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 23 48457331 48457331 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 g.chrX:48457331C>T c.268C>T c.(268-270)Ctt>Ttt p.L90F BLCA 23 48458084 48458084 + Missense_Mutation SNP G G C TCGA-E7-A541-01A-11D-A26M-08 TCGA-E7-A541-10A-01D-A26K-08 g.chrX:48458084G>C c.502G>C c.(502-504)Gac>Cac p.D168H BLCA 23 48460204 48460204 + Missense_Mutation SNP G G A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 g.chrX:48460204G>A c.864G>A c.(862-864)atG>atA p.M288I BLCA 23 48460452 48460452 + Splice_Site SNP G G A TCGA-FD-A6TI-01A-11D-A32B-08 TCGA-FD-A6TI-10A-01D-A329-08 g.chrX:48460452G>A c.e7-1 BLCA 23 48460562 48460562 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 g.chrX:48460562C>T c.1122C>T c.(1120-1122)atC>atT p.I374I BRCA 23 48457210 48457210 + Silent SNP G G A TCGA-A8-A09W-01A-11W-A019-09 TCGA-A8-A09W-10A-01W-A021-09 g.chrX:48457210G>A c.147G>A c.(145-147)gcG>gcA p.A49A BRCA 23 48457777 48457777 + Frame_Shift_Del DEL G G - TCGA-A7-A0D9-01A-31W-A071-09 TCGA-A7-A0D9-10A-01W-A071-09 g.chrX:48457777delG c.319delG c.(319-321)gggfs p.G107fs BRCA 23 48458037 48458037 + Missense_Mutation SNP C C T TCGA-AR-A2LK-01A-11D-A17W-09 TCGA-AR-A2LK-10A-01D-A17W-09 g.chrX:48458037C>T c.455C>T c.(454-456)aCg>aTg p.T152M BRCA 23 48458086 48458086 + Silent SNP C C T TCGA-E9-A5UO-01A-11D-A28B-09 TCGA-E9-A5UO-10A-01D-A28E-09 g.chrX:48458086C>T c.504C>T c.(502-504)gaC>gaT p.D168D BRCA 23 48458724 48458724 + Missense_Mutation SNP G G A TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 g.chrX:48458724G>A c.541G>A c.(541-543)Gcc>Acc p.A181T BRCA 23 48458901 48458901 + Missense_Mutation SNP A A G TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-11A-22D-A12B-09 g.chrX:48458901A>G c.718A>G c.(718-720)Acc>Gcc p.T240A BRCA 23 48460302 48460302 + Missense_Mutation SNP C C T TCGA-E9-A1N9-01A-11D-A14G-09 TCGA-E9-A1N9-10A-01D-A14G-09 g.chrX:48460302C>T c.962C>T c.(961-963)gCg>gTg p.A321V BRCA 23 48462671 48462671 + Missense_Mutation SNP A A G TCGA-E2-A570-01A-11D-A29N-09 TCGA-E2-A570-10A-01D-A29N-09 g.chrX:48462671A>G c.1166A>G c.(1165-1167)aAc>aGc p.N389S BRCA 23 48463345 48463345 + Silent SNP C C T TCGA-C8-A26V-01A-11D-A16D-09 TCGA-C8-A26V-10A-01D-A16D-09 g.chrX:48463345C>T c.1383C>T c.(1381-1383)ttC>ttT p.F461F CESC 23 48458814 48458814 + Missense_Mutation SNP C C T TCGA-MY-A5BE-01A-21D-A26G-09 TCGA-MY-A5BE-10A-01D-A26G-09 g.chrX:48458814C>T c.631C>T c.(631-633)Cgc>Tgc p.R211C CESC 23 48458940 48458940 + Nonsense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 g.chrX:48458940C>T c.757C>T c.(757-759)Cga>Tga p.R253* CESC 23 48460336 48460336 + Silent SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 g.chrX:48460336C>T c.996C>T c.(994-996)ctC>ctT p.L332L CHOL 23 48457849 48457849 + Splice_Site SNP A A G TCGA-W5-AA34-01A-11D-A417-09 TCGA-W5-AA34-10A-01D-A41A-09 g.chrX:48457849A>G c.391A>G c.(391-393)Agg>Ggg p.R131G COAD 23 48457201 48457201 + Frame_Shift_Del DEL C C - TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chrX:48457201delC c.138delC c.(136-138)cacfs p.H46fs COAD 23 48458718 48458718 + Missense_Mutation SNP C C T TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chrX:48458718C>T c.535C>T c.(535-537)Cgc>Tgc p.R179C COAD 23 48458724 48458724 + Missense_Mutation SNP G G A TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chrX:48458724G>A c.541G>A c.(541-543)Gcc>Acc p.A181T COAD 23 48458879 48458879 + Silent SNP C C A TCGA-AA-A00R-01A-01W-A005-10 TCGA-AA-A00R-10A-01W-A005-10 g.chrX:48458879C>A c.696C>A c.(694-696)ctC>ctA p.L232L COAD 23 48460282 48460282 + Silent SNP C C A TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chrX:48460282C>A c.942C>A c.(940-942)gcC>gcA p.A314A COAD 23 48460474 48460474 + Missense_Mutation SNP G G A TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chrX:48460474G>A c.1034G>A c.(1033-1035)cGt>cAt p.R345H COAD 23 48460474 48460474 + Missense_Mutation SNP G G A TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chrX:48460474G>A c.1034G>A c.(1033-1035)cGt>cAt p.R345H COAD 23 48463285 48463285 + Silent SNP G G A TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chrX:48463285G>A c.1323G>A c.(1321-1323)gcG>gcA p.A441A COAD 23 48463285 48463285 + Silent SNP G G C TCGA-AA-A01D-01A-01W-A00E-09 TCGA-AA-A01D-10A-01W-A00E-09 g.chrX:48463285G>C c.1323G>C c.(1321-1323)gcG>gcC p.A441A COAD 23 48463306 48463306 + Silent SNP G G A TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chrX:48463306G>A c.1344G>A c.(1342-1344)aaG>aaA p.K448K COADREAD 23 48457201 48457201 + Frame_Shift_Del DEL C C - TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chrX:48457201delC c.138delC c.(136-138)cacfs p.H46fs COADREAD 23 48457274 48457274 + Missense_Mutation SNP G G A TCGA-AG-3732-01A-11D-1657-10 TCGA-AG-3732-11A-01D-1657-10 g.chrX:48457274G>A c.211G>A c.(211-213)Gag>Aag p.E71K COADREAD 23 48457786 48457786 + Missense_Mutation SNP C C T TCGA-AG-4001-01A-02W-1073-09 TCGA-AG-4001-10A-01W-1073-09 g.chrX:48457786C>T c.328C>T c.(328-330)Cgt>Tgt p.R110C COADREAD 23 48458718 48458718 + Missense_Mutation SNP C C T TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chrX:48458718C>T c.535C>T c.(535-537)Cgc>Tgc p.R179C COADREAD 23 48458724 48458724 + Missense_Mutation SNP G G A TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chrX:48458724G>A c.541G>A c.(541-543)Gcc>Acc p.A181T COADREAD 23 48458879 48458879 + Silent SNP C C A TCGA-AA-A00R-01A-01W-A005-10 TCGA-AA-A00R-10A-01W-A005-10 g.chrX:48458879C>A c.696C>A c.(694-696)ctC>ctA p.L232L COADREAD 23 48460237 48460237 + Silent SNP C C T TCGA-AG-4015-01A-01W-1073-09 TCGA-AG-4015-10A-01W-1073-09 g.chrX:48460237C>T c.897C>T c.(895-897)ggC>ggT p.G299G COADREAD 23 48460282 48460282 + Silent SNP C C A TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chrX:48460282C>A c.942C>A c.(940-942)gcC>gcA p.A314A COADREAD 23 48460469 48460469 + Silent SNP C C A TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chrX:48460469C>A c.1029C>A c.(1027-1029)gcC>gcA p.A343A COADREAD 23 48460474 48460474 + Missense_Mutation SNP G G A TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chrX:48460474G>A c.1034G>A c.(1033-1035)cGt>cAt p.R345H COADREAD 23 48460474 48460474 + Missense_Mutation SNP G G A TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chrX:48460474G>A c.1034G>A c.(1033-1035)cGt>cAt p.R345H COADREAD 23 48463285 48463285 + Silent SNP G G A TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chrX:48463285G>A c.1323G>A c.(1321-1323)gcG>gcA p.A441A COADREAD 23 48463285 48463285 + Silent SNP G G C TCGA-AA-A01D-01A-01W-A00E-09 TCGA-AA-A01D-10A-01W-A00E-09 g.chrX:48463285G>C c.1323G>C c.(1321-1323)gcG>gcC p.A441A COADREAD 23 48463306 48463306 + Silent SNP G G A TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chrX:48463306G>A c.1344G>A c.(1342-1344)aaG>aaA p.K448K DLBC 23 48462764 48462765 + Frame_Shift_Ins INS - - G TCGA-FF-8047-01A-11D-2210-10 TCGA-FF-8047-10A-01D-2210-10 g.chrX:48462764_48462765insG c.1259_1260insG c.(1258-1263)caggggfs p.QG420fs ESCA 23 48458003 48458003 + Missense_Mutation SNP G G T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 g.chrX:48458003G>T c.421G>T c.(421-423)Gca>Tca p.A141S GBM 23 48458765 48458765 + Silent SNP C C T TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 g.chrX:48458765C>T c.582C>T c.(580-582)gaC>gaT p.D194D GBM 23 48463240 48463240 + Silent SNP G G A TCGA-06-0650-01A-02D-1696-08 TCGA-06-0650-10A-01D-1696-08 g.chrX:48463240G>A c.1278G>A c.(1276-1278)acG>acA p.T426T GBMLGG 23 48458765 48458765 + Silent SNP C C T TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 g.chrX:48458765C>T c.582C>T c.(580-582)gaC>gaT p.D194D GBMLGG 23 48463240 48463240 + Silent SNP G G A TCGA-06-0650-01A-02D-1696-08 TCGA-06-0650-10A-01D-1696-08 g.chrX:48463240G>A c.1278G>A c.(1276-1278)acG>acA p.T426T HNSC 23 48457207 48457207 + Silent SNP A A C TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 g.chrX:48457207A>C c.144A>C c.(142-144)ccA>ccC p.P48P HNSC 23 48457988 48457988 + Missense_Mutation SNP G G A TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 g.chrX:48457988G>A c.406G>A c.(406-408)Gtg>Atg p.V136M HNSC 23 48458093 48458093 + Missense_Mutation SNP G G A TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 g.chrX:48458093G>A c.511G>A c.(511-513)Gtg>Atg p.V171M HNSC 23 48460486 48460486 + Missense_Mutation SNP A A T TCGA-F7-A623-01A-11D-A28R-08 TCGA-F7-A623-10A-01D-A28U-08 g.chrX:48460486A>T c.1046A>T c.(1045-1047)cAt>cTt p.H349L KIPAN 23 48458031 48458031 + Missense_Mutation SNP G G T TCGA-B0-4817-01A-01D-1361-10 TCGA-B0-4817-11A-01D-1361-10 g.chrX:48458031G>T c.449G>T c.(448-450)gGg>gTg p.G150V KIPAN 23 48462751 48462751 + Missense_Mutation SNP A A C TCGA-AK-3460-01A-02D-1361-10 TCGA-AK-3460-10A-01D-1361-10 g.chrX:48462751A>C c.1246A>C c.(1246-1248)Atg>Ctg p.M416L KIRC 23 48458031 48458031 + Missense_Mutation SNP G G T TCGA-B0-4817-01A-01D-1361-10 TCGA-B0-4817-11A-01D-1361-10 g.chrX:48458031G>T c.449G>T c.(448-450)gGg>gTg p.G150V KIRC 23 48462751 48462751 + Missense_Mutation SNP A A C TCGA-AK-3460-01A-02D-1361-10 TCGA-AK-3460-10A-01D-1361-10 g.chrX:48462751A>C c.1246A>C c.(1246-1248)Atg>Ctg p.M416L LIHC 23 48458000 48458000 + Missense_Mutation SNP T T C TCGA-DD-A39Y-01A-11D-A20W-10 TCGA-DD-A39Y-11A-11D-A20W-10 g.chrX:48458000T>C c.418T>C c.(418-420)Tca>Cca p.S140P LIHC 23 48458002 48458002 + Silent SNP A A G TCGA-DD-A119-01A-11D-A12Z-10 TCGA-DD-A119-10A-01D-A12Z-10 g.chrX:48458002A>G c.420A>G c.(418-420)tcA>tcG p.S140S LIHC 23 48458757 48458757 + Missense_Mutation SNP T T C TCGA-EP-A2KB-01A-11D-A183-10 TCGA-EP-A2KB-10A-01D-A183-10 g.chrX:48458757T>C c.574T>C c.(574-576)Tca>Cca p.S192P LUAD 23 48457261 48457261 + Nonsense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 g.chrX:48457261C>A c.198C>A c.(196-198)taC>taA p.Y66* LUAD 23 48457296 48457296 + Missense_Mutation SNP A A T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 g.chrX:48457296A>T c.233A>T c.(232-234)tAt>tTt p.Y78F LUAD 23 48457770 48457770 + Silent SNP G G T TCGA-55-8507-01A-11D-2393-08 TCGA-55-8507-10A-01D-2393-08 g.chrX:48457770G>T c.312G>T c.(310-312)ggG>ggT p.G104G LUAD 23 48458017 48458017 + Missense_Mutation SNP T T G TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 g.chrX:48458017T>G c.435T>G c.(433-435)agT>agG p.S145R LUAD 23 48458941 48458941 + Missense_Mutation SNP G G T TCGA-05-4398-01A-01D-1265-08 TCGA-05-4398-10A-01D-1265-08 g.chrX:48458941G>T c.758G>T c.(757-759)cGa>cTa p.R253L LUAD 23 48460174 48460174 + Silent SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 g.chrX:48460174G>T c.834G>T c.(832-834)gtG>gtT p.V278V LUAD 23 48460215 48460215 + Missense_Mutation SNP C C A TCGA-69-7974-01A-11D-2184-08 TCGA-69-7974-10A-01D-2184-08 g.chrX:48460215C>A c.875C>A c.(874-876)aCa>aAa p.T292K LUAD 23 48460278 48460278 + Missense_Mutation SNP A A G TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 g.chrX:48460278A>G c.938A>G c.(937-939)gAt>gGt p.D313G LUAD 23 48460281 48460281 + Missense_Mutation SNP C C A TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 g.chrX:48460281C>A c.941C>A c.(940-942)gCc>gAc p.A314D LUSC 23 48463413 48463413 + Missense_Mutation SNP A A T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 g.chrX:48463413A>T c.1451A>T c.(1450-1452)cAg>cTg p.Q484L OV 23 48457119 48457119 + Missense_Mutation SNP G G A TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 g.chrX:48457119G>A c.56G>A c.(55-57)cGc>cAc p.R19H OV 23 48457322 48457322 + Missense_Mutation SNP C C T TCGA-25-1630-01A-01W-0615-10 TCGA-25-1630-10A-01W-0615-10 g.chrX:48457322C>T c.259C>T c.(259-261)Cgc>Tgc p.R87C OV 23 48458030 48458030 + Missense_Mutation SNP G G A TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 g.chrX:48458030G>A c.448G>A c.(448-450)Ggg>Agg p.G150R OV 23 48460328 48460328 + Missense_Mutation SNP T T C TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 g.chrX:48460328T>C c.988T>C c.(988-990)Tct>Cct p.S330P OV 23 48463354 48463354 + Silent SNP C C T TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 g.chrX:48463354C>T c.1392C>T c.(1390-1392)gaC>gaT p.D464D PRAD 23 48458010 48458010 + Missense_Mutation SNP A A T TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 g.chrX:48458010A>T c.428A>T c.(427-429)gAg>gTg p.E143V PRAD 23 48462709 48462709 + Missense_Mutation SNP G G A TCGA-XK-AAK1-01A-11D-A41K-08 TCGA-XK-AAK1-10A-01D-A41N-08 g.chrX:48462709G>A c.1204G>A c.(1204-1206)Gag>Aag p.E402K READ 23 48457274 48457274 + Missense_Mutation SNP G G A TCGA-AG-3732-01A-11D-1657-10 TCGA-AG-3732-11A-01D-1657-10 g.chrX:48457274G>A c.211G>A c.(211-213)Gag>Aag p.E71K READ 23 48457786 48457786 + Missense_Mutation SNP C C T TCGA-AG-4001-01A-02W-1073-09 TCGA-AG-4001-10A-01W-1073-09 g.chrX:48457786C>T c.328C>T c.(328-330)Cgt>Tgt p.R110C READ 23 48460237 48460237 + Silent SNP C C T TCGA-AG-4015-01A-01W-1073-09 TCGA-AG-4015-10A-01W-1073-09 g.chrX:48460237C>T c.897C>T c.(895-897)ggC>ggT p.G299G READ 23 48460469 48460469 + Silent SNP C C A TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chrX:48460469C>A c.1029C>A c.(1027-1029)gcC>gcA p.A343A SKCM 23 48457988 48457988 + Missense_Mutation SNP G G A TCGA-EE-A2GT-06A-12D-A197-08 TCGA-EE-A2GT-10A-01D-A199-08 g.chrX:48457988G>A c.406G>A c.(406-408)Gtg>Atg p.V136M SKCM 23 48458075 48458075 + Missense_Mutation SNP C C G TCGA-D3-A51K-06A-11D-A25O-08 TCGA-D3-A51K-10A-01D-A25O-08 g.chrX:48458075C>G c.493C>G c.(493-495)Cat>Gat p.H165D SKCM 23 48458948 48458948 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chrX:48458948C>T c.765C>T c.(763-765)atC>atT p.I255I SKCM 23 48463292 48463292 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 g.chrX:48463292G>A c.1330G>A c.(1330-1332)Gct>Act p.A444T SKCM 23 48463396 48463396 + Silent SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 g.chrX:48463396C>T c.1434C>T c.(1432-1434)atC>atT p.I478I

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 X 48458064 48458064 single base substitution C T downstream_gene_variant BLCA-CN X 48458064 48458064 single base substitution C T exon_variant BLCA-CN X 48458064 48458064 single base substitution C T missense_variant A161V 482C>T BLCA-CN X 48458064 48458064 single base substitution C T upstream_gene_variant BLCA-US X 48457331 48457331 single base substitution C T downstream_gene_variant BLCA-US X 48457331 48457331 single base substitution C T exon_variant BLCA-US X 48457331 48457331 single base substitution C T missense_variant L90F 268C>T BLCA-US X 48457331 48457331 single base substitution C T upstream_gene_variant BLCA-US X 48460204 48460204 single base substitution G A downstream_gene_variant BLCA-US X 48460204 48460204 single base substitution G A exon_variant BLCA-US X 48460204 48460204 single base substitution G A missense_variant M288I 864G>A BLCA-US X 48460204 48460204 single base substitution G A upstream_gene_variant BRCA-EU X 48444479 48444479 single base substitution G C upstream_gene_variant BRCA-EU X 48444574 48444593 deletion of <=200bp TTGCTTATTTTTTTAACACA - upstream_gene_variant BRCA-EU X 48444815 48444817 deletion of <=200bp CCC - upstream_gene_variant BRCA-EU X 48445189 48445189 single base substitution C G upstream_gene_variant BRCA-EU X 48445385 48445385 single base substitution G C upstream_gene_variant BRCA-EU X 48446406 48446406 single base substitution G A upstream_gene_variant BRCA-EU X 48446700 48446700 single base substitution C T upstream_gene_variant BRCA-EU X 48448559 48448559 single base substitution C T exon_variant BRCA-EU X 48449403 48449403 single base substitution G T intron_variant BRCA-EU X 48450132 48450132 single base substitution G A intron_variant BRCA-EU X 48450278 48450278 single base substitution C G intron_variant BRCA-EU X 48451353 48451353 single base substitution G C intron_variant BRCA-EU X 48451353 48451353 single base substitution G C upstream_gene_variant BRCA-EU X 48453153 48453153 single base substitution C T intron_variant BRCA-EU X 48453153 48453153 single base substitution C T upstream_gene_variant BRCA-EU X 48457119 48457119 single base substitution G A downstream_gene_variant BRCA-EU X 48457119 48457119 single base substitution G A exon_variant BRCA-EU X 48457119 48457119 single base substitution G A intron_variant BRCA-EU X 48457119 48457119 single base substitution G A missense_variant R19H 56G>A BRCA-EU X 48457119 48457119 single base substitution G A upstream_gene_variant BRCA-EU X 48457430 48457430 single base substitution G C downstream_gene_variant BRCA-EU X 48457430 48457430 single base substitution G C exon_variant BRCA-EU X 48457430 48457430 single base substitution G C intron_variant BRCA-EU X 48457430 48457430 single base substitution G C upstream_gene_variant BRCA-EU X 48457783 48457783 single base substitution C A downstream_gene_variant BRCA-EU X 48457783 48457783 single base substitution C A exon_variant BRCA-EU X 48457783 48457783 single base substitution C A missense_variant R109S 325C>A BRCA-EU X 48457783 48457783 single base substitution C A upstream_gene_variant BRCA-EU X 48459037 48459037 single base substitution C T downstream_gene_variant BRCA-EU X 48459037 48459037 single base substitution C T exon_variant BRCA-EU X 48459037 48459037 single base substitution C T intron_variant BRCA-EU X 48459037 48459037 single base substitution C T upstream_gene_variant BRCA-EU X 48459136 48459136 single base substitution C T downstream_gene_variant BRCA-EU X 48459136 48459136 single base substitution C T intron_variant BRCA-EU X 48459136 48459136 single base substitution C T upstream_gene_variant BRCA-EU X 48459176 48459176 single base substitution G A downstream_gene_variant BRCA-EU X 48459176 48459176 single base substitution G A intron_variant BRCA-EU X 48459176 48459176 single base substitution G A upstream_gene_variant BRCA-EU X 48459351 48459351 single base substitution C T downstream_gene_variant BRCA-EU X 48459351 48459351 single base substitution C T intron_variant BRCA-EU X 48459351 48459351 single base substitution C T upstream_gene_variant BRCA-EU X 48459372 48459372 single base substitution A G downstream_gene_variant BRCA-EU X 48459372 48459372 single base substitution A G intron_variant BRCA-EU X 48459372 48459372 single base substitution A G upstream_gene_variant BRCA-EU X 48459987 48459987 single base substitution G C downstream_gene_variant BRCA-EU X 48459987 48459987 single base substitution G C intron_variant BRCA-EU X 48459987 48459987 single base substitution G C upstream_gene_variant BRCA-EU X 48460798 48460798 single base substitution C G downstream_gene_variant BRCA-EU X 48460798 48460798 single base substitution C G intron_variant BRCA-EU X 48460798 48460798 single base substitution C G upstream_gene_variant BRCA-EU X 48461200 48461200 single base substitution C A downstream_gene_variant BRCA-EU X 48461200 48461200 single base substitution C A intron_variant BRCA-EU X 48461200 48461200 single base substitution C A upstream_gene_variant BRCA-EU X 48461302 48461302 single base substitution C T downstream_gene_variant BRCA-EU X 48461302 48461302 single base substitution C T intron_variant BRCA-EU X 48461302 48461302 single base substitution C T upstream_gene_variant BRCA-EU X 48461494 48461494 single base substitution C T downstream_gene_variant BRCA-EU X 48461494 48461494 single base substitution C T intron_variant BRCA-EU X 48461494 48461494 single base substitution C T upstream_gene_variant BRCA-EU X 48461864 48461864 single base substitution C T downstream_gene_variant BRCA-EU X 48461864 48461864 single base substitution C T intron_variant BRCA-EU X 48461864 48461864 single base substitution C T upstream_gene_variant BRCA-EU X 48462955 48462955 single base substitution C A downstream_gene_variant BRCA-EU X 48462955 48462955 single base substitution C A intron_variant BRCA-EU X 48464060 48464060 single base substitution C T downstream_gene_variant BRCA-EU X 48464286 48464286 single base substitution G T downstream_gene_variant BRCA-EU X 48464827 48464827 single base substitution G A downstream_gene_variant BRCA-EU X 48466186 48466186 single base substitution C G downstream_gene_variant BRCA-EU X 48467695 48467695 deletion of <=200bp C - downstream_gene_variant BRCA-EU X 48467829 48467829 single base substitution G A downstream_gene_variant BRCA-EU X 48467937 48467937 single base substitution G A downstream_gene_variant BRCA-EU X 48468426 48468426 single base substitution G C downstream_gene_variant BRCA-EU X 48468530 48468530 single base substitution G C downstream_gene_variant BRCA-FR X 48444989 48444989 single base substitution C A upstream_gene_variant BRCA-FR X 48445385 48445385 single base substitution G C upstream_gene_variant BRCA-FR X 48446406 48446406 single base substitution G A upstream_gene_variant BRCA-FR X 48446700 48446700 single base substitution C T upstream_gene_variant BRCA-FR X 48447656 48447656 single base substitution A C upstream_gene_variant BRCA-FR X 48448559 48448559 single base substitution C T exon_variant BRCA-FR X 48450278 48450278 single base substitution C G intron_variant BRCA-FR X 48457257 48457257 single base substitution G A downstream_gene_variant BRCA-FR X 48457257 48457257 single base substitution G A exon_variant BRCA-FR X 48457257 48457257 single base substitution G A missense_variant R65H 194G>A BRCA-FR X 48457257 48457257 single base substitution G A upstream_gene_variant BRCA-FR X 48457430 48457430 single base substitution G C downstream_gene_variant BRCA-FR X 48457430 48457430 single base substitution G C exon_variant BRCA-FR X 48457430 48457430 single base substitution G C intron_variant BRCA-FR X 48457430 48457430 single base substitution G C upstream_gene_variant BRCA-FR X 48459037 48459037 single base substitution C T downstream_gene_variant BRCA-FR X 48459037 48459037 single base substitution C T exon_variant BRCA-FR X 48459037 48459037 single base substitution C T intron_variant BRCA-FR X 48459037 48459037 single base substitution C T upstream_gene_variant BRCA-FR X 48461494 48461494 single base substitution C T downstream_gene_variant BRCA-FR X 48461494 48461494 single base substitution C T intron_variant BRCA-FR X 48461494 48461494 single base substitution C T upstream_gene_variant BRCA-FR X 48467284 48467284 single base substitution A G downstream_gene_variant BRCA-UK X 48445538 48445538 single base substitution G C upstream_gene_variant BRCA-UK X 48450132 48450132 single base substitution G A intron_variant BRCA-UK X 48462307 48462307 single base substitution C G downstream_gene_variant BRCA-UK X 48462307 48462307 single base substitution C G intron_variant BRCA-UK X 48462307 48462307 single base substitution C G upstream_gene_variant BRCA-US X 48457035 48457035 deletion of <=200bp C - downstream_gene_variant BRCA-US X 48457035 48457035 deletion of <=200bp C - exon_variant BRCA-US X 48457035 48457035 deletion of <=200bp C - intron_variant BRCA-US X 48457035 48457035 deletion of <=200bp C - upstream_gene_variant BRCA-US X 48457210 48457210 single base substitution G A downstream_gene_variant BRCA-US X 48457210 48457210 single base substitution G A exon_variant BRCA-US X 48457210 48457210 single base substitution G A synonymous_variant A49A 147G>A BRCA-US X 48457210 48457210 single base substitution G A upstream_gene_variant BRCA-US X 48457777 48457777 deletion of <=200bp G - downstream_gene_variant BRCA-US X 48457777 48457777 deletion of <=200bp G - exon_variant BRCA-US X 48457777 48457777 deletion of <=200bp G - frameshift_variant G107 BRCA-US X 48457777 48457777 deletion of <=200bp G - upstream_gene_variant BRCA-US X 48458037 48458037 single base substitution C T downstream_gene_variant BRCA-US X 48458037 48458037 single base substitution C T exon_variant BRCA-US X 48458037 48458037 single base substitution C T missense_variant T152M 455C>T BRCA-US X 48458037 48458037 single base substitution C T upstream_gene_variant BRCA-US X 48458086 48458086 single base substitution C T downstream_gene_variant BRCA-US X 48458086 48458086 single base substitution C T exon_variant BRCA-US X 48458086 48458086 single base substitution C T synonymous_variant D168D 504C>T BRCA-US X 48458086 48458086 single base substitution C T upstream_gene_variant BRCA-US X 48458724 48458724 single base substitution G A downstream_gene_variant BRCA-US X 48458724 48458724 single base substitution G A exon_variant BRCA-US X 48458724 48458724 single base substitution G A missense_variant A181T 541G>A BRCA-US X 48458724 48458724 single base substitution G A upstream_gene_variant BRCA-US X 48458901 48458901 single base substitution A G downstream_gene_variant BRCA-US X 48458901 48458901 single base substitution A G exon_variant BRCA-US X 48458901 48458901 single base substitution A G missense_variant T240A 718A>G BRCA-US X 48458901 48458901 single base substitution A G upstream_gene_variant BRCA-US X 48459020 48459020 single base substitution G T downstream_gene_variant BRCA-US X 48459020 48459020 single base substitution G T exon_variant BRCA-US X 48459020 48459020 single base substitution G T splice_region_variant BRCA-US X 48459020 48459020 single base substitution G T upstream_gene_variant BRCA-US X 48460302 48460302 single base substitution C T downstream_gene_variant BRCA-US X 48460302 48460302 single base substitution C T exon_variant BRCA-US X 48460302 48460302 single base substitution C T missense_variant A321V 962C>T BRCA-US X 48460302 48460302 single base substitution C T upstream_gene_variant BRCA-US X 48462671 48462671 single base substitution A G downstream_gene_variant BRCA-US X 48462671 48462671 single base substitution A G exon_variant BRCA-US X 48462671 48462671 single base substitution A G missense_variant N389S 1166A>G BRCA-US X 48463345 48463345 single base substitution C T downstream_gene_variant BRCA-US X 48463345 48463345 single base substitution C T exon_variant BRCA-US X 48463345 48463345 single base substitution C T synonymous_variant F461F 1383C>T BTCA-JP X 48457235 48457235 single base substitution C T downstream_gene_variant BTCA-JP X 48457235 48457235 single base substitution C T exon_variant BTCA-JP X 48457235 48457235 single base substitution C T missense_variant R58W 172C>T BTCA-JP X 48457235 48457235 single base substitution C T upstream_gene_variant BTCA-JP X 48457933 48457933 single base substitution G A downstream_gene_variant BTCA-JP X 48457933 48457933 single base substitution G A intron_variant BTCA-JP X 48457933 48457933 single base substitution G A upstream_gene_variant BTCA-JP X 48459074 48459074 single base substitution G A downstream_gene_variant BTCA-JP X 48459074 48459074 single base substitution G A exon_variant BTCA-JP X 48459074 48459074 single base substitution G A intron_variant BTCA-JP X 48459074 48459074 single base substitution G A upstream_gene_variant BTCA-JP X 48460474 48460474 single base substitution G A downstream_gene_variant BTCA-JP X 48460474 48460474 single base substitution G A exon_variant BTCA-JP X 48460474 48460474 single base substitution G A missense_variant R345H 1034G>A BTCA-JP X 48460474 48460474 single base substitution G A upstream_gene_variant CESC-US X 48456174 48456174 single base substitution G A 5_prime_UTR_variant CESC-US X 48456174 48456174 single base substitution G A exon_variant CESC-US X 48456174 48456174 single base substitution G A intron_variant CESC-US X 48456174 48456174 single base substitution G A upstream_gene_variant CESC-US X 48458814 48458814 single base substitution C T downstream_gene_variant CESC-US X 48458814 48458814 single base substitution C T exon_variant CESC-US X 48458814 48458814 single base substitution C T missense_variant R211C 631C>T CESC-US X 48458814 48458814 single base substitution C T upstream_gene_variant CESC-US X 48458940 48458940 single base substitution C T downstream_gene_variant CESC-US X 48458940 48458940 single base substitution C T exon_variant CESC-US X 48458940 48458940 single base substitution C T stop_gained R253* 757C>T CESC-US X 48458940 48458940 single base substitution C T upstream_gene_variant CESC-US X 48460336 48460336 single base substitution C T downstream_gene_variant CESC-US X 48460336 48460336 single base substitution C T exon_variant CESC-US X 48460336 48460336 single base substitution C T synonymous_variant L332L 996C>T CESC-US X 48460336 48460336 single base substitution C T upstream_gene_variant CESC-US X 48462649 48462649 single base substitution C T downstream_gene_variant CESC-US X 48462649 48462649 single base substitution C T exon_variant CESC-US X 48462649 48462649 single base substitution C T intron_variant CESC-US X 48462652 48462652 single base substitution C T downstream_gene_variant CESC-US X 48462652 48462652 single base substitution C T exon_variant CESC-US X 48462652 48462652 single base substitution C T splice_region_variant CLLE-ES X 48443930 48443930 single base substitution T A upstream_gene_variant CLLE-ES X 48462544 48462544 single base substitution T A downstream_gene_variant CLLE-ES X 48462544 48462544 single base substitution T A intron_variant CLLE-ES X 48462544 48462544 single base substitution T A upstream_gene_variant COAD-US X 48457201 48457201 deletion of <=200bp C - downstream_gene_variant COAD-US X 48457201 48457201 deletion of <=200bp C - exon_variant COAD-US X 48457201 48457201 deletion of <=200bp C - frameshift_variant H46 COAD-US X 48457201 48457201 deletion of <=200bp C - upstream_gene_variant COAD-US X 48458724 48458724 single base substitution G A downstream_gene_variant COAD-US X 48458724 48458724 single base substitution G A exon_variant COAD-US X 48458724 48458724 single base substitution G A missense_variant A181T 541G>A COAD-US X 48458724 48458724 single base substitution G A upstream_gene_variant COAD-US X 48460282 48460282 single base substitution C A downstream_gene_variant COAD-US X 48460282 48460282 single base substitution C A exon_variant COAD-US X 48460282 48460282 single base substitution C A synonymous_variant A314A 942C>A COAD-US X 48460282 48460282 single base substitution C A upstream_gene_variant COAD-US X 48460474 48460474 single base substitution G A downstream_gene_variant COAD-US X 48460474 48460474 single base substitution G A exon_variant COAD-US X 48460474 48460474 single base substitution G A missense_variant R345H 1034G>A COAD-US X 48460474 48460474 single base substitution G A upstream_gene_variant COAD-US X 48463285 48463285 single base substitution G A downstream_gene_variant COAD-US X 48463285 48463285 single base substitution G A exon_variant COAD-US X 48463285 48463285 single base substitution G A synonymous_variant A441A 1323G>A COCA-CN X 48456391 48456391 single base substitution G A exon_variant COCA-CN X 48456391 48456391 single base substitution G A missense_variant A3T 7G>A COCA-CN X 48456391 48456391 single base substitution G A upstream_gene_variant GBM-US X 48458765 48458765 single base substitution C T downstream_gene_variant GBM-US X 48458765 48458765 single base substitution C T exon_variant GBM-US X 48458765 48458765 single base substitution C T synonymous_variant D194D 582C>T GBM-US X 48458765 48458765 single base substitution C T upstream_gene_variant GBM-US X 48463240 48463240 single base substitution G A downstream_gene_variant GBM-US X 48463240 48463240 single base substitution G A exon_variant GBM-US X 48463240 48463240 single base substitution G A synonymous_variant T426T 1278G>A KIRC-US X 48456398 48456398 single base substitution G T exon_variant KIRC-US X 48456398 48456398 single base substitution G T missense_variant W5L 14G>T KIRC-US X 48456398 48456398 single base substitution G T upstream_gene_variant KIRC-US X 48458031 48458031 single base substitution G T downstream_gene_variant KIRC-US X 48458031 48458031 single base substitution G T exon_variant KIRC-US X 48458031 48458031 single base substitution G T missense_variant G150V 449G>T KIRC-US X 48458031 48458031 single base substitution G T upstream_gene_variant KIRC-US X 48462751 48462751 single base substitution A C downstream_gene_variant KIRC-US X 48462751 48462751 single base substitution A C exon_variant KIRC-US X 48462751 48462751 single base substitution A C missense_variant M416L 1246A>C LAML-KR X 48466362 48466362 single base substitution A G downstream_gene_variant LICA-CN X 48457215 48457215 single base substitution G T downstream_gene_variant LICA-CN X 48457215 48457215 single base substitution G T exon_variant LICA-CN X 48457215 48457215 single base substitution G T missense_variant R51L 152G>T LICA-CN X 48457215 48457215 single base substitution G T upstream_gene_variant LICA-CN X 48457784 48457784 single base substitution G T downstream_gene_variant LICA-CN X 48457784 48457784 single base substitution G T exon_variant LICA-CN X 48457784 48457784 single base substitution G T missense_variant R109L 326G>T LICA-CN X 48457784 48457784 single base substitution G T upstream_gene_variant LICA-FR X 48447269 48447269 single base substitution C T upstream_gene_variant LICA-FR X 48467397 48467397 single base substitution T A downstream_gene_variant LINC-JP X 48451401 48451401 single base substitution T A intron_variant LINC-JP X 48451401 48451401 single base substitution T A upstream_gene_variant LINC-JP X 48453894 48453894 single base substitution A T intron_variant LINC-JP X 48453894 48453894 single base substitution A T upstream_gene_variant LINC-JP X 48456721 48456721 deletion of <=200bp T - downstream_gene_variant LINC-JP X 48456721 48456721 deletion of <=200bp T - exon_variant LINC-JP X 48456721 48456721 deletion of <=200bp T - intron_variant LINC-JP X 48456721 48456721 deletion of <=200bp T - upstream_gene_variant LINC-JP X 48458051 48458051 single base substitution A T downstream_gene_variant LINC-JP X 48458051 48458051 single base substitution A T exon_variant LINC-JP X 48458051 48458051 single base substitution A T missense_variant N157Y 469A>T LINC-JP X 48458051 48458051 single base substitution A T upstream_gene_variant LINC-JP X 48462761 48462761 single base substitution G A downstream_gene_variant LINC-JP X 48462761 48462761 single base substitution G A exon_variant LINC-JP X 48462761 48462761 single base substitution G A missense_variant R419H 1256G>A LIRI-JP X 48447914 48447914 single base substitution A G upstream_gene_variant LIRI-JP X 48447991 48447991 single base substitution G A upstream_gene_variant LIRI-JP X 48449127 48449127 single base substitution C T intron_variant LIRI-JP X 48451140 48451140 single base substitution C G intron_variant LIRI-JP X 48451140 48451140 single base substitution C G upstream_gene_variant LIRI-JP X 48454980 48454980 single base substitution G A intron_variant LIRI-JP X 48454980 48454980 single base substitution G A upstream_gene_variant LIRI-JP X 48459090 48459090 single base substitution A C downstream_gene_variant LIRI-JP X 48459090 48459090 single base substitution A C exon_variant LIRI-JP X 48459090 48459090 single base substitution A C intron_variant LIRI-JP X 48459090 48459090 single base substitution A C upstream_gene_variant LIRI-JP X 48461406 48461406 single base substitution A T downstream_gene_variant LIRI-JP X 48461406 48461406 single base substitution A T intron_variant LIRI-JP X 48461406 48461406 single base substitution A T upstream_gene_variant LIRI-JP X 48461894 48461894 single base substitution G A downstream_gene_variant LIRI-JP X 48461894 48461894 single base substitution G A intron_variant LIRI-JP X 48461894 48461894 single base substitution G A upstream_gene_variant LIRI-JP X 48462432 48462432 single base substitution C T downstream_gene_variant LIRI-JP X 48462432 48462432 single base substitution C T intron_variant LIRI-JP X 48462432 48462432 single base substitution C T upstream_gene_variant LIRI-JP X 48463397 48463397 single base substitution G A downstream_gene_variant LIRI-JP X 48463397 48463397 single base substitution G A exon_variant LIRI-JP X 48463397 48463397 single base substitution G A missense_variant V479I 1435G>A LIRI-JP X 48465543 48465543 single base substitution T A downstream_gene_variant LIRI-JP X 48466262 48466262 single base substitution T A downstream_gene_variant LUSC-KR X 48444449 48444449 single base substitution G A upstream_gene_variant LUSC-KR X 48456368 48456368 single base substitution G A 5_prime_UTR_variant LUSC-KR X 48456368 48456368 single base substitution G A exon_variant LUSC-KR X 48456368 48456368 single base substitution G A upstream_gene_variant LUSC-KR X 48458876 48458876 single base substitution C G downstream_gene_variant LUSC-KR X 48458876 48458876 single base substitution C G exon_variant LUSC-KR X 48458876 48458876 single base substitution C G missense_variant I231M 693C>G LUSC-KR X 48458876 48458876 single base substitution C G upstream_gene_variant LUSC-KR X 48459068 48459068 single base substitution C T downstream_gene_variant LUSC-KR X 48459068 48459068 single base substitution C T exon_variant LUSC-KR X 48459068 48459068 single base substitution C T intron_variant LUSC-KR X 48459068 48459068 single base substitution C T upstream_gene_variant LUSC-KR X 48459504 48459504 single base substitution T C downstream_gene_variant LUSC-KR X 48459504 48459504 single base substitution T C intron_variant LUSC-KR X 48459504 48459504 single base substitution T C upstream_gene_variant LUSC-KR X 48459945 48459945 single base substitution G C downstream_gene_variant LUSC-KR X 48459945 48459945 single base substitution G C intron_variant LUSC-KR X 48459945 48459945 single base substitution G C upstream_gene_variant LUSC-KR X 48461253 48461253 single base substitution G A downstream_gene_variant LUSC-KR X 48461253 48461253 single base substitution G A intron_variant LUSC-KR X 48461253 48461253 single base substitution G A upstream_gene_variant LUSC-KR X 48463352 48463352 single base substitution G T downstream_gene_variant LUSC-KR X 48463352 48463352 single base substitution G T exon_variant LUSC-KR X 48463352 48463352 single base substitution G T missense_variant D464Y 1390G>T LUSC-KR X 48468249 48468249 single base substitution C T downstream_gene_variant LUSC-US X 48463413 48463413 single base substitution A T downstream_gene_variant LUSC-US X 48463413 48463413 single base substitution A T exon_variant LUSC-US X 48463413 48463413 single base substitution A T missense_variant Q484L 1451A>T MALY-DE X 48445579 48445580 deletion of <=200bp GT - upstream_gene_variant MALY-DE X 48450797 48450797 single base substitution G A intron_variant MELA-AU X 48443891 48443891 single base substitution G A upstream_gene_variant MELA-AU X 48444226 48444226 single base substitution C T upstream_gene_variant MELA-AU X 48445142 48445142 single base substitution C T upstream_gene_variant MELA-AU X 48445284 48445284 single base substitution C T upstream_gene_variant MELA-AU X 48445450 48445450 single base substitution G A upstream_gene_variant MELA-AU X 48446175 48446175 single base substitution C T upstream_gene_variant MELA-AU X 48446438 48446438 single base substitution A G upstream_gene_variant MELA-AU X 48447732 48447732 single base substitution A G upstream_gene_variant MELA-AU X 48447822 48447822 single base substitution A C upstream_gene_variant MELA-AU X 48448442 48448442 single base substitution G A exon_variant MELA-AU X 48448546 48448546 single base substitution G A exon_variant MELA-AU X 48448719 48448719 single base substitution C T intron_variant MELA-AU X 48451111 48451111 single base substitution G A intron_variant MELA-AU X 48451111 48451111 single base substitution G A upstream_gene_variant MELA-AU X 48451167 48451167 single base substitution G A intron_variant MELA-AU X 48451167 48451167 single base substitution G A upstream_gene_variant MELA-AU X 48451430 48451430 single base substitution C T intron_variant MELA-AU X 48451430 48451430 single base substitution C T upstream_gene_variant MELA-AU X 48451445 48451445 single base substitution C T intron_variant MELA-AU X 48451445 48451445 single base substitution C T upstream_gene_variant MELA-AU X 48452064 48452064 single base substitution T G intron_variant MELA-AU X 48452064 48452064 single base substitution T G upstream_gene_variant MELA-AU X 48452423 48452423 single base substitution C T intron_variant MELA-AU X 48452423 48452423 single base substitution C T upstream_gene_variant MELA-AU X 48452812 48452812 single base substitution G A intron_variant MELA-AU X 48452812 48452812 single base substitution G A upstream_gene_variant MELA-AU X 48453239 48453239 single base substitution G A intron_variant MELA-AU X 48453239 48453239 single base substitution G A upstream_gene_variant MELA-AU X 48453289 48453289 single base substitution T G intron_variant MELA-AU X 48453289 48453289 single base substitution T G upstream_gene_variant MELA-AU X 48453343 48453343 single base substitution G A intron_variant MELA-AU X 48453343 48453343 single base substitution G A upstream_gene_variant MELA-AU X 48453528 48453528 single base substitution C T intron_variant MELA-AU X 48453528 48453528 single base substitution C T upstream_gene_variant MELA-AU X 48453552 48453552 single base substitution G A intron_variant MELA-AU X 48453552 48453552 single base substitution G A upstream_gene_variant MELA-AU X 48456447 48456447 single base substitution C T exon_variant MELA-AU X 48456447 48456447 single base substitution C T intron_variant MELA-AU X 48456447 48456447 single base substitution C T upstream_gene_variant MELA-AU X 48456990 48456990 single base substitution C T downstream_gene_variant MELA-AU X 48456990 48456990 single base substitution C T exon_variant MELA-AU X 48456990 48456990 single base substitution C T intron_variant MELA-AU X 48456990 48456990 single base substitution C T upstream_gene_variant MELA-AU X 48457144 48457144 single base substitution G A downstream_gene_variant MELA-AU X 48457144 48457144 single base substitution G A exon_variant MELA-AU X 48457144 48457144 single base substitution G A synonymous_variant R27R 81G>A MELA-AU X 48457144 48457144 single base substitution G A upstream_gene_variant MELA-AU X 48457732 48457732 single base substitution C T downstream_gene_variant MELA-AU X 48457732 48457732 single base substitution C T exon_variant MELA-AU X 48457732 48457732 single base substitution C T intron_variant MELA-AU X 48457732 48457732 single base substitution C T upstream_gene_variant MELA-AU X 48457772 48457772 single base substitution C T downstream_gene_variant MELA-AU X 48457772 48457772 single base substitution C T exon_variant MELA-AU X 48457772 48457772 single base substitution C T missense_variant A105V 314C>T MELA-AU X 48457772 48457772 single base substitution C T upstream_gene_variant MELA-AU X 48458251 48458251 single base substitution C T downstream_gene_variant MELA-AU X 48458251 48458251 single base substitution C T exon_variant MELA-AU X 48458251 48458251 single base substitution C T intron_variant MELA-AU X 48458251 48458251 single base substitution C T upstream_gene_variant MELA-AU X 48458671 48458671 single base substitution G T downstream_gene_variant MELA-AU X 48458671 48458671 single base substitution G T intron_variant MELA-AU X 48458671 48458671 single base substitution G T upstream_gene_variant MELA-AU X 48458709 48458709 single base substitution C T downstream_gene_variant MELA-AU X 48458709 48458709 single base substitution C T missense_variant P176S 526C>T MELA-AU X 48458709 48458709 single base substitution C T splice_region_variant MELA-AU X 48458709 48458709 single base substitution C T upstream_gene_variant MELA-AU X 48459410 48459410 single base substitution G A downstream_gene_variant MELA-AU X 48459410 48459410 single base substitution G A intron_variant MELA-AU X 48459410 48459410 single base substitution G A upstream_gene_variant MELA-AU X 48459780 48459780 single base substitution C T downstream_gene_variant MELA-AU X 48459780 48459780 single base substitution C T intron_variant MELA-AU X 48459780 48459780 single base substitution C T upstream_gene_variant MELA-AU X 48460399 48460399 single base substitution C T downstream_gene_variant MELA-AU X 48460399 48460399 single base substitution C T intron_variant MELA-AU X 48460399 48460399 single base substitution C T upstream_gene_variant MELA-AU X 48460904 48460904 single base substitution C T downstream_gene_variant MELA-AU X 48460904 48460904 single base substitution C T intron_variant MELA-AU X 48460904 48460904 single base substitution C T upstream_gene_variant MELA-AU X 48461275 48461275 single base substitution C T downstream_gene_variant MELA-AU X 48461275 48461275 single base substitution C T intron_variant MELA-AU X 48461275 48461275 single base substitution C T upstream_gene_variant MELA-AU X 48461486 48461486 single base substitution C T downstream_gene_variant MELA-AU X 48461486 48461486 single base substitution C T intron_variant MELA-AU X 48461486 48461486 single base substitution C T upstream_gene_variant MELA-AU X 48461513 48461513 single base substitution C T downstream_gene_variant MELA-AU X 48461513 48461513 single base substitution C T intron_variant MELA-AU X 48461513 48461513 single base substitution C T upstream_gene_variant MELA-AU X 48461811 48461811 single base substitution G A downstream_gene_variant MELA-AU X 48461811 48461811 single base substitution G A intron_variant MELA-AU X 48461811 48461811 single base substitution G A upstream_gene_variant MELA-AU X 48462281 48462281 single base substitution C T downstream_gene_variant MELA-AU X 48462281 48462281 single base substitution C T intron_variant MELA-AU X 48462281 48462281 single base substitution C T upstream_gene_variant MELA-AU X 48462520 48462520 single base substitution C T downstream_gene_variant MELA-AU X 48462520 48462520 single base substitution C T intron_variant MELA-AU X 48462520 48462520 single base substitution C T upstream_gene_variant MELA-AU X 48462985 48462985 single base substitution G A downstream_gene_variant MELA-AU X 48462985 48462985 single base substitution G A intron_variant MELA-AU X 48463578 48463578 single base substitution C T 3_prime_UTR_variant MELA-AU X 48463578 48463578 single base substitution C T downstream_gene_variant MELA-AU X 48463578 48463578 single base substitution C T exon_variant MELA-AU X 48465282 48465282 single base substitution C T downstream_gene_variant MELA-AU X 48465593 48465593 single base substitution G A downstream_gene_variant MELA-AU X 48465647 48465647 single base substitution C T downstream_gene_variant MELA-AU X 48465877 48465877 single base substitution T G downstream_gene_variant MELA-AU X 48466463 48466463 single base substitution T C downstream_gene_variant MELA-AU X 48467017 48467017 single base substitution C T downstream_gene_variant MELA-AU X 48467651 48467651 single base substitution C G downstream_gene_variant MELA-AU X 48467654 48467654 single base substitution G A downstream_gene_variant MELA-AU X 48467821 48467821 single base substitution G A downstream_gene_variant MELA-AU X 48468365 48468365 single base substitution G A downstream_gene_variant MELA-AU X 48468383 48468383 single base substitution C T downstream_gene_variant ORCA-IN X 48448620 48448620 deletion of <=200bp C - exon_variant ORCA-IN X 48462763 48462763 single base substitution C G downstream_gene_variant ORCA-IN X 48462763 48462763 single base substitution C G exon_variant ORCA-IN X 48462763 48462763 single base substitution C G missense_variant Q420E 1258C>G ORCA-IN X 48463300 48463300 single base substitution C T downstream_gene_variant ORCA-IN X 48463300 48463300 single base substitution C T exon_variant ORCA-IN X 48463300 48463300 single base substitution C T synonymous_variant V446V 1338C>T OV-AU X 48451680 48451680 single base substitution C A intron_variant OV-AU X 48451680 48451680 single base substitution C A upstream_gene_variant OV-AU X 48452118 48452118 single base substitution C T intron_variant OV-AU X 48452118 48452118 single base substitution C T upstream_gene_variant OV-AU X 48457118 48457118 single base substitution C T downstream_gene_variant OV-AU X 48457118 48457118 single base substitution C T exon_variant OV-AU X 48457118 48457118 single base substitution C T intron_variant OV-AU X 48457118 48457118 single base substitution C T missense_variant R19C 55C>T OV-AU X 48457118 48457118 single base substitution C T upstream_gene_variant OV-AU X 48458388 48458388 single base substitution A G downstream_gene_variant OV-AU X 48458388 48458388 single base substitution A G exon_variant OV-AU X 48458388 48458388 single base substitution A G intron_variant OV-AU X 48458388 48458388 single base substitution A G upstream_gene_variant OV-AU X 48464254 48464254 single base substitution G C downstream_gene_variant OV-US X 48458030 48458030 single base substitution G A downstream_gene_variant OV-US X 48458030 48458030 single base substitution G A exon_variant OV-US X 48458030 48458030 single base substitution G A missense_variant G150R 448G>A OV-US X 48458030 48458030 single base substitution G A upstream_gene_variant PACA-AU X 48443511 48443511 single base substitution A T upstream_gene_variant PACA-AU X 48444121 48444121 single base substitution C A upstream_gene_variant PACA-AU X 48447024 48447024 single base substitution C T upstream_gene_variant PACA-AU X 48447280 48447280 single base substitution T C upstream_gene_variant PACA-AU X 48448621 48448621 single base substitution C A exon_variant PACA-AU X 48450684 48450684 single base substitution A G intron_variant PACA-AU X 48450829 48450829 single base substitution C A intron_variant PACA-AU X 48451408 48451408 single base substitution C T intron_variant PACA-AU X 48451408 48451408 single base substitution C T upstream_gene_variant PACA-AU X 48451674 48451695 deletion of <=200bp TGGCTCCTCCCGTTTCTCTCTC - intron_variant PACA-AU X 48451674 48451695 deletion of <=200bp TGGCTCCTCCCGTTTCTCTCTC - upstream_gene_variant PACA-AU X 48454548 48454591 deletion of <=200bp AAAACATTGTTGAATTGATTGTATTTGTTATAAAAATAATGTGG - intron_variant PACA-AU X 48454548 48454591 deletion of <=200bp AAAACATTGTTGAATTGATTGTATTTGTTATAAAAATAATGTGG - upstream_gene_variant PACA-AU X 48457893 48457893 single base substitution A G downstream_gene_variant PACA-AU X 48457893 48457893 single base substitution A G intron_variant PACA-AU X 48457893 48457893 single base substitution A G upstream_gene_variant PACA-AU X 48462985 48462985 single base substitution G T downstream_gene_variant PACA-AU X 48462985 48462985 single base substitution G T intron_variant PACA-AU X 48463334 48463334 single base substitution G C downstream_gene_variant PACA-AU X 48463334 48463334 single base substitution G C exon_variant PACA-AU X 48463334 48463334 single base substitution G C missense_variant D458H 1372G>C PACA-AU X 48467809 48467809 single base substitution T A downstream_gene_variant PACA-CA X 48444229 48444229 single base substitution C A upstream_gene_variant PACA-CA X 48444607 48444607 single base substitution G T upstream_gene_variant PACA-CA X 48444648 48444648 single base substitution C T upstream_gene_variant PACA-CA X 48453630 48453630 single base substitution G T intron_variant PACA-CA X 48453630 48453630 single base substitution G T upstream_gene_variant PACA-CA X 48455965 48455965 single base substitution G A 5_prime_UTR_variant PACA-CA X 48455965 48455965 single base substitution G A exon_variant PACA-CA X 48455965 48455965 single base substitution G A intron_variant PACA-CA X 48455965 48455965 single base substitution G A upstream_gene_variant PACA-CA X 48457956 48457956 single base substitution A G downstream_gene_variant PACA-CA X 48457956 48457956 single base substitution A G exon_variant PACA-CA X 48457956 48457956 single base substitution A G intron_variant PACA-CA X 48457956 48457956 single base substitution A G upstream_gene_variant PACA-CA X 48458241 48458241 single base substitution A C downstream_gene_variant PACA-CA X 48458241 48458241 single base substitution A C exon_variant PACA-CA X 48458241 48458241 single base substitution A C intron_variant PACA-CA X 48458241 48458241 single base substitution A C upstream_gene_variant PACA-CA X 48459118 48459118 insertion of <=200bp - C downstream_gene_variant PACA-CA X 48459118 48459118 insertion of <=200bp - C intron_variant PACA-CA X 48459118 48459118 insertion of <=200bp - C upstream_gene_variant PACA-CA X 48461717 48461717 single base substitution T A downstream_gene_variant PACA-CA X 48461717 48461717 single base substitution T A intron_variant PACA-CA X 48461717 48461717 single base substitution T A upstream_gene_variant PACA-CA X 48467584 48467584 single base substitution G A downstream_gene_variant PAEN-AU X 48457037 48457037 single base substitution C T downstream_gene_variant PAEN-AU X 48457037 48457037 single base substitution C T exon_variant PAEN-AU X 48457037 48457037 single base substitution C T intron_variant PAEN-AU X 48457037 48457037 single base substitution C T upstream_gene_variant PAEN-AU X 48459680 48459680 single base substitution G A downstream_gene_variant PAEN-AU X 48459680 48459680 single base substitution G A intron_variant PAEN-AU X 48459680 48459680 single base substitution G A upstream_gene_variant PBCA-DE X 48443502 48443502 insertion of <=200bp - T upstream_gene_variant PBCA-DE X 48445579 48445580 deletion of <=200bp GT - upstream_gene_variant PBCA-DE X 48459119 48459119 single base substitution C G downstream_gene_variant PBCA-DE X 48459119 48459119 single base substitution C G intron_variant PBCA-DE X 48459119 48459119 single base substitution C G upstream_gene_variant PBCA-DE X 48467402 48467402 single base substitution A T downstream_gene_variant PRAD-CA X 48465858 48465858 single base substitution C A downstream_gene_variant PRAD-UK X 48468548 48468548 single base substitution T C downstream_gene_variant READ-US X 48457274 48457274 single base substitution G A downstream_gene_variant READ-US X 48457274 48457274 single base substitution G A exon_variant READ-US X 48457274 48457274 single base substitution G A missense_variant E71K 211G>A READ-US X 48457274 48457274 single base substitution G A upstream_gene_variant RECA-EU X 48461195 48461195 single base substitution T G downstream_gene_variant RECA-EU X 48461195 48461195 single base substitution T G intron_variant RECA-EU X 48461195 48461195 single base substitution T G upstream_gene_variant RECA-EU X 48463352 48463352 single base substitution G T downstream_gene_variant RECA-EU X 48463352 48463352 single base substitution G T exon_variant RECA-EU X 48463352 48463352 single base substitution G T missense_variant D464Y 1390G>T SKCA-BR X 48445578 48445578 insertion of <=200bp - GGT upstream_gene_variant SKCA-BR X 48449199 48449199 single base substitution C T intron_variant SKCA-BR X 48449704 48449704 single base substitution T C intron_variant SKCA-BR X 48449738 48449738 single base substitution G A intron_variant SKCA-BR X 48450956 48450956 insertion of <=200bp - GC intron_variant SKCA-BR X 48450956 48450956 insertion of <=200bp - GC upstream_gene_variant SKCA-BR X 48452154 48452154 single base substitution G A intron_variant SKCA-BR X 48452154 48452154 single base substitution G A upstream_gene_variant SKCA-BR X 48454302 48454302 insertion of <=200bp - CA intron_variant SKCA-BR X 48454302 48454302 insertion of <=200bp - CA upstream_gene_variant SKCA-BR X 48460837 48460837 single base substitution C T downstream_gene_variant SKCA-BR X 48460837 48460837 single base substitution C T intron_variant SKCA-BR X 48460837 48460837 single base substitution C T upstream_gene_variant SKCA-BR X 48461507 48461507 single base substitution G A downstream_gene_variant SKCA-BR X 48461507 48461507 single base substitution G A intron_variant SKCA-BR X 48461507 48461507 single base substitution G A upstream_gene_variant SKCM-US X 48457988 48457988 single base substitution G A downstream_gene_variant SKCM-US X 48457988 48457988 single base substitution G A exon_variant SKCM-US X 48457988 48457988 single base substitution G A missense_variant V136M 406G>A SKCM-US X 48457988 48457988 single base substitution G A splice_region_variant SKCM-US X 48457988 48457988 single base substitution G A upstream_gene_variant SKCM-US X 48458075 48458075 single base substitution C G downstream_gene_variant SKCM-US X 48458075 48458075 single base substitution C G exon_variant SKCM-US X 48458075 48458075 single base substitution C G missense_variant H165D 493C>G SKCM-US X 48458075 48458075 single base substitution C G upstream_gene_variant SKCM-US X 48458948 48458948 single base substitution C T downstream_gene_variant SKCM-US X 48458948 48458948 single base substitution C T exon_variant SKCM-US X 48458948 48458948 single base substitution C T synonymous_variant I255I 765C>T SKCM-US X 48458948 48458948 single base substitution C T upstream_gene_variant SKCM-US X 48463292 48463292 single base substitution G A downstream_gene_variant SKCM-US X 48463292 48463292 single base substitution G A exon_variant SKCM-US X 48463292 48463292 single base substitution G A missense_variant A444T 1330G>A SKCM-US X 48463396 48463396 single base substitution C T downstream_gene_variant SKCM-US X 48463396 48463396 single base substitution C T exon_variant SKCM-US X 48463396 48463396 single base substitution C T synonymous_variant I478I 1434C>T STAD-US X 48457143 48457143 single base substitution G A downstream_gene_variant STAD-US X 48457143 48457143 single base substitution G A exon_variant STAD-US X 48457143 48457143 single base substitution G A missense_variant R27Q 80G>A STAD-US X 48457143 48457143 single base substitution G A upstream_gene_variant STAD-US X 48457775 48457775 single base substitution G A downstream_gene_variant STAD-US X 48457775 48457775 single base substitution G A exon_variant STAD-US X 48457775 48457775 single base substitution G A missense_variant R106H 317G>A STAD-US X 48457775 48457775 single base substitution G A upstream_gene_variant STAD-US X 48457987 48457987 single base substitution C T downstream_gene_variant STAD-US X 48457987 48457987 single base substitution C T exon_variant STAD-US X 48457987 48457987 single base substitution C T splice_region_variant STAD-US X 48457987 48457987 single base substitution C T synonymous_variant S135S 405C>T STAD-US X 48457987 48457987 single base substitution C T upstream_gene_variant STAD-US X 48458100 48458100 single base substitution A C downstream_gene_variant STAD-US X 48458100 48458100 single base substitution A C exon_variant STAD-US X 48458100 48458100 single base substitution A C missense_variant E173A 518A>C STAD-US X 48458100 48458100 single base substitution A C upstream_gene_variant STAD-US X 48458724 48458724 single base substitution G A downstream_gene_variant STAD-US X 48458724 48458724 single base substitution G A exon_variant STAD-US X 48458724 48458724 single base substitution G A missense_variant A181T 541G>A STAD-US X 48458724 48458724 single base substitution G A upstream_gene_variant STAD-US X 48458825 48458825 single base substitution G A downstream_gene_variant STAD-US X 48458825 48458825 single base substitution G A exon_variant STAD-US X 48458825 48458825 single base substitution G A synonymous_variant R214R 642G>A STAD-US X 48458825 48458825 single base substitution G A upstream_gene_variant STAD-US X 48458953 48458953 single base substitution A G downstream_gene_variant STAD-US X 48458953 48458953 single base substitution A G exon_variant STAD-US X 48458953 48458953 single base substitution A G missense_variant D257G 770A>G STAD-US X 48458953 48458953 single base substitution A G upstream_gene_variant STAD-US X 48460231 48460231 single base substitution G A downstream_gene_variant STAD-US X 48460231 48460231 single base substitution G A exon_variant STAD-US X 48460231 48460231 single base substitution G A synonymous_variant K297K 891G>A STAD-US X 48460231 48460231 single base substitution G A upstream_gene_variant THCA-SA X 48456962 48456962 single base substitution C T downstream_gene_variant THCA-SA X 48456962 48456962 single base substitution C T exon_variant THCA-SA X 48456962 48456962 single base substitution C T intron_variant THCA-SA X 48456962 48456962 single base substitution C T upstream_gene_variant UCEC-US X 48457146 48457146 single base substitution C T downstream_gene_variant UCEC-US X 48457146 48457146 single base substitution C T exon_variant UCEC-US X 48457146 48457146 single base substitution C T missense_variant T28M 83C>T UCEC-US X 48457146 48457146 single base substitution C T upstream_gene_variant UCEC-US X 48457832 48457832 single base substitution G A downstream_gene_variant UCEC-US X 48457832 48457832 single base substitution G A exon_variant UCEC-US X 48457832 48457832 single base substitution G A missense_variant R125H 374G>A UCEC-US X 48457832 48457832 single base substitution G A upstream_gene_variant UCEC-US X 48458046 48458046 single base substitution G A downstream_gene_variant UCEC-US X 48458046 48458046 single base substitution G A exon_variant UCEC-US X 48458046 48458046 single base substitution G A missense_variant S155N 464G>A UCEC-US X 48458046 48458046 single base substitution G A upstream_gene_variant UCEC-US X 48458064 48458064 single base substitution C T downstream_gene_variant UCEC-US X 48458064 48458064 single base substitution C T exon_variant UCEC-US X 48458064 48458064 single base substitution C T missense_variant A161V 482C>T UCEC-US X 48458064 48458064 single base substitution C T upstream_gene_variant UCEC-US X 48458718 48458718 single base substitution C T downstream_gene_variant UCEC-US X 48458718 48458718 single base substitution C T exon_variant UCEC-US X 48458718 48458718 single base substitution C T missense_variant R179C 535C>T UCEC-US X 48458718 48458718 single base substitution C T upstream_gene_variant UCEC-US X 48458724 48458724 single base substitution G A downstream_gene_variant UCEC-US X 48458724 48458724 single base substitution G A exon_variant UCEC-US X 48458724 48458724 single base substitution G A missense_variant A181T 541G>A UCEC-US X 48458724 48458724 single base substitution G A upstream_gene_variant UCEC-US X 48458737 48458737 single base substitution G A downstream_gene_variant UCEC-US X 48458737 48458737 single base substitution G A exon_variant UCEC-US X 48458737 48458737 single base substitution G A missense_variant R185Q 554G>A UCEC-US X 48458737 48458737 single base substitution G A upstream_gene_variant UCEC-US X 48458814 48458814 single base substitution C T downstream_gene_variant UCEC-US X 48458814 48458814 single base substitution C T exon_variant UCEC-US X 48458814 48458814 single base substitution C T missense_variant R211C 631C>T UCEC-US X 48458814 48458814 single base substitution C T upstream_gene_variant UCEC-US X 48460405 48460405 single base substitution G A downstream_gene_variant UCEC-US X 48460405 48460405 single base substitution G A intron_variant UCEC-US X 48460405 48460405 single base substitution G A upstream_gene_variant UCEC-US X 48463354 48463354 single base substitution C T downstream_gene_variant UCEC-US X 48463354 48463354 single base substitution C T exon_variant UCEC-US X 48463354 48463354 single base substitution C T synonymous_variant D464D 1392C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-AP-A051-01 COSM1122103 c.83C>T p.T28M Substitution - Missense 23:48598758-48598758 + TCGA-61-1740-01 COSM1122125 c.1392C>T p.D464D Substitution - coding silent 23:48604966-48604966 + TCGA-30-1718-01 COSM1331838 c.988T>C p.S330P Substitution - Missense 23:48601940-48601940 + TCGA-MY-A5BE-01 COSM1122121 c.631C>T p.R211C Substitution - Missense 23:48600426-48600426 + TCGA-E2-A15M-01 COSM1491007 c.718A>G p.T240A Substitution - Missense 23:48600513-48600513 + PTC-14C COSM4156873 c.805C>A p.Q269K Substitution - Missense 23:48600600-48600600 + TCGA-CM-5861-01 COSM1122117 c.541G>A p.A181T Substitution - Missense 23:48600336-48600336 + TCGA-DK-A1AF-01 COSM1315548 c.864G>A p.M288I Substitution - Missense 23:48601816-48601816 + TCGA-CK-4951-01 COSM5153509 c.42-2A>T p.? Unknown 23:48598715-48598715 + TCGA-AG-3892-01 COSM258362 c.1029C>A p.A343A Substitution - coding silent 23:48602081-48602081 + PD24202a COSM5771436 c.325C>A p.R109S Substitution - Missense 23:48599395-48599395 + TCGA-HU-A4GQ-01 COSM4109770 c.518A>C p.E173A Substitution - Missense 23:48599712-48599712 + TCGA-66-2756-01 COSM757141 c.1451A>T p.Q484L Substitution - Missense 23:48605025-48605025 + HCC116 COSM1625934 c.469A>T p.N157Y Substitution - Missense 23:48599663-48599663 + PT09_1 COSM5895124 c.1454A>T p.K485M Substitution - Missense 23:48605028-48605028 + Pat_41_B COSM5877927 c.1154+1G>A p.? Unknown 23:48602207-48602207 + CSCC-44-T COSM4465972 c.140C>T p.P47L Substitution - Missense 23:48598815-48598815 + PARPNM COSM5005730 c.497T>C p.V166A Substitution - Missense 23:48599691-48599691 + HCT116 COSM4632518 c.583G>A p.G195S Substitution - Missense 23:48600378-48600378 + 61 COSM5742265 c.611C>A p.P204H Substitution - Missense 23:48600406-48600406 + DN14011 COSM5962336 c.194G>A p.R65H Substitution - Missense 23:48598869-48598869 + TCGA-AG-4001-01 COSM289325 c.328C>T p.R110C Substitution - Missense 23:48599398-48599398 + 424 COSM4432670 c.1096G>A p.E366K Substitution - Missense 23:48602148-48602148 + T3724 COSM4740854 c.1296C>T p.C432C Substitution - coding silent 23:48604870-48604870 + T3668 COSM4740846 c.329G>A p.R110H Substitution - Missense 23:48599399-48599399 + TCGA-13-0791-01 COSM77006 c.448G>A p.G150R Substitution - Missense 23:48599642-48599642 + BN24 COSM1625936 c.1256G>A p.R419H Substitution - Missense 23:48604373-48604373 + TCGA-C8-A26V-01 COSM1491010 c.1383C>T p.F461F Substitution - coding silent 23:48604957-48604957 + TCGA-A7-A4SE-01 COSM3844843 c.831+6G>T p.? Unknown 23:48600632-48600632 + 2217540 COSM4422119 c.1194C>A p.S398R Substitution - Missense 23:48604311-48604311 + TCGA-AZ-4313-01 COSM78771 c.259C>T p.R87C Substitution - Missense 23:48598934-48598934 + TCGA-AA-A01D-01 COSM299807 c.1323G>C p.A441A Substitution - coding silent 23:48604897-48604897 + LOVO COSM2966456 c.260G>A p.R87H Substitution - Missense 23:48598935-48598935 + 19 COSM5748294 c.161A>G p.Y54C Substitution - Missense 23:48598836-48598836 + TCGA-A8-A09W-01 COSM457584 c.147G>A p.A49A Substitution - coding silent 23:48598822-48598822 + HCC068T COSM5824188 c.326G>T p.R109L Substitution - Missense 23:48599396-48599396 + TCGA-BR-A4QM-01 COSM4109768 c.405C>T p.S135S Substitution - coding silent 23:48599599-48599599 + TCGA-ER-A199-06 COSM3561958 c.1434C>T p.I478I Substitution - coding silent 23:48605008-48605008 + T2948 COSM4740852 c.1103G>A p.R368Q Substitution - Missense 23:48602155-48602155 + HCC116T COSM1625934 c.469A>T p.N157Y Substitution - Missense 23:48599663-48599663 + TCGA-AA-A022-01 COSM5125013 c.130G>A p.A44T Substitution - Missense 23:48598805-48598805 + TCGA-AG-3891-01 COSM5068650 c.891delG p.G299fs*5 Deletion - Frameshift 23:48601843-48601843 + TCGA-E2-A570-01 COSM3844845 c.1166A>G p.N389S Substitution - Missense 23:48604283-48604283 + TCGA-HJ-7597-01 COSM4109766 c.317G>A p.R106H Substitution - Missense 23:48599387-48599387 + YUKAT COSM5412741 c.1191A>G p.R397R Substitution - coding silent 23:48604308-48604308 + QC2-35-T2 COSM2966448 c.51G>A p.A17A Substitution - coding silent 23:48598726-48598726 + S00836 COSM316506 c.1155G>C p.R385S Substitution - Missense 23:48604272-48604272 + TCGA-FW-A3R5-06 COSM3914032 c.765C>T p.I255I Substitution - coding silent 23:48600560-48600560 + TCGA-25-1630-01 COSM78771 c.259C>T p.R87C Substitution - Missense 23:48598934-48598934 + TCGA-EE-A2GT-06 COSM3561952 c.406G>A p.V136M Substitution - Missense 23:48599600-48599600 + SJOS001105_D1 COSM2966472 c.633C>T p.R211R Substitution - coding silent 23:48600428-48600428 + 9114_T COSM5041143 c.1163A>G p.D388G Substitution - Missense 23:48604280-48604280 + TCGA-A7-A0D9-01 COSM457586 c.319delG p.H108fs*16 Deletion - Frameshift 23:48599389-48599389 + TCGA-IR-A3LK-01 COSM4817481 c.757C>T p.R253* Substitution - Nonsense 23:48600552-48600552 + TCGA-BR-8363-01 COSM4109774 c.770A>G p.D257G Substitution - Missense 23:48600565-48600565 + LUAD-RT-S01477 COSM377782 c.976G>T p.G326C Substitution - Missense 23:48601928-48601928 + TCGA-A2-A3Y0-01 COSM1122117 c.541G>A p.A181T Substitution - Missense 23:48600336-48600336 + YUOTHO COSM3914032 c.765C>T p.I255I Substitution - coding silent 23:48600560-48600560 + TCGA-27-2521-01 COSM3406415 c.582C>T p.D194D Substitution - coding silent 23:48600377-48600377 + TCGA-CK-4951-01 COSM5153511 c.229G>T p.A77S Substitution - Missense 23:48598904-48598904 + 39 COSM5733847 c.362C>T p.A121V Substitution - Missense 23:48599432-48599432 + I2L-P10-Tumor-Organoid COSM5366903 c.653G>A p.R218H Substitution - Missense 23:48600448-48600448 + TCGA-BR-6452-01 COSM4109764 c.80G>A p.R27Q Substitution - Missense 23:48598755-48598755 + TCGA-D1-A15X-01 COSM1122125 c.1392C>T p.D464D Substitution - coding silent 23:48604966-48604966 + TCGA-AP-A059-01 COSM1122106 c.374G>A p.R125H Substitution - Missense 23:48599444-48599444 + 8057700 COSM3390673 c.1372G>C p.D458H Substitution - Missense 23:48604946-48604946 + TCGA-BR-4280-01 COSM1122117 c.541G>A p.A181T Substitution - Missense 23:48600336-48600336 + BD135T COSM5412739 c.172C>T p.R58W Substitution - Missense 23:48598847-48598847 + LUAD-NYU263 COSM372343 c.314C>G p.A105G Substitution - Missense 23:48599384-48599384 + TCGA-E9-A5UO-01 COSM3844841 c.504C>T p.D168D Substitution - coding silent 23:48599698-48599698 + TCGA-B0-4817-01 COSM3364018 c.449G>T p.G150V Substitution - Missense 23:48599643-48599643 + T2769 COSM4740848 c.417G>A p.T139T Substitution - coding silent 23:48599611-48599611 + HCC126T COSM5818850 c.152G>T p.R51L Substitution - Missense 23:48598827-48598827 + SNU-C2B COSM2966448 c.51G>A p.A17A Substitution - coding silent 23:48598726-48598726 + RK308_C01 COSM3766968 c.1435G>A p.V479I Substitution - Missense 23:48605009-48605009 + OSCC-GB_00870111 COSM4881538 c.1258C>G p.Q420E Substitution - Missense 23:48604375-48604375 + OSCC-GB_01240111 COSM5953686 c.1338C>T p.V446V Substitution - coding silent 23:48604912-48604912 + TCGA-E9-A1N9-01 COSM1491008 c.962C>T p.A321V Substitution - Missense 23:48601914-48601914 + CSCC-56-T COSM4503661 c.645C>T p.G215G Substitution - coding silent 23:48600440-48600440 + T1182 COSM4740850 c.1095C>A p.R365R Substitution - coding silent 23:48602147-48602147 + TCGA-AK-3460-01 COSM3364020 c.1246A>C p.M416L Substitution - Missense 23:48604363-48604363 + TCGA-BR-6452-01 COSM4109772 c.642G>A p.R214R Substitution - coding silent 23:48600437-48600437 + sysucc-1370T COSM5472886 c.7G>A p.A3T Substitution - Missense 23:48598003-48598003 + TCGA-AG-4015-01 COSM5071444 c.897C>T p.G299G Substitution - coding silent 23:48601849-48601849 + Case1 COSM1579133 c.152G>A p.R51H Substitution - Missense 23:48598827-48598827 + TCGA-BP-4165-01 COSM3364016 c.14G>T p.W5L Substitution - Missense 23:48598010-48598010 + TCGA-AP-A059-01 COSM1122112 c.482C>T p.A161V Substitution - Missense 23:48599676-48599676 + TCGA-06-0650-01 COSM3406417 c.1278G>A p.T426T Substitution - coding silent 23:48604852-48604852 + TCGA-AF-A56L-01 COSM1491008 c.962C>T p.A321V Substitution - Missense 23:48601914-48601914 + TCGA-AD-6889-01 COSM1468230 c.1034G>A p.R345H Substitution - Missense 23:48602086-48602086 + 587268 COSM1232549 c.251G>A p.R84H Substitution - Missense 23:48598926-48598926 + TCGA-EK-A2RD-01 COSM4820335 c.996C>T p.L332L Substitution - coding silent 23:48601948-48601948 + C0092T COSM4154962 c.1390G>T p.D464Y Substitution - Missense 23:48604964-48604964 + TCGA-AG-3732-01 COSM1570147 c.211G>A p.E71K Substitution - Missense 23:48598886-48598886 + TCGA-AD-6889-01 COSM3694776 c.1323G>A p.A441A Substitution - coding silent 23:48604897-48604897 + 8050308 COSM3390673 c.1372G>C p.D458H Substitution - Missense 23:48604946-48604946 + ATL062 COSM5711679 c.1107T>A p.D369E Substitution - Missense 23:48602159-48602159 + BN24T COSM1625936 c.1256G>A p.R419H Substitution - Missense 23:48604373-48604373 + BD57T COSM1468230 c.1034G>A p.R345H Substitution - Missense 23:48602086-48602086 + B59 COSM1122112 c.482C>T p.A161V Substitution - Missense 23:48599676-48599676 + TCGA-AD-6895-01 COSM1468230 c.1034G>A p.R345H Substitution - Missense 23:48602086-48602086 + TCGA-AP-A056-01 COSM1122109 c.464G>A p.S155N Substitution - Missense 23:48599658-48599658 + TCGA-D1-A16Y-01 COSM1122115 c.535C>T p.R179C Substitution - Missense 23:48600330-48600330 + TCGA-AA-3509-01 COSM5098652 c.1167C>T p.N389N Substitution - coding silent 23:48604284-48604284 + TCGA-D7-A4YT-01 COSM4109776 c.891G>A p.K297K Substitution - coding silent 23:48601843-48601843 + Pat_14_B COSM5877925 c.1055G>A p.S352N Substitution - Missense 23:48602107-48602107 + TCGA-23-1114-01 COSM1331840 c.56G>A p.R19H Substitution - Missense 23:48598731-48598731 + TCGA-D3-A51K-06 COSM3561954 c.493C>G p.H165D Substitution - Missense 23:48599687-48599687 + YUOMEGA COSM5412739 c.172C>T p.R58W Substitution - Missense 23:48598847-48598847 + TCGA-AA-3492-01 COSM1468226 c.138delC p.P48fs*8 Deletion - Frameshift 23:48598813-48598813 + PT09_2 COSM5895124 c.1454A>T p.K485M Substitution - Missense 23:48605028-48605028 + TCGA-AP-A0LE-01 COSM1122122 c.1274T>C p.V425A Substitution - Missense 23:48604848-48604848 + TCGA-AX-A060-01 COSM1122119 c.554G>A p.R185Q Substitution - Missense 23:48600349-48600349 + PTC-7C COSM4156875 c.974A>G p.H325R Substitution - Missense TCGA-B5-A0JY-01 COSM1122121 c.631C>T p.R211C Substitution - Missense 23:48600426-48600426 + B59-Tumor COSM1122112 c.482C>T p.A161V Substitution - Missense 23:48599676-48599676 + I2L-P25-Tumor-Organoid COSM5367283 c.1153A>T p.R385W Substitution - Missense 23:48602205-48602205 + TCGA-AR-A2LK-01 COSM3844839 c.455C>T p.T152M Substitution - Missense 23:48599649-48599649 + TCGA-D1-A103-01 COSM1122117 c.541G>A p.A181T Substitution - Missense 23:48600336-48600336 + TCGA-AA-3966-01 COSM273467 c.1344G>A p.K448K Substitution - coding silent 23:48604918-48604918 + AOCS-159-1-9 COSM4149080 c.55C>T p.R19C Substitution - Missense 23:48598730-48598730 + TCGA-FS-A4F5-06 COSM3561956 c.1330G>A p.A444T Substitution - Missense 23:48604904-48604904 + TCGA-AD-6889-01 COSM1468228 c.942C>A p.A314A Substitution - coding silent 23:48601894-48601894 + TCGA-CM-4748-01 COSM5157006 c.503A>G p.D168G Substitution - Missense 23:48599697-48599697 + 214 COSM4424434 c.395C>T p.P132L Substitution - Missense 23:48599589-48599589 + 16461 COSM5616325 c.451G>T p.D151Y Substitution - Missense 23:48599645-48599645 + S00830 COSM5660364 c.108G>C p.Q36H Substitution - Missense 23:48598783-48598783 + TCGA-DK-A3IS-01 COSM1315546 c.268C>T p.L90F Substitution - Missense 23:48598943-48598943 + 260211 COSM3726190 c.1078C>A p.R360R Substitution - coding silent 23:48602130-48602130 + TCGA-CK-4951-01 COSM5153513 c.522A>T p.A174A Substitution - coding silent 23:48599716-48599716 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.521973 Xp11.23 300512

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C IntronicSNV . c.831+76A>C X 48459090 HC A C Missense p.M416L c.1246A>C X 48462751 RCCC A G Missense p.D313G c.938A>G X 48460278 LUAD A G Missense p.T240A c.718A>G X 48458901 BRCA A T Missense p.Q484L c.1451A>T X 48463413 LUSC A T Missense p.Y78F c.233A>T X 48457296 LUAD - CA IntronicInsertion . c.524-79_524-78insCA X 48458628 STAD C A Synonymous p.L232L c.696C>A X 48458879 COREAD C T IntronicSNV . c.831+32C>T X 48459046 CM C T Missense p.A321V c.962C>T X 48460302 BRCA C T Missense p.L90F c.268C>T X 48457331 BLCA C T Missense p.P258L c.773C>T X 48458956 CM C T Missense p.R110C c.328C>T X 48457786 COREAD C T Missense p.R179C c.535C>T X 48458718 UCEC C T Missense p.R87C c.259C>T X 48457322 OV C T Synonymous p.D194D c.582C>T X 48458765 GBM C T Synonymous p.D472D c.1416C>T X 48463378 BRCA C T Synonymous p.F461F c.1383C>T X 48463345 BRCA C T Synonymous p.G299G c.897C>T X 48460237 COREAD C T Synonymous p.I478I c.1434C>T X 48463396 CM C T Synonymous p.T267T c.801C>T X 48458984 CM G A Missense p.A181T c.541G>A X 48458724 STAD G A Missense p.E366K c.1096G>A X 48460536 CM G A Missense p.G150R c.448G>A X 48458030 OV G A Missense p.M288I c.864G>A X 48460204 BLCA G A Missense p.R185Q c.554G>A X 48458737 UCEC G A Missense p.V136M c.406G>A X 48457988 CM G A Missense p.V136M c.406G>A X 48457988 HNSC G A Missense p.V171M c.511G>A X 48458093 HNSC G A Synonymous p.A49A c.147G>A X 48457210 BRCA G A Synonymous p.R360R c.1080G>A X 48460520 CM G A Synonymous p.T426T c.1278G>A X 48463240 GBM G C Missense p.R385S c.1155G>C X 48462660 SCLC G C Synonymous p.A441A c.1323G>C X 48463285 COREAD - G Frameshift p.A102Gfs*28 c.304dupG X 48457760 BRCA G - Frameshift p.H108Tfs*16 c.321delG X 48457777 BRCA G T Missense p.D151Y c.451G>T X 48458033 NSCLC G T Missense p.G150V c.449G>T X 48458031 RCCC G T Missense p.R253L c.758G>T X 48458941 LUAD G T Missense p.W5L c.14G>T X 48456398 RCCC T G Missense p.S145R c.435T>G X 48458017 LUAD T - IntronicDeletion . c.41+307delT X 48456721 RCCC