Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 8 56864554 56864554 + Missense_Mutation SNP G G A TCGA-FD-A3B8-01A-31D-A20D-08 TCGA-FD-A3B8-10A-01D-A20D-08 g.chr8:56864554G>A c.517G>A c.(517-519)Gac>Aac p.D173N BLCA 8 56866484 56866484 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 g.chr8:56866484G>A c.731G>A c.(730-732)cGg>cAg p.R244Q BLCA 8 56910944 56910944 + Missense_Mutation SNP A A C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 g.chr8:56910944A>C c.1090A>C c.(1090-1092)Att>Ctt p.I364L BLCA 8 56910945 56910945 + Missense_Mutation SNP T T A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 g.chr8:56910945T>A c.1091T>A c.(1090-1092)aTt>aAt p.I364N BLCA 8 56922538 56922538 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 g.chr8:56922538G>C c.1408G>C c.(1408-1410)Gat>Cat p.D470H BRCA 8 56854475 56854475 + Missense_Mutation SNP G G C TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr8:56854475G>C c.57G>C c.(55-57)ttG>ttC p.L19F BRCA 8 56864664 56864664 + Missense_Mutation SNP A A T TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 g.chr8:56864664A>T c.627A>T c.(625-627)aaA>aaT p.K209N BRCA 8 56910950 56910950 + Missense_Mutation SNP C C T TCGA-AC-A2FM-01A-11D-A19Y-09 TCGA-AC-A2FM-11B-32D-A19Y-09 g.chr8:56910950C>T c.1096C>T c.(1096-1098)Cgg>Tgg p.R366W BRCA 8 56912024 56912024 + Missense_Mutation SNP G G A TCGA-E2-A155-01A-11D-A12B-09 TCGA-E2-A155-10A-01D-A12B-09 g.chr8:56912024G>A c.1252G>A c.(1252-1254)Gga>Aga p.G418R BRCA 8 56922572 56922572 + Missense_Mutation SNP A A C TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr8:56922572A>C c.1442A>C c.(1441-1443)aAa>aCa p.K481T BRCA 8 56922638 56922638 + Missense_Mutation SNP C C A TCGA-B6-A0I9-01A-11W-A050-09 TCGA-B6-A0I9-10A-01W-A055-09 g.chr8:56922638C>A c.1508C>A c.(1507-1509)gCc>gAc p.A503D CESC 8 56910991 56910991 + Silent SNP C C G TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 g.chr8:56910991C>G c.1137C>G c.(1135-1137)ctC>ctG p.L379L COAD 8 56863088 56863088 + Missense_Mutation SNP G G T TCGA-DM-A0X9-01A-11D-A152-10 TCGA-DM-A0X9-10A-01D-A152-10 g.chr8:56863088G>T c.355G>T c.(355-357)Gcc>Tcc p.A119S COAD 8 56863089 56863089 + Missense_Mutation SNP C C T TCGA-A6-5657-01A-01D-1650-10 TCGA-A6-5657-10A-01D-1650-10 g.chr8:56863089C>T c.356C>T c.(355-357)gCc>gTc p.A119V COAD 8 56864540 56864540 + Missense_Mutation SNP C C T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr8:56864540C>T c.503C>T c.(502-504)tCt>tTt p.S168F COAD 8 56864542 56864542 + Missense_Mutation SNP G G A TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr8:56864542G>A c.505G>A c.(505-507)Gtc>Atc p.V169I COAD 8 56864653 56864653 + Missense_Mutation SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr8:56864653G>A c.616G>A c.(616-618)Gac>Aac p.D206N COAD 8 56866526 56866526 + Missense_Mutation SNP T T G TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr8:56866526T>G c.773T>G c.(772-774)tTt>tGt p.F258C COAD 8 56879351 56879351 + Missense_Mutation SNP G G A TCGA-D5-5540-01A-01D-1650-10 TCGA-D5-5540-10A-01D-1650-10 g.chr8:56879351G>A c.868G>A c.(868-870)Gaa>Aaa p.E290K COAD 8 56882288 56882288 + Missense_Mutation SNP A A G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr8:56882288A>G c.986A>G c.(985-987)gAt>gGt p.D329G COAD 8 56882307 56882307 + Missense_Mutation SNP A A C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr8:56882307A>C c.1005A>C c.(1003-1005)gaA>gaC p.E335D COAD 8 56910920 56910920 + Missense_Mutation SNP G G A TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr8:56910920G>A c.1066G>A c.(1066-1068)Gca>Aca p.A356T COAD 8 56911009 56911009 + Silent SNP T T C TCGA-A6-6142-01A-11D-1771-10 TCGA-A6-6142-10A-01D-1771-10 g.chr8:56911009T>C c.1155T>C c.(1153-1155)gaT>gaC p.D385D COAD 8 56911009 56911009 + Silent SNP T T C TCGA-D5-6529-01A-11D-1771-10 TCGA-D5-6529-10A-01D-1771-10 g.chr8:56911009T>C c.1155T>C c.(1153-1155)gaT>gaC p.D385D COAD 8 56912001 56912001 + Missense_Mutation SNP C C T TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr8:56912001C>T c.1229C>T c.(1228-1230)aCg>aTg p.T410M COAD 8 56922493 56922493 + Missense_Mutation SNP G G A TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr8:56922493G>A c.1363G>A c.(1363-1365)Gcc>Acc p.A455T COAD 8 56922602 56922602 + Missense_Mutation SNP A A G TCGA-AA-3860-01A-02W-0900-09 TCGA-AA-3860-10A-01W-0902-09 g.chr8:56922602A>G c.1472A>G c.(1471-1473)gAc>gGc p.D491G COADREAD 8 56863088 56863088 + Missense_Mutation SNP G G T TCGA-DM-A0X9-01A-11D-A152-10 TCGA-DM-A0X9-10A-01D-A152-10 g.chr8:56863088G>T c.355G>T c.(355-357)Gcc>Tcc p.A119S COADREAD 8 56863089 56863089 + Missense_Mutation SNP C C T TCGA-A6-5657-01A-01D-1650-10 TCGA-A6-5657-10A-01D-1650-10 g.chr8:56863089C>T c.356C>T c.(355-357)gCc>gTc p.A119V COADREAD 8 56864540 56864540 + Missense_Mutation SNP C C T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr8:56864540C>T c.503C>T c.(502-504)tCt>tTt p.S168F COADREAD 8 56864542 56864542 + Missense_Mutation SNP G G A TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr8:56864542G>A c.505G>A c.(505-507)Gtc>Atc p.V169I COADREAD 8 56864653 56864653 + Missense_Mutation SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr8:56864653G>A c.616G>A c.(616-618)Gac>Aac p.D206N COADREAD 8 56866526 56866526 + Missense_Mutation SNP T T G TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr8:56866526T>G c.773T>G c.(772-774)tTt>tGt p.F258C COADREAD 8 56879351 56879351 + Missense_Mutation SNP G G A TCGA-D5-5540-01A-01D-1650-10 TCGA-D5-5540-10A-01D-1650-10 g.chr8:56879351G>A c.868G>A c.(868-870)Gaa>Aaa p.E290K COADREAD 8 56882288 56882288 + Missense_Mutation SNP A A G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr8:56882288A>G c.986A>G c.(985-987)gAt>gGt p.D329G COADREAD 8 56882307 56882307 + Missense_Mutation SNP A A C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr8:56882307A>C c.1005A>C c.(1003-1005)gaA>gaC p.E335D COADREAD 8 56910920 56910920 + Missense_Mutation SNP G G A TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr8:56910920G>A c.1066G>A c.(1066-1068)Gca>Aca p.A356T COADREAD 8 56911009 56911009 + Silent SNP T T C TCGA-A6-6142-01A-11D-1771-10 TCGA-A6-6142-10A-01D-1771-10 g.chr8:56911009T>C c.1155T>C c.(1153-1155)gaT>gaC p.D385D COADREAD 8 56911009 56911009 + Silent SNP T T C TCGA-D5-6529-01A-11D-1771-10 TCGA-D5-6529-10A-01D-1771-10 g.chr8:56911009T>C c.1155T>C c.(1153-1155)gaT>gaC p.D385D COADREAD 8 56912001 56912001 + Missense_Mutation SNP C C T TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr8:56912001C>T c.1229C>T c.(1228-1230)aCg>aTg p.T410M COADREAD 8 56922493 56922493 + Missense_Mutation SNP G G A TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr8:56922493G>A c.1363G>A c.(1363-1365)Gcc>Acc p.A455T COADREAD 8 56922602 56922602 + Missense_Mutation SNP A A G TCGA-AA-3860-01A-02W-0900-09 TCGA-AA-3860-10A-01W-0902-09 g.chr8:56922602A>G c.1472A>G c.(1471-1473)gAc>gGc p.D491G DLBC 8 56910951 56910951 + Missense_Mutation SNP G G A TCGA-FA-8693-01A-11D-2397-10 TCGA-FA-8693-10A-01D-2397-10 g.chr8:56910951G>A c.1097G>A c.(1096-1098)cGg>cAg p.R366Q DLBC 8 56910951 56910951 + Missense_Mutation SNP G G A TCGA-FF-8061-01A-11D-2210-10 TCGA-FF-8061-10A-01D-2210-10 g.chr8:56910951G>A c.1097G>A c.(1096-1098)cGg>cAg p.R366Q ESCA 8 56864612 56864612 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr8:56864612G>A c.575G>A c.(574-576)gGc>gAc p.G192D ESCA 8 56879419 56879419 + Silent SNP G G A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 g.chr8:56879419G>A c.936G>A c.(934-936)gaG>gaA p.E312E ESCA 8 56912040 56912040 + Missense_Mutation SNP A A C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 g.chr8:56912040A>C c.1268A>C c.(1267-1269)aAg>aCg p.K423T GBM 8 56854426 56854426 + Missense_Mutation SNP G G A TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 g.chr8:56854426G>A c.8G>A c.(7-9)tGt>tAt p.C3Y GBM 8 56863056 56863056 + Missense_Mutation SNP A A G TCGA-28-5220-01A-01D-1486-08 TCGA-28-5220-10A-01D-1486-08 g.chr8:56863056A>G c.323A>G c.(322-324)aAa>aGa p.K108R GBM 8 56866431 56866431 + Silent SNP T T C TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 g.chr8:56866431T>C c.678T>C c.(676-678)tgT>tgC p.C226C GBMLGG 8 56854426 56854426 + Missense_Mutation SNP G G A TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 g.chr8:56854426G>A c.8G>A c.(7-9)tGt>tAt p.C3Y GBMLGG 8 56863056 56863056 + Missense_Mutation SNP A A G TCGA-28-5220-01A-01D-1486-08 TCGA-28-5220-10A-01D-1486-08 g.chr8:56863056A>G c.323A>G c.(322-324)aAa>aGa p.K108R GBMLGG 8 56866431 56866431 + Silent SNP T T C TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 g.chr8:56866431T>C c.678T>C c.(676-678)tgT>tgC p.C226C HNSC 8 56860268 56860268 + Missense_Mutation SNP G G A TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 g.chr8:56860268G>A c.270G>A c.(268-270)atG>atA p.M90I HNSC 8 56863054 56863054 + Frame_Shift_Del DEL A A - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr8:56863054delA c.321delA c.(319-321)acafs p.T107fs HNSC 8 56864535 56864538 + Frame_Shift_Del DEL TCTG TCTG - TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 g.chr8:56864535_56864538delTCTG c.498_501delTCTG c.(496-501)tctctgfs p.SL166fs HNSC 8 56864548 56864548 + Missense_Mutation SNP G G C TCGA-UF-A7JS-01A-11D-A34J-08 TCGA-UF-A7JS-10A-01D-A34M-08 g.chr8:56864548G>C c.511G>C c.(511-513)Gac>Cac p.D171H HNSC 8 56866481 56866481 + Missense_Mutation SNP C C A TCGA-UF-A71D-01A-12D-A34J-08 TCGA-UF-A71D-10B-01D-A34M-08 g.chr8:56866481C>A c.728C>A c.(727-729)cCc>cAc p.P243H HNSC 8 56879311 56879311 + Silent SNP C C T TCGA-CV-A468-01A-11D-A25Y-08 TCGA-CV-A468-10A-01D-A25Y-08 g.chr8:56879311C>T c.828C>T c.(826-828)acC>acT p.T276T HNSC 8 56879420 56879420 + Nonsense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 g.chr8:56879420G>T c.937G>T c.(937-939)Gag>Tag p.E313* HNSC 8 56912010 56912010 + Missense_Mutation SNP A A G TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 g.chr8:56912010A>G c.1238A>G c.(1237-1239)gAa>gGa p.E413G HNSC 8 56912075 56912075 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr8:56912075G>A c.1303G>A c.(1303-1305)Gaa>Aaa p.E435K KIPAN 8 56922610 56922610 + Missense_Mutation SNP C C A TCGA-GL-8500-01A-11D-2396-08 TCGA-GL-8500-10A-01D-2396-08 g.chr8:56922610C>A c.1480C>A c.(1480-1482)Cag>Aag p.Q494K KIPAN 8 56922657 56922657 + Missense_Mutation SNP G G C TCGA-4A-A93W-01A-11D-A36X-10 TCGA-4A-A93W-10A-01D-A370-10 g.chr8:56922657G>C c.1527G>C c.(1525-1527)caG>caC p.Q509H KIPAN 8 56922659 56922659 + Missense_Mutation SNP A A T TCGA-4A-A93W-01A-11D-A36X-10 TCGA-4A-A93W-10A-01D-A370-10 g.chr8:56922659A>T c.1529A>T c.(1528-1530)cAg>cTg p.Q510L KIRP 8 56922610 56922610 + Missense_Mutation SNP C C A TCGA-GL-8500-01A-11D-2396-08 TCGA-GL-8500-10A-01D-2396-08 g.chr8:56922610C>A c.1480C>A c.(1480-1482)Cag>Aag p.Q494K KIRP 8 56922657 56922657 + Missense_Mutation SNP G G C TCGA-4A-A93W-01A-11D-A36X-10 TCGA-4A-A93W-10A-01D-A370-10 g.chr8:56922657G>C c.1527G>C c.(1525-1527)caG>caC p.Q509H KIRP 8 56922659 56922659 + Missense_Mutation SNP A A T TCGA-4A-A93W-01A-11D-A36X-10 TCGA-4A-A93W-10A-01D-A370-10 g.chr8:56922659A>T c.1529A>T c.(1528-1530)cAg>cTg p.Q510L LIHC 8 56866505 56866505 + Missense_Mutation SNP A A G TCGA-ZP-A9CY-01A-11D-A382-10 TCGA-ZP-A9CY-10B-01D-A385-10 g.chr8:56866505A>G c.752A>G c.(751-753)aAa>aGa p.K251R LUAD 8 56866463 56866463 + Missense_Mutation SNP A A T TCGA-86-8668-01A-11D-2393-08 TCGA-86-8668-10A-01D-2393-08 g.chr8:56866463A>T c.710A>T c.(709-711)aAa>aTa p.K237I LUAD 8 56866543 56866543 + Splice_Site SNP G G A TCGA-05-4382-01A-01D-1931-08 TCGA-05-4382-10A-01D-1265-08 g.chr8:56866543G>A c.790G>A c.(790-792)Ggt>Agt p.G264S LUAD 8 56879313 56879313 + Missense_Mutation SNP T T C TCGA-35-4122-01A-01D-1105-08 TCGA-35-4122-10A-01D-1105-08 g.chr8:56879313T>C c.830T>C c.(829-831)cTg>cCg p.L277P LUAD 8 56910924 56910924 + Missense_Mutation SNP A A G TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 g.chr8:56910924A>G c.1070A>G c.(1069-1071)tAc>tGc p.Y357C LUAD 8 56911984 56911984 + Missense_Mutation SNP G G C TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 g.chr8:56911984G>C c.1212G>C c.(1210-1212)aaG>aaC p.K404N LUSC 8 56866519 56866519 + Missense_Mutation SNP G G C TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 g.chr8:56866519G>C c.766G>C c.(766-768)Ggg>Cgg p.G256R LUSC 8 56879273 56879273 + Splice_Site SNP G G T TCGA-66-2754-01A-01D-0983-08 TCGA-66-2754-11A-01D-0983-08 g.chr8:56879273G>T c.e9-1 OV 8 56866545 56866545 + Splice_Site SNP T T G TCGA-36-2543-01A-01D-1526-09 TCGA-36-2543-10A-01D-1526-09 g.chr8:56866545T>G c.e8+2 OV 8 56879390 56879390 + Missense_Mutation SNP G G C TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 g.chr8:56879390G>C c.907G>C c.(907-909)Gtg>Ctg p.V303L PAAD 8 56863054 56863054 + Frame_Shift_Del DEL A A - TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 g.chr8:56863054delA c.321delA c.(319-321)acafs p.T107fs PRAD 8 56860229 56860229 + Silent SNP C C A TCGA-EJ-A6RA-01A-11D-A33T-08 TCGA-EJ-A6RA-10A-01D-A33W-08 g.chr8:56860229C>A c.231C>A c.(229-231)atC>atA p.I77I PRAD 8 56863270 56863270 + Silent SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr8:56863270C>T c.414C>T c.(412-414)gaC>gaT p.D138D PRAD 8 56864542 56864542 + Missense_Mutation SNP G G A TCGA-J4-AAU2-01A-11D-A41K-08 TCGA-J4-AAU2-10A-01D-A41N-08 g.chr8:56864542G>A c.505G>A c.(505-507)Gtc>Atc p.V169I PRAD 8 56866508 56866508 + Missense_Mutation SNP G G A TCGA-V1-A9O7-01A-21D-A41K-08 TCGA-V1-A9O7-10A-01D-A41N-08 g.chr8:56866508G>A c.755G>A c.(754-756)aGg>aAg p.R252K SARC 8 56912075 56912075 + Missense_Mutation SNP G G A TCGA-PC-A5DO-01A-11D-A26G-09 TCGA-PC-A5DO-10A-01D-A26G-09 g.chr8:56912075G>A c.1303G>A c.(1303-1305)Gaa>Aaa p.E435K SARC 8 56922483 56922483 + Silent SNP C C T TCGA-DX-A8BH-01A-11D-A37C-09 TCGA-DX-A8BH-11A-43D-A37F-09 g.chr8:56922483C>T c.1353C>T c.(1351-1353)gaC>gaT p.D451D SKCM 8 56860176 56860176 + Splice_Site SNP G G A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 g.chr8:56860176G>A c.e4-1 SKCM 8 56863018 56863018 + Splice_Site SNP G G T TCGA-ER-A19E-06A-11D-A197-08 TCGA-ER-A19E-10A-01D-A199-08 g.chr8:56863018G>T c.285G>T c.(283-285)gaG>gaT p.E95D SKCM 8 56863053 56863053 + Missense_Mutation SNP C C A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 g.chr8:56863053C>A c.320C>A c.(319-321)aCa>aAa p.T107K SKCM 8 56863069 56863069 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr8:56863069C>T c.336C>T c.(334-336)ttC>ttT p.F112F SKCM 8 56863296 56863296 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 g.chr8:56863296G>A c.440G>A c.(439-441)gGa>gAa p.G147E SKCM 8 56864630 56864630 + Missense_Mutation SNP G G A TCGA-EE-A3JB-06A-11D-A21A-08 TCGA-EE-A3JB-10A-01D-A21A-08 g.chr8:56864630G>A c.593G>A c.(592-594)cGa>cAa p.R198Q SKCM 8 56864641 56864641 + Missense_Mutation SNP C C T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr8:56864641C>T c.604C>T c.(604-606)Ccc>Tcc p.P202S SKCM 8 56864660 56864660 + Missense_Mutation SNP T T A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr8:56864660T>A c.623T>A c.(622-624)aTt>aAt p.I208N SKCM 8 56866538 56866538 + Nonsense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 g.chr8:56866538G>A c.785G>A c.(784-786)tGg>tAg p.W262* SKCM 8 56879362 56879362 + Silent SNP C C T TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr8:56879362C>T c.879C>T c.(877-879)ctC>ctT p.L293L SKCM 8 56879416 56879416 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 g.chr8:56879416G>A c.933G>A c.(931-933)agG>agA p.R311R SKCM 8 56882295 56882295 + Silent SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr8:56882295G>A c.993G>A c.(991-993)ctG>ctA p.L331L SKCM 8 56910937 56910937 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr8:56910937G>A c.1083G>A c.(1081-1083)aaG>aaA p.K361K SKCM 8 56911988 56911988 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 g.chr8:56911988C>T c.1216C>T c.(1216-1218)Cct>Tct p.P406S SKCM 8 56912056 56912056 + Silent SNP C C T TCGA-D3-A2JC-06A-11D-A19A-08 TCGA-D3-A2JC-10A-01D-A19A-08 g.chr8:56912056C>T c.1284C>T c.(1282-1284)tcC>tcT p.S428S SKCM 8 56912099 56912099 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr8:56912099C>T c.1327C>T c.(1327-1329)Ccc>Tcc p.P443S SKCM 8 56922570 56922570 + Nonsense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr8:56922570G>A c.1440G>A c.(1438-1440)tgG>tgA p.W480*

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 8 56864634 56864634 single base substitution C T downstream_gene_variant BLCA-CN 8 56864634 56864634 single base substitution C T synonymous_variant I178I 534C>T BLCA-CN 8 56864634 56864634 single base substitution C T synonymous_variant I199I 597C>T BLCA-CN 8 56864634 56864634 single base substitution C T upstream_gene_variant BLCA-US 8 56866484 56866484 single base substitution G A downstream_gene_variant BLCA-US 8 56866484 56866484 single base substitution G A missense_variant R223Q 668G>A BLCA-US 8 56866484 56866484 single base substitution G A missense_variant R244Q 731G>A BLCA-US 8 56866484 56866484 single base substitution G A upstream_gene_variant BLCA-US 8 56922538 56922538 single base substitution G C missense_variant D449H 1345G>C BLCA-US 8 56922538 56922538 single base substitution G C missense_variant D470H 1408G>C BOCA-FR 8 56835398 56835398 single base substitution A T intron_variant BOCA-FR 8 56907042 56907042 single base substitution C T intron_variant BOCA-FR 8 56920950 56920950 single base substitution G A intron_variant BRCA-EU 8 56788160 56788160 single base substitution C T upstream_gene_variant BRCA-EU 8 56788224 56788224 single base substitution G C upstream_gene_variant BRCA-EU 8 56788395 56788395 single base substitution T A upstream_gene_variant BRCA-EU 8 56789255 56789255 single base substitution G T upstream_gene_variant BRCA-EU 8 56789316 56789316 single base substitution A T upstream_gene_variant BRCA-EU 8 56789709 56789709 single base substitution T A upstream_gene_variant BRCA-EU 8 56790631 56790631 single base substitution T G upstream_gene_variant BRCA-EU 8 56790974 56790974 single base substitution G T upstream_gene_variant BRCA-EU 8 56791494 56791494 single base substitution C T upstream_gene_variant BRCA-EU 8 56792351 56792351 single base substitution C T upstream_gene_variant BRCA-EU 8 56793315 56793315 single base substitution G A intron_variant BRCA-EU 8 56793327 56793327 single base substitution G T intron_variant BRCA-EU 8 56793810 56793810 single base substitution C T intron_variant BRCA-EU 8 56794068 56794068 single base substitution T C intron_variant BRCA-EU 8 56795602 56795602 single base substitution C A intron_variant BRCA-EU 8 56796025 56796025 single base substitution T C intron_variant BRCA-EU 8 56796436 56796436 single base substitution C T intron_variant BRCA-EU 8 56798915 56798915 single base substitution C A intron_variant BRCA-EU 8 56800389 56800389 single base substitution G A intron_variant BRCA-EU 8 56801068 56801068 single base substitution C T intron_variant BRCA-EU 8 56801376 56801376 single base substitution A C intron_variant BRCA-EU 8 56801696 56801696 single base substitution T A intron_variant BRCA-EU 8 56802345 56802345 single base substitution C A intron_variant BRCA-EU 8 56802822 56802822 single base substitution G T intron_variant BRCA-EU 8 56803321 56803321 single base substitution C G intron_variant BRCA-EU 8 56803404 56803404 single base substitution A G intron_variant BRCA-EU 8 56804730 56804730 single base substitution C T intron_variant BRCA-EU 8 56804748 56804748 single base substitution G C intron_variant BRCA-EU 8 56805414 56805414 single base substitution C T intron_variant BRCA-EU 8 56807180 56807180 single base substitution C T intron_variant BRCA-EU 8 56807520 56807520 single base substitution G A intron_variant BRCA-EU 8 56807885 56807885 single base substitution A G intron_variant BRCA-EU 8 56808663 56808663 single base substitution A T intron_variant BRCA-EU 8 56808664 56808664 single base substitution A T intron_variant BRCA-EU 8 56808762 56808762 single base substitution G T intron_variant BRCA-EU 8 56811397 56811397 deletion of <=200bp T - intron_variant BRCA-EU 8 56811460 56811460 single base substitution G A intron_variant BRCA-EU 8 56812034 56812034 single base substitution C T intron_variant BRCA-EU 8 56813711 56813711 deletion of <=200bp T - intron_variant BRCA-EU 8 56813805 56813805 single base substitution T G intron_variant BRCA-EU 8 56815647 56815647 single base substitution C A intron_variant BRCA-EU 8 56816666 56816666 single base substitution A G intron_variant BRCA-EU 8 56816863 56816863 single base substitution G T intron_variant BRCA-EU 8 56818930 56818930 single base substitution G C intron_variant BRCA-EU 8 56819377 56819377 single base substitution T A intron_variant BRCA-EU 8 56819517 56819517 single base substitution C G intron_variant BRCA-EU 8 56820118 56820118 deletion of <=200bp T - intron_variant BRCA-EU 8 56820118 56820118 insertion of <=200bp - T intron_variant BRCA-EU 8 56821827 56821827 single base substitution C A intron_variant BRCA-EU 8 56822486 56822486 single base substitution G T intron_variant BRCA-EU 8 56822554 56822554 single base substitution T C intron_variant BRCA-EU 8 56824371 56824371 single base substitution C T intron_variant BRCA-EU 8 56824645 56824645 single base substitution G A intron_variant BRCA-EU 8 56825923 56825923 single base substitution C T intron_variant BRCA-EU 8 56825942 56825942 single base substitution C T intron_variant BRCA-EU 8 56826405 56826405 single base substitution G A intron_variant BRCA-EU 8 56826659 56826660 deletion of <=200bp GT - intron_variant BRCA-EU 8 56827045 56827045 single base substitution C T intron_variant BRCA-EU 8 56827674 56827674 single base substitution T C intron_variant BRCA-EU 8 56829471 56829471 single base substitution C T intron_variant BRCA-EU 8 56829701 56829701 single base substitution C T intron_variant BRCA-EU 8 56830548 56830548 single base substitution G A intron_variant BRCA-EU 8 56830587 56830587 single base substitution G T intron_variant BRCA-EU 8 56831371 56831371 single base substitution G A intron_variant BRCA-EU 8 56831524 56831524 single base substitution G T intron_variant BRCA-EU 8 56832043 56832043 single base substitution G C intron_variant BRCA-EU 8 56832376 56832376 single base substitution G C intron_variant BRCA-EU 8 56832969 56832969 single base substitution C G intron_variant BRCA-EU 8 56833237 56833237 single base substitution A T intron_variant BRCA-EU 8 56835199 56835199 single base substitution G A intron_variant BRCA-EU 8 56835449 56835449 single base substitution A C intron_variant BRCA-EU 8 56835682 56835682 deletion of <=200bp A - intron_variant BRCA-EU 8 56836450 56836450 single base substitution A G intron_variant BRCA-EU 8 56836679 56836679 single base substitution G A intron_variant BRCA-EU 8 56836903 56836903 single base substitution C T intron_variant BRCA-EU 8 56837877 56837877 single base substitution T C intron_variant BRCA-EU 8 56839432 56839432 insertion of <=200bp - T intron_variant BRCA-EU 8 56840997 56840997 single base substitution G A intron_variant BRCA-EU 8 56841860 56841860 single base substitution T A intron_variant BRCA-EU 8 56842763 56842763 single base substitution C G intron_variant BRCA-EU 8 56843260 56843260 single base substitution G C intron_variant BRCA-EU 8 56844309 56844309 single base substitution C G intron_variant BRCA-EU 8 56846784 56846784 deletion of <=200bp A - intron_variant BRCA-EU 8 56847093 56847093 single base substitution C T intron_variant BRCA-EU 8 56847987 56847987 single base substitution T C intron_variant BRCA-EU 8 56847987 56847987 single base substitution T C upstream_gene_variant BRCA-EU 8 56848337 56848337 single base substitution C A intron_variant BRCA-EU 8 56848337 56848337 single base substitution C A upstream_gene_variant BRCA-EU 8 56848806 56848806 single base substitution T C intron_variant BRCA-EU 8 56848806 56848806 single base substitution T C upstream_gene_variant BRCA-EU 8 56849556 56849556 single base substitution G C intron_variant BRCA-EU 8 56849556 56849556 single base substitution G C upstream_gene_variant BRCA-EU 8 56849595 56849595 single base substitution G A intron_variant BRCA-EU 8 56849595 56849595 single base substitution G A upstream_gene_variant BRCA-EU 8 56850466 56850466 single base substitution G T intron_variant BRCA-EU 8 56850466 56850466 single base substitution G T upstream_gene_variant BRCA-EU 8 56850494 56850494 single base substitution G T intron_variant BRCA-EU 8 56850494 56850494 single base substitution G T upstream_gene_variant BRCA-EU 8 56850650 56850650 single base substitution C T intron_variant BRCA-EU 8 56850650 56850650 single base substitution C T upstream_gene_variant BRCA-EU 8 56850747 56850747 single base substitution G C intron_variant BRCA-EU 8 56850747 56850747 single base substitution G C upstream_gene_variant BRCA-EU 8 56850821 56850821 single base substitution T C intron_variant BRCA-EU 8 56850821 56850821 single base substitution T C upstream_gene_variant BRCA-EU 8 56850873 56850873 single base substitution C G intron_variant BRCA-EU 8 56850873 56850873 single base substitution C G upstream_gene_variant BRCA-EU 8 56852947 56852947 single base substitution A T intron_variant BRCA-EU 8 56853329 56853329 single base substitution G A intron_variant BRCA-EU 8 56853789 56853789 insertion of <=200bp - A intron_variant BRCA-EU 8 56854588 56854588 single base substitution G C intron_variant BRCA-EU 8 56854639 56854639 deletion of <=200bp A - intron_variant BRCA-EU 8 56855746 56855746 single base substitution C A intron_variant BRCA-EU 8 56857282 56857282 single base substitution C T intron_variant BRCA-EU 8 56857381 56857381 single base substitution C G intron_variant BRCA-EU 8 56857485 56857485 single base substitution C A intron_variant BRCA-EU 8 56857485 56857485 single base substitution C T intron_variant BRCA-EU 8 56858617 56858617 single base substitution C A intron_variant BRCA-EU 8 56858977 56858977 deletion of <=200bp T - intron_variant BRCA-EU 8 56859135 56859135 insertion of <=200bp - T intron_variant BRCA-EU 8 56859461 56859461 single base substitution T C intron_variant BRCA-EU 8 56859681 56859681 single base substitution G A intron_variant BRCA-EU 8 56859917 56859917 single base substitution G A intron_variant BRCA-EU 8 56861953 56861953 single base substitution T G intron_variant BRCA-EU 8 56862259 56862259 single base substitution G A intron_variant BRCA-EU 8 56862998 56862998 single base substitution G C intron_variant BRCA-EU 8 56862998 56862998 single base substitution G C upstream_gene_variant BRCA-EU 8 56863289 56863289 single base substitution G C missense_variant A124P 370G>C BRCA-EU 8 56863289 56863289 single base substitution G C missense_variant A145P 433G>C BRCA-EU 8 56863289 56863289 single base substitution G C upstream_gene_variant BRCA-EU 8 56863583 56863583 single base substitution C T downstream_gene_variant BRCA-EU 8 56863583 56863583 single base substitution C T intron_variant BRCA-EU 8 56863583 56863583 single base substitution C T upstream_gene_variant BRCA-EU 8 56865050 56865050 single base substitution C T downstream_gene_variant BRCA-EU 8 56865050 56865050 single base substitution C T intron_variant BRCA-EU 8 56865050 56865050 single base substitution C T upstream_gene_variant BRCA-EU 8 56865186 56865186 single base substitution C T downstream_gene_variant BRCA-EU 8 56865186 56865186 single base substitution C T intron_variant BRCA-EU 8 56865186 56865186 single base substitution C T upstream_gene_variant BRCA-EU 8 56865487 56865487 single base substitution C G downstream_gene_variant BRCA-EU 8 56865487 56865487 single base substitution C G intron_variant BRCA-EU 8 56865487 56865487 single base substitution C G upstream_gene_variant BRCA-EU 8 56866292 56866292 single base substitution G A downstream_gene_variant BRCA-EU 8 56866292 56866292 single base substitution G A intron_variant BRCA-EU 8 56866292 56866292 single base substitution G A upstream_gene_variant BRCA-EU 8 56866937 56866937 single base substitution A G downstream_gene_variant BRCA-EU 8 56866937 56866937 single base substitution A G intron_variant BRCA-EU 8 56866937 56866937 single base substitution A G upstream_gene_variant BRCA-EU 8 56867645 56867645 single base substitution T C downstream_gene_variant BRCA-EU 8 56867645 56867645 single base substitution T C intron_variant BRCA-EU 8 56867645 56867645 single base substitution T C upstream_gene_variant BRCA-EU 8 56869402 56869402 single base substitution C G intron_variant BRCA-EU 8 56870524 56870524 single base substitution T A intron_variant BRCA-EU 8 56870784 56870784 single base substitution G C intron_variant BRCA-EU 8 56871334 56871334 single base substitution G A intron_variant BRCA-EU 8 56871643 56871643 single base substitution A T intron_variant BRCA-EU 8 56871698 56871698 deletion of <=200bp T - intron_variant BRCA-EU 8 56872630 56872630 single base substitution C A intron_variant BRCA-EU 8 56872696 56872696 single base substitution T C intron_variant BRCA-EU 8 56873116 56873116 single base substitution A G intron_variant BRCA-EU 8 56874428 56874428 single base substitution C G intron_variant BRCA-EU 8 56875033 56875033 single base substitution G A intron_variant BRCA-EU 8 56875224 56875224 single base substitution T G intron_variant BRCA-EU 8 56875408 56875408 single base substitution A G intron_variant BRCA-EU 8 56875492 56875492 single base substitution G T intron_variant BRCA-EU 8 56875547 56875547 single base substitution C G intron_variant BRCA-EU 8 56875807 56875807 single base substitution G C intron_variant BRCA-EU 8 56876560 56876560 single base substitution G T intron_variant BRCA-EU 8 56876707 56876707 deletion of <=200bp T - intron_variant BRCA-EU 8 56877490 56877490 single base substitution C G intron_variant BRCA-EU 8 56877783 56877783 single base substitution A G intron_variant BRCA-EU 8 56878150 56878150 single base substitution G A intron_variant BRCA-EU 8 56878346 56878346 insertion of <=200bp - T intron_variant BRCA-EU 8 56878423 56878423 single base substitution C A intron_variant BRCA-EU 8 56878513 56878513 single base substitution G A intron_variant BRCA-EU 8 56878516 56878516 single base substitution T A intron_variant BRCA-EU 8 56879248 56879248 single base substitution A T intron_variant BRCA-EU 8 56879377 56879377 single base substitution G C exon_variant BRCA-EU 8 56879377 56879377 single base substitution G C missense_variant Q277H 831G>C BRCA-EU 8 56879377 56879377 single base substitution G C missense_variant Q298H 894G>C BRCA-EU 8 56879783 56879783 single base substitution C G intron_variant BRCA-EU 8 56880702 56880702 single base substitution C T intron_variant BRCA-EU 8 56881671 56881671 single base substitution C G intron_variant BRCA-EU 8 56882868 56882868 single base substitution C G intron_variant BRCA-EU 8 56884838 56884838 single base substitution C T intron_variant BRCA-EU 8 56884918 56884918 single base substitution C T intron_variant BRCA-EU 8 56885949 56885949 single base substitution T A intron_variant BRCA-EU 8 56885950 56885950 single base substitution C A intron_variant BRCA-EU 8 56886188 56886188 single base substitution A G intron_variant BRCA-EU 8 56888991 56888991 single base substitution G T intron_variant BRCA-EU 8 56889487 56889487 single base substitution T C intron_variant BRCA-EU 8 56889531 56889531 single base substitution G T intron_variant BRCA-EU 8 56890649 56890649 single base substitution C A intron_variant BRCA-EU 8 56890884 56890884 single base substitution C T intron_variant BRCA-EU 8 56890921 56890921 single base substitution G C intron_variant BRCA-EU 8 56892034 56892034 single base substitution C T intron_variant BRCA-EU 8 56892782 56892782 deletion of <=200bp T - intron_variant BRCA-EU 8 56892782 56892782 insertion of <=200bp - T intron_variant BRCA-EU 8 56893537 56893537 single base substitution G A intron_variant BRCA-EU 8 56894085 56894085 deletion of <=200bp T - intron_variant BRCA-EU 8 56894085 56894085 single base substitution T A intron_variant BRCA-EU 8 56894878 56894878 single base substitution A G intron_variant BRCA-EU 8 56895498 56895498 single base substitution G A intron_variant BRCA-EU 8 56895566 56895566 single base substitution C T intron_variant BRCA-EU 8 56896529 56896529 single base substitution T C intron_variant BRCA-EU 8 56896641 56896641 single base substitution C T intron_variant BRCA-EU 8 56897110 56897110 single base substitution G C intron_variant BRCA-EU 8 56897433 56897433 single base substitution T C intron_variant BRCA-EU 8 56897931 56897931 single base substitution G A intron_variant BRCA-EU 8 56898754 56898754 deletion of <=200bp A - intron_variant BRCA-EU 8 56898754 56898754 insertion of <=200bp - A intron_variant BRCA-EU 8 56899116 56899116 single base substitution C T intron_variant BRCA-EU 8 56899233 56899233 single base substitution G C intron_variant BRCA-EU 8 56899733 56899733 single base substitution A G intron_variant BRCA-EU 8 56900819 56900819 single base substitution G C intron_variant BRCA-EU 8 56901017 56901017 single base substitution T A intron_variant BRCA-EU 8 56901631 56901631 single base substitution C T intron_variant BRCA-EU 8 56902863 56902863 single base substitution G A intron_variant BRCA-EU 8 56904356 56904356 single base substitution T A intron_variant BRCA-EU 8 56904647 56904647 single base substitution G T intron_variant BRCA-EU 8 56905044 56905044 single base substitution C G intron_variant BRCA-EU 8 56905665 56905665 single base substitution A T intron_variant BRCA-EU 8 56906274 56906274 single base substitution T C intron_variant BRCA-EU 8 56906374 56906374 single base substitution A G intron_variant BRCA-EU 8 56907469 56907469 single base substitution C T intron_variant BRCA-EU 8 56907729 56907729 single base substitution C A intron_variant BRCA-EU 8 56908435 56908435 single base substitution G C intron_variant BRCA-EU 8 56910445 56910445 single base substitution C T intron_variant BRCA-EU 8 56910628 56910628 single base substitution G C intron_variant BRCA-EU 8 56911548 56911548 single base substitution C A downstream_gene_variant BRCA-EU 8 56911548 56911548 single base substitution C A intron_variant BRCA-EU 8 56914092 56914092 single base substitution C T downstream_gene_variant BRCA-EU 8 56914092 56914092 single base substitution C T intron_variant BRCA-EU 8 56914954 56914954 single base substitution G T downstream_gene_variant BRCA-EU 8 56914954 56914954 single base substitution G T intron_variant BRCA-EU 8 56915980 56915980 single base substitution C G downstream_gene_variant BRCA-EU 8 56915980 56915980 single base substitution C G intron_variant BRCA-EU 8 56916761 56916761 single base substitution G C intron_variant BRCA-EU 8 56916981 56916981 single base substitution T C intron_variant BRCA-EU 8 56917479 56917479 single base substitution G A intron_variant BRCA-EU 8 56918185 56918185 single base substitution G C intron_variant BRCA-EU 8 56919627 56919627 deletion of <=200bp A - intron_variant BRCA-EU 8 56920233 56920233 single base substitution C T intron_variant BRCA-EU 8 56920769 56920769 single base substitution G T intron_variant BRCA-EU 8 56921040 56921040 single base substitution G C intron_variant BRCA-EU 8 56921898 56921898 single base substitution C G intron_variant BRCA-EU 8 56923425 56923425 single base substitution C T 3_prime_UTR_variant BRCA-EU 8 56923425 56923425 single base substitution C T downstream_gene_variant BRCA-EU 8 56924014 56924014 single base substitution G T downstream_gene_variant BRCA-EU 8 56924507 56924507 single base substitution A T downstream_gene_variant BRCA-EU 8 56924740 56924740 single base substitution T A downstream_gene_variant BRCA-EU 8 56925222 56925222 single base substitution G A downstream_gene_variant BRCA-EU 8 56926073 56926073 single base substitution G A downstream_gene_variant BRCA-EU 8 56926797 56926797 single base substitution C A downstream_gene_variant BRCA-EU 8 56927158 56927158 single base substitution G T downstream_gene_variant BRCA-EU 8 56927178 56927178 single base substitution T C downstream_gene_variant BRCA-EU 8 56928448 56928448 single base substitution A T downstream_gene_variant BRCA-EU 8 56928595 56928595 single base substitution C T downstream_gene_variant BRCA-EU 8 56928696 56928696 single base substitution C T downstream_gene_variant BRCA-FR 8 56788224 56788224 single base substitution G C upstream_gene_variant BRCA-FR 8 56801068 56801068 single base substitution C T intron_variant BRCA-FR 8 56802345 56802345 single base substitution C A intron_variant BRCA-FR 8 56803321 56803321 single base substitution C G intron_variant BRCA-FR 8 56807180 56807180 single base substitution C T intron_variant BRCA-FR 8 56832136 56832136 single base substitution C G intron_variant BRCA-FR 8 56832376 56832376 single base substitution G C intron_variant BRCA-FR 8 56836652 56836652 single base substitution G A intron_variant BRCA-FR 8 56836679 56836679 single base substitution G A intron_variant BRCA-FR 8 56838022 56838022 single base substitution G A intron_variant BRCA-FR 8 56843260 56843260 single base substitution G C intron_variant BRCA-FR 8 56847968 56847968 single base substitution T C intron_variant BRCA-FR 8 56847968 56847968 single base substitution T C upstream_gene_variant BRCA-FR 8 56848021 56848021 single base substitution C T intron_variant BRCA-FR 8 56848021 56848021 single base substitution C T upstream_gene_variant BRCA-FR 8 56849595 56849595 single base substitution G A intron_variant BRCA-FR 8 56849595 56849595 single base substitution G A upstream_gene_variant BRCA-FR 8 56850747 56850747 single base substitution G C intron_variant BRCA-FR 8 56850747 56850747 single base substitution G C upstream_gene_variant BRCA-FR 8 56850873 56850873 single base substitution C G intron_variant BRCA-FR 8 56850873 56850873 single base substitution C G upstream_gene_variant BRCA-FR 8 56853329 56853329 single base substitution G A intron_variant BRCA-FR 8 56857282 56857282 single base substitution C T intron_variant BRCA-FR 8 56857381 56857381 single base substitution C G intron_variant BRCA-FR 8 56858617 56858617 single base substitution C A intron_variant BRCA-FR 8 56859363 56859363 single base substitution A G intron_variant BRCA-FR 8 56861109 56861109 single base substitution T C intron_variant BRCA-FR 8 56863289 56863289 single base substitution G C missense_variant A124P 370G>C BRCA-FR 8 56863289 56863289 single base substitution G C missense_variant A145P 433G>C BRCA-FR 8 56863289 56863289 single base substitution G C upstream_gene_variant BRCA-FR 8 56864488 56864488 single base substitution G A downstream_gene_variant BRCA-FR 8 56864488 56864488 single base substitution G A intron_variant BRCA-FR 8 56864488 56864488 single base substitution G A upstream_gene_variant BRCA-FR 8 56875224 56875224 single base substitution T G intron_variant BRCA-FR 8 56875547 56875547 single base substitution C G intron_variant BRCA-FR 8 56879377 56879377 single base substitution G C exon_variant BRCA-FR 8 56879377 56879377 single base substitution G C missense_variant Q277H 831G>C BRCA-FR 8 56879377 56879377 single base substitution G C missense_variant Q298H 894G>C BRCA-FR 8 56880702 56880702 single base substitution C T intron_variant BRCA-FR 8 56885605 56885605 single base substitution T G intron_variant BRCA-FR 8 56889709 56889709 single base substitution A T intron_variant BRCA-FR 8 56890921 56890921 single base substitution G C intron_variant BRCA-FR 8 56895811 56895811 single base substitution C A intron_variant BRCA-FR 8 56897931 56897931 single base substitution G A intron_variant BRCA-FR 8 56898858 56898858 single base substitution T A intron_variant BRCA-FR 8 56899233 56899233 single base substitution G C intron_variant BRCA-FR 8 56900718 56900718 single base substitution T C intron_variant BRCA-FR 8 56902863 56902863 single base substitution G A intron_variant BRCA-FR 8 56904759 56904759 single base substitution G A intron_variant BRCA-FR 8 56906374 56906374 single base substitution A G intron_variant BRCA-FR 8 56907411 56907411 single base substitution A G intron_variant BRCA-FR 8 56910628 56910628 single base substitution G C intron_variant BRCA-FR 8 56911319 56911319 single base substitution A G downstream_gene_variant BRCA-FR 8 56911319 56911319 single base substitution A G intron_variant BRCA-FR 8 56913532 56913532 single base substitution C G downstream_gene_variant BRCA-FR 8 56913532 56913532 single base substitution C G intron_variant BRCA-FR 8 56916981 56916981 single base substitution T C intron_variant BRCA-FR 8 56921898 56921898 single base substitution C G intron_variant BRCA-FR 8 56924764 56924764 single base substitution C T downstream_gene_variant BRCA-FR 8 56925222 56925222 single base substitution G A downstream_gene_variant BRCA-FR 8 56927484 56927484 single base substitution A T downstream_gene_variant BRCA-FR 8 56927611 56927611 single base substitution G A downstream_gene_variant BRCA-FR 8 56927714 56927714 single base substitution C T downstream_gene_variant BRCA-UK 8 56825923 56825923 single base substitution C T intron_variant BRCA-UK 8 56831371 56831371 single base substitution G A intron_variant BRCA-UK 8 56840997 56840997 single base substitution G A intron_variant BRCA-UK 8 56844723 56844723 single base substitution G C intron_variant BRCA-UK 8 56849556 56849556 single base substitution G C intron_variant BRCA-UK 8 56849556 56849556 single base substitution G C upstream_gene_variant BRCA-UK 8 56850466 56850466 single base substitution G T intron_variant BRCA-UK 8 56850466 56850466 single base substitution G T upstream_gene_variant BRCA-UK 8 56850494 56850494 single base substitution G T intron_variant BRCA-UK 8 56850494 56850494 single base substitution G T upstream_gene_variant BRCA-UK 8 56859461 56859461 single base substitution T C intron_variant BRCA-UK 8 56863061 56863061 single base substitution G A missense_variant E110K 328G>A BRCA-UK 8 56863061 56863061 single base substitution G A missense_variant E89K 265G>A BRCA-UK 8 56863061 56863061 single base substitution G A upstream_gene_variant BRCA-UK 8 56867645 56867645 single base substitution T C downstream_gene_variant BRCA-UK 8 56867645 56867645 single base substitution T C intron_variant BRCA-UK 8 56867645 56867645 single base substitution T C upstream_gene_variant BRCA-UK 8 56875408 56875408 single base substitution A G intron_variant BRCA-UK 8 56878516 56878516 single base substitution T A intron_variant BRCA-UK 8 56890293 56890293 single base substitution G C intron_variant BRCA-UK 8 56890884 56890884 single base substitution C T intron_variant BRCA-UK 8 56905665 56905665 single base substitution A T intron_variant BRCA-UK 8 56910445 56910445 single base substitution C T intron_variant BRCA-UK 8 56910691 56910691 single base substitution G C intron_variant BRCA-UK 8 56913274 56913274 single base substitution G A downstream_gene_variant BRCA-UK 8 56913274 56913274 single base substitution G A intron_variant BRCA-US 8 56854475 56854475 single base substitution G C missense_variant L19F 57G>C BRCA-US 8 56864664 56864664 single base substitution A T downstream_gene_variant BRCA-US 8 56864664 56864664 single base substitution A T missense_variant K188N 564A>T BRCA-US 8 56864664 56864664 single base substitution A T missense_variant K209N 627A>T BRCA-US 8 56864664 56864664 single base substitution A T upstream_gene_variant BRCA-US 8 56910950 56910950 single base substitution C T exon_variant BRCA-US 8 56910950 56910950 single base substitution C T missense_variant R345W 1033C>T BRCA-US 8 56910950 56910950 single base substitution C T missense_variant R366W 1096C>T BRCA-US 8 56912024 56912024 single base substitution G A downstream_gene_variant BRCA-US 8 56912024 56912024 single base substitution G A missense_variant G397R 1189G>A BRCA-US 8 56912024 56912024 single base substitution G A missense_variant G418R 1252G>A BRCA-US 8 56922572 56922572 single base substitution A C missense_variant K460T 1379A>C BRCA-US 8 56922572 56922572 single base substitution A C missense_variant K481T 1442A>C BRCA-US 8 56922638 56922638 single base substitution C A missense_variant A482D 1445C>A BRCA-US 8 56922638 56922638 single base substitution C A missense_variant A503D 1508C>A BTCA-JP 8 56854639 56854639 deletion of <=200bp A - intron_variant BTCA-JP 8 56860025 56860025 single base substitution G A intron_variant BTCA-JP 8 56863243 56863243 single base substitution G T missense_variant W108C 324G>T BTCA-JP 8 56863243 56863243 single base substitution G T missense_variant W129C 387G>T BTCA-JP 8 56863243 56863243 single base substitution G T upstream_gene_variant BTCA-JP 8 56879260 56879260 single base substitution T C intron_variant BTCA-JP 8 56922760 56922760 single base substitution G A 3_prime_UTR_variant CESC-US 8 56821610 56821610 single base substitution A C intron_variant CESC-US 8 56910991 56910991 single base substitution C G exon_variant CESC-US 8 56910991 56910991 single base substitution C G synonymous_variant L358L 1074C>G CESC-US 8 56910991 56910991 single base substitution C G synonymous_variant L379L 1137C>G CLLE-ES 8 56794801 56794802 deletion of <=200bp GT - intron_variant CLLE-ES 8 56814384 56814384 single base substitution C G intron_variant CLLE-ES 8 56830038 56830038 single base substitution C T intron_variant CLLE-ES 8 56842043 56842043 insertion of <=200bp - AT intron_variant CLLE-ES 8 56866758 56866758 single base substitution A T downstream_gene_variant CLLE-ES 8 56866758 56866758 single base substitution A T intron_variant CLLE-ES 8 56866758 56866758 single base substitution A T upstream_gene_variant CLLE-ES 8 56885764 56885764 single base substitution A C intron_variant CLLE-ES 8 56893575 56893575 single base substitution C T intron_variant CLLE-ES 8 56903878 56903878 single base substitution C T intron_variant CLLE-ES 8 56921563 56921563 single base substitution A G intron_variant CLLE-ES 8 56923971 56923971 single base substitution C T downstream_gene_variant COAD-US 8 56864542 56864542 single base substitution G A downstream_gene_variant COAD-US 8 56864542 56864542 single base substitution G A missense_variant V148I 442G>A COAD-US 8 56864542 56864542 single base substitution G A missense_variant V169I 505G>A COAD-US 8 56864542 56864542 single base substitution G A upstream_gene_variant COAD-US 8 56879351 56879351 single base substitution G A exon_variant COAD-US 8 56879351 56879351 single base substitution G A missense_variant E269K 805G>A COAD-US 8 56879351 56879351 single base substitution G A missense_variant E290K 868G>A COAD-US 8 56912001 56912001 single base substitution C T downstream_gene_variant COAD-US 8 56912001 56912001 single base substitution C T missense_variant T389M 1166C>T COAD-US 8 56912001 56912001 single base substitution C T missense_variant T410M 1229C>T COCA-CN 8 56798818 56798818 single base substitution G T intron_variant COCA-CN 8 56803335 56803335 single base substitution A G intron_variant COCA-CN 8 56809516 56809516 single base substitution C T intron_variant COCA-CN 8 56822552 56822552 single base substitution C T intron_variant COCA-CN 8 56841444 56841444 single base substitution C T intron_variant COCA-CN 8 56860301 56860301 single base substitution G A intron_variant COCA-CN 8 56864388 56864388 single base substitution A G downstream_gene_variant COCA-CN 8 56864388 56864388 single base substitution A G intron_variant COCA-CN 8 56864388 56864388 single base substitution A G upstream_gene_variant COCA-CN 8 56872082 56872082 single base substitution T C intron_variant COCA-CN 8 56872102 56872102 single base substitution C T intron_variant COCA-CN 8 56879450 56879450 single base substitution G A exon_variant COCA-CN 8 56879450 56879450 single base substitution G A missense_variant A302T 904G>A COCA-CN 8 56879450 56879450 single base substitution G A missense_variant A323T 967G>A EOPC-DE 8 56787836 56787836 single base substitution G T upstream_gene_variant EOPC-DE 8 56796811 56796811 single base substitution G T intron_variant ESAD-UK 8 56788667 56788667 single base substitution T G upstream_gene_variant ESAD-UK 8 56788724 56788724 single base substitution C T upstream_gene_variant ESAD-UK 8 56789842 56789842 insertion of <=200bp - G upstream_gene_variant ESAD-UK 8 56795510 56795510 single base substitution A G intron_variant ESAD-UK 8 56795744 56795744 single base substitution T G intron_variant ESAD-UK 8 56795943 56795943 single base substitution G A intron_variant ESAD-UK 8 56796450 56796450 single base substitution G A intron_variant ESAD-UK 8 56797762 56797762 single base substitution G C intron_variant ESAD-UK 8 56800017 56800017 single base substitution T A intron_variant ESAD-UK 8 56803687 56803687 single base substitution G A intron_variant ESAD-UK 8 56804957 56804957 single base substitution C T intron_variant ESAD-UK 8 56806734 56806734 deletion of <=200bp C - intron_variant ESAD-UK 8 56807182 56807182 single base substitution C T intron_variant ESAD-UK 8 56808157 56808157 single base substitution T G intron_variant ESAD-UK 8 56808663 56808663 single base substitution A T intron_variant ESAD-UK 8 56809225 56809225 single base substitution A T intron_variant ESAD-UK 8 56809346 56809346 single base substitution G T intron_variant ESAD-UK 8 56809581 56809581 single base substitution G A intron_variant ESAD-UK 8 56814010 56814010 single base substitution A G intron_variant ESAD-UK 8 56815520 56815520 single base substitution G T intron_variant ESAD-UK 8 56818054 56818054 single base substitution G T intron_variant ESAD-UK 8 56818926 56818926 single base substitution G A intron_variant ESAD-UK 8 56822017 56822017 single base substitution C T intron_variant ESAD-UK 8 56823242 56823242 single base substitution A T intron_variant ESAD-UK 8 56824636 56824636 single base substitution G A intron_variant ESAD-UK 8 56825846 56825846 single base substitution T G intron_variant ESAD-UK 8 56828696 56828696 single base substitution T G intron_variant ESAD-UK 8 56829030 56829030 single base substitution G T intron_variant ESAD-UK 8 56829237 56829237 single base substitution G A intron_variant ESAD-UK 8 56830490 56830490 single base substitution C G intron_variant ESAD-UK 8 56831303 56831303 single base substitution C T intron_variant ESAD-UK 8 56835038 56835038 single base substitution G T intron_variant ESAD-UK 8 56837662 56837662 single base substitution G A intron_variant ESAD-UK 8 56838812 56838812 single base substitution A G intron_variant ESAD-UK 8 56838934 56838934 single base substitution T A intron_variant ESAD-UK 8 56840402 56840402 single base substitution A G intron_variant ESAD-UK 8 56843984 56843984 single base substitution C G intron_variant ESAD-UK 8 56844278 56844278 single base substitution T A intron_variant ESAD-UK 8 56845793 56845793 single base substitution T C intron_variant ESAD-UK 8 56848227 56848227 single base substitution C T intron_variant ESAD-UK 8 56848227 56848227 single base substitution C T upstream_gene_variant ESAD-UK 8 56850835 56850835 single base substitution C A intron_variant ESAD-UK 8 56850835 56850835 single base substitution C A upstream_gene_variant ESAD-UK 8 56851155 56851155 single base substitution C T intron_variant ESAD-UK 8 56851155 56851155 single base substitution C T upstream_gene_variant ESAD-UK 8 56851945 56851945 single base substitution G A intron_variant ESAD-UK 8 56851945 56851945 single base substitution G A upstream_gene_variant ESAD-UK 8 56854893 56854904 deletion of <=200bp TATATATATGTG - intron_variant ESAD-UK 8 56855873 56855873 single base substitution T C intron_variant ESAD-UK 8 56856789 56856790 deletion of <=200bp TG - intron_variant ESAD-UK 8 56857643 56857643 single base substitution G T intron_variant ESAD-UK 8 56858534 56858534 single base substitution T C intron_variant ESAD-UK 8 56858976 56858976 single base substitution A T intron_variant ESAD-UK 8 56860301 56860301 single base substitution G A intron_variant ESAD-UK 8 56861882 56861882 single base substitution G C intron_variant ESAD-UK 8 56864479 56864479 single base substitution C T downstream_gene_variant ESAD-UK 8 56864479 56864479 single base substitution C T intron_variant ESAD-UK 8 56864479 56864479 single base substitution C T upstream_gene_variant ESAD-UK 8 56866610 56866610 single base substitution C T downstream_gene_variant ESAD-UK 8 56866610 56866610 single base substitution C T intron_variant ESAD-UK 8 56866610 56866610 single base substitution C T upstream_gene_variant ESAD-UK 8 56871705 56871705 single base substitution T G intron_variant ESAD-UK 8 56872166 56872166 insertion of <=200bp - T intron_variant ESAD-UK 8 56877121 56877121 single base substitution C T intron_variant ESAD-UK 8 56877629 56877629 single base substitution A G intron_variant ESAD-UK 8 56878091 56878091 insertion of <=200bp - T intron_variant ESAD-UK 8 56878333 56878333 single base substitution G C intron_variant ESAD-UK 8 56879674 56879674 single base substitution C T intron_variant ESAD-UK 8 56879722 56879722 single base substitution G T intron_variant ESAD-UK 8 56880809 56880810 deletion of <=200bp AT - intron_variant ESAD-UK 8 56884280 56884280 single base substitution G A intron_variant ESAD-UK 8 56890751 56890751 single base substitution G A intron_variant ESAD-UK 8 56890816 56890816 single base substitution G A intron_variant ESAD-UK 8 56891161 56891161 single base substitution G A intron_variant ESAD-UK 8 56892460 56892460 single base substitution C T intron_variant ESAD-UK 8 56892600 56892600 single base substitution C A intron_variant ESAD-UK 8 56893820 56893820 single base substitution C T intron_variant ESAD-UK 8 56893997 56893997 single base substitution C T intron_variant ESAD-UK 8 56894085 56894085 single base substitution T A intron_variant ESAD-UK 8 56894717 56894717 single base substitution C T intron_variant ESAD-UK 8 56896394 56896394 single base substitution T C intron_variant ESAD-UK 8 56896549 56896549 single base substitution G A intron_variant ESAD-UK 8 56898356 56898356 single base substitution C T intron_variant ESAD-UK 8 56898754 56898754 insertion of <=200bp - CA intron_variant ESAD-UK 8 56900787 56900787 single base substitution A G intron_variant ESAD-UK 8 56900985 56900985 single base substitution G T intron_variant ESAD-UK 8 56901409 56901409 single base substitution G A intron_variant ESAD-UK 8 56903863 56903863 single base substitution A G intron_variant ESAD-UK 8 56905766 56905766 deletion of <=200bp A - intron_variant ESAD-UK 8 56905786 56905786 single base substitution A G intron_variant ESAD-UK 8 56907847 56907847 single base substitution A C intron_variant ESAD-UK 8 56909682 56909682 single base substitution C A intron_variant ESAD-UK 8 56910142 56910142 single base substitution T C intron_variant ESAD-UK 8 56910928 56910928 single base substitution C T exon_variant ESAD-UK 8 56910928 56910928 single base substitution C T synonymous_variant I337I 1011C>T ESAD-UK 8 56910928 56910928 single base substitution C T synonymous_variant I358I 1074C>T ESAD-UK 8 56911013 56911013 single base substitution G C downstream_gene_variant ESAD-UK 8 56911013 56911013 single base substitution G C missense_variant G366R 1096G>C ESAD-UK 8 56911013 56911013 single base substitution G C missense_variant G387R 1159G>C ESAD-UK 8 56911108 56911108 single base substitution G C downstream_gene_variant ESAD-UK 8 56911108 56911108 single base substitution G C intron_variant ESAD-UK 8 56912269 56912269 single base substitution G A downstream_gene_variant ESAD-UK 8 56912269 56912269 single base substitution G A intron_variant ESAD-UK 8 56912454 56912454 single base substitution C T downstream_gene_variant ESAD-UK 8 56912454 56912454 single base substitution C T intron_variant ESAD-UK 8 56912529 56912529 single base substitution C T downstream_gene_variant ESAD-UK 8 56912529 56912529 single base substitution C T intron_variant ESAD-UK 8 56914190 56914190 single base substitution C G downstream_gene_variant ESAD-UK 8 56914190 56914190 single base substitution C G intron_variant ESAD-UK 8 56914987 56914987 single base substitution A T downstream_gene_variant ESAD-UK 8 56914987 56914987 single base substitution A T intron_variant ESAD-UK 8 56916085 56916085 single base substitution G A intron_variant ESAD-UK 8 56917290 56917290 single base substitution A C intron_variant ESAD-UK 8 56917489 56917489 single base substitution G A intron_variant ESAD-UK 8 56918681 56918681 single base substitution G T intron_variant ESAD-UK 8 56919587 56919587 single base substitution C A intron_variant ESAD-UK 8 56920120 56920120 single base substitution C T intron_variant ESAD-UK 8 56920851 56920851 single base substitution C G intron_variant ESAD-UK 8 56922520 56922520 single base substitution C T missense_variant R443C 1327C>T ESAD-UK 8 56922520 56922520 single base substitution C T missense_variant R464C 1390C>T ESAD-UK 8 56923216 56923216 deletion of <=200bp T - 3_prime_UTR_variant ESAD-UK 8 56923216 56923216 deletion of <=200bp T - downstream_gene_variant ESAD-UK 8 56925940 56925940 single base substitution C G downstream_gene_variant ESAD-UK 8 56926048 56926048 single base substitution T C downstream_gene_variant ESAD-UK 8 56926424 56926424 single base substitution G A downstream_gene_variant ESAD-UK 8 56928072 56928072 single base substitution C G downstream_gene_variant ESAD-UK 8 56928412 56928412 single base substitution T C downstream_gene_variant ESAD-UK 8 56928452 56928452 single base substitution C T downstream_gene_variant ESAD-UK 8 56928711 56928711 insertion of <=200bp - G downstream_gene_variant GBM-US 8 56854426 56854426 single base substitution G A missense_variant C3Y 8G>A GBM-US 8 56863056 56863056 single base substitution A G missense_variant K108R 323A>G GBM-US 8 56863056 56863056 single base substitution A G missense_variant K87R 260A>G GBM-US 8 56863056 56863056 single base substitution A G upstream_gene_variant KIRP-US 8 56922610 56922610 single base substitution C A missense_variant Q473K 1417C>A KIRP-US 8 56922610 56922610 single base substitution C A missense_variant Q494K 1480C>A LAML-KR 8 56800126 56800126 single base substitution T A intron_variant LAML-KR 8 56836637 56836637 single base substitution A T intron_variant LAML-KR 8 56925846 56925846 single base substitution G T downstream_gene_variant LICA-FR 8 56803287 56803287 deletion of <=200bp T - intron_variant LICA-FR 8 56849556 56849556 single base substitution G C intron_variant LICA-FR 8 56849556 56849556 single base substitution G C upstream_gene_variant LICA-FR 8 56851668 56851668 single base substitution A G intron_variant LICA-FR 8 56851668 56851668 single base substitution A G upstream_gene_variant LICA-FR 8 56853300 56853300 single base substitution C G intron_variant LICA-FR 8 56863032 56863032 single base substitution G A stop_gained W100* 299G>A LICA-FR 8 56863032 56863032 single base substitution G A stop_gained W79* 236G>A LICA-FR 8 56863032 56863032 single base substitution G A upstream_gene_variant LICA-FR 8 56866587 56866587 single base substitution A G downstream_gene_variant LICA-FR 8 56866587 56866587 single base substitution A G intron_variant LICA-FR 8 56866587 56866587 single base substitution A G upstream_gene_variant LICA-FR 8 56886199 56886199 single base substitution T G intron_variant LICA-FR 8 56905197 56905197 single base substitution G T intron_variant LICA-FR 8 56914647 56914647 single base substitution C T downstream_gene_variant LICA-FR 8 56914647 56914647 single base substitution C T intron_variant LICA-FR 8 56914698 56914698 single base substitution G C downstream_gene_variant LICA-FR 8 56914698 56914698 single base substitution G C intron_variant LICA-FR 8 56916488 56916489 deletion of <=200bp TT - intron_variant LICA-FR 8 56920683 56920683 insertion of <=200bp - AAAAAAAAAT intron_variant LICA-FR 8 56922623 56922623 single base substitution A G missense_variant D477G 1430A>G LICA-FR 8 56922623 56922623 single base substitution A G missense_variant D498G 1493A>G LIHC-US 8 56879395 56879395 single base substitution G T exon_variant LIHC-US 8 56879395 56879395 single base substitution G T missense_variant R283S 849G>T LIHC-US 8 56879395 56879395 single base substitution G T missense_variant R304S 912G>T LINC-JP 8 56787837 56787837 single base substitution C G upstream_gene_variant LINC-JP 8 56793717 56793717 single base substitution A T intron_variant LINC-JP 8 56795686 56795686 single base substitution C T intron_variant LINC-JP 8 56796163 56796163 single base substitution A G intron_variant LINC-JP 8 56800042 56800042 single base substitution G A intron_variant LINC-JP 8 56801034 56801035 deletion of <=200bp TT - intron_variant LINC-JP 8 56817667 56817667 single base substitution T G intron_variant LINC-JP 8 56822348 56822348 single base substitution A G intron_variant LINC-JP 8 56833353 56833353 single base substitution A C intron_variant LINC-JP 8 56841249 56841249 single base substitution A T intron_variant LINC-JP 8 56851205 56851205 single base substitution C G intron_variant LINC-JP 8 56851205 56851205 single base substitution C G upstream_gene_variant LINC-JP 8 56851226 56851226 single base substitution G A intron_variant LINC-JP 8 56851226 56851226 single base substitution G A upstream_gene_variant LINC-JP 8 56860325 56860325 single base substitution C T intron_variant LINC-JP 8 56866317 56866317 insertion of <=200bp - A downstream_gene_variant LINC-JP 8 56866317 56866317 insertion of <=200bp - A intron_variant LINC-JP 8 56866317 56866317 insertion of <=200bp - A upstream_gene_variant LINC-JP 8 56886192 56886192 insertion of <=200bp - A intron_variant LINC-JP 8 56891401 56891401 single base substitution C A intron_variant LINC-JP 8 56892724 56892724 single base substitution A G intron_variant LINC-JP 8 56900987 56900987 single base substitution G A intron_variant LINC-JP 8 56904121 56904121 single base substitution A G intron_variant LINC-JP 8 56914973 56914973 single base substitution A G downstream_gene_variant LINC-JP 8 56914973 56914973 single base substitution A G intron_variant LINC-JP 8 56915621 56915621 single base substitution G T downstream_gene_variant LINC-JP 8 56915621 56915621 single base substitution G T intron_variant LINC-JP 8 56924761 56924761 single base substitution C T downstream_gene_variant LIRI-JP 8 56789238 56789238 single base substitution A C upstream_gene_variant LIRI-JP 8 56792346 56792346 single base substitution G A upstream_gene_variant LIRI-JP 8 56792969 56792969 deletion of <=200bp C - intron_variant LIRI-JP 8 56794722 56794722 single base substitution C T intron_variant LIRI-JP 8 56794731 56794731 single base substitution G T intron_variant LIRI-JP 8 56795301 56795301 insertion of <=200bp - T intron_variant LIRI-JP 8 56795436 56795436 deletion of <=200bp G - intron_variant LIRI-JP 8 56795554 56795554 single base substitution A G intron_variant LIRI-JP 8 56796649 56796649 single base substitution G T intron_variant LIRI-JP 8 56796763 56796763 single base substitution A G intron_variant LIRI-JP 8 56798563 56798563 single base substitution C T intron_variant LIRI-JP 8 56799740 56799740 single base substitution G T intron_variant LIRI-JP 8 56800166 56800166 single base substitution T C intron_variant LIRI-JP 8 56800664 56800664 single base substitution A G intron_variant LIRI-JP 8 56801539 56801539 single base substitution A T intron_variant LIRI-JP 8 56803701 56803701 single base substitution C T intron_variant LIRI-JP 8 56803768 56803768 single base substitution G T intron_variant LIRI-JP 8 56805307 56805307 single base substitution T C intron_variant LIRI-JP 8 56808595 56808595 single base substitution G A intron_variant LIRI-JP 8 56808794 56808794 single base substitution A G intron_variant LIRI-JP 8 56809113 56809113 single base substitution A G intron_variant LIRI-JP 8 56809687 56809687 single base substitution A C intron_variant LIRI-JP 8 56809831 56809831 single base substitution G T intron_variant LIRI-JP 8 56810855 56810855 single base substitution A G intron_variant LIRI-JP 8 56811828 56811828 single base substitution A G intron_variant LIRI-JP 8 56815319 56815319 single base substitution A G intron_variant LIRI-JP 8 56817084 56817084 single base substitution A G intron_variant LIRI-JP 8 56819476 56819476 single base substitution T C intron_variant LIRI-JP 8 56820096 56820096 single base substitution C G intron_variant LIRI-JP 8 56820776 56820776 single base substitution T C intron_variant LIRI-JP 8 56822854 56822854 single base substitution C G intron_variant LIRI-JP 8 56824097 56824097 single base substitution G A intron_variant LIRI-JP 8 56827605 56827605 single base substitution T C intron_variant LIRI-JP 8 56828004 56828004 single base substitution C T intron_variant LIRI-JP 8 56828173 56828173 single base substitution G A intron_variant LIRI-JP 8 56829556 56829556 single base substitution T C intron_variant LIRI-JP 8 56831783 56831783 single base substitution G T intron_variant LIRI-JP 8 56832342 56832342 single base substitution C T intron_variant LIRI-JP 8 56833372 56833372 single base substitution C T intron_variant LIRI-JP 8 56833681 56833681 single base substitution A G intron_variant LIRI-JP 8 56836745 56836745 single base substitution G A intron_variant LIRI-JP 8 56838540 56838540 single base substitution G A intron_variant LIRI-JP 8 56841381 56841381 single base substitution G C intron_variant LIRI-JP 8 56843251 56843251 single base substitution T C intron_variant LIRI-JP 8 56843818 56843818 single base substitution A G intron_variant LIRI-JP 8 56844029 56844029 single base substitution A G intron_variant LIRI-JP 8 56844593 56844593 single base substitution A G intron_variant LIRI-JP 8 56846446 56846446 single base substitution C A intron_variant LIRI-JP 8 56847460 56847460 single base substitution C G intron_variant LIRI-JP 8 56847606 56847606 single base substitution G T intron_variant LIRI-JP 8 56852195 56852195 single base substitution G A intron_variant LIRI-JP 8 56852195 56852195 single base substitution G A upstream_gene_variant LIRI-JP 8 56852378 56852378 single base substitution C T intron_variant LIRI-JP 8 56852378 56852378 single base substitution C T upstream_gene_variant LIRI-JP 8 56853387 56853387 single base substitution T G intron_variant LIRI-JP 8 56854388 56854388 single base substitution A G intron_variant LIRI-JP 8 56854633 56854633 single base substitution G A intron_variant LIRI-JP 8 56855288 56855288 single base substitution G A intron_variant LIRI-JP 8 56855896 56855896 single base substitution A T intron_variant LIRI-JP 8 56856042 56856042 single base substitution G T intron_variant LIRI-JP 8 56857742 56857742 single base substitution A G intron_variant LIRI-JP 8 56858105 56858105 single base substitution A G intron_variant LIRI-JP 8 56858372 56858372 single base substitution A G intron_variant LIRI-JP 8 56861990 56861990 single base substitution G A intron_variant LIRI-JP 8 56864710 56864710 single base substitution T C downstream_gene_variant LIRI-JP 8 56864710 56864710 single base substitution T C intron_variant LIRI-JP 8 56864710 56864710 single base substitution T C upstream_gene_variant LIRI-JP 8 56867033 56867033 single base substitution A G downstream_gene_variant LIRI-JP 8 56867033 56867033 single base substitution A G intron_variant LIRI-JP 8 56867033 56867033 single base substitution A G upstream_gene_variant LIRI-JP 8 56867092 56867092 single base substitution C T downstream_gene_variant LIRI-JP 8 56867092 56867092 single base substitution C T intron_variant LIRI-JP 8 56867092 56867092 single base substitution C T upstream_gene_variant LIRI-JP 8 56868138 56868138 single base substitution A G downstream_gene_variant LIRI-JP 8 56868138 56868138 single base substitution A G intron_variant LIRI-JP 8 56870200 56870200 single base substitution T C intron_variant LIRI-JP 8 56870873 56870873 single base substitution G A intron_variant LIRI-JP 8 56872796 56872796 single base substitution A G intron_variant LIRI-JP 8 56873645 56873648 deletion of <=200bp CTCA - intron_variant LIRI-JP 8 56875336 56875336 single base substitution A G intron_variant LIRI-JP 8 56877541 56877541 deletion of <=200bp A - intron_variant LIRI-JP 8 56877611 56877611 single base substitution C A intron_variant LIRI-JP 8 56878402 56878402 single base substitution G T intron_variant LIRI-JP 8 56878403 56878403 single base substitution G T intron_variant LIRI-JP 8 56878751 56878751 single base substitution C A intron_variant LIRI-JP 8 56878813 56878813 single base substitution G T intron_variant LIRI-JP 8 56878943 56878943 single base substitution T A intron_variant LIRI-JP 8 56879747 56879747 single base substitution A T intron_variant LIRI-JP 8 56879927 56879927 single base substitution G A intron_variant LIRI-JP 8 56880531 56880531 single base substitution G A intron_variant LIRI-JP 8 56882002 56882002 single base substitution A T intron_variant LIRI-JP 8 56883016 56883016 single base substitution A G intron_variant LIRI-JP 8 56883283 56883283 single base substitution G T intron_variant LIRI-JP 8 56883380 56883380 single base substitution A G intron_variant LIRI-JP 8 56883888 56883888 single base substitution G A intron_variant LIRI-JP 8 56885594 56885594 single base substitution A G intron_variant LIRI-JP 8 56887126 56887126 single base substitution G T intron_variant LIRI-JP 8 56887293 56887293 single base substitution A G intron_variant LIRI-JP 8 56889020 56889020 single base substitution C T intron_variant LIRI-JP 8 56889187 56889187 single base substitution T A intron_variant LIRI-JP 8 56889197 56889197 single base substitution A T intron_variant LIRI-JP 8 56891867 56891867 single base substitution C T intron_variant LIRI-JP 8 56893502 56893502 single base substitution G A intron_variant LIRI-JP 8 56897992 56897992 single base substitution A G intron_variant LIRI-JP 8 56898652 56898652 single base substitution C T intron_variant LIRI-JP 8 56900750 56900750 single base substitution A T intron_variant LIRI-JP 8 56901525 56901525 single base substitution T G intron_variant LIRI-JP 8 56906044 56906044 single base substitution A G intron_variant LIRI-JP 8 56907370 56907370 single base substitution T A intron_variant LIRI-JP 8 56907380 56907380 single base substitution A T intron_variant LIRI-JP 8 56907437 56907437 single base substitution G C intron_variant LIRI-JP 8 56910289 56910289 single base substitution T A intron_variant LIRI-JP 8 56912424 56912424 single base substitution G T downstream_gene_variant LIRI-JP 8 56912424 56912424 single base substitution G T intron_variant LIRI-JP 8 56912586 56912586 single base substitution A T downstream_gene_variant LIRI-JP 8 56912586 56912586 single base substitution A T intron_variant LIRI-JP 8 56916916 56916916 single base substitution G A intron_variant LIRI-JP 8 56921265 56921265 insertion of <=200bp - T intron_variant LIRI-JP 8 56923249 56923249 single base substitution G A 3_prime_UTR_variant LIRI-JP 8 56923249 56923249 single base substitution G A downstream_gene_variant LIRI-JP 8 56924245 56924245 single base substitution T C downstream_gene_variant LUSC-KR 8 56791897 56791897 single base substitution C A upstream_gene_variant LUSC-KR 8 56793381 56793381 single base substitution A G intron_variant LUSC-KR 8 56793793 56793793 single base substitution A G intron_variant LUSC-KR 8 56794976 56794976 single base substitution G A intron_variant LUSC-KR 8 56810489 56810489 single base substitution A G intron_variant LUSC-KR 8 56814310 56814310 single base substitution C G intron_variant LUSC-KR 8 56824689 56824689 single base substitution A T intron_variant LUSC-KR 8 56825901 56825901 single base substitution G C intron_variant LUSC-KR 8 56837772 56837772 single base substitution C G intron_variant LUSC-KR 8 56837874 56837874 single base substitution G A intron_variant LUSC-KR 8 56839727 56839727 single base substitution T C intron_variant LUSC-KR 8 56841212 56841212 single base substitution T C intron_variant LUSC-KR 8 56841868 56841868 single base substitution A T intron_variant LUSC-KR 8 56848753 56848753 single base substitution G T intron_variant LUSC-KR 8 56848753 56848753 single base substitution G T upstream_gene_variant LUSC-KR 8 56849032 56849032 single base substitution C G intron_variant LUSC-KR 8 56849032 56849032 single base substitution C G upstream_gene_variant LUSC-KR 8 56855206 56855206 single base substitution C T intron_variant LUSC-KR 8 56860893 56860893 single base substitution A C intron_variant LUSC-KR 8 56865453 56865453 single base substitution A G downstream_gene_variant LUSC-KR 8 56865453 56865453 single base substitution A G intron_variant LUSC-KR 8 56865453 56865453 single base substitution A G upstream_gene_variant LUSC-KR 8 56868739 56868739 single base substitution G A intron_variant LUSC-KR 8 56872872 56872872 single base substitution G A intron_variant LUSC-KR 8 56880996 56880996 single base substitution A G intron_variant LUSC-KR 8 56881073 56881073 single base substitution C A intron_variant LUSC-KR 8 56881652 56881652 single base substitution C T intron_variant LUSC-KR 8 56882183 56882183 single base substitution A G intron_variant LUSC-KR 8 56883585 56883585 single base substitution C T intron_variant LUSC-KR 8 56890296 56890296 single base substitution A C intron_variant LUSC-KR 8 56893653 56893653 single base substitution C T intron_variant LUSC-KR 8 56896156 56896156 single base substitution C G intron_variant LUSC-KR 8 56911860 56911860 single base substitution C G downstream_gene_variant LUSC-KR 8 56911860 56911860 single base substitution C G intron_variant LUSC-KR 8 56914013 56914013 single base substitution A G downstream_gene_variant LUSC-KR 8 56914013 56914013 single base substitution A G intron_variant LUSC-KR 8 56919003 56919003 single base substitution G C intron_variant LUSC-KR 8 56925753 56925753 single base substitution G C downstream_gene_variant LUSC-US 8 56866519 56866519 single base substitution G C downstream_gene_variant LUSC-US 8 56866519 56866519 single base substitution G C missense_variant G235R 703G>C LUSC-US 8 56866519 56866519 single base substitution G C missense_variant G256R 766G>C LUSC-US 8 56866519 56866519 single base substitution G C upstream_gene_variant LUSC-US 8 56879273 56879273 single base substitution G T splice_acceptor_variant MALY-DE 8 56789842 56789842 insertion of <=200bp - G upstream_gene_variant MALY-DE 8 56792582 56792582 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MALY-DE 8 56793129 56793129 single base substitution C T intron_variant MALY-DE 8 56793309 56793309 single base substitution C T intron_variant MALY-DE 8 56804434 56804434 single base substitution G C intron_variant MALY-DE 8 56804435 56804435 single base substitution G T intron_variant MALY-DE 8 56809223 56809223 single base substitution T A intron_variant MALY-DE 8 56818891 56818891 insertion of <=200bp - TTTTG intron_variant MALY-DE 8 56825325 56825325 single base substitution C T intron_variant MALY-DE 8 56831210 56831210 single base substitution G T intron_variant MALY-DE 8 56831901 56831901 single base substitution T C intron_variant MALY-DE 8 56836482 56836482 single base substitution A G intron_variant MALY-DE 8 56838720 56838720 single base substitution C T intron_variant MALY-DE 8 56841651 56841658 deletion of <=200bp AGTTGACT - intron_variant MALY-DE 8 56841885 56841885 single base substitution C T intron_variant MALY-DE 8 56842558 56842558 single base substitution A C intron_variant MALY-DE 8 56843024 56843035 deletion of <=200bp CTCCTTGGTTGG - intron_variant MALY-DE 8 56852022 56852023 deletion of <=200bp AG - intron_variant MALY-DE 8 56852022 56852023 deletion of <=200bp AG - upstream_gene_variant MALY-DE 8 56852929 56852929 insertion of <=200bp - TTA intron_variant MALY-DE 8 56855923 56855923 single base substitution T C intron_variant MALY-DE 8 56855995 56855995 single base substitution T A intron_variant MALY-DE 8 56855997 56855997 single base substitution T C intron_variant MALY-DE 8 56863092 56863092 single base substitution A G missense_variant K120R 359A>G MALY-DE 8 56863092 56863092 single base substitution A G missense_variant K99R 296A>G MALY-DE 8 56863092 56863092 single base substitution A G upstream_gene_variant MALY-DE 8 56869335 56869335 deletion of <=200bp C - intron_variant MALY-DE 8 56870823 56870823 single base substitution C T intron_variant MALY-DE 8 56877593 56877593 deletion of <=200bp T - intron_variant MALY-DE 8 56891441 56891441 single base substitution T G intron_variant MALY-DE 8 56900991 56900991 single base substitution G A intron_variant MALY-DE 8 56901719 56901719 single base substitution G A intron_variant MALY-DE 8 56907101 56907101 single base substitution A G intron_variant MALY-DE 8 56909082 56909082 single base substitution G A intron_variant MALY-DE 8 56915164 56915164 insertion of <=200bp - AAATT downstream_gene_variant MALY-DE 8 56915164 56915164 insertion of <=200bp - AAATT intron_variant MELA-AU 8 56787705 56787705 single base substitution C T upstream_gene_variant MELA-AU 8 56787850 56787851 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 8 56787890 56787890 single base substitution G A upstream_gene_variant MELA-AU 8 56788296 56788296 single base substitution C T upstream_gene_variant MELA-AU 8 56788524 56788524 single base substitution C T upstream_gene_variant MELA-AU 8 56788614 56788614 single base substitution T C upstream_gene_variant MELA-AU 8 56788682 56788682 single base substitution C T upstream_gene_variant MELA-AU 8 56788690 56788690 single base substitution C T upstream_gene_variant MELA-AU 8 56788870 56788870 single base substitution G A upstream_gene_variant MELA-AU 8 56789098 56789098 single base substitution C T upstream_gene_variant MELA-AU 8 56789513 56789513 single base substitution T C upstream_gene_variant MELA-AU 8 56789653 56789653 single base substitution T C upstream_gene_variant MELA-AU 8 56790069 56790069 single base substitution C T upstream_gene_variant MELA-AU 8 56790766 56790766 single base substitution G A upstream_gene_variant MELA-AU 8 56790911 56790911 single base substitution G A upstream_gene_variant MELA-AU 8 56793160 56793160 single base substitution C T intron_variant MELA-AU 8 56793327 56793327 single base substitution G A intron_variant MELA-AU 8 56793621 56793621 single base substitution C T intron_variant MELA-AU 8 56793924 56793924 single base substitution G A intron_variant MELA-AU 8 56794486 56794486 single base substitution C T intron_variant MELA-AU 8 56794770 56794770 single base substitution C G intron_variant MELA-AU 8 56795284 56795284 single base substitution C T intron_variant MELA-AU 8 56795724 56795724 single base substitution G A intron_variant MELA-AU 8 56795792 56795792 single base substitution G T intron_variant MELA-AU 8 56796183 56796183 single base substitution G A intron_variant MELA-AU 8 56796902 56796902 single base substitution G A intron_variant MELA-AU 8 56796991 56796991 single base substitution G A intron_variant MELA-AU 8 56797045 56797045 single base substitution C T intron_variant MELA-AU 8 56797125 56797125 single base substitution C T intron_variant MELA-AU 8 56797239 56797239 single base substitution C T intron_variant MELA-AU 8 56797290 56797290 single base substitution T G intron_variant MELA-AU 8 56797372 56797372 single base substitution C T intron_variant MELA-AU 8 56797532 56797532 single base substitution C T intron_variant MELA-AU 8 56798021 56798021 single base substitution C T intron_variant MELA-AU 8 56798043 56798043 single base substitution C T intron_variant MELA-AU 8 56798104 56798104 single base substitution C T intron_variant MELA-AU 8 56798127 56798127 single base substitution G A intron_variant MELA-AU 8 56798145 56798145 single base substitution C G intron_variant MELA-AU 8 56798185 56798185 single base substitution G A intron_variant MELA-AU 8 56798495 56798495 single base substitution G T intron_variant MELA-AU 8 56798830 56798830 single base substitution C T intron_variant MELA-AU 8 56799114 56799114 single base substitution T C intron_variant MELA-AU 8 56799633 56799633 single base substitution C T intron_variant MELA-AU 8 56799731 56799731 single base substitution C G intron_variant MELA-AU 8 56799787 56799787 single base substitution G A intron_variant MELA-AU 8 56800124 56800124 single base substitution T A intron_variant MELA-AU 8 56800128 56800128 single base substitution T A intron_variant MELA-AU 8 56800132 56800132 single base substitution T C intron_variant MELA-AU 8 56800134 56800134 single base substitution T C intron_variant MELA-AU 8 56800175 56800175 single base substitution T A intron_variant MELA-AU 8 56800303 56800303 single base substitution G A intron_variant MELA-AU 8 56800427 56800427 single base substitution C T intron_variant MELA-AU 8 56800779 56800779 single base substitution C T intron_variant MELA-AU 8 56800959 56800959 single base substitution G A intron_variant MELA-AU 8 56801316 56801316 single base substitution G A intron_variant MELA-AU 8 56801359 56801359 single base substitution G A intron_variant MELA-AU 8 56801422 56801422 single base substitution T C intron_variant MELA-AU 8 56801645 56801645 single base substitution C T intron_variant MELA-AU 8 56801987 56801987 single base substitution C T intron_variant MELA-AU 8 56802184 56802184 single base substitution T A intron_variant MELA-AU 8 56802345 56802345 single base substitution C T intron_variant MELA-AU 8 56803181 56803181 single base substitution T A intron_variant MELA-AU 8 56804241 56804241 single base substitution G A intron_variant MELA-AU 8 56804450 56804450 single base substitution C T intron_variant MELA-AU 8 56806105 56806105 single base substitution T G intron_variant MELA-AU 8 56806156 56806156 single base substitution C T intron_variant MELA-AU 8 56806655 56806655 single base substitution G A intron_variant MELA-AU 8 56806794 56806794 single base substitution C T intron_variant MELA-AU 8 56807054 56807054 single base substitution A T intron_variant MELA-AU 8 56807188 56807188 single base substitution T C intron_variant MELA-AU 8 56807320 56807320 single base substitution C A intron_variant MELA-AU 8 56807479 56807479 single base substitution C T intron_variant MELA-AU 8 56807523 56807523 single base substitution T G intron_variant MELA-AU 8 56807559 56807559 single base substitution T C intron_variant MELA-AU 8 56807606 56807606 single base substitution C T intron_variant MELA-AU 8 56807759 56807759 single base substitution A G intron_variant MELA-AU 8 56807870 56807870 single base substitution C T intron_variant MELA-AU 8 56808243 56808243 single base substitution G A intron_variant MELA-AU 8 56808336 56808336 single base substitution G A intron_variant MELA-AU 8 56808367 56808367 single base substitution C T intron_variant MELA-AU 8 56808643 56808643 single base substitution C T intron_variant MELA-AU 8 56809126 56809126 single base substitution G A intron_variant MELA-AU 8 56809720 56809720 single base substitution C T intron_variant MELA-AU 8 56810084 56810084 single base substitution C T intron_variant MELA-AU 8 56810348 56810348 single base substitution T A intron_variant MELA-AU 8 56810652 56810652 single base substitution C T intron_variant MELA-AU 8 56810879 56810879 single base substitution C T intron_variant MELA-AU 8 56811063 56811063 single base substitution G A intron_variant MELA-AU 8 56811726 56811726 single base substitution G A intron_variant MELA-AU 8 56812282 56812282 single base substitution C T intron_variant MELA-AU 8 56812415 56812415 single base substitution C G intron_variant MELA-AU 8 56812616 56812616 single base substitution C T intron_variant MELA-AU 8 56813054 56813054 single base substitution C T intron_variant MELA-AU 8 56813133 56813133 single base substitution C T intron_variant MELA-AU 8 56813639 56813639 single base substitution C T intron_variant MELA-AU 8 56813725 56813726 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 8 56813778 56813778 single base substitution C G intron_variant MELA-AU 8 56813863 56813863 single base substitution C T intron_variant MELA-AU 8 56814279 56814279 single base substitution A G intron_variant MELA-AU 8 56814787 56814787 single base substitution G A intron_variant MELA-AU 8 56814910 56814910 single base substitution G A intron_variant MELA-AU 8 56815498 56815498 single base substitution C T intron_variant MELA-AU 8 56815783 56815783 single base substitution C T intron_variant MELA-AU 8 56815824 56815824 single base substitution T C intron_variant MELA-AU 8 56815840 56815840 single base substitution C T intron_variant MELA-AU 8 56816919 56816919 single base substitution C T intron_variant MELA-AU 8 56818885 56818885 single base substitution C T intron_variant MELA-AU 8 56819032 56819032 single base substitution C T intron_variant MELA-AU 8 56819038 56819038 single base substitution C T intron_variant MELA-AU 8 56819336 56819336 single base substitution C T intron_variant MELA-AU 8 56819382 56819382 single base substitution G A intron_variant MELA-AU 8 56819435 56819435 single base substitution C T intron_variant MELA-AU 8 56819585 56819585 single base substitution C T intron_variant MELA-AU 8 56819823 56819823 single base substitution G A intron_variant MELA-AU 8 56819959 56819959 single base substitution A G intron_variant MELA-AU 8 56820396 56820396 single base substitution G A intron_variant MELA-AU 8 56820550 56820550 single base substitution G A intron_variant MELA-AU 8 56820793 56820793 insertion of <=200bp - TATTTATC intron_variant MELA-AU 8 56820800 56820800 single base substitution T C intron_variant MELA-AU 8 56820802 56820802 single base substitution A C intron_variant MELA-AU 8 56820834 56820834 single base substitution C T intron_variant MELA-AU 8 56820863 56820863 single base substitution G A intron_variant MELA-AU 8 56820913 56820913 single base substitution C T intron_variant MELA-AU 8 56821092 56821092 single base substitution C T intron_variant MELA-AU 8 56821353 56821353 single base substitution C T intron_variant MELA-AU 8 56821729 56821729 single base substitution A T intron_variant MELA-AU 8 56821938 56821938 single base substitution C T intron_variant MELA-AU 8 56822442 56822442 single base substitution G A intron_variant MELA-AU 8 56822681 56822681 single base substitution C T intron_variant MELA-AU 8 56822804 56822804 single base substitution C T intron_variant MELA-AU 8 56822862 56822862 single base substitution C T intron_variant MELA-AU 8 56822939 56822939 single base substitution G C intron_variant MELA-AU 8 56822971 56822971 single base substitution C T intron_variant MELA-AU 8 56823043 56823043 single base substitution C T intron_variant MELA-AU 8 56824068 56824068 single base substitution G A intron_variant MELA-AU 8 56824096 56824096 single base substitution C T intron_variant MELA-AU 8 56824175 56824175 single base substitution G A intron_variant MELA-AU 8 56824540 56824540 single base substitution C T intron_variant MELA-AU 8 56824751 56824751 single base substitution G A intron_variant MELA-AU 8 56824843 56824843 single base substitution C T intron_variant MELA-AU 8 56825050 56825050 single base substitution G A intron_variant MELA-AU 8 56825205 56825205 single base substitution G A intron_variant MELA-AU 8 56825442 56825442 single base substitution C T intron_variant MELA-AU 8 56825781 56825781 single base substitution C A intron_variant MELA-AU 8 56825866 56825866 single base substitution C T intron_variant MELA-AU 8 56826111 56826111 single base substitution T G intron_variant MELA-AU 8 56826587 56826587 single base substitution C T intron_variant MELA-AU 8 56826641 56826641 single base substitution G A intron_variant MELA-AU 8 56826981 56826981 single base substitution A T intron_variant MELA-AU 8 56827228 56827228 single base substitution C T intron_variant MELA-AU 8 56827263 56827263 single base substitution C T intron_variant MELA-AU 8 56827775 56827775 single base substitution C T intron_variant MELA-AU 8 56827978 56827978 single base substitution T C intron_variant MELA-AU 8 56828011 56828011 single base substitution C T intron_variant MELA-AU 8 56828184 56828184 single base substitution G A intron_variant MELA-AU 8 56828196 56828196 single base substitution C T intron_variant MELA-AU 8 56828406 56828406 single base substitution C T intron_variant MELA-AU 8 56828953 56828953 single base substitution C T intron_variant MELA-AU 8 56829035 56829035 single base substitution G T intron_variant MELA-AU 8 56829198 56829198 single base substitution C T intron_variant MELA-AU 8 56829512 56829512 single base substitution G A intron_variant MELA-AU 8 56829836 56829836 single base substitution C T intron_variant MELA-AU 8 56829949 56829949 single base substitution C T intron_variant MELA-AU 8 56830174 56830174 single base substitution C T intron_variant MELA-AU 8 56830672 56830672 single base substitution C T intron_variant MELA-AU 8 56831280 56831280 single base substitution A T intron_variant MELA-AU 8 56831293 56831293 single base substitution G A intron_variant MELA-AU 8 56831311 56831311 single base substitution G T intron_variant MELA-AU 8 56831394 56831394 single base substitution G A intron_variant MELA-AU 8 56832224 56832224 single base substitution G T intron_variant MELA-AU 8 56833328 56833328 single base substitution C T intron_variant MELA-AU 8 56833661 56833661 single base substitution G A intron_variant MELA-AU 8 56833666 56833666 single base substitution G A intron_variant MELA-AU 8 56833958 56833958 single base substitution T C intron_variant MELA-AU 8 56834056 56834056 single base substitution G A intron_variant MELA-AU 8 56834175 56834175 single base substitution G A intron_variant MELA-AU 8 56834513 56834513 single base substitution C T intron_variant MELA-AU 8 56834514 56834514 single base substitution C T intron_variant MELA-AU 8 56834562 56834562 single base substitution A G intron_variant MELA-AU 8 56834685 56834685 single base substitution C T intron_variant MELA-AU 8 56834767 56834767 single base substitution C T intron_variant MELA-AU 8 56835295 56835295 single base substitution C T intron_variant MELA-AU 8 56835758 56835758 single base substitution T A intron_variant MELA-AU 8 56835997 56835997 single base substitution C T intron_variant MELA-AU 8 56836525 56836526 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 8 56836568 56836568 single base substitution C T intron_variant MELA-AU 8 56836772 56836772 single base substitution C T intron_variant MELA-AU 8 56836803 56836803 single base substitution C T intron_variant MELA-AU 8 56836933 56836933 single base substitution T G intron_variant MELA-AU 8 56836956 56836956 single base substitution C T intron_variant MELA-AU 8 56837044 56837044 single base substitution C T intron_variant MELA-AU 8 56837045 56837045 single base substitution C T intron_variant MELA-AU 8 56837107 56837107 single base substitution G A intron_variant MELA-AU 8 56837264 56837265 multiple base substitution (>=2bp and <=200bp) CT TA intron_variant MELA-AU 8 56837405 56837405 single base substitution C T intron_variant MELA-AU 8 56837525 56837525 single base substitution C T intron_variant MELA-AU 8 56837683 56837683 single base substitution C T intron_variant MELA-AU 8 56837708 56837708 single base substitution T C intron_variant MELA-AU 8 56837992 56837992 single base substitution C T intron_variant MELA-AU 8 56838477 56838477 single base substitution T A intron_variant MELA-AU 8 56839319 56839319 single base substitution C T intron_variant MELA-AU 8 56839354 56839354 single base substitution C T intron_variant MELA-AU 8 56840594 56840594 single base substitution G A intron_variant MELA-AU 8 56840659 56840659 single base substitution C T intron_variant MELA-AU 8 56841028 56841028 single base substitution C G intron_variant MELA-AU 8 56841118 56841118 single base substitution C T intron_variant MELA-AU 8 56841400 56841400 single base substitution C T intron_variant MELA-AU 8 56841428 56841428 single base substitution T C intron_variant MELA-AU 8 56841497 56841497 single base substitution G A intron_variant MELA-AU 8 56841753 56841753 single base substitution A T intron_variant MELA-AU 8 56842150 56842150 single base substitution C T intron_variant MELA-AU 8 56842172 56842172 single base substitution G A intron_variant MELA-AU 8 56842270 56842270 single base substitution G A intron_variant MELA-AU 8 56842285 56842285 single base substitution C T intron_variant MELA-AU 8 56842634 56842634 single base substitution C T intron_variant MELA-AU 8 56842732 56842732 single base substitution T C intron_variant MELA-AU 8 56843009 56843010 multiple base substitution (>=2bp and <=200bp) TG GA intron_variant MELA-AU 8 56843214 56843214 single base substitution C T intron_variant MELA-AU 8 56843329 56843329 single base substitution C T intron_variant MELA-AU 8 56843408 56843408 single base substitution C T intron_variant MELA-AU 8 56843423 56843423 single base substitution G A intron_variant MELA-AU 8 56843513 56843513 single base substitution C T intron_variant MELA-AU 8 56843978 56843978 single base substitution G A intron_variant MELA-AU 8 56844322 56844322 single base substitution C T intron_variant MELA-AU 8 56845023 56845023 single base substitution C A intron_variant MELA-AU 8 56845045 56845045 single base substitution A G intron_variant MELA-AU 8 56845183 56845183 single base substitution T C intron_variant MELA-AU 8 56845314 56845314 single base substitution C T intron_variant MELA-AU 8 56846362 56846362 single base substitution C T intron_variant MELA-AU 8 56846370 56846370 single base substitution G A intron_variant MELA-AU 8 56846967 56846967 single base substitution G A intron_variant MELA-AU 8 56847144 56847144 single base substitution A G intron_variant MELA-AU 8 56847217 56847217 single base substitution C T intron_variant MELA-AU 8 56847634 56847634 single base substitution C T intron_variant MELA-AU 8 56848193 56848193 single base substitution C T intron_variant MELA-AU 8 56848193 56848193 single base substitution C T upstream_gene_variant MELA-AU 8 56848795 56848795 single base substitution C T intron_variant MELA-AU 8 56848795 56848795 single base substitution C T upstream_gene_variant MELA-AU 8 56848938 56848938 single base substitution C T intron_variant MELA-AU 8 56848938 56848938 single base substitution C T upstream_gene_variant MELA-AU 8 56849478 56849478 single base substitution C T intron_variant MELA-AU 8 56849478 56849478 single base substitution C T upstream_gene_variant MELA-AU 8 56849532 56849532 single base substitution C T intron_variant MELA-AU 8 56849532 56849532 single base substitution C T upstream_gene_variant MELA-AU 8 56849909 56849909 single base substitution C T intron_variant MELA-AU 8 56849909 56849909 single base substitution C T upstream_gene_variant MELA-AU 8 56850134 56850134 single base substitution C T intron_variant MELA-AU 8 56850134 56850134 single base substitution C T upstream_gene_variant MELA-AU 8 56850177 56850177 single base substitution G A intron_variant MELA-AU 8 56850177 56850177 single base substitution G A upstream_gene_variant MELA-AU 8 56850364 56850364 single base substitution C T intron_variant MELA-AU 8 56850364 56850364 single base substitution C T upstream_gene_variant MELA-AU 8 56850476 56850476 single base substitution G A intron_variant MELA-AU 8 56850476 56850476 single base substitution G A upstream_gene_variant MELA-AU 8 56850591 56850591 single base substitution C T intron_variant MELA-AU 8 56850591 56850591 single base substitution C T upstream_gene_variant MELA-AU 8 56851023 56851023 single base substitution C T intron_variant MELA-AU 8 56851023 56851023 single base substitution C T upstream_gene_variant MELA-AU 8 56851100 56851100 single base substitution G A intron_variant MELA-AU 8 56851100 56851100 single base substitution G A upstream_gene_variant MELA-AU 8 56851404 56851404 single base substitution C T intron_variant MELA-AU 8 56851404 56851404 single base substitution C T upstream_gene_variant MELA-AU 8 56851572 56851572 single base substitution G A intron_variant MELA-AU 8 56851572 56851572 single base substitution G A upstream_gene_variant MELA-AU 8 56851681 56851681 single base substitution A T intron_variant MELA-AU 8 56851681 56851681 single base substitution A T upstream_gene_variant MELA-AU 8 56851749 56851749 single base substitution G A intron_variant MELA-AU 8 56851749 56851749 single base substitution G A upstream_gene_variant MELA-AU 8 56851863 56851863 single base substitution C T intron_variant MELA-AU 8 56851863 56851863 single base substitution C T upstream_gene_variant MELA-AU 8 56852013 56852013 single base substitution C T intron_variant MELA-AU 8 56852013 56852013 single base substitution C T upstream_gene_variant MELA-AU 8 56852111 56852111 single base substitution C T intron_variant MELA-AU 8 56852111 56852111 single base substitution C T upstream_gene_variant MELA-AU 8 56852174 56852174 single base substitution C G intron_variant MELA-AU 8 56852174 56852174 single base substitution C G upstream_gene_variant MELA-AU 8 56852189 56852189 single base substitution G T intron_variant MELA-AU 8 56852189 56852189 single base substitution G T upstream_gene_variant MELA-AU 8 56852326 56852326 single base substitution C T intron_variant MELA-AU 8 56852326 56852326 single base substitution C T upstream_gene_variant MELA-AU 8 56852357 56852357 single base substitution G A intron_variant MELA-AU 8 56852357 56852357 single base substitution G A upstream_gene_variant MELA-AU 8 56852602 56852602 single base substitution G A intron_variant MELA-AU 8 56852602 56852602 single base substitution G A upstream_gene_variant MELA-AU 8 56852690 56852690 single base substitution C T intron_variant MELA-AU 8 56852690 56852690 single base substitution C T upstream_gene_variant MELA-AU 8 56853644 56853644 single base substitution C T intron_variant MELA-AU 8 56853806 56853806 single base substitution G A intron_variant MELA-AU 8 56853856 56853856 single base substitution C T intron_variant MELA-AU 8 56853865 56853865 single base substitution T A intron_variant MELA-AU 8 56853940 56853941 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 8 56853943 56853943 single base substitution C T intron_variant MELA-AU 8 56854028 56854028 single base substitution C T intron_variant MELA-AU 8 56854578 56854578 single base substitution C T intron_variant MELA-AU 8 56854990 56854990 single base substitution A G intron_variant MELA-AU 8 56855371 56855371 single base substitution G A intron_variant MELA-AU 8 56855876 56855876 single base substitution C T intron_variant MELA-AU 8 56856039 56856039 single base substitution G A intron_variant MELA-AU 8 56856058 56856059 multiple base substitution (>=2bp and <=200bp) CC GT intron_variant MELA-AU 8 56856072 56856072 single base substitution T C intron_variant MELA-AU 8 56856341 56856341 single base substitution T G intron_variant MELA-AU 8 56856637 56856637 single base substitution G A intron_variant MELA-AU 8 56856818 56856818 single base substitution C T intron_variant MELA-AU 8 56856896 56856896 single base substitution G A intron_variant MELA-AU 8 56857024 56857024 single base substitution C T intron_variant MELA-AU 8 56857265 56857265 single base substitution C T intron_variant MELA-AU 8 56857291 56857291 single base substitution C T intron_variant MELA-AU 8 56857450 56857450 single base substitution T A intron_variant MELA-AU 8 56857954 56857954 single base substitution C T intron_variant MELA-AU 8 56858075 56858075 single base substitution C T intron_variant MELA-AU 8 56858268 56858268 single base substitution C T intron_variant MELA-AU 8 56858325 56858325 single base substitution C T intron_variant MELA-AU 8 56858371 56858371 single base substitution G A intron_variant MELA-AU 8 56858485 56858485 single base substitution C T intron_variant MELA-AU 8 56858695 56858695 single base substitution C G intron_variant MELA-AU 8 56858867 56858867 single base substitution C T intron_variant MELA-AU 8 56858953 56858956 deletion of <=200bp GTGA - intron_variant MELA-AU 8 56859243 56859243 single base substitution C T intron_variant MELA-AU 8 56859554 56859554 single base substitution C T intron_variant MELA-AU 8 56859669 56859669 single base substitution G C intron_variant MELA-AU 8 56859680 56859680 single base substitution C T intron_variant MELA-AU 8 56859777 56859777 single base substitution C T intron_variant MELA-AU 8 56859803 56859803 single base substitution C T intron_variant MELA-AU 8 56859870 56859870 single base substitution A G intron_variant MELA-AU 8 56860084 56860084 single base substitution T A intron_variant MELA-AU 8 56860313 56860313 single base substitution C T intron_variant MELA-AU 8 56860361 56860361 single base substitution C T intron_variant MELA-AU 8 56860383 56860383 single base substitution G A intron_variant MELA-AU 8 56860458 56860458 single base substitution G A intron_variant MELA-AU 8 56861004 56861004 single base substitution G A intron_variant MELA-AU 8 56861056 56861056 single base substitution G C intron_variant MELA-AU 8 56861253 56861253 single base substitution C T intron_variant MELA-AU 8 56861290 56861290 single base substitution G C intron_variant MELA-AU 8 56861305 56861305 single base substitution C T intron_variant MELA-AU 8 56861708 56861708 single base substitution C T intron_variant MELA-AU 8 56862032 56862032 single base substitution C T intron_variant MELA-AU 8 56862310 56862310 single base substitution C T intron_variant MELA-AU 8 56862454 56862454 single base substitution G A intron_variant MELA-AU 8 56862502 56862502 single base substitution G A intron_variant MELA-AU 8 56863018 56863018 single base substitution G A splice_region_variant MELA-AU 8 56863018 56863018 single base substitution G A upstream_gene_variant MELA-AU 8 56863058 56863058 single base substitution A C missense_variant K109Q 325A>C MELA-AU 8 56863058 56863058 single base substitution A C missense_variant K88Q 262A>C MELA-AU 8 56863058 56863058 single base substitution A C upstream_gene_variant MELA-AU 8 56863323 56863323 single base substitution G C downstream_gene_variant MELA-AU 8 56863323 56863323 single base substitution G C missense_variant R135T 404G>C MELA-AU 8 56863323 56863323 single base substitution G C missense_variant R156T 467G>C MELA-AU 8 56863323 56863323 single base substitution G C upstream_gene_variant MELA-AU 8 56863443 56863443 single base substitution G T downstream_gene_variant MELA-AU 8 56863443 56863443 single base substitution G T intron_variant MELA-AU 8 56863443 56863443 single base substitution G T upstream_gene_variant MELA-AU 8 56863598 56863598 single base substitution T G downstream_gene_variant MELA-AU 8 56863598 56863598 single base substitution T G intron_variant MELA-AU 8 56863598 56863598 single base substitution T G upstream_gene_variant MELA-AU 8 56863756 56863756 single base substitution C T downstream_gene_variant MELA-AU 8 56863756 56863756 single base substitution C T intron_variant MELA-AU 8 56863756 56863756 single base substitution C T upstream_gene_variant MELA-AU 8 56864299 56864299 single base substitution C T downstream_gene_variant MELA-AU 8 56864299 56864299 single base substitution C T intron_variant MELA-AU 8 56864299 56864299 single base substitution C T upstream_gene_variant MELA-AU 8 56864641 56864641 single base substitution C T downstream_gene_variant MELA-AU 8 56864641 56864641 single base substitution C T missense_variant P181S 541C>T MELA-AU 8 56864641 56864641 single base substitution C T missense_variant P202S 604C>T MELA-AU 8 56864641 56864641 single base substitution C T upstream_gene_variant MELA-AU 8 56865023 56865023 single base substitution G C downstream_gene_variant MELA-AU 8 56865023 56865023 single base substitution G C intron_variant MELA-AU 8 56865023 56865023 single base substitution G C upstream_gene_variant MELA-AU 8 56865521 56865521 single base substitution A G downstream_gene_variant MELA-AU 8 56865521 56865521 single base substitution A G intron_variant MELA-AU 8 56865521 56865521 single base substitution A G upstream_gene_variant MELA-AU 8 56865541 56865541 single base substitution C T downstream_gene_variant MELA-AU 8 56865541 56865541 single base substitution C T intron_variant MELA-AU 8 56865541 56865541 single base substitution C T upstream_gene_variant MELA-AU 8 56865557 56865557 single base substitution C T downstream_gene_variant MELA-AU 8 56865557 56865557 single base substitution C T intron_variant MELA-AU 8 56865557 56865557 single base substitution C T upstream_gene_variant MELA-AU 8 56865620 56865620 single base substitution G A downstream_gene_variant MELA-AU 8 56865620 56865620 single base substitution G A intron_variant MELA-AU 8 56865620 56865620 single base substitution G A upstream_gene_variant MELA-AU 8 56866123 56866123 single base substitution C T downstream_gene_variant MELA-AU 8 56866123 56866123 single base substitution C T intron_variant MELA-AU 8 56866123 56866123 single base substitution C T upstream_gene_variant MELA-AU 8 56866139 56866139 single base substitution G A downstream_gene_variant MELA-AU 8 56866139 56866139 single base substitution G A intron_variant MELA-AU 8 56866139 56866139 single base substitution G A upstream_gene_variant MELA-AU 8 56866370 56866370 single base substitution C T downstream_gene_variant MELA-AU 8 56866370 56866370 single base substitution C T intron_variant MELA-AU 8 56866370 56866370 single base substitution C T upstream_gene_variant MELA-AU 8 56866377 56866377 single base substitution C T downstream_gene_variant MELA-AU 8 56866377 56866377 single base substitution C T intron_variant MELA-AU 8 56866377 56866377 single base substitution C T upstream_gene_variant MELA-AU 8 56866439 56866439 single base substitution C T downstream_gene_variant MELA-AU 8 56866439 56866439 single base substitution C T missense_variant P208L 623C>T MELA-AU 8 56866439 56866439 single base substitution C T missense_variant P229L 686C>T MELA-AU 8 56866439 56866439 single base substitution C T upstream_gene_variant MELA-AU 8 56866561 56866561 single base substitution G A downstream_gene_variant MELA-AU 8 56866561 56866561 single base substitution G A intron_variant MELA-AU 8 56866561 56866561 single base substitution G A upstream_gene_variant MELA-AU 8 56866677 56866677 single base substitution T G downstream_gene_variant MELA-AU 8 56866677 56866677 single base substitution T G intron_variant MELA-AU 8 56866677 56866677 single base substitution T G upstream_gene_variant MELA-AU 8 56866723 56866723 single base substitution C T downstream_gene_variant MELA-AU 8 56866723 56866723 single base substitution C T intron_variant MELA-AU 8 56866723 56866723 single base substitution C T upstream_gene_variant MELA-AU 8 56866873 56866873 single base substitution C T downstream_gene_variant MELA-AU 8 56866873 56866873 single base substitution C T intron_variant MELA-AU 8 56866873 56866873 single base substitution C T upstream_gene_variant MELA-AU 8 56867067 56867067 single base substitution C T downstream_gene_variant MELA-AU 8 56867067 56867067 single base substitution C T intron_variant MELA-AU 8 56867067 56867067 single base substitution C T upstream_gene_variant MELA-AU 8 56867355 56867355 single base substitution C T downstream_gene_variant MELA-AU 8 56867355 56867355 single base substitution C T intron_variant MELA-AU 8 56867355 56867355 single base substitution C T upstream_gene_variant MELA-AU 8 56867610 56867610 single base substitution G A downstream_gene_variant MELA-AU 8 56867610 56867610 single base substitution G A intron_variant MELA-AU 8 56867610 56867610 single base substitution G A upstream_gene_variant MELA-AU 8 56867749 56867749 single base substitution C T downstream_gene_variant MELA-AU 8 56867749 56867749 single base substitution C T exon_variant MELA-AU 8 56867749 56867749 single base substitution C T intron_variant MELA-AU 8 56867779 56867779 single base substitution C T downstream_gene_variant MELA-AU 8 56867779 56867779 single base substitution C T exon_variant MELA-AU 8 56867779 56867779 single base substitution C T intron_variant MELA-AU 8 56867917 56867917 single base substitution C T downstream_gene_variant MELA-AU 8 56867917 56867917 single base substitution C T intron_variant MELA-AU 8 56867978 56867978 single base substitution C T downstream_gene_variant MELA-AU 8 56867978 56867978 single base substitution C T intron_variant MELA-AU 8 56868241 56868241 single base substitution C T downstream_gene_variant MELA-AU 8 56868241 56868241 single base substitution C T intron_variant MELA-AU 8 56868253 56868254 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 8 56868253 56868254 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 8 56868360 56868360 single base substitution C T intron_variant MELA-AU 8 56868641 56868641 single base substitution C T intron_variant MELA-AU 8 56868669 56868669 single base substitution T A intron_variant MELA-AU 8 56869028 56869028 single base substitution C T intron_variant MELA-AU 8 56869278 56869278 single base substitution C T intron_variant MELA-AU 8 56869296 56869296 single base substitution G A intron_variant MELA-AU 8 56869370 56869370 single base substitution C T intron_variant MELA-AU 8 56869457 56869457 single base substitution G A intron_variant MELA-AU 8 56869620 56869620 single base substitution G A intron_variant MELA-AU 8 56870259 56870259 single base substitution C T intron_variant MELA-AU 8 56870725 56870725 single base substitution G A intron_variant MELA-AU 8 56871185 56871185 single base substitution G A intron_variant MELA-AU 8 56871420 56871420 single base substitution G A intron_variant MELA-AU 8 56872124 56872124 single base substitution G A intron_variant MELA-AU 8 56872128 56872128 single base substitution C T intron_variant MELA-AU 8 56872409 56872409 single base substitution G A intron_variant MELA-AU 8 56872614 56872614 single base substitution C T intron_variant MELA-AU 8 56873103 56873103 single base substitution C T intron_variant MELA-AU 8 56873154 56873154 single base substitution C T intron_variant MELA-AU 8 56873349 56873349 single base substitution A C intron_variant MELA-AU 8 56873520 56873520 single base substitution C G intron_variant MELA-AU 8 56873564 56873564 single base substitution T A intron_variant MELA-AU 8 56873567 56873567 single base substitution C T intron_variant MELA-AU 8 56873904 56873904 single base substitution C T intron_variant MELA-AU 8 56873939 56873939 single base substitution G A intron_variant MELA-AU 8 56874004 56874004 single base substitution G A intron_variant MELA-AU 8 56874013 56874013 single base substitution C G intron_variant MELA-AU 8 56874120 56874120 single base substitution C T intron_variant MELA-AU 8 56874122 56874122 single base substitution T C intron_variant MELA-AU 8 56874197 56874197 single base substitution C T intron_variant MELA-AU 8 56874400 56874400 single base substitution T G intron_variant MELA-AU 8 56874595 56874595 single base substitution G A intron_variant MELA-AU 8 56874777 56874777 single base substitution G C intron_variant MELA-AU 8 56874812 56874812 single base substitution C T intron_variant MELA-AU 8 56875117 56875117 single base substitution G A intron_variant MELA-AU 8 56875363 56875363 single base substitution C T intron_variant MELA-AU 8 56875564 56875564 single base substitution G A intron_variant MELA-AU 8 56875637 56875637 single base substitution G A intron_variant MELA-AU 8 56875940 56875940 single base substitution A G intron_variant MELA-AU 8 56876378 56876378 single base substitution C T intron_variant MELA-AU 8 56876491 56876491 single base substitution G A intron_variant MELA-AU 8 56876550 56876551 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 8 56876672 56876672 single base substitution G A intron_variant MELA-AU 8 56876741 56876741 single base substitution C T intron_variant MELA-AU 8 56876776 56876776 single base substitution C T intron_variant MELA-AU 8 56877489 56877489 single base substitution C T intron_variant MELA-AU 8 56877623 56877623 single base substitution G A intron_variant MELA-AU 8 56877757 56877757 single base substitution C T intron_variant MELA-AU 8 56877806 56877806 single base substitution G A intron_variant MELA-AU 8 56878149 56878149 single base substitution C T intron_variant MELA-AU 8 56878463 56878463 single base substitution C T intron_variant MELA-AU 8 56878598 56878598 single base substitution C T intron_variant MELA-AU 8 56878616 56878616 single base substitution G A intron_variant MELA-AU 8 56878722 56878722 single base substitution C T intron_variant MELA-AU 8 56878918 56878918 single base substitution G A intron_variant MELA-AU 8 56879020 56879020 single base substitution G A intron_variant MELA-AU 8 56879146 56879146 single base substitution C T intron_variant MELA-AU 8 56879362 56879362 single base substitution C T exon_variant MELA-AU 8 56879362 56879362 single base substitution C T synonymous_variant L272L 816C>T MELA-AU 8 56879362 56879362 single base substitution C T synonymous_variant L293L 879C>T MELA-AU 8 56879571 56879571 single base substitution G A intron_variant MELA-AU 8 56879749 56879749 single base substitution T A intron_variant MELA-AU 8 56879756 56879756 single base substitution G T intron_variant MELA-AU 8 56879902 56879902 single base substitution C T intron_variant MELA-AU 8 56880352 56880352 single base substitution C T intron_variant MELA-AU 8 56880384 56880384 single base substitution C T intron_variant MELA-AU 8 56880624 56880624 single base substitution G T intron_variant MELA-AU 8 56881006 56881006 single base substitution G A intron_variant MELA-AU 8 56881324 56881324 single base substitution C T intron_variant MELA-AU 8 56881430 56881430 single base substitution G A intron_variant MELA-AU 8 56881671 56881671 single base substitution C T intron_variant MELA-AU 8 56881685 56881685 single base substitution G A intron_variant MELA-AU 8 56882149 56882149 single base substitution C T intron_variant MELA-AU 8 56882189 56882189 single base substitution C T intron_variant MELA-AU 8 56882267 56882267 single base substitution T G intron_variant MELA-AU 8 56882414 56882414 single base substitution C T intron_variant MELA-AU 8 56882421 56882421 single base substitution G A intron_variant MELA-AU 8 56882582 56882582 single base substitution C T intron_variant MELA-AU 8 56882804 56882804 single base substitution C T intron_variant MELA-AU 8 56882836 56882836 single base substitution C T intron_variant MELA-AU 8 56882877 56882877 single base substitution G A intron_variant MELA-AU 8 56883257 56883257 single base substitution G A intron_variant MELA-AU 8 56883994 56883994 single base substitution C T intron_variant MELA-AU 8 56884026 56884026 single base substitution G A intron_variant MELA-AU 8 56884088 56884088 single base substitution C T intron_variant MELA-AU 8 56884358 56884358 single base substitution C T intron_variant MELA-AU 8 56884503 56884503 single base substitution C T intron_variant MELA-AU 8 56884561 56884561 single base substitution G A intron_variant MELA-AU 8 56884656 56884656 single base substitution C T intron_variant MELA-AU 8 56884690 56884690 single base substitution G A intron_variant MELA-AU 8 56885465 56885465 single base substitution G A intron_variant MELA-AU 8 56885476 56885476 single base substitution G A intron_variant MELA-AU 8 56885719 56885719 single base substitution C T intron_variant MELA-AU 8 56886058 56886058 single base substitution C T intron_variant MELA-AU 8 56886393 56886393 single base substitution T C intron_variant MELA-AU 8 56886614 56886614 single base substitution C T intron_variant MELA-AU 8 56886834 56886834 single base substitution C T intron_variant MELA-AU 8 56887455 56887455 single base substitution C T intron_variant MELA-AU 8 56887513 56887513 single base substitution A T intron_variant MELA-AU 8 56887585 56887585 single base substitution C T intron_variant MELA-AU 8 56887655 56887655 single base substitution G A intron_variant MELA-AU 8 56887912 56887912 single base substitution G A intron_variant MELA-AU 8 56888007 56888007 single base substitution G A intron_variant MELA-AU 8 56888115 56888115 single base substitution A G intron_variant MELA-AU 8 56888121 56888121 single base substitution G A intron_variant MELA-AU 8 56888384 56888384 single base substitution G A intron_variant MELA-AU 8 56888550 56888550 single base substitution T C intron_variant MELA-AU 8 56888699 56888700 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 8 56888768 56888768 single base substitution C T intron_variant MELA-AU 8 56888805 56888805 single base substitution G A intron_variant MELA-AU 8 56888989 56888989 single base substitution C T intron_variant MELA-AU 8 56889267 56889267 single base substitution C T intron_variant MELA-AU 8 56889331 56889331 single base substitution G A intron_variant MELA-AU 8 56889332 56889332 single base substitution G A intron_variant MELA-AU 8 56889500 56889500 single base substitution T G intron_variant MELA-AU 8 56889782 56889782 single base substitution C T intron_variant MELA-AU 8 56890146 56890146 single base substitution G A intron_variant MELA-AU 8 56890686 56890686 single base substitution C T intron_variant MELA-AU 8 56891422 56891422 single base substitution C T intron_variant MELA-AU 8 56891489 56891489 single base substitution T C intron_variant MELA-AU 8 56891529 56891529 single base substitution C T intron_variant MELA-AU 8 56891593 56891593 single base substitution C T intron_variant MELA-AU 8 56892352 56892352 single base substitution C T intron_variant MELA-AU 8 56892739 56892739 single base substitution C T intron_variant MELA-AU 8 56893023 56893023 single base substitution C T intron_variant MELA-AU 8 56893203 56893203 single base substitution C T intron_variant MELA-AU 8 56893244 56893244 single base substitution C T intron_variant MELA-AU 8 56893499 56893499 single base substitution G A intron_variant MELA-AU 8 56893586 56893586 single base substitution C T intron_variant MELA-AU 8 56893609 56893609 single base substitution C T intron_variant MELA-AU 8 56893989 56893989 single base substitution C T intron_variant MELA-AU 8 56894183 56894183 single base substitution G A intron_variant MELA-AU 8 56894617 56894617 single base substitution G C intron_variant MELA-AU 8 56895096 56895096 single base substitution C T intron_variant MELA-AU 8 56895299 56895299 single base substitution C T intron_variant MELA-AU 8 56895529 56895529 single base substitution C T intron_variant MELA-AU 8 56895531 56895531 single base substitution C T intron_variant MELA-AU 8 56895783 56895783 single base substitution C T intron_variant MELA-AU 8 56895800 56895800 single base substitution C T intron_variant MELA-AU 8 56895817 56895817 single base substitution C T intron_variant MELA-AU 8 56895869 56895869 single base substitution G A intron_variant MELA-AU 8 56895969 56895969 single base substitution G A intron_variant MELA-AU 8 56896079 56896079 single base substitution C T intron_variant MELA-AU 8 56896092 56896092 single base substitution C T intron_variant MELA-AU 8 56896093 56896093 single base substitution C T intron_variant MELA-AU 8 56896297 56896297 single base substitution C T intron_variant MELA-AU 8 56896397 56896397 single base substitution G A intron_variant MELA-AU 8 56896617 56896617 single base substitution C T intron_variant MELA-AU 8 56896679 56896679 single base substitution G A intron_variant MELA-AU 8 56896718 56896718 single base substitution C T intron_variant MELA-AU 8 56896784 56896784 single base substitution C A intron_variant MELA-AU 8 56896785 56896785 single base substitution G A intron_variant MELA-AU 8 56896937 56896937 single base substitution C T intron_variant MELA-AU 8 56896944 56896944 single base substitution C T intron_variant MELA-AU 8 56897242 56897242 single base substitution C T intron_variant MELA-AU 8 56897294 56897294 single base substitution T C intron_variant MELA-AU 8 56897384 56897384 single base substitution G T intron_variant MELA-AU 8 56897574 56897574 single base substitution C T intron_variant MELA-AU 8 56897960 56897960 single base substitution A G intron_variant MELA-AU 8 56898133 56898133 single base substitution C T intron_variant MELA-AU 8 56898246 56898246 single base substitution C T intron_variant MELA-AU 8 56898255 56898255 single base substitution G A intron_variant MELA-AU 8 56898807 56898807 single base substitution C T intron_variant MELA-AU 8 56898900 56898900 single base substitution T G intron_variant MELA-AU 8 56899116 56899116 single base substitution C T intron_variant MELA-AU 8 56899388 56899388 single base substitution G A intron_variant MELA-AU 8 56899634 56899634 single base substitution C T intron_variant MELA-AU 8 56900034 56900034 single base substitution G A intron_variant MELA-AU 8 56900195 56900195 single base substitution G A intron_variant MELA-AU 8 56900226 56900226 single base substitution C T intron_variant MELA-AU 8 56900374 56900374 single base substitution C T intron_variant MELA-AU 8 56900698 56900698 single base substitution G A intron_variant MELA-AU 8 56901189 56901189 single base substitution C T intron_variant MELA-AU 8 56901292 56901292 single base substitution C T intron_variant MELA-AU 8 56901379 56901379 single base substitution C T intron_variant MELA-AU 8 56901557 56901557 single base substitution T C intron_variant MELA-AU 8 56901558 56901558 single base substitution C T intron_variant MELA-AU 8 56901902 56901902 single base substitution A G intron_variant MELA-AU 8 56902175 56902175 single base substitution G A intron_variant MELA-AU 8 56902209 56902209 single base substitution C T intron_variant MELA-AU 8 56902388 56902388 single base substitution G A intron_variant MELA-AU 8 56902527 56902527 single base substitution G A intron_variant MELA-AU 8 56903074 56903074 single base substitution C T intron_variant MELA-AU 8 56903134 56903134 single base substitution G A intron_variant MELA-AU 8 56903205 56903205 single base substitution T C intron_variant MELA-AU 8 56903388 56903388 single base substitution G A intron_variant MELA-AU 8 56903512 56903512 single base substitution C T intron_variant MELA-AU 8 56903730 56903730 single base substitution C T intron_variant MELA-AU 8 56903780 56903780 single base substitution C T intron_variant MELA-AU 8 56903809 56903809 single base substitution C T intron_variant MELA-AU 8 56904162 56904162 single base substitution C T intron_variant MELA-AU 8 56904363 56904363 single base substitution G A intron_variant MELA-AU 8 56904915 56904915 single base substitution C T intron_variant MELA-AU 8 56904958 56904958 single base substitution C T intron_variant MELA-AU 8 56905177 56905177 single base substitution T C intron_variant MELA-AU 8 56905408 56905408 single base substitution T A intron_variant MELA-AU 8 56905477 56905477 single base substitution C T intron_variant MELA-AU 8 56905570 56905570 single base substitution G A intron_variant MELA-AU 8 56905600 56905600 single base substitution C T intron_variant MELA-AU 8 56905695 56905695 single base substitution C T intron_variant MELA-AU 8 56905706 56905706 single base substitution G A intron_variant MELA-AU 8 56905754 56905754 single base substitution G A intron_variant MELA-AU 8 56905927 56905927 single base substitution A T intron_variant MELA-AU 8 56906036 56906036 single base substitution G A intron_variant MELA-AU 8 56906525 56906525 single base substitution C T intron_variant MELA-AU 8 56906627 56906627 single base substitution C T intron_variant MELA-AU 8 56907265 56907265 single base substitution T C intron_variant MELA-AU 8 56907434 56907434 single base substitution C T intron_variant MELA-AU 8 56907544 56907544 single base substitution C T intron_variant MELA-AU 8 56907643 56907643 single base substitution C T intron_variant MELA-AU 8 56907809 56907809 single base substitution G A intron_variant MELA-AU 8 56908029 56908029 single base substitution C T intron_variant MELA-AU 8 56908310 56908310 single base substitution C T intron_variant MELA-AU 8 56908339 56908339 single base substitution G A intron_variant MELA-AU 8 56908456 56908456 single base substitution G A intron_variant MELA-AU 8 56908673 56908673 single base substitution C T intron_variant MELA-AU 8 56908968 56908968 single base substitution C T intron_variant MELA-AU 8 56909037 56909037 single base substitution C T intron_variant MELA-AU 8 56909053 56909053 single base substitution C T intron_variant MELA-AU 8 56909166 56909166 single base substitution C T intron_variant MELA-AU 8 56909573 56909573 single base substitution C T intron_variant MELA-AU 8 56909795 56909795 single base substitution C T intron_variant MELA-AU 8 56909891 56909891 single base substitution C T intron_variant MELA-AU 8 56909974 56909975 multiple base substitution (>=2bp and <=200bp) CA TT intron_variant MELA-AU 8 56910051 56910051 single base substitution C T intron_variant MELA-AU 8 56910138 56910138 single base substitution C T intron_variant MELA-AU 8 56910207 56910207 single base substitution T A intron_variant MELA-AU 8 56910217 56910217 single base substitution G A intron_variant MELA-AU 8 56910675 56910675 single base substitution C T intron_variant MELA-AU 8 56910681 56910681 single base substitution T C intron_variant MELA-AU 8 56911530 56911530 single base substitution C T downstream_gene_variant MELA-AU 8 56911530 56911530 single base substitution C T intron_variant MELA-AU 8 56911628 56911628 single base substitution C T downstream_gene_variant MELA-AU 8 56911628 56911628 single base substitution C T intron_variant MELA-AU 8 56912414 56912414 single base substitution C T downstream_gene_variant MELA-AU 8 56912414 56912414 single base substitution C T intron_variant MELA-AU 8 56912806 56912806 single base substitution G A downstream_gene_variant MELA-AU 8 56912806 56912806 single base substitution G A intron_variant MELA-AU 8 56912846 56912846 single base substitution C T downstream_gene_variant MELA-AU 8 56912846 56912846 single base substitution C T intron_variant MELA-AU 8 56913112 56913112 single base substitution C T downstream_gene_variant MELA-AU 8 56913112 56913112 single base substitution C T intron_variant MELA-AU 8 56913158 56913158 single base substitution G A downstream_gene_variant MELA-AU 8 56913158 56913158 single base substitution G A intron_variant MELA-AU 8 56913326 56913326 single base substitution C T downstream_gene_variant MELA-AU 8 56913326 56913326 single base substitution C T intron_variant MELA-AU 8 56913595 56913595 single base substitution G A downstream_gene_variant MELA-AU 8 56913595 56913595 single base substitution G A intron_variant MELA-AU 8 56913965 56913965 single base substitution G A downstream_gene_variant MELA-AU 8 56913965 56913965 single base substitution G A intron_variant MELA-AU 8 56914459 56914459 single base substitution C T downstream_gene_variant MELA-AU 8 56914459 56914459 single base substitution C T intron_variant MELA-AU 8 56914965 56914965 single base substitution G A downstream_gene_variant MELA-AU 8 56914965 56914965 single base substitution G A intron_variant MELA-AU 8 56915017 56915017 single base substitution A G downstream_gene_variant MELA-AU 8 56915017 56915017 single base substitution A G intron_variant MELA-AU 8 56915273 56915273 single base substitution G A downstream_gene_variant MELA-AU 8 56915273 56915273 single base substitution G A intron_variant MELA-AU 8 56915319 56915319 single base substitution T G downstream_gene_variant MELA-AU 8 56915319 56915319 single base substitution T G intron_variant MELA-AU 8 56915583 56915583 single base substitution C T downstream_gene_variant MELA-AU 8 56915583 56915583 single base substitution C T intron_variant MELA-AU 8 56915649 56915649 single base substitution C T downstream_gene_variant MELA-AU 8 56915649 56915649 single base substitution C T intron_variant MELA-AU 8 56915721 56915721 single base substitution C T downstream_gene_variant MELA-AU 8 56915721 56915721 single base substitution C T intron_variant MELA-AU 8 56915874 56915875 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 8 56915874 56915875 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 8 56915936 56915936 single base substitution A C downstream_gene_variant MELA-AU 8 56915936 56915936 single base substitution A C intron_variant MELA-AU 8 56916021 56916021 single base substitution C T intron_variant MELA-AU 8 56916043 56916043 single base substitution G A intron_variant MELA-AU 8 56916259 56916259 single base substitution C T intron_variant MELA-AU 8 56916350 56916351 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 8 56916690 56916690 single base substitution C T intron_variant MELA-AU 8 56917347 56917347 single base substitution C T intron_variant MELA-AU 8 56917393 56917393 single base substitution G A intron_variant MELA-AU 8 56917612 56917612 single base substitution G A intron_variant MELA-AU 8 56918014 56918028 deletion of <=200bp CTGGCCTCCCTCCCT - intron_variant MELA-AU 8 56918161 56918161 single base substitution C T intron_variant MELA-AU 8 56918224 56918224 single base substitution C T intron_variant MELA-AU 8 56918282 56918282 single base substitution G A intron_variant MELA-AU 8 56918577 56918577 single base substitution G A intron_variant MELA-AU 8 56918776 56918776 single base substitution A G intron_variant MELA-AU 8 56918855 56918855 single base substitution G A intron_variant MELA-AU 8 56919464 56919464 single base substitution G A intron_variant MELA-AU 8 56920049 56920049 single base substitution G A intron_variant MELA-AU 8 56920235 56920235 single base substitution C T intron_variant MELA-AU 8 56920402 56920402 single base substitution G A intron_variant MELA-AU 8 56920441 56920441 single base substitution G A intron_variant MELA-AU 8 56920632 56920632 single base substitution C T intron_variant MELA-AU 8 56920858 56920858 single base substitution C T intron_variant MELA-AU 8 56921532 56921532 single base substitution C T intron_variant MELA-AU 8 56921853 56921853 single base substitution C T intron_variant MELA-AU 8 56921937 56921937 single base substitution C T intron_variant MELA-AU 8 56922019 56922019 single base substitution C T intron_variant MELA-AU 8 56922183 56922183 single base substitution C T intron_variant MELA-AU 8 56922202 56922202 single base substitution C T intron_variant MELA-AU 8 56922330 56922330 single base substitution C T intron_variant MELA-AU 8 56923201 56923201 single base substitution C T 3_prime_UTR_variant MELA-AU 8 56923201 56923201 single base substitution C T downstream_gene_variant MELA-AU 8 56923371 56923371 single base substitution C T 3_prime_UTR_variant MELA-AU 8 56923371 56923371 single base substitution C T downstream_gene_variant MELA-AU 8 56923449 56923449 single base substitution G A 3_prime_UTR_variant MELA-AU 8 56923449 56923449 single base substitution G A downstream_gene_variant MELA-AU 8 56923460 56923460 single base substitution A G 3_prime_UTR_variant MELA-AU 8 56923460 56923460 single base substitution A G downstream_gene_variant MELA-AU 8 56923670 56923670 single base substitution G A 3_prime_UTR_variant MELA-AU 8 56923670 56923670 single base substitution G A downstream_gene_variant MELA-AU 8 56923966 56923966 single base substitution A G downstream_gene_variant MELA-AU 8 56924079 56924079 single base substitution G A downstream_gene_variant MELA-AU 8 56924372 56924372 single base substitution T A downstream_gene_variant MELA-AU 8 56924453 56924453 single base substitution G A downstream_gene_variant MELA-AU 8 56924533 56924533 single base substitution T G downstream_gene_variant MELA-AU 8 56924925 56924925 single base substitution C T downstream_gene_variant MELA-AU 8 56924926 56924926 single base substitution C T downstream_gene_variant MELA-AU 8 56924936 56924936 single base substitution G A downstream_gene_variant MELA-AU 8 56925231 56925231 single base substitution T G downstream_gene_variant MELA-AU 8 56925287 56925287 single base substitution C T downstream_gene_variant MELA-AU 8 56925453 56925453 single base substitution C T downstream_gene_variant MELA-AU 8 56925543 56925543 single base substitution C T downstream_gene_variant MELA-AU 8 56925719 56925719 single base substitution G T downstream_gene_variant MELA-AU 8 56926050 56926050 single base substitution G A downstream_gene_variant MELA-AU 8 56926420 56926420 single base substitution C T downstream_gene_variant MELA-AU 8 56926851 56926851 single base substitution G C downstream_gene_variant MELA-AU 8 56927191 56927191 single base substitution C T downstream_gene_variant MELA-AU 8 56927709 56927709 single base substitution C T downstream_gene_variant MELA-AU 8 56927954 56927954 single base substitution T C downstream_gene_variant MELA-AU 8 56927972 56927972 single base substitution G A downstream_gene_variant MELA-AU 8 56927998 56927998 insertion of <=200bp - TTGTT downstream_gene_variant MELA-AU 8 56928091 56928091 single base substitution G A downstream_gene_variant MELA-AU 8 56928423 56928424 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 8 56928544 56928544 single base substitution G A downstream_gene_variant MELA-AU 8 56928589 56928589 single base substitution C T downstream_gene_variant MELA-AU 8 56928645 56928645 single base substitution C T downstream_gene_variant MELA-AU 8 56928719 56928719 single base substitution G A downstream_gene_variant MELA-AU 8 56928751 56928751 single base substitution C T downstream_gene_variant MELA-AU 8 56928826 56928826 single base substitution C T downstream_gene_variant MELA-AU 8 56928841 56928841 single base substitution C T downstream_gene_variant ORCA-IN 8 56788796 56788796 single base substitution C T upstream_gene_variant ORCA-IN 8 56810941 56810941 single base substitution G A intron_variant ORCA-IN 8 56846558 56846558 single base substitution G A intron_variant ORCA-IN 8 56855002 56855002 single base substitution G A intron_variant ORCA-IN 8 56883921 56883921 single base substitution G C intron_variant OV-AU 8 56791931 56791931 single base substitution A T upstream_gene_variant OV-AU 8 56792913 56792913 single base substitution C T intron_variant OV-AU 8 56794795 56794795 single base substitution T G intron_variant OV-AU 8 56798637 56798637 single base substitution G A intron_variant OV-AU 8 56812833 56812833 single base substitution A G intron_variant OV-AU 8 56815930 56815930 single base substitution A G intron_variant OV-AU 8 56818126 56818126 single base substitution A G intron_variant OV-AU 8 56824551 56824551 single base substitution C A intron_variant OV-AU 8 56826335 56826335 single base substitution T C intron_variant OV-AU 8 56828725 56828725 single base substitution T A intron_variant OV-AU 8 56835261 56835261 single base substitution G C intron_variant OV-AU 8 56835262 56835262 single base substitution G T intron_variant OV-AU 8 56835427 56835427 single base substitution A T intron_variant OV-AU 8 56836628 56836628 single base substitution T C intron_variant OV-AU 8 56836689 56836689 single base substitution G A intron_variant OV-AU 8 56837750 56837750 single base substitution C T intron_variant OV-AU 8 56846097 56846097 single base substitution G C intron_variant OV-AU 8 56846991 56846991 single base substitution A G intron_variant OV-AU 8 56849150 56849150 single base substitution G T intron_variant OV-AU 8 56849150 56849150 single base substitution G T upstream_gene_variant OV-AU 8 56854992 56854992 single base substitution G A intron_variant OV-AU 8 56854994 56854994 single base substitution G A intron_variant OV-AU 8 56857101 56857101 single base substitution A T intron_variant OV-AU 8 56857633 56857633 single base substitution G A intron_variant OV-AU 8 56862208 56862208 single base substitution G T intron_variant OV-AU 8 56878376 56878376 single base substitution A C intron_variant OV-AU 8 56879273 56879273 single base substitution G T splice_acceptor_variant OV-AU 8 56883624 56883624 single base substitution A C intron_variant OV-AU 8 56887792 56887792 single base substitution G T intron_variant OV-AU 8 56896095 56896095 single base substitution A C intron_variant OV-AU 8 56898963 56898963 single base substitution C T intron_variant OV-AU 8 56899578 56899578 single base substitution G A intron_variant OV-AU 8 56901739 56901739 single base substitution A C intron_variant OV-AU 8 56902771 56902771 single base substitution C G intron_variant OV-AU 8 56907300 56907300 single base substitution T C intron_variant OV-AU 8 56908489 56908489 single base substitution A T intron_variant OV-AU 8 56914723 56914723 single base substitution C G downstream_gene_variant OV-AU 8 56914723 56914723 single base substitution C G intron_variant OV-AU 8 56916340 56916340 single base substitution C A intron_variant OV-AU 8 56919661 56919661 single base substitution G T intron_variant OV-AU 8 56920102 56920102 single base substitution G C intron_variant OV-US 8 56879390 56879390 single base substitution G C exon_variant OV-US 8 56879390 56879390 single base substitution G C missense_variant V282L 844G>C OV-US 8 56879390 56879390 single base substitution G C missense_variant V303L 907G>C PACA-AU 8 56793578 56793578 single base substitution T C intron_variant PACA-AU 8 56793593 56793593 deletion of <=200bp T - intron_variant PACA-AU 8 56795786 56795786 single base substitution C A intron_variant PACA-AU 8 56798591 56798591 single base substitution G T intron_variant PACA-AU 8 56804017 56804017 single base substitution A C intron_variant PACA-AU 8 56807108 56807108 single base substitution T G intron_variant PACA-AU 8 56807682 56807682 single base substitution A C intron_variant PACA-AU 8 56808227 56808227 single base substitution T A intron_variant PACA-AU 8 56817501 56817501 single base substitution G A intron_variant PACA-AU 8 56827025 56827025 single base substitution C T intron_variant PACA-AU 8 56827817 56827817 single base substitution A G intron_variant PACA-AU 8 56830855 56830855 deletion of <=200bp T - intron_variant PACA-AU 8 56835864 56835864 single base substitution C T intron_variant PACA-AU 8 56837189 56837189 single base substitution C T intron_variant PACA-AU 8 56838879 56838879 single base substitution A G intron_variant PACA-AU 8 56839818 56839818 single base substitution C T intron_variant PACA-AU 8 56844969 56844969 single base substitution A T intron_variant PACA-AU 8 56844988 56844988 single base substitution T G intron_variant PACA-AU 8 56845967 56845967 single base substitution C T intron_variant PACA-AU 8 56848778 56848778 single base substitution C T intron_variant PACA-AU 8 56848778 56848778 single base substitution C T upstream_gene_variant PACA-AU 8 56852377 56852377 single base substitution C T intron_variant PACA-AU 8 56852377 56852377 single base substitution C T upstream_gene_variant PACA-AU 8 56852432 56852432 single base substitution T C intron_variant PACA-AU 8 56852432 56852432 single base substitution T C upstream_gene_variant PACA-AU 8 56852974 56852974 single base substitution G A intron_variant PACA-AU 8 56853225 56853225 single base substitution G A intron_variant PACA-AU 8 56858290 56858290 deletion of <=200bp C - intron_variant PACA-AU 8 56858651 56858651 single base substitution C T intron_variant PACA-AU 8 56859539 56859539 single base substitution G C intron_variant PACA-AU 8 56867395 56867398 deletion of <=200bp AAAT - downstream_gene_variant PACA-AU 8 56867395 56867398 deletion of <=200bp AAAT - intron_variant PACA-AU 8 56867395 56867398 deletion of <=200bp AAAT - upstream_gene_variant PACA-AU 8 56871636 56871636 single base substitution C T intron_variant PACA-AU 8 56883010 56883010 single base substitution G A intron_variant PACA-AU 8 56885845 56885845 single base substitution G C intron_variant PACA-AU 8 56893639 56893639 single base substitution G T intron_variant PACA-AU 8 56893986 56893986 single base substitution T A intron_variant PACA-AU 8 56895134 56895134 single base substitution G A intron_variant PACA-AU 8 56898523 56898523 single base substitution C T intron_variant PACA-AU 8 56912222 56912222 single base substitution G C downstream_gene_variant PACA-AU 8 56912222 56912222 single base substitution G C intron_variant PACA-AU 8 56915702 56915702 single base substitution C T downstream_gene_variant PACA-AU 8 56915702 56915702 single base substitution C T intron_variant PACA-AU 8 56919440 56919440 single base substitution C T intron_variant PACA-AU 8 56920683 56920683 insertion of <=200bp - AAAAAAAAAT intron_variant PACA-AU 8 56923599 56923599 single base substitution T G 3_prime_UTR_variant PACA-AU 8 56923599 56923599 single base substitution T G downstream_gene_variant PACA-AU 8 56927587 56927587 single base substitution T A downstream_gene_variant PACA-AU 8 56928184 56928184 single base substitution A T downstream_gene_variant PACA-CA 8 56791833 56791833 single base substitution G A upstream_gene_variant PACA-CA 8 56798478 56798478 single base substitution C T intron_variant PACA-CA 8 56799403 56799403 single base substitution C T intron_variant PACA-CA 8 56800162 56800162 single base substitution C T intron_variant PACA-CA 8 56801118 56801118 single base substitution A G intron_variant PACA-CA 8 56803585 56803585 single base substitution G A intron_variant PACA-CA 8 56805829 56805829 single base substitution A G intron_variant PACA-CA 8 56808198 56808198 single base substitution A T intron_variant PACA-CA 8 56808344 56808344 single base substitution C T intron_variant PACA-CA 8 56813711 56813711 deletion of <=200bp T - intron_variant PACA-CA 8 56816270 56816270 single base substitution C G intron_variant PACA-CA 8 56819121 56819121 single base substitution G T intron_variant PACA-CA 8 56820474 56820474 single base substitution A T intron_variant PACA-CA 8 56820960 56820960 single base substitution C T intron_variant PACA-CA 8 56821569 56821569 single base substitution T C intron_variant PACA-CA 8 56821842 56821842 insertion of <=200bp - CTG intron_variant PACA-CA 8 56821884 56821884 single base substitution C G intron_variant PACA-CA 8 56823340 56823340 single base substitution C T intron_variant PACA-CA 8 56825561 56825565 deletion of <=200bp ATTAA - intron_variant PACA-CA 8 56827516 56827516 single base substitution C T intron_variant PACA-CA 8 56830630 56830630 single base substitution G T intron_variant PACA-CA 8 56835706 56835706 single base substitution A T intron_variant PACA-CA 8 56835900 56835900 single base substitution C T intron_variant PACA-CA 8 56836637 56836637 single base substitution A T intron_variant PACA-CA 8 56836865 56836865 single base substitution C G intron_variant PACA-CA 8 56841241 56841241 single base substitution G T intron_variant PACA-CA 8 56842762 56842762 single base substitution T A intron_variant PACA-CA 8 56843532 56843532 single base substitution C T intron_variant PACA-CA 8 56854929 56854942 deletion of <=200bp TATATATATGTGTA - intron_variant PACA-CA 8 56860182 56860182 single base substitution G T stop_gained E41* 121G>T PACA-CA 8 56860182 56860182 single base substitution G T stop_gained E62* 184G>T PACA-CA 8 56861044 56861044 single base substitution C T intron_variant PACA-CA 8 56863270 56863270 single base substitution C T synonymous_variant D117D 351C>T PACA-CA 8 56863270 56863270 single base substitution C T synonymous_variant D138D 414C>T PACA-CA 8 56863270 56863270 single base substitution C T upstream_gene_variant PACA-CA 8 56868332 56868332 single base substitution T G intron_variant PACA-CA 8 56869588 56869588 single base substitution A T intron_variant PACA-CA 8 56877525 56877525 single base substitution C T intron_variant PACA-CA 8 56881676 56881676 insertion of <=200bp - A intron_variant PACA-CA 8 56885361 56885361 single base substitution C G intron_variant PACA-CA 8 56888184 56888184 single base substitution C T intron_variant PACA-CA 8 56889617 56889617 single base substitution G A intron_variant PACA-CA 8 56890370 56890370 single base substitution C T intron_variant PACA-CA 8 56894034 56894034 single base substitution C G intron_variant PACA-CA 8 56902101 56902101 single base substitution G A intron_variant PACA-CA 8 56910636 56910636 single base substitution C G intron_variant PACA-CA 8 56912199 56912199 single base substitution C T downstream_gene_variant PACA-CA 8 56912199 56912199 single base substitution C T intron_variant PACA-CA 8 56912221 56912221 single base substitution T G downstream_gene_variant PACA-CA 8 56912221 56912221 single base substitution T G intron_variant PACA-CA 8 56914870 56914870 single base substitution C T downstream_gene_variant PACA-CA 8 56914870 56914870 single base substitution C T intron_variant PACA-CA 8 56918176 56918176 single base substitution T A intron_variant PACA-CA 8 56918316 56918316 single base substitution G A intron_variant PACA-CA 8 56928710 56928710 single base substitution C T downstream_gene_variant PAEN-AU 8 56787650 56787650 single base substitution C T upstream_gene_variant PAEN-AU 8 56820242 56820242 single base substitution A T intron_variant PAEN-AU 8 56830281 56830281 single base substitution C T intron_variant PAEN-AU 8 56830958 56830958 single base substitution G A intron_variant PAEN-AU 8 56833881 56833881 single base substitution G T intron_variant PAEN-AU 8 56845248 56845248 single base substitution G T intron_variant PAEN-AU 8 56878150 56878150 single base substitution G A intron_variant PAEN-AU 8 56882746 56882746 single base substitution T C intron_variant PAEN-AU 8 56885765 56885765 single base substitution G T intron_variant PAEN-AU 8 56909415 56909415 single base substitution G A intron_variant PAEN-IT 8 56812039 56812039 single base substitution G T intron_variant PAEN-IT 8 56818288 56818288 single base substitution C G intron_variant PAEN-IT 8 56834257 56834257 single base substitution G T intron_variant PAEN-IT 8 56919957 56919957 single base substitution C T intron_variant PBCA-DE 8 56796421 56796421 insertion of <=200bp - T intron_variant PBCA-DE 8 56805316 56805316 insertion of <=200bp - T intron_variant PBCA-DE 8 56813289 56813289 single base substitution G T intron_variant PBCA-DE 8 56818891 56818891 insertion of <=200bp - TTTTG intron_variant PBCA-DE 8 56829940 56829940 single base substitution G T intron_variant PBCA-DE 8 56831675 56831675 single base substitution C T intron_variant PBCA-DE 8 56835675 56835675 single base substitution T C intron_variant PBCA-DE 8 56836921 56836921 insertion of <=200bp - T intron_variant PBCA-DE 8 56837873 56837873 single base substitution C T intron_variant PBCA-DE 8 56848358 56848358 single base substitution C A intron_variant PBCA-DE 8 56848358 56848358 single base substitution C A upstream_gene_variant PBCA-DE 8 56852000 56852000 single base substitution C T intron_variant PBCA-DE 8 56852000 56852000 single base substitution C T upstream_gene_variant PBCA-DE 8 56852022 56852023 deletion of <=200bp AG - intron_variant PBCA-DE 8 56852022 56852023 deletion of <=200bp AG - upstream_gene_variant PBCA-DE 8 56855003 56855004 deletion of <=200bp TA - intron_variant PBCA-DE 8 56859979 56859979 single base substitution A G intron_variant PBCA-DE 8 56863457 56863457 single base substitution A G downstream_gene_variant PBCA-DE 8 56863457 56863457 single base substitution A G intron_variant PBCA-DE 8 56863457 56863457 single base substitution A G upstream_gene_variant PBCA-DE 8 56867666 56867666 single base substitution C G downstream_gene_variant PBCA-DE 8 56867666 56867666 single base substitution C G exon_variant PBCA-DE 8 56867666 56867666 single base substitution C G intron_variant PBCA-DE 8 56873688 56873688 single base substitution C T intron_variant PBCA-DE 8 56876759 56876759 single base substitution T C intron_variant PBCA-DE 8 56881210 56881210 single base substitution G A intron_variant PBCA-DE 8 56881677 56881677 insertion of <=200bp - A intron_variant PBCA-DE 8 56884487 56884487 single base substitution G T intron_variant PBCA-DE 8 56885465 56885465 single base substitution G C intron_variant PBCA-DE 8 56891286 56891286 single base substitution G A intron_variant PBCA-DE 8 56894806 56894806 single base substitution T A intron_variant PBCA-DE 8 56895641 56895641 single base substitution G T intron_variant PBCA-DE 8 56896030 56896030 single base substitution T A intron_variant PBCA-DE 8 56897672 56897672 single base substitution G A intron_variant PBCA-DE 8 56907177 56907177 single base substitution G T intron_variant PBCA-DE 8 56907506 56907506 single base substitution G T intron_variant PBCA-DE 8 56909411 56909411 single base substitution G A intron_variant PBCA-DE 8 56913057 56913057 single base substitution G C downstream_gene_variant PBCA-DE 8 56913057 56913057 single base substitution G C intron_variant PBCA-DE 8 56915164 56915164 insertion of <=200bp - AAATT downstream_gene_variant PBCA-DE 8 56915164 56915164 insertion of <=200bp - AAATT intron_variant PBCA-DE 8 56924349 56924349 single base substitution T G downstream_gene_variant PBCA-DE 8 56924956 56924956 single base substitution G T downstream_gene_variant PRAD-CA 8 56818497 56818497 single base substitution A T intron_variant PRAD-CA 8 56846928 56846928 single base substitution C T intron_variant PRAD-CA 8 56854938 56854938 single base substitution G A intron_variant PRAD-CA 8 56854942 56854942 single base substitution A G intron_variant PRAD-CA 8 56868744 56868744 single base substitution G A intron_variant PRAD-CA 8 56873029 56873029 single base substitution C T intron_variant PRAD-CA 8 56878386 56878386 single base substitution A G intron_variant PRAD-CA 8 56901376 56901376 single base substitution G T intron_variant PRAD-CA 8 56915866 56915866 single base substitution C T downstream_gene_variant PRAD-CA 8 56915866 56915866 single base substitution C T intron_variant PRAD-UK 8 56790185 56790185 single base substitution C T upstream_gene_variant PRAD-UK 8 56795366 56795366 single base substitution T C intron_variant PRAD-UK 8 56808536 56808536 single base substitution G T intron_variant PRAD-UK 8 56814292 56814292 single base substitution C T intron_variant PRAD-UK 8 56822763 56822763 deletion of <=200bp G - intron_variant PRAD-UK 8 56835800 56835800 single base substitution C T intron_variant PRAD-UK 8 56843081 56843081 single base substitution T G intron_variant PRAD-UK 8 56870463 56870463 single base substitution C T intron_variant PRAD-UK 8 56877805 56877805 single base substitution C T intron_variant PRAD-UK 8 56898636 56898636 single base substitution G T intron_variant PRAD-UK 8 56923683 56923683 single base substitution G C 3_prime_UTR_variant PRAD-UK 8 56923683 56923683 single base substitution G C downstream_gene_variant RECA-EU 8 56788801 56788801 single base substitution T C upstream_gene_variant RECA-EU 8 56795440 56795440 single base substitution A T intron_variant RECA-EU 8 56804240 56804240 single base substitution C A intron_variant RECA-EU 8 56807872 56807872 single base substitution C A intron_variant RECA-EU 8 56811346 56811346 single base substitution T C intron_variant RECA-EU 8 56812371 56812371 single base substitution G T intron_variant RECA-EU 8 56812519 56812519 single base substitution G T intron_variant RECA-EU 8 56812529 56812529 single base substitution G A intron_variant RECA-EU 8 56814408 56814408 single base substitution G A intron_variant RECA-EU 8 56825719 56825719 single base substitution G A intron_variant RECA-EU 8 56833737 56833737 single base substitution A T intron_variant RECA-EU 8 56852339 56852339 single base substitution G T intron_variant RECA-EU 8 56852339 56852339 single base substitution G T upstream_gene_variant RECA-EU 8 56854966 56854966 single base substitution A G intron_variant RECA-EU 8 56857593 56857593 single base substitution A T intron_variant RECA-EU 8 56867249 56867249 single base substitution C G downstream_gene_variant RECA-EU 8 56867249 56867249 single base substitution C G intron_variant RECA-EU 8 56867249 56867249 single base substitution C G upstream_gene_variant RECA-EU 8 56869776 56869776 single base substitution T C intron_variant RECA-EU 8 56872709 56872709 single base substitution G T intron_variant RECA-EU 8 56875175 56875175 single base substitution G T intron_variant RECA-EU 8 56881756 56881756 single base substitution T G intron_variant RECA-EU 8 56884994 56884994 single base substitution C T intron_variant RECA-EU 8 56886628 56886628 single base substitution T C intron_variant RECA-EU 8 56905335 56905335 single base substitution T A intron_variant RECA-EU 8 56909610 56909610 single base substitution C T intron_variant RECA-EU 8 56910473 56910473 single base substitution C G intron_variant RECA-EU 8 56912460 56912460 single base substitution G T downstream_gene_variant RECA-EU 8 56912460 56912460 single base substitution G T intron_variant RECA-EU 8 56921721 56921721 single base substitution A T intron_variant SKCA-BR 8 56787847 56787847 single base substitution G A upstream_gene_variant SKCA-BR 8 56788308 56788308 single base substitution G A upstream_gene_variant SKCA-BR 8 56788990 56788990 single base substitution G T upstream_gene_variant SKCA-BR 8 56789039 56789039 single base substitution G A upstream_gene_variant SKCA-BR 8 56790287 56790287 single base substitution G C upstream_gene_variant SKCA-BR 8 56798077 56798077 single base substitution C T intron_variant SKCA-BR 8 56800171 56800174 deletion of <=200bp ATAT - intron_variant SKCA-BR 8 56800917 56800917 single base substitution T G intron_variant SKCA-BR 8 56801450 56801450 single base substitution A G intron_variant SKCA-BR 8 56801555 56801555 single base substitution C T intron_variant SKCA-BR 8 56803927 56803927 single base substitution G A intron_variant SKCA-BR 8 56807095 56807096 deletion of <=200bp AT - intron_variant SKCA-BR 8 56807699 56807699 single base substitution T C intron_variant SKCA-BR 8 56808258 56808258 single base substitution C T intron_variant SKCA-BR 8 56809656 56809656 single base substitution G C intron_variant SKCA-BR 8 56812304 56812304 single base substitution G A intron_variant SKCA-BR 8 56814890 56814890 insertion of <=200bp - CT intron_variant SKCA-BR 8 56814894 56814894 single base substitution T C intron_variant SKCA-BR 8 56814898 56814898 single base substitution T C intron_variant SKCA-BR 8 56814929 56814929 single base substitution C T intron_variant SKCA-BR 8 56817973 56817982 deletion of <=200bp AAAAAGAAAG - intron_variant SKCA-BR 8 56819730 56819730 single base substitution C A intron_variant SKCA-BR 8 56821546 56821546 insertion of <=200bp - ATG intron_variant SKCA-BR 8 56821546 56821546 insertion of <=200bp - ATGTG intron_variant SKCA-BR 8 56821548 56821548 insertion of <=200bp - GTGTGTATA intron_variant SKCA-BR 8 56821550 56821550 single base substitution A G intron_variant SKCA-BR 8 56822542 56822542 single base substitution G A intron_variant SKCA-BR 8 56822552 56822552 single base substitution C T intron_variant SKCA-BR 8 56823087 56823087 single base substitution C T intron_variant SKCA-BR 8 56823614 56823614 single base substitution T C intron_variant SKCA-BR 8 56823635 56823637 deletion of <=200bp TAC - intron_variant SKCA-BR 8 56823642 56823642 single base substitution A G intron_variant SKCA-BR 8 56823649 56823649 single base substitution T G intron_variant SKCA-BR 8 56823657 56823657 single base substitution T C intron_variant SKCA-BR 8 56823721 56823721 single base substitution T C intron_variant SKCA-BR 8 56823816 56823816 insertion of <=200bp - GTA intron_variant SKCA-BR 8 56823839 56823844 deletion of <=200bp TATATA - intron_variant SKCA-BR 8 56825297 56825297 single base substitution C A intron_variant SKCA-BR 8 56828011 56828011 single base substitution C T intron_variant SKCA-BR 8 56835320 56835320 single base substitution C T intron_variant SKCA-BR 8 56836920 56836920 insertion of <=200bp - AT intron_variant SKCA-BR 8 56837170 56837170 single base substitution C A intron_variant SKCA-BR 8 56838024 56838024 single base substitution T G intron_variant SKCA-BR 8 56839453 56839453 single base substitution G A intron_variant SKCA-BR 8 56840314 56840314 single base substitution G T intron_variant SKCA-BR 8 56841254 56841254 single base substitution C T intron_variant SKCA-BR 8 56842679 56842679 single base substitution C T intron_variant SKCA-BR 8 56842870 56842870 single base substitution C T intron_variant SKCA-BR 8 56844972 56844972 insertion of <=200bp - TTTTG intron_variant SKCA-BR 8 56848216 56848216 single base substitution C T intron_variant SKCA-BR 8 56848216 56848216 single base substitution C T upstream_gene_variant SKCA-BR 8 56848323 56848323 single base substitution G A intron_variant SKCA-BR 8 56848323 56848323 single base substitution G A upstream_gene_variant SKCA-BR 8 56848338 56848338 insertion of <=200bp - CAAA intron_variant SKCA-BR 8 56848338 56848338 insertion of <=200bp - CAAA upstream_gene_variant SKCA-BR 8 56848538 56848538 single base substitution C T intron_variant SKCA-BR 8 56848538 56848538 single base substitution C T upstream_gene_variant SKCA-BR 8 56849235 56849235 single base substitution G A intron_variant SKCA-BR 8 56849235 56849235 single base substitution G A upstream_gene_variant SKCA-BR 8 56849809 56849809 single base substitution C T intron_variant SKCA-BR 8 56849809 56849809 single base substitution C T upstream_gene_variant SKCA-BR 8 56850005 56850005 single base substitution C T intron_variant SKCA-BR 8 56850005 56850005 single base substitution C T upstream_gene_variant SKCA-BR 8 56850378 56850378 single base substitution C T intron_variant SKCA-BR 8 56850378 56850378 single base substitution C T upstream_gene_variant SKCA-BR 8 56850620 56850620 single base substitution G T intron_variant SKCA-BR 8 56850620 56850620 single base substitution G T upstream_gene_variant SKCA-BR 8 56851049 56851049 single base substitution C T intron_variant SKCA-BR 8 56851049 56851049 single base substitution C T upstream_gene_variant SKCA-BR 8 56852091 56852091 insertion of <=200bp - TG intron_variant SKCA-BR 8 56852091 56852091 insertion of <=200bp - TG upstream_gene_variant SKCA-BR 8 56852883 56852883 single base substitution T C 5_prime_UTR_variant SKCA-BR 8 56852883 56852883 single base substitution T C intron_variant SKCA-BR 8 56854916 56854916 insertion of <=200bp - GTA intron_variant SKCA-BR 8 56854938 56854938 single base substitution G A intron_variant SKCA-BR 8 56854942 56854942 single base substitution A G intron_variant SKCA-BR 8 56855343 56855344 deletion of <=200bp CA - intron_variant SKCA-BR 8 56859072 56859072 single base substitution T G intron_variant SKCA-BR 8 56859313 56859313 single base substitution T C intron_variant SKCA-BR 8 56861669 56861669 single base substitution C A intron_variant SKCA-BR 8 56863793 56863793 single base substitution G T downstream_gene_variant SKCA-BR 8 56863793 56863793 single base substitution G T intron_variant SKCA-BR 8 56863793 56863793 single base substitution G T upstream_gene_variant SKCA-BR 8 56865391 56865391 single base substitution G A downstream_gene_variant SKCA-BR 8 56865391 56865391 single base substitution G A intron_variant SKCA-BR 8 56865391 56865391 single base substitution G A upstream_gene_variant SKCA-BR 8 56865963 56865963 single base substitution T C downstream_gene_variant SKCA-BR 8 56865963 56865963 single base substitution T C intron_variant SKCA-BR 8 56865963 56865963 single base substitution T C upstream_gene_variant SKCA-BR 8 56866229 56866229 single base substitution A C downstream_gene_variant SKCA-BR 8 56866229 56866229 single base substitution A C intron_variant SKCA-BR 8 56866229 56866229 single base substitution A C upstream_gene_variant SKCA-BR 8 56867394 56867394 insertion of <=200bp - AAAAT downstream_gene_variant SKCA-BR 8 56867394 56867394 insertion of <=200bp - AAAAT intron_variant SKCA-BR 8 56867394 56867394 insertion of <=200bp - AAAAT upstream_gene_variant SKCA-BR 8 56867945 56867945 single base substitution C T downstream_gene_variant SKCA-BR 8 56867945 56867945 single base substitution C T intron_variant SKCA-BR 8 56868478 56868478 single base substitution C T intron_variant SKCA-BR 8 56868769 56868769 single base substitution G T intron_variant SKCA-BR 8 56874017 56874017 single base substitution C T intron_variant SKCA-BR 8 56874732 56874732 single base substitution G A intron_variant SKCA-BR 8 56876661 56876661 single base substitution C T intron_variant SKCA-BR 8 56879178 56879178 single base substitution C T intron_variant SKCA-BR 8 56879768 56879768 single base substitution G A intron_variant SKCA-BR 8 56879887 56879891 deletion of <=200bp TTTTG - intron_variant SKCA-BR 8 56879889 56879891 deletion of <=200bp TTG - intron_variant SKCA-BR 8 56879891 56879891 single base substitution G T intron_variant SKCA-BR 8 56879965 56879965 single base substitution C T intron_variant SKCA-BR 8 56881440 56881440 single base substitution G A intron_variant SKCA-BR 8 56884439 56884439 single base substitution C T intron_variant SKCA-BR 8 56886813 56886813 single base substitution C T intron_variant SKCA-BR 8 56887346 56887346 single base substitution C T intron_variant SKCA-BR 8 56888348 56888348 single base substitution T A intron_variant SKCA-BR 8 56890564 56890564 single base substitution T A intron_variant SKCA-BR 8 56893875 56893875 single base substitution G A intron_variant SKCA-BR 8 56894714 56894714 single base substitution C T intron_variant SKCA-BR 8 56894723 56894723 single base substitution C T intron_variant SKCA-BR 8 56895202 56895202 single base substitution C T intron_variant SKCA-BR 8 56896091 56896091 single base substitution C T intron_variant SKCA-BR 8 56898752 56898752 single base substitution G C intron_variant SKCA-BR 8 56899110 56899110 single base substitution G A intron_variant SKCA-BR 8 56903677 56903677 single base substitution G A intron_variant SKCA-BR 8 56904026 56904026 single base substitution T A intron_variant SKCA-BR 8 56904244 56904244 single base substitution A G intron_variant SKCA-BR 8 56907045 56907045 single base substitution G A intron_variant SKCA-BR 8 56908287 56908287 single base substitution T G intron_variant SKCA-BR 8 56909101 56909101 single base substitution C T intron_variant SKCA-BR 8 56909718 56909718 insertion of <=200bp - CA intron_variant SKCA-BR 8 56910675 56910675 insertion of <=200bp - CT intron_variant SKCA-BR 8 56911800 56911800 single base substitution A G downstream_gene_variant SKCA-BR 8 56911800 56911800 single base substitution A G intron_variant SKCA-BR 8 56911892 56911892 single base substitution G A downstream_gene_variant SKCA-BR 8 56911892 56911892 single base substitution G A intron_variant SKCA-BR 8 56912652 56912652 single base substitution C T downstream_gene_variant SKCA-BR 8 56912652 56912652 single base substitution C T intron_variant SKCA-BR 8 56914985 56914986 deletion of <=200bp TA - downstream_gene_variant SKCA-BR 8 56914985 56914986 deletion of <=200bp TA - intron_variant SKCA-BR 8 56915344 56915344 single base substitution G T downstream_gene_variant SKCA-BR 8 56915344 56915344 single base substitution G T intron_variant SKCA-BR 8 56915403 56915403 single base substitution G A downstream_gene_variant SKCA-BR 8 56915403 56915403 single base substitution G A intron_variant SKCA-BR 8 56915915 56915915 single base substitution C T downstream_gene_variant SKCA-BR 8 56915915 56915915 single base substitution C T intron_variant SKCA-BR 8 56916943 56916943 single base substitution C T intron_variant SKCA-BR 8 56919635 56919635 single base substitution A G intron_variant SKCA-BR 8 56920682 56920682 insertion of <=200bp - AAAAAAAAAAT intron_variant SKCA-BR 8 56921993 56921993 single base substitution A C intron_variant SKCA-BR 8 56922164 56922164 single base substitution C T intron_variant SKCA-BR 8 56923978 56923978 single base substitution G A downstream_gene_variant SKCA-BR 8 56923979 56923979 single base substitution G A downstream_gene_variant SKCA-BR 8 56924917 56924917 single base substitution C T downstream_gene_variant SKCA-BR 8 56927481 56927481 insertion of <=200bp - TTTA downstream_gene_variant SKCA-BR 8 56927664 56927664 single base substitution C T downstream_gene_variant SKCA-BR 8 56928117 56928117 single base substitution C T downstream_gene_variant SKCM-US 8 56860176 56860176 single base substitution G A splice_acceptor_variant SKCM-US 8 56863018 56863018 single base substitution G T missense_variant E74D 222G>T SKCM-US 8 56863018 56863018 single base substitution G T missense_variant E95D 285G>T SKCM-US 8 56863018 56863018 single base substitution G T upstream_gene_variant SKCM-US 8 56863053 56863053 single base substitution C A missense_variant T107K 320C>A SKCM-US 8 56863053 56863053 single base substitution C A missense_variant T86K 257C>A SKCM-US 8 56863053 56863053 single base substitution C A upstream_gene_variant SKCM-US 8 56863069 56863069 single base substitution C T synonymous_variant F112F 336C>T SKCM-US 8 56863069 56863069 single base substitution C T synonymous_variant F91F 273C>T SKCM-US 8 56863069 56863069 single base substitution C T upstream_gene_variant SKCM-US 8 56863296 56863296 single base substitution G A missense_variant G126E 377G>A SKCM-US 8 56863296 56863296 single base substitution G A missense_variant G147E 440G>A SKCM-US 8 56863296 56863296 single base substitution G A upstream_gene_variant SKCM-US 8 56864528 56864528 single base substitution G C downstream_gene_variant SKCM-US 8 56864528 56864528 single base substitution G C missense_variant S143T 428G>C SKCM-US 8 56864528 56864528 single base substitution G C missense_variant S164T 491G>C SKCM-US 8 56864528 56864528 single base substitution G C upstream_gene_variant SKCM-US 8 56864630 56864630 single base substitution G A downstream_gene_variant SKCM-US 8 56864630 56864630 single base substitution G A missense_variant R177Q 530G>A SKCM-US 8 56864630 56864630 single base substitution G A missense_variant R198Q 593G>A SKCM-US 8 56864630 56864630 single base substitution G A upstream_gene_variant SKCM-US 8 56864660 56864660 single base substitution T A downstream_gene_variant SKCM-US 8 56864660 56864660 single base substitution T A missense_variant I187N 560T>A SKCM-US 8 56864660 56864660 single base substitution T A missense_variant I208N 623T>A SKCM-US 8 56864660 56864660 single base substitution T A upstream_gene_variant SKCM-US 8 56866538 56866538 single base substitution G A downstream_gene_variant SKCM-US 8 56866538 56866538 single base substitution G A stop_gained W241* 722G>A SKCM-US 8 56866538 56866538 single base substitution G A stop_gained W262* 785G>A SKCM-US 8 56866538 56866538 single base substitution G A upstream_gene_variant SKCM-US 8 56879362 56879362 single base substitution C T exon_variant SKCM-US 8 56879362 56879362 single base substitution C T synonymous_variant L272L 816C>T SKCM-US 8 56879362 56879362 single base substitution C T synonymous_variant L293L 879C>T SKCM-US 8 56879416 56879416 single base substitution G A exon_variant SKCM-US 8 56879416 56879416 single base substitution G A synonymous_variant R290R 870G>A SKCM-US 8 56879416 56879416 single base substitution G A synonymous_variant R311R 933G>A SKCM-US 8 56882295 56882295 single base substitution G A exon_variant SKCM-US 8 56882295 56882295 single base substitution G A synonymous_variant L310L 930G>A SKCM-US 8 56882295 56882295 single base substitution G A synonymous_variant L331L 993G>A SKCM-US 8 56910937 56910937 single base substitution G A exon_variant SKCM-US 8 56910937 56910937 single base substitution G A synonymous_variant K340K 1020G>A SKCM-US 8 56910937 56910937 single base substitution G A synonymous_variant K361K 1083G>A SKCM-US 8 56911988 56911988 single base substitution C T downstream_gene_variant SKCM-US 8 56911988 56911988 single base substitution C T missense_variant P385S 1153C>T SKCM-US 8 56911988 56911988 single base substitution C T missense_variant P406S 1216C>T SKCM-US 8 56912056 56912056 single base substitution C T downstream_gene_variant SKCM-US 8 56912056 56912056 single base substitution C T synonymous_variant S407S 1221C>T SKCM-US 8 56912056 56912056 single base substitution C T synonymous_variant S428S 1284C>T SKCM-US 8 56912099 56912099 single base substitution C T downstream_gene_variant SKCM-US 8 56912099 56912099 single base substitution C T missense_variant P422S 1264C>T SKCM-US 8 56912099 56912099 single base substitution C T missense_variant P443S 1327C>T SKCM-US 8 56922570 56922570 single base substitution G A stop_gained W459* 1377G>A SKCM-US 8 56922570 56922570 single base substitution G A stop_gained W480* 1440G>A STAD-US 8 56863306 56863306 single base substitution T C synonymous_variant A129A 387T>C STAD-US 8 56863306 56863306 single base substitution T C synonymous_variant A150A 450T>C STAD-US 8 56863306 56863306 single base substitution T C upstream_gene_variant STAD-US 8 56866415 56866415 single base substitution G A downstream_gene_variant STAD-US 8 56866415 56866415 single base substitution G A missense_variant R200K 599G>A STAD-US 8 56866415 56866415 single base substitution G A missense_variant R221K 662G>A STAD-US 8 56866415 56866415 single base substitution G A upstream_gene_variant STAD-US 8 56879353 56879353 single base substitution A C exon_variant STAD-US 8 56879353 56879353 single base substitution A C missense_variant E269D 807A>C STAD-US 8 56879353 56879353 single base substitution A C missense_variant E290D 870A>C STAD-US 8 56910922 56910922 single base substitution A T exon_variant STAD-US 8 56910922 56910922 single base substitution A T synonymous_variant A335A 1005A>T STAD-US 8 56910922 56910922 single base substitution A T synonymous_variant A356A 1068A>T STAD-US 8 56910959 56910959 single base substitution C G exon_variant STAD-US 8 56910959 56910959 single base substitution C G missense_variant R348G 1042C>G STAD-US 8 56910959 56910959 single base substitution C G missense_variant R369G 1105C>G STAD-US 8 56912001 56912001 single base substitution C T downstream_gene_variant STAD-US 8 56912001 56912001 single base substitution C T missense_variant T389M 1166C>T STAD-US 8 56912001 56912001 single base substitution C T missense_variant T410M 1229C>T STAD-US 8 56922616 56922616 single base substitution G A missense_variant V475I 1423G>A STAD-US 8 56922616 56922616 single base substitution G A missense_variant V496I 1486G>A THCA-US 8 56866442 56866442 single base substitution A G downstream_gene_variant THCA-US 8 56866442 56866442 single base substitution A G missense_variant K209R 626A>G THCA-US 8 56866442 56866442 single base substitution A G missense_variant K230R 689A>G THCA-US 8 56866442 56866442 single base substitution A G upstream_gene_variant UCEC-US 8 56859038 56859038 single base substitution G T missense_variant R34M 101G>T UCEC-US 8 56859038 56859038 single base substitution G T missense_variant R55M 164G>T UCEC-US 8 56859042 56859042 single base substitution T G missense_variant F35L 105T>G UCEC-US 8 56859042 56859042 single base substitution T G missense_variant F56L 168T>G UCEC-US 8 56860184 56860184 single base substitution G A synonymous_variant E41E 123G>A UCEC-US 8 56860184 56860184 single base substitution G A synonymous_variant E62E 186G>A UCEC-US 8 56860194 56860194 single base substitution G T missense_variant D45Y 133G>T UCEC-US 8 56860194 56860194 single base substitution G T missense_variant D66Y 196G>T UCEC-US 8 56860208 56860208 single base substitution C A synonymous_variant A49A 147C>A UCEC-US 8 56860208 56860208 single base substitution C A synonymous_variant A70A 210C>A UCEC-US 8 56863239 56863239 single base substitution G T splice_acceptor_variant UCEC-US 8 56863239 56863239 single base substitution G T upstream_gene_variant UCEC-US 8 56864617 56864617 single base substitution T C downstream_gene_variant UCEC-US 8 56864617 56864617 single base substitution T C missense_variant Y173H 517T>C UCEC-US 8 56864617 56864617 single base substitution T C missense_variant Y194H 580T>C UCEC-US 8 56864617 56864617 single base substitution T C upstream_gene_variant UCEC-US 8 56866444 56866444 single base substitution C T downstream_gene_variant UCEC-US 8 56866444 56866444 single base substitution C T missense_variant P210S 628C>T UCEC-US 8 56866444 56866444 single base substitution C T missense_variant P231S 691C>T UCEC-US 8 56866444 56866444 single base substitution C T upstream_gene_variant UCEC-US 8 56879367 56879367 single base substitution A G exon_variant UCEC-US 8 56879367 56879367 single base substitution A G missense_variant K274R 821A>G UCEC-US 8 56879367 56879367 single base substitution A G missense_variant K295R 884A>G UCEC-US 8 56882302 56882302 single base substitution G A exon_variant UCEC-US 8 56882302 56882302 single base substitution G A missense_variant D313N 937G>A UCEC-US 8 56882302 56882302 single base substitution G A missense_variant D334N 1000G>A UCEC-US 8 56882348 56882348 single base substitution C A exon_variant UCEC-US 8 56882348 56882348 single base substitution C A missense_variant A328D 983C>A UCEC-US 8 56882348 56882348 single base substitution C A missense_variant A349D 1046C>A UCEC-US 8 56910958 56910958 single base substitution G A exon_variant UCEC-US 8 56910958 56910958 single base substitution G A synonymous_variant L347L 1041G>A UCEC-US 8 56910958 56910958 single base substitution G A synonymous_variant L368L 1104G>A UCEC-US 8 56922615 56922615 single base substitution C T synonymous_variant S474S 1422C>T UCEC-US 8 56922615 56922615 single base substitution C T synonymous_variant S495S 1485C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand sysucc-882T COSM5447813 c.967G>A p.A323T Substitution - Missense 8:55966891-55966891 + TCGA-AD-5900-01 COSM1457572 c.505G>A p.V169I Substitution - Missense 8:55951983-55951983 + ESCC_146 COSM5644730 c.241G>A p.D81N Substitution - Missense 8:55947680-55947680 + TCGA-AZ-6601-01 COSM1457577 c.1229C>T p.T410M Substitution - Missense 8:55999442-55999442 + 381_T COSM3951735 c.447C>A p.S149R Substitution - Missense 8:55950744-55950744 + TCGA-EE-A20C-06 COSM3649929 c.879C>T p.L293L Substitution - coding silent 8:55966803-55966803 + CSCC-15-T COSM4538779 c.259G>A p.G87R Substitution - Missense 8:55947698-55947698 + T3152 COSM4699607 c.675T>A p.A225A Substitution - coding silent 8:55953869-55953869 + CHC892T COSM4796456 c.299G>A p.W100* Substitution - Nonsense 8:55950473-55950473 + CSCC-7-T COSM4557563 c.733G>A p.E245K Substitution - Missense 8:55953927-55953927 + BRC44 COSM5026917 c.1108G>A p.A370T Substitution - Missense 8:55998403-55998403 + TCGA-66-2789-01 COSM751135 c.766G>C p.G256R Substitution - Missense 8:55953960-55953960 + LUAD-S01356 COSM398387 c.345C>A p.S115R Substitution - Missense 8:55950519-55950519 + TCGA-AP-A059-01 COSM1100637 c.1046C>A p.A349D Substitution - Missense 8:55969789-55969789 + PCSI_0083_Pa_P COSM3382274 c.414C>T p.D138D Substitution - coding silent 8:55950711-55950711 + 61 COSM5738341 c.1336+1G>A p.? Unknown 8:55999550-55999550 + C086 COSM5534122 c.1303G>A p.E435K Substitution - Missense 8:55999516-55999516 + Au4 COSM5604018 c.285G>A p.E95E Substitution - coding silent 8:55950459-55950459 + TCGA-CD-8531-01 COSM1457577 c.1229C>T p.T410M Substitution - Missense 8:55999442-55999442 + TCGA-13-0890-01 COSM75325 c.907G>C p.V303L Substitution - Missense 8:55966831-55966831 + Pat_37_B COSM5874831 c.1327_1328CC>AT p.P443I Substitution - Missense 8:55999540-55999541 + 1994849 COSM1666846 c.1136T>C p.L379P Substitution - Missense 8:55998431-55998431 + SH-7282 COSM4419041 c.699G>A p.K233K Substitution - coding silent 8:55953893-55953893 + LS174T COSM2719438 c.388T>G p.F130V Substitution - Missense 8:55950685-55950685 + TCGA-QB-A6FS-06 COSM3925417 c.785G>A p.W262* Substitution - Nonsense 8:55953979-55953979 + 61 COSM5738340 c.607T>C p.C203R Substitution - Missense 8:55952085-55952085 + D7 COSM5007648 c.1362C>T p.T454T Substitution - coding silent 8:56009933-56009933 + TCGA-28-5220-01 COSM3413072 c.323A>G p.K108R Substitution - Missense 8:55950497-55950497 + 46M COSM5534122 c.1303G>A p.E435K Substitution - Missense 8:55999516-55999516 + 2492730 COSM5729738 c.68C>T p.P23L Substitution - Missense 8:55941927-55941927 + TCGA-A2-A0CT-01 COSM454696 c.627A>T p.K209N Substitution - Missense 8:55952105-55952105 + TCGA-BR-6452-01 COSM3900742 c.450T>C p.A150A Substitution - coding silent 8:55950747-55950747 + HCA7 COSM2719436 c.321delA p.E110fs*15 Deletion - Frameshift 8:55950495-55950495 + TCGA-AP-A059-01 COSM1100627 c.384-1G>T p.? Unknown 8:55950680-55950680 + 2492723 COSM5723931 c.704G>A p.W235* Substitution - Nonsense 8:55953898-55953898 + TCGA-BR-6565-01 COSM3900746 c.1105C>G p.R369G Substitution - Missense 8:55998400-55998400 + CHC892T COSM4796456 c.299G>A p.W100* Substitution - Nonsense 8:55950473-55950473 + TCGA-GN-A266-06 COSM3649927 c.336C>T p.F112F Substitution - coding silent 8:55950510-55950510 + TCGA-AP-A0LM-01 COSM1100631 c.691C>T p.P231S Substitution - Missense 8:55953885-55953885 + HCC2998 COSM1673919 c.1075G>A p.E359K Substitution - Missense 8:55998370-55998370 + DN12012 COSM5787072 c.433G>C p.A145P Substitution - Missense 8:55950730-55950730 + TCGA-B5-A0K9-01 COSM1100629 c.580T>C p.Y194H Substitution - Missense 8:55952058-55952058 + A5 COSM1673919 c.1075G>A p.E359K Substitution - Missense 8:55998370-55998370 + CSCC-31-T COSM4463891 c.130C>T p.P44S Substitution - Missense 8:55941989-55941989 + LS174T COSM4646211 c.211T>C p.L71L Substitution - coding silent 8:55947650-55947650 + PA182 COSM1162624 c.1206T>C p.G402G Substitution - coding silent 8:55999419-55999419 + 1115202 COSM5553067 c.734A>T p.E245V Substitution - Missense 8:55953928-55953928 + B89-16 COSM1755755 c.597C>T p.I199I Substitution - coding silent 8:55952075-55952075 + C086 COSM5534123 c.972G>A p.K324K Substitution - coding silent 8:55966896-55966896 + S10-44607-TP COSM4993128 c.565G>A p.D189N Substitution - Missense 8:55952043-55952043 + TCGA-B6-A0I9-01 COSM454698 c.1508C>A p.A503D Substitution - Missense 8:56010079-56010079 + TCGA-AC-A2FM-01 COSM3834854 c.1096C>T p.R366W Substitution - Missense 8:55998391-55998391 + TCGA-FW-A3R5-06 COSM3925419 c.1440G>A p.W480* Substitution - Nonsense 8:56010011-56010011 + CSCC-35-T COSM4468266 c.1535C>T p.P512L Substitution - Missense 8:56010106-56010106 + S02296 COSM5689652 c.1077G>T p.E359D Substitution - Missense 8:55998372-55998372 + TCGA-BF-A1PZ-01 COSM4399329 c.491G>C p.S164T Substitution - Missense 8:55951969-55951969 + TCGA-DK-A3IN-01 COSM3779282 c.731G>A p.R244Q Substitution - Missense 8:55953925-55953925 + C058 COSM5525207 c.290G>A p.G97E Substitution - Missense 8:55950464-55950464 + CSCC-29-T COSM4487033 c.312C>T p.S104S Substitution - coding silent 8:55950486-55950486 + SJHGG078_A COSM4969880 c.240C>T p.D80D Substitution - coding silent 8:55947679-55947679 + C709 COSM266871 c.1363G>A p.A455T Substitution - Missense 8:56009934-56009934 + TCGA-EE-A2MR-06 COSM3649931 c.993G>A p.L331L Substitution - coding silent 8:55969736-55969736 + TCGA-B5-A11E-01 COSM1100623 c.196G>T p.D66Y Substitution - Missense 8:55947635-55947635 + SNU-175 COSM2719451 c.1527G>A p.Q509Q Substitution - coding silent 8:56010098-56010098 + TCGA-36-2543-01 COSM1330945 c.790+2T>G p.? Unknown 8:55953986-55953986 + TCGA-19-5955-01 COSM3413073 c.678T>C p.C226C Substitution - coding silent 8:55953872-55953872 + TCGA-HU-A4H0-01 COSM3900743 c.662G>A p.R221K Substitution - Missense 8:55953856-55953856 + LP6005690-DNA_C02 COSM4412243 c.1390C>T p.R464C Substitution - Missense 8:56009961-56009961 + DN11135 COSM5782369 c.894G>C p.Q298H Substitution - Missense 8:55966818-55966818 + CSCC-55-T COSM4554454 c.621G>A p.M207I Substitution - Missense 8:55952099-55952099 + TCGA-66-2754-01 COSM751134 c.791-1G>T p.? Unknown 8:55966714-55966714 + TCGA-32-2494-01 COSM3413071 c.8G>A p.C3Y Substitution - Missense 8:55941867-55941867 + TCGA-GF-A6C9-06 COSM4901154 c.623T>A p.I208N Substitution - Missense 8:55952101-55952101 + TCGA-DK-A2I4-01 COSM3779283 c.1408G>C p.D470H Substitution - Missense 8:56009979-56009979 + PT52 COSM5939837 c.1006G>A p.G336S Substitution - Missense 8:55969749-55969749 + CLL153 COSM1292714 c.1478T>C p.L493S Substitution - Missense 8:56010049-56010049 + TCGA-B5-A11J-01 COSM1100639 c.1104G>A p.L368L Substitution - coding silent 8:55998399-55998399 + TCGA-GF-A4EO-06 COSM3649925 c.179-1G>A p.? Unknown 8:55947617-55947617 + PCSI_0547_Pa_P_526 COSM5031950 c.184G>T p.E62* Substitution - Nonsense 8:55947623-55947623 + PCSI_0083_Pa_P_526 COSM3382274 c.414C>T p.D138D Substitution - coding silent 8:55950711-55950711 + RKO COSM4649236 c.1063A>G p.M355V Substitution - Missense 8:55998358-55998358 + CLL103 COSM1292713 c.1266T>G p.I422M Substitution - Missense 8:55999479-55999479 + 2492721 COSM5723931 c.704G>A p.W235* Substitution - Nonsense 8:55953898-55953898 + T3535 COSM2719436 c.321delA p.E110fs*15 Deletion - Frameshift 8:55950495-55950495 + TCGA-B2-5633-01 COSM486536 c.1517G>A p.G506E Substitution - Missense 8:56010088-56010088 + TCGA-DS-A1OC-01 COSM1294421 c.20A>T p.K7I Substitution - Missense 8:55941879-55941879 + TCGA-AX-A060-01 COSM1100633 c.884A>G p.K295R Substitution - Missense 8:55966808-55966808 + PCSI_0083_Pa_X COSM3382274 c.414C>T p.D138D Substitution - coding silent 8:55950711-55950711 + TCGA-GN-A266-06 COSM3649934 c.1327C>T p.P443S Substitution - Missense 8:55999540-55999540 + KM12 COSM2719436 c.321delA p.E110fs*15 Deletion - Frameshift 8:55950495-55950495 + PD0119a COSM605 c.1153G>T p.D385Y Substitution - Missense 8:55998448-55998448 + TCGA-GL-8500-01 COSM3996090 c.1480C>A p.Q494K Substitution - Missense 8:56010051-56010051 + 2492720 COSM5723931 c.704G>A p.W235* Substitution - Nonsense 8:55953898-55953898 + SNUH_G76_S1 COSM4419041 c.699G>A p.K233K Substitution - coding silent 8:55953893-55953893 + LS180 COSM2719438 c.388T>G p.F130V Substitution - Missense 8:55950685-55950685 + HCC2998 COSM1673919 c.1075G>A p.E359K Substitution - Missense 8:55998370-55998370 + LUAD-YINHD COSM351807 c.1408G>T p.D470Y Substitution - Missense 8:56009979-56009979 + TCGA-D3-A51R-06 COSM3649928 c.440G>A p.G147E Substitution - Missense 8:55950737-55950737 + TCGA-E2-A155-01 COSM454697 c.1252G>A p.G418R Substitution - Missense 8:55999465-55999465 + S02322 COSM5691606 c.755G>A p.R252K Substitution - Missense 8:55953949-55953949 + TCGA-E8-A433-01 COSM3374956 c.689A>G p.K230R Substitution - Missense 8:55953883-55953883 + TCGA-FW-A3R5-06 COSM3925418 c.1083G>A p.K361K Substitution - coding silent 8:55998378-55998378 + TCGA-AP-A0LM-01 COSM1100635 c.1000G>A p.D334N Substitution - Missense 8:55969743-55969743 + 35M COSM5581589 c.604C>T p.P202S Substitution - Missense 8:55952082-55952082 + S02139 COSM5674644 c.958G>C p.E320Q Substitution - Missense 8:55966882-55966882 + TCGA-AP-A051-01 COSM1100625 c.210C>A p.A70A Substitution - coding silent 8:55947649-55947649 + TCGA-AA-A00N-01 COSM275951 c.773T>G p.F258C Substitution - Missense 8:55953967-55953967 + TCGA-EE-A3JB-06 COSM4898139 c.593G>A p.R198Q Substitution - Missense 8:55952071-55952071 + TCGA-ER-A19E-06 COSM3649926 c.285G>T p.E95D Substitution - Missense 8:55950459-55950459 + TCGA-A5-A0GA-01 COSM1100617 c.164G>T p.R55M Substitution - Missense 8:55946479-55946479 + TCGA-AA-3672-01 COSM266871 c.1363G>A p.A455T Substitution - Missense 8:56009934-56009934 + TCGA-ER-A2NE-06 COSM3925416 c.320C>A p.T107K Substitution - Missense 8:55950494-55950494 + TCGA-BR-6452-01 COSM3900745 c.1068A>T p.A356A Substitution - coding silent 8:55998363-55998363 + ccRCC-45 COSM1662655 c.222T>A p.Y74* Substitution - Nonsense 8:55947661-55947661 + HN_62741 COSM126789 c.1105C>T p.R369* Substitution - Nonsense 8:55998400-55998400 + TCGA-D1-A15X-01 COSM1100619 c.168T>G p.F56L Substitution - Missense 8:55946483-55946483 + TCGA-ED-A7PZ-01 COSM4917050 c.912G>T p.R304S Substitution - Missense 8:55966836-55966836 + H1155 COSM1195193 c.352G>A p.V118M Substitution - Missense 8:55950526-55950526 + PD8995a COSM5782369 c.894G>C p.Q298H Substitution - Missense 8:55966818-55966818 + PT35 COSM5912822 c.289G>A p.G97R Substitution - Missense 8:55950463-55950463 + TCGA-B5-A0JY-01 COSM1100641 c.1485C>T p.S495S Substitution - coding silent 8:56010056-56010056 + TCGA-BR-8589-01 COSM3900744 c.870A>C p.E290D Substitution - Missense 8:55966794-55966794 + AOCS-117-3-3 COSM751134 c.791-1G>T p.? Unknown 8:55966714-55966714 + 2492722 COSM5723931 c.704G>A p.W235* Substitution - Nonsense 8:55953898-55953898 + TCGA-FS-A4F5-06 COSM3649932 c.1216C>T p.P406S Substitution - Missense 8:55999429-55999429 + TCGA-AA-3860-01 COSM295952 c.1472A>G p.D491G Substitution - Missense 8:56010043-56010043 + B89-16-Tumor COSM1755755 c.597C>T p.I199I Substitution - coding silent 8:55952075-55952075 + CLL153 COSM1292715 c.1522T>C p.Y508H Substitution - Missense 8:56010093-56010093 + CHC2206T COSM4956988 c.1493A>G p.D498G Substitution - Missense 8:56010064-56010064 + BD171T COSM5494765 c.387G>T p.W129C Substitution - Missense 8:55950684-55950684 + TCGA-AC-A23H-01 COSM3834853 c.57G>C p.L19F Substitution - Missense 8:55941916-55941916 + CHC2206T COSM4956988 c.1493A>G p.D498G Substitution - Missense 8:56010064-56010064 + PD18050a COSM5787072 c.433G>C p.A145P Substitution - Missense 8:55950730-55950730 + TCGA-BR-6452-01 COSM3900747 c.1486G>A p.V496I Substitution - Missense 8:56010057-56010057 + S05-46290-TP COSM4993127 c.4G>C p.G2R Substitution - Missense 8:55941863-55941863 + T3091 COSM2719439 c.415G>A p.A139T Substitution - Missense 8:55950712-55950712 + S10-24679-TP COSM4993129 c.848C>T p.S283F Substitution - Missense 8:55966772-55966772 + TCGA-D5-5540-01 COSM1457573 c.868G>A p.E290K Substitution - Missense 8:55966792-55966792 + PD0119a COSM605 c.1153G>T p.D385Y Substitution - Missense 8:55998448-55998448 + TCGA-AN-A046-01 COSM3834855 c.1442A>C p.K481T Substitution - Missense 8:56010013-56010013 + TCGA-D3-A3MR-06 COSM3649930 c.933G>A p.R311R Substitution - coding silent 8:55966857-55966857 + TCGA-D3-A2JC-06 COSM3649933 c.1284C>T p.S428S Substitution - coding silent 8:55999497-55999497 + CSCC-27-T COSM4453338 c.27A>T p.K9N Substitution - Missense 8:55941886-55941886 + TCGA-B5-A11E-01 COSM1100621 c.186G>A p.E62E Substitution - coding silent 8:55947625-55947625 + TCGA-JW-A5VJ-01 COSM4818555 c.1137C>G p.L379L Substitution - coding silent 8:55998432-55998432 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.491767 8q13 165120

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.D491G c.1472A>G 8 56922602 COREAD A G Missense p.E413G c.1238A>G 8 56912010 HNSC A G Missense p.K108R c.323A>G 8 56863056 GBM A G Missense p.K295R c.884A>G 8 56879367 UCEC A G Missense p.Y357C c.1070A>G 8 56910924 LUAD A T Missense p.K209N c.627A>T 8 56864664 BRCA C A Missense p.A503D c.1508C>A 8 56922638 BRCA C A Missense p.T107K c.320C>A 8 56863053 CM C G IntronicSNV . c.1-40035C>G 8 56814384 CLL C G Missense p.R369G c.1105C>G 8 56910959 STAD C T Missense p.P146S c.436C>T 8 56863292 CM C T Missense p.P202S c.604C>T 8 56864641 CM C T Nonsense p.R369* c.1105C>T 8 56910959 HNSC C T Synonymous p.L293L c.879C>T 8 56879362 CM C T Synonymous p.L331L c.991C>T 8 56882293 CM C T Synonymous p.S428S c.1284C>T 8 56912056 CM G A 5-UTRSNV . c.1-5G>A 8 56854414 CM G A Missense p.A370T c.1108G>A 8 56910962 BRCA G A Missense p.C3Y c.8G>A 8 56854426 GBM G A Missense p.D10N c.28G>A 8 56854446 CM G A Missense p.D66N c.196G>A 8 56860194 CM G A Missense p.E159K c.475G>A 8 56863331 BRCA G A Missense p.G264S c.790G>A 8 56866543 LUAD G A Missense p.G418R c.1252G>A 8 56912024 BRCA G A Missense p.M90I c.270G>A 8 56860268 HNSC G A Missense p.R198Q c.593G>A 8 56864630 CM G A Missense p.R244Q c.731G>A 8 56866484 BLCA G A Synonymous p.E396E c.1188G>A 8 56911042 CM G A Synonymous p.L368L c.1104G>A 8 56910958 UCEC G A Synonymous p.R311R c.933G>A 8 56879416 CM G A Synonymous p.R55R c.165G>A 8 56859039 CM G A Synonymous p.V465V c.1395G>A 8 56922525 CM G C Missense p.D470H c.1408G>C 8 56922538 BLCA G C Missense p.E241D c.723G>C 8 56866476 LUAD G C Missense p.G256R c.766G>C 8 56866519 LUSC G C Missense p.S164T c.491G>C 8 56864528 CM G C Missense p.V303L c.907G>C 8 56879390 OV G T Missense p.E95D c.285G>T 8 56863018 CM G T Missense p.R55M c.164G>T 8 56859038 UCEC G T Nonsense p.E313* c.937G>T 8 56879420 HNSC G T SpliceAcceptorSNV . c.791-1G>T 8 56879273 LUSC T A IntronicSNV . c.1-54297T>A 8 56800122 CLL T C Missense p.L277P c.830T>C 8 56879313 LUAD T C Missense p.L493S c.1478T>C 8 56922608 CLL T C Missense p.Y194H c.580T>C 8 56864617 UCEC T C Missense p.Y508H c.1522T>C 8 56922652 CLL T C Synonymous p.C226C c.678T>C 8 56866431 GBM T G Missense p.I422M c.1266T>G 8 56912038 CLL T - IntronicDeletion . c.133-22delT 8 56858977 STAD