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 ACC 1 57173340 57173341 + Frame_Shift_Ins INS - - T TCGA-OR-A5J5-01A-11D-A29I-10 TCGA-OR-A5J5-10A-01D-A29L-10 g.chr1:57173340_57173341insT c.1613_1614insT c.(1612-1617)gattttfs p.DF538fs BLCA 1 57159458 57159458 + Missense_Mutation SNP G G C TCGA-XF-AAMQ-01A-11D-A42E-08 TCGA-XF-AAMQ-10A-01D-A42H-08 g.chr1:57159458G>C c.496G>C c.(496-498)Gat>Cat p.D166H BLCA 1 57161760 57161760 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 g.chr1:57161760G>A c.716G>A c.(715-717)cGt>cAt p.R239H BLCA 1 57169763 57169763 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 g.chr1:57169763C>T c.908C>T c.(907-909)aCa>aTa p.T303I BLCA 1 57169898 57169898 + Missense_Mutation SNP C C G TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 g.chr1:57169898C>G c.1043C>G c.(1042-1044)tCt>tGt p.S348C BLCA 1 57169954 57169954 + Missense_Mutation SNP C C A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 g.chr1:57169954C>A c.1099C>A c.(1099-1101)Cca>Aca p.P367T BLCA 1 57169957 57169957 + Missense_Mutation SNP G G C TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 g.chr1:57169957G>C c.1102G>C c.(1102-1104)Gaa>Caa p.E368Q BLCA 1 57171852 57171852 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 g.chr1:57171852G>A c.1381G>A c.(1381-1383)Gat>Aat p.D461N BRCA 1 57159438 57159438 + Splice_Site SNP G G T TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 g.chr1:57159438G>T c.476G>T c.(475-477)gGa>gTa p.G159V BRCA 1 57169877 57169877 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr1:57169877A>C c.1022A>C c.(1021-1023)tAc>tCc p.Y341S CESC 1 57158046 57158046 + Missense_Mutation SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 g.chr1:57158046G>A c.346G>A c.(346-348)Gcc>Acc p.A116T CESC 1 57161821 57161821 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 g.chr1:57161821C>G c.777C>G c.(775-777)atC>atG p.I259M CESC 1 57173318 57173318 + Missense_Mutation SNP C C T TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 g.chr1:57173318C>T c.1591C>T c.(1591-1593)Cgc>Tgc p.R531C CHOL 1 57140104 57140107 + Frame_Shift_Del DEL AGAC AGAC - TCGA-ZH-A8Y2-01A-11D-A417-09 TCGA-ZH-A8Y2-10A-01D-A41A-09 g.chr1:57140104_57140107delAGAC c.145_148delAGAC c.(145-150)agacagfs p.RQ49fs COAD 1 57140095 57140095 + Missense_Mutation SNP A A C TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr1:57140095A>C c.136A>C c.(136-138)Atc>Ctc p.I46L COAD 1 57157094 57157094 + Frame_Shift_Del DEL T T - TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr1:57157094delT c.264delT c.(262-264)gatfs p.D88fs COAD 1 57157094 57157094 + Frame_Shift_Del DEL T T - TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr1:57157094delT c.264delT c.(262-264)gatfs p.D88fs COAD 1 57159484 57159484 + Silent SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr1:57159484C>T c.522C>T c.(520-522)tgC>tgT p.C174C COAD 1 57159517 57159517 + Silent SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:57159517C>T c.555C>T c.(553-555)atC>atT p.I185I COAD 1 57169961 57169961 + Missense_Mutation SNP G G T TCGA-AA-3858-01A-01W-0900-09 TCGA-AA-3858-10A-01W-0900-09 g.chr1:57169961G>T c.1106G>T c.(1105-1107)aGg>aTg p.R369M COAD 1 57170075 57170075 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr1:57170075G>A c.1220G>A c.(1219-1221)cGa>cAa p.R407Q COAD 1 57170075 57170075 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr1:57170075G>A c.1220G>A c.(1219-1221)cGa>cAa p.R407Q COAD 1 57171844 57171844 + Missense_Mutation SNP A A G TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr1:57171844A>G c.1373A>G c.(1372-1374)tAc>tGc p.Y458C COAD 1 57171868 57171868 + Missense_Mutation SNP T T G TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr1:57171868T>G c.1397T>G c.(1396-1398)cTt>cGt p.L466R COAD 1 57173243 57173243 + Missense_Mutation SNP A A G TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr1:57173243A>G c.1516A>G c.(1516-1518)Act>Gct p.T506A COAD 1 57173245 57173245 + Silent SNP T T C TCGA-CK-5914-01A-11D-1650-10 TCGA-CK-5914-10A-01D-1650-10 g.chr1:57173245T>C c.1518T>C c.(1516-1518)acT>acC p.T506T COAD 1 57173245 57173245 + Silent SNP T T C TCGA-CM-5344-01A-21D-1719-10 TCGA-CM-5344-10A-01D-1719-10 g.chr1:57173245T>C c.1518T>C c.(1516-1518)acT>acC p.T506T COAD 1 57173254 57173254 + Silent SNP C C T TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr1:57173254C>T c.1527C>T c.(1525-1527)agC>agT p.S509S COAD 1 57173269 57173270 + Frame_Shift_Del DEL CT CT - TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chr1:57173269_57173270delCT c.1542_1543delCT c.(1540-1545)ggctctfs p.S515fs COAD 1 57173271 57173271 + Missense_Mutation SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr1:57173271C>T c.1544C>T c.(1543-1545)tCt>tTt p.S515F COAD 1 57173295 57173295 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:57173295G>A c.1568G>A c.(1567-1569)aGc>aAc p.S523N COAD 1 57173324 57173324 + Missense_Mutation SNP G G T TCGA-AA-3837-01A-01W-0900-09 TCGA-AA-3837-10A-01W-0900-09 g.chr1:57173324G>T c.1597G>T c.(1597-1599)Ggc>Tgc p.G533C COAD 1 57173340 57173341 + Frame_Shift_Ins INS - - T TCGA-AA-A00A-01A-01W-A005-10 TCGA-AA-A00A-10A-01W-A005-10 g.chr1:57173340_57173341insT c.1613_1614insT c.(1612-1617)gattttfs p.DF538fs COAD 1 57173341 57173341 + Frame_Shift_Del DEL T T - TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr1:57173341delT c.1614delT c.(1612-1614)gatfs p.D538fs COADREAD 1 57140095 57140095 + Missense_Mutation SNP A A C TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr1:57140095A>C c.136A>C c.(136-138)Atc>Ctc p.I46L COADREAD 1 57157094 57157094 + Frame_Shift_Del DEL T T - TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr1:57157094delT c.264delT c.(262-264)gatfs p.D88fs COADREAD 1 57157094 57157094 + Frame_Shift_Del DEL T T - TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr1:57157094delT c.264delT c.(262-264)gatfs p.D88fs COADREAD 1 57158129 57158129 + Silent SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:57158129G>A c.429G>A c.(427-429)gaG>gaA p.E143E COADREAD 1 57159484 57159484 + Silent SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr1:57159484C>T c.522C>T c.(520-522)tgC>tgT p.C174C COADREAD 1 57159517 57159517 + Silent SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:57159517C>T c.555C>T c.(553-555)atC>atT p.I185I COADREAD 1 57161768 57161768 + Missense_Mutation SNP G G A TCGA-AG-A025-01A-01W-A00E-09 TCGA-AG-A025-10A-01W-A00E-09 g.chr1:57161768G>A c.724G>A c.(724-726)Gcc>Acc p.A242T COADREAD 1 57169961 57169961 + Missense_Mutation SNP G G T TCGA-AA-3858-01A-01W-0900-09 TCGA-AA-3858-10A-01W-0900-09 g.chr1:57169961G>T c.1106G>T c.(1105-1107)aGg>aTg p.R369M COADREAD 1 57170075 57170075 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr1:57170075G>A c.1220G>A c.(1219-1221)cGa>cAa p.R407Q COADREAD 1 57170075 57170075 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:57170075G>A c.1220G>A c.(1219-1221)cGa>cAa p.R407Q COADREAD 1 57170075 57170075 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr1:57170075G>A c.1220G>A c.(1219-1221)cGa>cAa p.R407Q COADREAD 1 57171786 57171786 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:57171786C>T c.1315C>T c.(1315-1317)Cgt>Tgt p.R439C COADREAD 1 57171844 57171844 + Missense_Mutation SNP A A G TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr1:57171844A>G c.1373A>G c.(1372-1374)tAc>tGc p.Y458C COADREAD 1 57171868 57171868 + Missense_Mutation SNP T T G TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr1:57171868T>G c.1397T>G c.(1396-1398)cTt>cGt p.L466R COADREAD 1 57173243 57173243 + Missense_Mutation SNP A A G TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr1:57173243A>G c.1516A>G c.(1516-1518)Act>Gct p.T506A COADREAD 1 57173243 57173243 + Missense_Mutation SNP A A G TCGA-F5-6465-01A-11D-1733-10 TCGA-F5-6465-10A-01D-1733-10 g.chr1:57173243A>G c.1516A>G c.(1516-1518)Act>Gct p.T506A COADREAD 1 57173245 57173245 + Silent SNP T T C TCGA-CK-5914-01A-11D-1650-10 TCGA-CK-5914-10A-01D-1650-10 g.chr1:57173245T>C c.1518T>C c.(1516-1518)acT>acC p.T506T COADREAD 1 57173245 57173245 + Silent SNP T T C TCGA-CM-5344-01A-21D-1719-10 TCGA-CM-5344-10A-01D-1719-10 g.chr1:57173245T>C c.1518T>C c.(1516-1518)acT>acC p.T506T COADREAD 1 57173254 57173254 + Silent SNP C C T TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr1:57173254C>T c.1527C>T c.(1525-1527)agC>agT p.S509S COADREAD 1 57173269 57173270 + Frame_Shift_Del DEL CT CT - TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chr1:57173269_57173270delCT c.1542_1543delCT c.(1540-1545)ggctctfs p.S515fs COADREAD 1 57173271 57173271 + Missense_Mutation SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr1:57173271C>T c.1544C>T c.(1543-1545)tCt>tTt p.S515F COADREAD 1 57173294 57173294 + Missense_Mutation SNP A A G TCGA-DY-A1DF-01A-11D-A152-10 TCGA-DY-A1DF-10A-01D-A152-10 g.chr1:57173294A>G c.1567A>G c.(1567-1569)Agc>Ggc p.S523G COADREAD 1 57173295 57173295 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:57173295G>A c.1568G>A c.(1567-1569)aGc>aAc p.S523N COADREAD 1 57173324 57173324 + Missense_Mutation SNP G G T TCGA-AA-3837-01A-01W-0900-09 TCGA-AA-3837-10A-01W-0900-09 g.chr1:57173324G>T c.1597G>T c.(1597-1599)Ggc>Tgc p.G533C COADREAD 1 57173340 57173341 + Frame_Shift_Ins INS - - T TCGA-AA-A00A-01A-01W-A005-10 TCGA-AA-A00A-10A-01W-A005-10 g.chr1:57173340_57173341insT c.1613_1614insT c.(1612-1617)gattttfs p.DF538fs COADREAD 1 57173341 57173341 + Frame_Shift_Del DEL T T - TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr1:57173341delT c.1614delT c.(1612-1614)gatfs p.D538fs ESCA 1 57173343 57173343 + Missense_Mutation SNP T T G TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 g.chr1:57173343T>G c.1616T>G c.(1615-1617)tTt>tGt p.F539C GBMLGG 1 57161814 57161814 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:57161814C>A c.770C>A c.(769-771)gCa>gAa p.A257E GBMLGG 1 57170134 57170134 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:57170134G>T c.1279G>T c.(1279-1281)Gat>Tat p.D427Y HNSC 1 57140142 57140142 + Silent SNP A A C TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 g.chr1:57140142A>C c.183A>C c.(181-183)atA>atC p.I61I HNSC 1 57158157 57158157 + Missense_Mutation SNP G G T TCGA-BA-A6DA-01A-31D-A31L-08 TCGA-BA-A6DA-10A-01D-A31J-08 g.chr1:57158157G>T c.457G>T c.(457-459)Gcc>Tcc p.A153S HNSC 1 57161705 57161705 + Missense_Mutation SNP A A G TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 g.chr1:57161705A>G c.661A>G c.(661-663)Acg>Gcg p.T221A HNSC 1 57161755 57161755 + Silent SNP C C G TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 g.chr1:57161755C>G c.711C>G c.(709-711)ctC>ctG p.L237L HNSC 1 57161834 57161834 + Splice_Site SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr1:57161834T>C c.e6+2 HNSC 1 57170082 57170082 + Missense_Mutation SNP G G C TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 g.chr1:57170082G>C c.1227G>C c.(1225-1227)caG>caC p.Q409H HNSC 1 57173370 57173370 + Missense_Mutation SNP C C T TCGA-F7-8298-01A-11D-2394-08 TCGA-F7-8298-10A-01D-2394-08 g.chr1:57173370C>T c.1643C>T c.(1642-1644)aCt>aTt p.T548I LAML 1 57161723 57161723 + Nonsense_Mutation SNP C C T TCGA-AB-2978-03A-01D-0739-09 TCGA-AB-2978-11A-01D-0739-09 g.chr1:57161723C>T c.679C>T c.(679-681)Cga>Tga p.R227* LGG 1 57161814 57161814 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:57161814C>A c.770C>A c.(769-771)gCa>gAa p.A257E LGG 1 57170134 57170134 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:57170134G>T c.1279G>T c.(1279-1281)Gat>Tat p.D427Y LUAD 1 57140146 57140146 + Nonsense_Mutation SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 g.chr1:57140146C>T c.187C>T c.(187-189)Cga>Tga p.R63* LUAD 1 57158076 57158076 + Missense_Mutation SNP G G A TCGA-44-8117-01A-11D-2238-08 TCGA-44-8117-10A-01D-2238-08 g.chr1:57158076G>A c.376G>A c.(376-378)Gct>Act p.A126T LUAD 1 57159456 57159456 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 g.chr1:57159456C>T c.494C>T c.(493-495)tCa>tTa p.S165L LUAD 1 57169857 57169857 + Missense_Mutation SNP G G T TCGA-86-8054-01A-11D-2238-08 TCGA-86-8054-10A-01D-2238-08 g.chr1:57169857G>T c.1002G>T c.(1000-1002)atG>atT p.M334I LUAD 1 57169915 57169915 + Missense_Mutation SNP G G T TCGA-55-8208-01A-11D-2238-08 TCGA-55-8208-10A-01D-2238-08 g.chr1:57169915G>T c.1060G>T c.(1060-1062)Gat>Tat p.D354Y LUAD 1 57170052 57170052 + Missense_Mutation SNP A A T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 g.chr1:57170052A>T c.1197A>T c.(1195-1197)aaA>aaT p.K399N LUAD 1 57170140 57170140 + Frame_Shift_Del DEL G G - TCGA-44-7660-01A-11D-2063-08 TCGA-44-7660-10A-01D-2063-08 g.chr1:57170140delG c.1285delG c.(1285-1287)gaafs p.E429fs LUAD 1 57171767 57171767 + Silent SNP A A G TCGA-99-8025-01A-11D-2238-08 TCGA-99-8025-10A-01D-2238-08 g.chr1:57171767A>G c.1296A>G c.(1294-1296)gtA>gtG p.V432V LUAD 1 57171805 57171805 + Missense_Mutation SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 g.chr1:57171805C>T c.1334C>T c.(1333-1335)cCa>cTa p.P445L LUSC 1 57140174 57140174 + Missense_Mutation SNP G G A TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 g.chr1:57140174G>A c.215G>A c.(214-216)cGt>cAt p.R72H LUSC 1 57157066 57157066 + Splice_Site SNP G G A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 g.chr1:57157066G>A c.e3-1 LUSC 1 57159485 57159485 + Missense_Mutation SNP G G C TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 g.chr1:57159485G>C c.523G>C c.(523-525)Gga>Cga p.G175R LUSC 1 57170117 57170117 + Missense_Mutation SNP G G T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 g.chr1:57170117G>T c.1262G>T c.(1261-1263)cGa>cTa p.R421L LUSC 1 57173172 57173172 + Missense_Mutation SNP G G C TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 g.chr1:57173172G>C c.1445G>C c.(1444-1446)gGt>gCt p.G482A OV 1 57140178 57140178 + Missense_Mutation SNP T T A TCGA-13-0904-01A-02W-0420-08 TCGA-13-0904-10A-01D-0399-08 g.chr1:57140178T>A c.219T>A c.(217-219)caT>caA p.H73Q OV 1 57159472 57159472 + Silent SNP G G C TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 g.chr1:57159472G>C c.510G>C c.(508-510)ctG>ctC p.L170L OV 1 57173243 57173243 + Missense_Mutation SNP A A G TCGA-20-0991-01A-03D-0428-08 TCGA-20-0991-10A-01D-0428-08 g.chr1:57173243A>G c.1516A>G c.(1516-1518)Act>Gct p.T506A PAAD 1 57170116 57170116 + Nonsense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:57170116C>T c.1261C>T c.(1261-1263)Cga>Tga p.R421* PCPG 1 57111088 57111089 + Frame_Shift_Ins INS - - G TCGA-QR-A70O-01A-11D-A35D-08 TCGA-QR-A70O-10A-01D-A35B-08 g.chr1:57111088_57111089insG c.28_29insG c.(28-30)cggfs p.R10fs PRAD 1 57161695 57161695 + Silent SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr1:57161695G>A c.651G>A c.(649-651)gaG>gaA p.E217E PRAD 1 57161715 57161715 + Missense_Mutation SNP A A G TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 g.chr1:57161715A>G c.671A>G c.(670-672)aAg>aGg p.K224R PRAD 1 57161759 57161759 + Missense_Mutation SNP C C T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 g.chr1:57161759C>T c.715C>T c.(715-717)Cgt>Tgt p.R239C PRAD 1 57169922 57169922 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr1:57169922C>T c.1067C>T c.(1066-1068)gCc>gTc p.A356V PRAD 1 57173319 57173319 + Missense_Mutation SNP G G A TCGA-KK-A59V-01A-11D-A29Q-08 TCGA-KK-A59V-11A-11D-A29Q-08 g.chr1:57173319G>A c.1592G>A c.(1591-1593)cGc>cAc p.R531H PRAD 1 57173364 57173364 + Missense_Mutation SNP T T A TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 g.chr1:57173364T>A c.1637T>A c.(1636-1638)cTg>cAg p.L546Q READ 1 57158129 57158129 + Silent SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:57158129G>A c.429G>A c.(427-429)gaG>gaA p.E143E READ 1 57161768 57161768 + Missense_Mutation SNP G G A TCGA-AG-A025-01A-01W-A00E-09 TCGA-AG-A025-10A-01W-A00E-09 g.chr1:57161768G>A c.724G>A c.(724-726)Gcc>Acc p.A242T READ 1 57170075 57170075 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:57170075G>A c.1220G>A c.(1219-1221)cGa>cAa p.R407Q READ 1 57171786 57171786 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:57171786C>T c.1315C>T c.(1315-1317)Cgt>Tgt p.R439C READ 1 57173243 57173243 + Missense_Mutation SNP A A G TCGA-F5-6465-01A-11D-1733-10 TCGA-F5-6465-10A-01D-1733-10 g.chr1:57173243A>G c.1516A>G c.(1516-1518)Act>Gct p.T506A READ 1 57173294 57173294 + Missense_Mutation SNP A A G TCGA-DY-A1DF-01A-11D-A152-10 TCGA-DY-A1DF-10A-01D-A152-10 g.chr1:57173294A>G c.1567A>G c.(1567-1569)Agc>Ggc p.S523G SARC 1 57111096 57111096 + Missense_Mutation SNP G G C TCGA-PC-A5DL-01A-11D-A26G-09 TCGA-PC-A5DL-10A-01D-A26G-09 g.chr1:57111096G>C c.36G>C c.(34-36)aaG>aaC p.K12N SARC 1 57169696 57169696 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 g.chr1:57169696C>T c.841C>T c.(841-843)Cct>Tct p.P281S SARC 1 57169747 57169747 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 g.chr1:57169747G>A c.892G>A c.(892-894)Gaa>Aaa p.E298K SARC 1 57170103 57170103 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 g.chr1:57170103G>A c.1248G>A c.(1246-1248)atG>atA p.M416I SKCM 1 57140109 57140109 + Silent SNP G G A TCGA-EE-A2MN-06A-11D-A197-08 TCGA-EE-A2MN-10A-01D-A199-08 g.chr1:57140109G>A c.150G>A c.(148-150)caG>caA p.Q50Q SKCM 1 57140173 57140173 + Missense_Mutation SNP C C T TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr1:57140173C>T c.214C>T c.(214-216)Cgt>Tgt p.R72C SKCM 1 57157100 57157100 + Silent SNP T T C TCGA-DA-A3F5-06A-11D-A20D-08 TCGA-DA-A3F5-10A-01D-A20D-08 g.chr1:57157100T>C c.270T>C c.(268-270)ttT>ttC p.F90F SKCM 1 57158174 57158174 + Splice_Site SNP C C T TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chr1:57158174C>T c.474C>T c.(472-474)ttC>ttT p.F158F SKCM 1 57159464 57159464 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 g.chr1:57159464G>A c.502G>A c.(502-504)Gaa>Aaa p.E168K SKCM 1 57159492 57159492 + Missense_Mutation SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 g.chr1:57159492C>T c.530C>T c.(529-531)cCa>cTa p.P177L SKCM 1 57161729 57161729 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr1:57161729G>A c.685G>A c.(685-687)Ggt>Agt p.G229S SKCM 1 57161734 57161734 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 g.chr1:57161734C>T c.690C>T c.(688-690)gtC>gtT p.V230V SKCM 1 57161747 57161747 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr1:57161747G>A c.703G>A c.(703-705)Gaa>Aaa p.E235K SKCM 1 57161759 57161759 + Missense_Mutation SNP C C T TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr1:57161759C>T c.715C>T c.(715-717)Cgt>Tgt p.R239C SKCM 1 57161759 57161759 + Missense_Mutation SNP C C T TCGA-EE-A3AE-06A-11D-A196-08 TCGA-EE-A3AE-10A-01D-A198-08 g.chr1:57161759C>T c.715C>T c.(715-717)Cgt>Tgt p.R239C SKCM 1 57161811 57161811 + Missense_Mutation SNP G G A TCGA-EB-A5SG-06A-11D-A30X-08 TCGA-EB-A5SG-10A-01D-A30X-08 g.chr1:57161811G>A c.767G>A c.(766-768)cGa>cAa p.R256Q SKCM 1 57161832 57161832 + Splice_Site SNP G G A TCGA-EE-A2M5-06A-12D-A197-08 TCGA-EE-A2M5-10A-01D-A199-08 g.chr1:57161832G>A c.788G>A c.(787-789)aGa>aAa p.R263K SKCM 1 57169687 57169687 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 g.chr1:57169687C>T c.832C>T c.(832-834)Cct>Tct p.P278S SKCM 1 57169700 57169700 + Missense_Mutation SNP C C T TCGA-EE-A20F-06A-21D-A196-08 TCGA-EE-A20F-10A-01D-A198-08 g.chr1:57169700C>T c.845C>T c.(844-846)tCc>tTc p.S282F SKCM 1 57169747 57169747 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr1:57169747G>A c.892G>A c.(892-894)Gaa>Aaa p.E298K SKCM 1 57169756 57169756 + Missense_Mutation SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr1:57169756G>A c.901G>A c.(901-903)Gaa>Aaa p.E301K SKCM 1 57169756 57169756 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr1:57169756G>A c.901G>A c.(901-903)Gaa>Aaa p.E301K SKCM 1 57169798 57169798 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 g.chr1:57169798G>A c.943G>A c.(943-945)Gac>Aac p.D315N SKCM 1 57169911 57169911 + Missense_Mutation SNP G G A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 g.chr1:57169911G>A c.1056G>A c.(1054-1056)atG>atA p.M352I SKCM 1 57169951 57169951 + Missense_Mutation SNP C C T TCGA-EB-A5SG-06A-11D-A30X-08 TCGA-EB-A5SG-10A-01D-A30X-08 g.chr1:57169951C>T c.1096C>T c.(1096-1098)Cat>Tat p.H366Y SKCM 1 57169955 57169955 + Missense_Mutation SNP C C T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 g.chr1:57169955C>T c.1100C>T c.(1099-1101)cCa>cTa p.P367L SKCM 1 57169962 57169962 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 g.chr1:57169962G>A c.1107G>A c.(1105-1107)agG>agA p.R369R SKCM 1 57169985 57169985 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 g.chr1:57169985G>A c.1130G>A c.(1129-1131)aGc>aAc p.S377N SKCM 1 57169990 57169990 + Nonsense_Mutation SNP A A T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr1:57169990A>T c.1135A>T c.(1135-1137)Aaa>Taa p.K379* SKCM 1 57170030 57170030 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 g.chr1:57170030C>T c.1175C>T c.(1174-1176)cCc>cTc p.P392L SKCM 1 57170069 57170069 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 g.chr1:57170069G>A c.1214G>A c.(1213-1215)gGa>gAa p.G405E SKCM 1 57170073 57170073 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr1:57170073C>T c.1218C>T c.(1216-1218)atC>atT p.I406I SKCM 1 57170074 57170074 + Nonsense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr1:57170074C>T c.1219C>T c.(1219-1221)Cga>Tga p.R407* SKCM 1 57171786 57171786 + Missense_Mutation SNP C C T TCGA-EE-A2MU-06A-21D-A196-08 TCGA-EE-A2MU-10A-01D-A198-08 g.chr1:57171786C>T c.1315C>T c.(1315-1317)Cgt>Tgt p.R439C SKCM 1 57171796 57171796 + Missense_Mutation SNP G G A TCGA-EE-A183-06A-11D-A196-08 TCGA-EE-A183-10A-01D-A198-08 g.chr1:57171796G>A c.1325G>A c.(1324-1326)aGa>aAa p.R442K SKCM 1 57171796 57171796 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 g.chr1:57171796G>A c.1325G>A c.(1324-1326)aGa>aAa p.R442K SKCM 1 57171824 57171824 + Silent SNP G G A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 g.chr1:57171824G>A c.1353G>A c.(1351-1353)gtG>gtA p.V451V SKCM 1 57171830 57171830 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr1:57171830G>A c.1359G>A c.(1357-1359)atG>atA p.M453I SKCM 1 57173217 57173217 + Missense_Mutation SNP G G A TCGA-EE-A2M5-06A-12D-A197-08 TCGA-EE-A2M5-10A-01D-A199-08 g.chr1:57173217G>A c.1490G>A c.(1489-1491)aGa>aAa p.R497K SKCM 1 57173220 57173220 + Missense_Mutation SNP C C T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 g.chr1:57173220C>T c.1493C>T c.(1492-1494)cCa>cTa p.P498L SKCM 1 57173265 57173265 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 g.chr1:57173265C>T c.1538C>T c.(1537-1539)tCt>tTt p.S513F SKCM 1 57173338 57173338 + Missense_Mutation SNP G G A TCGA-EE-A2A0-06A-11D-A196-08 TCGA-EE-A2A0-10A-01D-A198-08 g.chr1:57173338G>A c.1611G>A c.(1609-1611)atG>atA p.M537I

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 1 57169726 57169726 single base substitution G A missense_variant E291K 871G>A BLCA-CN 1 57171867 57171867 single base substitution C G missense_variant L466V 1396C>G BLCA-US 1 57161760 57161760 single base substitution G A missense_variant R239H 716G>A BLCA-US 1 57169763 57169763 single base substitution C T missense_variant T303I 908C>T BLCA-US 1 57169954 57169954 single base substitution C A missense_variant P367T 1099C>A BLCA-US 1 57171852 57171852 single base substitution G A missense_variant D461N 1381G>A BOCA-FR 1 57165120 57165120 single base substitution G C intron_variant BRCA-EU 1 57106712 57106712 single base substitution A C upstream_gene_variant BRCA-EU 1 57107291 57107291 single base substitution C T upstream_gene_variant BRCA-EU 1 57110092 57110092 single base substitution C T upstream_gene_variant BRCA-EU 1 57112254 57112254 single base substitution G A intron_variant BRCA-EU 1 57112777 57112777 single base substitution C A intron_variant BRCA-EU 1 57113091 57113091 single base substitution T C intron_variant BRCA-EU 1 57113101 57113101 single base substitution T C intron_variant BRCA-EU 1 57114053 57114053 single base substitution G C intron_variant BRCA-EU 1 57115985 57115985 single base substitution A G intron_variant BRCA-EU 1 57116765 57116765 single base substitution C T intron_variant BRCA-EU 1 57117443 57117443 single base substitution C A intron_variant BRCA-EU 1 57120934 57120934 insertion of <=200bp - TA intron_variant BRCA-EU 1 57121236 57121236 insertion of <=200bp - T intron_variant BRCA-EU 1 57122790 57122790 single base substitution C G intron_variant BRCA-EU 1 57124515 57124515 single base substitution C G intron_variant BRCA-EU 1 57124648 57124648 single base substitution T A intron_variant BRCA-EU 1 57124890 57124890 single base substitution G T intron_variant BRCA-EU 1 57124891 57124891 single base substitution G T intron_variant BRCA-EU 1 57125670 57125670 single base substitution T A intron_variant BRCA-EU 1 57126986 57126986 single base substitution G A intron_variant BRCA-EU 1 57127929 57127929 deletion of <=200bp T - intron_variant BRCA-EU 1 57130231 57130231 single base substitution G T intron_variant BRCA-EU 1 57130323 57130323 single base substitution A T intron_variant BRCA-EU 1 57132073 57132073 single base substitution A C intron_variant BRCA-EU 1 57132527 57132527 single base substitution A G intron_variant BRCA-EU 1 57132640 57132640 single base substitution A G intron_variant BRCA-EU 1 57132808 57132808 single base substitution G C intron_variant BRCA-EU 1 57135818 57135818 single base substitution C G intron_variant BRCA-EU 1 57136539 57136539 single base substitution C T intron_variant BRCA-EU 1 57136696 57136696 single base substitution G C intron_variant BRCA-EU 1 57137216 57137219 deletion of <=200bp TTTG - intron_variant BRCA-EU 1 57137780 57137780 insertion of <=200bp - T intron_variant BRCA-EU 1 57139854 57139854 single base substitution G A intron_variant BRCA-EU 1 57141965 57141965 single base substitution C A intron_variant BRCA-EU 1 57143522 57143522 single base substitution T G intron_variant BRCA-EU 1 57145048 57145048 single base substitution A C intron_variant BRCA-EU 1 57145155 57145155 single base substitution C T intron_variant BRCA-EU 1 57145608 57145608 single base substitution C T intron_variant BRCA-EU 1 57146429 57146429 single base substitution C G intron_variant BRCA-EU 1 57149110 57149110 single base substitution C T intron_variant BRCA-EU 1 57149193 57149193 single base substitution C A intron_variant BRCA-EU 1 57149585 57149585 single base substitution G C intron_variant BRCA-EU 1 57151126 57151126 single base substitution C G intron_variant BRCA-EU 1 57151850 57151850 single base substitution C A intron_variant BRCA-EU 1 57153432 57153432 single base substitution C G intron_variant BRCA-EU 1 57153494 57153494 single base substitution G A intron_variant BRCA-EU 1 57154785 57154785 single base substitution C T intron_variant BRCA-EU 1 57155985 57155985 single base substitution C T intron_variant BRCA-EU 1 57156201 57156201 single base substitution T C intron_variant BRCA-EU 1 57156734 57156734 single base substitution G C intron_variant BRCA-EU 1 57157901 57157901 single base substitution C T intron_variant BRCA-EU 1 57158215 57158215 single base substitution C G intron_variant BRCA-EU 1 57158339 57158339 single base substitution C G intron_variant BRCA-EU 1 57159326 57159326 deletion of <=200bp A - intron_variant BRCA-EU 1 57159600 57159600 single base substitution T C intron_variant BRCA-EU 1 57160071 57160071 single base substitution G A intron_variant BRCA-EU 1 57161260 57161260 single base substitution A T intron_variant BRCA-EU 1 57161867 57161867 single base substitution T C intron_variant BRCA-EU 1 57162717 57162717 single base substitution C G intron_variant BRCA-EU 1 57164325 57164325 single base substitution A C intron_variant BRCA-EU 1 57164469 57164469 single base substitution G A intron_variant BRCA-EU 1 57165796 57165796 single base substitution G A intron_variant BRCA-EU 1 57166123 57166123 single base substitution C T intron_variant BRCA-EU 1 57166184 57166184 single base substitution A G intron_variant BRCA-EU 1 57166221 57166221 single base substitution T G intron_variant BRCA-EU 1 57166444 57166444 single base substitution C G intron_variant BRCA-EU 1 57168968 57168968 single base substitution G C intron_variant BRCA-EU 1 57169196 57169196 single base substitution G A intron_variant BRCA-EU 1 57169281 57169281 single base substitution A C intron_variant BRCA-EU 1 57170523 57170523 single base substitution G A intron_variant BRCA-EU 1 57171061 57171061 single base substitution T G intron_variant BRCA-EU 1 57174496 57174496 single base substitution T C 3_prime_UTR_variant BRCA-EU 1 57176122 57176122 single base substitution T C 3_prime_UTR_variant BRCA-EU 1 57176677 57176677 single base substitution T C 3_prime_UTR_variant BRCA-EU 1 57176810 57176810 single base substitution C T 3_prime_UTR_variant BRCA-EU 1 57177677 57177677 single base substitution C G 3_prime_UTR_variant BRCA-EU 1 57178229 57178229 single base substitution A G 3_prime_UTR_variant BRCA-EU 1 57178523 57178523 insertion of <=200bp - A 3_prime_UTR_variant BRCA-EU 1 57178632 57178632 single base substitution G C 3_prime_UTR_variant BRCA-EU 1 57179223 57179223 single base substitution G T 3_prime_UTR_variant BRCA-EU 1 57179224 57179224 single base substitution G A 3_prime_UTR_variant BRCA-EU 1 57179638 57179638 single base substitution C T 3_prime_UTR_variant BRCA-EU 1 57181018 57181018 single base substitution C T downstream_gene_variant BRCA-EU 1 57181436 57181436 single base substitution G A downstream_gene_variant BRCA-EU 1 57181666 57181666 single base substitution T C downstream_gene_variant BRCA-EU 1 57181852 57181852 single base substitution G C downstream_gene_variant BRCA-EU 1 57183472 57183472 single base substitution A G downstream_gene_variant BRCA-EU 1 57183874 57183874 single base substitution G A downstream_gene_variant BRCA-EU 1 57184897 57184897 single base substitution C G downstream_gene_variant BRCA-EU 1 57185766 57185766 single base substitution T C downstream_gene_variant BRCA-FR 1 57107291 57107291 single base substitution C T upstream_gene_variant BRCA-FR 1 57112777 57112777 single base substitution C A intron_variant BRCA-FR 1 57113101 57113101 single base substitution T C intron_variant BRCA-FR 1 57128437 57128437 single base substitution T G intron_variant BRCA-FR 1 57137391 57137391 single base substitution G T intron_variant BRCA-FR 1 57151850 57151850 single base substitution C A intron_variant BRCA-FR 1 57153432 57153432 single base substitution C G intron_variant BRCA-FR 1 57183874 57183874 single base substitution G A downstream_gene_variant BRCA-FR 1 57184897 57184897 single base substitution C G downstream_gene_variant BRCA-UK 1 57169666 57169666 single base substitution G T missense_variant D271Y 811G>T BRCA-UK 1 57173234 57173234 single base substitution G C missense_variant D503H 1507G>C BRCA-US 1 57159438 57159438 single base substitution G T missense_variant G159V 476G>T BRCA-US 1 57169877 57169877 single base substitution A C missense_variant Y341S 1022A>C BRCA-US 1 57185280 57185280 single base substitution G A downstream_gene_variant BRCA-US 1 57185885 57185885 single base substitution C T downstream_gene_variant BTCA-JP 1 57161888 57161888 single base substitution A G intron_variant BTCA-JP 1 57185757 57185757 single base substitution T A downstream_gene_variant CESC-US 1 57158046 57158046 single base substitution G A missense_variant A116T 346G>A CESC-US 1 57161821 57161821 single base substitution C G missense_variant I259M 777C>G CESC-US 1 57173318 57173318 single base substitution C T missense_variant R531C 1591C>T CESC-US 1 57185933 57185933 single base substitution C T downstream_gene_variant CLLE-ES 1 57108642 57108642 single base substitution A G upstream_gene_variant CLLE-ES 1 57124615 57124615 single base substitution G C intron_variant CLLE-ES 1 57129694 57129694 single base substitution A G intron_variant CLLE-ES 1 57137899 57137899 single base substitution T C intron_variant CLLE-ES 1 57148263 57148263 single base substitution A G intron_variant CLLE-ES 1 57158052 57158052 single base substitution C T missense_variant R118W 352C>T CLLE-ES 1 57161056 57161056 single base substitution G A intron_variant CLLE-ES 1 57166280 57166280 single base substitution C T intron_variant CLLE-ES 1 57167739 57167739 single base substitution C T intron_variant CLLE-ES 1 57176488 57176488 single base substitution G A 3_prime_UTR_variant CLLE-ES 1 57183128 57183128 single base substitution G A downstream_gene_variant COAD-US 1 57157094 57157094 deletion of <=200bp T - frameshift_variant D88 COAD-US 1 57159517 57159517 single base substitution C T synonymous_variant I185I 555C>T COAD-US 1 57170075 57170075 single base substitution G A missense_variant R407Q 1220G>A COAD-US 1 57171844 57171844 single base substitution A G missense_variant Y458C 1373A>G COAD-US 1 57173254 57173254 single base substitution C T synonymous_variant S509S 1527C>T COAD-US 1 57173269 57173270 deletion of <=200bp CT - frameshift_variant GS514 COAD-US 1 57173295 57173295 single base substitution G A missense_variant S523N 1568G>A COAD-US 1 57185715 57185715 single base substitution G T downstream_gene_variant COAD-US 1 57185880 57185880 single base substitution T G downstream_gene_variant COCA-CN 1 57158002 57158002 single base substitution C A intron_variant COCA-CN 1 57158248 57158248 single base substitution C A intron_variant COCA-CN 1 57158268 57158268 single base substitution C T intron_variant COCA-CN 1 57169559 57169559 single base substitution A C intron_variant COCA-CN 1 57169882 57169882 single base substitution G A missense_variant A343T 1027G>A COCA-CN 1 57170075 57170075 single base substitution G A missense_variant R407Q 1220G>A EOPC-DE 1 57108314 57108314 single base substitution T A upstream_gene_variant ESAD-UK 1 57106878 57106878 single base substitution T G upstream_gene_variant ESAD-UK 1 57106936 57106936 single base substitution C A upstream_gene_variant ESAD-UK 1 57110511 57110511 single base substitution T G upstream_gene_variant ESAD-UK 1 57111008 57111008 single base substitution G A 5_prime_UTR_variant ESAD-UK 1 57113219 57113219 single base substitution G C intron_variant ESAD-UK 1 57113759 57113759 single base substitution A T intron_variant ESAD-UK 1 57114896 57114896 single base substitution A C intron_variant ESAD-UK 1 57115337 57115337 deletion of <=200bp T - intron_variant ESAD-UK 1 57115376 57115376 single base substitution T G intron_variant ESAD-UK 1 57116385 57116385 single base substitution C T intron_variant ESAD-UK 1 57117750 57117750 single base substitution A C intron_variant ESAD-UK 1 57118123 57118123 single base substitution G A intron_variant ESAD-UK 1 57118403 57118403 single base substitution A C intron_variant ESAD-UK 1 57118414 57118414 single base substitution A G intron_variant ESAD-UK 1 57118897 57118897 single base substitution A G intron_variant ESAD-UK 1 57119031 57119031 single base substitution T C intron_variant ESAD-UK 1 57119795 57119795 single base substitution T G intron_variant ESAD-UK 1 57120404 57120404 single base substitution T A intron_variant ESAD-UK 1 57120895 57120895 single base substitution T A intron_variant ESAD-UK 1 57122892 57122892 deletion of <=200bp A - intron_variant ESAD-UK 1 57123583 57123583 single base substitution C T intron_variant ESAD-UK 1 57124410 57124410 deletion of <=200bp T - intron_variant ESAD-UK 1 57124413 57124413 single base substitution T C intron_variant ESAD-UK 1 57125435 57125435 single base substitution G C intron_variant ESAD-UK 1 57125441 57125441 single base substitution C T intron_variant ESAD-UK 1 57125781 57125781 deletion of <=200bp T - intron_variant ESAD-UK 1 57126294 57126294 single base substitution A T intron_variant ESAD-UK 1 57128022 57128022 single base substitution A C intron_variant ESAD-UK 1 57128516 57128516 single base substitution A T intron_variant ESAD-UK 1 57128586 57128586 single base substitution T C intron_variant ESAD-UK 1 57128918 57128918 single base substitution T C intron_variant ESAD-UK 1 57128950 57128950 single base substitution C T intron_variant ESAD-UK 1 57129358 57129358 single base substitution A G intron_variant ESAD-UK 1 57130416 57130416 single base substitution G A intron_variant ESAD-UK 1 57131754 57131754 single base substitution T G intron_variant ESAD-UK 1 57131820 57131820 single base substitution G A intron_variant ESAD-UK 1 57133089 57133089 single base substitution C T intron_variant ESAD-UK 1 57134429 57134429 single base substitution G A intron_variant ESAD-UK 1 57134728 57134728 single base substitution G T intron_variant ESAD-UK 1 57135346 57135346 single base substitution C T intron_variant ESAD-UK 1 57135992 57135992 single base substitution T C intron_variant ESAD-UK 1 57136596 57136596 single base substitution C T intron_variant ESAD-UK 1 57136850 57136850 single base substitution G A intron_variant ESAD-UK 1 57137444 57137444 single base substitution A G intron_variant ESAD-UK 1 57137461 57137461 single base substitution G A intron_variant ESAD-UK 1 57138022 57138022 single base substitution T G intron_variant ESAD-UK 1 57138049 57138049 single base substitution C G intron_variant ESAD-UK 1 57140146 57140146 single base substitution C T stop_gained R63* 187C>T ESAD-UK 1 57140515 57140515 single base substitution T G intron_variant ESAD-UK 1 57140762 57140762 single base substitution G T intron_variant ESAD-UK 1 57140868 57140868 single base substitution T C intron_variant ESAD-UK 1 57141373 57141373 single base substitution T G intron_variant ESAD-UK 1 57141390 57141390 single base substitution C T intron_variant ESAD-UK 1 57141782 57141782 single base substitution A G intron_variant ESAD-UK 1 57142237 57142237 single base substitution A G intron_variant ESAD-UK 1 57142864 57142864 single base substitution T A intron_variant ESAD-UK 1 57142891 57142891 single base substitution T G intron_variant ESAD-UK 1 57144089 57144089 single base substitution A G intron_variant ESAD-UK 1 57144825 57144825 single base substitution G C intron_variant ESAD-UK 1 57144959 57144959 single base substitution T G intron_variant ESAD-UK 1 57145040 57145040 single base substitution C G intron_variant ESAD-UK 1 57145758 57145758 single base substitution A T intron_variant ESAD-UK 1 57146038 57146038 single base substitution T A intron_variant ESAD-UK 1 57148364 57148364 single base substitution A C intron_variant ESAD-UK 1 57148904 57148904 single base substitution C T intron_variant ESAD-UK 1 57149585 57149585 single base substitution G C intron_variant ESAD-UK 1 57150136 57150136 single base substitution A C intron_variant ESAD-UK 1 57150422 57150422 single base substitution C T intron_variant ESAD-UK 1 57150954 57150954 single base substitution C A intron_variant ESAD-UK 1 57151099 57151099 single base substitution A C intron_variant ESAD-UK 1 57151863 57151863 single base substitution C A intron_variant ESAD-UK 1 57151887 57151887 single base substitution A C intron_variant ESAD-UK 1 57152211 57152211 single base substitution T G intron_variant ESAD-UK 1 57152822 57152822 single base substitution G T intron_variant ESAD-UK 1 57155511 57155511 single base substitution A T intron_variant ESAD-UK 1 57155720 57155720 single base substitution G A intron_variant ESAD-UK 1 57156112 57156112 single base substitution G A intron_variant ESAD-UK 1 57157380 57157380 single base substitution G A intron_variant ESAD-UK 1 57157518 57157518 single base substitution T C intron_variant ESAD-UK 1 57160839 57160839 single base substitution C A intron_variant ESAD-UK 1 57160841 57160841 single base substitution A C intron_variant ESAD-UK 1 57160917 57160917 single base substitution A G intron_variant ESAD-UK 1 57161089 57161089 single base substitution C T intron_variant ESAD-UK 1 57161258 57161258 single base substitution A C intron_variant ESAD-UK 1 57162642 57162642 single base substitution C A intron_variant ESAD-UK 1 57163477 57163477 single base substitution A T intron_variant ESAD-UK 1 57163732 57163732 single base substitution G C intron_variant ESAD-UK 1 57163937 57163937 single base substitution A T intron_variant ESAD-UK 1 57164503 57164503 single base substitution C T intron_variant ESAD-UK 1 57164759 57164759 single base substitution C A intron_variant ESAD-UK 1 57165081 57165081 single base substitution G A intron_variant ESAD-UK 1 57166075 57166075 single base substitution C A intron_variant ESAD-UK 1 57166638 57166638 single base substitution T C intron_variant ESAD-UK 1 57167075 57167075 single base substitution A T intron_variant ESAD-UK 1 57168689 57168689 single base substitution G A intron_variant ESAD-UK 1 57168817 57168817 single base substitution A G intron_variant ESAD-UK 1 57169052 57169052 single base substitution A C intron_variant ESAD-UK 1 57169075 57169075 single base substitution A T intron_variant ESAD-UK 1 57169367 57169367 single base substitution A G intron_variant ESAD-UK 1 57170075 57170075 single base substitution G A missense_variant R407Q 1220G>A ESAD-UK 1 57170242 57170242 single base substitution T G intron_variant ESAD-UK 1 57170746 57170746 single base substitution G A intron_variant ESAD-UK 1 57170769 57170769 single base substitution C A intron_variant ESAD-UK 1 57170833 57170833 single base substitution T G intron_variant ESAD-UK 1 57171057 57171057 deletion of <=200bp T - intron_variant ESAD-UK 1 57172511 57172511 single base substitution G T intron_variant ESAD-UK 1 57175151 57175151 single base substitution T G 3_prime_UTR_variant ESAD-UK 1 57175535 57175535 single base substitution C G 3_prime_UTR_variant ESAD-UK 1 57178398 57178398 single base substitution G T 3_prime_UTR_variant ESAD-UK 1 57180529 57180529 single base substitution T C 3_prime_UTR_variant ESAD-UK 1 57181214 57181214 single base substitution T G downstream_gene_variant ESAD-UK 1 57181485 57181485 single base substitution T C downstream_gene_variant ESAD-UK 1 57181617 57181617 single base substitution A C downstream_gene_variant ESAD-UK 1 57181617 57181617 single base substitution A G downstream_gene_variant ESAD-UK 1 57182232 57182232 single base substitution T G downstream_gene_variant ESAD-UK 1 57182603 57182603 single base substitution A C downstream_gene_variant ESAD-UK 1 57183909 57183909 single base substitution A C downstream_gene_variant ESAD-UK 1 57184626 57184626 single base substitution A G downstream_gene_variant ESAD-UK 1 57185078 57185078 single base substitution C T downstream_gene_variant ESAD-UK 1 57185777 57185777 deletion of <=200bp T - downstream_gene_variant ESCA-CN 1 57140190 57140190 single base substitution C G missense_variant I77M 231C>G ESCA-CN 1 57158046 57158046 single base substitution G T missense_variant A116S 346G>T ESCA-CN 1 57170229 57170229 single base substitution T C intron_variant ESCA-CN 1 57185818 57185818 single base substitution A G downstream_gene_variant LAML-KR 1 57124657 57124657 single base substitution G T intron_variant LAML-KR 1 57157067 57157067 single base substitution A G splice_region_variant LAML-KR 1 57158293 57158293 single base substitution G A intron_variant LAML-KR 1 57171870 57171870 single base substitution T C synonymous_variant L467L 1399T>C LGG-US 1 57185712 57185712 single base substitution A G downstream_gene_variant LICA-FR 1 57117520 57117520 deletion of <=200bp T - intron_variant LICA-FR 1 57127099 57127099 single base substitution T C intron_variant LICA-FR 1 57129142 57129142 single base substitution G C intron_variant LICA-FR 1 57133021 57133021 single base substitution A G intron_variant LICA-FR 1 57139042 57139042 single base substitution G A intron_variant LICA-FR 1 57142920 57142920 single base substitution C G intron_variant LICA-FR 1 57144367 57144368 deletion of <=200bp TT - intron_variant LICA-FR 1 57163753 57163754 deletion of <=200bp TT - intron_variant LICA-FR 1 57170140 57170140 single base substitution G T stop_gained E429* 1285G>T LICA-FR 1 57171069 57171069 insertion of <=200bp - TTT intron_variant LICA-FR 1 57182840 57182840 single base substitution A T downstream_gene_variant LIHC-US 1 57161707 57161707 single base substitution G A synonymous_variant T221T 663G>A LIHC-US 1 57173335 57173335 single base substitution C A synonymous_variant T536T 1608C>A LINC-JP 1 57113641 57113641 single base substitution T C intron_variant LINC-JP 1 57118208 57118208 single base substitution T C intron_variant LINC-JP 1 57124281 57124281 single base substitution G T intron_variant LINC-JP 1 57124285 57124285 single base substitution G T intron_variant LINC-JP 1 57130390 57130390 single base substitution A G intron_variant LINC-JP 1 57132012 57132012 single base substitution A C intron_variant LINC-JP 1 57137028 57137028 single base substitution C T intron_variant LINC-JP 1 57149765 57149765 single base substitution C G intron_variant LINC-JP 1 57159806 57159806 single base substitution A G intron_variant LINC-JP 1 57170127 57170127 single base substitution G A synonymous_variant K424K 1272G>A LINC-JP 1 57177617 57177617 single base substitution G T 3_prime_UTR_variant LINC-JP 1 57179348 57179348 single base substitution A C 3_prime_UTR_variant LINC-JP 1 57182063 57182063 single base substitution T G downstream_gene_variant LINC-JP 1 57184955 57184955 single base substitution C G downstream_gene_variant LIRI-JP 1 57107332 57107332 single base substitution A G upstream_gene_variant LIRI-JP 1 57109886 57109886 single base substitution T C upstream_gene_variant LIRI-JP 1 57113538 57113538 single base substitution A G intron_variant LIRI-JP 1 57114352 57114352 single base substitution A T intron_variant LIRI-JP 1 57118793 57118793 single base substitution A G intron_variant LIRI-JP 1 57123360 57123360 single base substitution A G intron_variant LIRI-JP 1 57128718 57128718 single base substitution A G intron_variant LIRI-JP 1 57130572 57130572 single base substitution C T intron_variant LIRI-JP 1 57130576 57130576 single base substitution C T intron_variant LIRI-JP 1 57131188 57131188 single base substitution T G intron_variant LIRI-JP 1 57131682 57131682 single base substitution T A intron_variant LIRI-JP 1 57132130 57132130 single base substitution C T intron_variant LIRI-JP 1 57133387 57133387 single base substitution T A intron_variant LIRI-JP 1 57134105 57134105 single base substitution A G intron_variant LIRI-JP 1 57135454 57135454 single base substitution A G intron_variant LIRI-JP 1 57135728 57135728 insertion of <=200bp - G intron_variant LIRI-JP 1 57142115 57142115 single base substitution A G intron_variant LIRI-JP 1 57143920 57143920 single base substitution A G intron_variant LIRI-JP 1 57144939 57144939 single base substitution T C intron_variant LIRI-JP 1 57145095 57145095 single base substitution A G intron_variant LIRI-JP 1 57150722 57150722 single base substitution G T intron_variant LIRI-JP 1 57150967 57150967 single base substitution G T intron_variant LIRI-JP 1 57154048 57154048 single base substitution T A intron_variant LIRI-JP 1 57154300 57154300 single base substitution C T intron_variant LIRI-JP 1 57162162 57162162 single base substitution T G intron_variant LIRI-JP 1 57169280 57169280 single base substitution T C intron_variant LIRI-JP 1 57171087 57171087 single base substitution T G intron_variant LIRI-JP 1 57172341 57172341 single base substitution T C intron_variant LIRI-JP 1 57172959 57172959 single base substitution G A intron_variant LIRI-JP 1 57176257 57176257 single base substitution T C 3_prime_UTR_variant LIRI-JP 1 57176351 57176351 single base substitution T C 3_prime_UTR_variant LIRI-JP 1 57178305 57178305 single base substitution A G 3_prime_UTR_variant LIRI-JP 1 57180869 57180869 single base substitution T C 3_prime_UTR_variant LIRI-JP 1 57181012 57181012 single base substitution T G downstream_gene_variant LIRI-JP 1 57181222 57181222 single base substitution T C downstream_gene_variant LIRI-JP 1 57184487 57184487 single base substitution G T downstream_gene_variant LIRI-JP 1 57185227 57185227 single base substitution C T downstream_gene_variant LIRI-JP 1 57185731 57185731 single base substitution A T downstream_gene_variant LIRI-JP 1 57185886 57185886 single base substitution G A downstream_gene_variant LUSC-KR 1 57106569 57106569 single base substitution C A upstream_gene_variant LUSC-KR 1 57109520 57109520 single base substitution G C upstream_gene_variant LUSC-KR 1 57110057 57110057 single base substitution T C upstream_gene_variant LUSC-KR 1 57114795 57114795 single base substitution T C intron_variant LUSC-KR 1 57115723 57115723 single base substitution G T intron_variant LUSC-KR 1 57116431 57116431 single base substitution A C intron_variant LUSC-KR 1 57117490 57117490 single base substitution T A intron_variant LUSC-KR 1 57117831 57117831 single base substitution G T intron_variant LUSC-KR 1 57124683 57124683 single base substitution C A intron_variant LUSC-KR 1 57126810 57126810 single base substitution G T intron_variant LUSC-KR 1 57133074 57133074 single base substitution C T intron_variant LUSC-KR 1 57135828 57135828 single base substitution A C intron_variant LUSC-KR 1 57136766 57136766 single base substitution G A intron_variant LUSC-KR 1 57137250 57137250 single base substitution A G intron_variant LUSC-KR 1 57157123 57157123 single base substitution G T missense_variant G98V 293G>T LUSC-KR 1 57160229 57160229 single base substitution G C intron_variant LUSC-KR 1 57161134 57161134 single base substitution G T intron_variant LUSC-KR 1 57162984 57162984 single base substitution G T intron_variant LUSC-KR 1 57167025 57167025 single base substitution G T intron_variant LUSC-KR 1 57168227 57168227 single base substitution A G intron_variant LUSC-KR 1 57171122 57171122 single base substitution G T intron_variant LUSC-KR 1 57171123 57171123 single base substitution G T intron_variant LUSC-KR 1 57174738 57174738 single base substitution A T 3_prime_UTR_variant LUSC-KR 1 57178800 57178800 single base substitution A G 3_prime_UTR_variant LUSC-KR 1 57179176 57179176 single base substitution A G 3_prime_UTR_variant LUSC-KR 1 57180094 57180094 single base substitution A T 3_prime_UTR_variant LUSC-KR 1 57181291 57181291 single base substitution A G downstream_gene_variant LUSC-KR 1 57183074 57183074 single base substitution G A downstream_gene_variant LUSC-KR 1 57185521 57185521 single base substitution G T downstream_gene_variant LUSC-US 1 57140174 57140174 single base substitution G A missense_variant R72H 215G>A LUSC-US 1 57157066 57157066 single base substitution G A splice_acceptor_variant LUSC-US 1 57159485 57159485 single base substitution G C missense_variant G175R 523G>C LUSC-US 1 57170117 57170117 single base substitution G T missense_variant R421L 1262G>T LUSC-US 1 57173172 57173172 single base substitution G C missense_variant G482A 1445G>C MALY-DE 1 57106256 57106256 single base substitution T G upstream_gene_variant MALY-DE 1 57107511 57107511 deletion of <=200bp T - upstream_gene_variant MALY-DE 1 57108105 57108105 single base substitution A G upstream_gene_variant MALY-DE 1 57108903 57108903 single base substitution A C upstream_gene_variant MALY-DE 1 57111993 57111993 single base substitution T C intron_variant MALY-DE 1 57112357 57112357 single base substitution C T intron_variant MALY-DE 1 57112944 57112944 single base substitution T G intron_variant MALY-DE 1 57113551 57113551 single base substitution A G intron_variant MALY-DE 1 57117868 57117868 single base substitution T A intron_variant MALY-DE 1 57127435 57127435 single base substitution G A intron_variant MALY-DE 1 57128002 57128002 single base substitution A C intron_variant MALY-DE 1 57130307 57130307 single base substitution A C intron_variant MALY-DE 1 57131294 57131294 single base substitution T C intron_variant MALY-DE 1 57132249 57132249 single base substitution T C intron_variant MALY-DE 1 57137780 57137780 insertion of <=200bp - T intron_variant MALY-DE 1 57137857 57137857 single base substitution C A intron_variant MALY-DE 1 57140711 57140711 deletion of <=200bp T - intron_variant MALY-DE 1 57143412 57143412 single base substitution C A intron_variant MALY-DE 1 57145760 57145760 single base substitution T A intron_variant MALY-DE 1 57147867 57147867 single base substitution A G intron_variant MALY-DE 1 57148768 57148776 deletion of <=200bp TTTTTTTTG - intron_variant MALY-DE 1 57148775 57148777 deletion of <=200bp TGC - intron_variant MALY-DE 1 57150072 57150072 single base substitution A C intron_variant MALY-DE 1 57153795 57153795 single base substitution C T intron_variant MALY-DE 1 57155626 57155626 single base substitution A T intron_variant MALY-DE 1 57159326 57159326 deletion of <=200bp A - intron_variant MALY-DE 1 57160039 57160039 single base substitution A G intron_variant MALY-DE 1 57160232 57160232 single base substitution G A intron_variant MALY-DE 1 57164097 57164097 single base substitution C A intron_variant MALY-DE 1 57165633 57165633 single base substitution G A intron_variant MALY-DE 1 57166911 57166911 single base substitution C T intron_variant MALY-DE 1 57175142 57175142 single base substitution A G 3_prime_UTR_variant MALY-DE 1 57179843 57179843 single base substitution C A 3_prime_UTR_variant MALY-DE 1 57180445 57180445 single base substitution T C 3_prime_UTR_variant MALY-DE 1 57184323 57184323 deletion of <=200bp A - downstream_gene_variant MALY-DE 1 57184939 57184939 single base substitution T G downstream_gene_variant MELA-AU 1 57106038 57106038 single base substitution C T upstream_gene_variant MELA-AU 1 57106072 57106072 single base substitution C T upstream_gene_variant MELA-AU 1 57106127 57106127 single base substitution C T upstream_gene_variant MELA-AU 1 57106851 57106851 single base substitution G A upstream_gene_variant MELA-AU 1 57106974 57106974 single base substitution C T upstream_gene_variant MELA-AU 1 57107320 57107320 single base substitution A T upstream_gene_variant MELA-AU 1 57107328 57107328 single base substitution A G upstream_gene_variant MELA-AU 1 57107846 57107846 single base substitution C T upstream_gene_variant MELA-AU 1 57108206 57108206 single base substitution A T upstream_gene_variant MELA-AU 1 57108362 57108362 single base substitution C T upstream_gene_variant MELA-AU 1 57108376 57108376 single base substitution C T upstream_gene_variant MELA-AU 1 57108462 57108462 single base substitution C T upstream_gene_variant MELA-AU 1 57108703 57108703 single base substitution T A upstream_gene_variant MELA-AU 1 57108722 57108722 single base substitution G A upstream_gene_variant MELA-AU 1 57108832 57108832 single base substitution C T upstream_gene_variant MELA-AU 1 57108926 57108926 single base substitution C T upstream_gene_variant MELA-AU 1 57109000 57109000 single base substitution A T upstream_gene_variant MELA-AU 1 57109010 57109010 single base substitution G A upstream_gene_variant MELA-AU 1 57109017 57109017 single base substitution T G upstream_gene_variant MELA-AU 1 57109098 57109098 single base substitution C T upstream_gene_variant MELA-AU 1 57109164 57109164 single base substitution C T upstream_gene_variant MELA-AU 1 57109292 57109292 single base substitution G A upstream_gene_variant MELA-AU 1 57109805 57109805 single base substitution A T upstream_gene_variant MELA-AU 1 57109826 57109826 single base substitution G A upstream_gene_variant MELA-AU 1 57109886 57109886 single base substitution T A upstream_gene_variant MELA-AU 1 57110110 57110110 single base substitution T C upstream_gene_variant MELA-AU 1 57111582 57111582 single base substitution C T intron_variant MELA-AU 1 57111613 57111613 single base substitution G A intron_variant MELA-AU 1 57111624 57111624 single base substitution G A intron_variant MELA-AU 1 57112049 57112049 single base substitution G A intron_variant MELA-AU 1 57112182 57112182 single base substitution G A intron_variant MELA-AU 1 57112290 57112290 single base substitution C T intron_variant MELA-AU 1 57112444 57112444 single base substitution C T intron_variant MELA-AU 1 57112777 57112777 single base substitution C T intron_variant MELA-AU 1 57113209 57113209 single base substitution T A intron_variant MELA-AU 1 57113292 57113292 single base substitution C T intron_variant MELA-AU 1 57113760 57113760 single base substitution A G intron_variant MELA-AU 1 57113911 57113911 single base substitution C T intron_variant MELA-AU 1 57113916 57113916 single base substitution G A intron_variant MELA-AU 1 57113935 57113935 single base substitution C T intron_variant MELA-AU 1 57114089 57114089 single base substitution A T intron_variant MELA-AU 1 57114232 57114232 single base substitution G A intron_variant MELA-AU 1 57114267 57114267 single base substitution C T intron_variant MELA-AU 1 57114323 57114323 single base substitution C T intron_variant MELA-AU 1 57114450 57114450 single base substitution G A intron_variant MELA-AU 1 57114554 57114554 single base substitution C T intron_variant MELA-AU 1 57114667 57114667 single base substitution C A intron_variant MELA-AU 1 57114758 57114758 single base substitution T C intron_variant MELA-AU 1 57114880 57114880 single base substitution G A intron_variant MELA-AU 1 57115054 57115054 single base substitution G A intron_variant MELA-AU 1 57115069 57115069 single base substitution G A intron_variant MELA-AU 1 57115266 57115266 single base substitution G A intron_variant MELA-AU 1 57115298 57115298 single base substitution C T intron_variant MELA-AU 1 57115308 57115308 single base substitution T C intron_variant MELA-AU 1 57115310 57115310 single base substitution C T intron_variant MELA-AU 1 57115311 57115311 single base substitution C T intron_variant MELA-AU 1 57115420 57115420 single base substitution G A intron_variant MELA-AU 1 57115463 57115463 single base substitution T A intron_variant MELA-AU 1 57115515 57115515 single base substitution C T intron_variant MELA-AU 1 57115543 57115543 single base substitution G A intron_variant MELA-AU 1 57115607 57115607 single base substitution A G intron_variant MELA-AU 1 57115663 57115663 single base substitution G A intron_variant MELA-AU 1 57115693 57115693 single base substitution G T intron_variant MELA-AU 1 57115787 57115787 single base substitution G A intron_variant MELA-AU 1 57115836 57115836 single base substitution G A intron_variant MELA-AU 1 57115935 57115935 single base substitution C T intron_variant MELA-AU 1 57116035 57116035 single base substitution T G intron_variant MELA-AU 1 57116337 57116337 single base substitution C T intron_variant MELA-AU 1 57116406 57116406 single base substitution G A intron_variant MELA-AU 1 57116725 57116725 single base substitution G A intron_variant MELA-AU 1 57116747 57116747 single base substitution C T intron_variant MELA-AU 1 57116776 57116776 single base substitution G A intron_variant MELA-AU 1 57116794 57116794 single base substitution G A intron_variant MELA-AU 1 57116852 57116852 single base substitution C A intron_variant MELA-AU 1 57116939 57116939 single base substitution G A intron_variant MELA-AU 1 57117172 57117172 single base substitution C T intron_variant MELA-AU 1 57117194 57117194 single base substitution C T intron_variant MELA-AU 1 57117464 57117464 single base substitution C T intron_variant MELA-AU 1 57117505 57117505 single base substitution G A intron_variant MELA-AU 1 57117564 57117564 single base substitution G A intron_variant MELA-AU 1 57117638 57117638 single base substitution C T intron_variant MELA-AU 1 57117699 57117699 single base substitution T G intron_variant MELA-AU 1 57118142 57118142 single base substitution C T intron_variant MELA-AU 1 57118178 57118178 single base substitution G A intron_variant MELA-AU 1 57118236 57118236 single base substitution C T intron_variant MELA-AU 1 57118304 57118304 single base substitution C T intron_variant MELA-AU 1 57118366 57118366 single base substitution G A intron_variant MELA-AU 1 57118495 57118495 single base substitution C T intron_variant MELA-AU 1 57118582 57118582 single base substitution A T intron_variant MELA-AU 1 57118753 57118753 single base substitution C T intron_variant MELA-AU 1 57118903 57118903 single base substitution G A intron_variant MELA-AU 1 57118984 57118984 single base substitution T C intron_variant MELA-AU 1 57119028 57119028 single base substitution G A intron_variant MELA-AU 1 57119082 57119082 single base substitution C T intron_variant MELA-AU 1 57119203 57119203 single base substitution C T intron_variant MELA-AU 1 57119224 57119224 single base substitution C T intron_variant MELA-AU 1 57119276 57119276 single base substitution G A intron_variant MELA-AU 1 57119596 57119596 single base substitution C T intron_variant MELA-AU 1 57119610 57119610 single base substitution C T intron_variant MELA-AU 1 57119614 57119614 single base substitution G A intron_variant MELA-AU 1 57119626 57119626 single base substitution G A intron_variant MELA-AU 1 57119651 57119651 single base substitution G A intron_variant MELA-AU 1 57119683 57119683 single base substitution G A intron_variant MELA-AU 1 57119790 57119790 single base substitution C T intron_variant MELA-AU 1 57119882 57119882 single base substitution C T intron_variant MELA-AU 1 57120047 57120047 single base substitution C T intron_variant MELA-AU 1 57120255 57120255 single base substitution G A intron_variant MELA-AU 1 57120266 57120266 single base substitution A G intron_variant MELA-AU 1 57120355 57120355 single base substitution C T intron_variant MELA-AU 1 57120680 57120680 single base substitution C T intron_variant MELA-AU 1 57120739 57120739 single base substitution C T intron_variant MELA-AU 1 57121013 57121013 single base substitution C T intron_variant MELA-AU 1 57121265 57121265 single base substitution G A intron_variant MELA-AU 1 57121266 57121266 single base substitution G A intron_variant MELA-AU 1 57121555 57121555 single base substitution G A intron_variant MELA-AU 1 57121556 57121556 single base substitution G A intron_variant MELA-AU 1 57121557 57121557 single base substitution G A intron_variant MELA-AU 1 57121651 57121651 single base substitution G A intron_variant MELA-AU 1 57121752 57121752 single base substitution G A intron_variant MELA-AU 1 57121766 57121766 single base substitution G A intron_variant MELA-AU 1 57121824 57121824 single base substitution G A intron_variant MELA-AU 1 57121829 57121829 single base substitution G C intron_variant MELA-AU 1 57121954 57121954 single base substitution G A intron_variant MELA-AU 1 57121999 57121999 single base substitution C T intron_variant MELA-AU 1 57122003 57122003 single base substitution A G intron_variant MELA-AU 1 57122020 57122020 single base substitution T A intron_variant MELA-AU 1 57122069 57122069 single base substitution G A intron_variant MELA-AU 1 57122199 57122199 single base substitution C T intron_variant MELA-AU 1 57122257 57122257 single base substitution C T intron_variant MELA-AU 1 57122288 57122288 single base substitution G A intron_variant MELA-AU 1 57122331 57122331 single base substitution G A intron_variant MELA-AU 1 57122385 57122385 single base substitution C T intron_variant MELA-AU 1 57122500 57122500 single base substitution C T intron_variant MELA-AU 1 57122502 57122502 single base substitution C T intron_variant MELA-AU 1 57122643 57122643 single base substitution G A intron_variant MELA-AU 1 57122780 57122780 single base substitution A G intron_variant MELA-AU 1 57122789 57122789 single base substitution C T intron_variant MELA-AU 1 57122799 57122799 single base substitution G A intron_variant MELA-AU 1 57122833 57122833 single base substitution C T intron_variant MELA-AU 1 57122845 57122845 single base substitution G A intron_variant MELA-AU 1 57122846 57122846 single base substitution G A intron_variant MELA-AU 1 57122881 57122881 single base substitution G A intron_variant MELA-AU 1 57122930 57122930 single base substitution A G intron_variant MELA-AU 1 57122953 57122953 single base substitution G A intron_variant MELA-AU 1 57122964 57122964 single base substitution G A intron_variant MELA-AU 1 57122972 57122972 single base substitution G A intron_variant MELA-AU 1 57123046 57123046 single base substitution A T intron_variant MELA-AU 1 57123098 57123098 single base substitution C T intron_variant MELA-AU 1 57123151 57123151 single base substitution C T intron_variant MELA-AU 1 57123195 57123195 single base substitution A C intron_variant MELA-AU 1 57123257 57123257 single base substitution G A intron_variant MELA-AU 1 57123433 57123433 single base substitution G A intron_variant MELA-AU 1 57123589 57123589 single base substitution G A intron_variant MELA-AU 1 57123641 57123641 single base substitution C T intron_variant MELA-AU 1 57123666 57123666 single base substitution G A intron_variant MELA-AU 1 57123809 57123809 single base substitution T A intron_variant MELA-AU 1 57123815 57123815 single base substitution T A intron_variant MELA-AU 1 57123816 57123816 single base substitution G A intron_variant MELA-AU 1 57123981 57123981 single base substitution G A intron_variant MELA-AU 1 57124086 57124086 single base substitution G A intron_variant MELA-AU 1 57124096 57124096 single base substitution A G intron_variant MELA-AU 1 57124134 57124134 single base substitution T G intron_variant MELA-AU 1 57124182 57124182 single base substitution G A intron_variant MELA-AU 1 57124232 57124232 single base substitution T A intron_variant MELA-AU 1 57124451 57124451 single base substitution C T intron_variant MELA-AU 1 57124476 57124476 single base substitution G A intron_variant MELA-AU 1 57124497 57124497 single base substitution C T intron_variant MELA-AU 1 57124602 57124602 single base substitution G A intron_variant MELA-AU 1 57124610 57124610 single base substitution G A intron_variant MELA-AU 1 57124673 57124673 single base substitution C T intron_variant MELA-AU 1 57124674 57124674 single base substitution C T intron_variant MELA-AU 1 57124754 57124754 single base substitution G A intron_variant MELA-AU 1 57124840 57124840 single base substitution C T intron_variant MELA-AU 1 57124908 57124908 single base substitution C T intron_variant MELA-AU 1 57125077 57125077 single base substitution G A intron_variant MELA-AU 1 57125258 57125258 single base substitution G A intron_variant MELA-AU 1 57125335 57125335 single base substitution C T intron_variant MELA-AU 1 57125402 57125402 single base substitution G A intron_variant MELA-AU 1 57125408 57125408 single base substitution C T intron_variant MELA-AU 1 57125477 57125477 single base substitution G A intron_variant MELA-AU 1 57125508 57125508 single base substitution G A intron_variant MELA-AU 1 57125510 57125510 single base substitution G A intron_variant MELA-AU 1 57125706 57125706 single base substitution C T intron_variant MELA-AU 1 57125713 57125713 single base substitution C T intron_variant MELA-AU 1 57125776 57125776 single base substitution C T intron_variant MELA-AU 1 57125999 57125999 single base substitution C T intron_variant MELA-AU 1 57126167 57126167 single base substitution C T intron_variant MELA-AU 1 57126229 57126229 single base substitution C T intron_variant MELA-AU 1 57126355 57126355 single base substitution G A intron_variant MELA-AU 1 57126408 57126408 single base substitution T A intron_variant MELA-AU 1 57126462 57126462 single base substitution G T intron_variant MELA-AU 1 57126577 57126577 single base substitution C T intron_variant MELA-AU 1 57126618 57126618 single base substitution G A intron_variant MELA-AU 1 57126788 57126788 single base substitution A C intron_variant MELA-AU 1 57127028 57127028 single base substitution C T intron_variant MELA-AU 1 57127037 57127037 single base substitution C T intron_variant MELA-AU 1 57127074 57127074 single base substitution G A intron_variant MELA-AU 1 57127093 57127093 single base substitution G A intron_variant MELA-AU 1 57127444 57127444 single base substitution C T intron_variant MELA-AU 1 57127656 57127656 single base substitution A T intron_variant MELA-AU 1 57127696 57127696 single base substitution C T intron_variant MELA-AU 1 57127716 57127716 single base substitution C T intron_variant MELA-AU 1 57127737 57127737 single base substitution A G intron_variant MELA-AU 1 57127758 57127758 single base substitution G A intron_variant MELA-AU 1 57127779 57127779 single base substitution C T intron_variant MELA-AU 1 57127934 57127934 single base substitution T A intron_variant MELA-AU 1 57128020 57128020 single base substitution C T intron_variant MELA-AU 1 57128095 57128095 single base substitution C T intron_variant MELA-AU 1 57128115 57128115 single base substitution G A intron_variant MELA-AU 1 57128118 57128118 single base substitution G A intron_variant MELA-AU 1 57128300 57128300 single base substitution C T intron_variant MELA-AU 1 57128351 57128351 single base substitution G A intron_variant MELA-AU 1 57128445 57128446 multiple base substitution (>=2bp and <=200bp) AA TT intron_variant MELA-AU 1 57128453 57128453 single base substitution G A intron_variant MELA-AU 1 57128522 57128522 single base substitution T G intron_variant MELA-AU 1 57128548 57128548 single base substitution G A intron_variant MELA-AU 1 57128570 57128570 single base substitution G A intron_variant MELA-AU 1 57128730 57128730 single base substitution G A intron_variant MELA-AU 1 57128733 57128733 single base substitution C G intron_variant MELA-AU 1 57128852 57128852 single base substitution G A intron_variant MELA-AU 1 57128865 57128865 single base substitution C T intron_variant MELA-AU 1 57128952 57128952 single base substitution G A intron_variant MELA-AU 1 57128971 57128971 single base substitution G A intron_variant MELA-AU 1 57129018 57129018 single base substitution C T intron_variant MELA-AU 1 57129046 57129046 single base substitution G A intron_variant MELA-AU 1 57129113 57129113 single base substitution C T intron_variant MELA-AU 1 57129130 57129130 single base substitution G A intron_variant MELA-AU 1 57129153 57129153 single base substitution C T intron_variant MELA-AU 1 57129399 57129399 single base substitution C T intron_variant MELA-AU 1 57129520 57129520 single base substitution C T intron_variant MELA-AU 1 57129606 57129606 single base substitution C T intron_variant MELA-AU 1 57129679 57129679 single base substitution G A intron_variant MELA-AU 1 57129993 57129993 single base substitution C T intron_variant MELA-AU 1 57130100 57130100 single base substitution G A intron_variant MELA-AU 1 57130109 57130109 single base substitution G A intron_variant MELA-AU 1 57130672 57130672 single base substitution C T intron_variant MELA-AU 1 57130700 57130700 single base substitution G A intron_variant MELA-AU 1 57130777 57130777 single base substitution C T intron_variant MELA-AU 1 57130781 57130781 single base substitution A T intron_variant MELA-AU 1 57130850 57130850 single base substitution G A intron_variant MELA-AU 1 57130972 57130972 single base substitution C T intron_variant MELA-AU 1 57131013 57131013 single base substitution C T intron_variant MELA-AU 1 57131017 57131017 single base substitution G A intron_variant MELA-AU 1 57131076 57131076 single base substitution C A intron_variant MELA-AU 1 57131295 57131295 single base substitution C T intron_variant MELA-AU 1 57131300 57131300 single base substitution G A intron_variant MELA-AU 1 57131322 57131322 single base substitution C T intron_variant MELA-AU 1 57131359 57131359 single base substitution C T intron_variant MELA-AU 1 57131523 57131523 single base substitution C T intron_variant MELA-AU 1 57131530 57131530 single base substitution C T intron_variant MELA-AU 1 57131545 57131545 single base substitution C T intron_variant MELA-AU 1 57131698 57131698 single base substitution C A intron_variant MELA-AU 1 57131766 57131766 single base substitution C T intron_variant MELA-AU 1 57131809 57131809 single base substitution C T intron_variant MELA-AU 1 57131835 57131835 single base substitution G A intron_variant MELA-AU 1 57131881 57131881 single base substitution G A intron_variant MELA-AU 1 57131958 57131958 single base substitution G A intron_variant MELA-AU 1 57132091 57132091 single base substitution G A intron_variant MELA-AU 1 57132266 57132266 single base substitution G A intron_variant MELA-AU 1 57132400 57132400 single base substitution G A intron_variant MELA-AU 1 57132475 57132475 single base substitution G A intron_variant MELA-AU 1 57132524 57132524 single base substitution C T intron_variant MELA-AU 1 57132680 57132680 single base substitution C T intron_variant MELA-AU 1 57132854 57132854 single base substitution G A intron_variant MELA-AU 1 57132907 57132907 single base substitution C T intron_variant MELA-AU 1 57132993 57132993 single base substitution C T intron_variant MELA-AU 1 57133029 57133029 single base substitution C T intron_variant MELA-AU 1 57133137 57133137 single base substitution A T intron_variant MELA-AU 1 57133333 57133333 single base substitution C T intron_variant MELA-AU 1 57133425 57133425 single base substitution C T intron_variant MELA-AU 1 57133470 57133470 single base substitution C T intron_variant MELA-AU 1 57133518 57133518 single base substitution G A intron_variant MELA-AU 1 57133576 57133576 single base substitution G A intron_variant MELA-AU 1 57133668 57133668 single base substitution T C intron_variant MELA-AU 1 57133848 57133848 single base substitution G A intron_variant MELA-AU 1 57133849 57133849 single base substitution G A intron_variant MELA-AU 1 57133851 57133851 single base substitution C T intron_variant MELA-AU 1 57133853 57133853 single base substitution C A intron_variant MELA-AU 1 57133991 57133991 single base substitution G T intron_variant MELA-AU 1 57134177 57134177 single base substitution C T intron_variant MELA-AU 1 57134216 57134216 single base substitution C T intron_variant MELA-AU 1 57134222 57134222 single base substitution C T intron_variant MELA-AU 1 57134246 57134246 single base substitution C T intron_variant MELA-AU 1 57134260 57134260 single base substitution G A intron_variant MELA-AU 1 57134328 57134328 single base substitution G A intron_variant MELA-AU 1 57134488 57134488 single base substitution G A intron_variant MELA-AU 1 57134630 57134630 single base substitution G A intron_variant MELA-AU 1 57134725 57134725 single base substitution G A intron_variant MELA-AU 1 57134835 57134835 single base substitution A T intron_variant MELA-AU 1 57134929 57134929 single base substitution C T intron_variant MELA-AU 1 57134953 57134953 single base substitution G A intron_variant MELA-AU 1 57134958 57134958 single base substitution C T intron_variant MELA-AU 1 57134968 57134968 single base substitution T A intron_variant MELA-AU 1 57135078 57135078 single base substitution A G intron_variant MELA-AU 1 57135286 57135286 single base substitution A T intron_variant MELA-AU 1 57135304 57135304 single base substitution C T intron_variant MELA-AU 1 57135460 57135460 single base substitution C T intron_variant MELA-AU 1 57135645 57135645 single base substitution C T intron_variant MELA-AU 1 57135647 57135647 single base substitution G A intron_variant MELA-AU 1 57135664 57135664 single base substitution C T intron_variant MELA-AU 1 57135722 57135722 single base substitution G A intron_variant MELA-AU 1 57135795 57135795 single base substitution G A intron_variant MELA-AU 1 57136020 57136020 single base substitution T C intron_variant MELA-AU 1 57136098 57136098 single base substitution G A intron_variant MELA-AU 1 57136137 57136137 single base substitution G A intron_variant MELA-AU 1 57136324 57136324 single base substitution G A intron_variant MELA-AU 1 57136385 57136385 single base substitution C T intron_variant MELA-AU 1 57136435 57136435 single base substitution G A intron_variant MELA-AU 1 57136481 57136481 single base substitution T C intron_variant MELA-AU 1 57136547 57136547 single base substitution C T intron_variant MELA-AU 1 57136605 57136605 single base substitution C T intron_variant MELA-AU 1 57136638 57136638 single base substitution C T intron_variant MELA-AU 1 57136645 57136645 single base substitution C T intron_variant MELA-AU 1 57136850 57136850 single base substitution G A intron_variant MELA-AU 1 57136875 57136875 single base substitution G A intron_variant MELA-AU 1 57136891 57136891 single base substitution G A intron_variant MELA-AU 1 57137058 57137058 single base substitution C T intron_variant MELA-AU 1 57137097 57137097 single base substitution C T intron_variant MELA-AU 1 57137258 57137258 single base substitution T A intron_variant MELA-AU 1 57137740 57137740 single base substitution A C intron_variant MELA-AU 1 57138010 57138010 single base substitution G A intron_variant MELA-AU 1 57138018 57138018 single base substitution G A intron_variant MELA-AU 1 57138060 57138060 single base substitution G A intron_variant MELA-AU 1 57138165 57138165 single base substitution G A intron_variant MELA-AU 1 57138175 57138175 single base substitution C T intron_variant MELA-AU 1 57138237 57138237 single base substitution T A intron_variant MELA-AU 1 57138251 57138251 single base substitution G A intron_variant MELA-AU 1 57138298 57138298 single base substitution G A intron_variant MELA-AU 1 57138383 57138383 single base substitution G A intron_variant MELA-AU 1 57138397 57138397 single base substitution G A intron_variant MELA-AU 1 57138481 57138481 single base substitution G A intron_variant MELA-AU 1 57138656 57138656 single base substitution G A intron_variant MELA-AU 1 57138694 57138694 single base substitution G A intron_variant MELA-AU 1 57138770 57138770 single base substitution G A intron_variant MELA-AU 1 57138792 57138792 single base substitution C T intron_variant MELA-AU 1 57138811 57138811 single base substitution G A intron_variant MELA-AU 1 57138836 57138836 single base substitution G A intron_variant MELA-AU 1 57138859 57138859 single base substitution A G intron_variant MELA-AU 1 57139071 57139071 single base substitution G A intron_variant MELA-AU 1 57139136 57139136 single base substitution G A intron_variant MELA-AU 1 57139233 57139233 single base substitution G A intron_variant MELA-AU 1 57139240 57139240 single base substitution C T intron_variant MELA-AU 1 57139378 57139378 single base substitution C T intron_variant MELA-AU 1 57139391 57139391 single base substitution G A intron_variant MELA-AU 1 57139666 57139673 deletion of <=200bp ATAATACA - intron_variant MELA-AU 1 57139923 57139923 single base substitution T C intron_variant MELA-AU 1 57140109 57140109 single base substitution G A synonymous_variant Q50Q 150G>A MELA-AU 1 57140161 57140161 single base substitution C T synonymous_variant L68L 202C>T MELA-AU 1 57140254 57140254 single base substitution G A intron_variant MELA-AU 1 57140261 57140261 single base substitution A C intron_variant MELA-AU 1 57140581 57140581 single base substitution C T intron_variant MELA-AU 1 57140642 57140642 single base substitution C T intron_variant MELA-AU 1 57140718 57140718 single base substitution C T intron_variant MELA-AU 1 57140792 57140792 single base substitution T A intron_variant MELA-AU 1 57141308 57141308 single base substitution C T intron_variant MELA-AU 1 57141391 57141391 single base substitution G A intron_variant MELA-AU 1 57141444 57141444 single base substitution G A intron_variant MELA-AU 1 57141455 57141455 single base substitution G A intron_variant MELA-AU 1 57141599 57141599 single base substitution G A intron_variant MELA-AU 1 57141635 57141635 single base substitution G A intron_variant MELA-AU 1 57141739 57141739 single base substitution G A intron_variant MELA-AU 1 57141839 57141839 single base substitution C T intron_variant MELA-AU 1 57141982 57141982 single base substitution A C intron_variant MELA-AU 1 57142048 57142048 single base substitution G A intron_variant MELA-AU 1 57142057 57142057 single base substitution T A intron_variant MELA-AU 1 57142062 57142062 single base substitution T C intron_variant MELA-AU 1 57142109 57142109 single base substitution G A intron_variant MELA-AU 1 57142145 57142145 single base substitution G A intron_variant MELA-AU 1 57142943 57142943 single base substitution C T intron_variant MELA-AU 1 57143007 57143007 single base substitution C T intron_variant MELA-AU 1 57143029 57143029 single base substitution C T intron_variant MELA-AU 1 57143132 57143132 single base substitution G A intron_variant MELA-AU 1 57143201 57143201 single base substitution G A intron_variant MELA-AU 1 57143311 57143311 single base substitution G A intron_variant MELA-AU 1 57143312 57143312 single base substitution G A intron_variant MELA-AU 1 57143362 57143362 single base substitution C T intron_variant MELA-AU 1 57143548 57143548 single base substitution C T intron_variant MELA-AU 1 57143549 57143549 single base substitution G A intron_variant MELA-AU 1 57143834 57143834 single base substitution C T intron_variant MELA-AU 1 57143958 57143958 single base substitution C T intron_variant MELA-AU 1 57144114 57144114 single base substitution G A intron_variant MELA-AU 1 57144137 57144137 single base substitution C T intron_variant MELA-AU 1 57144154 57144154 single base substitution G A intron_variant MELA-AU 1 57144217 57144217 single base substitution G A intron_variant MELA-AU 1 57144572 57144572 single base substitution T C intron_variant MELA-AU 1 57144602 57144602 single base substitution C T intron_variant MELA-AU 1 57144637 57144637 single base substitution G A intron_variant MELA-AU 1 57144702 57144702 single base substitution C T intron_variant MELA-AU 1 57144716 57144716 single base substitution C T intron_variant MELA-AU 1 57144902 57144902 single base substitution C T intron_variant MELA-AU 1 57144941 57144941 single base substitution C T intron_variant MELA-AU 1 57144954 57144954 single base substitution G A intron_variant MELA-AU 1 57144974 57144974 single base substitution G A intron_variant MELA-AU 1 57145004 57145004 single base substitution C T intron_variant MELA-AU 1 57145030 57145030 single base substitution C T intron_variant MELA-AU 1 57145112 57145112 single base substitution G A intron_variant MELA-AU 1 57145207 57145207 single base substitution C T intron_variant MELA-AU 1 57145208 57145208 single base substitution C T intron_variant MELA-AU 1 57145255 57145255 single base substitution C T intron_variant MELA-AU 1 57145294 57145294 single base substitution G T intron_variant MELA-AU 1 57145332 57145332 single base substitution C T intron_variant MELA-AU 1 57145361 57145361 single base substitution C T intron_variant MELA-AU 1 57145368 57145368 single base substitution C T intron_variant MELA-AU 1 57145435 57145435 single base substitution G A intron_variant MELA-AU 1 57145551 57145551 single base substitution G A intron_variant MELA-AU 1 57145558 57145558 single base substitution G A intron_variant MELA-AU 1 57145606 57145606 single base substitution C T intron_variant MELA-AU 1 57145617 57145617 single base substitution G A intron_variant MELA-AU 1 57145728 57145728 single base substitution T C intron_variant MELA-AU 1 57145929 57145929 single base substitution C T intron_variant MELA-AU 1 57145934 57145934 single base substitution G A intron_variant MELA-AU 1 57146006 57146006 single base substitution G A intron_variant MELA-AU 1 57146160 57146160 single base substitution T A intron_variant MELA-AU 1 57146178 57146178 single base substitution C T intron_variant MELA-AU 1 57146445 57146445 single base substitution G A intron_variant MELA-AU 1 57146520 57146520 single base substitution G A intron_variant MELA-AU 1 57146699 57146699 single base substitution C T intron_variant MELA-AU 1 57146771 57146771 single base substitution C T intron_variant MELA-AU 1 57146881 57146881 single base substitution G A intron_variant MELA-AU 1 57146961 57146961 single base substitution T A intron_variant MELA-AU 1 57147185 57147185 single base substitution C T intron_variant MELA-AU 1 57147262 57147262 single base substitution C T intron_variant MELA-AU 1 57147432 57147432 single base substitution C T intron_variant MELA-AU 1 57147453 57147453 single base substitution C T intron_variant MELA-AU 1 57147526 57147527 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 57147608 57147608 single base substitution T G intron_variant MELA-AU 1 57147616 57147616 single base substitution G A intron_variant MELA-AU 1 57147633 57147633 single base substitution C T intron_variant MELA-AU 1 57147642 57147642 single base substitution G A intron_variant MELA-AU 1 57147649 57147649 single base substitution C T intron_variant MELA-AU 1 57147801 57147801 single base substitution G A intron_variant MELA-AU 1 57147813 57147813 single base substitution G A intron_variant MELA-AU 1 57147843 57147843 single base substitution G A intron_variant MELA-AU 1 57147850 57147850 single base substitution G A intron_variant MELA-AU 1 57147996 57147996 single base substitution G A intron_variant MELA-AU 1 57148039 57148039 single base substitution G A intron_variant MELA-AU 1 57148170 57148170 single base substitution G A intron_variant MELA-AU 1 57148201 57148201 single base substitution G A intron_variant MELA-AU 1 57148220 57148220 single base substitution G A intron_variant MELA-AU 1 57148282 57148282 single base substitution G A intron_variant MELA-AU 1 57148299 57148299 single base substitution G A intron_variant MELA-AU 1 57148333 57148333 single base substitution G A intron_variant MELA-AU 1 57148515 57148515 single base substitution G A intron_variant MELA-AU 1 57148597 57148597 single base substitution G A intron_variant MELA-AU 1 57148728 57148728 single base substitution G A intron_variant MELA-AU 1 57148731 57148731 single base substitution G A intron_variant MELA-AU 1 57148742 57148742 single base substitution G A intron_variant MELA-AU 1 57148862 57148862 single base substitution G A intron_variant MELA-AU 1 57149048 57149048 single base substitution G A intron_variant MELA-AU 1 57149053 57149053 single base substitution C T intron_variant MELA-AU 1 57149068 57149068 single base substitution G A intron_variant MELA-AU 1 57149129 57149129 single base substitution G A intron_variant MELA-AU 1 57149141 57149141 single base substitution G A intron_variant MELA-AU 1 57149155 57149155 single base substitution A G intron_variant MELA-AU 1 57149220 57149220 single base substitution G A intron_variant MELA-AU 1 57149308 57149308 single base substitution A C intron_variant MELA-AU 1 57149322 57149323 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 57149363 57149363 single base substitution G A intron_variant MELA-AU 1 57149428 57149428 single base substitution G A intron_variant MELA-AU 1 57149441 57149441 single base substitution C T intron_variant MELA-AU 1 57149471 57149471 single base substitution G A intron_variant MELA-AU 1 57149597 57149597 single base substitution G A intron_variant MELA-AU 1 57149648 57149648 single base substitution G A intron_variant MELA-AU 1 57149748 57149748 single base substitution T C intron_variant MELA-AU 1 57149806 57149806 single base substitution A G intron_variant MELA-AU 1 57149845 57149845 single base substitution G A intron_variant MELA-AU 1 57149902 57149902 single base substitution G A intron_variant MELA-AU 1 57149943 57149943 single base substitution A T intron_variant MELA-AU 1 57149981 57149981 single base substitution C A intron_variant MELA-AU 1 57150111 57150111 single base substitution G A intron_variant MELA-AU 1 57150114 57150114 single base substitution G A intron_variant MELA-AU 1 57150185 57150185 single base substitution A G intron_variant MELA-AU 1 57150193 57150193 single base substitution G A intron_variant MELA-AU 1 57150217 57150217 single base substitution G T intron_variant MELA-AU 1 57150245 57150245 single base substitution G A intron_variant MELA-AU 1 57150274 57150274 single base substitution A T intron_variant MELA-AU 1 57150331 57150331 single base substitution G A intron_variant MELA-AU 1 57150480 57150480 single base substitution G A intron_variant MELA-AU 1 57150525 57150525 single base substitution G A intron_variant MELA-AU 1 57150587 57150587 single base substitution G A intron_variant MELA-AU 1 57150595 57150595 single base substitution C T intron_variant MELA-AU 1 57150609 57150609 single base substitution G A intron_variant MELA-AU 1 57150627 57150627 single base substitution G A intron_variant MELA-AU 1 57150709 57150709 single base substitution G A intron_variant MELA-AU 1 57150742 57150742 single base substitution T G intron_variant MELA-AU 1 57150920 57150920 single base substitution T A intron_variant MELA-AU 1 57151176 57151176 single base substitution C T intron_variant MELA-AU 1 57151299 57151299 single base substitution G A intron_variant MELA-AU 1 57151355 57151355 single base substitution G T intron_variant MELA-AU 1 57151387 57151388 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 57151405 57151405 single base substitution C T intron_variant MELA-AU 1 57151435 57151435 single base substitution C T intron_variant MELA-AU 1 57151445 57151445 single base substitution C T intron_variant MELA-AU 1 57151446 57151446 single base substitution C T intron_variant MELA-AU 1 57151512 57151512 single base substitution G A intron_variant MELA-AU 1 57151540 57151540 single base substitution G A intron_variant MELA-AU 1 57151565 57151565 single base substitution C T intron_variant MELA-AU 1 57151593 57151593 single base substitution T A intron_variant MELA-AU 1 57151611 57151611 single base substitution G A intron_variant MELA-AU 1 57151717 57151717 single base substitution G A intron_variant MELA-AU 1 57151773 57151773 single base substitution C T intron_variant MELA-AU 1 57152119 57152119 single base substitution G A intron_variant MELA-AU 1 57152189 57152189 single base substitution G A intron_variant MELA-AU 1 57152300 57152300 single base substitution G A intron_variant MELA-AU 1 57152418 57152418 single base substitution C T intron_variant MELA-AU 1 57152422 57152422 single base substitution C T intron_variant MELA-AU 1 57152446 57152446 single base substitution A C intron_variant MELA-AU 1 57152481 57152481 single base substitution G A intron_variant MELA-AU 1 57152606 57152606 single base substitution G A intron_variant MELA-AU 1 57152680 57152680 single base substitution C T intron_variant MELA-AU 1 57152732 57152732 single base substitution T C intron_variant MELA-AU 1 57152762 57152762 single base substitution G A intron_variant MELA-AU 1 57152771 57152771 single base substitution G A intron_variant MELA-AU 1 57152863 57152863 single base substitution C T intron_variant MELA-AU 1 57153155 57153155 single base substitution G A intron_variant MELA-AU 1 57153222 57153222 single base substitution A C intron_variant MELA-AU 1 57153534 57153534 single base substitution G C intron_variant MELA-AU 1 57153570 57153570 single base substitution G A intron_variant MELA-AU 1 57153582 57153582 single base substitution G A intron_variant MELA-AU 1 57153676 57153676 single base substitution G A intron_variant MELA-AU 1 57153786 57153786 single base substitution G A intron_variant MELA-AU 1 57153812 57153812 single base substitution C T intron_variant MELA-AU 1 57153906 57153906 single base substitution G A intron_variant MELA-AU 1 57153915 57153915 single base substitution G A intron_variant MELA-AU 1 57154142 57154142 single base substitution G A intron_variant MELA-AU 1 57154152 57154152 single base substitution C T intron_variant MELA-AU 1 57154179 57154179 single base substitution G A intron_variant MELA-AU 1 57154410 57154410 single base substitution G A intron_variant MELA-AU 1 57154451 57154451 single base substitution C T intron_variant MELA-AU 1 57154618 57154618 single base substitution T C intron_variant MELA-AU 1 57154704 57154704 single base substitution T A intron_variant MELA-AU 1 57154912 57154912 single base substitution G A intron_variant MELA-AU 1 57154951 57154951 single base substitution C T intron_variant MELA-AU 1 57154953 57154953 single base substitution A T intron_variant MELA-AU 1 57154957 57154957 single base substitution C T intron_variant MELA-AU 1 57155030 57155030 single base substitution C G intron_variant MELA-AU 1 57155071 57155071 single base substitution C T intron_variant MELA-AU 1 57155156 57155156 single base substitution C T intron_variant MELA-AU 1 57155188 57155188 single base substitution C T intron_variant MELA-AU 1 57155515 57155515 single base substitution T A intron_variant MELA-AU 1 57155829 57155829 single base substitution C T intron_variant MELA-AU 1 57155847 57155847 single base substitution T C intron_variant MELA-AU 1 57156099 57156099 single base substitution C T intron_variant MELA-AU 1 57156322 57156322 single base substitution T A intron_variant MELA-AU 1 57156374 57156374 single base substitution C T intron_variant MELA-AU 1 57156422 57156422 single base substitution G A intron_variant MELA-AU 1 57156521 57156521 single base substitution G A intron_variant MELA-AU 1 57156542 57156542 single base substitution C T intron_variant MELA-AU 1 57156556 57156556 single base substitution C T intron_variant MELA-AU 1 57156568 57156568 single base substitution C T intron_variant MELA-AU 1 57156631 57156631 single base substitution C T intron_variant MELA-AU 1 57156796 57156796 single base substitution G A intron_variant MELA-AU 1 57156933 57156933 single base substitution G A intron_variant MELA-AU 1 57157520 57157520 single base substitution G A intron_variant MELA-AU 1 57157839 57157839 single base substitution G A intron_variant MELA-AU 1 57157975 57157975 single base substitution G A intron_variant MELA-AU 1 57158113 57158113 single base substitution G A missense_variant R138Q 413G>A MELA-AU 1 57158141 57158141 single base substitution G A synonymous_variant L147L 441G>A MELA-AU 1 57158153 57158153 single base substitution G A missense_variant M151I 453G>A MELA-AU 1 57158174 57158174 single base substitution C T splice_region_variant MELA-AU 1 57158187 57158187 single base substitution C T intron_variant MELA-AU 1 57158192 57158192 single base substitution T C intron_variant MELA-AU 1 57158217 57158217 single base substitution T C intron_variant MELA-AU 1 57158286 57158286 single base substitution G A intron_variant MELA-AU 1 57158339 57158339 single base substitution C T intron_variant MELA-AU 1 57158415 57158415 single base substitution C T intron_variant MELA-AU 1 57158422 57158422 single base substitution T G intron_variant MELA-AU 1 57158440 57158440 single base substitution G A intron_variant MELA-AU 1 57158492 57158492 single base substitution G A intron_variant MELA-AU 1 57158607 57158607 single base substitution G A intron_variant MELA-AU 1 57158622 57158622 single base substitution C T intron_variant MELA-AU 1 57158663 57158663 single base substitution T A intron_variant MELA-AU 1 57158739 57158739 single base substitution A T intron_variant MELA-AU 1 57158779 57158779 single base substitution G A intron_variant MELA-AU 1 57158958 57158958 single base substitution C T intron_variant MELA-AU 1 57159051 57159051 single base substitution G A intron_variant MELA-AU 1 57159069 57159069 single base substitution G A intron_variant MELA-AU 1 57159069 57159069 single base substitution G T intron_variant MELA-AU 1 57159070 57159070 single base substitution G A intron_variant MELA-AU 1 57159111 57159111 single base substitution G A intron_variant MELA-AU 1 57159140 57159140 single base substitution C T intron_variant MELA-AU 1 57159176 57159176 single base substitution C T intron_variant MELA-AU 1 57159347 57159347 single base substitution G A intron_variant MELA-AU 1 57159359 57159359 single base substitution G A intron_variant MELA-AU 1 57159451 57159451 single base substitution G A missense_variant M163I 489G>A MELA-AU 1 57159499 57159499 single base substitution T A stop_gained Y179* 537T>A MELA-AU 1 57159541 57159541 single base substitution G A intron_variant MELA-AU 1 57159603 57159603 single base substitution G A intron_variant MELA-AU 1 57159726 57159726 single base substitution G A intron_variant MELA-AU 1 57159742 57159742 single base substitution G A intron_variant MELA-AU 1 57159927 57159927 single base substitution G A intron_variant MELA-AU 1 57159937 57159937 single base substitution G A intron_variant MELA-AU 1 57159952 57159952 single base substitution C T intron_variant MELA-AU 1 57160147 57160147 single base substitution C T intron_variant MELA-AU 1 57160238 57160238 single base substitution G A intron_variant MELA-AU 1 57160326 57160326 single base substitution G A intron_variant MELA-AU 1 57160333 57160333 single base substitution G A intron_variant MELA-AU 1 57160338 57160338 single base substitution C T intron_variant MELA-AU 1 57160394 57160394 single base substitution G A intron_variant MELA-AU 1 57160492 57160492 single base substitution C A intron_variant MELA-AU 1 57160569 57160569 single base substitution C T intron_variant MELA-AU 1 57160584 57160584 single base substitution G A intron_variant MELA-AU 1 57160971 57160971 single base substitution C T intron_variant MELA-AU 1 57161063 57161063 single base substitution C T intron_variant MELA-AU 1 57161179 57161179 single base substitution G A intron_variant MELA-AU 1 57161247 57161247 single base substitution C T intron_variant MELA-AU 1 57161310 57161310 single base substitution G T intron_variant MELA-AU 1 57161355 57161355 single base substitution C T intron_variant MELA-AU 1 57161759 57161759 single base substitution C T missense_variant R239C 715C>T MELA-AU 1 57161832 57161832 single base substitution G A missense_variant R263K 788G>A MELA-AU 1 57161877 57161877 single base substitution A T intron_variant MELA-AU 1 57161917 57161917 single base substitution C T intron_variant MELA-AU 1 57162085 57162085 single base substitution C T intron_variant MELA-AU 1 57162130 57162130 single base substitution C T intron_variant MELA-AU 1 57162288 57162288 single base substitution G A intron_variant MELA-AU 1 57162379 57162379 single base substitution G A intron_variant MELA-AU 1 57162606 57162606 single base substitution C T intron_variant MELA-AU 1 57162658 57162658 single base substitution C T intron_variant MELA-AU 1 57162660 57162660 single base substitution C T intron_variant MELA-AU 1 57162661 57162661 single base substitution C A intron_variant MELA-AU 1 57162721 57162721 single base substitution C T intron_variant MELA-AU 1 57162793 57162793 single base substitution C T intron_variant MELA-AU 1 57162807 57162807 single base substitution C A intron_variant MELA-AU 1 57162951 57162951 single base substitution C T intron_variant MELA-AU 1 57163030 57163030 single base substitution G A intron_variant MELA-AU 1 57163198 57163198 single base substitution G A intron_variant MELA-AU 1 57163308 57163308 single base substitution A T intron_variant MELA-AU 1 57163478 57163478 single base substitution T C intron_variant MELA-AU 1 57163489 57163489 single base substitution T A intron_variant MELA-AU 1 57163494 57163494 single base substitution A T intron_variant MELA-AU 1 57163560 57163560 single base substitution G A intron_variant MELA-AU 1 57163633 57163633 single base substitution C T intron_variant MELA-AU 1 57163647 57163647 single base substitution G A intron_variant MELA-AU 1 57163689 57163689 insertion of <=200bp - AT intron_variant MELA-AU 1 57163731 57163731 single base substitution G A intron_variant MELA-AU 1 57163768 57163768 single base substitution T G intron_variant MELA-AU 1 57163834 57163834 single base substitution C T intron_variant MELA-AU 1 57163953 57163953 single base substitution G A intron_variant MELA-AU 1 57163997 57163997 single base substitution A G intron_variant MELA-AU 1 57164202 57164202 single base substitution G A intron_variant MELA-AU 1 57164267 57164267 single base substitution C T intron_variant MELA-AU 1 57164468 57164468 single base substitution C T intron_variant MELA-AU 1 57164643 57164643 single base substitution G A intron_variant MELA-AU 1 57165002 57165002 single base substitution C T intron_variant MELA-AU 1 57165013 57165013 single base substitution G A intron_variant MELA-AU 1 57165187 57165187 single base substitution T C intron_variant MELA-AU 1 57165323 57165323 single base substitution C T intron_variant MELA-AU 1 57165435 57165435 single base substitution C T intron_variant MELA-AU 1 57165628 57165628 single base substitution C T intron_variant MELA-AU 1 57165724 57165724 single base substitution A C intron_variant MELA-AU 1 57165766 57165766 single base substitution C T intron_variant MELA-AU 1 57165856 57165856 single base substitution C T intron_variant MELA-AU 1 57165892 57165892 single base substitution C T intron_variant MELA-AU 1 57165935 57165935 single base substitution C T intron_variant MELA-AU 1 57165997 57165997 single base substitution G A intron_variant MELA-AU 1 57166005 57166005 single base substitution C T intron_variant MELA-AU 1 57166020 57166020 single base substitution G A intron_variant MELA-AU 1 57166144 57166144 single base substitution C T intron_variant MELA-AU 1 57166160 57166160 single base substitution C T intron_variant MELA-AU 1 57166176 57166176 single base substitution G A intron_variant MELA-AU 1 57166218 57166218 single base substitution C T intron_variant MELA-AU 1 57166313 57166313 single base substitution T A intron_variant MELA-AU 1 57166374 57166374 single base substitution C T intron_variant MELA-AU 1 57166485 57166485 single base substitution C G intron_variant MELA-AU 1 57166591 57166592 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU 1 57166607 57166607 single base substitution G A intron_variant MELA-AU 1 57166643 57166643 single base substitution G A intron_variant MELA-AU 1 57166698 57166698 single base substitution T G intron_variant MELA-AU 1 57166759 57166759 single base substitution G A intron_variant MELA-AU 1 57166763 57166763 single base substitution A G intron_variant MELA-AU 1 57166774 57166774 single base substitution C T intron_variant MELA-AU 1 57166830 57166830 single base substitution T A intron_variant MELA-AU 1 57166841 57166841 single base substitution T C intron_variant MELA-AU 1 57166978 57166978 single base substitution G A intron_variant MELA-AU 1 57167075 57167075 single base substitution A T intron_variant MELA-AU 1 57167097 57167097 single base substitution C T intron_variant MELA-AU 1 57167167 57167167 single base substitution G A intron_variant MELA-AU 1 57167202 57167202 single base substitution C T intron_variant MELA-AU 1 57167260 57167260 single base substitution A G intron_variant MELA-AU 1 57167449 57167449 single base substitution C T intron_variant MELA-AU 1 57167554 57167554 single base substitution G A intron_variant MELA-AU 1 57167586 57167586 single base substitution C T intron_variant MELA-AU 1 57167616 57167616 single base substitution C T intron_variant MELA-AU 1 57167847 57167847 single base substitution C T intron_variant MELA-AU 1 57167849 57167849 single base substitution C A intron_variant MELA-AU 1 57168026 57168026 single base substitution G A intron_variant MELA-AU 1 57168038 57168038 single base substitution G A intron_variant MELA-AU 1 57168151 57168151 single base substitution T G intron_variant MELA-AU 1 57168183 57168183 single base substitution C T intron_variant MELA-AU 1 57168186 57168186 single base substitution G A intron_variant MELA-AU 1 57168193 57168193 single base substitution C T intron_variant MELA-AU 1 57168203 57168203 single base substitution G A intron_variant MELA-AU 1 57168294 57168294 single base substitution G A intron_variant MELA-AU 1 57168398 57168398 single base substitution C T intron_variant MELA-AU 1 57168738 57168738 single base substitution C T intron_variant MELA-AU 1 57168761 57168761 single base substitution G A intron_variant MELA-AU 1 57168782 57168782 single base substitution G A intron_variant MELA-AU 1 57168834 57168834 single base substitution C T intron_variant MELA-AU 1 57168909 57168909 single base substitution G A intron_variant MELA-AU 1 57168975 57168975 single base substitution A G intron_variant MELA-AU 1 57169164 57169164 single base substitution C T intron_variant MELA-AU 1 57169172 57169172 single base substitution C T intron_variant MELA-AU 1 57169234 57169234 single base substitution G A intron_variant MELA-AU 1 57169291 57169291 single base substitution C T intron_variant MELA-AU 1 57169357 57169357 single base substitution C T intron_variant MELA-AU 1 57169369 57169369 single base substitution C T intron_variant MELA-AU 1 57169398 57169398 single base substitution C T intron_variant MELA-AU 1 57169424 57169424 single base substitution C T intron_variant MELA-AU 1 57169639 57169639 single base substitution C T splice_region_variant MELA-AU 1 57169687 57169687 single base substitution C T missense_variant P278S 832C>T MELA-AU 1 57169881 57169881 single base substitution C T synonymous_variant L342L 1026C>T MELA-AU 1 57169904 57169904 single base substitution C T missense_variant S350F 1049C>T MELA-AU 1 57170004 57170004 single base substitution A G synonymous_variant P383P 1149A>G MELA-AU 1 57170036 57170036 single base substitution C T missense_variant S394F 1181C>T MELA-AU 1 57170074 57170074 single base substitution C T stop_gained R407* 1219C>T MELA-AU 1 57170117 57170117 single base substitution G A missense_variant R421Q 1262G>A MELA-AU 1 57170124 57170124 single base substitution G A missense_variant M423I 1269G>A MELA-AU 1 57170296 57170296 single base substitution G A intron_variant MELA-AU 1 57170336 57170336 single base substitution T A intron_variant MELA-AU 1 57170426 57170426 single base substitution G A intron_variant MELA-AU 1 57170433 57170433 single base substitution C T intron_variant MELA-AU 1 57170474 57170474 single base substitution T A intron_variant MELA-AU 1 57170497 57170497 single base substitution C T intron_variant MELA-AU 1 57170710 57170710 single base substitution C T intron_variant MELA-AU 1 57171141 57171141 single base substitution G A intron_variant MELA-AU 1 57171167 57171167 single base substitution C T intron_variant MELA-AU 1 57171342 57171342 single base substitution G A intron_variant MELA-AU 1 57171519 57171519 single base substitution C T intron_variant MELA-AU 1 57171539 57171539 single base substitution C T intron_variant MELA-AU 1 57171648 57171648 single base substitution A T intron_variant MELA-AU 1 57171652 57171652 single base substitution A G intron_variant MELA-AU 1 57171665 57171665 single base substitution C T intron_variant MELA-AU 1 57171702 57171702 single base substitution C T intron_variant MELA-AU 1 57171770 57171770 single base substitution G A synonymous_variant V433V 1299G>A MELA-AU 1 57171786 57171786 single base substitution C T missense_variant R439C 1315C>T MELA-AU 1 57171804 57171804 single base substitution C T missense_variant P445S 1333C>T MELA-AU 1 57171824 57171824 single base substitution G A synonymous_variant V451V 1353G>A MELA-AU 1 57171852 57171852 single base substitution G A missense_variant D461N 1381G>A MELA-AU 1 57171989 57171989 single base substitution C T intron_variant MELA-AU 1 57172004 57172004 single base substitution A G intron_variant MELA-AU 1 57172046 57172046 single base substitution T G intron_variant MELA-AU 1 57172083 57172084 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 57172084 57172084 single base substitution C T intron_variant MELA-AU 1 57172099 57172099 single base substitution C T intron_variant MELA-AU 1 57172115 57172115 single base substitution C T intron_variant MELA-AU 1 57172176 57172176 single base substitution C T intron_variant MELA-AU 1 57172279 57172279 single base substitution C T intron_variant MELA-AU 1 57172314 57172314 single base substitution G A intron_variant MELA-AU 1 57172368 57172368 single base substitution G A intron_variant MELA-AU 1 57172443 57172443 single base substitution C T intron_variant MELA-AU 1 57172458 57172458 single base substitution G A intron_variant MELA-AU 1 57172527 57172527 single base substitution G A intron_variant MELA-AU 1 57172571 57172571 single base substitution C T intron_variant MELA-AU 1 57172620 57172620 single base substitution G A intron_variant MELA-AU 1 57172653 57172653 single base substitution C T intron_variant MELA-AU 1 57172711 57172711 single base substitution C T intron_variant MELA-AU 1 57172755 57172755 single base substitution C T intron_variant MELA-AU 1 57172948 57172948 deletion of <=200bp G - intron_variant MELA-AU 1 57172992 57172992 single base substitution G A intron_variant MELA-AU 1 57173028 57173028 single base substitution C T intron_variant MELA-AU 1 57173116 57173116 single base substitution C T intron_variant MELA-AU 1 57173217 57173217 single base substitution G A missense_variant R497K 1490G>A MELA-AU 1 57173304 57173304 single base substitution C G missense_variant S526C 1577C>G MELA-AU 1 57173494 57173494 single base substitution G A 3_prime_UTR_variant MELA-AU 1 57173503 57173503 single base substitution C T 3_prime_UTR_variant MELA-AU 1 57173601 57173601 single base substitution C T 3_prime_UTR_variant MELA-AU 1 57173649 57173649 single base substitution T G 3_prime_UTR_variant MELA-AU 1 57173693 57173693 single base substitution G A 3_prime_UTR_variant MELA-AU 1 57173778 57173778 single base substitution C T 3_prime_UTR_variant MELA-AU 1 57173812 57173812 single base substitution T C 3_prime_UTR_variant MELA-AU 1 57173871 57173871 single base substitution T C 3_prime_UTR_variant MELA-AU 1 57174194 57174194 single base substitution C A 3_prime_UTR_variant MELA-AU 1 57174544 57174544 single base substitution A T 3_prime_UTR_variant MELA-AU 1 57174828 57174828 single base substitution G A 3_prime_UTR_variant MELA-AU 1 57175145 57175145 single base substitution G A 3_prime_UTR_variant MELA-AU 1 57175150 57175150 single base substitution C T 3_prime_UTR_variant MELA-AU 1 57175218 57175218 single base substitution C T 3_prime_UTR_variant MELA-AU 1 57175279 57175279 single base substitution G A 3_prime_UTR_variant MELA-AU 1 57175486 57175487 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 1 57175487 57175487 single base substitution G A 3_prime_UTR_variant MELA-AU 1 57176028 57176028 single base substitution C T 3_prime_UTR_variant MELA-AU 1 57176108 57176108 single base substitution G A 3_prime_UTR_variant MELA-AU 1 57176117 57176117 single base substitution C T 3_prime_UTR_variant MELA-AU 1 57176156 57176156 single base substitution G A 3_prime_UTR_variant MELA-AU 1 57176171 57176171 single base substitution G A 3_prime_UTR_variant MELA-AU 1 57176187 57176187 single base substitution G A 3_prime_UTR_variant MELA-AU 1 57176746 57176747 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 1 57176912 57176912 single base substitution C T 3_prime_UTR_variant MELA-AU 1 57176983 57176983 single base substitution C T 3_prime_UTR_variant MELA-AU 1 57177155 57177155 single base substitution C T 3_prime_UTR_variant MELA-AU 1 57177365 57177365 single base substitution G A 3_prime_UTR_variant MELA-AU 1 57177724 57177724 single base substitution T C 3_prime_UTR_variant MELA-AU 1 57177869 57177869 single base substitution C T 3_prime_UTR_variant MELA-AU 1 57177934 57177934 single base substitution G A 3_prime_UTR_variant MELA-AU 1 57177984 57177984 single base substitution A T 3_prime_UTR_variant MELA-AU 1 57178228 57178228 single base substitution G A 3_prime_UTR_variant MELA-AU 1 57178433 57178433 single base substitution G A 3_prime_UTR_variant MELA-AU 1 57178462 57178462 single base substitution T C 3_prime_UTR_variant MELA-AU 1 57178539 57178539 single base substitution A G 3_prime_UTR_variant MELA-AU 1 57178541 57178541 single base substitution G A 3_prime_UTR_variant MELA-AU 1 57178631 57178631 single base substitution T G 3_prime_UTR_variant MELA-AU 1 57179152 57179152 single base substitution C T 3_prime_UTR_variant MELA-AU 1 57179199 57179199 single base substitution G A 3_prime_UTR_variant MELA-AU 1 57179210 57179210 single base substitution G A 3_prime_UTR_variant MELA-AU 1 57179224 57179224 single base substitution G A 3_prime_UTR_variant MELA-AU 1 57179255 57179255 single base substitution T A 3_prime_UTR_variant MELA-AU 1 57179625 57179625 single base substitution C T 3_prime_UTR_variant MELA-AU 1 57180074 57180074 single base substitution C T 3_prime_UTR_variant MELA-AU 1 57180215 57180215 single base substitution C T 3_prime_UTR_variant MELA-AU 1 57180309 57180309 single base substitution G A 3_prime_UTR_variant MELA-AU 1 57180409 57180409 single base substitution G A 3_prime_UTR_variant MELA-AU 1 57180427 57180427 single base substitution T A 3_prime_UTR_variant MELA-AU 1 57180681 57180681 single base substitution T G 3_prime_UTR_variant MELA-AU 1 57180807 57180807 single base substitution G A 3_prime_UTR_variant MELA-AU 1 57180832 57180832 single base substitution G A 3_prime_UTR_variant MELA-AU 1 57181329 57181329 single base substitution G A downstream_gene_variant MELA-AU 1 57181381 57181381 single base substitution C T downstream_gene_variant MELA-AU 1 57181385 57181385 single base substitution C T downstream_gene_variant MELA-AU 1 57181398 57181398 single base substitution G A downstream_gene_variant MELA-AU 1 57181399 57181399 single base substitution G A downstream_gene_variant MELA-AU 1 57181522 57181522 single base substitution G A downstream_gene_variant MELA-AU 1 57181670 57181670 single base substitution G A downstream_gene_variant MELA-AU 1 57181723 57181723 single base substitution A G downstream_gene_variant MELA-AU 1 57181814 57181814 single base substitution C T downstream_gene_variant MELA-AU 1 57181824 57181824 single base substitution G A downstream_gene_variant MELA-AU 1 57181842 57181842 single base substitution G A downstream_gene_variant MELA-AU 1 57181920 57181920 single base substitution T G downstream_gene_variant MELA-AU 1 57181923 57181923 single base substitution C T downstream_gene_variant MELA-AU 1 57181967 57181967 single base substitution G A downstream_gene_variant MELA-AU 1 57182357 57182357 single base substitution G A downstream_gene_variant MELA-AU 1 57182477 57182477 single base substitution C T downstream_gene_variant MELA-AU 1 57182543 57182543 single base substitution T C downstream_gene_variant MELA-AU 1 57182737 57182737 single base substitution G A downstream_gene_variant MELA-AU 1 57182851 57182851 single base substitution T A downstream_gene_variant MELA-AU 1 57182927 57182927 single base substitution C T downstream_gene_variant MELA-AU 1 57182946 57182946 single base substitution C T downstream_gene_variant MELA-AU 1 57182970 57182970 single base substitution G A downstream_gene_variant MELA-AU 1 57183027 57183027 single base substitution G A downstream_gene_variant MELA-AU 1 57183029 57183029 single base substitution T C downstream_gene_variant MELA-AU 1 57183056 57183056 single base substitution G A downstream_gene_variant MELA-AU 1 57183270 57183270 single base substitution G A downstream_gene_variant MELA-AU 1 57183340 57183340 single base substitution G A downstream_gene_variant MELA-AU 1 57183672 57183672 single base substitution C T downstream_gene_variant MELA-AU 1 57183796 57183796 single base substitution C T downstream_gene_variant MELA-AU 1 57183845 57183845 single base substitution G A downstream_gene_variant MELA-AU 1 57183866 57183866 single base substitution C T downstream_gene_variant MELA-AU 1 57183894 57183894 single base substitution A T downstream_gene_variant MELA-AU 1 57184237 57184237 single base substitution G A downstream_gene_variant MELA-AU 1 57184299 57184299 single base substitution G A downstream_gene_variant MELA-AU 1 57184326 57184326 single base substitution A T downstream_gene_variant MELA-AU 1 57184334 57184334 single base substitution G A downstream_gene_variant MELA-AU 1 57184372 57184372 single base substitution C T downstream_gene_variant MELA-AU 1 57184568 57184568 single base substitution C T downstream_gene_variant MELA-AU 1 57184569 57184569 single base substitution C T downstream_gene_variant MELA-AU 1 57184774 57184774 single base substitution G A downstream_gene_variant MELA-AU 1 57184882 57184882 single base substitution G A downstream_gene_variant MELA-AU 1 57184883 57184883 single base substitution A G downstream_gene_variant MELA-AU 1 57184894 57184894 single base substitution G A downstream_gene_variant MELA-AU 1 57185034 57185034 single base substitution G A downstream_gene_variant MELA-AU 1 57185148 57185148 single base substitution A G downstream_gene_variant MELA-AU 1 57185203 57185203 single base substitution C T downstream_gene_variant MELA-AU 1 57185219 57185219 single base substitution G A downstream_gene_variant MELA-AU 1 57185429 57185429 single base substitution G A downstream_gene_variant MELA-AU 1 57185439 57185439 single base substitution G A downstream_gene_variant MELA-AU 1 57185658 57185658 single base substitution G A downstream_gene_variant MELA-AU 1 57185748 57185748 single base substitution C T downstream_gene_variant MELA-AU 1 57185770 57185770 single base substitution G A downstream_gene_variant MELA-AU 1 57185792 57185792 single base substitution T C downstream_gene_variant MELA-AU 1 57185823 57185823 single base substitution G A downstream_gene_variant MELA-AU 1 57185864 57185864 single base substitution G A downstream_gene_variant MELA-AU 1 57186005 57186005 single base substitution G A downstream_gene_variant ORCA-IN 1 57120048 57120048 single base substitution C G intron_variant ORCA-IN 1 57128435 57128435 deletion of <=200bp G - intron_variant ORCA-IN 1 57144945 57144945 single base substitution C G intron_variant ORCA-IN 1 57152846 57152846 single base substitution C T intron_variant ORCA-IN 1 57165994 57165994 insertion of <=200bp - G intron_variant ORCA-IN 1 57169752 57169752 single base substitution A G synonymous_variant K299K 897A>G ORCA-IN 1 57185864 57185864 single base substitution G A downstream_gene_variant OV-AU 1 57111408 57111408 single base substitution C T intron_variant OV-AU 1 57113710 57113710 single base substitution A G intron_variant OV-AU 1 57129311 57129311 single base substitution C T intron_variant OV-AU 1 57131091 57131091 single base substitution C A intron_variant OV-AU 1 57140102 57140112 deletion of <=200bp ATAGACAGAAG - frameshift_variant NRQK48 OV-AU 1 57141944 57141944 single base substitution C G intron_variant OV-AU 1 57147162 57147162 single base substitution G C intron_variant OV-AU 1 57152113 57152113 single base substitution A G intron_variant OV-AU 1 57157120 57157120 single base substitution C T missense_variant S97F 290C>T OV-AU 1 57157177 57157177 single base substitution C G intron_variant OV-AU 1 57157396 57157396 single base substitution C T intron_variant OV-AU 1 57157458 57157458 single base substitution C T intron_variant OV-AU 1 57157480 57157480 single base substitution C T intron_variant OV-AU 1 57157856 57157856 single base substitution C T intron_variant OV-AU 1 57158197 57158197 single base substitution C T intron_variant OV-AU 1 57158637 57158637 single base substitution C T intron_variant OV-AU 1 57161070 57161070 single base substitution C T intron_variant OV-AU 1 57163212 57163212 single base substitution A C intron_variant OV-AU 1 57170104 57170104 single base substitution G T missense_variant A417S 1249G>T OV-AU 1 57171875 57171875 deletion of <=200bp C - frameshift_variant D468 OV-AU 1 57173177 57173177 single base substitution T C missense_variant S484P 1450T>C OV-AU 1 57173469 57173469 single base substitution C A 3_prime_UTR_variant OV-AU 1 57175087 57175087 single base substitution T C 3_prime_UTR_variant OV-AU 1 57178772 57178772 single base substitution T G 3_prime_UTR_variant OV-AU 1 57182372 57182372 single base substitution G C downstream_gene_variant OV-AU 1 57185640 57185640 single base substitution T A downstream_gene_variant OV-AU 1 57185825 57185825 single base substitution A G downstream_gene_variant PACA-AU 1 57107842 57107842 single base substitution C T upstream_gene_variant PACA-AU 1 57110252 57110252 insertion of <=200bp - T upstream_gene_variant PACA-AU 1 57110320 57110320 single base substitution T C upstream_gene_variant PACA-AU 1 57110726 57110726 single base substitution C A upstream_gene_variant PACA-AU 1 57111047 57111047 insertion of <=200bp - CGCG 5_prime_UTR_variant PACA-AU 1 57114140 57114140 single base substitution T C intron_variant PACA-AU 1 57115892 57115892 insertion of <=200bp - T intron_variant PACA-AU 1 57121432 57121432 single base substitution C T intron_variant PACA-AU 1 57122881 57122881 deletion of <=200bp G - intron_variant PACA-AU 1 57123122 57123122 single base substitution G A intron_variant PACA-AU 1 57123678 57123678 single base substitution A G intron_variant PACA-AU 1 57124271 57124271 single base substitution G A intron_variant PACA-AU 1 57124513 57124513 single base substitution A C intron_variant PACA-AU 1 57126610 57126610 single base substitution G A intron_variant PACA-AU 1 57130062 57130062 single base substitution A T intron_variant PACA-AU 1 57134828 57134828 single base substitution A T intron_variant PACA-AU 1 57136549 57136549 single base substitution T A intron_variant PACA-AU 1 57142980 57142980 single base substitution G A intron_variant PACA-AU 1 57143463 57143463 single base substitution G A intron_variant PACA-AU 1 57150904 57150904 single base substitution T C intron_variant PACA-AU 1 57154631 57154631 single base substitution T C intron_variant PACA-AU 1 57156133 57156133 single base substitution C T intron_variant PACA-AU 1 57156690 57156690 single base substitution G T intron_variant PACA-AU 1 57158378 57158378 single base substitution C T intron_variant PACA-AU 1 57164816 57164816 single base substitution T A intron_variant PACA-AU 1 57169714 57169714 single base substitution G A missense_variant V287I 859G>A PACA-AU 1 57170250 57170250 single base substitution G C intron_variant PACA-AU 1 57172561 57172561 single base substitution C G intron_variant PACA-AU 1 57173283 57173283 single base substitution C T missense_variant S519F 1556C>T PACA-AU 1 57177662 57177662 single base substitution G A 3_prime_UTR_variant PACA-AU 1 57177764 57177764 single base substitution C G 3_prime_UTR_variant PACA-AU 1 57178155 57178155 deletion of <=200bp A - 3_prime_UTR_variant PACA-AU 1 57178533 57178533 deletion of <=200bp A - 3_prime_UTR_variant PACA-AU 1 57179426 57179426 deletion of <=200bp T - 3_prime_UTR_variant PACA-AU 1 57181625 57181625 single base substitution C A downstream_gene_variant PACA-AU 1 57185885 57185885 single base substitution C T downstream_gene_variant PACA-CA 1 57108095 57108095 single base substitution G T upstream_gene_variant PACA-CA 1 57108196 57108196 single base substitution G A upstream_gene_variant PACA-CA 1 57111962 57111962 single base substitution T C intron_variant PACA-CA 1 57113711 57113711 single base substitution A G intron_variant PACA-CA 1 57115337 57115337 deletion of <=200bp T - intron_variant PACA-CA 1 57115505 57115505 single base substitution C T intron_variant PACA-CA 1 57117975 57117975 single base substitution C T intron_variant PACA-CA 1 57121574 57121574 single base substitution A G intron_variant PACA-CA 1 57123335 57123335 single base substitution C T intron_variant PACA-CA 1 57124014 57124014 single base substitution C T intron_variant PACA-CA 1 57124845 57124845 single base substitution G A intron_variant PACA-CA 1 57126778 57126778 single base substitution G T intron_variant PACA-CA 1 57126875 57126875 single base substitution G A intron_variant PACA-CA 1 57128248 57128248 single base substitution C A intron_variant PACA-CA 1 57128386 57128386 single base substitution T A intron_variant PACA-CA 1 57129502 57129502 single base substitution G A intron_variant PACA-CA 1 57129645 57129645 single base substitution G C intron_variant PACA-CA 1 57131080 57131080 single base substitution T C intron_variant PACA-CA 1 57131831 57131831 single base substitution A G intron_variant PACA-CA 1 57135182 57135182 single base substitution G A intron_variant PACA-CA 1 57139299 57139299 deletion of <=200bp A - intron_variant PACA-CA 1 57140023 57140023 single base substitution G A intron_variant PACA-CA 1 57143547 57143547 single base substitution T A intron_variant PACA-CA 1 57144164 57144164 single base substitution T A intron_variant PACA-CA 1 57146029 57146029 insertion of <=200bp - A intron_variant PACA-CA 1 57147240 57147240 single base substitution C G intron_variant PACA-CA 1 57147954 57147954 single base substitution G T intron_variant PACA-CA 1 57149278 57149278 single base substitution T C intron_variant PACA-CA 1 57150292 57150292 single base substitution C A intron_variant PACA-CA 1 57152176 57152176 single base substitution G T intron_variant PACA-CA 1 57152767 57152767 single base substitution G T intron_variant PACA-CA 1 57156816 57156816 single base substitution G C intron_variant PACA-CA 1 57159298 57159298 single base substitution G A intron_variant PACA-CA 1 57159375 57159375 single base substitution T A intron_variant PACA-CA 1 57160092 57160092 single base substitution C A intron_variant PACA-CA 1 57160873 57160873 deletion of <=200bp A - intron_variant PACA-CA 1 57160875 57160875 deletion of <=200bp A - intron_variant PACA-CA 1 57162734 57162734 single base substitution G C intron_variant PACA-CA 1 57167024 57167024 single base substitution C T intron_variant PACA-CA 1 57172145 57172145 single base substitution A G intron_variant PACA-CA 1 57177124 57177124 single base substitution C A 3_prime_UTR_variant PACA-CA 1 57179449 57179449 single base substitution T A 3_prime_UTR_variant PACA-CA 1 57180093 57180093 insertion of <=200bp - A 3_prime_UTR_variant PACA-CA 1 57181362 57181362 single base substitution T C downstream_gene_variant PACA-CA 1 57181406 57181406 single base substitution G A downstream_gene_variant PACA-CA 1 57183109 57183109 single base substitution T C downstream_gene_variant PACA-CA 1 57184272 57184272 single base substitution G C downstream_gene_variant PACA-CA 1 57185720 57185720 single base substitution C T downstream_gene_variant PAEN-IT 1 57118656 57118656 single base substitution C G intron_variant PAEN-IT 1 57151795 57151795 single base substitution G C intron_variant PBCA-DE 1 57106226 57106226 single base substitution T C upstream_gene_variant PBCA-DE 1 57124249 57124249 single base substitution T G intron_variant PBCA-DE 1 57134629 57134629 single base substitution C T intron_variant PBCA-DE 1 57145347 57145347 single base substitution C A intron_variant PBCA-DE 1 57156122 57156122 single base substitution G A intron_variant PBCA-DE 1 57156871 57156871 single base substitution G T intron_variant PBCA-DE 1 57158445 57158445 single base substitution G T intron_variant PBCA-DE 1 57160563 57160570 deletion of <=200bp TCTTTTCA - intron_variant PBCA-DE 1 57163254 57163254 single base substitution T A intron_variant PBCA-DE 1 57171688 57171688 single base substitution A T intron_variant PBCA-DE 1 57179637 57179637 single base substitution T C 3_prime_UTR_variant PBCA-DE 1 57184516 57184516 single base substitution C A downstream_gene_variant PBCA-DE 1 57185942 57185942 single base substitution C A downstream_gene_variant PRAD-CA 1 57111962 57111962 single base substitution T G intron_variant PRAD-CA 1 57151397 57151397 single base substitution A G intron_variant PRAD-CA 1 57167075 57167075 single base substitution A T intron_variant PRAD-CA 1 57174228 57174228 single base substitution A G 3_prime_UTR_variant PRAD-UK 1 57112942 57112943 deletion of <=200bp GT - intron_variant PRAD-UK 1 57133422 57133422 single base substitution A G intron_variant PRAD-UK 1 57137188 57137188 single base substitution T A intron_variant PRAD-UK 1 57137826 57137826 single base substitution T G intron_variant PRAD-UK 1 57147080 57147080 single base substitution T G intron_variant PRAD-UK 1 57180093 57180093 single base substitution T A 3_prime_UTR_variant PRAD-US 1 57161759 57161759 single base substitution C T missense_variant R239C 715C>T PRAD-US 1 57173319 57173319 single base substitution G A missense_variant R531H 1592G>A PRAD-US 1 57173364 57173364 single base substitution T A missense_variant L546Q 1637T>A READ-US 1 57173343 57173343 single base substitution T G missense_variant F539C 1616T>G RECA-EU 1 57115138 57115138 single base substitution T G intron_variant RECA-EU 1 57157129 57157129 single base substitution A C missense_variant E100A 299A>C RECA-EU 1 57159051 57159051 single base substitution G T intron_variant RECA-EU 1 57160026 57160026 single base substitution A T intron_variant RECA-EU 1 57164742 57164742 single base substitution G A intron_variant RECA-EU 1 57174169 57174169 single base substitution T C 3_prime_UTR_variant RECA-EU 1 57183836 57183836 single base substitution A G downstream_gene_variant SKCA-BR 1 57106260 57106260 single base substitution G A upstream_gene_variant SKCA-BR 1 57106974 57106974 single base substitution C T upstream_gene_variant SKCA-BR 1 57107939 57107939 insertion of <=200bp - TA upstream_gene_variant SKCA-BR 1 57110504 57110504 single base substitution C T upstream_gene_variant SKCA-BR 1 57113484 57113484 single base substitution A G intron_variant SKCA-BR 1 57114899 57114899 single base substitution C T intron_variant SKCA-BR 1 57117681 57117682 deletion of <=200bp AT - intron_variant SKCA-BR 1 57118053 57118053 single base substitution C T intron_variant SKCA-BR 1 57118069 57118069 single base substitution C T intron_variant SKCA-BR 1 57118098 57118098 single base substitution G A intron_variant SKCA-BR 1 57119405 57119405 single base substitution G A intron_variant SKCA-BR 1 57120388 57120388 single base substitution G A intron_variant SKCA-BR 1 57120904 57120904 single base substitution C T intron_variant SKCA-BR 1 57120933 57120933 insertion of <=200bp - TTATATACATA intron_variant SKCA-BR 1 57120933 57120933 insertion of <=200bp - TTATATACATATA intron_variant SKCA-BR 1 57120938 57120938 insertion of <=200bp - TATAC intron_variant SKCA-BR 1 57120940 57120940 single base substitution T C intron_variant SKCA-BR 1 57120942 57120942 single base substitution T C intron_variant SKCA-BR 1 57123147 57123147 single base substitution G A intron_variant SKCA-BR 1 57123317 57123317 single base substitution C T intron_variant SKCA-BR 1 57123377 57123377 single base substitution C T intron_variant SKCA-BR 1 57123572 57123572 single base substitution G A intron_variant SKCA-BR 1 57124249 57124249 single base substitution T G intron_variant SKCA-BR 1 57124370 57124370 single base substitution G A intron_variant SKCA-BR 1 57124746 57124746 single base substitution G A intron_variant SKCA-BR 1 57125132 57125132 single base substitution C T intron_variant SKCA-BR 1 57125184 57125184 single base substitution G A intron_variant SKCA-BR 1 57125380 57125380 single base substitution G T intron_variant SKCA-BR 1 57125432 57125432 single base substitution T A intron_variant SKCA-BR 1 57126108 57126108 single base substitution C T intron_variant SKCA-BR 1 57126198 57126198 single base substitution C T intron_variant SKCA-BR 1 57126229 57126229 single base substitution C T intron_variant SKCA-BR 1 57126594 57126594 single base substitution G A intron_variant SKCA-BR 1 57127037 57127037 single base substitution C T intron_variant SKCA-BR 1 57127057 57127057 single base substitution G A intron_variant SKCA-BR 1 57127212 57127213 deletion of <=200bp AT - intron_variant SKCA-BR 1 57128095 57128095 single base substitution C T intron_variant SKCA-BR 1 57128469 57128469 single base substitution G A intron_variant SKCA-BR 1 57129133 57129133 single base substitution C T intron_variant SKCA-BR 1 57129521 57129521 single base substitution C T intron_variant SKCA-BR 1 57129543 57129543 single base substitution T C intron_variant SKCA-BR 1 57129664 57129664 single base substitution C A intron_variant SKCA-BR 1 57130439 57130439 single base substitution G A intron_variant SKCA-BR 1 57130566 57130566 single base substitution T C intron_variant SKCA-BR 1 57130986 57130986 single base substitution A C intron_variant SKCA-BR 1 57131434 57131434 single base substitution T G intron_variant SKCA-BR 1 57131624 57131624 single base substitution C T intron_variant SKCA-BR 1 57131924 57131924 single base substitution C T intron_variant SKCA-BR 1 57132754 57132754 single base substitution C T intron_variant SKCA-BR 1 57132900 57132900 single base substitution C T intron_variant SKCA-BR 1 57133174 57133174 single base substitution G A intron_variant SKCA-BR 1 57133519 57133519 single base substitution G A intron_variant SKCA-BR 1 57133753 57133753 single base substitution C T intron_variant SKCA-BR 1 57133955 57133955 single base substitution G A intron_variant SKCA-BR 1 57134929 57134929 single base substitution C T intron_variant SKCA-BR 1 57135380 57135380 single base substitution C T intron_variant SKCA-BR 1 57135410 57135410 single base substitution G A intron_variant SKCA-BR 1 57135852 57135852 single base substitution G A intron_variant SKCA-BR 1 57136874 57136874 single base substitution G A intron_variant SKCA-BR 1 57137347 57137347 single base substitution C T intron_variant SKCA-BR 1 57137892 57137892 single base substitution G A intron_variant SKCA-BR 1 57140345 57140345 single base substitution A C intron_variant SKCA-BR 1 57140462 57140462 single base substitution C A intron_variant SKCA-BR 1 57144008 57144008 single base substitution C T intron_variant SKCA-BR 1 57144693 57144693 single base substitution A G intron_variant SKCA-BR 1 57144915 57144915 single base substitution T G intron_variant SKCA-BR 1 57145087 57145087 single base substitution C T intron_variant SKCA-BR 1 57145088 57145088 single base substitution C T intron_variant SKCA-BR 1 57146172 57146172 single base substitution C T intron_variant SKCA-BR 1 57146961 57146961 single base substitution T C intron_variant SKCA-BR 1 57147392 57147392 single base substitution C T intron_variant SKCA-BR 1 57147532 57147532 single base substitution G A intron_variant SKCA-BR 1 57148132 57148132 single base substitution C T intron_variant SKCA-BR 1 57148669 57148669 single base substitution G A intron_variant SKCA-BR 1 57149393 57149393 single base substitution G A intron_variant SKCA-BR 1 57149497 57149497 single base substitution A G intron_variant SKCA-BR 1 57149543 57149543 single base substitution G A intron_variant SKCA-BR 1 57149699 57149699 single base substitution G A intron_variant SKCA-BR 1 57149913 57149913 single base substitution G A intron_variant SKCA-BR 1 57150609 57150609 single base substitution G A intron_variant SKCA-BR 1 57150808 57150808 single base substitution A C intron_variant SKCA-BR 1 57150993 57150993 single base substitution A T intron_variant SKCA-BR 1 57154074 57154074 single base substitution C T intron_variant SKCA-BR 1 57154512 57154512 single base substitution C T intron_variant SKCA-BR 1 57154970 57154970 single base substitution C T intron_variant SKCA-BR 1 57155562 57155566 deletion of <=200bp GACAC - intron_variant SKCA-BR 1 57155570 57155576 deletion of <=200bp GACACAC - intron_variant SKCA-BR 1 57156319 57156319 single base substitution C T intron_variant SKCA-BR 1 57157668 57157668 single base substitution G A intron_variant SKCA-BR 1 57158537 57158537 single base substitution C T intron_variant SKCA-BR 1 57160189 57160189 single base substitution G A intron_variant SKCA-BR 1 57160492 57160492 single base substitution C T intron_variant SKCA-BR 1 57162929 57162929 single base substitution T A intron_variant SKCA-BR 1 57165304 57165304 single base substitution C T intron_variant SKCA-BR 1 57165358 57165358 single base substitution C T intron_variant SKCA-BR 1 57165919 57165919 single base substitution G A intron_variant SKCA-BR 1 57166218 57166218 single base substitution C T intron_variant SKCA-BR 1 57166833 57166833 single base substitution G A intron_variant SKCA-BR 1 57167352 57167352 single base substitution G A intron_variant SKCA-BR 1 57167494 57167494 single base substitution G A intron_variant SKCA-BR 1 57169424 57169424 single base substitution C T intron_variant SKCA-BR 1 57171572 57171572 single base substitution C T intron_variant SKCA-BR 1 57173778 57173778 single base substitution C T 3_prime_UTR_variant SKCA-BR 1 57175279 57175279 single base substitution G A 3_prime_UTR_variant SKCA-BR 1 57178072 57178072 single base substitution G C 3_prime_UTR_variant SKCA-BR 1 57178353 57178353 single base substitution C T 3_prime_UTR_variant SKCA-BR 1 57178541 57178541 single base substitution G A 3_prime_UTR_variant SKCA-BR 1 57179286 57179286 single base substitution G A 3_prime_UTR_variant SKCA-BR 1 57180603 57180603 single base substitution G A 3_prime_UTR_variant SKCA-BR 1 57181080 57181080 single base substitution G A downstream_gene_variant SKCA-BR 1 57181105 57181105 single base substitution G A downstream_gene_variant SKCA-BR 1 57181269 57181269 single base substitution G A downstream_gene_variant SKCA-BR 1 57181382 57181382 single base substitution A G downstream_gene_variant SKCA-BR 1 57182416 57182416 single base substitution G A downstream_gene_variant SKCA-BR 1 57182444 57182444 single base substitution G A downstream_gene_variant SKCA-BR 1 57182737 57182737 single base substitution G A downstream_gene_variant SKCA-BR 1 57183106 57183106 single base substitution G A downstream_gene_variant SKCA-BR 1 57184066 57184066 single base substitution C T downstream_gene_variant SKCA-BR 1 57185541 57185541 single base substitution C T downstream_gene_variant SKCM-US 1 57140109 57140109 single base substitution G A synonymous_variant Q50Q 150G>A SKCM-US 1 57140173 57140173 single base substitution C T missense_variant R72C 214C>T SKCM-US 1 57157076 57157076 single base substitution G A synonymous_variant V82V 246G>A SKCM-US 1 57157100 57157100 single base substitution T C synonymous_variant F90F 270T>C SKCM-US 1 57158174 57158174 single base substitution C T splice_region_variant SKCM-US 1 57159464 57159464 single base substitution G A missense_variant E168K 502G>A SKCM-US 1 57159492 57159492 single base substitution C T missense_variant P177L 530C>T SKCM-US 1 57161680 57161680 single base substitution C T synonymous_variant L212L 636C>T SKCM-US 1 57161729 57161729 single base substitution G A missense_variant G229S 685G>A SKCM-US 1 57161734 57161734 single base substitution C T synonymous_variant V230V 690C>T SKCM-US 1 57161747 57161747 single base substitution G A missense_variant E235K 703G>A SKCM-US 1 57161759 57161759 single base substitution C T missense_variant R239C 715C>T SKCM-US 1 57161811 57161811 single base substitution G A missense_variant R256Q 767G>A SKCM-US 1 57161832 57161832 single base substitution G A missense_variant R263K 788G>A SKCM-US 1 57169687 57169687 single base substitution C T missense_variant P278S 832C>T SKCM-US 1 57169700 57169700 single base substitution C T missense_variant S282F 845C>T SKCM-US 1 57169747 57169747 single base substitution G A missense_variant E298K 892G>A SKCM-US 1 57169756 57169756 single base substitution G A missense_variant E301K 901G>A SKCM-US 1 57169798 57169798 single base substitution G A missense_variant D315N 943G>A SKCM-US 1 57169911 57169911 single base substitution G A missense_variant M352I 1056G>A SKCM-US 1 57169951 57169951 single base substitution C T missense_variant H366Y 1096C>T SKCM-US 1 57169955 57169955 single base substitution C T missense_variant P367L 1100C>T SKCM-US 1 57169962 57169962 single base substitution G A synonymous_variant R369R 1107G>A SKCM-US 1 57169985 57169985 single base substitution G A missense_variant S377N 1130G>A SKCM-US 1 57169990 57169990 single base substitution A T stop_gained K379* 1135A>T SKCM-US 1 57171786 57171786 single base substitution C T missense_variant R439C 1315C>T SKCM-US 1 57171796 57171796 single base substitution G A missense_variant R442K 1325G>A SKCM-US 1 57171824 57171824 single base substitution G A synonymous_variant V451V 1353G>A SKCM-US 1 57171830 57171830 single base substitution G A missense_variant M453I 1359G>A SKCM-US 1 57173217 57173217 single base substitution G A missense_variant R497K 1490G>A SKCM-US 1 57173220 57173220 single base substitution C T missense_variant P498L 1493C>T SKCM-US 1 57173265 57173265 single base substitution C T missense_variant S513F 1538C>T SKCM-US 1 57173338 57173338 single base substitution G A missense_variant M537I 1611G>A SKCM-US 1 57185697 57185697 single base substitution G A downstream_gene_variant SKCM-US 1 57185864 57185864 single base substitution G A downstream_gene_variant SKCM-US 1 57185941 57185941 single base substitution C T downstream_gene_variant SKCM-US 1 57185991 57185991 single base substitution C T downstream_gene_variant STAD-US 1 57140083 57140083 single base substitution G C missense_variant V42L 124G>C STAD-US 1 57158050 57158050 single base substitution G T missense_variant R117M 350G>T STAD-US 1 57158066 57158066 single base substitution G A synonymous_variant Q122Q 366G>A STAD-US 1 57159508 57159508 single base substitution T C synonymous_variant P182P 546T>C STAD-US 1 57169680 57169680 single base substitution C T synonymous_variant Y275Y 825C>T STAD-US 1 57169927 57169927 single base substitution C T missense_variant H358Y 1072C>T STAD-US 1 57169933 57169933 deletion of <=200bp C - frameshift_variant P360 STAD-US 1 57169936 57169936 single base substitution C A missense_variant P361T 1081C>A STAD-US 1 57173228 57173228 single base substitution A T missense_variant S501C 1501A>T STAD-US 1 57173341 57173341 deletion of <=200bp T - frameshift_variant D538 THCA-SA 1 57178926 57178926 single base substitution T G 3_prime_UTR_variant THCA-SA 1 57179225 57179225 single base substitution A G 3_prime_UTR_variant UCEC-US 1 57140093 57140093 single base substitution A G missense_variant K45R 134A>G UCEC-US 1 57140116 57140116 single base substitution C T missense_variant R53C 157C>T UCEC-US 1 57140117 57140117 single base substitution G A missense_variant R53H 158G>A UCEC-US 1 57157066 57157066 single base substitution G T splice_acceptor_variant UCEC-US 1 57157092 57157092 single base substitution G T missense_variant D88Y 262G>T UCEC-US 1 57158174 57158174 single base substitution C T splice_region_variant UCEC-US 1 57161618 57161618 single base substitution G T missense_variant G192C 574G>T UCEC-US 1 57169668 57169668 single base substitution T C synonymous_variant D271D 813T>C UCEC-US 1 57169786 57169786 single base substitution T G missense_variant L311V 931T>G UCEC-US 1 57169847 57169847 single base substitution G A missense_variant R331Q 992G>A UCEC-US 1 57169917 57169917 single base substitution T C synonymous_variant D354D 1062T>C UCEC-US 1 57169985 57169985 single base substitution G T missense_variant S377I 1130G>T UCEC-US 1 57171819 57171819 single base substitution T C missense_variant Y450H 1348T>C

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 100879 COSM95065 c.1381G>A p.D461N Substitution - Missense 1:56706179-56706179 + TCGA-D3-A51T-06 COSM3491106 c.943G>A p.D315N Substitution - Missense 1:56704125-56704125 + Au4 COSM5604593 c.1026C>T p.L342L Substitution - coding silent 1:56704208-56704208 + HCT8 COSM2194688 c.950A>G p.Q317R Substitution - Missense 1:56704132-56704132 + S00946 COSM317914 c.1027G>T p.A343S Substitution - Missense 1:56704209-56704209 + TCGA-GN-A269-01 COSM3491109 c.1056G>A p.M352I Substitution - Missense 1:56704238-56704238 + pfg043T COSM4755934 c.853G>A p.A285T Substitution - Missense 1:56704035-56704035 + HCC2157 COSM635 c.1567A>G p.S523G Substitution - Missense 1:56707621-56707621 + PTC-7C COSM4144105 c.111A>G p.L37L Substitution - coding silent 1:56674397-56674397 + S00933 COSM314431 c.1293G>T p.K431N Substitution - Missense 1:56704475-56704475 + 587228 COSM1221988 c.218A>G p.H73R Substitution - Missense 1:56674504-56674504 + pfg043T COSM4755935 c.853G>A p.A285T Substitution - Missense 1:56704035-56704035 + Pat_41_B COSM5847039 c.74G>A p.G25D Substitution - Missense 1:56645461-56645461 + HCC174 COSM3705944 c.1272G>A p.K424K Substitution - coding silent 1:56704454-56704454 + HCT15 COSM2194688 c.950A>G p.Q317R Substitution - Missense 1:56704132-56704132 + TCGA-D1-A103-01 COSM911064 c.237-1G>T p.? Unknown 1:56691393-56691393 + S00944 COSM317913 c.902A>T p.E301V Substitution - Missense 1:56704084-56704084 + TCGA-EE-A2M5-06 COSM3491124 c.1490G>A p.R497K Substitution - Missense 1:56707544-56707544 + 2474085 COSM911068 c.474C>T p.F158F Substitution - coding silent 1:56692501-56692501 + ESCC-129T COSM3934788 c.346G>T p.A116S Substitution - Missense 1:56692373-56692373 + TCGA-AP-A051-01 COSM911073 c.574G>T p.G192C Substitution - Missense 1:56695945-56695945 + TCGA-KK-A59V-01 COSM4878371 c.1592G>A p.R531H Substitution - Missense 1:56707646-56707646 + PT42 COSM5924859 c.476-1G>A p.? Unknown 1:56693764-56693764 + HT115 COSM2194666 c.617C>T p.A206V Substitution - Missense 1:56695988-56695988 + UMC11 COSM2194692 c.970T>C p.Y324H Substitution - Missense 1:56704152-56704152 + TCGA-BR-8680-01 COSM4009053 c.1072C>T p.H358Y Substitution - Missense 1:56704254-56704254 + TCGA-EB-A5SG-06 COSM3865862 c.767G>A p.R256Q Substitution - Missense 1:56696138-56696138 + T3056 COSM4717652 c.842C>A p.P281H Substitution - Missense 1:56704024-56704024 + TCGA-BT-A2LB-01 COSM1738570 c.716G>A p.R239H Substitution - Missense 1:56696087-56696087 + YUOMEGA COSM5381292 c.420G>A p.L140L Substitution - coding silent 1:56692447-56692447 + TCGA-AA-3858-01 COSM272044 c.1106G>T p.R369M Substitution - Missense 1:56704288-56704288 + LIM2405 COSM1343629 c.1614delT p.F540fs*7 Deletion - Frameshift 1:56707668-56707668 + TCGA-EB-A5SG-06 COSM3865867 c.1096C>T p.H366Y Substitution - Missense 1:56704278-56704278 + TCGA-BR-6852-01 COSM4009044 c.350G>T p.R117M Substitution - Missense 1:56692377-56692377 + HCC174T COSM3705944 c.1272G>A p.K424K Substitution - coding silent 1:56704454-56704454 + TCGA-AZ-4315-01 COSM172348 c.1220G>A p.R407Q Substitution - Missense 1:56704402-56704402 + LUAD-CHTN-MAD06-00678 COSM360681 c.573A>T p.A191A Substitution - coding silent 1:56695944-56695944 + Pat_06_B COSM5847044 c.499G>T p.G167C Substitution - Missense 1:56693788-56693788 + SNUH_G13_S1 COSM3997606 c.351G>A p.R117R Substitution - coding silent 1:56692378-56692378 + CSCC-55-T COSM107875 c.715C>T p.R239C Substitution - Missense 1:56696086-56696086 + TCGA-CA-6717-01 COSM1343615 c.555C>T p.I185I Substitution - coding silent 1:56693844-56693844 + YUGOE COSM1687737 c.1234_1235CC>TT p.P412L Substitution - Missense 1:56704416-56704417 + TCGA-EK-A2RC-01 COSM4848646 c.346G>A p.A116T Substitution - Missense 1:56692373-56692373 + YUOTHO COSM5381294 c.941G>A p.G314D Substitution - Missense 1:56704123-56704123 + YUFIT COSM192566 c.1544C>T p.S515F Substitution - Missense 1:56707598-56707598 + TCGA-BS-A0UV-01 COSM911067 c.262G>T p.D88Y Substitution - Missense 1:56691419-56691419 + TCGA-EE-A20F-06 COSM3491102 c.845C>T p.S282F Substitution - Missense 1:56704027-56704027 + TCGA-EE-A2GL-06 COSM3491108 c.1056G>A p.M352I Substitution - Missense 1:56704238-56704238 + ESCC_11 COSM5624081 c.926A>G p.N309S Substitution - Missense 1:56704108-56704108 + TCGA-BR-4361-01 COSM4009055 c.1081C>A p.P361T Substitution - Missense 1:56704263-56704263 + TCGA-CC-5260-01 COSM4937433 c.663G>A p.T221T Substitution - coding silent 1:56696034-56696034 + TCGA-D3-A2JH-06 COSM3491089 c.502G>A p.E168K Substitution - Missense 1:56693791-56693791 + TCGA-D9-A1JW-06 COSM3491101 c.832C>T p.P278S Substitution - Missense 1:56704014-56704014 + TCGA-37-4135-01 COSM681667 c.1445G>C p.G482A Substitution - Missense 1:56707499-56707499 + Pat_46_A COSM5847040 c.220C>T p.P74S Substitution - Missense 1:56674506-56674506 + CSCC-60-T COSM911068 c.474C>T p.F158F Substitution - coding silent 1:56692501-56692501 + TCGA-DK-A3IL-01 COSM1296605 c.1099C>A p.P367T Substitution - Missense 1:56704281-56704281 + TCGA-EE-A3AA-06 COSM911069 c.474C>T p.F158F Substitution - coding silent 1:56692501-56692501 + TCGA-DA-A1I1-06 COSM3491114 c.1130G>A p.S377N Substitution - Missense 1:56704312-56704312 + TCGA-EE-A2MU-06 COSM171102 c.1315C>T p.R439C Substitution - Missense 1:56706113-56706113 + 2474086 COSM5880256 c.789-5C>T p.? Unknown 1:56703966-56703966 + CHOL12 COSM1744175 c.1326A>C p.R442S Substitution - Missense 1:56706124-56706124 + 8061109 COSM2194725 c.1556C>T p.S519F Substitution - Missense 1:56707610-56707610 + TCGA-AP-A051-01 COSM911063 c.158G>A p.R53H Substitution - Missense 1:56674444-56674444 + TCGA-FW-A3R5-06 COSM3865865 c.892G>A p.E298K Substitution - Missense 1:56704074-56704074 + HCC2157 COSM635 c.1567A>G p.S523G Substitution - Missense 1:56707621-56707621 + YULAN COSM1687739 c.1279G>A p.D427N Substitution - Missense 1:56704461-56704461 + TCGA-ER-A19H-06 COSM3491091 c.530C>T p.P177L Substitution - Missense 1:56693819-56693819 + TCGA-BS-A0UV-01 COSM911066 c.262G>T p.D88Y Substitution - Missense 1:56691419-56691419 + pfg020T COSM172348 c.1220G>A p.R407Q Substitution - Missense 1:56704402-56704402 + TCGA-GN-A269-01 COSM3491108 c.1056G>A p.M352I Substitution - Missense 1:56704238-56704238 + LUAD-S01331 COSM396492 c.1611G>A p.M537I Substitution - Missense 1:56707665-56707665 + TCGA-AP-A056-01 COSM1584637 c.1348T>C p.Y450H Substitution - Missense 1:56706146-56706146 + TCGA-AP-A056-01 COSM911062 c.157C>T p.R53C Substitution - Missense 1:56674443-56674443 + B83 COSM1748525 c.871G>A p.E291K Substitution - Missense 1:56704053-56704053 + TCGA-AA-A00N-01 COSM172348 c.1220G>A p.R407Q Substitution - Missense 1:56704402-56704402 + YULAPE COSM1687732 c.550G>A p.V184I Substitution - Missense 1:56693839-56693839 + CSCC-31-T COSM4515565 c.1175_1176CC>TT p.P392L Substitution - Missense 1:56704357-56704358 + YUPAT COSM1263042 c.214C>T p.R72C Substitution - Missense 1:56674500-56674500 + 2474086 COSM5880257 c.789-5C>T p.? Unknown 1:56703966-56703966 + ESO-859 COSM1239933 c.264delT p.F90fs*3 Deletion - Frameshift 1:56691421-56691421 + HCC2157 COSM635 c.1567A>G p.S523G Substitution - Missense 1:56707621-56707621 + TCGA-AS-3778-01 COSM1492119 c.95-2A>T p.? Unknown 1:56674379-56674379 + TCGA-FW-A3R5-06 COSM3865868 c.1359G>A p.M453I Substitution - Missense 1:56706157-56706157 + Patient_1 COSM5413679 c.563+6A>T p.? Unknown 1:56693858-56693858 + TCGA-AA-A010-01 COSM284246 c.522C>T p.C174C Substitution - coding silent 1:56693811-56693811 + TCGA-AZ-4315-01 COSM20524 c.1220G>A p.R407Q Substitution - Missense 1:56704402-56704402 + TCGA-BR-A4QL-01 COSM4009051 c.825C>T p.Y275Y Substitution - coding silent 1:56704007-56704007 + CSCC-27-T COSM3865859 c.685G>A p.G229S Substitution - Missense 1:56696056-56696056 + SK01600_M COSM1600267 c.619C>T p.L207F Substitution - Missense 1:56695990-56695990 + 1191-01-02TD COSM5417849 c.352C>T p.R118W Substitution - Missense 1:56692379-56692379 + CSCC-49-T COSM4451392 c.1196A>G p.K399R Substitution - Missense 1:56704378-56704378 + BCM321T COSM4955228 c.1285G>T p.E429* Substitution - Nonsense 1:56704467-56704467 + YULAD COSM3491093 c.636C>T p.L212L Substitution - coding silent 1:56696007-56696007 + Patient_1 COSM5413681 c.563+7A>T p.? Unknown 1:56693859-56693859 + TCGA-G2-A2EF-01 COSM1296607 c.1381G>A p.D461N Substitution - Missense 1:56706179-56706179 + TCGA-DA-A3F5-06 COSM3491088 c.270T>C p.F90F Substitution - coding silent 1:56691427-56691427 + TCGA-66-2756-01 COSM681675 c.237-1G>A p.? Unknown 1:56691393-56691393 + 35M COSM5582237 c.1078C>T p.P360S Substitution - Missense 1:56704260-56704260 + YUPAT COSM1263043 c.214C>T p.R72C Substitution - Missense 1:56674500-56674500 + HCC1187 COSM636 c.1111C>A p.P371T Substitution - Missense 1:56704293-56704293 + TCGA-D1-A103-01 COSM911074 c.813T>C p.D271D Substitution - coding silent 1:56703995-56703995 + 587364 COSM166749 c.679C>T p.R227* Substitution - Nonsense 1:56696050-56696050 + TCGA-B5-A11E-01 COSM911068 c.474C>T p.F158F Substitution - coding silent 1:56692501-56692501 + TCGA-FW-A3R5-06 COSM3865859 c.685G>A p.G229S Substitution - Missense 1:56696056-56696056 + TCGA-F5-6814-01 COSM3419339 c.1616T>G p.F539C Substitution - Missense 1:56707670-56707670 + TCGA-AP-A0LM-01 COSM911080 c.1062T>C p.D354D Substitution - coding silent 1:56704244-56704244 + YULAPE COSM1687733 c.550G>A p.V184I Substitution - Missense 1:56693839-56693839 + ATL063 COSM5705500 c.1152G>T p.L384F Substitution - Missense 1:56704334-56704334 + LP6005935-DNA_A03 COSM5032549 c.187C>T p.R63* Substitution - Nonsense 1:56674473-56674473 + TCGA-FW-A3R5-06 COSM3865869 c.1359G>A p.M453I Substitution - Missense 1:56706157-56706157 + S00933 COSM314430 c.1293G>T p.K431N Substitution - Missense 1:56704475-56704475 + Au4 COSM5604592 c.1026C>T p.L342L Substitution - coding silent 1:56704208-56704208 + Pat_46_B COSM5847040 c.220C>T p.P74S Substitution - Missense 1:56674506-56674506 + T1154 COSM1162339 c.523G>A p.G175R Substitution - Missense 1:56693812-56693812 + TCGA-66-2756-01 COSM681674 c.237-1G>A p.? Unknown 1:56691393-56691393 + TCGA-CD-8526-01 COSM4009042 c.124G>C p.V42L Substitution - Missense 1:56674410-56674410 + YUROG COSM5381290 c.280G>A p.E94K Substitution - Missense 1:56691437-56691437 + TCGA-BS-A0UF-01 COSM911077 c.931T>G p.L311V Substitution - Missense 1:56704113-56704113 + TCGA-BR-6452-01 COSM4009049 c.546T>C p.P182P Substitution - coding silent 1:56693835-56693835 + TCGA-G9-6365-01 COSM1126979 c.1637T>A p.L546Q Substitution - Missense 1:56707691-56707691 + T2940 COSM1239934 c.264delT p.F90fs*3 Deletion - Frameshift 1:56691421-56691421 + 8035125 COSM1474105 c.859G>A p.V287I Substitution - Missense 1:56704041-56704041 + CSCC-56-T COSM4532502 c.188G>T p.R63L Substitution - Missense 1:56674474-56674474 + TCGA-A6-6780-01 COSM1239934 c.264delT p.F90fs*3 Deletion - Frameshift 1:56691421-56691421 + S00944 COSM317912 c.902A>T p.E301V Substitution - Missense 1:56704084-56704084 + TCGA-ER-A19A-06 COSM3491128 c.1538C>T p.S513F Substitution - Missense 1:56707592-56707592 + TCGA-EE-A2MU-06 COSM3491118 c.1315C>T p.R439C Substitution - Missense 1:56706113-56706113 + TCGA-BR-6452-01 COSM4009046 c.366G>A p.Q122Q Substitution - coding silent 1:56692393-56692393 + TCGA-D1-A103-01 COSM911075 c.813T>C p.D271D Substitution - coding silent 1:56703995-56703995 + TCGA-EB-A5SG-06 COSM3865866 c.1096C>T p.H366Y Substitution - Missense 1:56704278-56704278 + 470 COSM4437683 c.1270delA p.K424fs*9 Deletion - Frameshift 1:56704452-56704452 + Z138 COSM1738569 c.716G>A p.R239H Substitution - Missense 1:56696087-56696087 + TCGA-D3-A51R-06 COSM3491113 c.1107G>A p.R369R Substitution - coding silent 1:56704289-56704289 + YUPAER COSM3491100 c.832C>T p.P278S Substitution - Missense 1:56704014-56704014 + NB-1194 COSM1287382 c.1050T>G p.S350S Substitution - coding silent 1:56704232-56704232 + TCGA-DA-A3F5-06 COSM3491087 c.270T>C p.F90F Substitution - coding silent 1:56691427-56691427 + LIM1899 COSM4640014 c.1229G>A p.S410N Substitution - Missense 1:56704411-56704411 + 2474086 COSM911068 c.474C>T p.F158F Substitution - coding silent 1:56692501-56692501 + PD4129a COSM163721 c.1507G>C p.D503H Substitution - Missense 1:56707561-56707561 + LAU63 COSM235241 c.678C>T p.I226I Substitution - coding silent 1:56696049-56696049 + TCGA-EE-A3J7-06 COSM3491120 c.1325G>A p.R442K Substitution - Missense 1:56706123-56706123 + LIM2405 COSM1343628 c.1614delT p.F540fs*7 Deletion - Frameshift 1:56707668-56707668 + TCGA-AA-3858-01 COSM272045 c.1106G>T p.R369M Substitution - Missense 1:56704288-56704288 + CSCC-32-T COSM4451104 c.1063A>G p.S355G Substitution - Missense 1:56704245-56704245 + TCGA-BS-A0UV-01 COSM911061 c.134A>G p.K45R Substitution - Missense 1:56674420-56674420 + S00933 COSM314431 c.1293G>T p.K431N Substitution - Missense 1:56704475-56704475 + TCGA-EE-A2MR-06 COSM3491104 c.901G>A p.E301K Substitution - Missense 1:56704083-56704083 + TCGA-EE-A2M5-06 COSM3491099 c.788G>A p.R263K Substitution - Missense 1:56696159-56696159 + CSCC-27-T COSM3865858 c.685G>A p.G229S Substitution - Missense 1:56696056-56696056 + CN-AML-NR-08-Dx COSM5425685 c.237A>G p.L79L Substitution - coding silent 1:56691394-56691394 + 19M COSM5579397 c.1057G>A p.D353N Substitution - Missense 1:56704239-56704239 + TCGA-EE-A2MN-06 COSM3491084 c.150G>A p.Q50Q Substitution - coding silent 1:56674436-56674436 + SK01600_P COSM1600267 c.619C>T p.L207F Substitution - Missense 1:56695990-56695990 + TCGA-CM-6674-01 COSM1343624 c.1542_1543delCT p.L516fs*25 Deletion - Frameshift 1:56707596-56707597 + TCGA-BR-4361-01 COSM4009054 c.1081C>A p.P361T Substitution - Missense 1:56704263-56704263 + 19M COSM5579396 c.1057G>A p.D353N Substitution - Missense 1:56704239-56704239 + PT36 COSM1263042 c.214C>T p.R72C Substitution - Missense 1:56674500-56674500 + TCGA-BS-A0UV-01 COSM911060 c.134A>G p.K45R Substitution - Missense 1:56674420-56674420 + 66 COSM5742716 c.264_265insT p.M91fs*10 Insertion - Frameshift 1:56691421-56691422 + TCGA-CA-6717-01 COSM1343627 c.1568G>A p.S523N Substitution - Missense 1:56707622-56707622 + CN-AML-NR-08-Dx COSM5425686 c.1399T>C p.L467L Substitution - coding silent 1:56706197-56706197 + TCGA-D1-A17B-01 COSM911071 c.475G>A p.G159R Substitution - Missense 1:56692502-56692502 + PD1398a COSM20524 c.1220G>A p.R407Q Substitution - Missense 1:56704402-56704402 + TCGA-B6-A0IJ-01 COSM426505 c.476G>T p.G159V Substitution - Missense 1:56693765-56693765 + CN-AML-08-T COSM5425684 c.237A>G p.L79L Substitution - coding silent 1:56691394-56691394 + TCGA-EE-A2M5-06 COSM3491123 c.1490G>A p.R497K Substitution - Missense 1:56707544-56707544 + TCGA-AP-A051-01 COSM911072 c.574G>T p.G192C Substitution - Missense 1:56695945-56695945 + TCGA-D3-A51T-06 COSM3491107 c.943G>A p.D315N Substitution - Missense 1:56704125-56704125 + B86-Tumor COSM3930828 c.1396C>G p.L466V Substitution - Missense 1:56706194-56706194 + C0048T COSM4165262 c.299A>C p.E100A Substitution - Missense 1:56691456-56691456 + TCGA-AP-A051-01 COSM1584638 c.1130G>T p.S377I Substitution - Missense 1:56704312-56704312 + TCGA-AP-A0LM-01 COSM1584639 c.1062T>C p.D354D Substitution - coding silent 1:56704244-56704244 + TCGA-D9-A6EC-06 COSM1263043 c.214C>T p.R72C Substitution - Missense 1:56674500-56674500 + 8035125 COSM426507 c.859G>A p.V287I Substitution - Missense 1:56704041-56704041 + B86-Tumor COSM3930827 c.1396C>G p.L466V Substitution - Missense 1:56706194-56706194 + HN_63114 COSM125581 c.1250C>A p.A417D Substitution - Missense 1:56704432-56704432 + TCGA-ER-A19H-06 COSM3491092 c.530C>T p.P177L Substitution - Missense 1:56693819-56693819 + CSCC-56-T COSM4532503 c.188G>T p.R63L Substitution - Missense 1:56674474-56674474 + TCGA-AP-A056-01 COSM1584641 c.157C>T p.R53C Substitution - Missense 1:56674443-56674443 + Pat_46_A COSM5847041 c.220C>T p.P74S Substitution - Missense 1:56674506-56674506 + TCGA-FW-A3R5-06 COSM3865861 c.703G>A p.E235K Substitution - Missense 1:56696074-56696074 + TCGA-BT-A2LB-01 COSM3790157 c.908C>T p.T303I Substitution - Missense 1:56704090-56704090 + CSCC-35-T COSM4526988 c.1432G>A p.E478K Substitution - Missense 1:56707486-56707486 + CSCC-31-T COSM4515564 c.1175_1176CC>TT p.P392L Substitution - Missense 1:56704357-56704358 + TCGA-CA-6717-01 COSM1343614 c.555C>T p.I185I Substitution - coding silent 1:56693844-56693844 + TCGA-G9-6342-01 COSM3491097 c.715C>T p.R239C Substitution - Missense 1:56696086-56696086 + TCGA-18-3412-01 COSM1646202 c.215G>A p.R72H Substitution - Missense 1:56674501-56674501 + TCGA-21-5787-01 COSM681670 c.523G>C p.G175R Substitution - Missense 1:56693812-56693812 + Pat_41_B COSM5847038 c.74G>A p.G25D Substitution - Missense 1:56645461-56645461 + UMC11 COSM2194693 c.970T>C p.Y324H Substitution - Missense 1:56704152-56704152 + AOCS-119-3-9 COSM3944193 c.1249G>T p.A417S Substitution - Missense 1:56704431-56704431 + T3101 COSM4717646 c.616G>T p.A206S Substitution - Missense 1:56695987-56695987 + YULAN COSM1687738 c.1279G>A p.D427N Substitution - Missense 1:56704461-56704461 + AOCS-134-3-9 COSM3944196 c.1450T>C p.S484P Substitution - Missense 1:56707504-56707504 + TCGA-BT-A2LB-01 COSM3790156 c.908C>T p.T303I Substitution - Missense 1:56704090-56704090 + BCM321T COSM4955229 c.1285G>T p.E429* Substitution - Nonsense 1:56704467-56704467 + TCGA-GN-A26C-01 COSM3491089 c.502G>A p.E168K Substitution - Missense 1:56693791-56693791 + TCGA-BW-A5NO-01 COSM4933256 c.1608C>A p.T536T Substitution - coding silent 1:56707662-56707662 + CSCC-55-T COSM3491097 c.715C>T p.R239C Substitution - Missense 1:56696086-56696086 + TCGA-EE-A2A0-06 COSM396492 c.1611G>A p.M537I Substitution - Missense 1:56707665-56707665 + YULAD COSM3491094 c.636C>T p.L212L Substitution - coding silent 1:56696007-56696007 + Patient_1 COSM5413682 c.563+7A>T p.? Unknown 1:56693859-56693859 + TCGA-EE-A3AE-06 COSM3491097 c.715C>T p.R239C Substitution - Missense 1:56696086-56696086 + TCGA-EE-A20F-06 COSM3491103 c.845C>T p.S282F Substitution - Missense 1:56704027-56704027 + SJOS010_M COSM3491114 c.1130G>A p.S377N Substitution - Missense 1:56704312-56704312 + HA_N88_14 COSM5967055 c.1132C>G p.P378A Substitution - Missense 1:56704314-56704314 + CSCC-49-T COSM4451393 c.1196A>G p.K399R Substitution - Missense 1:56704378-56704378 + Pat_76_A COSM5847043 c.482C>T p.S161F Substitution - Missense 1:56693771-56693771 + HCT8 COSM2194689 c.950A>G p.Q317R Substitution - Missense 1:56704132-56704132 + PD4092a COSM163720 c.811G>T p.D271Y Substitution - Missense 1:56703993-56703993 + TCGA-EE-A183-06 COSM3491120 c.1325G>A p.R442K Substitution - Missense 1:56706123-56706123 + T3101 COSM4717647 c.616G>T p.A206S Substitution - Missense 1:56695987-56695987 + Patient_1 COSM5413680 c.563+6A>T p.? Unknown 1:56693858-56693858 + 587376 COSM1221990 c.431A>T p.N144I Substitution - Missense 1:56692458-56692458 + TCGA-AP-A051-01 COSM911081 c.1130G>T p.S377I Substitution - Missense 1:56704312-56704312 + 66 COSM5742715 c.264_265insT p.M91fs*10 Insertion - Frameshift 1:56691421-56691422 + TCGA-AA-A00A-01 COSM273747 c.1613_1614insT p.E541fs*1 Insertion - Frameshift 1:56707667-56707668 + TCGA-G9-6365-01 COSM1126977 c.1637T>A p.L546Q Substitution - Missense 1:56707691-56707691 + OSCC-GB_00410111 COSM3711848 c.897A>G p.K299K Substitution - coding silent 1:56704079-56704079 + TCGA-D3-A2JH-06 COSM3491090 c.502G>A p.E168K Substitution - Missense 1:56693791-56693791 + TCGA-EE-A3AE-06 COSM107875 c.715C>T p.R239C Substitution - Missense 1:56696086-56696086 + YUWAND COSM1687734 c.838G>A p.D280N Substitution - Missense 1:56704020-56704020 + TCGA-13-0904-01 COSM86487 c.219T>A p.H73Q Substitution - Missense 1:56674505-56674505 + CN-AML-NR-08-Dx COSM5425687 c.1399T>C p.L467L Substitution - coding silent 1:56706197-56706197 + TCGA-BR-6452-01 COSM4009048 c.546T>C p.P182P Substitution - coding silent 1:56693835-56693835 + CSCC-16-T COSM4526853 c.1423G>A p.E475K Substitution - Missense 1:56707477-56707477 + ESO-191 COSM1263043 c.214C>T p.R72C Substitution - Missense 1:56674500-56674500 + BCM321T COSM4955229 c.1285G>T p.E429* Substitution - Nonsense 1:56704467-56704467 + TCGA-B6-A0IJ-01 COSM426504 c.476G>T p.G159V Substitution - Missense 1:56693765-56693765 + LP6005935-DNA_A03 COSM5032550 c.187C>T p.R63* Substitution - Nonsense 1:56674473-56674473 + HCC2998 COSM911067 c.262G>T p.D88Y Substitution - Missense 1:56691419-56691419 + SW1463 COSM2194726 c.1556C>T p.S519F Substitution - Missense 1:56707610-56707610 + TCGA-EB-A431-01 COSM3491086 c.246G>A p.V82V Substitution - coding silent 1:56691403-56691403 + S02248 COSM5679347 c.1259A>T p.Y420F Substitution - Missense 1:56704441-56704441 + TCGA-D9-A6EC-06 COSM1263042 c.214C>T p.R72C Substitution - Missense 1:56674500-56674500 + T3724 COSM4717655 c.1656T>C p.R552R Substitution - coding silent 1:56707710-56707710 + TCGA-EE-A3J7-06 COSM3491119 c.1325G>A p.R442K Substitution - Missense 1:56706123-56706123 + OSCC-GB_00410111 COSM3711847 c.897A>G p.K299K Substitution - coding silent 1:56704079-56704079 + TCGA-D1-A17Q-01 COSM911078 c.992G>A p.R331Q Substitution - Missense 1:56704174-56704174 + TCGA-GN-A266-06 COSM3491117 c.1135A>T p.K379* Substitution - Nonsense 1:56704317-56704317 + TCGA-EE-A183-06 COSM3491119 c.1325G>A p.R442K Substitution - Missense 1:56706123-56706123 + SW1463 COSM2194725 c.1556C>T p.S519F Substitution - Missense 1:56707610-56707610 + CHEWS004 COSM4577465 c.1494A>G p.P498P Substitution - coding silent 1:56707548-56707548 + TCGA-A8-A0A6-01 COSM3805633 c.1022A>C p.Y341S Substitution - Missense 1:56704204-56704204 + PT36 COSM1263043 c.214C>T p.R72C Substitution - Missense 1:56674500-56674500 + TCGA-ER-A19A-06 COSM3491127 c.1538C>T p.S513F Substitution - Missense 1:56707592-56707592 + TCGA-BF-A1Q0-01 COSM3491094 c.636C>T p.L212L Substitution - coding silent 1:56696007-56696007 + TCGA-BT-A2LB-01 COSM1738569 c.716G>A p.R239H Substitution - Missense 1:56696087-56696087 + TCGA-AA-3492-01 COSM1239934 c.264delT p.F90fs*3 Deletion - Frameshift 1:56691421-56691421 + TCGA-EE-A2M5-06 COSM3491098 c.788G>A p.R263K Substitution - Missense 1:56696159-56696159 + CHOL12 COSM1744176 c.1326A>C p.R442S Substitution - Missense 1:56706124-56706124 + B83-Tumor COSM1748524 c.871G>A p.E291K Substitution - Missense 1:56704053-56704053 + DLD1 COSM2194689 c.950A>G p.Q317R Substitution - Missense 1:56704132-56704132 + 2951_CLM COSM681676 c.215G>A p.R72H Substitution - Missense 1:56674501-56674501 + HCC2998 COSM911067 c.262G>T p.D88Y Substitution - Missense 1:56691419-56691419 + TCGA-EB-A431-01 COSM3491085 c.246G>A p.V82V Substitution - coding silent 1:56691403-56691403 + DLD1 COSM2194688 c.950A>G p.Q317R Substitution - Missense 1:56704132-56704132 + B83-Tumor COSM1748525 c.871G>A p.E291K Substitution - Missense 1:56704053-56704053 + TCGA-18-3412-01 COSM681676 c.215G>A p.R72H Substitution - Missense 1:56674501-56674501 + TCGA-AA-3837-01 COSM271686 c.1597G>T p.G533C Substitution - Missense 1:56707651-56707651 + TCGA-EE-A2GL-06 COSM3491126 c.1493C>T p.P498L Substitution - Missense 1:56707547-56707547 + TCGA-BR-6852-01 COSM4009045 c.350G>T p.R117M Substitution - Missense 1:56692377-56692377 + HCT15 COSM2194689 c.950A>G p.Q317R Substitution - Missense 1:56704132-56704132 + TARGET-30-PARGKK COSM1287379 c.97G>T p.G33* Substitution - Nonsense 1:56674383-56674383 + ESO-859 COSM1239935 c.1131C>T p.S377S Substitution - coding silent 1:56704313-56704313 + SNUH_G26_S1 COSM3997606 c.351G>A p.R117R Substitution - coding silent 1:56692378-56692378 + CN-AML-08-T COSM5425686 c.1399T>C p.L467L Substitution - coding silent 1:56706197-56706197 + TCGA-DG-A2KH-01 COSM4851281 c.1591C>T p.R531C Substitution - Missense 1:56707645-56707645 + TCGA-37-4135-01 COSM681668 c.1445G>C p.G482A Substitution - Missense 1:56707499-56707499 + TCGA-AZ-4315-01 COSM1343617 c.1373A>G p.Y458C Substitution - Missense 1:56706171-56706171 + TCGA-85-6561-01 COSM1646201 c.1262G>T p.R421L Substitution - Missense 1:56704444-56704444 + CN-AML-08-T COSM5425687 c.1399T>C p.L467L Substitution - coding silent 1:56706197-56706197 + C086 COSM5537594 c.510G>A p.L170L Substitution - coding silent 1:56693799-56693799 + 22T COSM107875 c.715C>T p.R239C Substitution - Missense 1:56696086-56696086 + Pat_06_A COSM5847046 c.1261C>T p.R421* Substitution - Nonsense 1:56704443-56704443 + YUFIT COSM192565 c.1544C>T p.S515F Substitution - Missense 1:56707598-56707598 + 41T COSM3711848 c.897A>G p.K299K Substitution - coding silent 1:56704079-56704079 + T3724 COSM4717654 c.1656T>C p.R552R Substitution - coding silent 1:56707710-56707710 + HA_N88_14 COSM5967054 c.1132C>G p.P378A Substitution - Missense 1:56704314-56704314 + 4400_T COSM3865863 c.767G>A p.R256Q Substitution - Missense 1:56696138-56696138 + LIM1899 COSM4640013 c.1229G>A p.S410N Substitution - Missense 1:56704411-56704411 + TCGA-F5-6814-01 COSM3419338 c.1616T>G p.F539C Substitution - Missense 1:56707670-56707670 + TCGA-AA-A00N-01 COSM276896 c.136A>C p.I46L Substitution - Missense 1:56674422-56674422 + RKO COSM2194651 c.223C>T p.H75Y Substitution - Missense 1:56674509-56674509 + TCGA-AS-3778-01 COSM1492120 c.95-2A>T p.? Unknown 1:56674379-56674379 + TCGA-G4-6304-01 COSM1343622 c.1527C>T p.S509S Substitution - coding silent 1:56707581-56707581 + 40M COSM5586313 c.1621G>A p.E541K Substitution - Missense 1:56707675-56707675 + NCI-H23 COSM1196450 c.1107G>T p.R369S Substitution - Missense 1:56704289-56704289 + TCGA-21-5787-01 COSM681671 c.523G>C p.G175R Substitution - Missense 1:56693812-56693812 + TCGA-BR-8680-01 COSM4009052 c.1072C>T p.H358Y Substitution - Missense 1:56704254-56704254 + Pat_06_B COSM5847045 c.499G>T p.G167C Substitution - Missense 1:56693788-56693788 + 1191-01-02TD COSM5417850 c.352C>T p.R118W Substitution - Missense 1:56692379-56692379 + BCM321T COSM4955228 c.1285G>T p.E429* Substitution - Nonsense 1:56704467-56704467 + UM-SCC-17B COSM4598326 c.271A>G p.M91V Substitution - Missense 1:56691428-56691428 + TCGA-D1-A103-01 COSM911065 c.237-1G>T p.? Unknown 1:56691393-56691393 + TCGA-EE-A2MK-06 COSM3491122 c.1353G>A p.V451V Substitution - coding silent 1:56706151-56706151 + AOCS-119-3-9 COSM3944194 c.1249G>T p.A417S Substitution - Missense 1:56704431-56704431 + CSCC-32-T COSM4451105 c.1063A>G p.S355G Substitution - Missense 1:56704245-56704245 + T1154 COSM1162340 c.523G>A p.G175R Substitution - Missense 1:56693812-56693812 + RKO COSM2194650 c.223C>T p.H75Y Substitution - Missense 1:56674509-56674509 + T3535 COSM4717651 c.784_785delAT p.I262fs*4 Deletion - Frameshift 1:56696155-56696156 + TCGA-AZ-4315-01 COSM1343616 c.1373A>G p.Y458C Substitution - Missense 1:56706171-56706171 + PD1398a COSM20524 c.1220G>A p.R407Q Substitution - Missense 1:56704402-56704402 + TCGA-EE-A2MK-06 COSM3491121 c.1353G>A p.V451V Substitution - coding silent 1:56706151-56706151 + TCGA-CM-6674-01 COSM1343625 c.1542_1543delCT p.L516fs*25 Deletion - Frameshift 1:56707596-56707597 + AOCS-122-1-4 COSM3944192 c.290C>T p.S97F Substitution - Missense 1:56691447-56691447 + Pat_76_B COSM5847043 c.482C>T p.S161F Substitution - Missense 1:56693771-56693771 + CSCC-60-T COSM911069 c.474C>T p.F158F Substitution - coding silent 1:56692501-56692501 + T3535 COSM4717650 c.784_785delAT p.I262fs*4 Deletion - Frameshift 1:56696155-56696156 + ESO-191 COSM1263042 c.214C>T p.R72C Substitution - Missense 1:56674500-56674500 + TCGA-IR-A3LH-01 COSM4832556 c.777C>G p.I259M Substitution - Missense 1:56696148-56696148 + H23 COSM1196450 c.1107G>T p.R369S Substitution - Missense 1:56704289-56704289 + TCGA-AG-A025-01 COSM265356 c.724G>A p.A242T Substitution - Missense 1:56696095-56696095 + CSCC-35-T COSM4526989 c.1432G>A p.E478K Substitution - Missense 1:56707486-56707486 + TCGA-EK-A2RC-01 COSM4848647 c.346G>A p.A116T Substitution - Missense 1:56692373-56692373 + TCGA-EE-A2A0-06 COSM396493 c.1611G>A p.M537I Substitution - Missense 1:56707665-56707665 + ESCC_11 COSM5624080 c.926A>G p.N309S Substitution - Missense 1:56704108-56704108 + Pat_76_B COSM5847042 c.482C>T p.S161F Substitution - Missense 1:56693771-56693771 + ESO-859 COSM1239934 c.264delT p.F90fs*3 Deletion - Frameshift 1:56691421-56691421 + TCGA-CC-5260-01 COSM4937434 c.663G>A p.T221T Substitution - coding silent 1:56696034-56696034 + PD4129a COSM163722 c.1507G>C p.D503H Substitution - Missense 1:56707561-56707561 + PA086 COSM1162339 c.523G>A p.G175R Substitution - Missense 1:56693812-56693812 + TCGA-AA-A010-01 COSM284245 c.522C>T p.C174C Substitution - coding silent 1:56693811-56693811 + TCGA-20-0991-01 COSM72288 c.1516A>G p.T506A Substitution - Missense 1:56707570-56707570 + MEL-Ma-Mel-48 COSM1167710 c.1198delG p.A400fs*24 Deletion - Frameshift 1:56704380-56704380 + 8061109 COSM2194726 c.1556C>T p.S519F Substitution - Missense 1:56707610-56707610 + ESCC-148T COSM3934786 c.231C>G p.I77M Substitution - Missense 1:56674517-56674517 + TCGA-BR-A4QL-01 COSM4009050 c.825C>T p.Y275Y Substitution - coding silent 1:56704007-56704007 + TCGA-EE-A20C-06 COSM107875 c.715C>T p.R239C Substitution - Missense 1:56696086-56696086 + 2474085 COSM911069 c.474C>T p.F158F Substitution - coding silent 1:56692501-56692501 + TCGA-CD-8526-01 COSM4009043 c.124G>C p.V42L Substitution - Missense 1:56674410-56674410 + Au3 COSM5582236 c.1078C>T p.P360S Substitution - Missense 1:56704260-56704260 + 41T COSM3711847 c.897A>G p.K299K Substitution - coding silent 1:56704079-56704079 + ESCC-148T COSM3934787 c.231C>G p.I77M Substitution - Missense 1:56674517-56674517 + TCGA-BF-A1Q0-01 COSM3491093 c.636C>T p.L212L Substitution - coding silent 1:56696007-56696007 + TCGA-BS-A0UF-01 COSM911076 c.931T>G p.L311V Substitution - Missense 1:56704113-56704113 + S00944 COSM317913 c.902A>T p.E301V Substitution - Missense 1:56704084-56704084 + TCGA-61-1740-01 COSM1320977 c.510G>C p.L170L Substitution - coding silent 1:56693799-56693799 + TCGA-EE-A2MR-06 COSM3491105 c.901G>A p.E301K Substitution - Missense 1:56704083-56704083 + TCGA-FW-A3R5-06 COSM3865860 c.703G>A p.E235K Substitution - Missense 1:56696074-56696074 + TCGA-AP-A056-01 COSM911082 c.1348T>C p.Y450H Substitution - Missense 1:56706146-56706146 + TCGA-FW-A3R5-06 COSM3491105 c.901G>A p.E301K Substitution - Missense 1:56704083-56704083 + TCGA-EE-A2GL-06 COSM3491109 c.1056G>A p.M352I Substitution - Missense 1:56704238-56704238 + 2474085 COSM5880257 c.789-5C>T p.? Unknown 1:56703966-56703966 + Pat_46_B COSM5847041 c.220C>T p.P74S Substitution - Missense 1:56674506-56674506 + TCGA-EB-A5SG-06 COSM3865863 c.767G>A p.R256Q Substitution - Missense 1:56696138-56696138 + YUROG COSM5381291 c.280G>A p.E94K Substitution - Missense 1:56691437-56691437 + HCC174T COSM3705945 c.1272G>A p.K424K Substitution - coding silent 1:56704454-56704454 + T2269 COSM4717648 c.719C>A p.S240Y Substitution - Missense 1:56696090-56696090 + Pat_76_A COSM5847042 c.482C>T p.S161F Substitution - Missense 1:56693771-56693771 + HT115 COSM2194667 c.617C>T p.A206V Substitution - Missense 1:56695988-56695988 + Au3 COSM5582237 c.1078C>T p.P360S Substitution - Missense 1:56704260-56704260 + TCGA-AA-A00A-01 COSM273748 c.1613_1614insT p.E541fs*1 Insertion - Frameshift 1:56707667-56707668 + TCGA-D1-A17Q-01 COSM911079 c.992G>A p.R331Q Substitution - Missense 1:56704174-56704174 + SK01600_M COSM1600268 c.619C>T p.L207F Substitution - Missense 1:56695990-56695990 + LUAD-S01331 COSM396493 c.1611G>A p.M537I Substitution - Missense 1:56707665-56707665 + YUWAND COSM1687735 c.838G>A p.D280N Substitution - Missense 1:56704020-56704020 + TCGA-A8-A0A6-01 COSM3805634 c.1022A>C p.Y341S Substitution - Missense 1:56704204-56704204 + TCGA-G4-6304-01 COSM1343623 c.1527C>T p.S509S Substitution - coding silent 1:56707581-56707581 + 35M COSM5582236 c.1078C>T p.P360S Substitution - Missense 1:56704260-56704260 + TCGA-FW-A3R5-06 COSM3865864 c.892G>A p.E298K Substitution - Missense 1:56704074-56704074 + C086 COSM5537591 c.512G>A p.R171K Substitution - Missense 1:56693801-56693801 + HCC2998 COSM911066 c.262G>T p.D88Y Substitution - Missense 1:56691419-56691419 + TCGA-BW-A5NO-01 COSM4933257 c.1608C>A p.T536T Substitution - coding silent 1:56707662-56707662 + HCC1187 COSM53555 c.1111C>A p.P371T Substitution - Missense 1:56704293-56704293 + TCGA-AP-A051-01 COSM1584640 c.158G>A p.R53H Substitution - Missense 1:56674444-56674444 + CHEWS004 COSM4577464 c.1494A>G p.P498P Substitution - coding silent 1:56707548-56707548 + TCGA-FW-A3R5-06 COSM3865858 c.685G>A p.G229S Substitution - Missense 1:56696056-56696056 + PT42 COSM5924858 c.476-1G>A p.? Unknown 1:56693764-56693764 + YUOMEGA COSM5381293 c.420G>A p.L140L Substitution - coding silent 1:56692447-56692447 + TCGA-CA-6717-01 COSM1343626 c.1568G>A p.S523N Substitution - Missense 1:56707622-56707622 + TCGA-D3-A51R-06 COSM3491112 c.1107G>A p.R369R Substitution - coding silent 1:56704289-56704289 + TCGA-GN-A266-06 COSM3491116 c.1135A>T p.K379* Substitution - Nonsense 1:56704317-56704317 + B83 COSM1748524 c.871G>A p.E291K Substitution - Missense 1:56704053-56704053 + S00944 COSM317912 c.902A>T p.E301V Substitution - Missense 1:56704084-56704084 + HCC174 COSM3705945 c.1272G>A p.K424K Substitution - coding silent 1:56704454-56704454 + ATL063 COSM5705501 c.1152G>T p.L384F Substitution - Missense 1:56704334-56704334 + YUGOE COSM1687736 c.1234_1235CC>TT p.P412L Substitution - Missense 1:56704416-56704417 + UM-SCC-17B COSM4598325 c.271A>G p.M91V Substitution - Missense 1:56691428-56691428 + ESO-165 COSM1263040 c.1397T>C p.L466P Substitution - Missense 1:56706195-56706195 + 40M COSM5586314 c.1621G>A p.E541K Substitution - Missense 1:56707675-56707675 + 470 COSM4437682 c.1270delA p.K424fs*9 Deletion - Frameshift 1:56704452-56704452 + T2269 COSM4717649 c.719C>A p.S240Y Substitution - Missense 1:56696090-56696090 + TCGA-IR-A3LH-01 COSM4832557 c.777C>G p.I259M Substitution - Missense 1:56696148-56696148 + SJOS010_M COSM3491115 c.1130G>A p.S377N Substitution - Missense 1:56704312-56704312 + C086 COSM5537592 c.512G>A p.R171K Substitution - Missense 1:56693801-56693801 + NCI-H23 COSM1667570 c.1107G>T p.R369S Substitution - Missense 1:56704289-56704289 + PA086 COSM1162340 c.523G>A p.G175R Substitution - Missense 1:56693812-56693812 + YULETA COSM3491114 c.1130G>A p.S377N Substitution - Missense 1:56704312-56704312 + TCGA-AA-3492-01 COSM1239933 c.264delT p.F90fs*3 Deletion - Frameshift 1:56691421-56691421 + TCGA-B5-A11E-01 COSM911069 c.474C>T p.F158F Substitution - coding silent 1:56692501-56692501 + TCGA-85-6561-01 COSM681669 c.1262G>T p.R421L Substitution - Missense 1:56704444-56704444 + TCGA-EE-A2GU-06 COSM3491095 c.690C>T p.V230V Substitution - coding silent 1:56696061-56696061 + C086 COSM5537593 c.510G>A p.L170L Substitution - coding silent 1:56693799-56693799 + TCGA-BR-6452-01 COSM4009047 c.366G>A p.Q122Q Substitution - coding silent 1:56692393-56692393 + 587376 COSM1221989 c.431A>T p.N144I Substitution - Missense 1:56692458-56692458 + 3101B7_032_T COSM2194698 c.1027G>T p.A343S Substitution - Missense 1:56704209-56704209 + TCGA-EE-A3AA-06 COSM911068 c.474C>T p.F158F Substitution - coding silent 1:56692501-56692501 + T2940 COSM1239933 c.264delT p.F90fs*3 Deletion - Frameshift 1:56691421-56691421 + TCGA-G9-6342-01 COSM107875 c.715C>T p.R239C Substitution - Missense 1:56696086-56696086 + LUAD-S01362 COSM346230 c.366G>T p.Q122H Substitution - Missense 1:56692393-56692393 + TCGA-D9-A1JW-06 COSM3491100 c.832C>T p.P278S Substitution - Missense 1:56704014-56704014 + YULETA COSM3491115 c.1130G>A p.S377N Substitution - Missense 1:56704312-56704312 + CSCC-16-T COSM4526852 c.1423G>A p.E475K Substitution - Missense 1:56707477-56707477 + TCGA-G2-A2EF-01 COSM95065 c.1381G>A p.D461N Substitution - Missense 1:56706179-56706179 + 2951_CLM COSM1646202 c.215G>A p.R72H Substitution - Missense 1:56674501-56674501 + ESCC-129T COSM3934789 c.346G>T p.A116S Substitution - Missense 1:56692373-56692373 + Z138 COSM1738570 c.716G>A p.R239H Substitution - Missense 1:56696087-56696087 + TCGA-EE-A2GU-06 COSM3491096 c.690C>T p.V230V Substitution - coding silent 1:56696061-56696061 + HCC2998 COSM911066 c.262G>T p.D88Y Substitution - Missense 1:56691419-56691419 + TCGA-61-1740-01 COSM1320978 c.510G>C p.L170L Substitution - coding silent 1:56693799-56693799 + Pat_06_A COSM5847047 c.1261C>T p.R421* Substitution - Nonsense 1:56704443-56704443 + ESO-165 COSM1263041 c.1397T>C p.L466P Substitution - Missense 1:56706195-56706195 + 102004 COSM95064 c.1064G>C p.S355T Substitution - Missense 1:56704246-56704246 + TCGA-DG-A2KH-01 COSM4851282 c.1591C>T p.R531C Substitution - Missense 1:56707645-56707645 + C0048T COSM4165263 c.299A>C p.E100A Substitution - Missense 1:56691456-56691456 + S02248 COSM5679348 c.1259A>T p.Y420F Substitution - Missense 1:56704441-56704441 + TCGA-DK-A3IL-01 COSM1296606 c.1099C>A p.P367T Substitution - Missense 1:56704281-56704281 + YUOTHO COSM5381295 c.941G>A p.G314D Substitution - Missense 1:56704123-56704123 + 2474085 COSM5880256 c.789-5C>T p.? Unknown 1:56703966-56703966 + TCGA-EE-A2MN-06 COSM3491083 c.150G>A p.Q50Q Substitution - coding silent 1:56674436-56674436 + TCGA-D1-A17B-01 COSM911070 c.475G>A p.G159R Substitution - Missense 1:56692502-56692502 + TCGA-BR-8589-01 COSM4009057 c.1501A>T p.S501C Substitution - Missense 1:56707555-56707555 + AOCS-134-3-9 COSM3944195 c.1450T>C p.S484P Substitution - Missense 1:56707504-56707504 + S00933 COSM314430 c.1293G>T p.K431N Substitution - Missense 1:56704475-56704475 + CN-AML-08-T COSM5425685 c.237A>G p.L79L Substitution - coding silent 1:56691394-56691394 + LUAD-S01362 COSM346229 c.366G>T p.Q122H Substitution - Missense 1:56692393-56692393 + HCC1187 COSM636 c.1111C>A p.P371T Substitution - Missense 1:56704293-56704293 + TCGA-FW-A3R5-06 COSM3491104 c.901G>A p.E301K Substitution - Missense 1:56704083-56704083 + TCGA-DA-A1I1-06 COSM3491115 c.1130G>A p.S377N Substitution - Missense 1:56704312-56704312 + 2474086 COSM911069 c.474C>T p.F158F Substitution - coding silent 1:56692501-56692501 + TARGET-30-PARGKK COSM1287380 c.97G>T p.G33* Substitution - Nonsense 1:56674383-56674383 + TCGA-GN-A26C-01 COSM3491090 c.502G>A p.E168K Substitution - Missense 1:56693791-56693791 + TCGA-BR-8589-01 COSM4009056 c.1501A>T p.S501C Substitution - Missense 1:56707555-56707555 + pfg020T COSM20524 c.1220G>A p.R407Q Substitution - Missense 1:56704402-56704402 + TCGA-A6-6780-01 COSM1239933 c.264delT p.F90fs*3 Deletion - Frameshift 1:56691421-56691421 + PTC-7C COSM4144106 c.111A>G p.L37L Substitution - coding silent 1:56674397-56674397 + sysucc-1213T COSM5764208 c.1027G>A p.A343T Substitution - Missense 1:56704209-56704209 + YUPAER COSM3491101 c.832C>T p.P278S Substitution - Missense 1:56704014-56704014 + AOCS-122-1-4 COSM3944191 c.290C>T p.S97F Substitution - Missense 1:56691447-56691447 + sysucc-1213T COSM5764207 c.1027G>A p.A343T Substitution - Missense 1:56704209-56704209 + TCGA-EE-A20C-06 COSM3491097 c.715C>T p.R239C Substitution - Missense 1:56696086-56696086 + HCC1187 COSM636 c.1111C>A p.P371T Substitution - Missense 1:56704293-56704293 + T3056 COSM4717653 c.842C>A p.P281H Substitution - Missense 1:56704024-56704024 + TCGA-AB-2978-03 COSM166749 c.679C>T p.R227* Substitution - Nonsense 1:56696050-56696050 + TCGA-EB-A5UL-06 COSM3491110 c.1100C>T p.P367L Substitution - Missense 1:56704282-56704282 + TCGA-EE-A2GL-06 COSM3491125 c.1493C>T p.P498L Substitution - Missense 1:56707547-56707547 + 3101B7_032_T COSM317914 c.1027G>T p.A343S Substitution - Missense 1:56704209-56704209 + TCGA-EB-A5UL-06 COSM3491111 c.1100C>T p.P367L Substitution - Missense 1:56704282-56704282 + 4400_T COSM3865862 c.767G>A p.R256Q Substitution - Missense 1:56696138-56696138 + TCGA-KK-A59V-01 COSM4878370 c.1592G>A p.R531H Substitution - Missense 1:56707646-56707646 + SNUH_G13_S1 COSM3997607 c.351G>A p.R117R Substitution - coding silent 1:56692378-56692378 + NB-1194 COSM1287381 c.1050T>G p.S350S Substitution - coding silent 1:56704232-56704232 + ESO-859 COSM1239936 c.1131C>T p.S377S Substitution - coding silent 1:56704313-56704313 + TCGA-20-0991-01 COSM72287 c.1516A>G p.T506A Substitution - Missense 1:56707570-56707570 + TCGA-AA-3837-01 COSM271687 c.1597G>T p.G533C Substitution - Missense 1:56707651-56707651 + SK01600_P COSM1600268 c.619C>T p.L207F Substitution - Missense 1:56695990-56695990 + CN-AML-NR-08-Dx COSM5425684 c.237A>G p.L79L Substitution - coding silent 1:56691394-56691394 + SNUH_G26_S1 COSM3997607 c.351G>A p.R117R Substitution - coding silent 1:56692378-56692378 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.437021;Hs.437035;Hs.437036;Hs.437037;Hs.437039 1p31 600497

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Synonymous p.I61I c.183A>C 1 57140142 HNSC A G Missense p.S523G c.1567A>G 1 57173294 BRCA A G Missense p.T221A c.661A>G 1 57161705 HNSC A G Missense p.T506A c.1516A>G 1 57173243 OV A G Synonymous p.E100E c.300A>G 1 57157130 LUAD A T Missense p.E301V c.902A>T 1 57169757 SCLC C A Missense p.A417D c.1250C>A 1 57170105 HNSC C A Missense p.P367T c.1099C>A 1 57169954 BLCA C A Missense p.P371T c.1111C>A 1 57169966 BRCA CC TT Missense p.R407* c.1218_1219delinsTT 1 57170073 CM C T 3-UTRSNV . c.1656+121C>T 1 57173504 CM CTGATGCATATGCTG - InFrameDeletion p.L245_L249delLMHML c.734_748delTGATGCATATGCTGC 1 57161777 BRCA C T Missense p.L466F c.1396C>T 1 57171867 CM C T Missense p.P177L c.530C>T 1 57159492 CM C T Missense p.P177S c.529C>T 1 57159491 CM C T Missense p.P278S c.832C>T 1 57169687 CM C T Missense p.P498L c.1493C>T 1 57173220 CM C T Missense p.R239C c.715C>T 1 57161759 CM C T Missense p.R439C c.1315C>T 1 57171786 CM C T Missense p.R72C c.214C>T 1 57140173 ESCA C T Missense p.S161F c.482C>T 1 57159444 CM C T Missense p.S282F c.845C>T 1 57169700 CM C T Missense p.S350F c.1049C>T 1 57169904 CM C T Missense p.S513F c.1538C>T 1 57173265 CM C T Missense p.T303I c.908C>T 1 57169763 BLCA C T Nonsense p.R138* c.412C>T 1 57158112 CM C T Nonsense p.R227* c.679C>T 1 57161723 AML C T Synonymous p.A343A c.1029C>T 1 57169884 CM C T Synonymous p.F158F c.474C>T 1 57158174 CM C T Synonymous p.L212L c.636C>T 1 57161680 CM C T Synonymous p.S377S c.1131C>T 1 57169986 ESCA C T Synonymous p.V230V c.690C>T 1 57161734 CM G A Missense p.A242T c.724G>A 1 57161768 COREAD G A Missense p.D289N c.865G>A 1 57169720 CM G A Missense p.D461N c.1381G>A 1 57171852 BLCA G A Missense p.D461N c.1381G>A 1 57171852 CM G A Missense p.E168K c.502G>A 1 57159464 CM G A Missense p.E298K c.892G>A 1 57169747 CM G A Missense p.M352I c.1056G>A 1 57169911 CM G A Missense p.M423I c.1269G>A 1 57170124 CM G A Missense p.M537I c.1611G>A 1 57173338 CM G A Missense p.R239H c.716G>A 1 57161760 BLCA G A Missense p.R256Q c.767G>A 1 57161811 CM G A Missense p.R263K c.788G>A 1 57161832 CM G A Missense p.R407Q c.1220G>A 1 57170075 STAD G A Missense p.R442K c.1325G>A 1 57171796 CM G A Missense p.R497K c.1490G>A 1 57173217 CM G A Missense p.R72H c.215G>A 1 57140174 LUSC G A Missense p.S377N c.1130G>A 1 57169985 CM G A Missense p.V287I c.859G>A 1 57169714 BRCA G A SpliceAcceptorSNV . c.237-1G>A 1 57157066 LUSC G A Synonymous p.Q409Q c.1227G>A 1 57170082 CM G A Synonymous p.Q50Q c.150G>A 1 57140109 CM G A Synonymous p.R331R c.993G>A 1 57169848 CM G A Synonymous p.V451V c.1353G>A 1 57171824 CM G C Missense p.D503H c.1507G>C 1 57173234 BRCA G C Missense p.G175R c.523G>C 1 57159485 LUSC G C Missense p.G482A c.1445G>C 1 57173172 LUSC G C Missense p.Q409H c.1227G>C 1 57170082 HNSC G - Frameshift p.A400Pfs*24 c.1198delG 1 57170053 CM G T Missense p.A343S c.1027G>T 1 57169882 SCLC G T Missense p.D271Y c.811G>T 1 57169666 BRCA G T Missense p.G159V c.476G>T 1 57159438 BRCA G T Missense p.G533C c.1597G>T 1 57173324 COREAD G T Missense p.K431N c.1293G>T 1 57170148 SCLC G T Missense p.R369M c.1106G>T 1 57169961 COREAD G T Missense p.R421L c.1262G>T 1 57170117 LUSC G T Nonsense p.G33* c.97G>T 1 57140056 NB T A Missense p.H73Q c.219T>A 1 57140178 OV T A Missense p.L546Q c.1637T>A 1 57173364 PRAD T C 3-UTRSNV . c.1656+6254T>C 1 57179637 MB T C Missense p.L466P c.1397T>C 1 57171868 ESCA T C Synonymous p.F90F c.270T>C 1 57157100 CM T C Synonymous p.T258T c.774T>C 1 57161818 CM T - Frameshift p.F90Lfs*3 c.270delT 1 57157094 ESCA T G Synonymous p.S350S c.1050T>G 1 57169905 NB - T IntronicInsertion . c.563+125dupT 1 57159646 ESCA - T Nonsense p.E541*fs*1 c.1620dupT 1 57173341 COREAD