Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 9 33290577 33290577 + Missense_Mutation SNP G G A TCGA-UY-A9PF-01A-11D-A38G-08 TCGA-UY-A9PF-10A-01D-A38J-08 g.chr9:33290577G>A c.7G>A c.(7-9)Gag>Aag p.E3K BLCA 9 33294813 33294813 + Missense_Mutation SNP G G C TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 g.chr9:33294813G>C c.421G>C c.(421-423)Gag>Cag p.E141Q BLCA 9 33313681 33313681 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 g.chr9:33313681C>T c.1478C>T c.(1477-1479)tCa>tTa p.S493L BLCA 9 33318788 33318788 + Missense_Mutation SNP G G A TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 g.chr9:33318788G>A c.1648G>A c.(1648-1650)Gat>Aat p.D550N BLCA 9 33318947 33318947 + Silent SNP C C T TCGA-XF-A9T5-01A-11D-A42E-08 TCGA-XF-A9T5-10A-01D-A42H-08 g.chr9:33318947C>T c.1728C>T c.(1726-1728)tgC>tgT p.C576C BLCA 9 33342807 33342807 + Missense_Mutation SNP G G A TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 g.chr9:33342807G>A c.2179G>A c.(2179-2181)Gaa>Aaa p.E727K BLCA 9 33351645 33351646 + Frame_Shift_Ins INS - - A TCGA-DK-A6AV-01A-12D-A30E-08 TCGA-DK-A6AV-10A-01D-A30H-08 g.chr9:33351645_33351646insA c.2512_2513insA c.(2512-2514)cagfs p.Q838fs BLCA 9 33354118 33354118 + Missense_Mutation SNP G G C TCGA-PQ-A6FI-01A-11D-A31L-08 TCGA-PQ-A6FI-10A-01D-A31J-08 g.chr9:33354118G>C c.2764G>C c.(2764-2766)Gac>Cac p.D922H BLCA 9 33366702 33366702 + Missense_Mutation SNP C C A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 g.chr9:33366702C>A c.3115C>A c.(3115-3117)Caa>Aaa p.Q1039K BRCA 9 33294960 33294960 + Missense_Mutation SNP T T C TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 g.chr9:33294960T>C c.568T>C c.(568-570)Tgt>Cgt p.C190R BRCA 9 33328583 33328583 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 g.chr9:33328583C>G c.1911C>G c.(1909-1911)ttC>ttG p.F637L BRCA 9 33344082 33344082 + Missense_Mutation SNP C C T TCGA-A7-A5ZV-01A-11D-A28B-09 TCGA-A7-A5ZV-10A-01D-A28E-09 g.chr9:33344082C>T c.2240C>T c.(2239-2241)aCc>aTc p.T747I BRCA 9 33351758 33351758 + Silent SNP A A C TCGA-A2-A0T5-01A-21D-A099-09 TCGA-A2-A0T5-10A-01D-A099-09 g.chr9:33351758A>C c.2625A>C c.(2623-2625)tcA>tcC p.S875S BRCA 9 33364082 33364082 + Missense_Mutation SNP G G T TCGA-D8-A1JM-01A-11D-A13L-09 TCGA-D8-A1JM-10A-01D-A188-09 g.chr9:33364082G>T c.2948G>T c.(2947-2949)aGt>aTt p.S983I CESC 9 33347041 33347041 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 g.chr9:33347041C>G c.2350C>G c.(2350-2352)Cat>Gat p.H784D CESC 9 33366700 33366700 + Missense_Mutation SNP C C T TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 g.chr9:33366700C>T c.3113C>T c.(3112-3114)gCc>gTc p.A1038V CESC 9 33366761 33366761 + Silent SNP C C T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 g.chr9:33366761C>T c.3174C>T c.(3172-3174)gtC>gtT p.V1058V COAD 9 33294462 33294462 + Nonsense_Mutation SNP G G T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr9:33294462G>T c.70G>T c.(70-72)Gag>Tag p.E24* COAD 9 33294616 33294616 + Missense_Mutation SNP C C T TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr9:33294616C>T c.224C>T c.(223-225)cCg>cTg p.P75L COAD 9 33294903 33294903 + Missense_Mutation SNP G G C TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr9:33294903G>C c.511G>C c.(511-513)Gca>Cca p.A171P COAD 9 33303192 33303192 + Missense_Mutation SNP G G A TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr9:33303192G>A c.1196G>A c.(1195-1197)gGc>gAc p.G399D COAD 9 33313741 33313741 + Missense_Mutation SNP A A T TCGA-AA-3542-01A-02W-0831-10 TCGA-AA-3542-10A-01W-0831-10 g.chr9:33313741A>T c.1538A>T c.(1537-1539)gAg>gTg p.E513V COAD 9 33319053 33319053 + Missense_Mutation SNP C C T TCGA-AA-A00E-01A-01W-A005-10 TCGA-AA-A00E-10A-01W-A005-10 g.chr9:33319053C>T c.1834C>T c.(1834-1836)Cgg>Tgg p.R612W COAD 9 33352713 33352713 + Nonsense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr9:33352713C>T c.2725C>T c.(2725-2727)Caa>Taa p.Q909* COAD 9 33364060 33364060 + Missense_Mutation SNP C C T TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr9:33364060C>T c.2926C>T c.(2926-2928)Cgt>Tgt p.R976C COADREAD 9 33294462 33294462 + Nonsense_Mutation SNP G G T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr9:33294462G>T c.70G>T c.(70-72)Gag>Tag p.E24* COADREAD 9 33294529 33294529 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr9:33294529G>T c.137G>T c.(136-138)aGa>aTa p.R46I COADREAD 9 33294616 33294616 + Missense_Mutation SNP C C T TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr9:33294616C>T c.224C>T c.(223-225)cCg>cTg p.P75L COADREAD 9 33294903 33294903 + Missense_Mutation SNP G G C TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr9:33294903G>C c.511G>C c.(511-513)Gca>Cca p.A171P COADREAD 9 33295406 33295406 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr9:33295406G>T c.1014G>T c.(1012-1014)aaG>aaT p.K338N COADREAD 9 33303192 33303192 + Missense_Mutation SNP G G A TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr9:33303192G>A c.1196G>A c.(1195-1197)gGc>gAc p.G399D COADREAD 9 33311154 33311154 + Missense_Mutation SNP C C A TCGA-AG-A032-01A-01W-A00E-09 TCGA-AG-A032-10A-01W-A00E-09 g.chr9:33311154C>A c.1427C>A c.(1426-1428)aCa>aAa p.T476K COADREAD 9 33313741 33313741 + Missense_Mutation SNP A A T TCGA-AA-3542-01A-02W-0831-10 TCGA-AA-3542-10A-01W-0831-10 g.chr9:33313741A>T c.1538A>T c.(1537-1539)gAg>gTg p.E513V COADREAD 9 33319053 33319053 + Missense_Mutation SNP C C T TCGA-AA-A00E-01A-01W-A005-10 TCGA-AA-A00E-10A-01W-A005-10 g.chr9:33319053C>T c.1834C>T c.(1834-1836)Cgg>Tgg p.R612W COADREAD 9 33352713 33352713 + Nonsense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr9:33352713C>T c.2725C>T c.(2725-2727)Caa>Taa p.Q909* COADREAD 9 33364060 33364060 + Missense_Mutation SNP C C T TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr9:33364060C>T c.2926C>T c.(2926-2928)Cgt>Tgt p.R976C ESCA 9 33295406 33295406 + Missense_Mutation SNP G G T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 g.chr9:33295406G>T c.1014G>T c.(1012-1014)aaG>aaT p.K338N ESCA 9 33311168 33311168 + Nonsense_Mutation SNP C C T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 g.chr9:33311168C>T c.1441C>T c.(1441-1443)Cga>Tga p.R481* ESCA 9 33364102 33364102 + Missense_Mutation SNP G G A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 g.chr9:33364102G>A c.2968G>A c.(2968-2970)Gcc>Acc p.A990T GBM 9 33294757 33294757 + Missense_Mutation SNP A A C TCGA-06-0184-01A-01D-1491-08 TCGA-06-0184-10B-01D-1491-08 g.chr9:33294757A>C c.365A>C c.(364-366)cAg>cCg p.Q122P GBM 9 33351731 33351731 + Silent SNP G G A TCGA-14-1823-01A-01W-0643-08 TCGA-14-1823-10A-01W-0644-08 g.chr9:33351731G>A c.2598G>A c.(2596-2598)ccG>ccA p.P866P GBMLGG 9 33294757 33294757 + Missense_Mutation SNP A A C TCGA-06-0184-01A-01D-1491-08 TCGA-06-0184-10B-01D-1491-08 g.chr9:33294757A>C c.365A>C c.(364-366)cAg>cCg p.Q122P GBMLGG 9 33295380 33295380 + Nonsense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr9:33295380C>T c.988C>T c.(988-990)Cga>Tga p.R330* GBMLGG 9 33311160 33311160 + Missense_Mutation SNP A A G TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 g.chr9:33311160A>G c.1433A>G c.(1432-1434)gAa>gGa p.E478G GBMLGG 9 33351731 33351731 + Silent SNP G G A TCGA-14-1823-01A-01W-0643-08 TCGA-14-1823-10A-01W-0644-08 g.chr9:33351731G>A c.2598G>A c.(2596-2598)ccG>ccA p.P866P HNSC 9 33294473 33294473 + Missense_Mutation SNP T T A TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 g.chr9:33294473T>A c.81T>A c.(79-81)aaT>aaA p.N27K HNSC 9 33366762 33366762 + Missense_Mutation SNP A A T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 g.chr9:33366762A>T c.3175A>T c.(3175-3177)Act>Tct p.T1059S KIPAN 9 33295177 33295177 + Missense_Mutation SNP C C T TCGA-SX-A7SP-01A-11D-A34Z-10 TCGA-SX-A7SP-10A-01D-A34Z-10 g.chr9:33295177C>T c.785C>T c.(784-786)cCa>cTa p.P262L KIPAN 9 33307212 33307212 + Missense_Mutation SNP T T C TCGA-A4-8310-01A-11D-2396-08 TCGA-A4-8310-10A-01D-2396-08 g.chr9:33307212T>C c.1291T>C c.(1291-1293)Tgg>Cgg p.W431R KIPAN 9 33319097 33319097 + Silent SNP C C T TCGA-B1-A47N-01A-11D-A25F-10 TCGA-B1-A47N-10A-01D-A25F-10 g.chr9:33319097C>T c.1878C>T c.(1876-1878)tgC>tgT p.C626C KIPAN 9 33319104 33319106 + In_Frame_Del DEL CCT CCT - TCGA-EV-5903-01A-11D-1589-08 TCGA-EV-5903-10A-01D-1589-08 g.chr9:33319104_33319106delCCT c.1885_1887delCCT c.(1885-1887)cctdel p.P629del KIPAN 9 33351750 33351750 + Missense_Mutation SNP A A G TCGA-B0-5695-01A-11D-1534-10 TCGA-B0-5695-11A-01D-1534-10 g.chr9:33351750A>G c.2617A>G c.(2617-2619)Acc>Gcc p.T873A KIRC 9 33351750 33351750 + Missense_Mutation SNP A A G TCGA-B0-5695-01A-11D-1534-10 TCGA-B0-5695-11A-01D-1534-10 g.chr9:33351750A>G c.2617A>G c.(2617-2619)Acc>Gcc p.T873A KIRP 9 33295177 33295177 + Missense_Mutation SNP C C T TCGA-SX-A7SP-01A-11D-A34Z-10 TCGA-SX-A7SP-10A-01D-A34Z-10 g.chr9:33295177C>T c.785C>T c.(784-786)cCa>cTa p.P262L KIRP 9 33307212 33307212 + Missense_Mutation SNP T T C TCGA-A4-8310-01A-11D-2396-08 TCGA-A4-8310-10A-01D-2396-08 g.chr9:33307212T>C c.1291T>C c.(1291-1293)Tgg>Cgg p.W431R KIRP 9 33319097 33319097 + Silent SNP C C T TCGA-B1-A47N-01A-11D-A25F-10 TCGA-B1-A47N-10A-01D-A25F-10 g.chr9:33319097C>T c.1878C>T c.(1876-1878)tgC>tgT p.C626C KIRP 9 33319104 33319106 + In_Frame_Del DEL CCT CCT - TCGA-EV-5903-01A-11D-1589-08 TCGA-EV-5903-10A-01D-1589-08 g.chr9:33319104_33319106delCCT c.1885_1887delCCT c.(1885-1887)cctdel p.P629del LGG 9 33295380 33295380 + Nonsense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr9:33295380C>T c.988C>T c.(988-990)Cga>Tga p.R330* LGG 9 33311160 33311160 + Missense_Mutation SNP A A G TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 g.chr9:33311160A>G c.1433A>G c.(1432-1434)gAa>gGa p.E478G LIHC 9 33295194 33295194 + Nonsense_Mutation SNP C C T TCGA-G3-A5SI-01A-31D-A27I-10 TCGA-G3-A5SI-10A-01D-A27I-10 g.chr9:33295194C>T c.802C>T c.(802-804)Cga>Tga p.R268* LIHC 9 33295418 33295418 + Silent SNP G G A TCGA-DD-A39Y-01A-11D-A20W-10 TCGA-DD-A39Y-11A-11D-A20W-10 g.chr9:33295418G>A c.1026G>A c.(1024-1026)acG>acA p.T342T LIHC 9 33307273 33307273 + Missense_Mutation SNP A A G TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chr9:33307273A>G c.1352A>G c.(1351-1353)cAg>cGg p.Q451R LIHC 9 33351736 33351736 + Missense_Mutation SNP T T C TCGA-CC-A3MB-01A-11D-A20W-10 TCGA-CC-A3MB-10A-01D-A20W-10 g.chr9:33351736T>C c.2603T>C c.(2602-2604)aTg>aCg p.M868T LIHC 9 33364038 33364038 + Missense_Mutation SNP G G T TCGA-EP-A2KA-01A-11D-A183-10 TCGA-EP-A2KA-10A-01D-A183-10 g.chr9:33364038G>T c.2904G>T c.(2902-2904)gaG>gaT p.E968D LUAD 9 33301376 33301376 + Missense_Mutation SNP G G C TCGA-55-8092-01A-11D-2238-08 TCGA-55-8092-10A-01D-2238-08 g.chr9:33301376G>C c.1149G>C c.(1147-1149)ttG>ttC p.L383F LUAD 9 33318727 33318727 + Splice_Site SNP A A G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 g.chr9:33318727A>G c.e8-1 LUAD 9 33318740 33318740 + Missense_Mutation SNP G G A TCGA-86-A4JF-01A-11D-A24P-08 TCGA-86-A4JF-10A-01D-A24P-08 g.chr9:33318740G>A c.1600G>A c.(1600-1602)Ggc>Agc p.G534S LUAD 9 33364014 33364014 + Silent SNP A A G TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 g.chr9:33364014A>G c.2880A>G c.(2878-2880)ttA>ttG p.L960L LUAD 9 33364755 33364755 + Missense_Mutation SNP G G A TCGA-95-7039-01A-11D-1945-08 TCGA-95-7039-10A-01D-1946-08 g.chr9:33364755G>A c.3022G>A c.(3022-3024)Gtg>Atg p.V1008M LUAD 9 33369972 33369972 + Missense_Mutation SNP A A G TCGA-05-4434-01A-01D-1265-08 TCGA-05-4434-10A-01D-1265-08 g.chr9:33369972A>G c.3359A>G c.(3358-3360)gAc>gGc p.D1120G LUSC 9 33318767 33318767 + Nonsense_Mutation SNP G G T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 g.chr9:33318767G>T c.1627G>T c.(1627-1629)Gga>Tga p.G543* LUSC 9 33344173 33344173 + Missense_Mutation SNP G G T TCGA-37-5819-01A-01D-1632-08 TCGA-37-5819-10A-01D-1632-08 g.chr9:33344173G>T c.2331G>T c.(2329-2331)gaG>gaT p.E777D OV 9 33295023 33295023 + Missense_Mutation SNP G G T TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 g.chr9:33295023G>T c.631G>T c.(631-633)Gtg>Ttg p.V211L OV 9 33313762 33313762 + Missense_Mutation SNP G G A TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 g.chr9:33313762G>A c.1559G>A c.(1558-1560)tGc>tAc p.C520Y PRAD 9 33313652 33313652 + Splice_Site SNP G G T TCGA-KC-A7FD-01A-11D-A33T-08 TCGA-KC-A7FD-10A-01D-A33W-08 g.chr9:33313652G>T c.1449G>T c.(1447-1449)agG>agT p.R483S PRAD 9 33313653 33313653 + Splice_Site SNP C C T TCGA-KC-A7FD-01A-11D-A33T-08 TCGA-KC-A7FD-10A-01D-A33W-08 g.chr9:33313653C>T c.1450C>T c.(1450-1452)Cac>Tac p.H484Y READ 9 33294529 33294529 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr9:33294529G>T c.137G>T c.(136-138)aGa>aTa p.R46I READ 9 33295406 33295406 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr9:33295406G>T c.1014G>T c.(1012-1014)aaG>aaT p.K338N READ 9 33311154 33311154 + Missense_Mutation SNP C C A TCGA-AG-A032-01A-01W-A00E-09 TCGA-AG-A032-10A-01W-A00E-09 g.chr9:33311154C>A c.1427C>A c.(1426-1428)aCa>aAa p.T476K SKCM 9 33294597 33294597 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr9:33294597C>T c.205C>T c.(205-207)Cat>Tat p.H69Y SKCM 9 33295248 33295248 + Missense_Mutation SNP C C T TCGA-EE-A2M5-06A-12D-A197-08 TCGA-EE-A2M5-10A-01D-A199-08 g.chr9:33295248C>T c.856C>T c.(856-858)Ctc>Ttc p.L286F SKCM 9 33295316 33295330 + In_Frame_Del DEL GAGGGTTGACCAAGA GAGGGTTGACCAAGA - TCGA-EE-A29T-06A-11D-A197-08 TCGA-EE-A29T-10A-01D-A199-08 g.chr9:33295316_33295330delGAGGGTTGACCAAGA c.924_938delGAGGGTTGACCAAGA c.(922-939)aggagggttgaccaagag>agg p.RVDQE309del SKCM 9 33311115 33311115 + Missense_Mutation SNP C C T TCGA-EE-A2A2-06A-11D-A196-08 TCGA-EE-A2A2-10A-01D-A198-08 g.chr9:33311115C>T c.1388C>T c.(1387-1389)cCa>cTa p.P463L SKCM 9 33311157 33311157 + Missense_Mutation SNP G G C TCGA-EE-A183-06A-11D-A196-08 TCGA-EE-A183-10A-01D-A198-08 g.chr9:33311157G>C c.1430G>C c.(1429-1431)tGt>tCt p.C477S SKCM 9 33328583 33328583 + Silent SNP C C T TCGA-EE-A2M7-06A-11D-A197-08 TCGA-EE-A2M7-10A-01D-A199-08 g.chr9:33328583C>T c.1911C>T c.(1909-1911)ttC>ttT p.F637F SKCM 9 33342786 33342786 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr9:33342786C>T c.2158C>T c.(2158-2160)Cgt>Tgt p.R720C SKCM 9 33344120 33344120 + Missense_Mutation SNP C C T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 g.chr9:33344120C>T c.2278C>T c.(2278-2280)Ccc>Tcc p.P760S SKCM 9 33347041 33347041 + Missense_Mutation SNP C C T TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr9:33347041C>T c.2350C>T c.(2350-2352)Cat>Tat p.H784Y SKCM 9 33351567 33351567 + Missense_Mutation SNP A A C TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr9:33351567A>C c.2434A>C c.(2434-2436)Aac>Cac p.N812H SKCM 9 33352709 33352709 + Silent SNP T T C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr9:33352709T>C c.2721T>C c.(2719-2721)acT>acC p.T907T SKCM 9 33354888 33354888 + Silent SNP A A G TCGA-DA-A3F5-06A-11D-A20D-08 TCGA-DA-A3F5-10A-01D-A20D-08 g.chr9:33354888A>G c.2871A>G c.(2869-2871)aaA>aaG p.K957K SKCM 9 33364754 33364754 + Silent SNP C C T TCGA-FS-A1Z3-06A-11D-A197-08 TCGA-FS-A1Z3-10A-01D-A199-08 g.chr9:33364754C>T c.3021C>T c.(3019-3021)ctC>ctT p.L1007L SKCM 9 33366686 33366686 + Silent SNP C C T TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr9:33366686C>T c.3099C>T c.(3097-3099)atC>atT p.I1033I SKCM 9 33366735 33366736 + Frame_Shift_Del DEL AG AG - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 g.chr9:33366735_33366736delAG c.3148_3149delAG c.(3148-3150)agtfs p.S1050fs

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 9 33294742 33294742 single base substitution G A missense_variant R117K 350G>A BLCA-CN 9 33342846 33342846 single base substitution C A exon_variant BLCA-CN 9 33342846 33342846 single base substitution C A missense_variant Q740K 2218C>A BLCA-US 9 33313681 33313681 single base substitution C T missense_variant S493L 1478C>T BLCA-US 9 33342807 33342807 single base substitution G A missense_variant E727K 2179G>A BLCA-US 9 33342807 33342807 single base substitution G A upstream_gene_variant BLCA-US 9 33366702 33366702 single base substitution C A downstream_gene_variant BLCA-US 9 33366702 33366702 single base substitution C A exon_variant BLCA-US 9 33366702 33366702 single base substitution C A missense_variant Q1039K 3115C>A BOCA-FR 9 33294991 33294991 single base substitution C T missense_variant P200L 599C>T BOCA-FR 9 33301484 33301484 single base substitution C A intron_variant BOCA-FR 9 33370559 33370559 single base substitution A T 3_prime_UTR_variant BOCA-FR 9 33370559 33370559 single base substitution A T downstream_gene_variant BRCA-EU 9 33286150 33286150 single base substitution C A upstream_gene_variant BRCA-EU 9 33288765 33288769 deletion of <=200bp CTGGC - upstream_gene_variant BRCA-EU 9 33289356 33289356 single base substitution C T upstream_gene_variant BRCA-EU 9 33290362 33290362 single base substitution C G upstream_gene_variant BRCA-EU 9 33291178 33291178 single base substitution G C intron_variant BRCA-EU 9 33293679 33293679 single base substitution G C intron_variant BRCA-EU 9 33294767 33294767 single base substitution T A synonymous_variant A125A 375T>A BRCA-EU 9 33295069 33295069 single base substitution G C missense_variant G226A 677G>C BRCA-EU 9 33296723 33296723 deletion of <=200bp C - intron_variant BRCA-EU 9 33298781 33298781 single base substitution C T intron_variant BRCA-EU 9 33299530 33299530 deletion of <=200bp A - intron_variant BRCA-EU 9 33299845 33299845 single base substitution C T intron_variant BRCA-EU 9 33300096 33300096 single base substitution G C intron_variant BRCA-EU 9 33303347 33303347 single base substitution G A intron_variant BRCA-EU 9 33304007 33304007 single base substitution G C intron_variant BRCA-EU 9 33304687 33304687 single base substitution G T intron_variant BRCA-EU 9 33304830 33304830 single base substitution G A intron_variant BRCA-EU 9 33305902 33305902 single base substitution G A intron_variant BRCA-EU 9 33306586 33306586 single base substitution G C intron_variant BRCA-EU 9 33307288 33307288 single base substitution C T missense_variant S456F 1367C>T BRCA-EU 9 33308886 33308886 single base substitution G T intron_variant BRCA-EU 9 33309214 33309214 single base substitution G A intron_variant BRCA-EU 9 33310437 33310437 single base substitution C T intron_variant BRCA-EU 9 33311874 33311874 single base substitution C G intron_variant BRCA-EU 9 33312429 33312429 single base substitution C G intron_variant BRCA-EU 9 33314837 33314837 single base substitution T C intron_variant BRCA-EU 9 33314837 33314837 single base substitution T C upstream_gene_variant BRCA-EU 9 33316058 33316058 single base substitution C G intron_variant BRCA-EU 9 33316058 33316058 single base substitution C G upstream_gene_variant BRCA-EU 9 33316776 33316776 single base substitution C T intron_variant BRCA-EU 9 33316776 33316776 single base substitution C T upstream_gene_variant BRCA-EU 9 33316859 33316859 single base substitution C G intron_variant BRCA-EU 9 33316859 33316859 single base substitution C G upstream_gene_variant BRCA-EU 9 33318284 33318284 single base substitution G A intron_variant BRCA-EU 9 33318284 33318284 single base substitution G A upstream_gene_variant BRCA-EU 9 33318640 33318640 single base substitution G A intron_variant BRCA-EU 9 33318640 33318640 single base substitution G A upstream_gene_variant BRCA-EU 9 33318872 33318872 single base substitution A T intron_variant BRCA-EU 9 33318872 33318872 single base substitution A T upstream_gene_variant BRCA-EU 9 33319339 33319339 single base substitution T G intron_variant BRCA-EU 9 33319397 33319397 single base substitution C G intron_variant BRCA-EU 9 33320971 33320971 single base substitution A T intron_variant BRCA-EU 9 33322440 33322440 single base substitution C G intron_variant BRCA-EU 9 33323727 33323727 single base substitution G C intron_variant BRCA-EU 9 33325703 33325703 single base substitution C A intron_variant BRCA-EU 9 33325835 33325835 single base substitution C G intron_variant BRCA-EU 9 33326165 33326165 single base substitution C G intron_variant BRCA-EU 9 33326247 33326247 single base substitution C G intron_variant BRCA-EU 9 33326501 33326501 single base substitution G A intron_variant BRCA-EU 9 33327282 33327282 single base substitution C G intron_variant BRCA-EU 9 33329288 33329288 single base substitution T G intron_variant BRCA-EU 9 33330627 33330627 single base substitution T G intron_variant BRCA-EU 9 33331127 33331127 single base substitution G T intron_variant BRCA-EU 9 33332013 33332013 single base substitution T C intron_variant BRCA-EU 9 33332359 33332359 single base substitution C G intron_variant BRCA-EU 9 33332990 33332990 single base substitution T C downstream_gene_variant BRCA-EU 9 33332990 33332990 single base substitution T C intron_variant BRCA-EU 9 33334488 33334488 single base substitution G C downstream_gene_variant BRCA-EU 9 33334488 33334488 single base substitution G C intron_variant BRCA-EU 9 33334529 33334529 single base substitution A T downstream_gene_variant BRCA-EU 9 33334529 33334529 single base substitution A T intron_variant BRCA-EU 9 33334852 33334852 single base substitution G A downstream_gene_variant BRCA-EU 9 33334852 33334852 single base substitution G A intron_variant BRCA-EU 9 33335083 33335083 deletion of <=200bp T - downstream_gene_variant BRCA-EU 9 33335083 33335083 deletion of <=200bp T - intron_variant BRCA-EU 9 33335235 33335235 single base substitution T C downstream_gene_variant BRCA-EU 9 33335235 33335235 single base substitution T C intron_variant BRCA-EU 9 33335832 33335832 single base substitution G T downstream_gene_variant BRCA-EU 9 33335832 33335832 single base substitution G T intron_variant BRCA-EU 9 33335837 33335837 single base substitution C T downstream_gene_variant BRCA-EU 9 33335837 33335837 single base substitution C T intron_variant BRCA-EU 9 33336205 33336205 single base substitution C A downstream_gene_variant BRCA-EU 9 33336205 33336205 single base substitution C A intron_variant BRCA-EU 9 33338501 33338501 single base substitution A C splice_region_variant BRCA-EU 9 33338501 33338501 single base substitution A C upstream_gene_variant BRCA-EU 9 33339952 33339952 deletion of <=200bp C - intron_variant BRCA-EU 9 33339952 33339952 deletion of <=200bp C - upstream_gene_variant BRCA-EU 9 33340060 33340060 single base substitution G A intron_variant BRCA-EU 9 33340060 33340060 single base substitution G A upstream_gene_variant BRCA-EU 9 33340111 33340111 single base substitution G C intron_variant BRCA-EU 9 33340111 33340111 single base substitution G C upstream_gene_variant BRCA-EU 9 33341273 33341273 single base substitution G C intron_variant BRCA-EU 9 33341273 33341273 single base substitution G C upstream_gene_variant BRCA-EU 9 33341850 33341850 single base substitution C A intron_variant BRCA-EU 9 33341850 33341850 single base substitution C A upstream_gene_variant BRCA-EU 9 33342365 33342365 single base substitution C A intron_variant BRCA-EU 9 33342365 33342365 single base substitution C A upstream_gene_variant BRCA-EU 9 33342744 33342744 single base substitution G C missense_variant D706H 2116G>C BRCA-EU 9 33342744 33342744 single base substitution G C upstream_gene_variant BRCA-EU 9 33343633 33343633 single base substitution A T intron_variant BRCA-EU 9 33347856 33347856 single base substitution G T 3_prime_UTR_variant BRCA-EU 9 33347856 33347856 single base substitution G T intron_variant BRCA-EU 9 33347951 33347951 single base substitution A C 3_prime_UTR_variant BRCA-EU 9 33347951 33347951 single base substitution A C intron_variant BRCA-EU 9 33349143 33349143 single base substitution G C downstream_gene_variant BRCA-EU 9 33349143 33349143 single base substitution G C intron_variant BRCA-EU 9 33349582 33349582 single base substitution A G downstream_gene_variant BRCA-EU 9 33349582 33349582 single base substitution A G intron_variant BRCA-EU 9 33349674 33349674 single base substitution A G downstream_gene_variant BRCA-EU 9 33349674 33349674 single base substitution A G intron_variant BRCA-EU 9 33351225 33351225 single base substitution G A downstream_gene_variant BRCA-EU 9 33351225 33351225 single base substitution G A intron_variant BRCA-EU 9 33351454 33351454 single base substitution A C downstream_gene_variant BRCA-EU 9 33351454 33351454 single base substitution A C intron_variant BRCA-EU 9 33353343 33353343 single base substitution G A downstream_gene_variant BRCA-EU 9 33353343 33353343 single base substitution G A intron_variant BRCA-EU 9 33353423 33353424 deletion of <=200bp TA - downstream_gene_variant BRCA-EU 9 33353423 33353424 deletion of <=200bp TA - intron_variant BRCA-EU 9 33356548 33356548 single base substitution C T downstream_gene_variant BRCA-EU 9 33356548 33356548 single base substitution C T intron_variant BRCA-EU 9 33358241 33358241 single base substitution G T intron_variant BRCA-EU 9 33358819 33358819 single base substitution C A intron_variant BRCA-EU 9 33359799 33359799 single base substitution T G intron_variant BRCA-EU 9 33360050 33360050 single base substitution C T intron_variant BRCA-EU 9 33361592 33361592 single base substitution G A intron_variant BRCA-EU 9 33361592 33361592 single base substitution G A upstream_gene_variant BRCA-EU 9 33362432 33362432 deletion of <=200bp A - intron_variant BRCA-EU 9 33362432 33362432 deletion of <=200bp A - upstream_gene_variant BRCA-EU 9 33363674 33363674 single base substitution G A intron_variant BRCA-EU 9 33363674 33363674 single base substitution G A upstream_gene_variant BRCA-EU 9 33363802 33363802 single base substitution G C intron_variant BRCA-EU 9 33363802 33363802 single base substitution G C upstream_gene_variant BRCA-EU 9 33363991 33363992 deletion of <=200bp CT - intron_variant BRCA-EU 9 33363991 33363992 deletion of <=200bp CT - upstream_gene_variant BRCA-EU 9 33365423 33365423 single base substitution G A downstream_gene_variant BRCA-EU 9 33365423 33365423 single base substitution G A exon_variant BRCA-EU 9 33365423 33365423 single base substitution G A intron_variant BRCA-EU 9 33365772 33365772 single base substitution T C downstream_gene_variant BRCA-EU 9 33365772 33365772 single base substitution T C exon_variant BRCA-EU 9 33365772 33365772 single base substitution T C intron_variant BRCA-EU 9 33367167 33367167 single base substitution C G downstream_gene_variant BRCA-EU 9 33367167 33367167 single base substitution C G intron_variant BRCA-EU 9 33367440 33367440 single base substitution G C downstream_gene_variant BRCA-EU 9 33367440 33367440 single base substitution G C intron_variant BRCA-EU 9 33367473 33367473 single base substitution A G downstream_gene_variant BRCA-EU 9 33367473 33367473 single base substitution A G intron_variant BRCA-EU 9 33369880 33369880 single base substitution G A downstream_gene_variant BRCA-EU 9 33369880 33369880 single base substitution G A intron_variant BRCA-EU 9 33370081 33370081 single base substitution C T 3_prime_UTR_variant BRCA-EU 9 33370081 33370081 single base substitution C T downstream_gene_variant BRCA-EU 9 33370093 33370093 single base substitution C T 3_prime_UTR_variant BRCA-EU 9 33370093 33370093 single base substitution C T downstream_gene_variant BRCA-EU 9 33370760 33370760 single base substitution C A 3_prime_UTR_variant BRCA-EU 9 33370760 33370760 single base substitution C A downstream_gene_variant BRCA-EU 9 33372728 33372728 single base substitution C T downstream_gene_variant BRCA-EU 9 33372800 33372800 single base substitution C T downstream_gene_variant BRCA-EU 9 33372963 33372963 single base substitution C T downstream_gene_variant BRCA-EU 9 33373212 33373212 single base substitution C T downstream_gene_variant BRCA-EU 9 33373465 33373465 single base substitution C T downstream_gene_variant BRCA-EU 9 33373842 33373842 single base substitution C T downstream_gene_variant BRCA-EU 9 33374185 33374185 single base substitution C T downstream_gene_variant BRCA-EU 9 33374317 33374317 single base substitution C A downstream_gene_variant BRCA-EU 9 33374568 33374568 single base substitution C T downstream_gene_variant BRCA-EU 9 33374870 33374870 single base substitution C T downstream_gene_variant BRCA-EU 9 33375060 33375060 single base substitution G C downstream_gene_variant BRCA-EU 9 33375143 33375143 single base substitution C G downstream_gene_variant BRCA-EU 9 33375442 33375442 single base substitution G A downstream_gene_variant BRCA-EU 9 33375671 33375671 single base substitution G C downstream_gene_variant BRCA-EU 9 33375747 33375747 single base substitution C G downstream_gene_variant BRCA-EU 9 33376026 33376026 single base substitution G A downstream_gene_variant BRCA-EU 9 33376091 33376091 single base substitution G A downstream_gene_variant BRCA-FR 9 33289356 33289356 single base substitution C T upstream_gene_variant BRCA-FR 9 33300096 33300096 single base substitution G C intron_variant BRCA-FR 9 33303347 33303347 single base substitution G A intron_variant BRCA-FR 9 33309214 33309214 single base substitution G A intron_variant BRCA-FR 9 33311874 33311874 single base substitution C G intron_variant BRCA-FR 9 33314837 33314837 single base substitution T C intron_variant BRCA-FR 9 33314837 33314837 single base substitution T C upstream_gene_variant BRCA-FR 9 33316058 33316058 single base substitution C G intron_variant BRCA-FR 9 33316058 33316058 single base substitution C G upstream_gene_variant BRCA-FR 9 33316776 33316776 single base substitution C T intron_variant BRCA-FR 9 33316776 33316776 single base substitution C T upstream_gene_variant BRCA-FR 9 33316859 33316859 single base substitution C G intron_variant BRCA-FR 9 33316859 33316859 single base substitution C G upstream_gene_variant BRCA-FR 9 33318872 33318872 single base substitution A T intron_variant BRCA-FR 9 33318872 33318872 single base substitution A T upstream_gene_variant BRCA-FR 9 33319397 33319397 single base substitution C G intron_variant BRCA-FR 9 33327282 33327282 single base substitution C G intron_variant BRCA-FR 9 33332359 33332359 single base substitution C G intron_variant BRCA-FR 9 33332906 33332906 single base substitution C T downstream_gene_variant BRCA-FR 9 33332906 33332906 single base substitution C T intron_variant BRCA-FR 9 33334529 33334529 single base substitution A T downstream_gene_variant BRCA-FR 9 33334529 33334529 single base substitution A T intron_variant BRCA-FR 9 33334852 33334852 single base substitution G A downstream_gene_variant BRCA-FR 9 33334852 33334852 single base substitution G A intron_variant BRCA-FR 9 33335832 33335832 single base substitution G T downstream_gene_variant BRCA-FR 9 33335832 33335832 single base substitution G T intron_variant BRCA-FR 9 33335837 33335837 single base substitution C T downstream_gene_variant BRCA-FR 9 33335837 33335837 single base substitution C T intron_variant BRCA-FR 9 33336205 33336205 single base substitution C A downstream_gene_variant BRCA-FR 9 33336205 33336205 single base substitution C A intron_variant BRCA-FR 9 33356233 33356233 single base substitution A G downstream_gene_variant BRCA-FR 9 33356233 33356233 single base substitution A G intron_variant BRCA-FR 9 33364691 33364691 single base substitution G T intron_variant BRCA-FR 9 33364691 33364691 single base substitution G T upstream_gene_variant BRCA-FR 9 33365772 33365772 single base substitution T C downstream_gene_variant BRCA-FR 9 33365772 33365772 single base substitution T C exon_variant BRCA-FR 9 33365772 33365772 single base substitution T C intron_variant BRCA-UK 9 33304135 33304135 single base substitution C T intron_variant BRCA-UK 9 33304830 33304830 single base substitution G A intron_variant BRCA-UK 9 33326072 33326072 single base substitution C G intron_variant BRCA-UK 9 33326756 33326756 single base substitution C G intron_variant BRCA-UK 9 33327479 33327479 single base substitution C T intron_variant BRCA-UK 9 33353463 33353463 single base substitution G A downstream_gene_variant BRCA-UK 9 33353463 33353463 single base substitution G A intron_variant BRCA-UK 9 33368258 33368258 single base substitution G A downstream_gene_variant BRCA-UK 9 33368258 33368258 single base substitution G A intron_variant BRCA-US 9 33294960 33294960 single base substitution T C missense_variant C190R 568T>C BRCA-US 9 33328583 33328583 single base substitution C G exon_variant BRCA-US 9 33328583 33328583 single base substitution C G missense_variant F637L 1911C>G BRCA-US 9 33344082 33344082 single base substitution C T exon_variant BRCA-US 9 33344082 33344082 single base substitution C T missense_variant T747I 2240C>T BRCA-US 9 33351758 33351758 single base substitution A C downstream_gene_variant BRCA-US 9 33351758 33351758 single base substitution A C exon_variant BRCA-US 9 33351758 33351758 single base substitution A C synonymous_variant S875S 2625A>C BRCA-US 9 33364082 33364082 single base substitution G T missense_variant S983I 2948G>T BRCA-US 9 33364082 33364082 single base substitution G T upstream_gene_variant BTCA-JP 9 33307367 33307367 single base substitution A G intron_variant CESC-US 9 33347041 33347041 single base substitution C G exon_variant CESC-US 9 33347041 33347041 single base substitution C G missense_variant H784D 2350C>G CESC-US 9 33351829 33351829 single base substitution C T downstream_gene_variant CESC-US 9 33351829 33351829 single base substitution C T exon_variant CESC-US 9 33351829 33351829 single base substitution C T intron_variant CESC-US 9 33366700 33366700 single base substitution C T downstream_gene_variant CESC-US 9 33366700 33366700 single base substitution C T exon_variant CESC-US 9 33366700 33366700 single base substitution C T missense_variant A1038V 3113C>T CESC-US 9 33366761 33366761 single base substitution C T downstream_gene_variant CESC-US 9 33366761 33366761 single base substitution C T exon_variant CESC-US 9 33366761 33366761 single base substitution C T synonymous_variant V1058V 3174C>T CLLE-ES 9 33315611 33315611 single base substitution G A intron_variant CLLE-ES 9 33315611 33315611 single base substitution G A upstream_gene_variant CLLE-ES 9 33324941 33324941 single base substitution A G intron_variant CLLE-ES 9 33338657 33338657 single base substitution T C intron_variant CLLE-ES 9 33338657 33338657 single base substitution T C upstream_gene_variant CLLE-ES 9 33350578 33350578 single base substitution G A downstream_gene_variant CLLE-ES 9 33350578 33350578 single base substitution G A intron_variant CLLE-ES 9 33355975 33355975 single base substitution T G downstream_gene_variant CLLE-ES 9 33355975 33355975 single base substitution T G intron_variant COAD-US 9 33294616 33294616 single base substitution C T missense_variant P75L 224C>T COAD-US 9 33303192 33303192 single base substitution G A missense_variant G399D 1196G>A COAD-US 9 33364060 33364060 single base substitution C T missense_variant R976C 2926C>T COAD-US 9 33364060 33364060 single base substitution C T upstream_gene_variant COCA-CN 9 33289208 33289208 single base substitution A G upstream_gene_variant COCA-CN 9 33294976 33294976 single base substitution G A missense_variant R195Q 584G>A COCA-CN 9 33301294 33301294 single base substitution A G missense_variant Y356C 1067A>G COCA-CN 9 33313426 33313426 single base substitution A T intron_variant COCA-CN 9 33328646 33328646 single base substitution T C exon_variant COCA-CN 9 33328646 33328646 single base substitution T C synonymous_variant V658V 1974T>C COCA-CN 9 33354073 33354073 single base substitution T C downstream_gene_variant COCA-CN 9 33354073 33354073 single base substitution T C intron_variant COCA-CN 9 33354075 33354075 single base substitution A T downstream_gene_variant COCA-CN 9 33354075 33354075 single base substitution A T intron_variant COCA-CN 9 33360594 33360594 single base substitution C A intron_variant COCA-CN 9 33360594 33360594 single base substitution C A upstream_gene_variant COCA-CN 9 33366549 33366549 single base substitution C A downstream_gene_variant COCA-CN 9 33366549 33366549 single base substitution C A intron_variant COCA-CN 9 33366751 33366751 single base substitution A G downstream_gene_variant COCA-CN 9 33366751 33366751 single base substitution A G exon_variant COCA-CN 9 33366751 33366751 single base substitution A G missense_variant N1055S 3164A>G COCA-CN 9 33366783 33366783 single base substitution C T downstream_gene_variant COCA-CN 9 33366783 33366783 single base substitution C T intron_variant COCA-CN 9 33373116 33373116 single base substitution C A downstream_gene_variant EOPC-DE 9 33292760 33292760 single base substitution A G intron_variant EOPC-DE 9 33305789 33305789 single base substitution C G intron_variant EOPC-DE 9 33347208 33347208 single base substitution A G intron_variant ESAD-UK 9 33287057 33287057 single base substitution G A upstream_gene_variant ESAD-UK 9 33292884 33292884 single base substitution T C intron_variant ESAD-UK 9 33296730 33296730 deletion of <=200bp A - intron_variant ESAD-UK 9 33297471 33297471 single base substitution G A intron_variant ESAD-UK 9 33299981 33299981 single base substitution T G intron_variant ESAD-UK 9 33303830 33303830 single base substitution T A intron_variant ESAD-UK 9 33305535 33305535 single base substitution C T intron_variant ESAD-UK 9 33306968 33306968 single base substitution C A intron_variant ESAD-UK 9 33308400 33308405 deletion of <=200bp ATTGCA - intron_variant ESAD-UK 9 33313313 33313313 insertion of <=200bp - GTG intron_variant ESAD-UK 9 33313433 33313433 single base substitution A T intron_variant ESAD-UK 9 33316645 33316645 single base substitution C T intron_variant ESAD-UK 9 33316645 33316645 single base substitution C T upstream_gene_variant ESAD-UK 9 33317424 33317424 single base substitution A T intron_variant ESAD-UK 9 33317424 33317424 single base substitution A T upstream_gene_variant ESAD-UK 9 33317846 33317846 deletion of <=200bp C - intron_variant ESAD-UK 9 33317846 33317846 deletion of <=200bp C - upstream_gene_variant ESAD-UK 9 33318116 33318116 single base substitution A T intron_variant ESAD-UK 9 33318116 33318116 single base substitution A T upstream_gene_variant ESAD-UK 9 33318662 33318662 single base substitution T C intron_variant ESAD-UK 9 33318662 33318662 single base substitution T C upstream_gene_variant ESAD-UK 9 33321009 33321009 single base substitution C T intron_variant ESAD-UK 9 33321748 33321748 single base substitution G A intron_variant ESAD-UK 9 33322111 33322111 single base substitution A G intron_variant ESAD-UK 9 33324374 33324374 single base substitution C T intron_variant ESAD-UK 9 33329220 33329220 single base substitution T C intron_variant ESAD-UK 9 33331002 33331002 single base substitution A C intron_variant ESAD-UK 9 33332913 33332913 single base substitution G A downstream_gene_variant ESAD-UK 9 33332913 33332913 single base substitution G A intron_variant ESAD-UK 9 33333942 33333942 single base substitution A C downstream_gene_variant ESAD-UK 9 33333942 33333942 single base substitution A C intron_variant ESAD-UK 9 33334062 33334062 single base substitution G A downstream_gene_variant ESAD-UK 9 33334062 33334062 single base substitution G A intron_variant ESAD-UK 9 33334601 33334601 single base substitution A G downstream_gene_variant ESAD-UK 9 33334601 33334601 single base substitution A G intron_variant ESAD-UK 9 33336577 33336577 single base substitution G A downstream_gene_variant ESAD-UK 9 33336577 33336577 single base substitution G A intron_variant ESAD-UK 9 33337656 33337656 single base substitution A G intron_variant ESAD-UK 9 33338870 33338870 single base substitution C A intron_variant ESAD-UK 9 33338870 33338870 single base substitution C A upstream_gene_variant ESAD-UK 9 33341747 33341747 single base substitution G A intron_variant ESAD-UK 9 33341747 33341747 single base substitution G A upstream_gene_variant ESAD-UK 9 33342704 33342704 single base substitution G A intron_variant ESAD-UK 9 33342704 33342704 single base substitution G A upstream_gene_variant ESAD-UK 9 33342986 33342986 deletion of <=200bp T - intron_variant ESAD-UK 9 33344764 33344764 single base substitution T C intron_variant ESAD-UK 9 33347056 33347056 single base substitution G T exon_variant ESAD-UK 9 33347056 33347056 single base substitution G T stop_gained E789* 2365G>T ESAD-UK 9 33350005 33350005 insertion of <=200bp - A downstream_gene_variant ESAD-UK 9 33350005 33350005 insertion of <=200bp - A intron_variant ESAD-UK 9 33350203 33350203 single base substitution G A downstream_gene_variant ESAD-UK 9 33350203 33350203 single base substitution G A intron_variant ESAD-UK 9 33351412 33351412 single base substitution C T downstream_gene_variant ESAD-UK 9 33351412 33351412 single base substitution C T intron_variant ESAD-UK 9 33352558 33352558 single base substitution G T downstream_gene_variant ESAD-UK 9 33352558 33352558 single base substitution G T intron_variant ESAD-UK 9 33353423 33353424 deletion of <=200bp TA - downstream_gene_variant ESAD-UK 9 33353423 33353424 deletion of <=200bp TA - intron_variant ESAD-UK 9 33362981 33362981 single base substitution C T intron_variant ESAD-UK 9 33362981 33362981 single base substitution C T upstream_gene_variant ESAD-UK 9 33363272 33363272 insertion of <=200bp - ATC intron_variant ESAD-UK 9 33363272 33363272 insertion of <=200bp - ATC upstream_gene_variant ESAD-UK 9 33365843 33365843 single base substitution A G downstream_gene_variant ESAD-UK 9 33365843 33365843 single base substitution A G exon_variant ESAD-UK 9 33365843 33365843 single base substitution A G intron_variant ESAD-UK 9 33368420 33368420 single base substitution C T downstream_gene_variant ESAD-UK 9 33368420 33368420 single base substitution C T intron_variant ESAD-UK 9 33369340 33369340 single base substitution C T downstream_gene_variant ESAD-UK 9 33369340 33369340 single base substitution C T intron_variant ESAD-UK 9 33370308 33370308 single base substitution C A 3_prime_UTR_variant ESAD-UK 9 33370308 33370308 single base substitution C A downstream_gene_variant ESAD-UK 9 33371198 33371198 deletion of <=200bp T - downstream_gene_variant ESAD-UK 9 33372035 33372035 insertion of <=200bp - A downstream_gene_variant ESAD-UK 9 33372463 33372463 single base substitution A T downstream_gene_variant ESCA-CN 9 33307265 33307265 single base substitution G A synonymous_variant Q448Q 1344G>A ESCA-CN 9 33367598 33367598 single base substitution C T downstream_gene_variant ESCA-CN 9 33367598 33367598 single base substitution C T missense_variant H1091Y 3271C>T GBM-US 9 33294757 33294757 single base substitution A C missense_variant Q122P 365A>C GBM-US 9 33351731 33351731 single base substitution G A downstream_gene_variant GBM-US 9 33351731 33351731 single base substitution G A exon_variant GBM-US 9 33351731 33351731 single base substitution G A synonymous_variant P866P 2598G>A KIRC-US 9 33351750 33351750 single base substitution A G downstream_gene_variant KIRC-US 9 33351750 33351750 single base substitution A G exon_variant KIRC-US 9 33351750 33351750 single base substitution A G missense_variant T873A 2617A>G KIRP-US 9 33319104 33319106 deletion of <=200bp CCT - exon_variant KIRP-US 9 33319104 33319106 deletion of <=200bp CCT - inframe_deletion P629 LAML-CN 9 33352712 33352712 single base substitution T C downstream_gene_variant LAML-CN 9 33352712 33352712 single base substitution T C synonymous_variant Y908Y 2724T>C LAML-KR 9 33344614 33344614 single base substitution C T intron_variant LAML-KR 9 33364233 33364233 single base substitution A C intron_variant LAML-KR 9 33364233 33364233 single base substitution A C upstream_gene_variant LGG-US 9 33311160 33311160 single base substitution A G missense_variant E478G 1433A>G LICA-CN 9 33295047 33295047 single base substitution T G missense_variant S219A 655T>G LICA-CN 9 33295225 33295225 single base substitution T A missense_variant M278K 833T>A LICA-CN 9 33311179 33311179 single base substitution A C splice_region_variant LICA-CN 9 33318939 33318939 single base substitution C A missense_variant Q574K 1720C>A LICA-CN 9 33318939 33318939 single base substitution C A upstream_gene_variant LICA-FR 9 33287832 33287832 single base substitution G C upstream_gene_variant LICA-FR 9 33302996 33302996 single base substitution T C intron_variant LICA-FR 9 33331500 33331500 single base substitution C T intron_variant LIHC-US 9 33295418 33295418 single base substitution G A synonymous_variant T342T 1026G>A LIHC-US 9 33351695 33351695 single base substitution G A downstream_gene_variant LIHC-US 9 33351695 33351695 single base substitution G A exon_variant LIHC-US 9 33351695 33351695 single base substitution G A synonymous_variant Q854Q 2562G>A LIHC-US 9 33351736 33351736 single base substitution T C downstream_gene_variant LIHC-US 9 33351736 33351736 single base substitution T C exon_variant LIHC-US 9 33351736 33351736 single base substitution T C missense_variant M868T 2603T>C LINC-JP 9 33286952 33286952 single base substitution A C upstream_gene_variant LINC-JP 9 33289186 33289186 single base substitution G A upstream_gene_variant LINC-JP 9 33292645 33292645 deletion of <=200bp T - intron_variant LINC-JP 9 33295262 33295262 single base substitution A G synonymous_variant P290P 870A>G LINC-JP 9 33295268 33295268 single base substitution A G synonymous_variant K292K 876A>G LINC-JP 9 33310853 33310853 single base substitution A G intron_variant LINC-JP 9 33328402 33328402 single base substitution G T intron_variant LINC-JP 9 33329655 33329655 single base substitution T A intron_variant LINC-JP 9 33329657 33329657 single base substitution A T intron_variant LINC-JP 9 33339099 33339099 single base substitution A G intron_variant LINC-JP 9 33339099 33339099 single base substitution A G upstream_gene_variant LINC-JP 9 33343311 33343311 single base substitution A G intron_variant LINC-JP 9 33343953 33343953 single base substitution A G intron_variant LINC-JP 9 33347848 33347848 single base substitution C T 3_prime_UTR_variant LINC-JP 9 33347848 33347848 single base substitution C T intron_variant LINC-JP 9 33348878 33348878 deletion of <=200bp A - downstream_gene_variant LINC-JP 9 33348878 33348878 deletion of <=200bp A - intron_variant LINC-JP 9 33352555 33352555 single base substitution A G downstream_gene_variant LINC-JP 9 33352555 33352555 single base substitution A G intron_variant LINC-JP 9 33354224 33354224 single base substitution A G downstream_gene_variant LINC-JP 9 33354224 33354224 single base substitution A G intron_variant LINC-JP 9 33361600 33361600 single base substitution A G intron_variant LINC-JP 9 33361600 33361600 single base substitution A G upstream_gene_variant LINC-JP 9 33363880 33363880 single base substitution A G intron_variant LINC-JP 9 33363880 33363880 single base substitution A G upstream_gene_variant LIRI-JP 9 33287039 33287039 single base substitution T G upstream_gene_variant LIRI-JP 9 33288675 33288675 single base substitution C A upstream_gene_variant LIRI-JP 9 33291010 33291010 single base substitution A G intron_variant LIRI-JP 9 33291143 33291143 single base substitution A G intron_variant LIRI-JP 9 33293834 33293834 single base substitution C T intron_variant LIRI-JP 9 33294317 33294317 single base substitution A G intron_variant LIRI-JP 9 33294334 33294334 single base substitution A G intron_variant LIRI-JP 9 33295587 33295587 single base substitution G T intron_variant LIRI-JP 9 33296142 33296142 single base substitution C T intron_variant LIRI-JP 9 33296220 33296220 single base substitution C G intron_variant LIRI-JP 9 33296985 33296985 single base substitution G A intron_variant LIRI-JP 9 33299011 33299011 single base substitution C T intron_variant LIRI-JP 9 33300145 33300145 single base substitution C T intron_variant LIRI-JP 9 33300801 33300801 single base substitution C G intron_variant LIRI-JP 9 33301336 33301336 single base substitution C G missense_variant P370R 1109C>G LIRI-JP 9 33303646 33303646 single base substitution A G intron_variant LIRI-JP 9 33305921 33305921 single base substitution C T intron_variant LIRI-JP 9 33307048 33307078 deletion of <=200bp TTTAAGATATGGGATAATACATTTGTTGAAA - intron_variant LIRI-JP 9 33307360 33307360 single base substitution T C intron_variant LIRI-JP 9 33307497 33307497 single base substitution A G intron_variant LIRI-JP 9 33311225 33311225 single base substitution A C intron_variant LIRI-JP 9 33311338 33311338 single base substitution C G intron_variant LIRI-JP 9 33312611 33312611 single base substitution G A intron_variant LIRI-JP 9 33314953 33314953 single base substitution A G intron_variant LIRI-JP 9 33314953 33314953 single base substitution A G upstream_gene_variant LIRI-JP 9 33316964 33316964 single base substitution A G intron_variant LIRI-JP 9 33316964 33316964 single base substitution A G upstream_gene_variant LIRI-JP 9 33317965 33317965 single base substitution C G intron_variant LIRI-JP 9 33317965 33317965 single base substitution C G upstream_gene_variant LIRI-JP 9 33318333 33318333 single base substitution A G intron_variant LIRI-JP 9 33318333 33318333 single base substitution A G upstream_gene_variant LIRI-JP 9 33320680 33320680 single base substitution A T intron_variant LIRI-JP 9 33321204 33321204 single base substitution A G intron_variant LIRI-JP 9 33322501 33322501 single base substitution A G intron_variant LIRI-JP 9 33323358 33323358 single base substitution G A intron_variant LIRI-JP 9 33324047 33324047 single base substitution C G intron_variant LIRI-JP 9 33324545 33324545 single base substitution C G intron_variant LIRI-JP 9 33324654 33324654 single base substitution A C intron_variant LIRI-JP 9 33324764 33324764 single base substitution A G intron_variant LIRI-JP 9 33330075 33330075 single base substitution A T intron_variant LIRI-JP 9 33333268 33333268 single base substitution A G downstream_gene_variant LIRI-JP 9 33333268 33333268 single base substitution A G intron_variant LIRI-JP 9 33334497 33334497 single base substitution C A downstream_gene_variant LIRI-JP 9 33334497 33334497 single base substitution C A intron_variant LIRI-JP 9 33334615 33334615 single base substitution A G downstream_gene_variant LIRI-JP 9 33334615 33334615 single base substitution A G intron_variant LIRI-JP 9 33335790 33335790 single base substitution A G downstream_gene_variant LIRI-JP 9 33335790 33335790 single base substitution A G intron_variant LIRI-JP 9 33336443 33336443 single base substitution A C downstream_gene_variant LIRI-JP 9 33336443 33336443 single base substitution A C intron_variant LIRI-JP 9 33337242 33337242 single base substitution T G downstream_gene_variant LIRI-JP 9 33337242 33337242 single base substitution T G intron_variant LIRI-JP 9 33337249 33337249 single base substitution T C downstream_gene_variant LIRI-JP 9 33337249 33337249 single base substitution T C intron_variant LIRI-JP 9 33339160 33339160 single base substitution A G intron_variant LIRI-JP 9 33339160 33339160 single base substitution A G upstream_gene_variant LIRI-JP 9 33339966 33339966 single base substitution G T intron_variant LIRI-JP 9 33339966 33339966 single base substitution G T upstream_gene_variant LIRI-JP 9 33341311 33341311 single base substitution T G intron_variant LIRI-JP 9 33341311 33341311 single base substitution T G upstream_gene_variant LIRI-JP 9 33343711 33343711 single base substitution A G intron_variant LIRI-JP 9 33344411 33344411 single base substitution T C intron_variant LIRI-JP 9 33345935 33345935 single base substitution A G intron_variant LIRI-JP 9 33347119 33347119 single base substitution A C splice_region_variant LIRI-JP 9 33349699 33349699 single base substitution A G downstream_gene_variant LIRI-JP 9 33349699 33349699 single base substitution A G intron_variant LIRI-JP 9 33352694 33352694 single base substitution T A downstream_gene_variant LIRI-JP 9 33352694 33352694 single base substitution T A synonymous_variant S902S 2706T>A LIRI-JP 9 33354292 33354292 single base substitution A G downstream_gene_variant LIRI-JP 9 33354292 33354292 single base substitution A G intron_variant LIRI-JP 9 33354297 33354297 single base substitution A G downstream_gene_variant LIRI-JP 9 33354297 33354297 single base substitution A G intron_variant LIRI-JP 9 33354763 33354763 single base substitution A G downstream_gene_variant LIRI-JP 9 33354763 33354763 single base substitution A G intron_variant LIRI-JP 9 33355315 33355315 single base substitution G T downstream_gene_variant LIRI-JP 9 33355315 33355315 single base substitution G T intron_variant LIRI-JP 9 33355382 33355382 single base substitution A G downstream_gene_variant LIRI-JP 9 33355382 33355382 single base substitution A G intron_variant LIRI-JP 9 33358887 33358887 single base substitution G T intron_variant LIRI-JP 9 33360888 33360888 insertion of <=200bp - T intron_variant LIRI-JP 9 33360888 33360888 insertion of <=200bp - T upstream_gene_variant LIRI-JP 9 33364745 33364745 single base substitution G T missense_variant M1004I 3012G>T LIRI-JP 9 33364745 33364745 single base substitution G T upstream_gene_variant LIRI-JP 9 33364746 33364746 single base substitution G T stop_gained E1005* 3013G>T LIRI-JP 9 33364746 33364746 single base substitution G T upstream_gene_variant LIRI-JP 9 33365069 33365069 single base substitution C G 3_prime_UTR_variant LIRI-JP 9 33365069 33365069 single base substitution C G intron_variant LIRI-JP 9 33365069 33365069 single base substitution C G upstream_gene_variant LIRI-JP 9 33365469 33365469 single base substitution G T downstream_gene_variant LIRI-JP 9 33365469 33365469 single base substitution G T exon_variant LIRI-JP 9 33365469 33365469 single base substitution G T intron_variant LIRI-JP 9 33366083 33366083 single base substitution C G downstream_gene_variant LIRI-JP 9 33366083 33366083 single base substitution C G intron_variant LIRI-JP 9 33368101 33368101 single base substitution C T downstream_gene_variant LIRI-JP 9 33368101 33368101 single base substitution C T intron_variant LIRI-JP 9 33368444 33368444 single base substitution A G downstream_gene_variant LIRI-JP 9 33368444 33368444 single base substitution A G intron_variant LIRI-JP 9 33370257 33370257 single base substitution T G 3_prime_UTR_variant LIRI-JP 9 33370257 33370257 single base substitution T G downstream_gene_variant LIRI-JP 9 33371897 33371897 single base substitution A G downstream_gene_variant LUSC-KR 9 33293353 33293353 single base substitution C T intron_variant LUSC-KR 9 33295213 33295213 single base substitution A G missense_variant H274R 821A>G LUSC-KR 9 33298895 33298895 single base substitution G A intron_variant LUSC-KR 9 33303387 33303387 single base substitution C T intron_variant LUSC-KR 9 33313431 33313431 single base substitution A C intron_variant LUSC-KR 9 33313540 33313540 single base substitution T C intron_variant LUSC-KR 9 33314713 33314713 single base substitution A T intron_variant LUSC-KR 9 33314713 33314713 single base substitution A T upstream_gene_variant LUSC-KR 9 33318456 33318456 single base substitution G C intron_variant LUSC-KR 9 33318456 33318456 single base substitution G C upstream_gene_variant LUSC-KR 9 33322221 33322221 single base substitution T C intron_variant LUSC-KR 9 33325505 33325505 single base substitution A T intron_variant LUSC-KR 9 33325581 33325581 single base substitution G T intron_variant LUSC-KR 9 33326972 33326972 single base substitution T C intron_variant LUSC-KR 9 33333030 33333030 single base substitution G C downstream_gene_variant LUSC-KR 9 33333030 33333030 single base substitution G C intron_variant LUSC-KR 9 33336169 33336169 single base substitution C T downstream_gene_variant LUSC-KR 9 33336169 33336169 single base substitution C T intron_variant LUSC-KR 9 33336242 33336242 single base substitution C G downstream_gene_variant LUSC-KR 9 33336242 33336242 single base substitution C G intron_variant LUSC-KR 9 33341912 33341912 single base substitution C T intron_variant LUSC-KR 9 33341912 33341912 single base substitution C T upstream_gene_variant LUSC-KR 9 33342857 33342857 single base substitution G T intron_variant LUSC-KR 9 33342857 33342857 single base substitution G T splice_region_variant LUSC-KR 9 33350320 33350320 single base substitution G A downstream_gene_variant LUSC-KR 9 33350320 33350320 single base substitution G A intron_variant LUSC-KR 9 33355839 33355839 single base substitution C A downstream_gene_variant LUSC-KR 9 33355839 33355839 single base substitution C A intron_variant LUSC-KR 9 33358139 33358139 single base substitution T C intron_variant LUSC-KR 9 33362827 33362827 single base substitution G C intron_variant LUSC-KR 9 33362827 33362827 single base substitution G C upstream_gene_variant LUSC-KR 9 33370327 33370327 single base substitution C G 3_prime_UTR_variant LUSC-KR 9 33370327 33370327 single base substitution C G downstream_gene_variant LUSC-KR 9 33372291 33372291 single base substitution G T downstream_gene_variant LUSC-US 9 33318767 33318767 single base substitution G T stop_gained G543* 1627G>T LUSC-US 9 33318767 33318767 single base substitution G T upstream_gene_variant LUSC-US 9 33344173 33344173 single base substitution G T exon_variant LUSC-US 9 33344173 33344173 single base substitution G T missense_variant E777D 2331G>T MALY-DE 9 33286919 33286919 single base substitution T G upstream_gene_variant MALY-DE 9 33288351 33288352 deletion of <=200bp GT - upstream_gene_variant MALY-DE 9 33290323 33290323 single base substitution A C upstream_gene_variant MALY-DE 9 33303763 33303763 single base substitution C T intron_variant MALY-DE 9 33311295 33311295 deletion of <=200bp T - intron_variant MALY-DE 9 33316040 33316040 single base substitution T G intron_variant MALY-DE 9 33316040 33316040 single base substitution T G upstream_gene_variant MALY-DE 9 33317050 33317050 single base substitution G A intron_variant MALY-DE 9 33317050 33317050 single base substitution G A upstream_gene_variant MALY-DE 9 33321870 33321870 single base substitution C G intron_variant MALY-DE 9 33323113 33323114 deletion of <=200bp AA - intron_variant MALY-DE 9 33332445 33332445 single base substitution A G intron_variant MALY-DE 9 33335083 33335083 deletion of <=200bp T - downstream_gene_variant MALY-DE 9 33335083 33335083 deletion of <=200bp T - intron_variant MALY-DE 9 33346168 33346168 single base substitution A G intron_variant MALY-DE 9 33357457 33357457 single base substitution G T intron_variant MALY-DE 9 33362057 33362057 single base substitution T C intron_variant MALY-DE 9 33362057 33362057 single base substitution T C upstream_gene_variant MALY-DE 9 33367969 33367969 single base substitution C T downstream_gene_variant MALY-DE 9 33367969 33367969 single base substitution C T intron_variant MALY-DE 9 33372120 33372120 single base substitution A G downstream_gene_variant MALY-DE 9 33374737 33374737 insertion of <=200bp - A downstream_gene_variant MELA-AU 9 33286182 33286182 single base substitution C T upstream_gene_variant MELA-AU 9 33286747 33286747 single base substitution G A upstream_gene_variant MELA-AU 9 33287665 33287665 single base substitution C T upstream_gene_variant MELA-AU 9 33288243 33288243 single base substitution C T upstream_gene_variant MELA-AU 9 33288454 33288454 single base substitution C T upstream_gene_variant MELA-AU 9 33289044 33289045 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 9 33289375 33289375 single base substitution G A upstream_gene_variant MELA-AU 9 33290195 33290195 single base substitution G A upstream_gene_variant MELA-AU 9 33290479 33290479 single base substitution G A upstream_gene_variant MELA-AU 9 33292072 33292072 single base substitution C T intron_variant MELA-AU 9 33292573 33292573 single base substitution T G intron_variant MELA-AU 9 33295248 33295248 single base substitution C T missense_variant L286F 856C>T MELA-AU 9 33296725 33296725 single base substitution G A intron_variant MELA-AU 9 33297637 33297637 single base substitution T C intron_variant MELA-AU 9 33298363 33298363 single base substitution G A intron_variant MELA-AU 9 33298958 33298958 single base substitution T C intron_variant MELA-AU 9 33300383 33300383 single base substitution C T intron_variant MELA-AU 9 33301071 33301071 single base substitution C T intron_variant MELA-AU 9 33301453 33301453 single base substitution C T intron_variant MELA-AU 9 33301553 33301553 single base substitution C T intron_variant MELA-AU 9 33301562 33301562 single base substitution C T intron_variant MELA-AU 9 33301635 33301635 single base substitution C T intron_variant MELA-AU 9 33301710 33301710 single base substitution C T intron_variant MELA-AU 9 33301994 33301994 single base substitution C T intron_variant MELA-AU 9 33302236 33302236 single base substitution C T intron_variant MELA-AU 9 33302241 33302241 single base substitution C T intron_variant MELA-AU 9 33303295 33303295 single base substitution C T intron_variant MELA-AU 9 33303509 33303509 single base substitution C T intron_variant MELA-AU 9 33303837 33303837 single base substitution C T intron_variant MELA-AU 9 33303886 33303886 single base substitution G A intron_variant MELA-AU 9 33305058 33305059 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 9 33305954 33305954 single base substitution G A intron_variant MELA-AU 9 33306556 33306556 single base substitution G A intron_variant MELA-AU 9 33307000 33307000 single base substitution C T intron_variant MELA-AU 9 33307474 33307474 single base substitution C T intron_variant MELA-AU 9 33308275 33308275 single base substitution A C intron_variant MELA-AU 9 33308474 33308474 single base substitution T G intron_variant MELA-AU 9 33309230 33309230 single base substitution C T intron_variant MELA-AU 9 33309490 33309490 single base substitution C T intron_variant MELA-AU 9 33310189 33310189 single base substitution C T intron_variant MELA-AU 9 33312091 33312091 single base substitution C T intron_variant MELA-AU 9 33312964 33312964 single base substitution C T intron_variant MELA-AU 9 33313010 33313010 single base substitution G A intron_variant MELA-AU 9 33313704 33313704 single base substitution G A missense_variant E501K 1501G>A MELA-AU 9 33314105 33314106 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 9 33314105 33314106 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 9 33314378 33314378 single base substitution T G intron_variant MELA-AU 9 33314378 33314378 single base substitution T G upstream_gene_variant MELA-AU 9 33315281 33315281 single base substitution C T intron_variant MELA-AU 9 33315281 33315281 single base substitution C T upstream_gene_variant MELA-AU 9 33316571 33316571 single base substitution C T intron_variant MELA-AU 9 33316571 33316571 single base substitution C T upstream_gene_variant MELA-AU 9 33317061 33317061 single base substitution C T intron_variant MELA-AU 9 33317061 33317061 single base substitution C T upstream_gene_variant MELA-AU 9 33317300 33317300 single base substitution C T intron_variant MELA-AU 9 33317300 33317300 single base substitution C T upstream_gene_variant MELA-AU 9 33317409 33317409 single base substitution C T intron_variant MELA-AU 9 33317409 33317409 single base substitution C T upstream_gene_variant MELA-AU 9 33318261 33318261 single base substitution T C intron_variant MELA-AU 9 33318261 33318261 single base substitution T C upstream_gene_variant MELA-AU 9 33318605 33318605 single base substitution C G intron_variant MELA-AU 9 33318605 33318605 single base substitution C G upstream_gene_variant MELA-AU 9 33318607 33318607 single base substitution C T intron_variant MELA-AU 9 33318607 33318607 single base substitution C T upstream_gene_variant MELA-AU 9 33319670 33319670 single base substitution G A intron_variant MELA-AU 9 33320903 33320903 single base substitution C T intron_variant MELA-AU 9 33321237 33321238 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 9 33321712 33321712 deletion of <=200bp A - intron_variant MELA-AU 9 33321945 33321945 single base substitution C T intron_variant MELA-AU 9 33323134 33323134 single base substitution G A intron_variant MELA-AU 9 33323563 33323563 single base substitution C T intron_variant MELA-AU 9 33323586 33323586 single base substitution A T intron_variant MELA-AU 9 33323670 33323670 single base substitution G A intron_variant MELA-AU 9 33324203 33324203 single base substitution C T intron_variant MELA-AU 9 33325609 33325609 single base substitution C T intron_variant MELA-AU 9 33325658 33325658 single base substitution T C intron_variant MELA-AU 9 33326466 33326466 single base substitution C T intron_variant MELA-AU 9 33327590 33327590 single base substitution C T intron_variant MELA-AU 9 33329037 33329037 single base substitution A G intron_variant MELA-AU 9 33330435 33330435 single base substitution C T intron_variant MELA-AU 9 33330436 33330436 single base substitution C T intron_variant MELA-AU 9 33331382 33331382 single base substitution C T intron_variant MELA-AU 9 33331499 33331500 multiple base substitution (>=2bp and <=200bp) CC AA intron_variant MELA-AU 9 33331853 33331853 single base substitution C T intron_variant MELA-AU 9 33334408 33334408 single base substitution T G downstream_gene_variant MELA-AU 9 33334408 33334408 single base substitution T G intron_variant MELA-AU 9 33334689 33334689 single base substitution C T downstream_gene_variant MELA-AU 9 33334689 33334689 single base substitution C T intron_variant MELA-AU 9 33334718 33334718 single base substitution C T downstream_gene_variant MELA-AU 9 33334718 33334718 single base substitution C T intron_variant MELA-AU 9 33334828 33334828 single base substitution C T downstream_gene_variant MELA-AU 9 33334828 33334828 single base substitution C T intron_variant MELA-AU 9 33334859 33334859 single base substitution C T downstream_gene_variant MELA-AU 9 33334859 33334859 single base substitution C T intron_variant MELA-AU 9 33335057 33335057 single base substitution C T downstream_gene_variant MELA-AU 9 33335057 33335057 single base substitution C T intron_variant MELA-AU 9 33335717 33335717 single base substitution C T downstream_gene_variant MELA-AU 9 33335717 33335717 single base substitution C T intron_variant MELA-AU 9 33336119 33336119 single base substitution C T downstream_gene_variant MELA-AU 9 33336119 33336119 single base substitution C T intron_variant MELA-AU 9 33336396 33336409 deletion of <=200bp TAGAGATGGGGTTT - downstream_gene_variant MELA-AU 9 33336396 33336409 deletion of <=200bp TAGAGATGGGGTTT - intron_variant MELA-AU 9 33336412 33336412 single base substitution C T downstream_gene_variant MELA-AU 9 33336412 33336412 single base substitution C T intron_variant MELA-AU 9 33337185 33337185 single base substitution C T downstream_gene_variant MELA-AU 9 33337185 33337185 single base substitution C T intron_variant MELA-AU 9 33337191 33337191 single base substitution C T downstream_gene_variant MELA-AU 9 33337191 33337191 single base substitution C T intron_variant MELA-AU 9 33337611 33337611 single base substitution C T downstream_gene_variant MELA-AU 9 33337611 33337611 single base substitution C T intron_variant MELA-AU 9 33337720 33337720 single base substitution C T intron_variant MELA-AU 9 33338352 33338352 single base substitution C T intron_variant MELA-AU 9 33338352 33338352 single base substitution C T upstream_gene_variant MELA-AU 9 33338598 33338598 single base substitution T C intron_variant MELA-AU 9 33338598 33338598 single base substitution T C upstream_gene_variant MELA-AU 9 33339169 33339169 single base substitution T C intron_variant MELA-AU 9 33339169 33339169 single base substitution T C upstream_gene_variant MELA-AU 9 33339552 33339552 single base substitution C T intron_variant MELA-AU 9 33339552 33339552 single base substitution C T upstream_gene_variant MELA-AU 9 33339768 33339768 single base substitution G A intron_variant MELA-AU 9 33339768 33339768 single base substitution G A upstream_gene_variant MELA-AU 9 33340104 33340104 single base substitution C T intron_variant MELA-AU 9 33340104 33340104 single base substitution C T upstream_gene_variant MELA-AU 9 33340371 33340371 single base substitution G A intron_variant MELA-AU 9 33340371 33340371 single base substitution G A upstream_gene_variant MELA-AU 9 33340907 33340907 single base substitution C T intron_variant MELA-AU 9 33340907 33340907 single base substitution C T upstream_gene_variant MELA-AU 9 33341821 33341821 single base substitution A G intron_variant MELA-AU 9 33341821 33341821 single base substitution A G upstream_gene_variant MELA-AU 9 33341905 33341905 single base substitution A G intron_variant MELA-AU 9 33341905 33341905 single base substitution A G upstream_gene_variant MELA-AU 9 33342228 33342229 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 9 33342228 33342229 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 9 33342557 33342557 single base substitution C T intron_variant MELA-AU 9 33342557 33342557 single base substitution C T upstream_gene_variant MELA-AU 9 33343459 33343459 single base substitution T C intron_variant MELA-AU 9 33344137 33344137 single base substitution C T exon_variant MELA-AU 9 33344137 33344137 single base substitution C T synonymous_variant P765P 2295C>T MELA-AU 9 33344437 33344437 single base substitution C T intron_variant MELA-AU 9 33346325 33346325 single base substitution C T intron_variant MELA-AU 9 33346429 33346429 single base substitution C T intron_variant MELA-AU 9 33346614 33346614 single base substitution C T intron_variant MELA-AU 9 33346825 33346825 single base substitution C A intron_variant MELA-AU 9 33347232 33347232 single base substitution C T intron_variant MELA-AU 9 33347394 33347395 multiple base substitution (>=2bp and <=200bp) CC AT intron_variant MELA-AU 9 33347948 33347948 single base substitution C T 3_prime_UTR_variant MELA-AU 9 33347948 33347948 single base substitution C T intron_variant MELA-AU 9 33348097 33348097 single base substitution C T 3_prime_UTR_variant MELA-AU 9 33348097 33348097 single base substitution C T intron_variant MELA-AU 9 33348304 33348304 single base substitution C T 3_prime_UTR_variant MELA-AU 9 33348304 33348304 single base substitution C T intron_variant MELA-AU 9 33349605 33349605 single base substitution C T downstream_gene_variant MELA-AU 9 33349605 33349605 single base substitution C T intron_variant MELA-AU 9 33351139 33351139 single base substitution C T downstream_gene_variant MELA-AU 9 33351139 33351139 single base substitution C T intron_variant MELA-AU 9 33353078 33353078 single base substitution C T downstream_gene_variant MELA-AU 9 33353078 33353078 single base substitution C T intron_variant MELA-AU 9 33353716 33353716 single base substitution C T downstream_gene_variant MELA-AU 9 33353716 33353716 single base substitution C T intron_variant MELA-AU 9 33354018 33354018 single base substitution C T downstream_gene_variant MELA-AU 9 33354018 33354018 single base substitution C T intron_variant MELA-AU 9 33354168 33354168 single base substitution G A downstream_gene_variant MELA-AU 9 33354168 33354168 single base substitution G A synonymous_variant K938K 2814G>A MELA-AU 9 33354598 33354598 single base substitution C T downstream_gene_variant MELA-AU 9 33354598 33354598 single base substitution C T intron_variant MELA-AU 9 33357155 33357155 single base substitution C T intron_variant MELA-AU 9 33357326 33357326 single base substitution A C intron_variant MELA-AU 9 33357523 33357523 single base substitution T C intron_variant MELA-AU 9 33357751 33357751 single base substitution C T intron_variant MELA-AU 9 33357999 33357999 single base substitution C T intron_variant MELA-AU 9 33359184 33359184 single base substitution C T intron_variant MELA-AU 9 33359394 33359394 single base substitution C T intron_variant MELA-AU 9 33359475 33359475 single base substitution T A intron_variant MELA-AU 9 33359477 33359477 single base substitution G A intron_variant MELA-AU 9 33360066 33360066 single base substitution C T intron_variant MELA-AU 9 33360520 33360520 single base substitution G A intron_variant MELA-AU 9 33360520 33360520 single base substitution G A upstream_gene_variant MELA-AU 9 33360533 33360533 single base substitution T A intron_variant MELA-AU 9 33360533 33360533 single base substitution T A upstream_gene_variant MELA-AU 9 33360643 33360643 single base substitution C T intron_variant MELA-AU 9 33360643 33360643 single base substitution C T upstream_gene_variant MELA-AU 9 33361201 33361201 single base substitution G A intron_variant MELA-AU 9 33361201 33361201 single base substitution G A upstream_gene_variant MELA-AU 9 33361267 33361267 single base substitution G A intron_variant MELA-AU 9 33361267 33361267 single base substitution G A upstream_gene_variant MELA-AU 9 33361276 33361276 single base substitution G A intron_variant MELA-AU 9 33361276 33361276 single base substitution G A upstream_gene_variant MELA-AU 9 33361433 33361433 single base substitution G T intron_variant MELA-AU 9 33361433 33361433 single base substitution G T upstream_gene_variant MELA-AU 9 33362420 33362420 single base substitution C T intron_variant MELA-AU 9 33362420 33362420 single base substitution C T upstream_gene_variant MELA-AU 9 33362792 33362793 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 9 33362792 33362793 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 9 33363524 33363524 single base substitution C T intron_variant MELA-AU 9 33363524 33363524 single base substitution C T upstream_gene_variant MELA-AU 9 33363757 33363757 single base substitution C T intron_variant MELA-AU 9 33363757 33363757 single base substitution C T upstream_gene_variant MELA-AU 9 33364582 33364582 single base substitution C T intron_variant MELA-AU 9 33364582 33364582 single base substitution C T upstream_gene_variant MELA-AU 9 33365351 33365351 single base substitution C T downstream_gene_variant MELA-AU 9 33365351 33365351 single base substitution C T exon_variant MELA-AU 9 33365351 33365351 single base substitution C T intron_variant MELA-AU 9 33365395 33365395 single base substitution C T downstream_gene_variant MELA-AU 9 33365395 33365395 single base substitution C T exon_variant MELA-AU 9 33365395 33365395 single base substitution C T intron_variant MELA-AU 9 33365462 33365462 single base substitution C T downstream_gene_variant MELA-AU 9 33365462 33365462 single base substitution C T exon_variant MELA-AU 9 33365462 33365462 single base substitution C T intron_variant MELA-AU 9 33365872 33365872 single base substitution C T downstream_gene_variant MELA-AU 9 33365872 33365872 single base substitution C T exon_variant MELA-AU 9 33365872 33365872 single base substitution C T intron_variant MELA-AU 9 33365983 33365983 single base substitution C T downstream_gene_variant MELA-AU 9 33365983 33365983 single base substitution C T exon_variant MELA-AU 9 33365983 33365983 single base substitution C T intron_variant MELA-AU 9 33366107 33366107 single base substitution C T downstream_gene_variant MELA-AU 9 33366107 33366107 single base substitution C T intron_variant MELA-AU 9 33366297 33366297 single base substitution A T downstream_gene_variant MELA-AU 9 33366297 33366297 single base substitution A T intron_variant MELA-AU 9 33366540 33366540 single base substitution C T downstream_gene_variant MELA-AU 9 33366540 33366540 single base substitution C T intron_variant MELA-AU 9 33367127 33367127 single base substitution C T downstream_gene_variant MELA-AU 9 33367127 33367127 single base substitution C T intron_variant MELA-AU 9 33367740 33367740 single base substitution T C downstream_gene_variant MELA-AU 9 33367740 33367740 single base substitution T C intron_variant MELA-AU 9 33368327 33368327 single base substitution C T downstream_gene_variant MELA-AU 9 33368327 33368327 single base substitution C T intron_variant MELA-AU 9 33369049 33369049 single base substitution C T downstream_gene_variant MELA-AU 9 33369049 33369049 single base substitution C T intron_variant MELA-AU 9 33369064 33369064 single base substitution C T downstream_gene_variant MELA-AU 9 33369064 33369064 single base substitution C T intron_variant MELA-AU 9 33369415 33369415 single base substitution C T downstream_gene_variant MELA-AU 9 33369415 33369415 single base substitution C T intron_variant MELA-AU 9 33369860 33369860 single base substitution C T downstream_gene_variant MELA-AU 9 33369860 33369860 single base substitution C T intron_variant MELA-AU 9 33370058 33370058 single base substitution C T 3_prime_UTR_variant MELA-AU 9 33370058 33370058 single base substitution C T downstream_gene_variant MELA-AU 9 33370075 33370075 single base substitution C T 3_prime_UTR_variant MELA-AU 9 33370075 33370075 single base substitution C T downstream_gene_variant MELA-AU 9 33370565 33370565 single base substitution T C 3_prime_UTR_variant MELA-AU 9 33370565 33370565 single base substitution T C downstream_gene_variant MELA-AU 9 33370703 33370703 single base substitution C T 3_prime_UTR_variant MELA-AU 9 33370703 33370703 single base substitution C T downstream_gene_variant MELA-AU 9 33371213 33371214 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 9 33372765 33372765 single base substitution G A downstream_gene_variant MELA-AU 9 33374751 33374751 single base substitution C T downstream_gene_variant ORCA-IN 9 33298775 33298775 single base substitution C G intron_variant ORCA-IN 9 33302549 33302549 single base substitution C A intron_variant ORCA-IN 9 33326931 33326931 single base substitution G C intron_variant ORCA-IN 9 33365969 33365969 single base substitution C T downstream_gene_variant ORCA-IN 9 33365969 33365969 single base substitution C T exon_variant ORCA-IN 9 33365969 33365969 single base substitution C T intron_variant OV-AU 9 33290515 33290515 single base substitution A T 5_prime_UTR_variant OV-AU 9 33290515 33290515 single base substitution A T upstream_gene_variant OV-AU 9 33298094 33298094 single base substitution G T intron_variant OV-AU 9 33299324 33299324 single base substitution T G intron_variant OV-AU 9 33300456 33300456 single base substitution T C intron_variant OV-AU 9 33303196 33303196 single base substitution G A synonymous_variant Q400Q 1200G>A OV-AU 9 33306808 33306808 single base substitution C T intron_variant OV-AU 9 33310272 33310272 single base substitution C T intron_variant OV-AU 9 33327835 33327835 single base substitution T G intron_variant OV-AU 9 33328140 33328140 single base substitution C T intron_variant OV-AU 9 33331110 33331110 single base substitution A G intron_variant OV-AU 9 33339765 33339765 single base substitution G T intron_variant OV-AU 9 33339765 33339765 single base substitution G T upstream_gene_variant OV-AU 9 33340512 33340512 single base substitution G A intron_variant OV-AU 9 33340512 33340512 single base substitution G A upstream_gene_variant OV-AU 9 33362621 33362621 single base substitution A T intron_variant OV-AU 9 33362621 33362621 single base substitution A T upstream_gene_variant OV-AU 9 33368848 33368848 single base substitution G A downstream_gene_variant OV-AU 9 33368848 33368848 single base substitution G A intron_variant OV-AU 9 33372264 33372264 single base substitution T C downstream_gene_variant OV-AU 9 33374676 33374676 single base substitution G T downstream_gene_variant PACA-AU 9 33290384 33290384 single base substitution C T upstream_gene_variant PACA-AU 9 33296723 33296723 deletion of <=200bp C - intron_variant PACA-AU 9 33297836 33297837 deletion of <=200bp TT - intron_variant PACA-AU 9 33307798 33307798 single base substitution T C intron_variant PACA-AU 9 33311131 33311131 single base substitution C A synonymous_variant P468P 1404C>A PACA-AU 9 33311921 33311921 single base substitution G A intron_variant PACA-AU 9 33327666 33327666 single base substitution G A intron_variant PACA-AU 9 33330981 33330981 single base substitution G A intron_variant PACA-AU 9 33330982 33330982 single base substitution G T intron_variant PACA-AU 9 33332762 33332773 deletion of <=200bp ATGGATATGTAT - downstream_gene_variant PACA-AU 9 33332762 33332773 deletion of <=200bp ATGGATATGTAT - intron_variant PACA-AU 9 33335651 33335651 single base substitution A G downstream_gene_variant PACA-AU 9 33335651 33335651 single base substitution A G intron_variant PACA-AU 9 33338476 33338476 single base substitution G T intron_variant PACA-AU 9 33338476 33338476 single base substitution G T upstream_gene_variant PACA-AU 9 33348807 33348807 single base substitution A G downstream_gene_variant PACA-AU 9 33348807 33348807 single base substitution A G intron_variant PACA-AU 9 33354071 33354075 deletion of <=200bp TTTTA - downstream_gene_variant PACA-AU 9 33354071 33354075 deletion of <=200bp TTTTA - intron_variant PACA-AU 9 33370937 33370937 single base substitution G A 3_prime_UTR_variant PACA-AU 9 33370937 33370937 single base substitution G A downstream_gene_variant PACA-AU 9 33372859 33372859 single base substitution T A downstream_gene_variant PACA-CA 9 33287292 33287292 single base substitution A G upstream_gene_variant PACA-CA 9 33296721 33296721 insertion of <=200bp - G intron_variant PACA-CA 9 33297581 33297581 single base substitution G T intron_variant PACA-CA 9 33303847 33303847 single base substitution C T intron_variant PACA-CA 9 33305244 33305244 deletion of <=200bp T - intron_variant PACA-CA 9 33308180 33308193 deletion of <=200bp CTATAATCCCAACA - intron_variant PACA-CA 9 33308835 33308835 single base substitution G C intron_variant PACA-CA 9 33310827 33310827 single base substitution G A intron_variant PACA-CA 9 33314937 33314937 deletion of <=200bp A - intron_variant PACA-CA 9 33314937 33314937 deletion of <=200bp A - upstream_gene_variant PACA-CA 9 33321948 33321948 single base substitution C G intron_variant PACA-CA 9 33323775 33323775 single base substitution A C intron_variant PACA-CA 9 33325593 33325593 single base substitution C T intron_variant PACA-CA 9 33336705 33336705 single base substitution C A downstream_gene_variant PACA-CA 9 33336705 33336705 single base substitution C A intron_variant PACA-CA 9 33340106 33340106 single base substitution G A intron_variant PACA-CA 9 33340106 33340106 single base substitution G A upstream_gene_variant PACA-CA 9 33341819 33341819 single base substitution A G intron_variant PACA-CA 9 33341819 33341819 single base substitution A G upstream_gene_variant PACA-CA 9 33341842 33341842 single base substitution C T intron_variant PACA-CA 9 33341842 33341842 single base substitution C T upstream_gene_variant PACA-CA 9 33344596 33344596 single base substitution G A intron_variant PACA-CA 9 33348716 33348716 single base substitution C A 3_prime_UTR_variant PACA-CA 9 33348716 33348716 single base substitution C A intron_variant PACA-CA 9 33353458 33353458 single base substitution G A downstream_gene_variant PACA-CA 9 33353458 33353458 single base substitution G A intron_variant PACA-CA 9 33354255 33354255 single base substitution C A downstream_gene_variant PACA-CA 9 33354255 33354255 single base substitution C A intron_variant PACA-CA 9 33355569 33355569 single base substitution A G downstream_gene_variant PACA-CA 9 33355569 33355569 single base substitution A G intron_variant PACA-CA 9 33357686 33357686 single base substitution C T intron_variant PACA-CA 9 33360661 33360661 single base substitution A G intron_variant PACA-CA 9 33360661 33360661 single base substitution A G upstream_gene_variant PACA-CA 9 33365970 33365970 single base substitution G A downstream_gene_variant PACA-CA 9 33365970 33365970 single base substitution G A exon_variant PACA-CA 9 33365970 33365970 single base substitution G A intron_variant PACA-CA 9 33367989 33367994 deletion of <=200bp TGGGAG - downstream_gene_variant PACA-CA 9 33367989 33367994 deletion of <=200bp TGGGAG - intron_variant PACA-CA 9 33370408 33370408 single base substitution G A 3_prime_UTR_variant PACA-CA 9 33370408 33370408 single base substitution G A downstream_gene_variant PACA-CA 9 33372314 33372314 single base substitution G A downstream_gene_variant PACA-CA 9 33373000 33373000 single base substitution A C downstream_gene_variant PACA-CA 9 33374752 33374752 single base substitution C T downstream_gene_variant PAEN-AU 9 33292934 33292934 single base substitution C T intron_variant PAEN-AU 9 33357183 33357183 single base substitution C T intron_variant PAEN-IT 9 33288769 33288769 single base substitution C T upstream_gene_variant PAEN-IT 9 33335724 33335724 single base substitution T C downstream_gene_variant PAEN-IT 9 33335724 33335724 single base substitution T C intron_variant PBCA-DE 9 33302527 33302527 deletion of <=200bp T - intron_variant PBCA-DE 9 33315819 33315819 single base substitution G T intron_variant PBCA-DE 9 33315819 33315819 single base substitution G T upstream_gene_variant PBCA-DE 9 33316677 33316677 single base substitution C A intron_variant PBCA-DE 9 33316677 33316677 single base substitution C A upstream_gene_variant PBCA-DE 9 33317288 33317288 single base substitution G A intron_variant PBCA-DE 9 33317288 33317288 single base substitution G A upstream_gene_variant PBCA-DE 9 33323751 33323751 insertion of <=200bp - A intron_variant PBCA-DE 9 33339669 33339669 single base substitution C T intron_variant PBCA-DE 9 33339669 33339669 single base substitution C T upstream_gene_variant PBCA-DE 9 33340891 33340891 single base substitution C T intron_variant PBCA-DE 9 33340891 33340891 single base substitution C T upstream_gene_variant PBCA-DE 9 33343002 33343002 insertion of <=200bp - GTGTTGTAACTTTAAC intron_variant PBCA-DE 9 33347194 33347194 single base substitution G A intron_variant PBCA-DE 9 33358131 33358131 insertion of <=200bp - T intron_variant PBCA-DE 9 33359322 33359322 single base substitution C T intron_variant PBCA-DE 9 33372998 33372998 single base substitution C A downstream_gene_variant PRAD-CA 9 33290324 33290324 single base substitution G C upstream_gene_variant PRAD-CA 9 33301642 33301642 single base substitution A G intron_variant PRAD-CA 9 33312854 33312854 single base substitution G A intron_variant PRAD-CA 9 33353876 33353876 single base substitution C A downstream_gene_variant PRAD-CA 9 33353876 33353876 single base substitution C A intron_variant PRAD-CA 9 33363037 33363037 single base substitution A G intron_variant PRAD-CA 9 33363037 33363037 single base substitution A G upstream_gene_variant PRAD-UK 9 33302061 33302061 single base substitution C T intron_variant PRAD-UK 9 33350305 33350305 single base substitution A C downstream_gene_variant PRAD-UK 9 33350305 33350305 single base substitution A C intron_variant PRAD-UK 9 33350896 33350896 single base substitution C T downstream_gene_variant PRAD-UK 9 33350896 33350896 single base substitution C T intron_variant PRAD-UK 9 33353198 33353198 single base substitution G T downstream_gene_variant PRAD-UK 9 33353198 33353198 single base substitution G T intron_variant PRAD-UK 9 33358089 33358089 single base substitution A G intron_variant PRAD-UK 9 33362347 33362347 single base substitution A G intron_variant PRAD-UK 9 33362347 33362347 single base substitution A G upstream_gene_variant PRAD-UK 9 33370184 33370184 single base substitution T C 3_prime_UTR_variant PRAD-UK 9 33370184 33370184 single base substitution T C downstream_gene_variant READ-US 9 33294647 33294647 single base substitution G A synonymous_variant T85T 255G>A READ-US 9 33295286 33295286 single base substitution G T missense_variant E298D 894G>T READ-US 9 33354175 33354175 single base substitution C A downstream_gene_variant READ-US 9 33354175 33354175 single base substitution C A missense_variant H941N 2821C>A RECA-EU 9 33286278 33286278 single base substitution T C upstream_gene_variant RECA-EU 9 33296247 33296247 single base substitution C T intron_variant RECA-EU 9 33300023 33300023 single base substitution G T intron_variant RECA-EU 9 33300565 33300565 single base substitution G T intron_variant RECA-EU 9 33318701 33318701 single base substitution G A intron_variant RECA-EU 9 33318701 33318701 single base substitution G A upstream_gene_variant RECA-EU 9 33324695 33324695 single base substitution G A intron_variant RECA-EU 9 33329115 33329115 single base substitution A G intron_variant RECA-EU 9 33329281 33329281 single base substitution T A intron_variant RECA-EU 9 33333405 33333405 single base substitution T A downstream_gene_variant RECA-EU 9 33333405 33333405 single base substitution T A intron_variant RECA-EU 9 33335230 33335230 single base substitution T C downstream_gene_variant RECA-EU 9 33335230 33335230 single base substitution T C intron_variant RECA-EU 9 33338892 33338892 single base substitution G A intron_variant RECA-EU 9 33338892 33338892 single base substitution G A upstream_gene_variant RECA-EU 9 33338893 33338893 single base substitution C T intron_variant RECA-EU 9 33338893 33338893 single base substitution C T upstream_gene_variant RECA-EU 9 33350644 33350644 single base substitution A G downstream_gene_variant RECA-EU 9 33350644 33350644 single base substitution A G intron_variant RECA-EU 9 33365318 33365318 single base substitution T A downstream_gene_variant RECA-EU 9 33365318 33365318 single base substitution T A exon_variant RECA-EU 9 33365318 33365318 single base substitution T A intron_variant RECA-EU 9 33374671 33374671 single base substitution T C downstream_gene_variant SKCA-BR 9 33285745 33285745 single base substitution A G upstream_gene_variant SKCA-BR 9 33288803 33288803 single base substitution A C upstream_gene_variant SKCA-BR 9 33289891 33289891 single base substitution T C upstream_gene_variant SKCA-BR 9 33292271 33292271 single base substitution C T intron_variant SKCA-BR 9 33296730 33296730 single base substitution A G intron_variant SKCA-BR 9 33299104 33299104 single base substitution C T intron_variant SKCA-BR 9 33300672 33300672 single base substitution G A intron_variant SKCA-BR 9 33302675 33302675 insertion of <=200bp - GT intron_variant SKCA-BR 9 33315795 33315795 single base substitution T G intron_variant SKCA-BR 9 33315795 33315795 single base substitution T G upstream_gene_variant SKCA-BR 9 33318507 33318507 single base substitution T A intron_variant SKCA-BR 9 33318507 33318507 single base substitution T A upstream_gene_variant SKCA-BR 9 33318825 33318825 single base substitution G T missense_variant G562V 1685G>T SKCA-BR 9 33318825 33318825 single base substitution G T upstream_gene_variant SKCA-BR 9 33319556 33319556 single base substitution C T intron_variant SKCA-BR 9 33322933 33322933 single base substitution A G intron_variant SKCA-BR 9 33323762 33323762 single base substitution C A intron_variant SKCA-BR 9 33329027 33329027 single base substitution G A intron_variant SKCA-BR 9 33329369 33329369 single base substitution G C intron_variant SKCA-BR 9 33334643 33334643 single base substitution C T downstream_gene_variant SKCA-BR 9 33334643 33334643 single base substitution C T intron_variant SKCA-BR 9 33335716 33335716 single base substitution C T downstream_gene_variant SKCA-BR 9 33335716 33335716 single base substitution C T intron_variant SKCA-BR 9 33335717 33335717 single base substitution C T downstream_gene_variant SKCA-BR 9 33335717 33335717 single base substitution C T intron_variant SKCA-BR 9 33336014 33336014 single base substitution C T downstream_gene_variant SKCA-BR 9 33336014 33336014 single base substitution C T intron_variant SKCA-BR 9 33346107 33346107 single base substitution C T intron_variant SKCA-BR 9 33347419 33347419 single base substitution C T intron_variant SKCA-BR 9 33348437 33348437 single base substitution A T 3_prime_UTR_variant SKCA-BR 9 33348437 33348437 single base substitution A T intron_variant SKCA-BR 9 33349082 33349082 single base substitution C T downstream_gene_variant SKCA-BR 9 33349082 33349082 single base substitution C T intron_variant SKCA-BR 9 33351210 33351210 single base substitution C T downstream_gene_variant SKCA-BR 9 33351210 33351210 single base substitution C T intron_variant SKCA-BR 9 33351462 33351462 single base substitution A C downstream_gene_variant SKCA-BR 9 33351462 33351462 single base substitution A C intron_variant SKCA-BR 9 33351740 33351740 single base substitution A C downstream_gene_variant SKCA-BR 9 33351740 33351740 single base substitution A C exon_variant SKCA-BR 9 33351740 33351740 single base substitution A C synonymous_variant A869A 2607A>C SKCA-BR 9 33354646 33354646 single base substitution C T downstream_gene_variant SKCA-BR 9 33354646 33354646 single base substitution C T intron_variant SKCA-BR 9 33355196 33355196 single base substitution G A downstream_gene_variant SKCA-BR 9 33355196 33355196 single base substitution G A intron_variant SKCA-BR 9 33355197 33355197 single base substitution T A downstream_gene_variant SKCA-BR 9 33355197 33355197 single base substitution T A intron_variant SKCA-BR 9 33355339 33355339 single base substitution G C downstream_gene_variant SKCA-BR 9 33355339 33355339 single base substitution G C intron_variant SKCA-BR 9 33355638 33355639 deletion of <=200bp TC - downstream_gene_variant SKCA-BR 9 33355638 33355639 deletion of <=200bp TC - intron_variant SKCA-BR 9 33356989 33356989 insertion of <=200bp - CA intron_variant SKCA-BR 9 33361946 33361946 single base substitution C A intron_variant SKCA-BR 9 33361946 33361946 single base substitution C A upstream_gene_variant SKCA-BR 9 33361947 33361947 single base substitution C T intron_variant SKCA-BR 9 33361947 33361947 single base substitution C T upstream_gene_variant SKCA-BR 9 33363261 33363261 insertion of <=200bp - GTATTATTAT intron_variant SKCA-BR 9 33363261 33363261 insertion of <=200bp - GTATTATTAT upstream_gene_variant SKCA-BR 9 33369072 33369072 single base substitution C T downstream_gene_variant SKCA-BR 9 33369072 33369072 single base substitution C T intron_variant SKCA-BR 9 33372207 33372207 single base substitution C T downstream_gene_variant SKCA-BR 9 33372538 33372538 single base substitution C T downstream_gene_variant SKCA-BR 9 33372539 33372539 single base substitution C T downstream_gene_variant SKCA-BR 9 33374027 33374027 single base substitution A T downstream_gene_variant SKCA-BR 9 33374028 33374028 single base substitution C T downstream_gene_variant SKCA-BR 9 33376007 33376007 single base substitution A G downstream_gene_variant SKCM-US 9 33294597 33294597 single base substitution C T missense_variant H69Y 205C>T SKCM-US 9 33294735 33294735 single base substitution C A missense_variant H115N 343C>A SKCM-US 9 33295248 33295248 single base substitution C T missense_variant L286F 856C>T SKCM-US 9 33311115 33311115 single base substitution C T missense_variant P463L 1388C>T SKCM-US 9 33311157 33311157 single base substitution G C missense_variant C477S 1430G>C SKCM-US 9 33328583 33328583 single base substitution C T exon_variant SKCM-US 9 33328583 33328583 single base substitution C T synonymous_variant F637F 1911C>T SKCM-US 9 33342786 33342786 single base substitution C T missense_variant R720C 2158C>T SKCM-US 9 33342786 33342786 single base substitution C T upstream_gene_variant SKCM-US 9 33344120 33344120 single base substitution C T exon_variant SKCM-US 9 33344120 33344120 single base substitution C T missense_variant P760S 2278C>T SKCM-US 9 33351567 33351567 single base substitution A C downstream_gene_variant SKCM-US 9 33351567 33351567 single base substitution A C exon_variant SKCM-US 9 33351567 33351567 single base substitution A C missense_variant N812H 2434A>C SKCM-US 9 33352709 33352709 single base substitution T C downstream_gene_variant SKCM-US 9 33352709 33352709 single base substitution T C synonymous_variant T907T 2721T>C SKCM-US 9 33354888 33354888 single base substitution A G downstream_gene_variant SKCM-US 9 33354888 33354888 single base substitution A G splice_region_variant SKCM-US 9 33364754 33364754 single base substitution C T synonymous_variant L1007L 3021C>T SKCM-US 9 33364754 33364754 single base substitution C T upstream_gene_variant SKCM-US 9 33366686 33366686 single base substitution C T downstream_gene_variant SKCM-US 9 33366686 33366686 single base substitution C T exon_variant SKCM-US 9 33366686 33366686 single base substitution C T synonymous_variant I1033I 3099C>T SKCM-US 9 33366735 33366736 deletion of <=200bp AG - downstream_gene_variant SKCM-US 9 33366735 33366736 deletion of <=200bp AG - exon_variant SKCM-US 9 33366735 33366736 deletion of <=200bp AG - frameshift_variant S1050 STAD-US 9 33294465 33294465 deletion of <=200bp A - frameshift_variant K25 STAD-US 9 33294844 33294846 deletion of <=200bp CTT - inframe_deletion PS151P STAD-US 9 33294870 33294870 single base substitution G A missense_variant G160S 478G>A STAD-US 9 33294992 33294992 single base substitution G A synonymous_variant P200P 600G>A STAD-US 9 33295421 33295421 single base substitution C T synonymous_variant H343H 1029C>T STAD-US 9 33307203 33307203 single base substitution A C missense_variant N428H 1282A>C STAD-US 9 33318813 33318813 single base substitution T C missense_variant L558S 1673T>C STAD-US 9 33318813 33318813 single base substitution T C upstream_gene_variant STAD-US 9 33351731 33351731 single base substitution G A downstream_gene_variant STAD-US 9 33351731 33351731 single base substitution G A exon_variant STAD-US 9 33351731 33351731 single base substitution G A synonymous_variant P866P 2598G>A STAD-US 9 33369964 33369964 single base substitution C T downstream_gene_variant STAD-US 9 33369964 33369964 single base substitution C T synonymous_variant D1117D 3351C>T THCA-SA 9 33351740 33351740 single base substitution A C downstream_gene_variant THCA-SA 9 33351740 33351740 single base substitution A C exon_variant THCA-SA 9 33351740 33351740 single base substitution A C synonymous_variant A869A 2607A>C THCA-US 9 33294604 33294604 single base substitution A G missense_variant H71R 212A>G UCEC-US 9 33294587 33294587 single base substitution C A synonymous_variant I65I 195C>A UCEC-US 9 33294867 33294867 single base substitution G A missense_variant V159M 475G>A UCEC-US 9 33295129 33295129 single base substitution C A missense_variant P246H 737C>A UCEC-US 9 33295189 33295189 single base substitution G T missense_variant G266V 797G>T UCEC-US 9 33303215 33303215 single base substitution G A missense_variant A407T 1219G>A UCEC-US 9 33318792 33318792 single base substitution G T missense_variant G551V 1652G>T UCEC-US 9 33318792 33318792 single base substitution G T upstream_gene_variant UCEC-US 9 33318921 33318921 single base substitution G A missense_variant G568S 1702G>A UCEC-US 9 33318921 33318921 single base substitution G A upstream_gene_variant UCEC-US 9 33319099 33319099 single base substitution G A exon_variant UCEC-US 9 33319099 33319099 single base substitution G A missense_variant G627D 1880G>A UCEC-US 9 33338510 33338510 single base substitution G A missense_variant A680T 2038G>A UCEC-US 9 33338510 33338510 single base substitution G A upstream_gene_variant UCEC-US 9 33338547 33338547 single base substitution G A missense_variant R692Q 2075G>A UCEC-US 9 33338547 33338547 single base substitution G A upstream_gene_variant UCEC-US 9 33342822 33342822 single base substitution C T exon_variant UCEC-US 9 33342822 33342822 single base substitution C T missense_variant R732C 2194C>T UCEC-US 9 33344086 33344086 single base substitution C T exon_variant UCEC-US 9 33344086 33344086 single base substitution C T synonymous_variant C748C 2244C>T UCEC-US 9 33344158 33344158 single base substitution C T exon_variant UCEC-US 9 33344158 33344158 single base substitution C T synonymous_variant C772C 2316C>T UCEC-US 9 33347103 33347103 deletion of <=200bp G - exon_variant UCEC-US 9 33347103 33347103 deletion of <=200bp G - frameshift_variant M804 UCEC-US 9 33351597 33351597 single base substitution T C downstream_gene_variant UCEC-US 9 33351597 33351597 single base substitution T C exon_variant UCEC-US 9 33351597 33351597 single base substitution T C missense_variant C822R 2464T>C UCEC-US 9 33364060 33364060 single base substitution C T missense_variant R976C 2926C>T UCEC-US 9 33364060 33364060 single base substitution C T upstream_gene_variant UCEC-US 9 33364781 33364781 single base substitution C T intron_variant UCEC-US 9 33364781 33364781 single base substitution C T synonymous_variant V1016V 3048C>T UCEC-US 9 33364781 33364781 single base substitution C T upstream_gene_variant UCEC-US 9 33366637 33366637 single base substitution G T downstream_gene_variant UCEC-US 9 33366637 33366637 single base substitution G T exon_variant UCEC-US 9 33366637 33366637 single base substitution G T missense_variant S1017I 3050G>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand sysucc-444T COSM5765717 c.3164A>G p.N1055S Substitution - Missense 9:33366753-33366753 + DLD1 COSM4626429 c.2305A>G p.T769A Substitution - Missense 9:33344149-33344149 + TCGA-DD-A39Y-01 COSM4934522 c.1026G>A p.T342T Substitution - coding silent 9:33295420-33295420 + TCGA-GF-A6C9-06 COSM4901796 c.2158C>T p.R720C Substitution - Missense 9:33342788-33342788 + TCGA-HU-8608-01 COSM3906893 c.1282A>C p.N428H Substitution - Missense 9:33307205-33307205 + HN_62415 COSM121306 c.2733A>T p.I911I Substitution - coding silent 9:33354089-33354089 + 1890203 COSM1236732 c.1390G>A p.G464R Substitution - Missense 9:33311119-33311119 + ESCC-159T COSM3943009 c.3271C>T p.H1091Y Substitution - Missense 9:33367600-33367600 + DLBCL799 COSM1581312 c.1892C>G p.P631R Substitution - Missense 9:33319113-33319113 + TCGA-EI-6917-01 COSM3433095 c.255G>A p.T85T Substitution - coding silent 9:33294649-33294649 + HCC014T COSM5814315 c.1720C>A p.Q574K Substitution - Missense 9:33318941-33318941 + ESO-152 COSM1259076 c.2465G>A p.C822Y Substitution - Missense 9:33351600-33351600 + TCGA-06-0184-01 COSM2150464 c.365A>C p.Q122P Substitution - Missense 9:33294759-33294759 + LUAD-S01345 COSM397379 c.284C>T p.S95L Substitution - Missense 9:33294678-33294678 + HCC141T COSM1624909 c.870A>G p.P290P Substitution - coding silent 9:33295264-33295264 + HT115 COSM2772508 c.35A>C p.K12T Substitution - Missense 9:33294429-33294429 + TCGA-EE-A29E-06 COSM3656928 c.3099C>T p.I1033I Substitution - coding silent 9:33366688-33366688 + 41T COSM3734087 c.3332C>G p.P1111R Substitution - Missense 9:33369947-33369947 + TCGA-06-0184 COSM2150464 c.365A>C p.Q122P Substitution - Missense 9:33294759-33294759 + TCGA-LP-A4AW-01 COSM4829702 c.3113C>T p.A1038V Substitution - Missense 9:33366702-33366702 + HCC99 COSM3664305 c.876A>G p.K292K Substitution - coding silent 9:33295270-33295270 + TCGA-BS-A0U8-01 COSM1108323 c.2464T>C p.C822R Substitution - Missense 9:33351599-33351599 + B43-Tumor COSM1497073 c.2218C>A p.Q740K Substitution - Missense 9:33342848-33342848 + TCGA-DA-A3F5-06 COSM3656926 c.2871A>G p.K957K Substitution - coding silent 9:33354890-33354890 + HT55 COSM2772538 c.1573A>C p.I525L Substitution - Missense 9:33313778-33313778 + 587222 COSM1217249 c.2684G>T p.R895I Substitution - Missense 9:33352674-33352674 + RCK8 COSM1581315 c.2357G>T p.C786F Substitution - Missense 9:33347050-33347050 + ESCC_17 COSM5626001 c.1394C>T p.P465L Substitution - Missense 9:33311123-33311123 + PTC_135 COSM1489938 c.2607A>C p.A869A Substitution - coding silent 9:33351742-33351742 + J52_T COSM3952661 c.2224+5G>T p.? Unknown 9:33342859-33342859 + TCGA-B0-5695-01 COSM487381 c.2617A>G p.T873A Substitution - Missense 9:33351752-33351752 + TCGA-EE-A2M5-06 COSM3656915 c.856C>T p.L286F Substitution - Missense 9:33295250-33295250 + TCGA-BR-4362-01 COSM3906887 c.1029C>T p.H343H Substitution - coding silent 9:33295423-33295423 + PD5155a COSM185887 c.1834C>T p.R612W Substitution - Missense 9:33319055-33319055 + TCGA-14-1823-01 COSM3413604 c.2598G>A p.P866P Substitution - coding silent 9:33351733-33351733 + LIM2405 COSM4643341 c.299G>A p.G100D Substitution - Missense 9:33294693-33294693 + ESO-874 COSM1259078 c.1569C>T p.C523C Substitution - coding silent 9:33313774-33313774 + TCGA-A6-6781-01 COSM1462066 c.224C>T p.P75L Substitution - Missense 9:33294618-33294618 + TCGA-AK-3429-01 COSM487380 c.2060G>T p.R687L Substitution - Missense 9:33338534-33338534 + EGC3 COSM5063888 c.1638A>G p.V546V Substitution - coding silent 9:33318780-33318780 + ESO-640 COSM1259077 c.2681G>A p.R894Q Substitution - Missense 9:33352671-33352671 + T3306 COSM4706780 c.243G>C p.K81N Substitution - Missense 9:33294637-33294637 + LUAD-S01345 COSM397380 c.1200G>C p.Q400H Substitution - Missense 9:33303198-33303198 + T3021 COSM2772539 c.1600G>A p.G534S Substitution - Missense 9:33318742-33318742 + ESCC-008T COSM3943007 c.1344G>A p.Q448Q Substitution - coding silent 9:33307267-33307267 + 3101B7_032_T COSM5043324 c.177G>T p.Q59H Substitution - Missense 9:33294571-33294571 + YUZINO COSM1701041 c.220C>T p.H74Y Substitution - Missense 9:33294614-33294614 + pfg019T COSM1643814 c.3039+6A>G p.? Unknown 9:33364780-33364780 + pfg167T COSM4752407 c.2060G>A p.R687Q Substitution - Missense 9:33338534-33338534 + SH-0622 COSM5018839 c.2831+2delT p.? Unknown 9:33354189-33354189 + T2269 COSM1217248 c.704G>A p.R235Q Substitution - Missense 9:33295098-33295098 + TCGA-04-1338-01 COSM78169 c.1559G>A p.C520Y Substitution - Missense 9:33313764-33313764 + TCGA-37-5819-01 COSM753607 c.2331G>T p.E777D Substitution - Missense 9:33344175-33344175 + WSU-NHL COSM1581313 c.2051G>A p.C684Y Substitution - Missense 9:33338525-33338525 + HCC028T COSM5807655 c.833T>A p.M278K Substitution - Missense 9:33295227-33295227 + TCGA-AP-A0LM-01 COSM1108315 c.1702G>A p.G568S Substitution - Missense 9:33318923-33318923 + TCGA-D3-A5GU-06 COSM3656923 c.2278C>T p.P760S Substitution - Missense 9:33344122-33344122 + TCGA-BS-A0UV-01 COSM1108327 c.3050G>T p.S1017I Substitution - Missense 9:33366639-33366639 + YUBER COSM1701043 c.3074C>T p.P1025L Substitution - Missense 9:33366663-33366663 + ME009T COSM223325 c.1607C>T p.T536I Substitution - Missense 9:33318749-33318749 + LS411 COSM2772515 c.951A>G p.V317V Substitution - coding silent 9:33295345-33295345 + TCGA-DK-A2I6-01 COSM1314770 c.3115C>A p.Q1039K Substitution - Missense 9:33366704-33366704 + TCGA-AG-A032-01 COSM265498 c.1427C>A p.T476K Substitution - Missense 9:33311156-33311156 + STC297 COSM5063890 c.1761delC p.Q589fs*17 Deletion - Frameshift 9:33318982-33318982 + BK0073 COSM4188573 c.1010T>C p.L337P Substitution - Missense 9:33295404-33295404 + TCGA-A2-A0T5-01 COSM3848350 c.2625A>C p.S875S Substitution - coding silent 9:33351760-33351760 + TCGA-AP-A059-01 COSM1108317 c.2038G>A p.A680T Substitution - Missense 9:33338512-33338512 + YULAN COSM1701042 c.1096C>T p.R366C Substitution - Missense 9:33301325-33301325 + SNUH_G09_S1 COSM3982820 c.1584C>G p.N528K Substitution - Missense 9:33313789-33313789 + TCGA-29-1777-01 COSM1331576 c.631G>T p.V211L Substitution - Missense 9:33295025-33295025 + SNU-C2B COSM2772544 c.1935C>T p.C645C Substitution - coding silent 9:33328609-33328609 + TCGA-BR-4368-01 COSM3413604 c.2598G>A p.P866P Substitution - coding silent 9:33351733-33351733 + Pat_31_B COSM5876125 c.1552G>A p.G518S Substitution - Missense 9:33313757-33313757 + T204 COSM4706783 c.1442G>A p.R481Q Substitution - Missense 9:33311171-33311171 + TCGA-D8-A1JA-01 COSM3848346 c.1911C>G p.F637L Substitution - Missense 9:33328585-33328585 + TCGA-CC-A3MB-01 COSM4933680 c.2603T>C p.M868T Substitution - Missense 9:33351738-33351738 + DLBCL787 COSM1581314 c.2130G>T p.K710N Substitution - Missense 9:33342760-33342760 + PD7219a COSM5775154 c.677G>C p.G226A Substitution - Missense 9:33295071-33295071 + Pat_63_B COSM5876123 c.658G>A p.E220K Substitution - Missense 9:33295052-33295052 + AOCS-080-1-9 COSM4152252 c.1200G>A p.Q400Q Substitution - coding silent 9:33303198-33303198 + TCGA-18-3406-01 COSM753608 c.1627G>T p.G543* Substitution - Nonsense 9:33318769-33318769 + RH18C COSM1554688 c.3022G>A p.V1008M Substitution - Missense 9:33364757-33364757 + TCGA-FS-A1Z3-06 COSM3656927 c.3021C>T p.L1007L Substitution - coding silent 9:33364756-33364756 + TCGA-EE-A29M-06 COSM3656924 c.2434A>C p.N812H Substitution - Missense 9:33351569-33351569 + TCGA-DK-A2HX-01 COSM1314769 c.2179G>A p.E727K Substitution - Missense 9:33342809-33342809 + TCGA-D8-A1JM-01 COSM1489939 c.2948G>T p.S983I Substitution - Missense 9:33364084-33364084 + LC_C27 COSM1187699 c.410C>T p.S137L Substitution - Missense 9:33294804-33294804 + sysucc-783T COSM5485077 c.1067A>G p.Y356C Substitution - Missense 9:33301296-33301296 + TCGA-EE-A2M7-06 COSM3656922 c.1911C>T p.F637F Substitution - coding silent 9:33328585-33328585 + TCGA-BR-7707-01 COSM3906883 c.478G>A p.G160S Substitution - Missense 9:33294872-33294872 + B43 COSM1497073 c.2218C>A p.Q740K Substitution - Missense 9:33342848-33342848 + PD24215a COSM5787365 c.375T>A p.A125A Substitution - coding silent 9:33294769-33294769 + TCGA-BK-A0CC-01 COSM1108324 c.2824C>G p.Q942E Substitution - Missense 9:33354180-33354180 + TCGA-B5-A11E-01 COSM1108325 c.2926C>T p.R976C Substitution - Missense 9:33364062-33364062 + TCGA-AA-A00N-01 COSM276332 c.2725C>T p.Q909* Substitution - Nonsense 9:33352715-33352715 + TCGA-AX-A05S-01 COSM1108322 c.2412delG p.G805fs*75 Deletion - Frameshift 9:33347105-33347105 + TCGA-B0-5702-01 COSM487379 c.1589-1G>A p.? Unknown 9:33318730-33318730 + HCC99T COSM3664305 c.876A>G p.K292K Substitution - coding silent 9:33295270-33295270 + Pat_28_B COSM5876127 c.1954C>T p.P652S Substitution - Missense 9:33328628-33328628 + TCGA-GN-A26C-01 COSM3656914 c.343C>A p.H115N Substitution - Missense 9:33294737-33294737 + TCGA-EW-A1IZ-01 COSM1489937 c.568T>C p.C190R Substitution - Missense 9:33294962-33294962 + TCGA-AX-A0J1-01 COSM1108318 c.2075G>A p.R692Q Substitution - Missense 9:33338549-33338549 + KM12 COSM2772546 c.1971A>G p.S657S Substitution - coding silent 9:33328645-33328645 + B80 COSM1756128 c.350G>A p.R117K Substitution - Missense 9:33294744-33294744 + TCGA-EE-A183-06 COSM3656921 c.1430G>C p.C477S Substitution - Missense 9:33311159-33311159 + HT115 COSM2772550 c.2159G>A p.R720H Substitution - Missense 9:33342789-33342789 + 41P3 COSM3734087 c.3332C>G p.P1111R Substitution - Missense 9:33369947-33369947 + TCGA-AX-A060-01 COSM1108316 c.1880G>A p.G627D Substitution - Missense 9:33319101-33319101 + WA54 COSM240882 c.2015G>A p.C672Y Substitution - Missense 9:33332482-33332482 + CML027T COSM5802991 c.2724T>C p.Y908Y Substitution - coding silent 9:33352714-33352714 + DLBCL759 COSM1581311 c.1703G>T p.G568V Substitution - Missense 9:33318924-33318924 + TCGA-BS-A0UF-01 COSM1108319 c.2194C>T p.R732C Substitution - Missense 9:33342824-33342824 + RK305_C01 COSM4943789 c.1109C>G p.P370R Substitution - Missense 9:33301338-33301338 + TCGA-D1-A15X-01 COSM1108321 c.2316C>T p.C772C Substitution - coding silent 9:33344160-33344160 + TCGA-DG-A2KM-01 COSM4851677 c.3174C>T p.V1058V Substitution - coding silent 9:33366763-33366763 + TCGA-AB-2805-03 COSM1319608 c.802C>T p.R268* Substitution - Nonsense 9:33295196-33295196 + PT35 COSM5912930 c.1792C>T p.Q598* Substitution - Nonsense 9:33319013-33319013 + YUKAT COSM5410994 c.1891_1892CC>TT p.P631F Substitution - Missense 9:33319112-33319113 + S02403 COSM5700597 c.3151G>A p.E1051K Substitution - Missense 9:33366740-33366740 + PD4875a COSM5785076 c.1367C>T p.S456F Substitution - Missense 9:33307290-33307290 + HCC006T COSM5803394 c.1448+4A>C p.? Unknown 9:33311181-33311181 + sysucc-311T COSM5467679 c.584G>A p.R195Q Substitution - Missense 9:33294978-33294978 + TCGA-D1-A103-01 COSM1108309 c.737C>A p.P246H Substitution - Missense 9:33295131-33295131 + TCGA-A3-3326-01 COSM1497073 c.2218C>A p.Q740K Substitution - Missense 9:33342848-33342848 + B80-Tumor COSM1756128 c.350G>A p.R117K Substitution - Missense 9:33294744-33294744 + TCGA-BR-4362-01 COSM3906895 c.1673T>C p.L558S Substitution - Missense 9:33318815-33318815 + TCGA-B5-A11E-01 COSM1108314 c.1652G>T p.G551V Substitution - Missense 9:33318794-33318794 + RK126_C01 COSM1636161 c.2424+4A>C p.? Unknown 9:33347121-33347121 + TCGA-AP-A0LM-01 COSM1108326 c.3039+9C>T p.? Unknown 9:33364783-33364783 + DLBCL1051 COSM1581310 c.1103C>T p.T368M Substitution - Missense 9:33301332-33301332 + J30_T COSM3952659 c.821A>G p.H274R Substitution - Missense 9:33295215-33295215 + DLD1 COSM4626427 c.1471G>A p.A491T Substitution - Missense 9:33313676-33313676 + sysucc-723T COSM5763989 c.2730-9A>T p.? Unknown 9:33354077-33354077 + TCGA-AP-A051-01 COSM1108310 c.797G>T p.G266V Substitution - Missense 9:33295191-33295191 + TCGA-CD-A4MI-01 COSM3906885 c.600G>A p.P200P Substitution - coding silent 9:33294994-33294994 + TCGA-FW-A3R5-06 COSM3926694 c.205C>T p.H69Y Substitution - Missense 9:33294599-33294599 + SC_9028 COSM5553451 c.1326G>C p.E442D Substitution - Missense 9:33307249-33307249 + TCGA-AA-3542-01 COSM292051 c.1538A>T p.E513V Substitution - Missense 9:33313743-33313743 + ESO-0115 COSM1259074 c.701G>C p.R234T Substitution - Missense 9:33295095-33295095 + MD-281 COSM302746 c.223C>T p.P75S Substitution - Missense 9:33294617-33294617 + TCGA-DJ-A2PO-01 COSM3375228 c.212A>G p.H71R Substitution - Missense 9:33294606-33294606 + cSCCP6 COSM136708 c.3070C>T p.P1024S Substitution - Missense 9:33366659-33366659 + HCC027T COSM5811793 c.655T>G p.S219A Substitution - Missense 9:33295049-33295049 + TCGA-AG-A002-01 COSM262401 c.1014G>T p.K338N Substitution - Missense 9:33295408-33295408 + RMH004-R3 COSM4411323 c.616G>A p.E206K Substitution - Missense 9:33295010-33295010 + 395 COSM397380 c.1200G>C p.Q400H Substitution - Missense 9:33303198-33303198 + 034T COSM1728617 c.1547A>T p.H516L Substitution - Missense 9:33313752-33313752 + TCGA-EI-6917-01 COSM3433097 c.2821C>A p.H941N Substitution - Missense 9:33354177-33354177 + TCGA-F4-6570-01 COSM1108325 c.2926C>T p.R976C Substitution - Missense 9:33364062-33364062 + YUBER COSM1701040 c.65C>T p.P22L Substitution - Missense 9:33294459-33294459 + 587376 COSM1217251 c.2092A>C p.K698Q Substitution - Missense 9:33338566-33338566 + RK086_C01 COSM1636163 c.3013G>T p.E1005* Substitution - Nonsense 9:33364748-33364748 + ATL030 COSM5711292 c.3031G>A p.V1011M Substitution - Missense 9:33364766-33364766 + TCGA-EI-6917-01 COSM3433096 c.894G>T p.E298D Substitution - Missense 9:33295288-33295288 + ESO-0590 COSM1259075 c.1909T>G p.F637V Substitution - Missense 9:33328583-33328583 + C086 COSM5535379 c.740C>T p.P247L Substitution - Missense 9:33295134-33295134 + SNUH_G16_S1 COSM3685588 c.682T>A p.L228M Substitution - Missense 9:33295076-33295076 + TCGA-DD-A113-01 COSM4925134 c.2562G>A p.Q854Q Substitution - coding silent 9:33351697-33351697 + 587222 COSM1217248 c.704G>A p.R235Q Substitution - Missense 9:33295098-33295098 + PR-00-1165 COSM246027 c.2424+2T>A p.? Unknown 9:33347119-33347119 + 587278 COSM1217250 c.2226T>A p.S742R Substitution - Missense 9:33344070-33344070 + TCGA-AP-A059-01 COSM1108308 c.475G>A p.V159M Substitution - Missense 9:33294869-33294869 + PT21_2 COSM5901610 c.181C>T p.P61S Substitution - Missense 9:33294575-33294575 + Pat_59_A COSM2772539 c.1600G>A p.G534S Substitution - Missense 9:33318742-33318742 + TCGA-BS-A0UF-01 COSM1108307 c.195C>A p.I65I Substitution - coding silent 9:33294589-33294589 + CSCC-46-T COSM4563774 c.989G>A p.R330Q Substitution - Missense 9:33295383-33295383 + TCGA-B5-A11H-01 COSM1108320 c.2244C>T p.C748C Substitution - coding silent 9:33344088-33344088 + TCGA-GN-A266-06 COSM3656925 c.2721T>C p.T907T Substitution - coding silent 9:33352711-33352711 + TCGA-EK-A3GK-01 COSM4853983 c.2350C>G p.H784D Substitution - Missense 9:33347043-33347043 + TCGA-AA-3713-01 COSM1462067 c.1196G>A p.G399D Substitution - Missense 9:33303194-33303194 + RK086_C01 COSM1636162 c.3012G>T p.M1004I Substitution - Missense 9:33364747-33364747 + TCGA-DK-A3IU-01 COSM3779955 c.1478C>T p.S493L Substitution - Missense 9:33313683-33313683 + HCC141 COSM1624909 c.870A>G p.P290P Substitution - coding silent 9:33295264-33295264 + TCGA-A7-A5ZV-01 COSM3848348 c.2240C>T p.T747I Substitution - Missense 9:33344084-33344084 + 2293782 COSM4609454 c.2217G>T p.W739C Substitution - Missense 9:33342847-33342847 + TCGA-G2-A2EL-01 COSM1314768 c.421G>C p.E141Q Substitution - Missense 9:33294815-33294815 + Pat_45_B COSM5876121 c.545C>A p.P182Q Substitution - Missense 9:33294939-33294939 + TCGA-BR-4361-01 COSM3906897 c.3351C>T p.D1117D Substitution - coding silent 9:33369966-33369966 + 587376 COSM1217252 c.2944T>G p.F982V Substitution - Missense 9:33364080-33364080 + CSCC-20-T COSM4503556 c.642C>T p.F214F Substitution - coding silent 9:33295036-33295036 + TCGA-EE-A2A2-06 COSM3656920 c.1388C>T p.P463L Substitution - Missense 9:33311117-33311117 + 8058303 COSM3780736 c.1404C>A p.P468P Substitution - coding silent 9:33311133-33311133 + TCGA-DB-A64X-01 COSM3930023 c.1433A>G p.E478G Substitution - Missense 9:33311162-33311162 + TCGA-D1-A167-01 COSM1108311 c.1219G>A p.A407T Substitution - Missense 9:33303217-33303217 + S01746 COSM4386944 c.3094C>G p.R1032G Substitution - Missense 9:33366683-33366683 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.413049;Hs.413061;Hs.413074 9p13.3 603255

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.E903D c.2709A>C 9 33352697 STAD A C Missense p.N812H c.2434A>C 9 33351567 CM A C Missense p.Q122P c.365A>C 9 33294757 GBM AG - Frameshift p.S1050*fs*1 c.3148_3149delAG 9 33366735 CM A G IntronicSNV . c.3039+6A>G 9 33364778 STAD A G Missense p.D1120G c.3359A>G 9 33369972 LUAD A G Missense p.T873A c.2617A>G 9 33351750 RCCC A G Synonymous p.K957K c.2871A>G 9 33354888 CM A T Missense p.E513V c.1538A>T 9 33313741 COREAD A T Synonymous p.I911I c.2733A>T 9 33354087 HNSC C A Missense p.H115N c.343C>A 9 33294735 CM C A Missense p.Q1039K c.3115C>A 9 33366702 BLCA C A Missense p.T476K c.1427C>A 9 33311154 COREAD C G IntronicSNV . c.3039+297C>G 9 33365069 HC C G Missense p.P52A c.154C>G 9 33294546 BRCA C G Missense p.Q942E c.2824C>G 9 33354178 UCEC C - IntronicDeletion . c.2035+31delC 9 33332531 STAD C T IntronicSNV . c.1907-2220C>T 9 33326359 CLL C T Missense p.L286F c.856C>T 9 33295248 CM C T Missense p.P463L c.1388C>T 9 33311115 CM C T Missense p.P588S c.1762C>T 9 33318981 CM C T Missense p.S493L c.1478C>T 9 33313681 BLCA C T Missense p.T536I c.1607C>T 9 33318747 CM C T Synonymous p.C523C c.1569C>T 9 33313772 ESCA C T Synonymous p.C748C c.2244C>T 9 33344086 UCEC C T Synonymous p.F637F c.1911C>T 9 33328583 CM C T Synonymous p.L1007L c.3021C>T 9 33364754 CM G A IntronicSNV . c.2425-980G>A 9 33350578 CLL G A Missense p.C520Y c.1559G>A 9 33313762 OV G A Missense p.C822Y c.2465G>A 9 33351598 ESCA G A Missense p.E727K c.2179G>A 9 33342807 BLCA G A Missense p.G627D c.1880G>A 9 33319099 UCEC G A Missense p.R894Q c.2681G>A 9 33352669 ESCA G A Synonymous p.L986L c.2958G>A 9 33364092 CM G A Synonymous p.P866P c.2598G>A 9 33351731 GBM G A Synonymous p.P866P c.2598G>A 9 33351731 STAD G C Missense p.C477S c.1430G>C 9 33311157 CM G C Missense p.E141Q c.421G>C 9 33294813 BLCA G C Missense p.R234T c.701G>C 9 33295093 ESCA G - Frameshift p.G805Afs*75 c.2414delG 9 33347103 UCEC G T Missense p.D63Y c.187G>T 9 33294579 CM G T Missense p.E777D c.2331G>T 9 33344173 LUSC G T Missense p.M1004I c.3012G>T 9 33364745 HC G T Missense p.S983I c.2948G>T 9 33364082 BRCA G T Nonsense p.E1005* c.3013G>T 9 33364746 HC G T Nonsense p.G543* c.1627G>T 9 33318767 LUSC T A Missense p.L719H c.2156T>A 9 33342784 CM T A Missense p.N27K c.81T>A 9 33294473 HNSC T C Missense p.C822R c.2464T>C 9 33351597 UCEC T G 3-UTRSNV . c.3360+284T>G 9 33370257 HC T G IntronicSNV . c.2873+1085T>G 9 33355975 CLL T G Missense p.F637V c.1909T>G 9 33328581 ESCA