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 24 14832567 14832567 + Missense_Mutation SNP C C A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 g.chrY:14832567C>A c.142C>A c.(142-144)Cct>Act p.P48T BLCA 24 14837150 14837150 + Missense_Mutation SNP G G A TCGA-ZF-A9RC-01A-11D-A38G-08 TCGA-ZF-A9RC-10A-01D-A38J-08 g.chrY:14837150G>A c.430G>A c.(430-432)Gaa>Aaa p.E144K BLCA 24 14838584 14838584 + Missense_Mutation SNP T T A TCGA-ZF-A9RC-01A-11D-A38G-08 TCGA-ZF-A9RC-10A-01D-A38J-08 g.chrY:14838584T>A c.515T>A c.(514-516)cTa>cAa p.L172Q BLCA 24 14847563 14847563 + Silent SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 g.chrY:14847563C>T c.675C>T c.(673-675)ctC>ctT p.L225L BLCA 24 14848137 14848137 + Missense_Mutation SNP G G A TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 g.chrY:14848137G>A c.979G>A c.(979-981)Gag>Aag p.E327K BLCA 24 14885574 14885574 + Missense_Mutation SNP G G T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chrY:14885574G>T c.2046G>T c.(2044-2046)tgG>tgT p.W682C BLCA 24 14885804 14885804 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chrY:14885804G>C c.2276G>C c.(2275-2277)aGa>aCa p.R759T BLCA 24 14885824 14885824 + Missense_Mutation SNP G G T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chrY:14885824G>T c.2296G>T c.(2296-2298)Gat>Tat p.D766Y BLCA 24 14898191 14898191 + Missense_Mutation SNP G G T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 g.chrY:14898191G>T c.3206G>T c.(3205-3207)gGa>gTa p.G1069V BLCA 24 14922192 14922192 + Frame_Shift_Del DEL C C - TCGA-K4-AAQO-01A-11D-A38G-08 TCGA-K4-AAQO-10A-01D-A38J-08 g.chrY:14922192delC c.4062delC c.(4060-4062)ttcfs p.F1355fs BLCA 24 14952195 14952195 + Missense_Mutation SNP G G T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 g.chrY:14952195G>T c.5743G>T c.(5743-5745)Gat>Tat p.D1915Y BLCA 24 14952353 14952353 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 g.chrY:14952353G>A c.5901G>A c.(5899-5901)atG>atA p.M1967I BLCA 24 14952494 14952494 + Silent SNP G G T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 g.chrY:14952494G>T c.6042G>T c.(6040-6042)gtG>gtT p.V2014V BLCA 24 14958275 14958275 + Missense_Mutation SNP C C A TCGA-DK-AA6S-01A-21D-A391-08 TCGA-DK-AA6S-10A-01D-A394-08 g.chrY:14958275C>A c.6586C>A c.(6586-6588)Cag>Aag p.Q2196K BLCA 24 14958935 14958935 + Missense_Mutation SNP G G A TCGA-UY-A78K-01A-11D-A339-08 TCGA-UY-A78K-10A-01D-A339-08 g.chrY:14958935G>A c.6832G>A c.(6832-6834)Gac>Aac p.D2278N COAD 24 14847611 14847611 + Frame_Shift_Del DEL T T - TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chrY:14847611delT c.723delT c.(721-723)cgtfs p.R241fs COAD 24 14847976 14847976 + Missense_Mutation SNP A A C TCGA-AA-3558-01A-01W-0831-10 TCGA-AA-3558-10A-01W-0831-10 g.chrY:14847976A>C c.818A>C c.(817-819)aAa>aCa p.K273T COAD 24 14848048 14848048 + Missense_Mutation SNP A A C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chrY:14848048A>C c.890A>C c.(889-891)aAg>aCg p.K297T COAD 24 14883079 14883079 + Missense_Mutation SNP A A C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chrY:14883079A>C c.1978A>C c.(1978-1980)Aac>Cac p.N660H COAD 24 14898677 14898677 + Nonsense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chrY:14898677C>T c.3505C>T c.(3505-3507)Cga>Tga p.R1169* COAD 24 14903483 14903483 + Missense_Mutation SNP A A G TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chrY:14903483A>G c.3739A>G c.(3739-3741)Atc>Gtc p.I1247V COAD 24 14922685 14922685 + Missense_Mutation SNP G G A TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chrY:14922685G>A c.4171G>A c.(4171-4173)Ggc>Agc p.G1391S COAD 24 14922748 14922748 + Missense_Mutation SNP A A G TCGA-AA-3525-01A-02W-0833-10 TCGA-AA-3525-10A-01W-0833-10 g.chrY:14922748A>G c.4234A>G c.(4234-4236)Att>Gtt p.I1412V COAD 24 14924968 14924968 + Nonsense_Mutation SNP C C G TCGA-AA-3939-01A-01W-0995-10 TCGA-AA-3939-10A-01W-0995-10 g.chrY:14924968C>G c.4590C>G c.(4588-4590)taC>taG p.Y1530* COAD 24 14928229 14928229 + Missense_Mutation SNP G G T TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chrY:14928229G>T c.4780G>T c.(4780-4782)Ggt>Tgt p.G1594C COAD 24 14952971 14952971 + Missense_Mutation SNP A A G TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chrY:14952971A>G c.6124A>G c.(6124-6126)Act>Gct p.T2042A COAD 24 14953040 14953040 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chrY:14953040C>T c.6193C>T c.(6193-6195)Cgt>Tgt p.R2065C COAD 24 14958901 14958901 + Silent SNP A A G TCGA-AA-3712-01A-21D-1719-10 TCGA-AA-3712-11A-01D-1719-10 g.chrY:14958901A>G c.6798A>G c.(6796-6798)tcA>tcG p.S2266S COADREAD 24 14847611 14847611 + Frame_Shift_Del DEL T T - TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chrY:14847611delT c.723delT c.(721-723)cgtfs p.R241fs COADREAD 24 14847976 14847976 + Missense_Mutation SNP A A C TCGA-AA-3558-01A-01W-0831-10 TCGA-AA-3558-10A-01W-0831-10 g.chrY:14847976A>C c.818A>C c.(817-819)aAa>aCa p.K273T COADREAD 24 14848048 14848048 + Missense_Mutation SNP A A C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chrY:14848048A>C c.890A>C c.(889-891)aAg>aCg p.K297T COADREAD 24 14883079 14883079 + Missense_Mutation SNP A A C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chrY:14883079A>C c.1978A>C c.(1978-1980)Aac>Cac p.N660H COADREAD 24 14887456 14887456 + Missense_Mutation SNP A A G TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chrY:14887456A>G c.2383A>G c.(2383-2385)Aaa>Gaa p.K795E COADREAD 24 14898677 14898677 + Nonsense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chrY:14898677C>T c.3505C>T c.(3505-3507)Cga>Tga p.R1169* COADREAD 24 14903483 14903483 + Missense_Mutation SNP A A G TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chrY:14903483A>G c.3739A>G c.(3739-3741)Atc>Gtc p.I1247V COADREAD 24 14922685 14922685 + Missense_Mutation SNP G G A TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chrY:14922685G>A c.4171G>A c.(4171-4173)Ggc>Agc p.G1391S COADREAD 24 14922748 14922748 + Missense_Mutation SNP A A G TCGA-AA-3525-01A-02W-0833-10 TCGA-AA-3525-10A-01W-0833-10 g.chrY:14922748A>G c.4234A>G c.(4234-4236)Att>Gtt p.I1412V COADREAD 24 14924968 14924968 + Nonsense_Mutation SNP C C G TCGA-AA-3939-01A-01W-0995-10 TCGA-AA-3939-10A-01W-0995-10 g.chrY:14924968C>G c.4590C>G c.(4588-4590)taC>taG p.Y1530* COADREAD 24 14928229 14928229 + Missense_Mutation SNP G G T TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chrY:14928229G>T c.4780G>T c.(4780-4782)Ggt>Tgt p.G1594C COADREAD 24 14951946 14951946 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chrY:14951946G>T c.5494G>T c.(5494-5496)Gca>Tca p.A1832S COADREAD 24 14952971 14952971 + Missense_Mutation SNP A A G TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chrY:14952971A>G c.6124A>G c.(6124-6126)Act>Gct p.T2042A COADREAD 24 14953040 14953040 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chrY:14953040C>T c.6193C>T c.(6193-6195)Cgt>Tgt p.R2065C COADREAD 24 14958901 14958901 + Silent SNP A A G TCGA-AA-3712-01A-21D-1719-10 TCGA-AA-3712-11A-01D-1719-10 g.chrY:14958901A>G c.6798A>G c.(6796-6798)tcA>tcG p.S2266S ESCA 24 14821396 14821396 + Missense_Mutation SNP C C G TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 g.chrY:14821396C>G c.16C>G c.(16-18)Cat>Gat p.H6D ESCA 24 14898609 14898609 + Missense_Mutation SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 g.chrY:14898609G>T c.3437G>T c.(3436-3438)aGg>aTg p.R1146M ESCA 24 14924810 14924810 + Nonsense_Mutation SNP C C T TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 g.chrY:14924810C>T c.4432C>T c.(4432-4434)Cag>Tag p.Q1478* ESCA 24 14951885 14951885 + Silent SNP A A C TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 g.chrY:14951885A>C c.5433A>C c.(5431-5433)gcA>gcC p.A1811A ESCA 24 14954277 14954277 + Silent SNP C C T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 g.chrY:14954277C>T c.6324C>T c.(6322-6324)tgC>tgT p.C2108C HNSC 24 14832660 14832660 + Missense_Mutation SNP A A T TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 g.chrY:14832660A>T c.235A>T c.(235-237)Atg>Ttg p.M79L HNSC 24 14885611 14885611 + Missense_Mutation SNP C C G TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 g.chrY:14885611C>G c.2083C>G c.(2083-2085)Cgt>Ggt p.R695G KICH 24 14888667 14888667 + Frame_Shift_Del DEL A A - TCGA-KN-8430-01A-11D-2310-10 TCGA-KN-8430-11A-01D-2311-10 g.chrY:14888667delA c.2512delA c.(2512-2514)aaafs p.K838fs KIPAN 24 14850172 14850172 + Nonsense_Mutation SNP A A T TCGA-CJ-5672-01A-11D-1534-10 TCGA-CJ-5672-11A-01D-1534-10 g.chrY:14850172A>T c.1246A>T c.(1246-1248)Aaa>Taa p.K416* KIPAN 24 14888667 14888667 + Frame_Shift_Del DEL A A - TCGA-KN-8430-01A-11D-2310-10 TCGA-KN-8430-11A-01D-2311-10 g.chrY:14888667delA c.2512delA c.(2512-2514)aaafs p.K838fs KIPAN 24 14952324 14952324 + Missense_Mutation SNP A A G TCGA-BP-4799-01A-01D-1373-10 TCGA-BP-4799-11A-01D-1373-10 g.chrY:14952324A>G c.5872A>G c.(5872-5874)Atg>Gtg p.M1958V KIRC 24 14850172 14850172 + Nonsense_Mutation SNP A A T TCGA-CJ-5672-01A-11D-1534-10 TCGA-CJ-5672-11A-01D-1534-10 g.chrY:14850172A>T c.1246A>T c.(1246-1248)Aaa>Taa p.K416* KIRC 24 14952324 14952324 + Missense_Mutation SNP A A G TCGA-BP-4799-01A-01D-1373-10 TCGA-BP-4799-11A-01D-1373-10 g.chrY:14952324A>G c.5872A>G c.(5872-5874)Atg>Gtg p.M1958V LIHC 24 14885659 14885659 + Missense_Mutation SNP G G A TCGA-BD-A3ER-01A-11D-A20W-10 TCGA-BD-A3ER-11A-11D-A20W-10 g.chrY:14885659G>A c.2131G>A c.(2131-2133)Gac>Aac p.D711N LIHC 24 14928278 14928278 + Splice_Site SNP A A G TCGA-FV-A2QR-01A-11D-A20W-10 TCGA-FV-A2QR-11A-11D-A20W-10 g.chrY:14928278A>G c.4829A>G c.(4828-4830)gAg>gGg p.E1610G LIHC 24 14951877 14951877 + Nonsense_Mutation SNP G G T TCGA-CC-A5UE-01A-11D-A28X-10 TCGA-CC-A5UE-10A-01D-A28X-10 g.chrY:14951877G>T c.5425G>T c.(5425-5427)Gaa>Taa p.E1809* LIHC 24 14951989 14951989 + Missense_Mutation SNP A A G TCGA-FV-A2QR-01A-11D-A20W-10 TCGA-FV-A2QR-11A-11D-A20W-10 g.chrY:14951989A>G c.5537A>G c.(5536-5538)aAt>aGt p.N1846S LIHC 24 14968377 14968377 + Missense_Mutation SNP G G T TCGA-FV-A3R2-01A-11D-A22F-10 TCGA-FV-A3R2-11A-11D-A22F-10 g.chrY:14968377G>T c.7177G>T c.(7177-7179)Gta>Tta p.V2393L LUAD 24 14838715 14838715 + Nonsense_Mutation SNP C C T TCGA-93-8067-01A-11D-2284-08 TCGA-93-8067-10A-01D-2284-08 g.chrY:14838715C>T c.646C>T c.(646-648)Cga>Tga p.R216* LUAD 24 14851540 14851540 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 g.chrY:14851540G>T c.1399G>T c.(1399-1401)Gat>Tat p.D467Y LUAD 24 14890150 14890150 + Missense_Mutation SNP A A T TCGA-44-8120-01A-11D-2238-08 TCGA-44-8120-10A-01D-2238-08 g.chrY:14890150A>T c.2837A>T c.(2836-2838)gAt>gTt p.D946V LUAD 24 14903476 14903476 + Silent SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 g.chrY:14903476G>A c.3732G>A c.(3730-3732)caG>caA p.Q1244Q LUAD 24 14959240 14959240 + Frame_Shift_Del DEL G G - TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 g.chrY:14959240delG c.7052delG c.(7051-7053)tggfs p.W2351fs LUSC 24 14888737 14888737 + Missense_Mutation SNP A A G TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 g.chrY:14888737A>G c.2582A>G c.(2581-2583)tAc>tGc p.Y861C LUSC 24 14922619 14922619 + Missense_Mutation SNP G G C TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 g.chrY:14922619G>C c.4105G>C c.(4105-4107)Gag>Cag p.E1369Q LUSC 24 14959215 14959215 + Missense_Mutation SNP C C A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 g.chrY:14959215C>A c.7027C>A c.(7027-7029)Caa>Aaa p.Q2343K PRAD 24 14924838 14924838 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chrY:14924838C>T c.4460C>T c.(4459-4461)gCt>gTt p.A1487V READ 24 14887456 14887456 + Missense_Mutation SNP A A G TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chrY:14887456A>G c.2383A>G c.(2383-2385)Aaa>Gaa p.K795E READ 24 14951946 14951946 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chrY:14951946G>T c.5494G>T c.(5494-5496)Gca>Tca p.A1832S SARC 24 14902412 14902412 + Missense_Mutation SNP G G A TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 g.chrY:14902412G>A c.3634G>A c.(3634-3636)Gag>Aag p.E1212K SKCM 24 14848359 14848359 + Missense_Mutation SNP C C T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 g.chrY:14848359C>T c.1040C>T c.(1039-1041)tCc>tTc p.S347F SKCM 24 14889987 14889987 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chrY:14889987C>T c.2674C>T c.(2674-2676)Cgg>Tgg p.R892W SKCM 24 14889989 14889989 + Silent SNP G G A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 g.chrY:14889989G>A c.2676G>A c.(2674-2676)cgG>cgA p.R892R SKCM 24 14891492 14891492 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chrY:14891492C>T c.3063C>T c.(3061-3063)ttC>ttT p.F1021F SKCM 24 14891493 14891493 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chrY:14891493C>T c.3064C>T c.(3064-3066)Ctt>Ttt p.L1022F SKCM 24 14902403 14902403 + Missense_Mutation SNP C C T TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chrY:14902403C>T c.3625C>T c.(3625-3627)Ccc>Tcc p.P1209S SKCM 24 14923709 14923709 + Missense_Mutation SNP T T A TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chrY:14923709T>A c.4379T>A c.(4378-4380)cTc>cAc p.L1460H SKCM 24 14928201 14928201 + Silent SNP G G A TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chrY:14928201G>A c.4752G>A c.(4750-4752)agG>agA p.R1584R SKCM 24 14952450 14952450 + Missense_Mutation SNP A A G TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 g.chrY:14952450A>G c.5998A>G c.(5998-6000)Atg>Gtg p.M2000V SKCM 24 14954236 14954236 + Missense_Mutation SNP T T A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chrY:14954236T>A c.6283T>A c.(6283-6285)Ttt>Att p.F2095I SKCM 24 14954330 14954330 + Missense_Mutation SNP A A T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 g.chrY:14954330A>T c.6377A>T c.(6376-6378)cAc>cTc p.H2126L SKCM 24 14954331 14954331 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 g.chrY:14954331C>T c.6378C>T c.(6376-6378)caC>caT p.H2126H SKCM 24 14968653 14968653 + Missense_Mutation SNP T T G TCGA-ER-A19J-06A-11D-A196-08 TCGA-ER-A19J-10A-01D-A198-08 g.chrY:14968653T>G c.7317T>G c.(7315-7317)agT>agG p.S2439R

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 Y 14898529 14898529 single base substitution G A exon_variant BLCA-CN Y 14898529 14898529 single base substitution G A synonymous_variant L1119L 3357G>A BLCA-CN Y 14930394 14930394 single base substitution C T exon_variant BLCA-CN Y 14930394 14930394 single base substitution C T missense_variant H1624Y 4870C>T BLCA-CN Y 14952367 14952367 single base substitution C G exon_variant BLCA-CN Y 14952367 14952367 single base substitution C G stop_gained S1972* 5915C>G BLCA-US Y 14832567 14832567 single base substitution C A exon_variant BLCA-US Y 14832567 14832567 single base substitution C A missense_variant P48T 142C>A BLCA-US Y 14885574 14885574 single base substitution G T exon_variant BLCA-US Y 14885574 14885574 single base substitution G T missense_variant W682C 2046G>T BLCA-US Y 14885804 14885804 single base substitution G C exon_variant BLCA-US Y 14885804 14885804 single base substitution G C missense_variant R759T 2276G>C BLCA-US Y 14885824 14885824 single base substitution G T exon_variant BLCA-US Y 14885824 14885824 single base substitution G T missense_variant D766Y 2296G>T BLCA-US Y 14898191 14898191 single base substitution G T exon_variant BLCA-US Y 14898191 14898191 single base substitution G T missense_variant G1069V 3206G>T BTCA-JP Y 14954418 14954418 single base substitution A T intron_variant BTCA-JP Y 14954418 14954418 single base substitution A T upstream_gene_variant CLLE-ES Y 14833579 14833579 single base substitution C T downstream_gene_variant CLLE-ES Y 14833579 14833579 single base substitution C T intron_variant COAD-US Y 14847611 14847611 deletion of <=200bp T - exon_variant COAD-US Y 14847611 14847611 deletion of <=200bp T - frameshift_variant R241 COAD-US Y 14883079 14883079 single base substitution A C exon_variant COAD-US Y 14883079 14883079 single base substitution A C missense_variant N660H 1978A>C COAD-US Y 14898677 14898677 single base substitution C T exon_variant COAD-US Y 14898677 14898677 single base substitution C T stop_gained R1169* 3505C>T COAD-US Y 14903483 14903483 single base substitution A G exon_variant COAD-US Y 14903483 14903483 single base substitution A G missense_variant I1247V 3739A>G COAD-US Y 14922685 14922685 single base substitution G A exon_variant COAD-US Y 14922685 14922685 single base substitution G A missense_variant G1391S 4171G>A COAD-US Y 14928229 14928229 single base substitution G T exon_variant COAD-US Y 14928229 14928229 single base substitution G T missense_variant G1594C 4780G>T COAD-US Y 14953040 14953040 single base substitution C T exon_variant COAD-US Y 14953040 14953040 single base substitution C T missense_variant R2065C 6193C>T COAD-US Y 14958901 14958901 single base substitution A G exon_variant COAD-US Y 14958901 14958901 single base substitution A G synonymous_variant S2266S 6798A>G COAD-US Y 14958901 14958901 single base substitution A G upstream_gene_variant COCA-CN Y 14821275 14821275 single base substitution G A intron_variant COCA-CN Y 14821275 14821275 single base substitution G A upstream_gene_variant COCA-CN Y 14837085 14837085 single base substitution G A downstream_gene_variant COCA-CN Y 14837085 14837085 single base substitution G A exon_variant COCA-CN Y 14837085 14837085 single base substitution G A missense_variant R122Q 365G>A COCA-CN Y 14902440 14902440 single base substitution T G exon_variant COCA-CN Y 14902440 14902440 single base substitution T G missense_variant L1221R 3662T>G COCA-CN Y 14953050 14953050 single base substitution C T exon_variant COCA-CN Y 14953050 14953050 single base substitution C T missense_variant A2068V 6203C>T EOPC-DE Y 14969213 14969213 single base substitution A G exon_variant EOPC-DE Y 14969213 14969213 single base substitution A G intron_variant ESCA-CN Y 14821394 14821394 single base substitution C T exon_variant ESCA-CN Y 14821394 14821394 single base substitution C T missense_variant T5I 14C>T ESCA-CN Y 14930430 14930430 single base substitution G C exon_variant ESCA-CN Y 14930430 14930430 single base substitution G C missense_variant E1636Q 4906G>C KIRC-US Y 14850172 14850172 single base substitution A T exon_variant KIRC-US Y 14850172 14850172 single base substitution A T stop_gained K416* 1246A>T KIRC-US Y 14952324 14952324 single base substitution A G exon_variant KIRC-US Y 14952324 14952324 single base substitution A G missense_variant M1958V 5872A>G LAML-KR Y 14834316 14834316 single base substitution C T downstream_gene_variant LAML-KR Y 14834316 14834316 single base substitution C T intron_variant LAML-KR Y 14885440 14885440 single base substitution T G intron_variant LICA-FR Y 14817483 14817483 single base substitution G A intron_variant LICA-FR Y 14817483 14817483 single base substitution G A upstream_gene_variant LICA-FR Y 14853488 14853488 single base substitution C T intron_variant LICA-FR Y 14903502 14903502 single base substitution G T exon_variant LICA-FR Y 14903502 14903502 single base substitution G T missense_variant G1253V 3758G>T LICA-FR Y 14949982 14949982 deletion of <=200bp T - splice_region_variant LICA-FR Y 14953469 14953469 insertion of <=200bp - ACCTCAGTGTGGTGACTCACACCA intron_variant LICA-FR Y 14965060 14965060 deletion of <=200bp C - intron_variant LICA-FR Y 14965060 14965060 deletion of <=200bp C - upstream_gene_variant LICA-FR Y 14966289 14966292 deletion of <=200bp TGTT - intron_variant LICA-FR Y 14966289 14966292 deletion of <=200bp TGTT - upstream_gene_variant LIHC-US Y 14951877 14951877 single base substitution G T exon_variant LIHC-US Y 14951877 14951877 single base substitution G T stop_gained E1809* 5425G>T LIHC-US Y 14968376 14968376 single base substitution G A exon_variant LIHC-US Y 14968376 14968376 single base substitution G A missense_variant M2392I 7176G>A LIHC-US Y 14968376 14968376 single base substitution G A missense_variant M73I 219G>A LIHC-US Y 14968376 14968376 single base substitution G A upstream_gene_variant LIHC-US Y 14968377 14968377 single base substitution G T exon_variant LIHC-US Y 14968377 14968377 single base substitution G T missense_variant V2393L 7177G>T LIHC-US Y 14968377 14968377 single base substitution G T missense_variant V74L 220G>T LIHC-US Y 14968377 14968377 single base substitution G T upstream_gene_variant LINC-JP Y 14817186 14817186 single base substitution T G intron_variant LINC-JP Y 14817186 14817186 single base substitution T G upstream_gene_variant LINC-JP Y 14840265 14840265 single base substitution G T intron_variant LINC-JP Y 14859944 14859944 single base substitution C T intron_variant LINC-JP Y 14879570 14879570 single base substitution T G intron_variant LINC-JP Y 14885131 14885131 single base substitution A T intron_variant LINC-JP Y 14887439 14887439 single base substitution G T exon_variant LINC-JP Y 14887439 14887439 single base substitution G T missense_variant R789I 2366G>T LINC-JP Y 14898429 14898429 single base substitution A G intron_variant LINC-JP Y 14898517 14898517 single base substitution A G exon_variant LINC-JP Y 14898517 14898517 single base substitution A G synonymous_variant Q1115Q 3345A>G LINC-JP Y 14905254 14905254 single base substitution A T intron_variant LINC-JP Y 14909398 14909398 single base substitution G C intron_variant LINC-JP Y 14909399 14909399 single base substitution C T intron_variant LINC-JP Y 14924827 14924827 single base substitution A T exon_variant LINC-JP Y 14924827 14924827 single base substitution A T synonymous_variant G1483G 4449A>T LINC-JP Y 14952239 14952239 single base substitution A T exon_variant LINC-JP Y 14952239 14952239 single base substitution A T synonymous_variant G1929G 5787A>T LINC-JP Y 14954380 14954380 single base substitution C A exon_variant LINC-JP Y 14954380 14954380 single base substitution C A missense_variant P2143T 6427C>A LINC-JP Y 14954380 14954380 single base substitution C A upstream_gene_variant LINC-JP Y 14954420 14954420 single base substitution G A intron_variant LINC-JP Y 14954420 14954420 single base substitution G A upstream_gene_variant LINC-JP Y 14970732 14970732 single base substitution A G intron_variant LIRI-JP Y 14808936 14808936 single base substitution T C upstream_gene_variant LIRI-JP Y 14815518 14815518 single base substitution A T intron_variant LIRI-JP Y 14817569 14817569 single base substitution T C intron_variant LIRI-JP Y 14817569 14817569 single base substitution T C upstream_gene_variant LIRI-JP Y 14818104 14818104 single base substitution A G intron_variant LIRI-JP Y 14818104 14818104 single base substitution A G upstream_gene_variant LIRI-JP Y 14820741 14820741 single base substitution T A intron_variant LIRI-JP Y 14820741 14820741 single base substitution T A upstream_gene_variant LIRI-JP Y 14829923 14829923 single base substitution T C intron_variant LIRI-JP Y 14830905 14830905 single base substitution C A intron_variant LIRI-JP Y 14831976 14831976 single base substitution C T intron_variant LIRI-JP Y 14851054 14851054 single base substitution A G intron_variant LIRI-JP Y 14857915 14857915 single base substitution T A intron_variant LIRI-JP Y 14860572 14860572 single base substitution G C intron_variant LIRI-JP Y 14866170 14866170 single base substitution C T intron_variant LIRI-JP Y 14874202 14874202 single base substitution A G intron_variant LIRI-JP Y 14878324 14878324 single base substitution G A intron_variant LIRI-JP Y 14887038 14887038 single base substitution T A intron_variant LIRI-JP Y 14889191 14889191 single base substitution C G intron_variant LIRI-JP Y 14890310 14890310 single base substitution A G intron_variant LIRI-JP Y 14907729 14907729 single base substitution G A intron_variant LIRI-JP Y 14914938 14914938 single base substitution C A intron_variant LIRI-JP Y 14918185 14918185 single base substitution A G intron_variant LIRI-JP Y 14918979 14918979 single base substitution G A intron_variant LIRI-JP Y 14930810 14930810 single base substitution G T intron_variant LIRI-JP Y 14936413 14936413 single base substitution A T intron_variant LIRI-JP Y 14944234 14944234 single base substitution G T intron_variant LIRI-JP Y 14950333 14950333 single base substitution G A intron_variant LIRI-JP Y 14951382 14951382 single base substitution C T intron_variant LIRI-JP Y 14955996 14955996 single base substitution C T intron_variant LIRI-JP Y 14955996 14955996 single base substitution C T upstream_gene_variant LIRI-JP Y 14959239 14959239 single base substitution T A exon_variant LIRI-JP Y 14959239 14959239 single base substitution T A intron_variant LIRI-JP Y 14959239 14959239 single base substitution T A missense_variant W2351R 7051T>A LIRI-JP Y 14960195 14960195 single base substitution A G intron_variant LIRI-JP Y 14967256 14967256 single base substitution C A intron_variant LIRI-JP Y 14967256 14967256 single base substitution C A upstream_gene_variant LIRI-JP Y 14967792 14967792 single base substitution G A intron_variant LIRI-JP Y 14967792 14967792 single base substitution G A upstream_gene_variant LIRI-JP Y 14972765 14972765 single base substitution C A downstream_gene_variant LIRI-JP Y 14977164 14977164 single base substitution A G downstream_gene_variant LUSC-KR Y 14808810 14808810 single base substitution C T upstream_gene_variant LUSC-KR Y 14811644 14811644 single base substitution T C upstream_gene_variant LUSC-KR Y 14829475 14829475 single base substitution G T intron_variant LUSC-KR Y 14833624 14833624 single base substitution A G downstream_gene_variant LUSC-KR Y 14833624 14833624 single base substitution A G intron_variant LUSC-KR Y 14836647 14836647 single base substitution G T downstream_gene_variant LUSC-KR Y 14836647 14836647 single base substitution G T intron_variant LUSC-KR Y 14839915 14839915 single base substitution G C intron_variant LUSC-KR Y 14842027 14842027 single base substitution G A intron_variant LUSC-KR Y 14843300 14843300 single base substitution G C intron_variant LUSC-KR Y 14844239 14844239 single base substitution A G intron_variant LUSC-KR Y 14846120 14846120 single base substitution C G intron_variant LUSC-KR Y 14849066 14849066 single base substitution G A intron_variant LUSC-KR Y 14872115 14872115 single base substitution G T intron_variant LUSC-KR Y 14876145 14876145 single base substitution A T intron_variant LUSC-KR Y 14878202 14878202 single base substitution A T intron_variant LUSC-KR Y 14893146 14893146 single base substitution A C intron_variant LUSC-KR Y 14903005 14903005 single base substitution C T intron_variant LUSC-KR Y 14904663 14904663 single base substitution C A intron_variant LUSC-KR Y 14912267 14912267 single base substitution G C intron_variant LUSC-KR Y 14933561 14933561 single base substitution A T intron_variant LUSC-KR Y 14940073 14940073 single base substitution C A intron_variant LUSC-KR Y 14943485 14943485 single base substitution G C intron_variant LUSC-KR Y 14955709 14955709 single base substitution G C intron_variant LUSC-KR Y 14955709 14955709 single base substitution G C upstream_gene_variant LUSC-US Y 14888737 14888737 single base substitution A G exon_variant LUSC-US Y 14888737 14888737 single base substitution A G missense_variant Y861C 2582A>G LUSC-US Y 14922619 14922619 single base substitution G C exon_variant LUSC-US Y 14922619 14922619 single base substitution G C missense_variant E1369Q 4105G>C LUSC-US Y 14959215 14959215 single base substitution C A exon_variant LUSC-US Y 14959215 14959215 single base substitution C A intron_variant LUSC-US Y 14959215 14959215 single base substitution C A missense_variant Q2343K 7027C>A MALY-DE Y 14814127 14814127 single base substitution C A intron_variant MALY-DE Y 14819075 14819075 single base substitution G A intron_variant MALY-DE Y 14819075 14819075 single base substitution G A upstream_gene_variant MALY-DE Y 14858223 14858223 single base substitution T C intron_variant MALY-DE Y 14879537 14879538 deletion of <=200bp TG - intron_variant MALY-DE Y 14970594 14970594 single base substitution G A intron_variant MELA-AU Y 14809224 14809224 single base substitution G A upstream_gene_variant MELA-AU Y 14810687 14810687 single base substitution A C upstream_gene_variant MELA-AU Y 14810833 14810833 single base substitution A G upstream_gene_variant MELA-AU Y 14811394 14811394 deletion of <=200bp T - upstream_gene_variant MELA-AU Y 14816218 14816218 single base substitution T A intron_variant MELA-AU Y 14819553 14819553 single base substitution T C intron_variant MELA-AU Y 14819553 14819553 single base substitution T C upstream_gene_variant MELA-AU Y 14821489 14821489 single base substitution C T intron_variant MELA-AU Y 14823907 14823907 single base substitution A G intron_variant MELA-AU Y 14826719 14826719 single base substitution C T intron_variant MELA-AU Y 14827208 14827208 single base substitution G A intron_variant MELA-AU Y 14828651 14828651 single base substitution C T intron_variant MELA-AU Y 14830036 14830036 single base substitution C T intron_variant MELA-AU Y 14831295 14831295 single base substitution C T intron_variant MELA-AU Y 14833572 14833572 single base substitution C T downstream_gene_variant MELA-AU Y 14833572 14833572 single base substitution C T intron_variant MELA-AU Y 14834886 14834886 single base substitution G A downstream_gene_variant MELA-AU Y 14834886 14834886 single base substitution G A intron_variant MELA-AU Y 14834927 14834927 single base substitution G A downstream_gene_variant MELA-AU Y 14834927 14834927 single base substitution G A intron_variant MELA-AU Y 14844618 14844618 single base substitution C T intron_variant MELA-AU Y 14844936 14844936 single base substitution C T intron_variant MELA-AU Y 14845105 14845106 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU Y 14845864 14845864 single base substitution T C intron_variant MELA-AU Y 14845932 14845932 single base substitution T G intron_variant MELA-AU Y 14846233 14846233 single base substitution C T intron_variant MELA-AU Y 14846543 14846543 single base substitution C T intron_variant MELA-AU Y 14847809 14847809 single base substitution T C intron_variant MELA-AU Y 14850388 14850388 single base substitution G A intron_variant MELA-AU Y 14850701 14850701 single base substitution C T intron_variant MELA-AU Y 14857404 14857404 single base substitution G A intron_variant MELA-AU Y 14860870 14860871 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU Y 14861169 14861169 single base substitution G A intron_variant MELA-AU Y 14862162 14862162 single base substitution T A intron_variant MELA-AU Y 14866553 14866553 single base substitution C T intron_variant MELA-AU Y 14867204 14867204 single base substitution C T intron_variant MELA-AU Y 14867610 14867610 single base substitution C T intron_variant MELA-AU Y 14868221 14868221 single base substitution C T intron_variant MELA-AU Y 14868282 14868282 single base substitution C T intron_variant MELA-AU Y 14872361 14872361 single base substitution A C intron_variant MELA-AU Y 14873089 14873089 single base substitution C T intron_variant MELA-AU Y 14878376 14878376 single base substitution A G intron_variant MELA-AU Y 14885717 14885717 single base substitution C T exon_variant MELA-AU Y 14885717 14885717 single base substitution C T missense_variant P730L 2189C>T MELA-AU Y 14885882 14885882 single base substitution C T intron_variant MELA-AU Y 14889989 14889989 single base substitution G A exon_variant MELA-AU Y 14889989 14889989 single base substitution G A synonymous_variant R892R 2676G>A MELA-AU Y 14890736 14890736 single base substitution C T intron_variant MELA-AU Y 14890806 14890806 single base substitution T G intron_variant MELA-AU Y 14891492 14891492 single base substitution C T exon_variant MELA-AU Y 14891492 14891492 single base substitution C T synonymous_variant F1021F 3063C>T MELA-AU Y 14891594 14891594 single base substitution C T intron_variant MELA-AU Y 14892346 14892346 single base substitution C T intron_variant MELA-AU Y 14893038 14893038 single base substitution C T intron_variant MELA-AU Y 14895720 14895720 single base substitution T C intron_variant MELA-AU Y 14895773 14895773 single base substitution C T intron_variant MELA-AU Y 14897326 14897326 single base substitution C T intron_variant MELA-AU Y 14897905 14897905 single base substitution G A intron_variant MELA-AU Y 14898417 14898417 single base substitution C T intron_variant MELA-AU Y 14901007 14901007 single base substitution C T intron_variant MELA-AU Y 14901942 14901942 single base substitution A C intron_variant MELA-AU Y 14901946 14901946 single base substitution T G intron_variant MELA-AU Y 14901957 14901957 single base substitution C T intron_variant MELA-AU Y 14904039 14904039 single base substitution C T intron_variant MELA-AU Y 14905035 14905035 single base substitution C T exon_variant MELA-AU Y 14905035 14905035 single base substitution C T missense_variant T1295I 3884C>T MELA-AU Y 14907192 14907192 single base substitution C T intron_variant MELA-AU Y 14909823 14909823 single base substitution C T intron_variant MELA-AU Y 14912141 14912141 single base substitution C T intron_variant MELA-AU Y 14915658 14915658 single base substitution C T intron_variant MELA-AU Y 14916774 14916774 single base substitution C T intron_variant MELA-AU Y 14920481 14920481 single base substitution C T intron_variant MELA-AU Y 14922872 14922872 single base substitution C T intron_variant MELA-AU Y 14923710 14923710 single base substitution C T exon_variant MELA-AU Y 14923710 14923710 single base substitution C T synonymous_variant L1460L 4380C>T MELA-AU Y 14923897 14923897 single base substitution C T intron_variant MELA-AU Y 14924796 14924796 single base substitution C T exon_variant MELA-AU Y 14924796 14924796 single base substitution C T missense_variant S1473F 4418C>T MELA-AU Y 14927624 14927624 single base substitution G A intron_variant MELA-AU Y 14927706 14927706 single base substitution T C intron_variant MELA-AU Y 14927747 14927747 single base substitution G A intron_variant MELA-AU Y 14931051 14931051 single base substitution T C intron_variant MELA-AU Y 14931740 14931740 single base substitution T C intron_variant MELA-AU Y 14934120 14934120 single base substitution T A intron_variant MELA-AU Y 14936144 14936144 single base substitution A T intron_variant MELA-AU Y 14937039 14937039 single base substitution T G intron_variant MELA-AU Y 14937965 14937965 single base substitution G A intron_variant MELA-AU Y 14938866 14938866 single base substitution C T intron_variant MELA-AU Y 14940334 14940334 single base substitution T A intron_variant MELA-AU Y 14944321 14944321 single base substitution C T intron_variant MELA-AU Y 14945991 14945991 single base substitution C T intron_variant MELA-AU Y 14946580 14946580 single base substitution T C intron_variant MELA-AU Y 14946669 14946669 single base substitution T G intron_variant MELA-AU Y 14947268 14947268 single base substitution C T intron_variant MELA-AU Y 14947282 14947282 single base substitution C T intron_variant MELA-AU Y 14955518 14955518 single base substitution T C intron_variant MELA-AU Y 14955518 14955518 single base substitution T C upstream_gene_variant MELA-AU Y 14957749 14957749 single base substitution C T intron_variant MELA-AU Y 14957749 14957749 single base substitution C T upstream_gene_variant MELA-AU Y 14957850 14957850 single base substitution C T intron_variant MELA-AU Y 14957850 14957850 single base substitution C T upstream_gene_variant MELA-AU Y 14959626 14959626 single base substitution C T intron_variant MELA-AU Y 14960024 14960024 single base substitution A G intron_variant MELA-AU Y 14960865 14960865 single base substitution G A intron_variant MELA-AU Y 14963833 14963833 single base substitution C T intron_variant MELA-AU Y 14963833 14963833 single base substitution C T upstream_gene_variant MELA-AU Y 14963883 14963883 single base substitution C T intron_variant MELA-AU Y 14963883 14963883 single base substitution C T upstream_gene_variant MELA-AU Y 14964727 14964727 single base substitution G A intron_variant MELA-AU Y 14964727 14964727 single base substitution G A upstream_gene_variant MELA-AU Y 14964734 14964734 single base substitution C T intron_variant MELA-AU Y 14964734 14964734 single base substitution C T upstream_gene_variant MELA-AU Y 14966450 14966450 single base substitution C T intron_variant MELA-AU Y 14966450 14966450 single base substitution C T upstream_gene_variant MELA-AU Y 14967336 14967336 single base substitution C T intron_variant MELA-AU Y 14967336 14967336 single base substitution C T upstream_gene_variant MELA-AU Y 14969668 14969668 single base substitution T C intron_variant MELA-AU Y 14970051 14970051 single base substitution T C intron_variant MELA-AU Y 14971014 14971014 single base substitution C T intron_variant MELA-AU Y 14971421 14971421 single base substitution T G 3_prime_UTR_variant MELA-AU Y 14971421 14971421 single base substitution T G exon_variant MELA-AU Y 14971470 14971470 single base substitution C T 3_prime_UTR_variant MELA-AU Y 14971470 14971470 single base substitution C T exon_variant ORCA-IN Y 14848476 14848476 single base substitution G T exon_variant ORCA-IN Y 14848476 14848476 single base substitution G T missense_variant R386L 1157G>T ORCA-IN Y 14922753 14922753 single base substitution G T missense_variant R1413S 4239G>T ORCA-IN Y 14922753 14922753 single base substitution G T splice_region_variant PACA-AU Y 14822673 14822673 single base substitution T A intron_variant PACA-AU Y 14829399 14829399 single base substitution T G intron_variant PACA-AU Y 14868239 14868239 single base substitution T C intron_variant PACA-AU Y 14870687 14870687 single base substitution T G intron_variant PACA-AU Y 14906580 14906580 single base substitution T G intron_variant PACA-AU Y 14924217 14924217 deletion of <=200bp T - intron_variant PACA-AU Y 14968828 14968828 deletion of <=200bp T - exon_variant PACA-AU Y 14968828 14968828 deletion of <=200bp T - intron_variant PACA-CA Y 14834401 14834401 single base substitution A C downstream_gene_variant PACA-CA Y 14834401 14834401 single base substitution A C intron_variant PACA-CA Y 14850465 14850465 insertion of <=200bp - T intron_variant PACA-CA Y 14850904 14850904 single base substitution G A intron_variant PACA-CA Y 14852275 14852275 single base substitution A G intron_variant PACA-CA Y 14867963 14867963 single base substitution C T intron_variant PACA-CA Y 14869977 14869977 single base substitution T C intron_variant PACA-CA Y 14888952 14888952 single base substitution A T intron_variant PACA-CA Y 14896469 14896469 single base substitution T A intron_variant PACA-CA Y 14917583 14917583 single base substitution G T intron_variant PACA-CA Y 14922683 14922683 single base substitution A G exon_variant PACA-CA Y 14922683 14922683 single base substitution A G missense_variant N1390S 4169A>G PACA-CA Y 14953040 14953040 single base substitution C T exon_variant PACA-CA Y 14953040 14953040 single base substitution C T missense_variant R2065C 6193C>T PACA-CA Y 14957398 14957398 single base substitution T A intron_variant PACA-CA Y 14957398 14957398 single base substitution T A upstream_gene_variant PACA-CA Y 14968897 14968897 single base substitution T C exon_variant PACA-CA Y 14968897 14968897 single base substitution T C intron_variant PAEN-AU Y 14846349 14846349 single base substitution A G intron_variant PAEN-AU Y 14905266 14905266 single base substitution G A intron_variant PAEN-IT Y 14824154 14824154 single base substitution A T intron_variant PBCA-DE Y 14879537 14879538 deletion of <=200bp TG - intron_variant PBCA-DE Y 14884870 14884872 deletion of <=200bp TAG - intron_variant PBCA-DE Y 14884881 14884884 deletion of <=200bp GTGG - intron_variant PBCA-DE Y 14886930 14886930 single base substitution C A intron_variant PBCA-DE Y 14921405 14921406 deletion of <=200bp GA - intron_variant PBCA-DE Y 14968958 14968958 single base substitution T A exon_variant PBCA-DE Y 14968958 14968958 single base substitution T A intron_variant PBCA-DE Y 14972196 14972196 single base substitution G A 3_prime_UTR_variant PBCA-DE Y 14972196 14972196 single base substitution G A downstream_gene_variant PBCA-DE Y 14972196 14972196 single base substitution G A exon_variant PRAD-CA Y 14808329 14808329 single base substitution T G upstream_gene_variant PRAD-CA Y 14827977 14827977 single base substitution T C intron_variant PRAD-CA Y 14845952 14845952 single base substitution C A intron_variant PRAD-CA Y 14865178 14865178 single base substitution G A intron_variant PRAD-CA Y 14901815 14901815 single base substitution C A intron_variant PRAD-CA Y 14901958 14901958 single base substitution G A intron_variant PRAD-CA Y 14915151 14915151 single base substitution G A intron_variant PRAD-CA Y 14926089 14926089 single base substitution T A intron_variant PRAD-CA Y 14936470 14936470 single base substitution A T intron_variant PRAD-CA Y 14965744 14965744 single base substitution G T intron_variant PRAD-CA Y 14965744 14965744 single base substitution G T upstream_gene_variant PRAD-UK Y 14811436 14811436 single base substitution T G upstream_gene_variant PRAD-UK Y 14812235 14812235 single base substitution G T upstream_gene_variant PRAD-UK Y 14850022 14850023 deletion of <=200bp AT - intron_variant PRAD-UK Y 14862073 14862073 insertion of <=200bp - T intron_variant PRAD-UK Y 14868246 14868246 single base substitution G T intron_variant PRAD-UK Y 14881610 14881610 single base substitution G C intron_variant PRAD-UK Y 14884181 14884181 single base substitution G T intron_variant PRAD-UK Y 14920350 14920350 single base substitution T A intron_variant PRAD-UK Y 14964487 14964487 single base substitution C T intron_variant PRAD-UK Y 14964487 14964487 single base substitution C T upstream_gene_variant READ-US Y 14848120 14848120 single base substitution G T exon_variant READ-US Y 14848120 14848120 single base substitution G T missense_variant R321I 962G>T READ-US Y 14888670 14888670 single base substitution A C exon_variant READ-US Y 14888670 14888670 single base substitution A C missense_variant N839H 2515A>C READ-US Y 14903548 14903548 single base substitution T G exon_variant READ-US Y 14903548 14903548 single base substitution T G missense_variant I1268M 3804T>G READ-US Y 14923602 14923602 single base substitution C T exon_variant READ-US Y 14923602 14923602 single base substitution C T synonymous_variant V1424V 4272C>T RECA-EU Y 14905744 14905744 single base substitution A C intron_variant SKCA-BR Y 14841893 14841893 insertion of <=200bp - AT intron_variant SKCA-BR Y 14854755 14854755 single base substitution T G intron_variant SKCA-BR Y 14858204 14858204 single base substitution C T intron_variant SKCA-BR Y 14858455 14858455 single base substitution C T intron_variant SKCA-BR Y 14906074 14906074 single base substitution C T intron_variant SKCA-BR Y 14908877 14908877 single base substitution C T intron_variant SKCA-BR Y 14925311 14925311 single base substitution A T intron_variant SKCA-BR Y 14927313 14927313 single base substitution C T intron_variant SKCA-BR Y 14948314 14948314 single base substitution C T intron_variant SKCA-BR Y 14948315 14948315 single base substitution C T intron_variant SKCA-BR Y 14959920 14959921 deletion of <=200bp TA - intron_variant SKCA-BR Y 14967452 14967452 single base substitution T A intron_variant SKCA-BR Y 14967452 14967452 single base substitution T A upstream_gene_variant SKCA-BR Y 14969750 14969750 single base substitution T C intron_variant SKCA-BR Y 14974104 14974104 single base substitution C T downstream_gene_variant SKCM-US Y 14838532 14838532 single base substitution C T exon_variant SKCM-US Y 14838532 14838532 single base substitution C T missense_variant R155C 463C>T SKCM-US Y 14848359 14848359 single base substitution C T exon_variant SKCM-US Y 14848359 14848359 single base substitution C T missense_variant S347F 1040C>T SKCM-US Y 14851524 14851524 single base substitution T A exon_variant SKCM-US Y 14851524 14851524 single base substitution T A missense_variant F461L 1383T>A SKCM-US Y 14869163 14869163 single base substitution C T exon_variant SKCM-US Y 14869163 14869163 single base substitution C T synonymous_variant L488L 1464C>T SKCM-US Y 14889987 14889987 single base substitution C T exon_variant SKCM-US Y 14889987 14889987 single base substitution C T missense_variant R892W 2674C>T SKCM-US Y 14889989 14889989 single base substitution G A exon_variant SKCM-US Y 14889989 14889989 single base substitution G A synonymous_variant R892R 2676G>A SKCM-US Y 14902403 14902403 single base substitution C T exon_variant SKCM-US Y 14902403 14902403 single base substitution C T missense_variant P1209S 3625C>T SKCM-US Y 14923709 14923709 single base substitution T A exon_variant SKCM-US Y 14923709 14923709 single base substitution T A missense_variant L1460H 4379T>A SKCM-US Y 14928201 14928201 single base substitution G A exon_variant SKCM-US Y 14928201 14928201 single base substitution G A synonymous_variant R1584R 4752G>A SKCM-US Y 14952450 14952450 single base substitution A G exon_variant SKCM-US Y 14952450 14952450 single base substitution A G missense_variant M2000V 5998A>G SKCM-US Y 14954236 14954236 single base substitution T A exon_variant SKCM-US Y 14954236 14954236 single base substitution T A missense_variant F2095I 6283T>A SKCM-US Y 14954236 14954236 single base substitution T A upstream_gene_variant SKCM-US Y 14968653 14968653 single base substitution T G exon_variant SKCM-US Y 14968653 14968653 single base substitution T G missense_variant S120R 360T>G SKCM-US Y 14968653 14968653 single base substitution T G missense_variant S2439R 7317T>G SKCM-US Y 14968653 14968653 single base substitution T G upstream_gene_variant STAD-US Y 14837085 14837085 single base substitution G A downstream_gene_variant STAD-US Y 14837085 14837085 single base substitution G A exon_variant STAD-US Y 14837085 14837085 single base substitution G A missense_variant R122Q 365G>A STAD-US Y 14847611 14847611 deletion of <=200bp T - exon_variant STAD-US Y 14847611 14847611 deletion of <=200bp T - frameshift_variant R241 STAD-US Y 14847975 14847975 deletion of <=200bp A - exon_variant STAD-US Y 14847975 14847975 deletion of <=200bp A - frameshift_variant K273 STAD-US Y 14848463 14848463 single base substitution C T exon_variant STAD-US Y 14848463 14848463 single base substitution C T synonymous_variant L382L 1144C>T STAD-US Y 14898521 14898521 single base substitution C A exon_variant STAD-US Y 14898521 14898521 single base substitution C A missense_variant H1117N 3349C>A STAD-US Y 14898560 14898560 single base substitution A G exon_variant STAD-US Y 14898560 14898560 single base substitution A G missense_variant M1130V 3388A>G STAD-US Y 14951943 14951943 single base substitution G A exon_variant STAD-US Y 14951943 14951943 single base substitution G A missense_variant V1831I 5491G>A STAD-US Y 14968300 14968300 single base substitution G A exon_variant STAD-US Y 14968300 14968300 single base substitution G A missense_variant R2367K 7100G>A STAD-US Y 14968300 14968300 single base substitution G A missense_variant R48K 143G>A STAD-US Y 14968300 14968300 single base substitution G A upstream_gene_variant THCA-US Y 14924964 14924964 single base substitution A C exon_variant THCA-US Y 14924964 14924964 single base substitution A C missense_variant Y1529S 4586A>C

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand PT48 COSM5934208 c.3316C>T p.P1106S Substitution - Missense 24:12786555-12786555 + TCGA-AA-3525-01 COSM181240 c.4234A>G p.I1412V Substitution - Missense 24:12810813-12810813 + CSCC-56-T COSM4542575 c.3208G>A p.E1070K Substitution - Missense 24:12786259-12786259 + LIM1215 COSM3144196 c.5978G>A p.R1993Q Substitution - Missense 24:12840504-12840504 + T578 COSM4739965 c.2523T>G p.I841M Substitution - Missense 24:12776744-12776744 + TCGA-AA-3558-01 COSM301578 c.818A>C p.K273T Substitution - Missense 24:12736042-12736042 + TCGA-CJ-5672-01 COSM488712 c.1246A>T p.K416* Substitution - Nonsense 24:12738238-12738238 + sysucc-311T COSM4111702 c.365G>A p.R122Q Substitution - Missense 24:12725152-12725152 + LPJ023 COSM1316006 c.7439C>T p.P2480L Substitution - Missense 24:12857570-12857570 + TCGA-AZ-4315-01 COSM1469986 c.3739A>G p.I1247V Substitution - Missense 24:12791550-12791550 + HCC153 COSM3660035 c.4449A>T p.G1483G Substitution - coding silent 24:12812892-12812892 + SC_9054 COSM5563217 c.3598C>G p.Q1200E Substitution - Missense 24:12790443-12790443 + TCGA-D9-A6EC-06 COSM4406218 c.4379T>A p.L1460H Substitution - Missense 24:12811774-12811774 + B74 COSM1756697 c.3357G>A p.L1119L Substitution - coding silent 24:12786596-12786596 + 12M COSM5577848 c.6763C>T p.P2255S Substitution - Missense 24:12846941-12846941 + P130 COSM1735963 c.7434+3delA p.? Unknown 24:12856848-12856848 + 4760_PT COSM5757582 c.7249A>G p.T2417A Substitution - Missense 24:12856660-12856660 + BN49T COSM1626206 c.5787A>T p.G1929G Substitution - coding silent 24:12840313-12840313 + HCT8 COSM3144196 c.5978G>A p.R1993Q Substitution - Missense 24:12840504-12840504 + TCGA-FW-A3R5-06 COSM3914342 c.2674C>T p.R892W Substitution - Missense 24:12778053-12778053 + 587224 COSM1232134 c.6439-1G>T p.? Unknown 24:12843063-12843063 + B37 COSM1756698 c.4870C>T p.H1624Y Substitution - Missense 24:12818459-12818459 + HCT116 COSM4632520 c.2292G>A p.M764I Substitution - Missense 24:12773886-12773886 + TCGA-18-3419-01 COSM758051 c.2582A>G p.Y861C Substitution - Missense 24:12776803-12776803 + Pat_04_A COSM5878434 c.1798C>T p.R600C Substitution - Missense 24:12760515-12760515 + SK00102_M COSM1600039 c.617A>G p.D206G Substitution - Missense 24:12726753-12726753 + TCGA-GN-A269-01 COSM3584381 c.463C>T p.R155C Substitution - Missense 24:12726599-12726599 + TCGA-BJ-A3EZ-01 COSM3372915 c.4586A>C p.Y1529S Substitution - Missense 24:12813029-12813029 + T578 COSM4739966 c.6780C>T p.F2260F Substitution - coding silent 24:12846958-12846958 + sysucc-311T COSM5467928 c.6203C>T p.A2068V Substitution - Missense 24:12841124-12841124 + HCT15 COSM3144181 c.1104T>C p.Y368Y Substitution - coding silent 24:12736489-12736489 + ESCC_154 COSM5645922 c.3297G>T p.L1099F Substitution - Missense 24:12786536-12786536 + HCC25T COSM1626208 c.7434+2_7434+3insA p.? Unknown 24:12856847-12856848 + TCGA-BR-8680-01 COSM4111704 c.3349C>A p.H1117N Substitution - Missense 24:12786588-12786588 + LIM2405 COSM4643427 c.5353C>T p.R1785C Substitution - Missense 24:12839879-12839879 + HX15T COSM1626205 c.3345A>G p.Q1115Q Substitution - coding silent 24:12786584-12786584 + LIM1215 COSM4381024 c.6346G>A p.A2116T Substitution - Missense 24:12842373-12842373 + cSCCP6 COSM137297 c.109G>A p.D37N Substitution - Missense 24:12720601-12720601 + 105T COSM1725211 c.5262C>G p.D1754E Substitution - Missense 24:12837977-12837977 + pfg019T COSM1644107 c.373C>T p.L125L Substitution - coding silent 24:12725160-12725160 + BN42 COSM1626207 c.6427C>A p.P2143T Substitution - Missense 24:12842454-12842454 + 19 COSM5748350 c.3226delC p.D1078fs*15 Deletion - Frameshift 24:12786277-12786277 + CSCC-20-T COSM4505774 c.7018C>A p.L2340I Substitution - Missense 24:12847281-12847281 + TCGA-DK-A1AC-01 COSM1315736 c.2276G>C p.R759T Substitution - Missense 24:12773870-12773870 + TCGA-ER-A19J-06 COSM3584389 c.7317T>G p.S2439R Substitution - Missense 24:12856728-12856728 + 585208 COSM326844 c.2650G>T p.G884C Substitution - Missense 24:12778029-12778029 + CHC1028T COSM4790910 c.3758G>T p.G1253V Substitution - Missense 24:12791569-12791569 + 1848_T COSM3944523 c.4749C>T p.I1583I Substitution - coding silent 24:12816263-12816263 + ESCC-129T COSM3940160 c.4906G>C p.E1636Q Substitution - Missense 24:12818495-12818495 + TCGA-FV-A3R2-01 COSM4929314 c.7176G>A p.M2392I Substitution - Missense 24:12856451-12856451 + LUAD-NYU184 COSM370972 c.5596A>T p.R1866* Substitution - Nonsense 24:12840122-12840122 + HX15T COSM1626204 c.2366G>T p.R789I Substitution - Missense 24:12775505-12775505 + TCGA-AD-6964-01 COSM1469982 c.723delT p.F243fs*6 Deletion - Frameshift 24:12735677-12735677 + TCGA-EB-A44N-01 COSM3584383 c.1383T>A p.F461L Substitution - Missense 24:12739590-12739590 + 1338_T COSM3944525 c.5901G>C p.M1967I Substitution - Missense 24:12840427-12840427 + HCT116 COSM4632519 c.38A>G p.N13S Substitution - Missense 24:12709485-12709485 + TCGA-BR-8059-01 COSM4111703 c.1144C>T p.L382L Substitution - coding silent 24:12736529-12736529 + OSCC-GB_01060111 COSM4882420 c.4239G>T p.R1413S Substitution - Missense 24:12810818-12810818 + ccRCC-56 COSM1659607 c.7585A>C p.N2529H Substitution - Missense 24:12859333-12859333 + DLD1 COSM3144196 c.5978G>A p.R1993Q Substitution - Missense 24:12840504-12840504 + TCGA-EI-6917-01 COSM3426796 c.962G>T p.R321I Substitution - Missense 24:12736186-12736186 + 11M COSM5577191 c.6384C>T p.S2128S Substitution - coding silent 24:12842411-12842411 + TCGA-FV-A3R2-01 COSM4929289 c.7177G>T p.V2393L Substitution - Missense 24:12856452-12856452 + BN42T COSM1626207 c.6427C>A p.P2143T Substitution - Missense 24:12842454-12842454 + TCGA-AZ-4315-01 COSM1469989 c.6193C>T p.R2065C Substitution - Missense 24:12841114-12841114 + CSCC-30-T COSM4570510 c.2805T>C p.L935L Substitution - coding silent 24:12778184-12778184 + TCGA-AA-3939-01 COSM301581 c.4590C>G p.Y1530* Substitution - Nonsense 24:12813033-12813033 + TCGA-85-6561-01 COSM758049 c.7027C>A p.Q2343K Substitution - Missense 24:12847290-12847290 + TARGET-30-PAMVLG COSM1288873 c.2040A>C p.Q680H Substitution - Missense 24:12773634-12773634 + TCGA-EE-A3AC-06 COSM3584382 c.1040C>T p.S347F Substitution - Missense 24:12736425-12736425 + UM-SCC-2 COSM4599394 c.631C>T p.R211C Substitution - Missense 24:12726767-12726767 + MO_1012 COSM5551542 c.368A>G p.D123G Substitution - Missense 24:12725155-12725155 + TCGA-EE-A2M6-06 COSM3584385 c.2676G>A p.R892R Substitution - coding silent 24:12778055-12778055 + TCGA-AG-A002-01 COSM169248 c.2383A>G p.K795E Substitution - Missense 24:12775522-12775522 + PT46 COSM5930175 c.364C>T p.R122* Substitution - Nonsense 24:12725151-12725151 + ESCC_BICR_071T COSM5433537 c.14C>T p.T5I Substitution - Missense 24:12709461-12709461 + TCGA-AZ-4315-01 COSM1469984 c.1978A>C p.N660H Substitution - Missense 24:12771145-12771145 + B68 COSM1756699 c.5915C>G p.S1972* Substitution - Nonsense 24:12840441-12840441 + sysucc-880T COSM5463878 c.3662T>G p.L1221R Substitution - Missense 24:12790507-12790507 + YUAKER COSM1715913 c.2543C>T p.A848V Substitution - Missense 24:12776764-12776764 + DLD1 COSM4626612 c.4812T>C p.D1604D Substitution - coding silent 24:12816326-12816326 + 2171662 COSM4423058 c.806A>G p.Q269R Substitution - Missense 24:12736030-12736030 + TCGA-BR-8372-01 COSM4111705 c.3388A>G p.M1130V Substitution - Missense 24:12786627-12786627 + TCGA-DK-A1AC-01 COSM1315735 c.2046G>T p.W682C Substitution - Missense 24:12773640-12773640 + TCGA-AA-A00N-01 COSM287705 c.6124A>G p.T2042A Substitution - Missense 24:12841045-12841045 + RK140_C01 COSM3702265 c.7051T>A p.W2351R Substitution - Missense 24:12847314-12847314 + TCGA-AA-3712-01 COSM1469990 c.6798A>G p.S2266S Substitution - coding silent 24:12846976-12846976 + CSCC-60-T COSM4490354 c.3626C>T p.P1209L Substitution - Missense 24:12790471-12790471 + Pat_44_B COSM5878435 c.4195G>A p.E1399K Substitution - Missense 24:12810774-12810774 + TCGA-AD-6895-01 COSM1469987 c.4171G>A p.G1391S Substitution - Missense 24:12810750-12810750 + HCC153T COSM3660035 c.4449A>T p.G1483G Substitution - coding silent 24:12812892-12812892 + TCGA-BR-7703-01 COSM4111706 c.5491G>A p.V1831I Substitution - Missense 24:12840017-12840017 + CSCC-60-T COSM4572070 c.6362T>A p.I2121K Substitution - Missense 24:12842389-12842389 + TCGA-22-1011-01 COSM758050 c.4105G>C p.E1369Q Substitution - Missense 24:12810684-12810684 + SC_9068 COSM5552455 c.2002G>T p.D668Y Substitution - Missense 24:12773596-12773596 + TCGA-CC-A5UE-01 COSM4933978 c.5425G>T p.E1809* Substitution - Nonsense 24:12839951-12839951 + TCGA-AG-A002-01 COSM265518 c.5494G>T p.A1832S Substitution - Missense 24:12840020-12840020 + ESO-0129 COSM1270123 c.662G>T p.W221L Substitution - Missense 24:12735616-12735616 + 2521252 COSM5889443 c.2647C>T p.R883C Substitution - Missense 24:12778026-12778026 + TCGA-F5-6814-01 COSM3426798 c.3804T>G p.I1268M Substitution - Missense 24:12791615-12791615 + 1848_T COSM3944524 c.4773A>G p.E1591E Substitution - coding silent 24:12816287-12816287 + TCGA-DK-A3IT-01 COSM1315738 c.3206G>T p.G1069V Substitution - Missense 24:12786257-12786257 + 2113174 COSM4167361 c.2753G>T p.R918L Substitution - Missense 24:12778132-12778132 + PCSI_0096_Pa_P_526 COSM4808243 c.4169A>G p.N1390S Substitution - Missense 24:12810748-12810748 + B68-Tumor COSM1756699 c.5915C>G p.S1972* Substitution - Nonsense 24:12840441-12840441 + 40M COSM5586980 c.1233A>T p.V411V Substitution - coding silent 24:12738225-12738225 + OSCC-GB_00550111 COSM4884866 c.1157G>T p.R386L Substitution - Missense 24:12736542-12736542 + SK00102_P COSM1600039 c.617A>G p.D206G Substitution - Missense 24:12726753-12726753 + CSCC-11-T COSM4537633 c.2443G>A p.D815N Substitution - Missense 24:12776664-12776664 + TCGA-EI-6917-01 COSM3426799 c.4272C>T p.V1424V Substitution - coding silent 24:12811667-12811667 + DLD1 COSM4626611 c.919G>A p.A307T Substitution - Missense 24:12736143-12736143 + CHC1028T COSM4790910 c.3758G>T p.G1253V Substitution - Missense 24:12791569-12791569 + LUAD-F00162 COSM366770 c.3974G>C p.C1325S Substitution - Missense 24:12793192-12793192 + BCM723T COSM3144192 c.5337+4delT p.? Unknown 24:12838056-12838056 + STC252 COSM5064929 c.195G>T p.E65D Substitution - Missense 24:12720687-12720687 + BN49 COSM1626206 c.5787A>T p.G1929G Substitution - coding silent 24:12840313-12840313 + DLD1 COSM3144181 c.1104T>C p.Y368Y Substitution - coding silent 24:12736489-12736489 + YUPAT COSM1715912 c.1478G>A p.R493H Substitution - Missense 24:12757247-12757247 + TCGA-D9-A6EC-06 COSM4405438 c.4752G>A p.R1584R Substitution - coding silent 24:12816266-12816266 + TCGA-EI-6917-01 COSM3426797 c.2515A>C p.N839H Substitution - Missense 24:12776736-12776736 + TCGA-EE-A29D-06 COSM3584386 c.3625C>T p.P1209S Substitution - Missense 24:12790470-12790470 + B37-Tumor COSM1756698 c.4870C>T p.H1624Y Substitution - Missense 24:12818459-12818459 + DLD1 COSM4626610 c.351C>A p.C117* Substitution - Nonsense 24:12725138-12725138 + LC_S15 COSM1190661 c.5473G>T p.D1825Y Substitution - Missense 24:12839999-12839999 + B74-Tumor COSM1756697 c.3357G>A p.L1119L Substitution - coding silent 24:12786596-12786596 + HCT15 COSM3144196 c.5978G>A p.R1993Q Substitution - Missense 24:12840504-12840504 + CSCC-56-T COSM4571944 c.5928T>G p.I1976M Substitution - Missense 24:12840454-12840454 + TCGA-CD-A4MG-01 COSM4111702 c.365G>A p.R122Q Substitution - Missense 24:12725152-12725152 + 234 COSM3730741 c.7434+3_7434+4delAA p.? Unknown 24:12856848-12856849 + 19M COSM5579961 c.3486G>A p.A1162A Substitution - coding silent 24:12786725-12786725 + TCGA-CA-6717-01 COSM1469985 c.3505C>T p.R1169* Substitution - Nonsense 24:12786744-12786744 + TCGA-AZ-6601-01 COSM1469988 c.4780G>T p.G1594C Substitution - Missense 24:12816294-12816294 + TCGA-BP-4799-01 COSM3364879 c.5872A>G p.M1958V Substitution - Missense 24:12840398-12840398 + TCGA-HF-7132-01 COSM4111707 c.7100G>A p.R2367K Substitution - Missense 24:12856375-12856375 + CSCC-20-T COSM4528123 c.1512G>A p.M504I Substitution - Missense 24:12757281-12757281 + HN_00761 COSM130134 c.676A>T p.I226F Substitution - Missense 24:12735630-12735630 + TCGA-DK-A1AC-01 COSM1315737 c.2296G>T p.D766Y Substitution - Missense 24:12773890-12773890 + TCGA-DK-A1A3-01 COSM422466 c.142C>A p.P48T Substitution - Missense 24:12720634-12720634 + TCGA-FR-A3YN-06 COSM3584387 c.5998A>G p.M2000V Substitution - Missense 24:12840524-12840524 + PT44 COSM5927128 c.7261G>A p.E2421K Substitution - Missense 24:12856672-12856672 + TCGA-EB-A41A-01 COSM3584384 c.1464C>T p.L488L Substitution - coding silent 24:12757233-12757233 + ccRCC-84 COSM1665848 c.357delT p.R122fs*4 Deletion - Frameshift 24:12725144-12725144 + 391 COSM3724122 c.5327G>C p.C1776S Substitution - Missense 24:12838042-12838042 + TCGA-EE-A2GC-06 COSM3584388 c.6283T>A p.F2095I Substitution - Missense 24:12842310-12842310 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.598509;Hs.598512;Hs.598517;Hs.598519;Hs.598522;Hs.598523;Hs.598525;Hs.598527;Hs.598530;Hs.598531;Hs.598535;Hs.598537;Hs.598538;Hs.598540 Yq11.2 400005

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.K273T c.818A>C Y 14847976 COREAD A C Missense p.Q680H c.2040A>C Y 14885568 NB A C Missense p.Y1529S c.4586A>C Y 14924964 THCA A G IntronicSNV . c.1901-1268A>G Y 14881734 CLL A G Missense p.M1958V c.5872A>G Y 14952324 RCCC A G Missense p.Y861C c.2582A>G Y 14888737 LUSC A T Missense p.I226F c.676A>T Y 14847564 HNSC A T Nonsense p.K416* c.1246A>T Y 14850172 RCCC C A Missense p.P48T c.142C>A Y 14832567 BLCA C A Missense p.Q2343K c.7027C>A Y 14959215 LUSC C G Missense p.R695G c.2083C>G Y 14885611 HNSC C G Nonsense p.Y1530* c.4590C>G Y 14924968 COREAD C T Missense p.P1207S c.3619C>T Y 14902397 CM C T Missense p.R155C c.463C>T Y 14838532 CM C T Missense p.S347F c.1040C>T Y 14848359 CM C T Synonymous p.L125L c.373C>T Y 14837093 STAD G A Synonymous p.R892R c.2676G>A Y 14889989 CM G C Missense p.E1369Q c.4105G>C Y 14922619 LUSC G - Frameshift p.W2351Cfs*39 c.7053delG Y 14959240 LUAD G T Missense p.G1069V c.3206G>T Y 14898191 BLCA G T Missense p.G737V c.2210G>T Y 14885738 MM G T Missense p.G884C c.2650G>T Y 14889963 SCLC G T Missense p.W221L c.662G>T Y 14847550 ESCA T A Missense p.F2095I c.6283T>A Y 14954236 CM TCACACACACACACACACACACA - IntronicDeletion . c.657+920_657+942delTCACACACACACACACACACACA Y 14839646 CLL T C Missense p.M2246T c.6737T>C Y 14958426 HNSC T G Missense p.S2439R c.7317T>G Y 14968653 CM