135413_126136378 . 0/1:99:164,0,180 0/1:99:252,0,215 1/1:75:255,39,0 9 127230911 . C G NON_SYNONYMOUS_CODING GPR144 MODERATE|MISSENSE|Ccc/Gcc|P25A|130|GPR144|protein_coding|CODING|ENST00000446588|exon_9_127230837_127230951 . . . 0/1:99:225,0,153 9 127230911 . C G NON_SYNONYMOUS_CODING GPR144 MODERATE|MISSENSE|caC/caG|H756Q|963|GPR144|protein_coding|CODING|ENST00000334810|exon_9_127230798_127230951 . . . 0/1:99:225,0,153 9 127618752 rs61738476 C T NON_SYNONYMOUS_CODING WDR38 MODERATE|MISSENSE|aCc/aTc|T164I|314|WDR38|protein_coding|CODING|ENST00000373574|exon_9_127618748_127618879 . . . 0/1:99:147,0,226 9 130095305 . T C NON_SYNONYMOUS_CODING GARNL3 MODERATE|MISSENSE|aTt/aCt|I203T|991|GARNL3|protein_coding|CODING|ENST00000435213|exon_9_130095302_130095400 . 0/1:99:229,0,255 . . 9 130095305 . T C NON_SYNONYMOUS_CODING GARNL3 MODERATE|MISSENSE|aTt/aCt|I225T|1013|GARNL3|protein_coding|CODING|ENST00000373387|exon_9_130095302_130095400 . 0/1:99:229,0,255 . . 9 130095305 . T C NON_SYNONYMOUS_CODING GARNL3 MODERATE|MISSENSE|aTt/aCt|I225T|820|GARNL3|protein_coding|CODING|ENST00000314904|exon_9_130095302_130095400 . 0/1:99:229,0,255 . . 9 130095305 . T C NON_SYNONYMOUS_CODING GARNL3 MODERATE|MISSENSE|aTt/aCt|I248T|266|GARNL3|protein_coding|CODING|ENST00000439286|exon_9_130095302_130095365 . 0/1:99:229,0,255 . . 9 130095305 . T C NON_SYNONYMOUS_CODING GARNL3 MODERATE|MISSENSE|aTt/aCt|I248T|267|GARNL3|protein_coding|CODING|ENST00000373399|exon_9_130095302_130095400 . 0/1:99:229,0,255 . . 9 130486671 . G A NON_SYNONYMOUS_CODING TTC16 MODERATE|MISSENSE|gGg/gAg|G206E|241|TTC16|protein_coding|CODING|ENST00000393748|exon_9_130486399_130487176 . . 0/1:99:205,0,147 . 9 130630749 rs8192462 C G NON_SYNONYMOUS_CODING AK1 MODERATE|MISSENSE|Gag/Cag|E123Q|194|AK1|protein_coding|CODING|ENST00000373156|exon_9_130630600_130630791 0/1:99:252,0,231 . . . 9 130630749 rs8192462 C G NON_SYNONYMOUS_CODING AK1 MODERATE|MISSENSE|Gag/Cag|E123Q|194|AK1|protein_coding|CODING|ENST00000373176|exon_9_130630600_130630791 0/1:99:252,0,231 . . . 9 130630749 rs8192462 C G NON_SYNONYMOUS_CODING AK1 MODERATE|MISSENSE|Gag/Cag|E139Q|210|AK1|protein_coding|CODING|ENST00000223836|exon_9_130630600_130630791 0/1:99:252,0,231 . . . 9 130891060 rs12377832 G A NON_SYNONYMOUS_CODING AL590708.2 MODERATE|MISSENSE|gGg/gAg|G92E|231|AL590708.2|protein_coding|CODING|ENST00000443493|exon_9_130890799_130891481 . 0/1:99:148,0,232 . . 9 130938661 rs11549266 C T NON_SYNONYMOUS_CODING CIZ1 MODERATE|MISSENSE|Gtg/Atg|V537M|797|CIZ1|protein_coding|CODING|ENST00000541172|exon_9_130938630_130938754 . . . 0/1:99:193,0,221 9 130938661 rs11549266 C T NON_SYNONYMOUS_CODING CIZ1 MODERATE|MISSENSE|Gtg/Atg|V558M|818|CIZ1|protein_coding|CODING|ENST00000372954|exon_9_130938630_130938754 . . . 0/1:99:193,0,221 9 130938661 rs11549266 C T NON_SYNONYMOUS_CODING CIZ1 MODERATE|MISSENSE|Gtg/Atg|V560M|820|CIZ1|protein_coding|CODING|ENST00000415526|exon_9_130938630_130938754 . . . 0/1:99:193,0,221 9 130938661 rs11549266 C T NON_SYNONYMOUS_CODING CIZ1 MODERATE|MISSENSE|Gtg/Atg|V577M|837|CIZ1|protein_coding|CODING|ENST00000537314|exon_9_130938630_130938754 . . . 0/1:99:193,0,221 9 130938661 rs11549266 C T NON_SYNONYMOUS_CODING CIZ1 MODERATE|MISSENSE|Gtg/Atg|V582M|842|CIZ1|protein_coding|CODING|ENST00000372948|exon_9_130938630_130938754 . . . 0/1:99:193,0,221 9 130938661 rs11549266 C T NON_SYNONYMOUS_CODING CIZ1 MODERATE|MISSENSE|Gtg/Atg|V609M|869|CIZ1|protein_coding|CODING|ENST00000325721|exon_9_130938630_130938754 . . . 0/1:99:193,0,221 9 130938661 rs11549266 C T NON_SYNONYMOUS_CODING CIZ1 MODERATE|MISSENSE|Gtg/Atg|V610M|870|CIZ1|protein_coding|CODING|ENST00000277465|exon_9_130938630_130938754 . . . 0/1:99:193,0,221 9 130938661 rs11549266 C T NON_SYNONYMOUS_CODING CIZ1 MODERATE|MISSENSE|Gtg/Atg|V610M|870|CIZ1|protein_coding|CODING|ENST00000357558|exon_9_130938630_130938754 . . . 0/1:99:193,0,221 9 130938661 rs11549266 C T NON_SYNONYMOUS_CODING CIZ1 MODERATE|MISSENSE|Gtg/Atg|V638M|898|CIZ1|protein_coding|CODING|ENST00000372938|exon_9_130938630_130938754 . . . 0/1:99:193,0,221 9 130938661 rs11549266 C T NON_SYNONYMOUS_CODING CIZ1 MODERATE|MISSENSE|Gtg/Atg|V638M|898|CIZ1|protein_coding|CODING|ENST00000393608|exon_9_130938630_130938754 . . . 0/1:99:193,0,221 9 130938661 rs11549266 C T NON_SYNONYMOUS_CODING CIZ1 MODERATE|MISSENSE|Gtg/Atg|V638M|924|CIZ1|protein_coding|CODING|ENST00000538431|exon_9_130938630_130938754 . . . 0/1:99:193,0,221 9 131019738 rs2240961 T C NON_SYNONYMOUS_CODING GOLGA2 MODERATE|MISSENSE|Aga/Gga|R186G|286|GOLGA2|protein_coding|CODING|ENST00000342583|exon_9_131019648_131019804 0/1:99:116,0,171 0/1:99:174,0,240 . . 9 131019738 rs2240961 T C NON_SYNONYMOUS_CODING GOLGA2 MODERATE|MISSENSE|Aga/Gga|R902G|1002|GOLGA2|protein_coding|CODING|ENST00000421699|exon_9_131019648_131019804 0/1:99:116,0,171 0/1:99:174,0,240 . . 9 131076155 rs41306706 C T NON_SYNONYMOUS_CODING TRUB2 MODERATE|MISSENSE|cGt/cAt|R131H|331|TRUB2|protein_coding|CODING|ENST00000372890|exon_9_131076087_131076168 . . 0/1:99:147,0,212 . 9 131076155 rs41306706 C T NON_SYNONYMOUS_CODING TRUB2 MODERATE|MISSENSE|cGt/cAt|R75H|275|TRUB2|protein_coding|CODING|ENST00000546104|exon_9_131076087_131076168 . . 0/1:99:147,0,212 . 9 131103046 rs113785080 C T NON_SYNONYMOUS_CODING SLC27A4 MODERATE|MISSENSE|cCc/cTc|P2L|237|SLC27A4|protein_coding|CODING|ENST00000372870|exon_9_131102925_131103117 0/1:99:185,0,164 0/1:99:108,0,142 . . 9 131396029 . CGCCACCTCTGCTGCCA CGCCA CODON_DELETION WDR34 MODERATE||ctggcagcagaggtg/ctg|LAAEV530L|536|WDR34|protein_coding|CODING|ENST00000372715|exon_9_131395940_131396261 . . . 0/1:92:89,0,202 9 131476362 rs141019196 G A NON_SYNONYMOUS_CODING PKN3 MODERATE|MISSENSE|cGg/cAg|R425Q|889|PKN3|protein_coding|CODING|ENST00000291906|exon_9_131476325_131476400 . . . 0/1:99:206,0,142 9 131477497 rs200554823 C T NON_SYNONYMOUS_CODING PKN3 MODERATE|MISSENSE|Cgg/Tgg|R567W|889|PKN3|protein_coding|CODING|ENST00000291906|exon_9_131477451_131477514 . . 0/1:99:245,0,244 . 9 131483798 rs10988103 A G NON_SYNONYMOUS_CODING ZDHHC12 MODERATE|MISSENSE|cTg/cCg|L165P|204|ZDHHC12|protein_coding|CODING|ENST00000452105|exon_9_131483676_131483809 . 0/1:99:123,0,224 . . 9 131762021 rs147959429 G T NON_SYNONYMOUS_CODING NUP188 MODERATE|MISSENSE|gaG/gaT|E1149D|1638|NUP188|protein_coding|CODING|ENST00000356693|exon_9_131761903_131762084 0/1:99:223,0,203 . . . 9 131762021 rs147959429 G T NON_SYNONYMOUS_CODING NUP188 MODERATE|MISSENSE|gaG/gaT|E1260D|1749|NUP188|protein_coding|CODING|ENST00000372577|exon_9_131761903_131762084 0/1:99:223,0,203 . . . 9 131804785 rs11544968 T C NON_SYNONYMOUS_CODING FAM73B MODERATE|MISSENSE|gTg/gCg|V100A|323|FAM73B|protein_coding|CODING|ENST00000277475|exon_9_131804583_131804793 0/1:99:228,0,255 . . . 9 131804785 rs11544968 T C NON_SYNONYMOUS_CODING FAM73B MODERATE|MISSENSE|gTg/gCg|V100A|349|FAM73B|protein_coding|CODING|ENST00000406926|exon_9_131804583_131804793 0/1:99:228,0,255 . . . 9 131804785 rs11544968 T C NON_SYNONYMOUS_CODING FAM73B MODERATE|MISSENSE|gTg/gCg|V100A|593|FAM73B|protein_coding|CODING|ENST00000358369|exon_9_131804583_131804793 0/1:99:228,0,255 . . . 9 131832142 . C A NON_SYNONYMOUS_CODING FAM73B MODERATE|MISSENSE|ttC/ttA|F491L|593|FAM73B|protein_coding|CODING|ENST00000358369|exon_9_131832128_131832244 . 0/1:99:255,0,168 . . 9 132580901 rs1801968 C G NON_SYNONYMOUS_CODING TOR1A MODERATE|MISSENSE|Gat/Cat|D185H|301|TOR1A|protein_coding|CODING|ENST00000427355|exon_9_132580799_132580926 . . 0/1:99:253,0,255 . 9 132580901 rs1801968 C G NON_SYNONYMOUS_CODING TOR1A MODERATE|MISSENSE|Gat/Cat|D216H|332|TOR1A|protein_coding|CODING|ENST00000351698|exon_9_132580799_132580926 . . 0/1:99:253,0,255 . 9 133057987 rs10988681 A G NON_SYNONYMOUS_CODING HMCN2 MODERATE|MISSENSE|aAc/aGc|N239S|745|HMCN2|protein_coding|CODING|ENST00000415566|exon_9_133057945_133058051 . 0/1:99:223,0,193 . . 9 133569200 rs148203698 C G NON_SYNONYMOUS_CODING EXOSC2 MODERATE|MISSENSE|Cca/Gca|P8A|199|EXOSC2|protein_coding|CODING|ENST00000372350|exon_9_133569174_133569300 . . . 0/1:99:217,0,177 9 133569200 rs148203698 C G NON_SYNONYMOUS_CODING EXOSC2 MODERATE|MISSENSE|Cca/Gca|P8A|263|EXOSC2|protein_coding|CODING|ENST00000372351|exon_9_133569173_133569300 . . . 0/1:99:217,0,177 9 133569200 rs148203698 C G NON_SYNONYMOUS_CODING EXOSC2 MODERATE|MISSENSE|Cca/Gca|P8A|267|EXOSC2|protein_coding|CODING|ENST00000546165|exon_9_133569158_133569300 . . . 0/1:99:217,0,177 9 133569200 rs148203698 C G NON_SYNONYMOUS_CODING EXOSC2 MODERATE|MISSENSE|Cca/Gca|P8A|270|EXOSC2|protein_coding|CODING|ENST00000495699|exon_9_133569179_133569300 . . . 0/1:99:217,0,177 9 133569200 rs148203698 C G NON_SYNONYMOUS_CODING EXOSC2 MODERATE|MISSENSE|Cca/Gca|P8A|285|EXOSC2|protein_coding|CODING|ENST00000372352|exon_9_133569167_133569300 . . . 0/1:99:217,0,177 9 133569200 rs148203698 C G NON_SYNONYMOUS_CODING EXOSC2 MODERATE|MISSENSE|Cca/Gca|P8A|293|EXOSC2|protein_coding|CODING|ENST00000372358|exon_9_133569108_133569300 . . . 0/1:99:217,0,177 9 133760592 rs2229067 C T NON_SYNONYMOUS_CODING ABL1 MODERATE|MISSENSE|tCg/tTg|S787L|945|ABL1|protein_coding|CODING|ENST00000444970|exon_9_133759356_133763062 . 0/1:99:234,0,255 . . 9 133760592 rs2229067 C T NON_SYNONYMOUS_CODING ABL1 MODERATE|MISSENSE|tCg/tTg|S972L|1130|ABL1|protein_coding|CODING|ENST00000318560|exon_9_133759356_133763062 . 0/1:99:234,0,255 . . 9 133760592 rs2229067 C T NON_SYNONYMOUS_CODING ABL1 MODERATE|MISSENSE|tCg/tTg|S991L|1149|ABL1|protein_coding|CODING|ENST00000372348|exon_9_133759356_133761070 . 0/1:99:234,0,255 . . 9 133901819 rs2275137 C A NON_SYNONYMOUS_CODING LAMC3 MODERATE|MISSENSE|cCc/cAc|P174H|1575|LAMC3|protein_coding|CODING|ENST00000361069|exon_9_133901672_133901976 . 0/1:99:194,0,177 . . 9 133901819 rs2275137 C A NON_SYNONYMOUS_CODING LAMC3 MODERATE|MISSENSE|cCc/cAc|P174H|1587|LAMC3|protein_coding|CODING|ENST00000355048|exon_9_133901672_133901976 . 0/1:99:194,0,177 . . 9 133901819 rs2275137 C A NON_SYNONYMOUS_CODING LAMC3 MODERATE|MISSENSE|cCc/cAc|P174H|529|LAMC3|protein_coding|CODING|ENST00000320021|exon_9_133901672_133901976 . 0/1:99:194,0,177 . . 9 134020086 rs61751470 A G NON_SYNONYMOUS_CODING NUP214 MODERATE|MISSENSE|Atg/Gtg|M165V|1684|NUP214|protein_coding|CODING|ENST00000540899|exon_9_134019678_134020141 . . 0/1:99:255,0,228 . 9 134020086 rs61751470 A G NON_SYNONYMOUS_CODING NUP214 MODERATE|MISSENSE|Atg/Gtg|M572V|2080|NUP214|protein_coding|CODING|ENST00000411637|exon_9_134019667_134020141 . . 0/1:99:255,0,228 . 9 134020086 rs61751470 A G NON_SYNONYMOUS_CODING NUP214 MODERATE|MISSENSE|Atg/Gtg|M572V|2090|NUP214|protein_coding|CODING|ENST00000359428|exon_9_134019667_134020141 . . 0/1:99:255,0,228 . 9 134020086 rs61751470 A G NON_SYNONYMOUS_CODING NUP214 MODERATE|MISSENSE|Atg/Gtg|M572V|2091|NUP214|protein_coding|CODING|ENST00000451030|exon_9_134019667_134020141 . . 0/1:99:255,0,228 . 9 134020086 rs61751470 A G NON_SYNONYMOUS_CODING NUP214 MODERATE|MISSENSE|Atg/Gtg|M572V|2093|NUP214|protein_coding|CODING|ENST00000541375|exon_9_134019667_134020141 . . 0/1:99:255,0,228 . 9 134334588 rs34553878 A G NON_SYNONYMOUS_CODING PRRC2B MODERATE|MISSENSE|Atg/Gtg|M417V|1535|PRRC2B|protein_coding|CODING|ENST00000405995|exon_9_134334551_134334743 0/1:99:255,0,255 . 0/1:99:212,0,255 . 9 134334588 rs34553878 A G NON_SYNONYMOUS_CODING PRRC2B MODERATE|MISSENSE|Atg/Gtg|M417V|1535|PRRC2B|protein_coding|CODING|ENST00000458550|exon_9_134334551_134334743 0/1:99:255,0,255 . 0/1:99:212,0,255 . 9 134334588 rs34553878 A G NON_SYNONYMOUS_CODING PRRC2B MODERATE|MISSENSE|Atg/Gtg|M417V|2229|PRRC2B|protein_coding|CODING|ENST00000357304|exon_9_134334551_134334743 0/1:99:255,0,255 . 0/1:99:212,0,255 . 9 134349864 rs201970738 C T NON_SYNONYMOUS_CODING PRRC2B MODERATE|MISSENSE|tCa/tTa|S52L|174|PRRC2B|protein_coding|CODING|ENST00000456307|exon_9_134349841_134350234 0/1:99:221,0,229 . . . 9 134349864 rs201970738 C T NON_SYNONYMOUS_CODING PRRC2B MODERATE|MISSENSE|tCa/tTa|S783L|2229|PRRC2B|protein_coding|CODING|ENST00000357304|exon_9_134349841_134351922 0/1:99:221,0,229 . . . 9 134349864 rs201970738 C T NON_SYNONYMOUS_CODING PRRC2B MODERATE|MISSENSE|tCa/tTa|S79L|796|PRRC2B|protein_coding|CODING|ENST00000418650|exon_9_134349841_134351922 0/1:99:221,0,229 . . . 9 134390870 rs11243406 C A NON_SYNONYMOUS_CODING POMT1 MODERATE|MISSENSE|gaC/gaA|D189E|465|POMT1|protein_coding|CODING|ENST00000541219|exon_9_134390813_134390909 . . 0/1:99:234,0,210 . 9 134390870 rs11243406 C A NON_SYNONYMOUS_CODING POMT1 MODERATE|MISSENSE|gaC/gaA|D259E|573|POMT1|protein_coding|CODING|ENST00000419118|exon_9_134390813_134390909 . . 0/1:99:234,0,210 . 9 134390870 rs11243406 C A NON_SYNONYMOUS_CODING POMT1 MODERATE|MISSENSE|gaC/gaA|D294E|608|POMT1|protein_coding|CODING|ENST00000404875|exon_9_134390813_134390909 . . 0/1:99:234,0,210 . 9 134390870 rs11243406 C A NON_SYNONYMOUS_CODING POMT1 MODERATE|MISSENSE|gaC/gaA|D357E|671|POMT1|protein_coding|CODING|ENST00000341012|exon_9_134390813_134390909 . . 0/1:99:234,0,210 . 9 134390870 rs11243406 C A NON_SYNONYMOUS_CODING POMT1 MODERATE|MISSENSE|gaC/gaA|D381E|695|POMT1|protein_coding|CODING|ENST00000354713|exon_9_134390813_134390909 . . 0/1:99:234,0,210 . 9 134390870 rs11243406 C A NON_SYNONYMOUS_CODING POMT1 MODERATE|MISSENSE|gaC/gaA|D411E|725|POMT1|protein_coding|CODING|ENST00000402686|exon_9_134390813_134390909 . . 0/1:99:234,0,210 . 9 134390870 rs11243406 C A NON_SYNONYMOUS_CODING POMT1 MODERATE|MISSENSE|gaC/gaA|D411E|725|POMT1|protein_coding|CODING|ENST00000423007|exon_9_134390813_134390909 . . 0/1:99:234,0,210 . 9 134390870 rs11243406 C A NON_SYNONYMOUS_CODING POMT1 MODERATE|MISSENSE|gaC/gaA|D433E|747|POMT1|protein_coding|CODING|ENST00000372228|exon_9_134390813_134390909 . . 0/1:99:234,0,210 . 9 135114365 rs2274853 G A NON_SYNONYMOUS_CODING NTNG2 MODERATE|MISSENSE|Ggt/Agt|G349S|536|NTNG2|protein_coding|CODING|ENST00000360670|exon_9_135114355_135114392 0/1:99:235,0,214 . . . 9 135117313 . C A NON_SYNONYMOUS_CODING NTNG2 MODERATE|MISSENSE|Ctg/Atg|L462M|522|NTNG2|protein_coding|CODING|ENST00000393228|exon_9_135117263_135119921 0/1:85:187,0,82 . . . 9 135117313 . C A NON_SYNONYMOUS_CODING NTNG2 MODERATE|MISSENSE|Ctg/Atg|L470M|530|NTNG2|protein_coding|CODING|ENST00000393229|exon_9_135117263_135119921 0/1:85:187,0,82 . . . 9 135117313 . C A NON_SYNONYMOUS_CODING NTNG2 MODERATE|MISSENSE|Ctg/Atg|L476M|536|NTNG2|protein_coding|CODING|ENST00000360670|exon_9_135117263_135118220 0/1:85:187,0,82 . . . 9 135150728 . A C NON_SYNONYMOUS_CODING SETX MODERATE|MISSENSE|Ttt/Gtt|F2339V|2644|SETX|protein_coding|CODING|ENST00000393220|exon_9_135150643_135150807 . . 0/1:99:241,0,255 . 9 135150728 . A C NON_SYNONYMOUS_CODING SETX MODERATE|MISSENSE|Ttt/Gtt|F2339V|2677|SETX|protein_coding|CODING|ENST00000224140|exon_9_135150643_135150807 . . 0/1:99:241,0,255 . 9 135150728 . A C NON_SYNONYMOUS_CODING SETX MODERATE|MISSENSE|Ttt/Gtt|F2339V|2706|SETX|protein_coding|CODING|ENST00000372169|exon_9_135150643_135150807 . . 0/1:99:241,0,255 . 9 135150728 . A C NON_SYNONYMOUS_CODING SETX MODERATE|MISSENSE|Ttt/Gtt|F581V|948|SETX|protein_coding|CODING|ENST00000436441|exon_9_135150643_135150807 . . 0/1:99:241,0,255 . 9 135277007 rs3739916 C T NON_SYNONYMOUS_CODING TTF1 MODERATE|MISSENSE|cGa/cAa|R401Q|881|TTF1|protein_coding|CODING|ENST00000245588|exon_9_135276842_135278215 . 0/1:99:255,0,228 . . 9 135277007 rs3739916 C T NON_SYNONYMOUS_CODING TTF1 MODERATE|MISSENSE|cGa/cAa|R401Q|905|TTF1|protein_coding|CODING|ENST00000334270|exon_9_135276842_135278215 . 0/1:99:255,0,228 . . 9 135277341 rs8999 C A NON_SYNONYMOUS_CODING TTF1 MODERATE|MISSENSE|Gca/Tca|A290S|881|TTF1|protein_coding|CODING|ENST00000245588|exon_9_135276842_135278215 . . 0/1:99:255,0,189 . 9 135277341 rs8999 C A NON_SYNONYMOUS_CODING TTF1 MODERATE|MISSENSE|Gca/Tca|A290S|905|TTF1|protein_coding|CODING|ENST00000334270|exon_9_135276842_135278215 . . 0/1:99:255,0,189 . 9 135374764 rs7047726 G A NON_SYNONYMOUS_CODING C9orf171 MODERATE|MISSENSE|Gga/Aga|G101R|198|C9orf171|protein_coding|CODING|ENST00000393215|exon_9_135374759_135374987 0/1:99:143,0,170 . . 0/1:99:232,0,185 9 135374764 rs7047726 G A NON_SYNONYMOUS_CODING C9orf171 MODERATE|MISSENSE|Gga/Aga|G101R|284|C9orf171|protein_coding|CODING|ENST00000393216|exon_9_135374759_135374987 0/1:99:143,0,170 . . 0/1:99:232,0,185 9 135374764 rs7047726 G A NON_SYNONYMOUS_CODING C9orf171 MODERATE|MISSENSE|Gga/Aga|G137R|320|C9orf171|protein_coding|CODING|ENST00000343036|exon_9_135374759_135374987 0/1:99:143,0,170 . . 0/1:99:232,0,185 9 135470338 . G A NON_SYNONYMOUS_CODING DDX31 MODERATE|MISSENSE|cCc/cTc|P695L|722|DDX31|protein_coding|CODING|ENST00000438527|exon_9_135470147_135470499 . 0/1:99:255,0,154 . . 9 135470338 . G A NON_SYNONYMOUS_CODING DDX31 MODERATE|MISSENSE|cCc/cTc|P751L|778|DDX31|protein_coding|CODING|ENST00000372153|exon_9_135469676_135470499 . 0/1:99:255,0,154 . . 9 135470338 . G A NON_SYNONYMOUS_CODING DDX31 MODERATE|MISSENSE|cCc/cTc|P824L|851|DDX31|protein_coding|CODING|ENST00000372159|exon_9_135468384_135470499 . 0/1:99:255,0,154 . . 9 136029138 rs35902535 G A NON_SYNONYMOUS_CODING GBGT1 MODERATE|MISSENSE|gCa/gTa|A284V|294|GBGT1|protein_coding|CODING|ENST00000372043|exon_9_136028340_136029629 . . 0/1:99:234,0,231 0/1:99:139,0,175 9 136029645 rs35898523 G T NON_SYNONYMOUS_CODING GBGT1 MODERATE|MISSENSE|Cac/Aac|H134N|160|GBGT1|protein_coding|CODING|ENST00000372038|exon_9_136029462_136029648 . . 0/1:99:218,0,215 0/1:99:138,0,194 9 136030573 rs35039208 G A NON_SYNONYMOUS_CODING GBGT1 MODERATE|MISSENSE|Cgt/Tgt|R130C|160|GBGT1|protein_coding|CODING|ENST00000372038|exon_9_136030565_136030699 . 0/1:99:234,0,220 . . 9 136030573 rs35039208 G A NON_SYNONYMOUS_CODING RALGDS MODERATE|MISSENSE|Cgt/Tgt|R130C|985|RALGDS|protein_coding|CODING|ENST00000542690|exon_9_136030565_136030699 . 0/1:99:234,0,220 . . 9 136268952 rs33919837 G T NON_SYNONYMOUS_CODING C9orf96 MODERATE|MISSENSE|Ggc/Tgc|G535C|680|C9orf96|protein_coding|CODING|ENST00000371957|exon_9_136268824_136268952 . . . 0/1:99:163,0,149 9 136268952 rs33919837 G T NON_SYNONYMOUS_CODING C9orf96 MODERATE|MISSENSE|Ggc/Tgc|G68C|213|C9orf96|protein_coding|CODING|ENST00000371955|exon_9_136268824_136268952 . . . 0/1:99:163,0,149 9 136269143 rs17150554 G A NON_SYNONYMOUS_CODING C9orf96 MODERATE|MISSENSE|cGg/cAg|R101Q|213|C9orf96|protein_coding|CODING|ENST00000371955|exon_9_136269044_136269172 . . . 0/1:99:216,0,207 9 136269143 rs17150554 G A NON_SYNONYMOUS_CODING C9orf96 MODERATE|MISSENSE|cGg/cAg|R568Q|680|C9orf96|protein_coding|CODING|ENST00000371957|exon_9_136269044_136269172 . . . 0/1:99:216,0,207 9 136277482 rs2285487 T C NON_SYNONYMOUS_CODING REXO4 MODERATE|MISSENSE|Act/Gct|T268A|374|REXO4|protein_coding|CODING|ENST00000453165|exon_9_136277419_136277612 . . . 0/1:99:255,0,187 9 136277482 rs2285487 T C NON_SYNONYMOUS_CODING REXO4 MODERATE|MISSENSE|Act/Gct|T283A|422|REXO4|protein_coding|CODING|ENST00000371942|exon_9_136277419_136277612 . . . 0/1:99:255,0,187 9 136279935 rs6597630 C T NON_SYNONYMOUS_CODING REXO4 MODERATE|MISSENSE|Ggg/Agg|G82R|232|REXO4|protein_coding|CODING|ENST00000454825|exon_9_136279785_136279953 . . . 0/1:99:255,0,172 9 136279935 rs6597630 C T NON_SYNONYMOUS_CODING REXO4 MODERATE|MISSENSE|Ggg/Agg|G82R|250|REXO4|protein_coding|CODING|ENST00000371935|exon_9_136279785_136279953 . . . 0/1:99:255,0,172 9 136279935 rs6597630 C T NON_SYNONYMOUS_CODING REXO4 MODERATE|MISSENSE|aGg/aAg|R126K|374|REXO4|protein_coding|CODING|ENST00000453165|exon_9_136279785_136280131 . . . 0/1:99:255,0,172 9 136279935 rs6597630 C T NON_SYNONYMOUS_CODING REXO4 MODERATE|MISSENSE|aGg/aAg|R141K|422|REXO4|protein_coding|CODING|ENST00000371942|exon_9_136279785_136280131 . . . 0/1:99:255,0,172 9 136279935 rs6597630 C T NON_SYNONYMOUS_CODING REXO4 MODERATE|MISSENSE|aGg/aAg|R48K|188|REXO4|protein_coding|CODING|ENST00000445916|exon_9_136279785_136280131 . . . 0/1:99:255,0,172 9 136287582 rs34024143 C T NON_SYNONYMOUS_CODING ADAMTS13 MODERATE|MISSENSE|Cgg/Tgg|R7W|1340|ADAMTS13|protein_coding|CODING|ENST00000356589|exon_9_136287444_136287668 . . . 0/1:99:173,0,173 9 136287582 rs34024143 C T NON_SYNONYMOUS_CODING ADAMTS13 MODERATE|MISSENSE|Cgg/Tgg|R7W|1371|ADAMTS13|protein_coding|CODING|ENST00000355699|exon_9_136287444_136287668 . . . 0/1:99:173,0,173 9 136287582 rs34024143 C T NON_SYNONYMOUS_CODING ADAMTS13 MODERATE|MISSENSE|Cgg/Tgg|R7W|1427|ADAMTS13|protein_coding|CODING|ENST00000371929|exon_9_136287120_136287668 . . . 0/1:99:173,0,173 9 136287582 rs34024143 C T NON_SYNONYMOUS_CODING ADAMTS13 MODERATE|MISSENSE|Cgg/Tgg|R7W|276|ADAMTS13|protein_coding|CODING|ENST00000371916|exon_9_136287120_136287668 . . . 0/1:99:173,0,173 9 136287582 rs34024143 C T NON_SYNONYMOUS_CODING ADAMTS13 MODERATE|MISSENSE|Cgg/Tgg|R7W|344|ADAMTS13|protein_coding|CODING|ENST00000371911|exon_9_136287444_136287668 . . . 0/1:99:173,0,173 9 136305530 rs28647808 C G NON_SYNONYMOUS_CODING ADAMTS13 MODERATE|MISSENSE|Ccc/Gcc|P290A|364|ADAMTS13|protein_coding|CODING|ENST00000536611|exon_9_136305465_136305646 . . . 0/1:99:166,0,197 9 136305530 rs28647808 C G NON_SYNONYMOUS_CODING ADAMTS13 MODERATE|MISSENSE|Ccc/Gcc|P587A|1340|ADAMTS13|protein_coding|CODING|ENST00000356589|exon_9_136305465_136305646 . . . 0/1:99:166,0,197 9 136305530 rs28647808 C G NON_SYNONYMOUS_CODING ADAMTS13 MODERATE|MISSENSE|Ccc/Gcc|P618A|1371|ADAMTS13|protein_coding|CODING|ENST00000355699|exon_9_136305465_136305646 . . . 0/1:99:166,0,197 9 136305530 rs28647808 C G NON_SYNONYMOUS_CODING ADAMTS13 MODERATE|MISSENSE|Ccc/Gcc|P618A|1427|ADAMTS13|protein_coding|CODING|ENST00000371929|exon_9_136305465_136305646 . . . 0/1:99:166,0,197 9 136310908 rs685523 C T NON_SYNONYMOUS_CODING ADAMTS13 MODERATE|MISSENSE|gCg/gTg|A869V|1340|ADAMTS13|protein_coding|CODING|ENST00000356589|exon_9_136310820_136310940 . . 0/1:99:183,0,209 0/1:99:176,0,161 9 136310908 rs685523 C T NON_SYNONYMOUS_CODING ADAMTS13 MODERATE|MISSENSE|gCg/gTg|A900V|1371|ADAMTS13|protein_coding|CODING|ENST00000355699|exon_9_136310820_136310940 . . 0/1:99:183,0,209 0/1:99:176,0,161 9 136310908 rs685523 C T NON_SYNONYMOUS_CODING ADAMTS13 MODERATE|MISSENSE|gCg/gTg|A900V|1427|ADAMTS13|protein_coding|CODING|ENST00000371929|exon_9_136310820_136310940 . . 0/1:99:183,0,209 0/1:99:176,0,161 9 136320666 . C A NON_SYNONYMOUS_CODING ADAMTS13 MODERATE|MISSENSE|tCc/tAc|S1170Y|1427|ADAMTS13|protein_coding|CODING|ENST00000371929|exon_9_136320407_136320725 . 0/1:99:191,0,255 . . 9 136333487 rs3094381 G A NON_SYNONYMOUS_CODING C9orf7 MODERATE|MISSENSE|Gca/Aca|A110T|191|C9orf7|protein_coding|CODING|ENST00000542192|exon_9_136333462_136333586 . . 0/1:99:160,0,240 . 9 136333487 rs3094381 G A NON_SYNONYMOUS_CODING C9orf7 MODERATE|MISSENSE|Gca/Aca|A152T|233|C9orf7|protein_coding|CODING|ENST00000540581|exon_9_136333462_136333586 . . 0/1:99:160,0,240 . 9 136337168 rs3094378 G A NON_SYNONYMOUS_CODING SLC2A6 MODERATE|MISSENSE|aCg/aTg|T438M|445|SLC2A6|protein_coding|CODING|ENST00000371897|exon_9_136336217_136337298 . . 0/1:99:193,0,246 . 9 136337168 rs3094378 G A NON_SYNONYMOUS_CODING SLC2A6 MODERATE|MISSENSE|aCg/aTg|T500M|507|SLC2A6|protein_coding|CODING|ENST00000371899|exon_9_136336217_136337298 . . 0/1:99:193,0,246 . 9 136384124 rs137868995 G T NON_SYNONYMOUS_CODING TMEM8C MODERATE|MISSENSE|Ccc/Acc|P91T|221|TMEM8C|protein_coding|CODING|ENST00000339996|exon_9_136383996_136384144 . . . 0/1:99:248,0,199 9 136509370 rs4531 G T NON_SYNONYMOUS_CODING DBH MODERATE|MISSENSE|Gcc/Tcc|A318S|617|DBH|protein_coding|CODING|ENST00000393056|exon_9_136509340_136509442 0/1:99:236,0,187 0/1:99:236,0,255 0/1:99:200,0,133 0/1:99:193,0,155 9 136590537 rs184560341 G A NON_SYNONYMOUS_CODING SARDH MODERATE|MISSENSE|aCa/aTa|T390I|396|SARDH|protein_coding|CODING|ENST00000298628|exon_9_136590244_136590790 . 0/1:99:255,0,241 . . 9 136913527 rs140391716 G A NON_SYNONYMOUS_CODING BRD3 MODERATE|MISSENSE|gCc/gTc|A255V|556|BRD3|protein_coding|CODING|ENST00000357885|exon_9_136913205_136913576 . . . 0/1:89:86,0,188 9 136913527 rs140391716 G A NON_SYNONYMOUS_CODING BRD3 MODERATE|MISSENSE|gCc/gTc|A255V|556|BRD3|protein_coding|CODING|ENST00000371834|exon_9_136913205_136913576 . . . 0/1:89:86,0,188 9 136913527 rs140391716 G A NON_SYNONYMOUS_CODING BRD3 MODERATE|MISSENSE|gCc/gTc|A255V|726|BRD3|protein_coding|CODING|ENST00000303407|exon_9_136913205_136913576 . . . 0/1:89:86,0,188 9 137293514 rs55836231 C T NON_SYNONYMOUS_CODING RXRA MODERATE|MISSENSE|cCg/cTg|P22L|462|RXRA|protein_coding|CODING|ENST00000481739|exon_9_137293478_137293728 . . . 0/1:42:192,0,39 9 137708884 rs61739195 C T NON_SYNONYMOUS_CODING COL5A1 MODERATE|MISSENSE|Cct/Tct|P1379S|1838|COL5A1|protein_coding|CODING|ENST00000371817|exon_9_137708872_137708925 . . . 0/1:99:151,0,236 9 137779091 rs7851696 G T NON_SYNONYMOUS_CODING FCN2 MODERATE|MISSENSE|Gct/Tct|A220S|275|FCN2|protein_coding|CODING|ENST00000350339|exon_9_137779014_137779924 . 0/1:99:255,0,206 0/1:99:255,0,252 . 9 137779091 rs7851696 G T NON_SYNONYMOUS_CODING FCN2 MODERATE|MISSENSE|Gct/Tct|A258S|313|FCN2|protein_coding|CODING|ENST00000291744|exon_9_137779014_137779366 . 0/1:99:255,0,206 0/1:99:255,0,252 . 9 137801203 . G A NON_SYNONYMOUS_CODING FCN1 MODERATE|MISSENSE|cCc/cTc|P299L|360|FCN1|protein_coding|CODING|ENST00000371807|exon_9_137797736_137801556 . . . 0/1:99:175,0,158 9 138376928 . T C NON_SYNONYMOUS_CODING PPP1R26 MODERATE|MISSENSE|gTa/gCa|V191A|1209|PPP1R26|protein_coding|CODING|ENST00000356818|exon_9_138376295_138380739 . 0/1:99:255,0,197 . . 9 138377498 rs34151777 G T NON_SYNONYMOUS_CODING PPP1R26 MODERATE|MISSENSE|cGc/cTc|R381L|1209|PPP1R26|protein_coding|CODING|ENST00000356818|exon_9_138376295_138380739 . . . 0/1:99:245,0,161 9 138415731 rs117638349 G C NON_SYNONYMOUS_CODING LCN1 MODERATE|MISSENSE|Ggc/Cgc|G100R|176|LCN1|protein_coding|CODING|ENST00000263598|exon_9_138415726_138415836 . 0/1:99:255,0,238 . . 9 138415731 rs117638349 G C NON_SYNONYMOUS_CODING LCN1 MODERATE|MISSENSE|Ggc/Cgc|G100R|176|LCN1|protein_coding|CODING|ENST00000371781|exon_9_138415726_138415836 . 0/1:99:255,0,238 . . 9 138457640 rs143616209 G A NON_SYNONYMOUS_CODING PAEP MODERATE|MISSENSE|cGt/cAt|R131H|132|PAEP|protein_coding|CODING|ENST00000418284|exon_9_138457631_138457676 . . . 0/1:99:192,0,148 9 138457640 rs143616209 G A NON_SYNONYMOUS_CODING PAEP MODERATE|MISSENSE|cGt/cAt|R144H|145|PAEP|protein_coding|CODING|ENST00000371767|exon_9_138457631_138457676 . . . 0/1:99:192,0,148 9 138457640 rs143616209 G A NON_SYNONYMOUS_CODING PAEP MODERATE|MISSENSE|cGt/cAt|R179H|180|PAEP|protein_coding|CODING|ENST00000277508|exon_9_138457631_138457676 . . . 0/1:99:192,0,148 9 138457640 rs143616209 G A NON_SYNONYMOUS_CODING PAEP MODERATE|MISSENSE|cGt/cAt|R179H|180|PAEP|protein_coding|CODING|ENST00000371766|exon_9_138457631_138457676 . . . 0/1:99:192,0,148 9 138457640 rs143616209 G A NON_SYNONYMOUS_CODING PAEP MODERATE|MISSENSE|cGt/cAt|R179H|180|PAEP|protein_coding|CODING|ENST00000479141|exon_9_138457631_138457647 . . . 0/1:99:192,0,148 9 138586263 rs144035874 G T NON_SYNONYMOUS_CODING SOHLH1 MODERATE|MISSENSE|Ctg/Atg|L306M|328|SOHLH1|protein_coding|CODING|ENST00000298466|exon_9_138585253_138586303 . 0/1:99:229,0,135 . . 9 138586263 rs144035874 G T NON_SYNONYMOUS_CODING SOHLH1 MODERATE|MISSENSE|Ctg/Atg|L306M|387|SOHLH1|protein_coding|CODING|ENST00000425225|exon_9_138586233_138586303 . 0/1:99:229,0,135 . . 9 138656889 . G A NON_SYNONYMOUS_CODING KCNT1 MODERATE|MISSENSE|Gtc/Atc|V305I|1211|KCNT1|protein_coding|CODING|ENST00000487664|exon_9_138656877_138657041 . . 0/1:99:255,0,191 . 9 138656889 . G A NON_SYNONYMOUS_CODING KCNT1 MODERATE|MISSENSE|Gtc/Atc|V311I|1215|KCNT1|protein_coding|CODING|ENST00000486577|exon_9_138656877_138657041 . . 0/1:99:255,0,191 . 9 138656889 . G A NON_SYNONYMOUS_CODING KCNT1 MODERATE|MISSENSE|Gtc/Atc|V317I|1223|KCNT1|protein_coding|CODING|ENST00000491806|exon_9_138656877_138657041 . . 0/1:99:255,0,191 . 9 138656889 . G A NON_SYNONYMOUS_CODING KCNT1 MODERATE|MISSENSE|Gtc/Atc|V331I|1230|KCNT1|protein_coding|CODING|ENST00000263604|exon_9_138656877_138657041 . . 0/1:99:255,0,191 . 9 138656889 . G A NON_SYNONYMOUS_CODING KCNT1 MODERATE|MISSENSE|Gtc/Atc|V331I|1235|KCNT1|protein_coding|CODING|ENST00000490355|exon_9_138656877_138657041 . . 0/1:99:255,0,191 . 9 138656889 . G A NON_SYNONYMOUS_CODING KCNT1 MODERATE|MISSENSE|Gtc/Atc|V331I|1237|KCNT1|protein_coding|CODING|ENST00000488444|exon_9_138656877_138657041 . . 0/1:99:255,0,191 . 9 138656889 . G A NON_SYNONYMOUS_CODING KCNT1 MODERATE|MISSENSE|Gtc/Atc|V350I|1235|KCNT1|protein_coding|CODING|ENST00000371757|exon_9_138656877_138657041 . . 0/1:99:255,0,191 . 9 138656889 . G A NON_SYNONYMOUS_CODING KCNT1 MODERATE|MISSENSE|Gtc/Atc|V350I|1256|KCNT1|protein_coding|CODING|ENST00000298480|exon_9_138656877_138657041 . . 0/1:99:255,0,191 . 9 138703181 . G C NON_SYNONYMOUS_CODING CAMSAP1 MODERATE|MISSENSE|Cca/Gca|P1317A|1324|CAMSAP1|protein_coding|CODING|ENST00000312405|exon_9_138701427_138703457 . . . 0/1:99:176,0,207 9 138703181 . G C NON_SYNONYMOUS_CODING CAMSAP1 MODERATE|MISSENSE|Cca/Gca|P1595A|1602|CAMSAP1|protein_coding|CODING|ENST00000389532|exon_9_138700333_138703457 . . . 0/1:99:176,0,207 9 138703181 . G C NON_SYNONYMOUS_CODING CAMSAP1 MODERATE|MISSENSE|Cca/Gca|P1606A|1613|CAMSAP1|protein_coding|CODING|ENST00000409386|exon_9_138702336_138703457 . . . 0/1:99:176,0,207 9 138714802 rs138200991 G A NON_SYNONYMOUS_CODING CAMSAP1 MODERATE|MISSENSE|Ctt/Ttt|L291F|1324|CAMSAP1|protein_coding|CODING|ENST00000312405|exon_9_138712685_138715106 . . . 0/1:99:255,0,226 9 138714802 rs138200991 G A NON_SYNONYMOUS_CODING CAMSAP1 MODERATE|MISSENSE|Ctt/Ttt|L569F|1602|CAMSAP1|protein_coding|CODING|ENST00000389532|exon_9_138712685_138715106 . . . 0/1:99:255,0,226 9 138714802 rs138200991 G A NON_SYNONYMOUS_CODING CAMSAP1 MODERATE|MISSENSE|Ctt/Ttt|L580F|1613|CAMSAP1|protein_coding|CODING|ENST00000409386|exon_9_138712685_138715106 . . . 0/1:99:255,0,226 9 139008606 rs117582746 C T NON_SYNONYMOUS_CODING C9orf69 MODERATE|MISSENSE|cGc/cAc|R72H|135|C9orf69|protein_coding|CODING|ENST00000561457|exon_9_139006428_139008870 0/1:99:181,0,171 . . . 9 139118673 rs12380852 T C NON_SYNONYMOUS_CODING QSOX2 MODERATE|MISSENSE|Aag/Gag|K126E|698|QSOX2|protein_coding|CODING|ENST00000358701|exon_9_139118620_139118720 1/1:99:255,81,0 0/1:99:229,0,239 0/1:99:248,0,233 . 9 139118673 rs12380852 T C NON_SYNONYMOUS_CODING QSOX2 MODERATE|MISSENSE|Aag/Gag|K4E|314|QSOX2|protein_coding|CODING|ENST00000389471|exon_9_139118620_139118720 1/1:99:255,81,0 0/1:99:229,0,239 0/1:99:248,0,233 . 9 139264888 rs114895119 T A NON_SYNONYMOUS_CODING CARD9 MODERATE|MISSENSE|gAg/gTg|E270V|366|CARD9|protein_coding|CODING|ENST00000315908|exon_9_139264746_139264889 . . . 0/1:99:194,0,97 9 139264888 rs114895119 T A NON_SYNONYMOUS_CODING CARD9 MODERATE|MISSENSE|gAg/gTg|E270V|492|CARD9|protein_coding|CODING|ENST00000371734|exon_9_139264746_139264889 . . . 0/1:99:194,0,97 9 139264888 rs114895119 T A NON_SYNONYMOUS_CODING CARD9 MODERATE|MISSENSE|gAg/gTg|E270V|536|CARD9|protein_coding|CODING|ENST00000371732|exon_9_139264746_139264889 . . . 0/1:99:194,0,97 9 139301778 . G A NON_SYNONYMOUS_CODING SDCCAG3 MODERATE|MISSENSE|tCc/tTc|S140F|362|SDCCAG3|protein_coding|CODING|ENST00000371725|exon_9_139301597_139302013 . 0/1:99:180,0,202 . . 9 139301778 . G A NON_SYNONYMOUS_CODING SDCCAG3 MODERATE|MISSENSE|tCc/tTc|S163F|222|SDCCAG3|protein_coding|CODING|ENST00000371723|exon_9_139301597_139302013 . 0/1:99:180,0,202 . . 9 139301778 . G A NON_SYNONYMOUS_CODING SDCCAG3 MODERATE|MISSENSE|tCc/tTc|S190F|412|SDCCAG3|protein_coding|CODING|ENST00000298537|exon_9_139301597_139302013 . 0/1:99:180,0,202 . . 9 139301778 . G A NON_SYNONYMOUS_CODING SDCCAG3 MODERATE|MISSENSE|tCc/tTc|S213F|435|SDCCAG3|protein_coding|CODING|ENST00000357365|exon_9_139301597_139302013 . 0/1:99:180,0,202 . . 9 139649612 rs2282258 C A NON_SYNONYMOUS_CODING LCN8 MODERATE|MISSENSE|gGg/gTg|G141V|152|LCN8|protein_coding|CODING|ENST00000371688|exon_9_139649587_139649612 0/1:58:55,0,196 . 0/1:99:255,0,186 0/1:99:123,0,185 9 139749730 rs11145905 C T NON_SYNONYMOUS_CODING MAMDC4 MODERATE|MISSENSE|Ccg/Tcg|P408S|1137|MAMDC4|protein_coding|CODING|ENST00000317446|exon_9_139749706_139749790 . . . 0/1:56:53,0,187 9 139749730 rs11145905 C T NON_SYNONYMOUS_CODING MAMDC4 MODERATE|MISSENSE|Ccg/Tcg|P408S|1216|MAMDC4|protein_coding|CODING|ENST00000445819|exon_9_139749706_139749790 . . . 0/1:56:53,0,187 9 139835558 rs45559439 C T NON_SYNONYMOUS_CODING FBXW5 MODERATE|MISSENSE|cGg/cAg|R508Q|566|FBXW5|protein_coding|CODING|ENST00000325285|exon_9_139834887_139835623 . 0/1:99:240,0,174 . 0/1:99:163,0,146 9 139886918 . T A NON_SYNONYMOUS_CODING C9orf142 MODERATE|MISSENSE|cTc/cAc|L8H|204|C9orf142|protein_coding|CODING|ENST00000371620|exon_9_139886870_139887014 . . . 0/1:56:53,0,95 9 139925841 rs201420085 A G NON_SYNONYMOUS_CODING FUT7 MODERATE|MISSENSE|gTg/gCg|V117A|342|FUT7|protein_coding|CODING|ENST00000314412|exon_9_139924626_139926177 0/1:80:143,0,77 . . . 9 139925862 . C T NON_SYNONYMOUS_CODING FUT7 MODERATE|MISSENSE|cGg/cAg|R110Q|342|FUT7|protein_coding|CODING|ENST00000314412|exon_9_139924626_139926177 . . . 0/1:99:121,0,161 9 140094605 rs9411313 C A NON_SYNONYMOUS_CODING TPRN MODERATE|MISSENSE|Gcg/Tcg|A126S|678|TPRN|protein_coding|CODING|ENST00000321773|exon_9_140093439_140094980 . . . 1/1:33:143,18,0 9 140094605 rs9411313 C A NON_SYNONYMOUS_CODING TPRN MODERATE|MISSENSE|Gcg/Tcg|A187S|711|TPRN|protein_coding|CODING|ENST00000409012|exon_9_140093439_140095250 . . . 1/1:33:143,18,0 9 140123345 . C T NON_SYNONYMOUS_CODING RNF224 MODERATE|MISSENSE|gCg/gTg|A93V|156|RNF224|protein_coding|CODING|ENST00000445101|exon_9_140123074_140124090 . . 0/1:99:142,0,248 . 9 140127546 rs35643193 G C NON_SYNONYMOUS_CODING SLC34A3 MODERATE|MISSENSE|gGg/gCg|G180A|599|SLC34A3|protein_coding|CODING|ENST00000361134|exon_9_140127456_140127567 . . . 0/1:99:169,0,111 9 140127546 rs35643193 G C NON_SYNONYMOUS_CODING SLC34A3 MODERATE|MISSENSE|gGg/gCg|G180A|599|SLC34A3|protein_coding|CODING|ENST00000538474|exon_9_140127456_140127567 . . . 0/1:99:169,0,111 9 140267490 rs143312119 G A NON_SYNONYMOUS_CODING EXD3 MODERATE|MISSENSE|gCg/gTg|A110V|246|EXD3|protein_coding|CODING|ENST00000479452|exon_9_140267357_140267524 . . . 0/1:99:208,0,150 9 140267490 rs143312119 G A NON_SYNONYMOUS_CODING EXD3 MODERATE|MISSENSE|gCg/gTg|A110V|876|EXD3|protein_coding|CODING|ENST00000340951|exon_9_140267357_140267524 . . . 0/1:99:208,0,150 9 140373575 rs61747535 C G NON_SYNONYMOUS_CODING PNPLA7 MODERATE|MISSENSE|tGg/tCg|W282S|725|PNPLA7|protein_coding|CODING|ENST00000371446|exon_9_140373508_140373690 . 1/1:99:255,51,0 . . 9 140373575 rs61747535 C G NON_SYNONYMOUS_CODING PNPLA7 MODERATE|MISSENSE|tGg/tCg|W480S|923|PNPLA7|protein_coding|CODING|ENST00000371457|exon_9_140373508_140373690 . 1/1:99:255,51,0 . . 9 140373575 rs61747535 C G NON_SYNONYMOUS_CODING PNPLA7 MODERATE|MISSENSE|tGg/tCg|W865S|1280|PNPLA7|protein_coding|CODING|ENST00000434090|exon_9_140373508_140373690 . 1/1:99:255,51,0 . . 9 140373575 rs61747535 C G NON_SYNONYMOUS_CODING PNPLA7 MODERATE|MISSENSE|tGg/tCg|W874S|1254|PNPLA7|protein_coding|CODING|ENST00000371451|exon_9_140373508_140373690 . 1/1:99:255,51,0 . . 9 140373575 rs61747535 C G NON_SYNONYMOUS_CODING PNPLA7 MODERATE|MISSENSE|tGg/tCg|W874S|1317|PNPLA7|protein_coding|CODING|ENST00000277531|exon_9_140373508_140373690 . 1/1:99:255,51,0 . . 9 140373575 rs61747535 C G NON_SYNONYMOUS_CODING PNPLA7 MODERATE|MISSENSE|tGg/tCg|W899S|1342|PNPLA7|protein_coding|CODING|ENST00000406427|exon_9_140373508_140373690 . 1/1:99:255,51,0 . . 9 140414410 rs11137410 C T NON_SYNONYMOUS_CODING PNPLA7 MODERATE|MISSENSE|cGg/cAg|R314Q|1280|PNPLA7|protein_coding|CODING|ENST00000434090|exon_9_140414369_140414495 . 0/1:99:211,0,255 . . 9 140414410 rs11137410 C T NON_SYNONYMOUS_CODING PNPLA7 MODERATE|MISSENSE|cGg/cAg|R323Q|1254|PNPLA7|protein_coding|CODING|ENST00000371451|exon_9_140414369_140414495 . 0/1:99:211,0,255 . . 9 140414410 rs11137410 C T NON_SYNONYMOUS_CODING PNPLA7 MODERATE|MISSENSE|cGg/cAg|R323Q|1317|PNPLA7|protein_coding|CODING|ENST00000277531|exon_9_140414369_140414495 . 0/1:99:211,0,255 . . 9 140414410 rs11137410 C T NON_SYNONYMOUS_CODING PNPLA7 MODERATE|MISSENSE|cGg/cAg|R348Q|1342|PNPLA7|protein_coding|CODING|ENST00000406427|exon_9_140414369_140414495 . 0/1:99:211,0,255 . . 9 140414410 rs11137410 C T NON_SYNONYMOUS_CODING PNPLA7 MODERATE|MISSENSE|cGg/cAg|R348Q|458|PNPLA7|protein_coding|CODING|ENST00000371450|exon_9_140414369_140414495 . 0/1:99:211,0,255 . . 9 140414410 rs11137410 C T NON_SYNONYMOUS_CODING PNPLA7 MODERATE|MISSENSE|cGg/cAg|R54Q|725|PNPLA7|protein_coding|CODING|ENST00000371446|exon_9_140414369_140414495 . 0/1:99:211,0,255 . . 9 141015296 rs200034261 C T NON_SYNONYMOUS_CODING CACNA1B MODERATE|MISSENSE|tCg/tTg|S1345L|1533|CACNA1B|protein_coding|CODING|ENST00000277549|exon_9_141015083_141015333 . 0/1:53:202,0,50 . . 9 141015296 rs200034261 C T NON_SYNONYMOUS_CODING CACNA1B MODERATE|MISSENSE|tCg/tTg|S2149L|2337|CACNA1B|protein_coding|CODING|ENST00000371363|exon_9_141015083_141015333 . 0/1:53:202,0,50 . . 9 141015296 rs200034261 C T NON_SYNONYMOUS_CODING CACNA1B MODERATE|MISSENSE|tCg/tTg|S2150L|2338|CACNA1B|protein_coding|CODING|ENST00000371357|exon_9_141015083_141015333 . 0/1:53:202,0,50 . . 9 141015296 rs200034261 C T NON_SYNONYMOUS_CODING CACNA1B MODERATE|MISSENSE|tCg/tTg|S2151L|2237|CACNA1B|protein_coding|CODING|ENST00000277551|exon_9_141015083_141015333 . 0/1:53:202,0,50 . . 9 141015296 rs200034261 C T NON_SYNONYMOUS_CODING CACNA1B MODERATE|MISSENSE|tCg/tTg|S2151L|2339|CACNA1B|protein_coding|CODING|ENST00000371372|exon_9_141015083_141015333 . 0/1:53:202,0,50 . . 9 141015296 rs200034261 C T NON_SYNONYMOUS_CODING CACNA1B MODERATE|MISSENSE|tCg/tTg|S2152L|2340|CACNA1B|protein_coding|CODING|ENST00000371355|exon_9_141015083_141015333 . 0/1:53:202,0,50 . . GL000192.1 197237 . A T NON_SYNONYMOUS_CODING AL360154.1 MODERATE|MISSENSE|Tca/Aca|S349T|409|AL360154.1|protein_coding|CODING|ENST00000545452|exon_GL000192.1_197234_197407 . 0/1:99:244,0,179 . 0/1:99:122,0,226 GL000195.1 49083 . A C NON_SYNONYMOUS_CODING AC011043.1 MODERATE|MISSENSE|aTa/aGa|I12R|120|AC011043.1|protein_coding|CODING|ENST00000400890|exon_GL000195.1_48955_49119 . 0/1:99:98,0,255 . . GL000205.1 117491 . G C NON_SYNONYMOUS_CODING AC011841.1 MODERATE|MISSENSE|gGc/gCc|G41A|149|AC011841.1|protein_coding|CODING|ENST00000391571|exon_GL000205.1_117169_119085 0/1:99:117,0,255 0/1:99:172,0,255 0/1:99:255,0,255 0/1:99:228,0,255 GL000205.1 117785 . C A NON_SYNONYMOUS_CODING AC011841.1 MODERATE|MISSENSE|gCa/gAa|A139E|149|AC011841.1|protein_coding|CODING|ENST00000391571|exon_GL000205.1_117169_119085 . 0/1:99:132,0,255 . . GL000209.1 27251 . C T NON_SYNONYMOUS_CODING KIR3DS1 MODERATE|MISSENSE|Cgg/Tgg|R152W|348|KIR3DS1|protein_coding|CODING|ENST00000344867|exon_GL000209.1_27168_27461 1/1:33:98,18,0 . . . GL000212.1 64301 . C T NON_SYNONYMOUS_CODING AL356585.1 MODERATE|MISSENSE|tCg/tTg|S17L|555|AL356585.1|protein_coding|CODING|ENST00000391545|exon_GL000212.1_64252_65919 . 0/1:99:233,0,234 . . GL000212.1 64462 . C A NON_SYNONYMOUS_CODING AL356585.1 MODERATE|MISSENSE|Cca/Aca|P71T|555|AL356585.1|protein_coding|CODING|ENST00000391545|exon_GL000212.1_64252_65919 . 0/1:99:230,0,117 . . GL000212.1 64517 . C T NON_SYNONYMOUS_CODING AL356585.1 MODERATE|MISSENSE|aCg/aTg|T89M|555|AL356585.1|protein_coding|CODING|ENST00000391545|exon_GL000212.1_64252_65919 . 0/1:99:228,0,170 . . GL000212.1 64553 . C T NON_SYNONYMOUS_CODING AL356585.1 MODERATE|MISSENSE|cCg/cTg|P101L|555|AL356585.1|protein_coding|CODING|ENST00000391545|exon_GL000212.1_64252_65919 . 0/1:99:143,0,155 . . GL000212.1 64635 . GTCCTC GTC CODON_CHANGE_PLUS_CODON_DELETION AL356585.1 MODERATE||tcctca/tca|SS129S|555|AL356585.1|protein_coding|CODING|ENST00000391545|exon_GL000212.1_64252_65919 . 0/1:99:255,0,226 . . GL000212.1 64844 . C A NON_SYNONYMOUS_CODING AL356585.1 MODERATE|MISSENSE|aCg/aAg|T198K|555|AL356585.1|protein_coding|CODING|ENST00000391545|exon_GL000212.1_64252_65919 0/1:99:163,0,149 . . . GL000212.1 65023 . A G NON_SYNONYMOUS_CODING AL356585.1 MODERATE|MISSENSE|Atg/Gtg|M258V|555|AL356585.1|protein_coding|CODING|ENST00000391545|exon_GL000212.1_64252_65919 . 0/1:99:160,0,138 . . GL000212.1 65558 . CGAGGA CGA CODON_CHANGE_PLUS_CODON_DELETION AL356585.1 MODERATE||aggacg/acg|RT437T|555|AL356585.1|protein_coding|CODING|ENST00000391545|exon_GL000212.1_64252_65919 . 0/1:99:255,0,255 . . GL000212.1 65695 . A G NON_SYNONYMOUS_CODING AL356585.1 MODERATE|MISSENSE|Agg/Ggg|R482G|555|AL356585.1|protein_coding|CODING|ENST00000391545|exon_GL000212.1_64252_65919 . 0/1:99:219,0,132 . . GL000212.1 65801 . C G NON_SYNONYMOUS_CODING AL356585.1 MODERATE|MISSENSE|aCg/aGg|T517R|555|AL356585.1|protein_coding|CODING|ENST00000391545|exon_GL000212.1_64252_65919 . 0/1:99:123,0,255 . . MT 5277 . T C NON_SYNONYMOUS_CODING MT-ND2 MODERATE|MISSENSE|Ttc/Ctc|F270L|346|MT-ND2|protein_coding|CODING|ENST00000361453|exon_MT_4470_5511 . . 1/1:99:255,255,0 . MT 6489 . C A NON_SYNONYMOUS_CODING MT-CO1 MODERATE|MISSENSE|Ctc/Atc|L196I|513|MT-CO1|protein_coding|CODING|ENST00000361624|exon_MT_5904_7445 . . 1/1:99:255,255,0 . MT 8618 rs28358885 T C NON_SYNONYMOUS_CODING MT-ATP6 MODERATE|MISSENSE|aTc/aCc|I31T|226|MT-ATP6|protein_coding|CODING|ENST00000361899|exon_MT_8527_9207 1/1:99:255,255,0 . . . MT 9055 rs200191755 G A NON_SYNONYMOUS_CODING MT-ATP6 MODERATE|MISSENSE|Gcc/Acc|A177T|226|MT-ATP6|protein_coding|CODING|ENST00000361899|exon_MT_8527_9207 . 1/1:99:255,255,0 . . MT 10908 . T C NON_SYNONYMOUS_CODING MT-ND4 MODERATE|MISSENSE|tTt/tCt|F50S|458|MT-ND4|protein_coding|CODING|ENST00000361381|exon_MT_10760_12137 1/1:99:255,255,0 . . . MT 12358 rs201027657 A G NON_SYNONYMOUS_CODING MT-ND5 MODERATE|MISSENSE|Acc/Gcc|T8A|603|MT-ND5|protein_coding|CODING|ENST00000361567|exon_MT_12337_14148 1/1:99:255,255,0 . . . MT 14502 rs201327354 T C NON_SYNONYMOUS_CODING MT-ND6 MODERATE|MISSENSE|Att/Gtt|I58V|174|MT-ND6|protein_coding|CODING|ENST00000361681|exon_MT_14149_14673 1/1:99:255,255,0 . . . MT 14798 rs28357681 T C NON_SYNONYMOUS_CODING MT-CYB MODERATE|MISSENSE|Ttc/Ctc|F18L|379|MT-CYB|protein_coding|CODING|ENST00000361789|exon_MT_14747_15887 . 1/1:99:255,255,0 . . MT 15110 rs28357685 G A NON_SYNONYMOUS_CODING MT-CYB MODERATE|MISSENSE|Gca/Aca|A122T|379|MT-CYB|protein_coding|CODING|ENST00000361789|exon_MT_14747_15887 1/1:99:255,255,0 . . . X 215944 . G T NON_SYNONYMOUS_CODING PLCXD1 MODERATE|MISSENSE|gGc/gTc|G305V|323|PLCXD1|protein_coding|CODING|ENST00000381657|exon_X_215764_220023 0/1:99:230,0,216 0/1:99:102,0,153 . . X 215944 . G T NON_SYNONYMOUS_CODING PLCXD1 MODERATE|MISSENSE|gGc/gTc|G305V|323|PLCXD1|protein_coding|CODING|ENST00000381663|exon_X_215764_216132 0/1:99:230,0,216 0/1:99:102,0,153 . . X 215944 . G T NON_SYNONYMOUS_CODING PLCXD1 MODERATE|MISSENSE|gGc/gTc|G305V|323|PLCXD1|protein_coding|CODING|ENST00000399012|exon_X_215764_220020 0/1:99:230,0,216 0/1:99:102,0,153 . . X 229493 . G A NON_SYNONYMOUS_CODING GTPBP6 MODERATE|MISSENSE|Cgc/Tgc|R57C|287|GTPBP6|protein_coding|CODING|ENST00000326153|exon_X_229433_229591 . . 0/1:99:255,0,211 . X 299360 . G A NON_SYNONYMOUS_CODING PPP2R3B MODERATE|MISSENSE|gCg/gTg|A519V|575|PPP2R3B|protein_coding|CODING|ENST00000390665|exon_X_299339_299445 . 1/1:63:227,33,0 0/1:94:145,0,91 0/1:88:85,0,175 X 1497644 . G C NON_SYNONYMOUS_CODING IL3RA MODERATE|MISSENSE|Gtg/Ctg|V245L|300|IL3RA|protein_coding|CODING|ENST00000381469|exon_X_1497552_1497657 . . 0/1:99:255,0,162 . X 1497644 . G C NON_SYNONYMOUS_CODING IL3RA MODERATE|MISSENSE|Gtg/Ctg|V323L|378|IL3RA|protein_coding|CODING|ENST00000331035|exon_X_1497552_1497657 . . 0/1:99:255,0,162 . X 1531687 . T C NON_SYNONYMOUS_CODING ASMTL MODERATE|MISSENSE|cAt/cGt|H452R|545|ASMTL|protein_coding|CODING|ENST00000416733|exon_X_1531625_1531747 . 0/1:99:212,0,255 0/1:99:180,0,245 . X 1531687 . T C NON_SYNONYMOUS_CODING ASMTL MODERATE|MISSENSE|cAt/cGt|H470R|563|ASMTL|protein_coding|CODING|ENST00000534940|exon_X_1531625_1531747 . 0/1:99:212,0,255 0/1:99:180,0,245 . X 1531687 . T C NON_SYNONYMOUS_CODING ASMTL MODERATE|MISSENSE|cAt/cGt|H512R|605|ASMTL|protein_coding|CODING|ENST00000381333|exon_X_1531625_1531747 . 0/1:99:212,0,255 0/1:99:180,0,245 . X 1531687 . T C NON_SYNONYMOUS_CODING ASMTL MODERATE|MISSENSE|cAt/cGt|H528R|621|ASMTL|protein_coding|CODING|ENST00000381317|exon_X_1531625_1531747 . 0/1:99:212,0,255 0/1:99:180,0,245 . X 1585079 . C T NON_SYNONYMOUS_CODING P2RY8 MODERATE|MISSENSE|Gtc/Atc|V125I|359|P2RY8|protein_coding|CODING|ENST00000381297|exon_X_1581465_1585475 . 0/1:99:255,0,214 0/1:99:210,0,219 . X 1734123 . C T NON_SYNONYMOUS_CODING ASMT MODERATE|MISSENSE|Ctc/Ttc|L11F|298|ASMT|protein_coding|CODING|ENST00000381233|exon_X_1734068_1734161 . . 0/1:99:139,0,249 . X 1734123 . C T NON_SYNONYMOUS_CODING ASMT MODERATE|MISSENSE|Ctc/Ttc|L11F|345|ASMT|protein_coding|CODING|ENST00000381229|exon_X_1734057_1734161 . . 0/1:99:139,0,249 . X 1734123 . C T NON_SYNONYMOUS_CODING ASMT MODERATE|MISSENSE|Ctc/Ttc|L11F|373|ASMT|protein_coding|CODING|ENST00000381241|exon_X_1733894_1734161 . . 0/1:99:139,0,249 . X 2184897 . G T NON_SYNONYMOUS_CODING DHRSX MODERATE|MISSENSE|aaC/aaA|N137K|231|DHRSX|protein_coding|CODING|ENST00000412516|exon_X_2184781_2184988 . 0/1:99:255,0,255 . . X 2184897 . G T NON_SYNONYMOUS_CODING DHRSX MODERATE|MISSENSE|aaC/aaA|N160K|330|DHRSX|protein_coding|CODING|ENST00000334651|exon_X_2184781_2184988 . 0/1:99:255,0,255 . . X 2184897 . G T NON_SYNONYMOUS_CODING DHRSX MODERATE|MISSENSE|aaC/aaA|N93K|120|DHRSX|protein_coding|CODING|ENST00000444280|exon_X_2184811_2184988 . 0/1:99:255,0,255 . . X 2761050 rs11797037 C T NON_SYNONYMOUS_CODING GYG2 MODERATE|MISSENSE|Cac/Tac|H7Y|430|GYG2|protein_coding|CODING|ENST00000542787|exon_X_2761039_2761131 . . 0/1:99:240,0,222 . X 2761050 rs11797037 C T NON_SYNONYMOUS_CODING GYG2 MODERATE|MISSENSE|Cac/Tac|H7Y|465|GYG2|protein_coding|CODING|ENST00000338623|exon_X_2761039_2761131 . . 0/1:99:240,0,222 . X 2761050 rs11797037 C T NON_SYNONYMOUS_CODING GYG2 MODERATE|MISSENSE|Cac/Tac|H7Y|501|GYG2|protein_coding|CODING|ENST00000381163|exon_X_2761039_2761131 . . 0/1:99:240,0,222 . X 2933233 rs142811205 G A NON_SYNONYMOUS_CODING ARSH MODERATE|MISSENSE|cGc/cAc|R188H|562|ARSH|protein_coding|CODING|ENST00000381130|exon_X_2933011_2933434 . 0/1:99:243,0,213 . . X 3228966 rs148675322 C G NON_SYNONYMOUS_CODING MXRA5 MODERATE|MISSENSE|gaG/gaC|E2426D|2828|MXRA5|protein_coding|CODING|ENST00000217939|exon_X_3226611_3229665 . . . 0/1:99:207,0,156 X 3228966 rs148675322 C G NON_SYNONYMOUS_CODING MXRA5 MODERATE|MISSENSE|gaG/gaC|E2426D|2828|MXRA5|protein_coding|CODING|ENST00000381114|exon_X_3226606_3229665 . . . 0/1:99:207,0,156 X 3229580 rs139558728 C T NON_SYNONYMOUS_CODING MXRA5 MODERATE|MISSENSE|Gta/Ata|V2222I|2828|MXRA5|protein_coding|CODING|ENST00000217939|exon_X_3226611_3229665 . 0/1:99:253,0,255 . . X 3229580 rs139558728 C T NON_SYNONYMOUS_CODING MXRA5 MODERATE|MISSENSE|Gta/Ata|V2222I|2828|MXRA5|protein_coding|CODING|ENST00000381114|exon_X_3226606_3229665 . 0/1:99:253,0,255 . . X 7811645 rs6639946 C G NON_SYNONYMOUS_CODING VCX MODERATE|MISSENSE|gCg/gGg|A70G|186|VCX|protein_coding|CODING|ENST00000341408|exon_X_7811539_7811793 . . . 1/1:57:104,30,0 X 7811645 rs6639946 C G NON_SYNONYMOUS_CODING VCX MODERATE|MISSENSE|gCg/gGg|A70G|206|VCX|protein_coding|CODING|ENST00000381059|exon_X_7811539_7812184 . . . 1/1:57:104,30,0 X 8138165 rs1058237 C G NON_SYNONYMOUS_CODING VCX2 MODERATE|MISSENSE|Gtg/Ctg|V110L|139|VCX2|protein_coding|CODING|ENST00000317103|exon_X_8137989_8138390 . 1/1:21:76,12,0 1/1:27:84,15,0 . X 8138171 rs78723459 T C NON_SYNONYMOUS_CODING VCX2 MODERATE|MISSENSE|Agc/Ggc|S108G|139|VCX2|protein_coding|CODING|ENST00000317103|exon_X_8137989_8138390 . . 1/1:9:77,5,0 . X 8138284 rs41309545 G C NON_SYNONYMOUS_CODING VCX2 MODERATE|MISSENSE|gCg/gGg|A70G|139|VCX2|protein_coding|CODING|ENST00000317103|exon_X_8137989_8138390 . . 1/1:33:86,18,0 1/1:21:54,12,0 X 10107478 rs199853996 G A NON_SYNONYMOUS_CODING WWC3 MODERATE|MISSENSE|cGt/cAt|R1037H|1092|WWC3|protein_coding|CODING|ENST00000380861|exon_X_10107453_10107580 . . . 0/1:99:156,0,255 X 10107478 rs199853996 G A NON_SYNONYMOUS_CODING WWC3 MODERATE|MISSENSE|cGt/cAt|R1037H|1092|WWC3|protein_coding|CODING|ENST00000454666|exon_X_10107453_10107580 . . . 0/1:99:156,0,255 X 10107478 rs199853996 G A NON_SYNONYMOUS_CODING WWC3 MODERATE|MISSENSE|cGt/cAt|R532H|587|WWC3|protein_coding|CODING|ENST00000543412|exon_X_10107453_10107580 . . . 0/1:99:156,0,255 X 14862700 rs147255018 G A NON_SYNONYMOUS_CODING FANCB MODERATE|MISSENSE|cCg/cTg|P697L|817|FANCB|protein_coding|CODING|ENST00000452869|exon_X_14862625_14862862 . . . 0/1:99:255,0,255 X 14862700 rs147255018 G A NON_SYNONYMOUS_CODING FANCB MODERATE|MISSENSE|cCg/cTg|P697L|859|FANCB|protein_coding|CODING|ENST00000324138|exon_X_14862625_14862862 . . . 0/1:99:255,0,255 X 14862700 rs147255018 G A NON_SYNONYMOUS_CODING FANCB MODERATE|MISSENSE|cCg/cTg|P697L|859|FANCB|protein_coding|CODING|ENST00000398334|exon_X_14862625_14862862 . . . 0/1:99:255,0,255 X 15582298 rs41303171 T C NON_SYNONYMOUS_CODING ACE2 MODERATE|MISSENSE|Aac/Gac|N720D|805|ACE2|protein_coding|CODING|ENST00000252519|exon_X_15582147_15582341 . . . 0/1:99:255,0,255 X 15582298 rs41303171 T C NON_SYNONYMOUS_CODING ACE2 MODERATE|MISSENSE|Aac/Gac|N720D|805|ACE2|protein_coding|CODING|ENST00000427411|exon_X_15582147_15582341 . . . 0/1:99:255,0,255 X 15841062 rs200298669 C A NON_SYNONYMOUS_CODING ZRSR2 MODERATE|MISSENSE|aaC/aaA|N382K|482|ZRSR2|protein_coding|CODING|ENST00000307771|exon_X_15840854_15841383 1/1:75:245,39,0 . . . X 16887655 rs67984110 C T NON_SYNONYMOUS_CODING RBBP7 MODERATE|MISSENSE|cGc/cAc|R37H|469|RBBP7|protein_coding|CODING|ENST00000380084|exon_X_16887617_16888009 . 0/1:99:129,0,190 . . X 19375782 rs2229137 A C NON_SYNONYMOUS_CODING PDHA1 MODERATE|MISSENSE|Atg/Ctg|M251L|359|PDHA1|protein_coding|CODING|ENST00000540249|exon_X_19375770_19375837 1/1:51:239,27,0 . . . X 19375782 rs2229137 A C NON_SYNONYMOUS_CODING PDHA1 MODERATE|MISSENSE|Atg/Ctg|M282L|390|PDHA1|protein_coding|CODING|ENST00000422285|exon_X_19375770_19375837 1/1:51:239,27,0 . . . X 19375782 rs2229137 A C NON_SYNONYMOUS_CODING PDHA1 MODERATE|MISSENSE|Atg/Ctg|M289L|397|PDHA1|protein_coding|CODING|ENST00000545074|exon_X_19375770_19375837 1/1:51:239,27,0 . . . X 19375782 rs2229137 A C NON_SYNONYMOUS_CODING PDHA1 MODERATE|MISSENSE|Atg/Ctg|M320L|428|PDHA1|protein_coding|CODING|ENST00000379806|exon_X_19375770_19375837 1/1:51:239,27,0 . . . X 21861430 rs149889191 A G NON_SYNONYMOUS_CODING MBTPS2 MODERATE|MISSENSE|tAc/tGc|Y73C|330|MBTPS2|protein_coding|CODING|ENST00000365779|exon_X_21861288_21861436 . 0/1:99:211,0,255 . . X 21861430 rs149889191 A G NON_SYNONYMOUS_CODING MBTPS2 MODERATE|MISSENSE|tAc/tGc|Y73C|519|MBTPS2|protein_coding|CODING|ENST00000379484|exon_X_21861288_21861436 . 0/1:99:211,0,255 . . X 23723711 rs56378612 C G NON_SYNONYMOUS_CODING ACOT9 MODERATE|MISSENSE|Gag/Cag|E229Q|263|ACOT9|protein_coding|CODING|ENST00000473710|exon_X_23723626_23723711 . . . 0/1:99:247,0,255 X 23723711 rs56378612 C G NON_SYNONYMOUS_CODING ACOT9 MODERATE|MISSENSE|Gag/Cag|E243Q|379|ACOT9|protein_coding|CODING|ENST00000379295|exon_X_23723626_23723711 . . . 0/1:99:247,0,255 X 23723711 rs56378612 C G NON_SYNONYMOUS_CODING ACOT9 MODERATE|MISSENSE|Gag/Cag|E303Q|439|ACOT9|protein_coding|CODING|ENST00000336430|exon_X_23723626_23723711 . . . 0/1:99:247,0,255 X 23723711 rs56378612 C G NON_SYNONYMOUS_CODING ACOT9 MODERATE|MISSENSE|Gag/Cag|E312Q|448|ACOT9|protein_coding|CODING|ENST00000379303|exon_X_23723626_23723711 . . . 0/1:99:247,0,255 X 23723961 rs181259615 C T NON_SYNONYMOUS_CODING ACOT9 MODERATE|MISSENSE|cGg/cAg|R203Q|263|ACOT9|protein_coding|CODING|ENST00000473710|exon_X_23723885_23723975 1/1:87:255,45,0 . . . X 23723961 rs181259615 C T NON_SYNONYMOUS_CODING ACOT9 MODERATE|MISSENSE|cGg/cAg|R217Q|379|ACOT9|protein_coding|CODING|ENST00000379295|exon_X_23723885_23723975 1/1:87:255,45,0 . . . X 23723961 rs181259615 C T NON_SYNONYMOUS_CODING ACOT9 MODERATE|MISSENSE|cGg/cAg|R277Q|439|ACOT9|protein_coding|CODING|ENST00000336430|exon_X_23723885_23723975 1/1:87:255,45,0 . . . X 23723961 rs181259615 C T NON_SYNONYMOUS_CODING ACOT9 MODERATE|MISSENSE|cGg/cAg|R286Q|448|ACOT9|protein_coding|CODING|ENST00000379303|exon_X_23723885_23723975 1/1:87:255,45,0 . . . X 26212256 rs4630029 G A NON_SYNONYMOUS_CODING MAGEB6 MODERATE|MISSENSE|cGt/cAt|R98H|407|MAGEB6|protein_coding|CODING|ENST00000379034|exon_X_26211903_26213763 . . 0/1:99:128,0,255 . X 26212262 rs4272533 C T NON_SYNONYMOUS_CODING MAGEB6 MODERATE|MISSENSE|gCc/gTc|A100V|407|MAGEB6|protein_coding|CODING|ENST00000379034|exon_X_26211903_26213763 . . 0/1:99:106,0,233 . X 31089842 rs143159310 G A NON_SYNONYMOUS_CODING FTHL17 MODERATE|MISSENSE|Cgc/Tgc|R77C|183|FTHL17|protein_coding|CODING|ENST00000359202|exon_X_31089360_31090170 . . 0/1:99:211,0,158 . X 31893307 rs1800275 T G NON_SYNONYMOUS_CODING DMD MODERATE|MISSENSE|Aag/Cag|K1022Q|2340|DMD|protein_coding|CODING|ENST00000378684|exon_X_31893305_31893490 . . 0/1:99:255,0,255 0/1:99:138,0,255 X 31893307 rs1800275 T G NON_SYNONYMOUS_CODING DMD MODERATE|MISSENSE|Aag/Cag|K1025Q|2343|DMD|protein_coding|CODING|ENST00000378682|exon_X_31893305_31893490 . . 0/1:99:255,0,255 0/1:99:138,0,255 X 31893307 rs1800275 T G NON_SYNONYMOUS_CODING DMD MODERATE|MISSENSE|Aag/Cag|K2243Q|3562|DMD|protein_coding|CODING|ENST00000535280|exon_X_31893305_31893490 . . 0/1:99:255,0,255 0/1:99:138,0,255 X 31893307 rs1800275 T G NON_SYNONYMOUS_CODING DMD MODERATE|MISSENSE|Aag/Cag|K2358Q|3676|DMD|protein_coding|CODING|ENST00000534884|exon_X_31893305_31893490 . . 0/1:99:255,0,255 0/1:99:138,0,255 X 31893307 rs1800275 T G NON_SYNONYMOUS_CODING DMD MODERATE|MISSENSE|Aag/Cag|K2362Q|3681|DMD|protein_coding|CODING|ENST00000378677|exon_X_31893305_31893490 . . 0/1:99:255,0,255 0/1:99:138,0,255 X 31893307 rs1800275 T G NON_SYNONYMOUS_CODING DMD MODERATE|MISSENSE|Aag/Cag|K2366Q|3685|DMD|protein_coding|CODING|ENST00000357033|exon_X_31893305_31893490 . . 0/1:99:255,0,255 0/1:99:138,0,255 X 31893307 rs1800275 T G NON_SYNONYMOUS_CODING DMD MODERATE|MISSENSE|Aag/Cag|K2366Q|3685|DMD|protein_coding|CODING|ENST00000542849|exon_X_31893305_31893490 . . 0/1:99:255,0,255 0/1:99:138,0,255 X 31893307 rs1800275 T G NON_SYNONYMOUS_CODING DMD MODERATE|MISSENSE|Aag/Cag|K62Q|1386|DMD|protein_coding|CODING|ENST00000358062|exon_X_31893305_31893490 . . 0/1:99:255,0,255 0/1:99:138,0,255 X 34148882 rs5973089 C T NON_SYNONYMOUS_CODING FAM47A MODERATE|MISSENSE|cGc/cAc|R505H|791|FAM47A|protein_coding|CODING|ENST00000346193|exon_X_34147869_34150447 . . . 0/1:56:53,0,167 X 34149267 rs1811716 C A NON_SYNONYMOUS_CODING FAM47A MODERATE|MISSENSE|Gcg/Tcg|A377S|791|FAM47A|protein_coding|CODING|ENST00000346193|exon_X_34147869_34150447 1/1:27:127,15,0 0/1:99:231,0,160 . . X 36007614 rs6629027 T G NON_SYNONYMOUS_CODING CXorf22 MODERATE|MISSENSE|ttT/ttG|F964L|976|CXorf22|protein_coding|CODING|ENST00000297866|exon_X_36007436_36008264 1/1:75:255,39,0 . . . X 36371719 rs41309695 T A NON_SYNONYMOUS_CODING CXorf30 MODERATE|MISSENSE|tTt/tAt|F371Y|633|CXorf30|protein_coding|CODING|ENST00000378657|exon_X_36371644_36371796 1/1:99:255,57,0 . . . X 36371719 rs41309695 T A NON_SYNONYMOUS_CODING CXorf30 MODERATE|MISSENSE|tTt/tAt|F656Y|918|CXorf30|protein_coding|CODING|ENST00000378653|exon_X_36371644_36371796 1/1:99:255,57,0 . . . X 36403036 rs6527569 A G NON_SYNONYMOUS_CODING CXorf30 MODERATE|MISSENSE|cAt/cGt|H606R|633|CXorf30|protein_coding|CODING|ENST00000378657|exon_X_36402912_36403431 1/1:99:255,51,0 . . . X 36403036 rs6527569 A G NON_SYNONYMOUS_CODING CXorf30 MODERATE|MISSENSE|cAt/cGt|H891R|918|CXorf30|protein_coding|CODING|ENST00000378653|exon_X_36402912_36403178 1/1:99:255,51,0 . . . X 37029199 rs56928700 A G NON_SYNONYMOUS_CODING FAM47C MODERATE|MISSENSE|Atg/Gtg|M906V|1035|FAM47C|protein_coding|CODING|ENST00000358047|exon_X_37026432_37029739 1/1:99:255,57,0 . . . X 38009121 rs35318931 G A NON_SYNONYMOUS_CODING SRPX MODERATE|MISSENSE|tCc/tTc|S354F|405|SRPX|protein_coding|CODING|ENST00000432886|exon_X_38008589_38009147 . 1/1:99:255,102,0 . . X 38009121 rs35318931 G A NON_SYNONYMOUS_CODING SRPX MODERATE|MISSENSE|tCc/tTc|S393F|444|SRPX|protein_coding|CODING|ENST00000544439|exon_X_38008589_38009147 . 1/1:99:255,102,0 . . X 38009121 rs35318931 G A NON_SYNONYMOUS_CODING SRPX MODERATE|MISSENSE|tCc/tTc|S400F|451|SRPX|protein_coding|CODING|ENST00000343800|exon_X_38008595_38009147 . 1/1:99:255,102,0 . . X 38009121 rs35318931 G A NON_SYNONYMOUS_CODING SRPX MODERATE|MISSENSE|tCc/tTc|S413F|464|SRPX|protein_coding|CODING|ENST00000378533|exon_X_38008592_38009147 . 1/1:99:255,102,0 . . X 38079975 . CGCAGCAGCAGCAGCAGCAGCAG CGCAGCAGCAGCAGCAGCAG CODON_DELETION SRPX MODERATE||ctg/-|L17-|379|SRPX|protein_coding|CODING|ENST00000538295|exon_X_38079949_38080177 . . . 0/1:99:186,0,191 X 38079975 . CGCAGCAGCAGCAGCAGCAGCAG CGCAGCAGCAGCAGCAGCAG CODON_DELETION SRPX MODERATE||ctg/-|L17-|405|SRPX|protein_coding|CODING|ENST00000432886|exon_X_38079949_38080177 . . . 0/1:99:186,0,191 X 38079975 . CGCAGCAGCAGCAGCAGCAGCAG CGCAGCAGCAGCAGCAGCAG CODON_DELETION SRPX MODERATE||ctg/-|L17-|444|SRPX|protein_coding|CODING|ENST00000544439|exon_X_38079949_38080177 . . . 0/1:99:186,0,191 X 38079975 . CGCAGCAGCAGCAGCAGCAGCAG CGCAGCAGCAGCAGCAGCAG CODON_DELETION SRPX MODERATE||ctg/-|L17-|464|SRPX|protein_coding|CODING|ENST00000378533|exon_X_38079949_38080152 . . . 0/1:99:186,0,191 X 38156584 rs144635565 T C NON_SYNONYMOUS_CODING RPGR MODERATE|MISSENSE|cAa/cGa|Q394R|753|RPGR|protein_coding|CODING|ENST00000309513|exon_X_38156537_38156705 . 1/1:99:255,99,0 . . X 38156584 rs144635565 T C NON_SYNONYMOUS_CODING RPGR MODERATE|MISSENSE|cAa/cGa|Q456R|1020|RPGR|protein_coding|CODING|ENST00000339363|exon_X_38156537_38156705 . 1/1:99:255,99,0 . . X 38156584 rs144635565 T C NON_SYNONYMOUS_CODING RPGR MODERATE|MISSENSE|cAa/cGa|Q456R|1152|RPGR|protein_coding|CODING|ENST00000378505|exon_X_38156537_38156705 . 1/1:99:255,99,0 . . X 38156584 rs144635565 T C NON_SYNONYMOUS_CODING RPGR MODERATE|MISSENSE|cAa/cGa|Q456R|480|RPGR|protein_coding|CODING|ENST00000338898|exon_X_38156537_38156705 . 1/1:99:255,99,0 . . X 38156584 rs144635565 T C NON_SYNONYMOUS_CODING RPGR MODERATE|MISSENSE|cAa/cGa|Q456R|646|RPGR|protein_coding|CODING|ENST00000342811|exon_X_38156537_38156705 . 1/1:99:255,99,0 . . X 38156584 rs144635565 T C NON_SYNONYMOUS_CODING RPGR MODERATE|MISSENSE|cAa/cGa|Q456R|815|RPGR|protein_coding|CODING|ENST00000318842|exon_X_38156537_38156705 . 1/1:99:255,99,0 . . X 38664744 rs143008624 G A NON_SYNONYMOUS_CODING MID1IP1 MODERATE|MISSENSE|gGc/gAc|G182D|183|MID1IP1|protein_coding|CODING|ENST00000336949|exon_X_38663936_38665790 . . 0/1:99:255,0,159 . X 38664744 rs143008624 G A NON_SYNONYMOUS_CODING MID1IP1 MODERATE|MISSENSE|gGc/gAc|G182D|183|MID1IP1|protein_coding|CODING|ENST00000378474|exon_X_38663936_38665686 . . 0/1:99:255,0,159 . X 38664744 rs143008624 G A NON_SYNONYMOUS_CODING MID1IP1 MODERATE|MISSENSE|gGc/gAc|G182D|183|MID1IP1|protein_coding|CODING|ENST00000457894|exon_X_38663936_38665781 . . 0/1:99:255,0,159 . X 44091828 rs3747354 C G NON_SYNONYMOUS_CODING EFHC2 MODERATE|MISSENSE|Gag/Cag|E507Q|749|EFHC2|protein_coding|CODING|ENST00000333807|exon_X_44091727_44091923 1/1:99:255,60,0 . . . X 44091828 rs3747354 C G NON_SYNONYMOUS_CODING EFHC2 MODERATE|MISSENSE|Gag/Cag|E535Q|777|EFHC2|protein_coding|CODING|ENST00000420999|exon_X_44091727_44091923 1/1:99:255,60,0 . . . X 44094566 rs185793924 T C NON_SYNONYMOUS_CODING EFHC2 MODERATE|MISSENSE|Ata/Gta|I470V|749|EFHC2|protein_coding|CODING|ENST00000333807|exon_X_44094551_44094693 1/1:99:255,57,0 . . . X 44094566 rs185793924 T C NON_SYNONYMOUS_CODING EFHC2 MODERATE|MISSENSE|Ata/Gta|I498V|777|EFHC2|protein_coding|CODING|ENST00000420999|exon_X_44094551_44094693 1/1:99:255,57,0 . . . X 44094685 rs2208592 G T NON_SYNONYMOUS_CODING EFHC2 MODERATE|MISSENSE|tCc/tAc|S234Y|250|EFHC2|protein_coding|CODING|ENST00000378056|exon_X_44094669_44094693 . 0/1:99:255,0,219 . . X 44094685 rs2208592 G T NON_SYNONYMOUS_CODING EFHC2 MODERATE|MISSENSE|tCc/tAc|S430Y|749|EFHC2|protein_coding|CODING|ENST00000333807|exon_X_44094551_44094693 . 0/1:99:255,0,219 . . X 44094685 rs2208592 G T NON_SYNONYMOUS_CODING EFHC2 MODERATE|MISSENSE|tCc/tAc|S458Y|777|EFHC2|protein_coding|CODING|ENST00000420999|exon_X_44094551_44094693 . 0/1:99:255,0,219 . . X 44171953 rs17146914 T C NON_SYNONYMOUS_CODING EFHC2 MODERATE|MISSENSE|aAt/aGt|N31S|749|EFHC2|protein_coding|CODING|ENST00000333807|exon_X_44171814_44172002 . 0/1:99:255,0,255 . . X 44171953 rs17146914 T C NON_SYNONYMOUS_CODING EFHC2 MODERATE|MISSENSE|aAt/aGt|N59S|777|EFHC2|protein_coding|CODING|ENST00000420999|exon_X_44171814_44172002 . 0/1:99:255,0,255 . . X 47308224 rs2498170 A C NON_SYNONYMOUS_CODING ZNF41 MODERATE|MISSENSE|gaT/gaG|D315E|779|ZNF41|protein_coding|CODING|ENST00000313116|exon_X_47305278_47308873 . . 0/1:99:246,0,255 . X 47308224 rs2498170 A C NON_SYNONYMOUS_CODING ZNF41 MODERATE|MISSENSE|gaT/gaG|D315E|779|ZNF41|protein_coding|CODING|ENST00000377065|exon_X_47305278_47308873 . . 0/1:99:246,0,255 . X 47308224 rs2498170 A C NON_SYNONYMOUS_CODING ZNF41 MODERATE|MISSENSE|gaT/gaG|D325E|789|ZNF41|protein_coding|CODING|ENST00000397050|exon_X_47305561_47308873 . . 0/1:99:246,0,255 . X 47705674 rs183846665 C T NON_SYNONYMOUS_CODING ZNF81 MODERATE|MISSENSE|gCt/gTt|A3V|102|ZNF81|protein_coding|CODING|ENST00000376950|exon_X_47705504_47705720 . . . 0/1:99:255,0,182 X 47705674 rs183846665 C T NON_SYNONYMOUS_CODING ZNF81 MODERATE|MISSENSE|gCt/gTt|A3V|122|ZNF81|protein_coding|CODING|ENST00000399918|exon_X_47705471_47705720 . . . 0/1:99:255,0,182 X 47705674 rs183846665 C T NON_SYNONYMOUS_CODING ZNF81 MODERATE|MISSENSE|gCt/gTt|A3V|661|ZNF81|protein_coding|CODING|ENST00000338637|exon_X_47705504_47705720 . . . 0/1:99:255,0,182 X 47705674 rs183846665 C T NON_SYNONYMOUS_CODING ZNF81 MODERATE|MISSENSE|gCt/gTt|A3V|661|ZNF81|protein_coding|CODING|ENST00000376954|exon_X_47705504_47705720 . . . 0/1:99:255,0,182 X 47705674 rs183846665 C T NON_SYNONYMOUS_CODING ZNF81 MODERATE|MISSENSE|gCt/gTt|A3V|69|ZNF81|protein_coding|CODING|ENST00000334937|exon_X_47705504_47705720 . . . 0/1:99:255,0,182 X 48838048 rs35608115 T G NON_SYNONYMOUS_CODING GRIPAP1 MODERATE|MISSENSE|gAg/gCg|E499A|625|GRIPAP1|protein_coding|CODING|ENST00000376423|exon_X_48838008_48838103 . . 0/1:99:167,0,255 . X 48838048 rs35608115 T G NON_SYNONYMOUS_CODING GRIPAP1 MODERATE|MISSENSE|gAg/gCg|E533A|796|GRIPAP1|protein_coding|CODING|ENST00000376444|exon_X_48838008_48838103 . . 0/1:99:167,0,255 . X 48838048 rs35608115 T G NON_SYNONYMOUS_CODING GRIPAP1 MODERATE|MISSENSE|gAg/gCg|E547A|810|GRIPAP1|protein_coding|CODING|ENST00000376425|exon_X_48838008_48838103 . . 0/1:99:167,0,255 . X 48838048 rs35608115 T G NON_SYNONYMOUS_CODING GRIPAP1 MODERATE|MISSENSE|gAg/gCg|E547A|810|GRIPAP1|protein_coding|CODING|ENST00000537291|exon_X_48838008_48838103 . . 0/1:99:167,0,255 . X 48838048 rs35608115 T G NON_SYNONYMOUS_CODING GRIPAP1 MODERATE|MISSENSE|gAg/gCg|E578A|841|GRIPAP1|protein_coding|CODING|ENST00000376441|exon_X_48838008_48838103 . . 0/1:99:167,0,255 . X 49355893 . C G NON_SYNONYMOUS_CODING GAGE2A MODERATE|MISSENSE|Cag/Gag|Q59E|116|GAGE2A|protein_coding|CODING|ENST00000362097|exon_X_49355800_49355920 . . . 0/1:83:80,0,226 X 49958555 rs147096241 A G NON_SYNONYMOUS_CODING AKAP4 MODERATE|MISSENSE|aTt/aCt|I261T|845|AKAP4|protein_coding|CODING|ENST00000376056|exon_X_49956955_49959087 . 0/1:99:255,0,255 . . X 49958555 rs147096241 A G NON_SYNONYMOUS_CODING AKAP4 MODERATE|MISSENSE|aTt/aCt|I261T|845|AKAP4|protein_coding|CODING|ENST00000376064|exon_X_49956955_49959087 . 0/1:99:255,0,255 . . X 49958555 rs147096241 A G NON_SYNONYMOUS_CODING AKAP4 MODERATE|MISSENSE|aTt/aCt|I270T|854|AKAP4|protein_coding|CODING|ENST00000358526|exon_X_49956955_49959087 . 0/1:99:255,0,255 . . X 50037948 rs151272775 C T NON_SYNONYMOUS_CODING CCNB3 MODERATE|MISSENSE|aCa/aTa|T97I|110|CCNB3|protein_coding|CODING|ENST00000396540|exon_X_50037863_50037993 . . 0/1:99:255,0,255 . X 50037948 rs151272775 C T NON_SYNONYMOUS_CODING CCNB3 MODERATE|MISSENSE|aCa/aTa|T97I|1395|CCNB3|protein_coding|CODING|ENST00000276014|exon_X_50037863_50037993 . . 0/1:99:255,0,255 . X 50037948 rs151272775 C T NON_SYNONYMOUS_CODING CCNB3 MODERATE|MISSENSE|aCa/aTa|T97I|1395|CCNB3|protein_coding|CODING|ENST00000376042|exon_X_50037863_50037993 . . 0/1:99:255,0,255 . X 50054170 rs6614336 G C NON_SYNONYMOUS_CODING CCNB3 MODERATE|MISSENSE|Ggt/Cgt|G1001R|1395|CCNB3|protein_coding|CODING|ENST00000276014|exon_X_50051505_50054496 1/1:99:255,57,0 . . . X 50054170 rs6614336 G C NON_SYNONYMOUS_CODING CCNB3 MODERATE|MISSENSE|Ggt/Cgt|G1001R|1395|CCNB3|protein_coding|CODING|ENST00000376042|exon_X_50051505_50054496 1/1:99:255,57,0 . . . X 50350758 . CTGCTGCTGCTGTTGCTGCT CTGCTGCTGCTGTTGCTGCTGCTGTTGCTGCT CODON_INSERTION SHROOM4 MODERATE||-/AGCAGCAACAGC|-1006SSNS|1377|SHROOM4|protein_coding|CODING|ENST00000460112|exon_X_50350381_50351184 . . . 0/1:99:122,0,188 X 50350758 . CTGCTGCTGCTGTTGCTGCT CTGCTGCTGCTGTTGCTGCTGCTGTTGCTGCT CODON_INSERTION SHROOM4 MODERATE||-/AGCAGCAACAGC|-1122SSNS|1493|SHROOM4|protein_coding|CODING|ENST00000289292|exon_X_50350381_50351184 . . . 0/1:99:122,0,188 X 50350758 . CTGCTGCTGCTGTTGCTGCT CTGCTGCTGCTGTTGCTGCTGCTGTTGCTGCT CODON_INSERTION SHROOM4 MODERATE||-/AGCAGCAACAGC|-1122SSNS|1493|SHROOM4|protein_coding|CODING|ENST00000376020|exon_X_50350381_50351184 . . . 0/1:99:122,0,188 X 52674514 rs140796367 G T NON_SYNONYMOUS_CODING SSX7 MODERATE|MISSENSE|gaC/gaA|D182E|188|SSX7|protein_coding|CODING|ENST00000298181|exon_X_52674489_52674593 . 0/1:99:247,0,187 . . X 52674516 rs5986182 C T NON_SYNONYMOUS_CODING SSX7 MODERATE|MISSENSE|Gac/Aac|D182N|188|SSX7|protein_coding|CODING|ENST00000298181|exon_X_52674489_52674593 . . . 0/1:99:219,0,153 X 52679429 rs148578012 A G NON_SYNONYMOUS_CODING SSX7 MODERATE|MISSENSE|Tgc/Cgc|C102R|188|SSX7|protein_coding|CODING|ENST00000298181|exon_X_52679403_52679452 . . . 0/1:99:255,0,255 X 52681976 rs3122210 A G NON_SYNONYMOUS_CODING SSX7 MODERATE|MISSENSE|tTg/tCg|L43S|188|SSX7|protein_coding|CODING|ENST00000298181|exon_X_52681920_52682034 . . . 0/1:99:220,0,255 X 54112185 rs41304786 C T NON_SYNONYMOUS_CODING FAM120C MODERATE|MISSENSE|atG/atA|M934I|1096|FAM120C|protein_coding|CODING|ENST00000375180|exon_X_54112148_54112349 . 0/1:99:255,0,189 . 0/1:99:142,0,255 X 54951464 rs45448595 C T NON_SYNONYMOUS_CODING TRO MODERATE|MISSENSE|cCa/cTa|P14L|962|TRO|protein_coding|CODING|ENST00000420798|exon_X_54951422_54951501 . 0/1:99:255,0,255 . . X 54951464 rs45448595 C T NON_SYNONYMOUS_CODING TRO MODERATE|MISSENSE|cCa/cTa|P483L|1431|TRO|protein_coding|CODING|ENST00000173898|exon_X_54951422_54951501 . 0/1:99:255,0,255 . . X 54951464 rs45448595 C T NON_SYNONYMOUS_CODING TRO MODERATE|MISSENSE|cCa/cTa|P483L|706|TRO|protein_coding|CODING|ENST00000319167|exon_X_54951422_54951501 . 0/1:99:255,0,255 . . X 54951464 rs45448595 C T NON_SYNONYMOUS_CODING TRO MODERATE|MISSENSE|cCa/cTa|P483L|706|TRO|protein_coding|CODING|ENST00000375022|exon_X_54951422_54951501 . 0/1:99:255,0,255 . . X 54951464 rs45448595 C T NON_SYNONYMOUS_CODING TRO MODERATE|MISSENSE|cCa/cTa|P86L|101|TRO|protein_coding|CODING|ENST00000431115|exon_X_54951422_54951501 . 0/1:99:255,0,255 . . X 54951464 rs45448595 C T NON_SYNONYMOUS_CODING TRO MODERATE|MISSENSE|cCa/cTa|P86L|1034|TRO|protein_coding|CODING|ENST00000375041|exon_X_54951422_54951501 . 0/1:99:255,0,255 . . X 54951464 rs45448595 C T NON_SYNONYMOUS_CODING TRO MODERATE|MISSENSE|cCa/cTa|P86L|309|TRO|protein_coding|CODING|ENST00000399736|exon_X_54951422_54951501 . 0/1:99:255,0,255 . . X 54951464 rs45448595 C T NON_SYNONYMOUS_CODING TRO MODERATE|MISSENSE|cCa/cTa|P86L|357|TRO|protein_coding|CODING|ENST00000319179|exon_X_54951422_54951501 . 0/1:99:255,0,255 . . X 55116478 rs150926284 T A NON_SYNONYMOUS_CODING PAGE2 MODERATE|MISSENSE|Tcc/Acc|S9T|111|PAGE2|protein_coding|CODING|ENST00000374968|exon_X_55116446_55116537 . . 0/1:99:255,0,255 . X 55116478 rs150926284 T A NON_SYNONYMOUS_CODING PAGE2 MODERATE|MISSENSE|Tcc/Acc|S9T|63|PAGE2|protein_coding|CODING|ENST00000449097|exon_X_55116446_55116537 . . 0/1:99:255,0,255 . X 55116478 rs150926284 T A NON_SYNONYMOUS_CODING PAGE2 MODERATE|MISSENSE|Tcc/Acc|S9T|94|PAGE2|protein_coding|CODING|ENST00000374965|exon_X_55116446_55116537 . . 0/1:99:255,0,255 . X 57936251 rs139564495 T C NON_SYNONYMOUS_CODING ZXDA MODERATE|MISSENSE|Agg/Ggg|R202G|799|ZXDA|protein_coding|CODING|ENST00000358697|exon_X_57931864_57937067 . 0/1:99:152,0,200 . . X 66765158 . TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA CODON_CHANGE_PLUS_CODON_DELETION AR MODERATE||cagcagcagcaa/caa|QQQQ77Q|644|AR|protein_coding|CODING|ENST00000504326|exon_X_66764662_66766604 . 1/1:16:100,9,0 . . X 66765158 . TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA CODON_CHANGE_PLUS_CODON_DELETION AR MODERATE||cagcagcagcaa/caa|QQQQ77Q|734|AR|protein_coding|CODING|ENST00000396044|exon_X_66764986_66766604 . 1/1:16:100,9,0 . . X 66765158 . TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA CODON_CHANGE_PLUS_CODON_DELETION AR MODERATE||cagcagcagcaa/caa|QQQQ77Q|920|AR|protein_coding|CODING|ENST00000374690|exon_X_66764465_66766604 . 1/1:16:100,9,0 . . X 66766183 . T C NON_SYNONYMOUS_CODING AR MODERATE|MISSENSE|Tgg/Cgg|W209R|738|AR|protein_coding|CODING|ENST00000544984|exon_X_66763874_66766604 . . 0/1:99:120,0,130 . X 66766183 . T C NON_SYNONYMOUS_CODING AR MODERATE|MISSENSE|Tgg/Cgg|W391R|531|AR|protein_coding|CODING|ENST00000538891|exon_X_66765226_66766608 . . 0/1:99:120,0,130 . X 66766183 . T C NON_SYNONYMOUS_CODING AR MODERATE|MISSENSE|Tgg/Cgg|W399R|644|AR|protein_coding|CODING|ENST00000504326|exon_X_66764662_66766604 . . 0/1:99:120,0,130 . X 66766183 . T C NON_SYNONYMOUS_CODING AR MODERATE|MISSENSE|Tgg/Cgg|W399R|734|AR|protein_coding|CODING|ENST00000396044|exon_X_66764986_66766604 . . 0/1:99:120,0,130 . X 66766183 . T C NON_SYNONYMOUS_CODING AR MODERATE|MISSENSE|Tgg/Cgg|W399R|920|AR|protein_coding|CODING|ENST00000374690|exon_X_66764465_66766604 . . 0/1:99:120,0,130 . X 67652748 rs41303733 C T NON_SYNONYMOUS_CODING OPHN1 MODERATE|MISSENSE|Gta/Ata|V39I|694|OPHN1|protein_coding|CODING|ENST00000540071|exon_X_67652709_67652866 . 0/1:99:255,0,255 . . X 67652748 rs41303733 C T NON_SYNONYMOUS_CODING OPHN1 MODERATE|MISSENSE|Gta/Ata|V39I|802|OPHN1|protein_coding|CODING|ENST00000355520|exon_X_67652709_67652866 . 0/1:99:255,0,255 . . X 69478801 rs202027224 C G NON_SYNONYMOUS_CODING P2RY4 MODERATE|MISSENSE|cGt/cCt|R225P|365|P2RY4|protein_coding|CODING|ENST00000374519|exon_X_69478016_69479654 . . . 0/1:73:70,0,159 X 70361151 . ACAGCAACACCAGCAGCAACA ACAGCAACACCAGCAGCAACACCAGCAGCAACA CODON_CHANGE_PLUS_CODON_INSERTION MED12 MODERATE||cag/caCCAGCAGCAACAg|Q2070HQQQQ|2127|MED12|protein_coding|CODING|ENST00000430072|exon_X_70361080_70361220 . 0/1:12:151,0,9 . . X 70361151 . ACAGCAACACCAGCAGCAACA ACAGCAACACCAGCAGCAACACCAGCAGCAACA CODON_CHANGE_PLUS_CODON_INSERTION MED12 MODERATE||cag/caCCAGCAGCAACAg|Q2119HQQQQ|2176|MED12|protein_coding|CODING|ENST00000374102|exon_X_70361080_70361220 . 0/1:12:151,0,9 . . X 70361151 . ACAGCAACACCAGCAGCAACA ACAGCAACACCAGCAGCAACACCAGCAGCAACA CODON_CHANGE_PLUS_CODON_INSERTION MED12 MODERATE||cag/caCCAGCAGCAACAg|Q2120HQQQQ|2177|MED12|protein_coding|CODING|ENST00000374080|exon_X_70361080_70361220 . 0/1:12:151,0,9 . . X 70361151 . ACAGCAACACCAGCAGCAACA ACAGCAACACCAGCAGCAACACCAGCAGCAACA CODON_CHANGE_PLUS_CODON_INSERTION MED12 MODERATE||cag/caCCAGCAGCAACAg|Q2123HQQQQ|2180|MED12|protein_coding|CODING|ENST00000333646|exon_X_70361080_70361220 . 0/1:12:151,0,9 . . X 70361151 . ACAGCAACACCAGCAGCAACA ACAGCAACACCAGCAGCAACACCAGCAGCAACA CODON_CHANGE_PLUS_CODON_INSERTION MED12 MODERATE||cag/caCCAGCAGCAACAg|Q868HQQQQ|925|MED12|protein_coding|CODING|ENST00000439750|exon_X_70361080_70361220 . 0/1:12:151,0,9 . . X 75649060 rs41298484 C A NON_SYNONYMOUS_CODING MAGEE1 MODERATE|MISSENSE|aCc/aAc|T246N|957|MAGEE1|protein_coding|CODING|ENST00000361470|exon_X_75648046_75651744 . . . 0/1:99:211,0,137 X 85233820 rs145707160 T A NON_SYNONYMOUS_CODING CHM MODERATE|MISSENSE|Agc/Tgc|S89C|110|CHM|protein_coding|CODING|ENST00000358786|exon_X_85233771_85233895 . 0/1:99:255,0,255 . . X 85233820 rs145707160 T A NON_SYNONYMOUS_CODING CHM MODERATE|MISSENSE|Agc/Tgc|S89C|653|CHM|protein_coding|CODING|ENST00000357749|exon_X_85233771_85233895 . 0/1:99:255,0,255 . . X 89177109 rs11575111 G C NON_SYNONYMOUS_CODING TGIF2LX MODERATE|MISSENSE|Gct/Cct|A9P|241|TGIF2LX|protein_coding|CODING|ENST00000283891|exon_X_89177064_89177984 . 0/1:99:182,0,152 . . X 89177109 rs11575111 G C NON_SYNONYMOUS_CODING TGIF2LX MODERATE|MISSENSE|Gct/Cct|A9P|241|TGIF2LX|protein_coding|CODING|ENST00000561129|exon_X_89176955_89177810 . 0/1:99:182,0,152 . . X 92964617 rs34123774 G A NON_SYNONYMOUS_CODING FAM133A MODERATE|MISSENSE|Gaa/Aaa|E67K|248|FAM133A|protein_coding|CODING|ENST00000322139|exon_X_92964316_92967273 . . . 0/1:99:255,0,255 X 92964617 rs34123774 G A NON_SYNONYMOUS_CODING FAM133A MODERATE|MISSENSE|Gaa/Aaa|E67K|248|FAM133A|protein_coding|CODING|ENST00000332647|exon_X_92964316_92967261 . . . 0/1:99:255,0,255 X 92964617 rs34123774 G A NON_SYNONYMOUS_CODING FAM133A MODERATE|MISSENSE|Gaa/Aaa|E67K|248|FAM133A|protein_coding|CODING|ENST00000355813|exon_X_92964316_92967273 . . . 0/1:99:255,0,255 X 92964617 rs34123774 G A NON_SYNONYMOUS_CODING FAM133A MODERATE|MISSENSE|Gaa/Aaa|E67K|248|FAM133A|protein_coding|CODING|ENST00000538690|exon_X_92964316_92967273 . . . 0/1:99:255,0,255 X 100490933 rs7066252 G C NON_SYNONYMOUS_CODING DRP2 MODERATE|MISSENSE|Gtt/Ctt|V68L|957|DRP2|protein_coding|CODING|ENST00000395209|exon_X_100490849_100491012 . 0/1:99:250,0,255 . . X 100490933 rs7066252 G C NON_SYNONYMOUS_CODING DRP2 MODERATE|MISSENSE|Gtt/Ctt|V68L|957|DRP2|protein_coding|CODING|ENST00000402866|exon_X_100490849_100491012 . 0/1:99:250,0,255 . . X 100490933 rs7066252 G C NON_SYNONYMOUS_CODING DRP2 MODERATE|MISSENSE|Gtt/Ctt|V68L|957|DRP2|protein_coding|CODING|ENST00000538510|exon_X_100490849_100491012 . 0/1:99:250,0,255 . . X 100532621 rs35899692 T C NON_SYNONYMOUS_CODING TAF7L MODERATE|MISSENSE|Agc/Ggc|S222G|302|TAF7L|protein_coding|CODING|ENST00000324762|exon_X_100532594_100532707 . 0/1:99:191,0,255 . . X 100532621 rs35899692 T C NON_SYNONYMOUS_CODING TAF7L MODERATE|MISSENSE|Agc/Ggc|S222G|302|TAF7L|protein_coding|CODING|ENST00000372905|exon_X_100532594_100532707 . 0/1:99:191,0,255 . . X 100532621 rs35899692 T C NON_SYNONYMOUS_CODING TAF7L MODERATE|MISSENSE|Agc/Ggc|S222G|376|TAF7L|protein_coding|CODING|ENST00000356784|exon_X_100532594_100532707 . 0/1:99:191,0,255 . . X 100532621 rs35899692 T C NON_SYNONYMOUS_CODING TAF7L MODERATE|MISSENSE|Agc/Ggc|S308G|462|TAF7L|protein_coding|CODING|ENST00000372907|exon_X_100532594_100532707 . 0/1:99:191,0,255 . . X 100747453 rs73563076 G A NON_SYNONYMOUS_CODING ARMCX4 MODERATE|MISSENSE|Gct/Act|A1397T|2394|ARMCX4|protein_coding|CODING|ENST00000423738|exon_X_100743431_100750794 . 0/1:99:255,0,231 . . X 100747694 rs61736018 G C NON_SYNONYMOUS_CODING ARMCX4 MODERATE|MISSENSE|aGt/aCt|S1477T|2394|ARMCX4|protein_coding|CODING|ENST00000423738|exon_X_100743431_100750794 . 0/1:99:248,0,179 . . X 101909785 rs17339512 C G NON_SYNONYMOUS_CODING GPRASP1 MODERATE|MISSENSE|gCc/gGc|A315G|1395|GPRASP1|protein_coding|CODING|ENST00000361600|exon_X_101908508_101913385 . . 0/1:99:255,0,223 . X 101909785 rs17339512 C G NON_SYNONYMOUS_CODING GPRASP1 MODERATE|MISSENSE|gCc/gGc|A315G|1395|GPRASP1|protein_coding|CODING|ENST00000415986|exon_X_101908508_101914008 . . 0/1:99:255,0,223 . X 101909785 rs17339512 C G NON_SYNONYMOUS_CODING GPRASP1 MODERATE|MISSENSE|gCc/gGc|A315G|1395|GPRASP1|protein_coding|CODING|ENST00000444152|exon_X_101908508_101914008 . . 0/1:99:255,0,223 . X 101909785 rs17339512 C G NON_SYNONYMOUS_CODING GPRASP1 MODERATE|MISSENSE|gCc/gGc|A315G|1395|GPRASP1|protein_coding|CODING|ENST00000537097|exon_X_101908508_101914008 . . 0/1:99:255,0,223 . X 101970441 . G C NON_SYNONYMOUS_CODING GPRASP2 MODERATE|MISSENSE|aGa/aCa|R215T|838|GPRASP2|protein_coding|CODING|ENST00000332262|exon_X_101969465_101972661 1/1:75:255,39,0 . . . X 101970441 . G C NON_SYNONYMOUS_CODING GPRASP2 MODERATE|MISSENSE|aGa/aCa|R215T|838|GPRASP2|protein_coding|CODING|ENST00000535209|exon_X_101969337_101973607 1/1:75:255,39,0 . . . X 101970441 . G C NON_SYNONYMOUS_CODING GPRASP2 MODERATE|MISSENSE|aGa/aCa|R215T|838|GPRASP2|protein_coding|CODING|ENST00000543253|exon_X_101969337_101973607 1/1:75:255,39,0 . . . X 105192651 . G A NON_SYNONYMOUS_CODING NRK MODERATE|MISSENSE|cGc/cAc|R7H|163|NRK|protein_coding|CODING|ENST00000540278|exon_X_105192430_105192751 . . . 0/1:99:255,0,255 X 106109101 rs200442529 G A NON_SYNONYMOUS_CODING TBC1D8B MODERATE|MISSENSE|Gaa/Aaa|E828K|1114|TBC1D8B|protein_coding|CODING|ENST00000276175|exon_X_106109023_106109263 . 0/1:99:255,0,255 . . X 106109101 rs200442529 G A NON_SYNONYMOUS_CODING TBC1D8B MODERATE|MISSENSE|Gaa/Aaa|E834K|1120|TBC1D8B|protein_coding|CODING|ENST00000357242|exon_X_106109023_106109263 . 0/1:99:255,0,255 . . X 106109101 rs200442529 G A NON_SYNONYMOUS_CODING TBC1D8B MODERATE|MISSENSE|Gaa/Aaa|E96K|216|TBC1D8B|protein_coding|CODING|ENST00000394972|exon_X_106109023_106109263 . 0/1:99:255,0,255 . . X 106359895 . G A NON_SYNONYMOUS_CODING RBM41 MODERATE|MISSENSE|tCt/tTt|S37F|205|RBM41|protein_coding|CODING|ENST00000372482|exon_X_106359880_106359996 . . 0/1:99:255,0,253 . X 106359895 . G A NON_SYNONYMOUS_CODING RBM41 MODERATE|MISSENSE|tCt/tTt|S37F|311|RBM41|protein_coding|CODING|ENST00000203616|exon_X_106359880_106359996 . . 0/1:99:255,0,253 . X 106359895 . G A NON_SYNONYMOUS_CODING RBM41 MODERATE|MISSENSE|tCt/tTt|S37F|405|RBM41|protein_coding|CODING|ENST00000372487|exon_X_106359880_106359996 . . 0/1:99:255,0,253 . X 106359895 . G A NON_SYNONYMOUS_CODING RBM41 MODERATE|MISSENSE|tCt/tTt|S37F|413|RBM41|protein_coding|CODING|ENST00000372479|exon_X_106359880_106359996 . . 0/1:99:255,0,253 . X 108708664 . T C NON_SYNONYMOUS_CODING GUCY2F MODERATE|MISSENSE|Atg/Gtg|M247V|1108|GUCY2F|protein_coding|CODING|ENST00000218006|exon_X_108708371_108708672 1/1:99:255,54,0 . . . X 108868171 . T C NON_SYNONYMOUS_CODING KCNE1L MODERATE|MISSENSE|Agc/Ggc|S27G|142|KCNE1L|protein_coding|CODING|ENST00000372101|exon_X_108866929_108868393 . . . 0/1:95:92,0,180 X 113965735 rs6318 G C NON_SYNONYMOUS_CODING HTR2C MODERATE|MISSENSE|tGt/tCt|C23S|248|HTR2C|protein_coding|CODING|ENST00000371950|exon_X_113965703_113966016 . . 0/1:99:255,0,255 0/1:99:255,0,149 X 113965735 rs6318 G C NON_SYNONYMOUS_CODING HTR2C MODERATE|MISSENSE|tGt/tCt|C23S|458|HTR2C|protein_coding|CODING|ENST00000276198|exon_X_113965703_113966016 . . 0/1:99:255,0,255 0/1:99:255,0,149 X 113965735 rs6318 G C NON_SYNONYMOUS_CODING HTR2C MODERATE|MISSENSE|tGt/tCt|C23S|458|HTR2C|protein_coding|CODING|ENST00000371951|exon_X_113965703_113966016 . . 0/1:99:255,0,255 0/1:99:255,0,149 X 114141848 . A G NON_SYNONYMOUS_CODING HTR2C MODERATE|MISSENSE|tAt/tGt|Y416C|458|HTR2C|protein_coding|CODING|ENST00000276198|exon_X_114141152_114144624 . . . 0/1:99:255,0,255 X 114141848 . A G NON_SYNONYMOUS_CODING HTR2C MODERATE|MISSENSE|tAt/tGt|Y416C|458|HTR2C|protein_coding|CODING|ENST00000371951|exon_X_114141152_114143070 . . . 0/1:99:255,0,255 X 114424438 rs62601527 C G NON_SYNONYMOUS_CODING RBMXL3 MODERATE|MISSENSE|cCg/cGg|P145R|1067|RBMXL3|protein_coding|CODING|ENST00000424776|exon_X_114423963_114427431 . 0/1:99:225,0,224 0/1:99:218,0,238 . X 114424941 rs62601530 G A NON_SYNONYMOUS_CODING RBMXL3 MODERATE|MISSENSE|Gct/Act|A313T|1067|RBMXL3|protein_coding|CODING|ENST00000424776|exon_X_114423963_114427431 . 0/1:99:192,0,109 0/1:99:176,0,251 . X 114425109 . G T NON_SYNONYMOUS_CODING RBMXL3 MODERATE|MISSENSE|Ggc/Tgc|G369C|1067|RBMXL3|protein_coding|CODING|ENST00000424776|exon_X_114423963_114427431 1/1:63:243,33,0 . . . X 114425238 rs55718100 G A NON_SYNONYMOUS_CODING RBMXL3 MODERATE|MISSENSE|Ggc/Agc|G412S|1067|RBMXL3|protein_coding|CODING|ENST00000424776|exon_X_114423963_114427431 . 0/1:70:67,0,146 0/1:99:121,0,140 . X 114425895 rs201518011 G C NON_SYNONYMOUS_CODING RBMXL3 MODERATE|MISSENSE|Gag/Cag|E631Q|1067|RBMXL3|protein_coding|CODING|ENST00000424776|exon_X_114423963_114427431 . 0/1:99:186,0,213 . . X 114425923 rs142223554 C A NON_SYNONYMOUS_CODING RBMXL3 MODERATE|MISSENSE|gCc/gAc|A640D|1067|RBMXL3|protein_coding|CODING|ENST00000424776|exon_X_114423963_114427431 . 0/1:99:189,0,204 0/1:99:157,0,255 . X 114426385 rs80194951 G A NON_SYNONYMOUS_CODING RBMXL3 MODERATE|MISSENSE|cGc/cAc|R794H|1067|RBMXL3|protein_coding|CODING|ENST00000424776|exon_X_114423963_114427431 . 0/1:99:178,0,255 0/1:99:157,0,232 . X 117732044 rs16995229 A T NON_SYNONYMOUS_CODING DOCK11 MODERATE|MISSENSE|Att/Ttt|I813F|2073|DOCK11|protein_coding|CODING|ENST00000276202|exon_X_117731993_117732079 . 0/1:99:231,0,255 . . X 117732044 rs16995229 A T NON_SYNONYMOUS_CODING DOCK11 MODERATE|MISSENSE|Att/Ttt|I813F|2077|DOCK11|protein_coding|CODING|ENST00000276204|exon_X_117731993_117732079 . 0/1:99:231,0,255 . . X 118219347 rs2305570 T C NON_SYNONYMOUS_CODING KIAA1210 MODERATE|MISSENSE|gAg/gGg|E1616G|1709|KIAA1210|protein_coding|CODING|ENST00000402510|exon_X_118219346_118219509 1/1:75:255,39,0 . . . X 118222099 rs17335909 G A NON_SYNONYMOUS_CODING KIAA1210 MODERATE|MISSENSE|Cgg/Tgg|R1032W|1709|KIAA1210|protein_coding|CODING|ENST00000402510|exon_X_118220509_118223709 1/1:93:255,48,0 . . . X 118222360 rs3761592 T A NON_SYNONYMOUS_CODING KIAA1210 MODERATE|MISSENSE|Atc/Ttc|I945F|1709|KIAA1210|protein_coding|CODING|ENST00000402510|exon_X_118220509_118223709 1/1:99:255,54,0 . . . X 119387848 . ATG ATGGTG CODON_CHANGE_PLUS_CODON_INSERTION ZBTB33 MODERATE||gat/gGTGat|D194GD|672|ZBTB33|protein_coding|CODING|ENST00000326624|exon_X_119387269_119392253 . . . 0/1:94:255,0,91 X 119387848 . ATG ATGGTG CODON_CHANGE_PLUS_CODON_INSERTION ZBTB33 MODERATE||gat/gGTGat|D194GD|672|ZBTB33|protein_coding|CODING|ENST00000557385|exon_X_119387269_119389289 . . . 0/1:94:255,0,91 X 120181632 . C G NON_SYNONYMOUS_CODING GLUD2 MODERATE|MISSENSE|Cgg/Ggg|R32G|558|GLUD2|protein_coding|CODING|ENST00000328078|exon_X_120181462_120183794 1/1:45:206,24,0 . . . X 120183030 rs9697983 T G NON_SYNONYMOUS_CODING GLUD2 MODERATE|MISSENSE|Tcg/Gcg|S498A|558|GLUD2|protein_coding|CODING|ENST00000328078|exon_X_120181462_120183794 . . . 0/1:99:200,0,255 X 123615807 rs145896600 G A NON_SYNONYMOUS_CODING ODZ1 MODERATE|MISSENSE|Cct/Tct|P1235S|2725|ODZ1|protein_coding|CODING|ENST00000371130|exon_X_123615582_123615814 . . 0/1:99:255,0,255 . X 123615807 rs145896600 G A NON_SYNONYMOUS_CODING ODZ1 MODERATE|MISSENSE|Cct/Tct|P1242S|2732|ODZ1|protein_coding|CODING|ENST00000422452|exon_X_123615582_123615814 . . 0/1:99:255,0,255 . X 128884502 rs41311662 G T NON_SYNONYMOUS_CODING XPNPEP2 MODERATE|MISSENSE|aaG/aaT|K232N|674|XPNPEP2|protein_coding|CODING|ENST00000371106|exon_X_128884444_128884545 . . . 0/1:99:129,0,255 X 132160312 . C T NON_SYNONYMOUS_CODING USP26 MODERATE|MISSENSE|cGa/cAa|R646Q|913|USP26|protein_coding|CODING|ENST00000370832|exon_X_132158659_132162300 1/1:51:235,27,0 . . . X 132160312 . C T NON_SYNONYMOUS_CODING USP26 MODERATE|MISSENSE|cGa/cAa|R646Q|913|USP26|protein_coding|CODING|ENST00000406273|exon_X_132159054_132162324 1/1:51:235,27,0 . . . X 132160312 . C T NON_SYNONYMOUS_CODING USP26 MODERATE|MISSENSE|cGa/cAa|R646Q|913|USP26|protein_coding|CODING|ENST00000511190|exon_X_132159054_132162324 1/1:51:235,27,0 . . . X 132351703 rs35745873 C A NON_SYNONYMOUS_CODING TFDP3 MODERATE|MISSENSE|caG/caT|Q195H|405|TFDP3|protein_coding|CODING|ENST00000310125|exon_X_132350697_132352376 . 0/1:99:252,0,255 . . X 132352230 rs28455963 C G NON_SYNONYMOUS_CODING TFDP3 MODERATE|MISSENSE|Gag/Cag|E20Q|405|TFDP3|protein_coding|CODING|ENST00000310125|exon_X_132350697_132352376 . 0/1:99:254,0,220 . . X 134155953 rs74634293 A G NON_SYNONYMOUS_CODING FAM127C MODERATE|MISSENSE|Tgc/Cgc|C74R|207|FAM127C|protein_coding|CODING|ENST00000538706|exon_X_134155849_134156172 . 0/1:99:226,0,135 0/1:99:171,0,226 . X 134947963 rs185809644 T G NON_SYNONYMOUS_CODING CT45A5 MODERATE|MISSENSE|gAa/gCa|E121A|189|CT45A5|protein_coding|CODING|ENST00000370724|exon_X_134947907_134948155 . . 0/1:99:196,0,255 . X 134947963 rs185809644 T G NON_SYNONYMOUS_CODING CT45A5 MODERATE|MISSENSE|gAa/gCa|E121A|189|CT45A5|protein_coding|CODING|ENST00000491480|exon_X_134947907_134948155 . . 0/1:99:196,0,255 . X 135427828 rs41299092 A G NON_SYNONYMOUS_CODING GPR112 MODERATE|MISSENSE|Att/Gtt|I450V|2875|GPR112|protein_coding|CODING|ENST00000394141|exon_X_135426551_135432592 . 0/1:99:255,0,243 . . X 135427828 rs41299092 A G NON_SYNONYMOUS_CODING GPR112 MODERATE|MISSENSE|Att/Gtt|I450V|2875|GPR112|protein_coding|CODING|ENST00000412101|exon_X_135426551_135432592 . 0/1:99:255,0,243 . . X 135427828 rs41299092 A G NON_SYNONYMOUS_CODING GPR112 MODERATE|MISSENSE|Att/Gtt|I592V|2804|GPR112|protein_coding|CODING|ENST00000287534|exon_X_135426551_135432592 . 0/1:99:255,0,243 . . X 135427828 rs41299092 A G NON_SYNONYMOUS_CODING GPR112 MODERATE|MISSENSE|Att/Gtt|I655V|3080|GPR112|protein_coding|CODING|ENST00000370652|exon_X_135426551_135432592 . 0/1:99:255,0,243 . . X 135427828 rs41299092 A G NON_SYNONYMOUS_CODING GPR112 MODERATE|MISSENSE|Att/Gtt|I655V|3080|GPR112|protein_coding|CODING|ENST00000394143|exon_X_135426551_135432592 . 0/1:99:255,0,243 . . X 139866477 rs41299075 T C NON_SYNONYMOUS_CODING CDR1 MODERATE|MISSENSE|Ata/Gta|I19V|262|CDR1|protein_coding|CODING|ENST00000370532|exon_X_139865425_139866723 . . . 0/1:99:255,0,255 X 140335742 rs202107750 G C NON_SYNONYMOUS_CODING SPANXC MODERATE|MISSENSE|Ctg/Gtg|L68V|97|SPANXC|protein_coding|CODING|ENST00000358993|exon_X_140335596_140335871 . . 0/1:72:69,0,196 . X 140785741 rs144554749 A C NON_SYNONYMOUS_CODING SPANXD MODERATE|MISSENSE|Ttt/Gtt|F59V|97|SPANXD|protein_coding|CODING|ENST00000370515|exon_X_140785568_140785843 . 0/1:53:50,0,255 . . X 140967121 rs12852593 A T NON_SYNONYMOUS_CODING MAGEC3 MODERATE|MISSENSE|gAc/gTc|D140V|643|MAGEC3|protein_coding|CODING|ENST00000298296|exon_X_140966961_140967217 1/1:57:235,30,0 . . . X 140993745 rs74333625 T A NON_SYNONYMOUS_CODING MAGEC1 MODERATE|MISSENSE|agT/agA|S185R|1142|MAGEC1|protein_coding|CODING|ENST00000285879|exon_X_140993195_140997174 . . . 0/1:59:56,0,243 X 140993755 rs74748246 C A NON_SYNONYMOUS_CODING MAGEC1 MODERATE|MISSENSE|Cct/Act|P189T|1142|MAGEC1|protein_coding|CODING|ENST00000285879|exon_X_140993195_140997174 . . . 0/1:62:59,0,255 X 140993905 rs176040 C T NON_SYNONYMOUS_CODING MAGEC1 MODERATE|MISSENSE|Ccc/Tcc|P239S|1142|MAGEC1|protein_coding|CODING|ENST00000285879|exon_X_140993195_140997174 . 0/1:99:97,0,144 0/1:99:133,0,255 . X 140993905 rs176040 C T NON_SYNONYMOUS_CODING MAGEC1 MODERATE|MISSENSE|Ccc/Tcc|P40S|116|MAGEC1|protein_coding|CODING|ENST00000370510|exon_X_140993881_140994138 . 0/1:99:97,0,144 0/1:99:133,0,255 . X 140993905 rs176040 C T NON_SYNONYMOUS_CODING MAGEC1 MODERATE|MISSENSE|Ccc/Tcc|P41S|117|MAGEC1|protein_coding|CODING|ENST00000370511|exon_X_140993893_140994139 . 0/1:99:97,0,144 0/1:99:133,0,255 . X 140994887 rs58318084 A G NON_SYNONYMOUS_CODING MAGEC1 MODERATE|MISSENSE|cAg/cGg|Q566R|1142|MAGEC1|protein_coding|CODING|ENST00000285879|exon_X_140993195_140997174 . . 0/1:99:225,0,254 . X 140995939 rs147852270 C T NON_SYNONYMOUS_CODING MAGEC1 MODERATE|MISSENSE|Cgg/Tgg|R917W|1142|MAGEC1|protein_coding|CODING|ENST00000285879|exon_X_140993195_140997174 . . 0/1:99:183,0,255 . X 144905744 rs2295336 T C NON_SYNONYMOUS_CODING SLITRK2 MODERATE|MISSENSE|Tcg/Ccg|S601P|723|SLITRK2|protein_coding|CODING|ENST00000335565|exon_X_144903901_144906115 1/1:81:254,42,0 . . . X 144905744 rs2295336 T C NON_SYNONYMOUS_CODING SLITRK2 MODERATE|MISSENSE|Tcg/Ccg|S601P|845|SLITRK2|protein_coding|CODING|ENST00000370490|exon_X_144899689_144907360 1/1:81:254,42,0 . . . X 144905744 rs2295336 T C NON_SYNONYMOUS_CODING SLITRK2 MODERATE|MISSENSE|Tcg/Ccg|S601P|845|SLITRK2|protein_coding|CODING|ENST00000413937|exon_X_144903913_144907358 1/1:81:254,42,0 . . . X 144905744 rs2295336 T C NON_SYNONYMOUS_CODING SLITRK2 MODERATE|MISSENSE|Tcg/Ccg|S601P|845|SLITRK2|protein_coding|CODING|ENST00000428560|exon_X_144903901_144907358 1/1:81:254,42,0 . . . X 144905744 rs2295336 T C NON_SYNONYMOUS_CODING SLITRK2 MODERATE|MISSENSE|Tcg/Ccg|S601P|845|SLITRK2|protein_coding|CODING|ENST00000434188|exon_X_144903901_144907358 1/1:81:254,42,0 . . . X 144905744 rs2295336 T C NON_SYNONYMOUS_CODING SLITRK2 MODERATE|MISSENSE|Tcg/Ccg|S601P|845|SLITRK2|protein_coding|CODING|ENST00000447897|exon_X_144901992_144907358 1/1:81:254,42,0 . . . X 144909301 rs3752359 T G NON_SYNONYMOUS_CODING CXorf1 MODERATE|MISSENSE|Tcc/Gcc|S36A|111|CXorf1|protein_coding|CODING|ENST00000408967|exon_X_144908928_144911368 1/1:99:255,54,0 . . . X 152721728 rs41311378 T C NON_SYNONYMOUS_CODING HAUS7 MODERATE|MISSENSE|Acg/Gcg|T105A|136|HAUS7|protein_coding|CODING|ENST00000421080|exon_X_152721723_152721822 . . 0/1:99:124,0,223 . X 152721728 rs41311378 T C NON_SYNONYMOUS_CODING HAUS7 MODERATE|MISSENSE|Acg/Gcg|T234A|358|HAUS7|protein_coding|CODING|ENST00000370211|exon_X_152721723_152721822 . . 0/1:99:124,0,223 . X 152721728 rs41311378 T C NON_SYNONYMOUS_CODING HAUS7 MODERATE|MISSENSE|Acg/Gcg|T244A|368|HAUS7|protein_coding|CODING|ENST00000370219|exon_X_152721723_152721822 . . 0/1:99:124,0,223 . X 152721728 rs41311378 T C NON_SYNONYMOUS_CODING HAUS7 MODERATE|MISSENSE|Acg/Gcg|T244A|427|HAUS7|protein_coding|CODING|ENST00000370212|exon_X_152721723_152721822 . . 0/1:99:124,0,223 . X 153040270 . G A NON_SYNONYMOUS_CODING PLXNB3 MODERATE|MISSENSE|Gga/Aga|G924R|988|PLXNB3|protein_coding|CODING|ENST00000538282|exon_X_153040161_153040558 . 0/1:99:231,0,205 . . X 153041868 rs146832392 T A NON_SYNONYMOUS_CODING PLXNB3 MODERATE|MISSENSE|gTg/gAg|V1249E|1562|PLXNB3|protein_coding|CODING|ENST00000538776|exon_X_153041811_153041914 . 0/1:59:56,0,69 . . X 153041868 rs146832392 T A NON_SYNONYMOUS_CODING PLXNB3 MODERATE|MISSENSE|gTg/gAg|V1596E|1909|PLXNB3|protein_coding|CODING|ENST00000361971|exon_X_153041811_153041914 . 0/1:59:56,0,69 . . X 153041868 rs146832392 T A NON_SYNONYMOUS_CODING PLXNB3 MODERATE|MISSENSE|gTg/gAg|V1619E|1932|PLXNB3|protein_coding|CODING|ENST00000538966|exon_X_153041811_153041914 . 0/1:59:56,0,69 . . X 153170995 rs2071126 G A NON_SYNONYMOUS_CODING AVPR2 MODERATE|MISSENSE|gGg/gAg|G12E|309|AVPR2|protein_coding|CODING|ENST00000370049|exon_X_153170986_153172235 . . . 0/1:99:127,0,147 X 153170995 rs2071126 G A NON_SYNONYMOUS_CODING AVPR2 MODERATE|MISSENSE|gGg/gAg|G12E|371|AVPR2|protein_coding|CODING|ENST00000337474|exon_X_153170986_153171870 . . . 0/1:99:127,0,147 X 153170995 rs2071126 G A NON_SYNONYMOUS_CODING AVPR2 MODERATE|MISSENSE|gGg/gAg|G12E|371|AVPR2|protein_coding|CODING|ENST00000358927|exon_X_153170986_153171870 . . . 0/1:99:127,0,147 X 153170995 rs2071126 G A NON_SYNONYMOUS_CODING AVPR2 MODERATE|MISSENSE|gGg/gAg|G12E|371|AVPR2|protein_coding|CODING|ENST00000430697|exon_X_153170986_153171782 . . . 0/1:99:127,0,147 X 153172059 rs5202 C T NON_SYNONYMOUS_CODING AVPR2 MODERATE|MISSENSE|gCg/gTg|A302V|371|AVPR2|protein_coding|CODING|ENST00000430697|exon_X_153171977_153172270 . . . 0/1:99:173,0,202 X 153418514 rs79866052 G A NON_SYNONYMOUS_CODING OPN1LW MODERATE|MISSENSE|Gtg/Atg|V171M|364|OPN1LW|protein_coding|CODING|ENST00000369951|exon_X_153418413_153418581 . . 1/1:85:255,44,0 . X 153418514 rs79866052 G A NON_SYNONYMOUS_CODING OPN1LW MODERATE|MISSENSE|Gtg/Atg|V34M|164|OPN1LW|protein_coding|CODING|ENST00000442922|exon_X_153418415_153418581 . . 1/1:85:255,44,0 . X 153694334 rs5945430 C G NON_SYNONYMOUS_CODING PLXNA3 MODERATE|MISSENSE|gaC/gaG|D863E|1871|PLXNA3|protein_coding|CODING|ENST00000369682|exon_X_153694278_153694423 . . 0/1:99:185,0,234 . X 153713787 rs7057286 C T NON_SYNONYMOUS_CODING UBL4A MODERATE|MISSENSE|cGt/cAt|R142H|180|UBL4A|protein_coding|CODING|ENST00000369653|exon_X_153713532_153713801 . . 0/1:99:210,0,251 . X 155253889 . A G NON_SYNONYMOUS_CODING WASH6P MODERATE|MISSENSE|Atg/Gtg|M365V|447|WASH6P|protein_coding|CODING|ENST00000285718|exon_X_155253785_155253937 . 0/1:56:53,0,85 . . X 155253889 . A G NON_SYNONYMOUS_CODING WASH6P MODERATE|MISSENSE|Atg/Gtg|M396V|478|WASH6P|protein_coding|CODING|ENST00000359512|exon_X_155253785_155253937 . 0/1:56:53,0,85 . . Y 4968655 rs75134848 T G NON_SYNONYMOUS_CODING PCDH11Y MODERATE|MISSENSE|aaT/aaG|N1001K|1037|PCDH11Y|protein_coding|CODING|ENST00000333703|exon_Y_4966256_4968748 1/1:51:88,27,0 . . . Y 4968655 rs75134848 T G NON_SYNONYMOUS_CODING PCDH11Y MODERATE|MISSENSE|aaT/aaG|N1012K|1048|PCDH11Y|protein_coding|CODING|ENST00000362095|exon_Y_4966256_4968748 1/1:51:88,27,0 . . . Y 4968655 rs75134848 T G NON_SYNONYMOUS_CODING PCDH11Y MODERATE|MISSENSE|aaT/aaG|N1012K|1340|PCDH11Y|protein_coding|CODING|ENST00000215473|exon_Y_4966256_4968748 1/1:51:88,27,0 . . . Y 13496413 rs79087866 T G NON_SYNONYMOUS_CODING AC134882.1 MODERATE|MISSENSE|Aca/Cca|T246P|297|AC134882.1|protein_coding|CODING|ENST00000331172|exon_Y_13496241_13496470 . 1/1:57:57,36,0 . 1/1:32:55,18,0 Y 21751449 rs34289137 C T NON_SYNONYMOUS_CODING CYorf15A.1 MODERATE|MISSENSE|tCg/tTg|S109L|131|CYorf15A.1|protein_coding|CODING|ENST00000407724|exon_Y_21751407_21751498 1/1:87:255,45,0 . . .