Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 23 79971694 79971694 + Missense_Mutation SNP C C A TCGA-OR-A5KB-01A-11D-A30A-10 TCGA-OR-A5KB-11A-11D-A30A-10 g.chrX:79971694C>A c.2287G>T c.(2287-2289)Gtt>Ttt p.V763F BLCA 23 79932201 79932201 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 g.chrX:79932201C>G c.5316G>C c.(5314-5316)gaG>gaC p.E1772D BLCA 23 79932317 79932317 + Missense_Mutation SNP C C G TCGA-E7-A541-01A-11D-A26M-08 TCGA-E7-A541-10A-01D-A26K-08 g.chrX:79932317C>G c.5200G>C c.(5200-5202)Gat>Cat p.D1734H BLCA 23 79932821 79932821 + Missense_Mutation SNP C C G TCGA-KQ-A41P-01A-12D-A339-08 TCGA-KQ-A41P-10F-01D-A339-08 g.chrX:79932821C>G c.4696G>C c.(4696-4698)Gag>Cag p.E1566Q BLCA 23 79936980 79936980 + Missense_Mutation SNP C C G TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 g.chrX:79936980C>G c.4514G>C c.(4513-4515)gGg>gCg p.G1505A BLCA 23 79938035 79938035 + Silent SNP C C T TCGA-UY-A9PB-01A-11D-A38G-08 TCGA-UY-A9PB-10A-01D-A38J-08 g.chrX:79938035C>T c.4326G>A c.(4324-4326)aaG>aaA p.K1442K BLCA 23 79939516 79939516 + Frame_Shift_Del DEL T T - TCGA-K4-A6FZ-01A-11D-A31L-08 TCGA-K4-A6FZ-10A-01D-A31J-08 g.chrX:79939516delT c.4226delA c.(4225-4227)aagfs p.K1409fs BLCA 23 79951411 79951411 + Silent SNP C C T TCGA-GU-A764-01A-11D-A34U-08 TCGA-GU-A764-10B-01D-A34X-08 g.chrX:79951411C>T c.3147G>A c.(3145-3147)caG>caA p.Q1049Q BLCA 23 79962978 79962978 + Missense_Mutation SNP C C T TCGA-GU-A764-01A-11D-A34U-08 TCGA-GU-A764-10B-01D-A34X-08 g.chrX:79962978C>T c.2500G>A c.(2500-2502)Gac>Aac p.D834N BLCA 23 79971671 79971671 + Silent SNP A A C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 g.chrX:79971671A>C c.2310T>G c.(2308-2310)tcT>tcG p.S770S BLCA 23 79973160 79973160 + Missense_Mutation SNP C C A TCGA-FD-A3B4-01A-12D-A202-08 TCGA-FD-A3B4-10A-01D-A202-08 g.chrX:79973160C>A c.2143G>T c.(2143-2145)Gct>Tct p.A715S BLCA 23 79984387 79984387 + Missense_Mutation SNP C C A TCGA-BT-A42F-01A-11D-A23U-08 TCGA-BT-A42F-10A-01D-A23U-08 g.chrX:79984387C>A c.1250G>T c.(1249-1251)gGa>gTa p.G417V BRCA 23 79932158 79932158 + Missense_Mutation SNP T T C TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chrX:79932158T>C c.5359A>G c.(5359-5361)Aaa>Gaa p.K1787E BRCA 23 79932203 79932203 + Missense_Mutation SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 g.chrX:79932203C>T c.5314G>A c.(5314-5316)Gag>Aag p.E1772K BRCA 23 79932420 79932420 + Missense_Mutation SNP T T A TCGA-A8-A08T-01A-21W-A019-09 TCGA-A8-A08T-10A-01W-A021-09 g.chrX:79932420T>A c.5097A>T c.(5095-5097)agA>agT p.R1699S BRCA 23 79939568 79939568 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 g.chrX:79939568T>C c.4174A>G c.(4174-4176)Aag>Gag p.K1392E BRCA 23 79947371 79947371 + Silent SNP G G A TCGA-JL-A3YX-01A-11D-A22X-09 TCGA-JL-A3YX-10A-01D-A22X-09 g.chrX:79947371G>A c.3432C>T c.(3430-3432)gaC>gaT p.D1144D BRCA 23 79948515 79948515 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chrX:79948515A>C c.3187T>G c.(3187-3189)Tgg>Ggg p.W1063G BRCA 23 79951434 79951434 + Missense_Mutation SNP C C T TCGA-GM-A2DI-01A-31D-A18P-09 TCGA-GM-A2DI-11A-13D-A18P-09 g.chrX:79951434C>T c.3124G>A c.(3124-3126)Gaa>Aaa p.E1042K BRCA 23 79959038 79959038 + Nonsense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 g.chrX:79959038G>A c.2776C>T c.(2776-2778)Cag>Tag p.Q926* BRCA 23 79971733 79971733 + Nonsense_Mutation SNP G G A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chrX:79971733G>A c.2248C>T c.(2248-2250)Cga>Tga p.R750* BRCA 23 79978166 79978166 + Missense_Mutation SNP C C G TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 g.chrX:79978166C>G c.1771G>C c.(1771-1773)Gat>Cat p.D591H BRCA 23 79979248 79979248 + Splice_Site SNP T T C TCGA-E9-A1R6-01A-11D-A14G-09 TCGA-E9-A1R6-10A-01D-A14G-09 g.chrX:79979248T>C c.1649A>G c.(1648-1650)aAg>aGg p.K550R BRCA 23 79980464 79980464 + Missense_Mutation SNP G G A TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 g.chrX:79980464G>A c.1489C>T c.(1489-1491)Cgg>Tgg p.R497W BRCA 23 79985496 79985496 + Missense_Mutation SNP C C G TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chrX:79985496C>G c.1151G>C c.(1150-1152)cGa>cCa p.R384P BRCA 23 79989644 79989644 + Missense_Mutation SNP C C G TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 g.chrX:79989644C>G c.1059G>C c.(1057-1059)gaG>gaC p.E353D BRCA 23 79990631 79990631 + Missense_Mutation SNP C C T TCGA-A8-A09W-01A-11W-A019-09 TCGA-A8-A09W-10A-01W-A021-09 g.chrX:79990631C>T c.980G>A c.(979-981)aGt>aAt p.S327N BRCA 23 79990688 79990688 + Missense_Mutation SNP G G C TCGA-E2-A15H-01A-11D-A12B-09 TCGA-E2-A15H-10A-01D-A12B-09 g.chrX:79990688G>C c.923C>G c.(922-924)cCg>cGg p.P308R BRCA 23 79990692 79990692 + Missense_Mutation SNP G G A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chrX:79990692G>A c.919C>T c.(919-921)Cgc>Tgc p.R307C BRCA 23 79999555 79999555 + Silent SNP A A G TCGA-A2-A25E-01A-11D-A167-09 TCGA-A2-A25E-10A-01D-A167-09 g.chrX:79999555A>G c.789T>C c.(787-789)caT>caC p.H263H BRCA 23 79999579 79999579 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chrX:79999579T>G c.765A>C c.(763-765)gcA>gcC p.A255A BRCA 23 80064047 80064047 + Silent SNP G G A TCGA-AC-A5XS-01A-11D-A29N-09 TCGA-AC-A5XS-11A-13D-A29N-09 g.chrX:80064047G>A c.171C>T c.(169-171)ttC>ttT p.F57F CESC 23 79932387 79932387 + Silent SNP C C G TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 g.chrX:79932387C>G c.5130G>C c.(5128-5130)ggG>ggC p.G1710G CESC 23 79936929 79936929 + Missense_Mutation SNP G G A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 g.chrX:79936929G>A c.4565C>T c.(4564-4566)tCg>tTg p.S1522L CESC 23 79942412 79942412 + Missense_Mutation SNP G G T TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 g.chrX:79942412G>T c.3955C>A c.(3955-3957)Cgt>Agt p.R1319S CESC 23 79946590 79946590 + Silent SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 g.chrX:79946590G>A c.3564C>T c.(3562-3564)ctC>ctT p.L1188L CESC 23 79955474 79955474 + Nonsense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 g.chrX:79955474C>T c.2925G>A c.(2923-2925)tgG>tgA p.W975* CESC 23 79965077 79965077 + Splice_Site SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 g.chrX:79965077C>T c.e21-1 CESC 23 79975055 79975055 + Silent SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 g.chrX:79975055G>A c.1977C>T c.(1975-1977)gaC>gaT p.D659D CESC 23 79980505 79980505 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 g.chrX:79980505G>A c.1448C>T c.(1447-1449)tCa>tTa p.S483L CESC 23 79991582 79991582 + Silent SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 g.chrX:79991582A>G c.819T>C c.(817-819)tgT>tgC p.C273C CESC 23 79999553 79999553 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 g.chrX:79999553G>A c.791C>T c.(790-792)tCa>tTa p.S264L CESC 23 79999566 79999566 + Missense_Mutation SNP G G C TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 g.chrX:79999566G>C c.778C>G c.(778-780)Ctt>Gtt p.L260V CESC 23 79999748 79999748 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 g.chrX:79999748G>A c.596C>T c.(595-597)tCa>tTa p.S199L CESC 23 80064057 80064057 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 g.chrX:80064057C>T c.161G>A c.(160-162)cGa>cAa p.R54Q CHOL 23 79941034 79941034 + Splice_Site SNP C C G TCGA-W5-AA31-01A-11D-A417-09 TCGA-W5-AA31-10A-01D-A41A-09 g.chrX:79941034C>G c.4007G>C c.(4006-4008)gGt>gCt p.G1336A CHOL 23 79946606 79946606 + Missense_Mutation SNP G G T TCGA-W5-AA2G-01A-11D-A417-09 TCGA-W5-AA2G-10A-01D-A41A-09 g.chrX:79946606G>T c.3548C>A c.(3547-3549)gCt>gAt p.A1183D COAD 23 79932215 79932215 + Missense_Mutation SNP A A C TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chrX:79932215A>C c.5302T>G c.(5302-5304)Ttt>Gtt p.F1768V COAD 23 79932281 79932281 + Nonsense_Mutation SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chrX:79932281G>A c.5236C>T c.(5236-5238)Cga>Tga p.R1746* COAD 23 79932401 79932401 + Missense_Mutation SNP C C G TCGA-CM-5864-01A-01D-1650-10 TCGA-CM-5864-10A-01D-1650-10 g.chrX:79932401C>G c.5116G>C c.(5116-5118)Ggg>Cgg p.G1706R COAD 23 79932529 79932529 + Missense_Mutation SNP C C A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chrX:79932529C>A c.4988G>T c.(4987-4989)aGa>aTa p.R1663I COAD 23 79932573 79932573 + Silent SNP G G T TCGA-AA-A029-01A-01W-A00E-09 TCGA-AA-A029-10A-01W-A00E-09 g.chrX:79932573G>T c.4944C>A c.(4942-4944)acC>acA p.T1648T COAD 23 79932704 79932704 + Missense_Mutation SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chrX:79932704C>T c.4813G>A c.(4813-4815)Gag>Aag p.E1605K COAD 23 79932823 79932823 + Missense_Mutation SNP C C T TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chrX:79932823C>T c.4694G>A c.(4693-4695)aGa>aAa p.R1565K COAD 23 79936867 79936867 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chrX:79936867G>A c.4627C>T c.(4627-4629)Cgg>Tgg p.R1543W COAD 23 79936922 79936922 + Silent SNP G G A TCGA-AZ-5407-01A-01D-1719-10 TCGA-AZ-5407-10A-01D-1719-10 g.chrX:79936922G>A c.4572C>T c.(4570-4572)ttC>ttT p.F1524F COAD 23 79936994 79936994 + Silent SNP T T C TCGA-CA-5796-01A-01D-1650-10 TCGA-CA-5796-10A-01D-1650-10 g.chrX:79936994T>C c.4500A>G c.(4498-4500)tcA>tcG p.S1500S COAD 23 79936994 79936994 + Silent SNP T T C TCGA-DM-A282-01A-12D-A16V-10 TCGA-DM-A282-10A-01D-A16V-10 g.chrX:79936994T>C c.4500A>G c.(4498-4500)tcA>tcG p.S1500S COAD 23 79936995 79936995 + Missense_Mutation SNP G G A TCGA-CM-5349-01A-21D-1719-10 TCGA-CM-5349-10A-01D-1719-10 g.chrX:79936995G>A c.4499C>T c.(4498-4500)tCa>tTa p.S1500L COAD 23 79936995 79936995 + Missense_Mutation SNP G G A TCGA-CM-6161-01A-11D-1650-10 TCGA-CM-6161-10A-01D-1650-10 g.chrX:79936995G>A c.4499C>T c.(4498-4500)tCa>tTa p.S1500L COAD 23 79936995 79936995 + Missense_Mutation SNP G G A TCGA-D5-6539-01A-11D-1719-10 TCGA-D5-6539-10A-01D-1719-10 g.chrX:79936995G>A c.4499C>T c.(4498-4500)tCa>tTa p.S1500L COAD 23 79938009 79938009 + Missense_Mutation SNP C C A TCGA-F4-6460-01A-11D-1771-10 TCGA-F4-6460-10B-01D-1771-10 g.chrX:79938009C>A c.4352G>T c.(4351-4353)cGt>cTt p.R1451L COAD 23 79938013 79938013 + Missense_Mutation SNP T T G TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chrX:79938013T>G c.4348A>C c.(4348-4350)Aaa>Caa p.K1450Q COAD 23 79939575 79939575 + Silent SNP T T C TCGA-CM-6164-01A-11D-1650-10 TCGA-CM-6164-10A-01D-1650-10 g.chrX:79939575T>C c.4167A>G c.(4165-4167)gaA>gaG p.E1389E COAD 23 79942391 79942391 + Nonsense_Mutation SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chrX:79942391G>A c.3976C>T c.(3976-3978)Cga>Tga p.R1326* COAD 23 79942391 79942391 + Nonsense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chrX:79942391G>A c.3976C>T c.(3976-3978)Cga>Tga p.R1326* COAD 23 79945281 79945281 + Missense_Mutation SNP T T C TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chrX:79945281T>C c.3793A>G c.(3793-3795)Act>Gct p.T1265A COAD 23 79945493 79945493 + Missense_Mutation SNP A A T TCGA-F4-6460-01A-11D-1771-10 TCGA-F4-6460-10B-01D-1771-10 g.chrX:79945493A>T c.3701T>A c.(3700-3702)gTa>gAa p.V1234E COAD 23 79945494 79945494 + Missense_Mutation SNP C C T TCGA-CK-5914-01A-11D-1650-10 TCGA-CK-5914-10A-01D-1650-10 g.chrX:79945494C>T c.3700G>A c.(3700-3702)Gta>Ata p.V1234I COAD 23 79946598 79946598 + Missense_Mutation SNP T T G TCGA-AA-3548-01A-01W-0831-10 TCGA-AA-3548-10A-01W-0831-10 g.chrX:79946598T>G c.3556A>C c.(3556-3558)Act>Cct p.T1186P COAD 23 79947430 79947430 + Missense_Mutation SNP C C T TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chrX:79947430C>T c.3373G>A c.(3373-3375)Gaa>Aaa p.E1125K COAD 23 79948464 79948464 + Missense_Mutation SNP T T A TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chrX:79948464T>A c.3238A>T c.(3238-3240)Agt>Tgt p.S1080C COAD 23 79952245 79952245 + Missense_Mutation SNP A A G TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chrX:79952245A>G c.3061T>C c.(3061-3063)Tcc>Ccc p.S1021P COAD 23 79964960 79964960 + Silent SNP T T C TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chrX:79964960T>C c.2442A>G c.(2440-2442)tcA>tcG p.S814S COAD 23 79965043 79965043 + Missense_Mutation SNP G G A TCGA-AA-3846-01A-01W-0995-10 TCGA-AA-3846-10A-01W-0995-10 g.chrX:79965043G>A c.2359C>T c.(2359-2361)Cgc>Tgc p.R787C COAD 23 79965043 79965043 + Missense_Mutation SNP G G A TCGA-AA-3848-01A-01W-0900-09 TCGA-AA-3848-10A-01W-0900-09 g.chrX:79965043G>A c.2359C>T c.(2359-2361)Cgc>Tgc p.R787C COAD 23 79971739 79971739 + Nonsense_Mutation SNP C C A TCGA-AZ-5407-01A-01D-1719-10 TCGA-AZ-5407-10A-01D-1719-10 g.chrX:79971739C>A c.2242G>T c.(2242-2244)Gaa>Taa p.E748* COAD 23 79973197 79973197 + Silent SNP A A G TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chrX:79973197A>G c.2106T>C c.(2104-2106)agT>agC p.S702S COAD 23 79975052 79975052 + Silent SNP C C A TCGA-F4-6460-01A-11D-1771-10 TCGA-F4-6460-10B-01D-1771-10 g.chrX:79975052C>A c.1980G>T c.(1978-1980)ctG>ctT p.L660L COAD 23 79978255 79978255 + Missense_Mutation SNP T T G TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chrX:79978255T>G c.1682A>C c.(1681-1683)tAt>tCt p.Y561S COAD 23 79979277 79979277 + Frame_Shift_Del DEL A A - TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chrX:79979277delA c.1620delT c.(1618-1620)tttfs p.F540fs COAD 23 79979332 79979332 + Missense_Mutation SNP G G A TCGA-D5-6534-01A-21D-1924-10 TCGA-D5-6534-10A-01D-1924-10 g.chrX:79979332G>A c.1565C>T c.(1564-1566)tCa>tTa p.S522L COAD 23 79984301 79984301 + Missense_Mutation SNP G G T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chrX:79984301G>T c.1336C>A c.(1336-1338)Ctt>Att p.L446I COAD 23 79984354 79984354 + Missense_Mutation SNP A A G TCGA-AA-A01P-01A-21W-A096-10 TCGA-AA-A01P-11A-11W-A096-10 g.chrX:79984354A>G c.1283T>C c.(1282-1284)aTg>aCg p.M428T COAD 23 79984405 79984405 + Splice_Site SNP C C A TCGA-AZ-5407-01A-01D-1719-10 TCGA-AZ-5407-10A-01D-1719-10 g.chrX:79984405C>A c.e14-1 COAD 23 79985427 79985427 + Missense_Mutation SNP G G T TCGA-CM-5868-01A-01D-1650-10 TCGA-CM-5868-10A-01D-1650-10 g.chrX:79985427G>T c.1220C>A c.(1219-1221)aCt>aAt p.T407N COAD 23 79985485 79985485 + Missense_Mutation SNP C C T TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chrX:79985485C>T c.1162G>A c.(1162-1164)Gca>Aca p.A388T COAD 23 79988966 79988966 + Silent SNP G G A TCGA-A6-6651-01A-21D-1835-10 TCGA-A6-6651-10A-01D-1835-10 g.chrX:79988966G>A c.1116C>T c.(1114-1116)aaC>aaT p.N372N COAD 23 79988967 79988967 + Missense_Mutation SNP T T C TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chrX:79988967T>C c.1115A>G c.(1114-1116)aAc>aGc p.N372S COAD 23 79989615 79989615 + Splice_Site SNP A A G TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chrX:79989615A>G c.e11+1 COAD 23 79990624 79990624 + Splice_Site SNP A A G TCGA-AZ-6605-01A-11D-1835-10 TCGA-AZ-6605-11A-01D-1835-10 g.chrX:79990624A>G c.e10+1 COAD 23 79990690 79990690 + Silent SNP G G A TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chrX:79990690G>A c.921C>T c.(919-921)cgC>cgT p.R307R COAD 23 79999631 79999631 + Missense_Mutation SNP G G A TCGA-G4-6625-01A-21D-1771-10 TCGA-G4-6625-11A-01D-1771-10 g.chrX:79999631G>A c.713C>T c.(712-714)gCt>gTt p.A238V COAD 23 79999706 79999706 + Missense_Mutation SNP C C T TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chrX:79999706C>T c.638G>A c.(637-639)cGc>cAc p.R213H COAD 23 80064039 80064039 + Splice_Site SNP A A G TCGA-G4-6626-01A-11D-1771-10 TCGA-G4-6626-10A-01D-1771-10 g.chrX:80064039A>G c.179T>C c.(178-180)cTg>cCg p.L60P COAD 23 80064520 80064520 + Missense_Mutation SNP C C T TCGA-G4-6315-01A-11D-1719-10 TCGA-G4-6315-10A-01D-1720-10 g.chrX:80064520C>T c.112G>A c.(112-114)Gag>Aag p.E38K COADREAD 23 79932215 79932215 + Missense_Mutation SNP A A C TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chrX:79932215A>C c.5302T>G c.(5302-5304)Ttt>Gtt p.F1768V COADREAD 23 79932281 79932281 + Nonsense_Mutation SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chrX:79932281G>A c.5236C>T c.(5236-5238)Cga>Tga p.R1746* COADREAD 23 79932401 79932401 + Missense_Mutation SNP C C G TCGA-CM-5864-01A-01D-1650-10 TCGA-CM-5864-10A-01D-1650-10 g.chrX:79932401C>G c.5116G>C c.(5116-5118)Ggg>Cgg p.G1706R COADREAD 23 79932529 79932529 + Missense_Mutation SNP C C A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chrX:79932529C>A c.4988G>T c.(4987-4989)aGa>aTa p.R1663I COADREAD 23 79932573 79932573 + Silent SNP G G T TCGA-AA-A029-01A-01W-A00E-09 TCGA-AA-A029-10A-01W-A00E-09 g.chrX:79932573G>T c.4944C>A c.(4942-4944)acC>acA p.T1648T COADREAD 23 79932704 79932704 + Missense_Mutation SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chrX:79932704C>T c.4813G>A c.(4813-4815)Gag>Aag p.E1605K COADREAD 23 79932823 79932823 + Missense_Mutation SNP C C T TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chrX:79932823C>T c.4694G>A c.(4693-4695)aGa>aAa p.R1565K COADREAD 23 79936867 79936867 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chrX:79936867G>A c.4627C>T c.(4627-4629)Cgg>Tgg p.R1543W COADREAD 23 79936922 79936922 + Silent SNP G G A TCGA-AZ-5407-01A-01D-1719-10 TCGA-AZ-5407-10A-01D-1719-10 g.chrX:79936922G>A c.4572C>T c.(4570-4572)ttC>ttT p.F1524F COADREAD 23 79936994 79936994 + Silent SNP T T C TCGA-CA-5796-01A-01D-1650-10 TCGA-CA-5796-10A-01D-1650-10 g.chrX:79936994T>C c.4500A>G c.(4498-4500)tcA>tcG p.S1500S COADREAD 23 79936994 79936994 + Silent SNP T T C TCGA-DM-A282-01A-12D-A16V-10 TCGA-DM-A282-10A-01D-A16V-10 g.chrX:79936994T>C c.4500A>G c.(4498-4500)tcA>tcG p.S1500S COADREAD 23 79936995 79936995 + Missense_Mutation SNP G G A TCGA-CM-5349-01A-21D-1719-10 TCGA-CM-5349-10A-01D-1719-10 g.chrX:79936995G>A c.4499C>T c.(4498-4500)tCa>tTa p.S1500L COADREAD 23 79936995 79936995 + Missense_Mutation SNP G G A TCGA-CM-6161-01A-11D-1650-10 TCGA-CM-6161-10A-01D-1650-10 g.chrX:79936995G>A c.4499C>T c.(4498-4500)tCa>tTa p.S1500L COADREAD 23 79936995 79936995 + Missense_Mutation SNP G G A TCGA-D5-6539-01A-11D-1719-10 TCGA-D5-6539-10A-01D-1719-10 g.chrX:79936995G>A c.4499C>T c.(4498-4500)tCa>tTa p.S1500L COADREAD 23 79938009 79938009 + Missense_Mutation SNP C C A TCGA-F4-6460-01A-11D-1771-10 TCGA-F4-6460-10B-01D-1771-10 g.chrX:79938009C>A c.4352G>T c.(4351-4353)cGt>cTt p.R1451L COADREAD 23 79938013 79938013 + Missense_Mutation SNP T T G TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chrX:79938013T>G c.4348A>C c.(4348-4350)Aaa>Caa p.K1450Q COADREAD 23 79939575 79939575 + Silent SNP T T C TCGA-CM-6164-01A-11D-1650-10 TCGA-CM-6164-10A-01D-1650-10 g.chrX:79939575T>C c.4167A>G c.(4165-4167)gaA>gaG p.E1389E COADREAD 23 79942391 79942391 + Nonsense_Mutation SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chrX:79942391G>A c.3976C>T c.(3976-3978)Cga>Tga p.R1326* COADREAD 23 79942391 79942391 + Nonsense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chrX:79942391G>A c.3976C>T c.(3976-3978)Cga>Tga p.R1326* COADREAD 23 79945281 79945281 + Missense_Mutation SNP T T C TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chrX:79945281T>C c.3793A>G c.(3793-3795)Act>Gct p.T1265A COADREAD 23 79945323 79945323 + Missense_Mutation SNP G G C TCGA-AG-3901-01A-01W-1073-09 TCGA-AG-3901-10A-01W-1073-09 g.chrX:79945323G>C c.3751C>G c.(3751-3753)Ctg>Gtg p.L1251V COADREAD 23 79945493 79945493 + Missense_Mutation SNP A A G TCGA-AG-3742-01A-11D-1657-10 TCGA-AG-3742-11A-01D-1657-10 g.chrX:79945493A>G c.3701T>C c.(3700-3702)gTa>gCa p.V1234A COADREAD 23 79945493 79945493 + Missense_Mutation SNP A A T TCGA-F4-6460-01A-11D-1771-10 TCGA-F4-6460-10B-01D-1771-10 g.chrX:79945493A>T c.3701T>A c.(3700-3702)gTa>gAa p.V1234E COADREAD 23 79945494 79945494 + Missense_Mutation SNP C C T TCGA-CK-5914-01A-11D-1650-10 TCGA-CK-5914-10A-01D-1650-10 g.chrX:79945494C>T c.3700G>A c.(3700-3702)Gta>Ata p.V1234I COADREAD 23 79946598 79946598 + Missense_Mutation SNP T T G TCGA-AA-3548-01A-01W-0831-10 TCGA-AA-3548-10A-01W-0831-10 g.chrX:79946598T>G c.3556A>C c.(3556-3558)Act>Cct p.T1186P COADREAD 23 79947430 79947430 + Missense_Mutation SNP C C T TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chrX:79947430C>T c.3373G>A c.(3373-3375)Gaa>Aaa p.E1125K COADREAD 23 79948460 79948460 + Missense_Mutation SNP G G T TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chrX:79948460G>T c.3242C>A c.(3241-3243)tCt>tAt p.S1081Y COADREAD 23 79948464 79948464 + Missense_Mutation SNP T T A TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chrX:79948464T>A c.3238A>T c.(3238-3240)Agt>Tgt p.S1080C COADREAD 23 79952245 79952245 + Missense_Mutation SNP A A G TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chrX:79952245A>G c.3061T>C c.(3061-3063)Tcc>Ccc p.S1021P COADREAD 23 79964960 79964960 + Silent SNP T T C TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chrX:79964960T>C c.2442A>G c.(2440-2442)tcA>tcG p.S814S COADREAD 23 79965043 79965043 + Missense_Mutation SNP G G A TCGA-AA-3846-01A-01W-0995-10 TCGA-AA-3846-10A-01W-0995-10 g.chrX:79965043G>A c.2359C>T c.(2359-2361)Cgc>Tgc p.R787C COADREAD 23 79965043 79965043 + Missense_Mutation SNP G G A TCGA-AA-3848-01A-01W-0900-09 TCGA-AA-3848-10A-01W-0900-09 g.chrX:79965043G>A c.2359C>T c.(2359-2361)Cgc>Tgc p.R787C COADREAD 23 79971739 79971739 + Nonsense_Mutation SNP C C A TCGA-AZ-5407-01A-01D-1719-10 TCGA-AZ-5407-10A-01D-1719-10 g.chrX:79971739C>A c.2242G>T c.(2242-2244)Gaa>Taa p.E748* COADREAD 23 79973197 79973197 + Silent SNP A A G TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chrX:79973197A>G c.2106T>C c.(2104-2106)agT>agC p.S702S COADREAD 23 79975052 79975052 + Silent SNP C C A TCGA-F4-6460-01A-11D-1771-10 TCGA-F4-6460-10B-01D-1771-10 g.chrX:79975052C>A c.1980G>T c.(1978-1980)ctG>ctT p.L660L COADREAD 23 79978255 79978255 + Missense_Mutation SNP T T G TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chrX:79978255T>G c.1682A>C c.(1681-1683)tAt>tCt p.Y561S COADREAD 23 79979277 79979277 + Frame_Shift_Del DEL A A - TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chrX:79979277delA c.1620delT c.(1618-1620)tttfs p.F540fs COADREAD 23 79979332 79979332 + Missense_Mutation SNP G G A TCGA-D5-6534-01A-21D-1924-10 TCGA-D5-6534-10A-01D-1924-10 g.chrX:79979332G>A c.1565C>T c.(1564-1566)tCa>tTa p.S522L COADREAD 23 79984252 79984252 + Splice_Site SNP G G T TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chrX:79984252G>T c.1385C>A c.(1384-1386)tCt>tAt p.S462Y COADREAD 23 79984301 79984301 + Missense_Mutation SNP G G T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chrX:79984301G>T c.1336C>A c.(1336-1338)Ctt>Att p.L446I COADREAD 23 79984354 79984354 + Missense_Mutation SNP A A G TCGA-AA-A01P-01A-21W-A096-10 TCGA-AA-A01P-11A-11W-A096-10 g.chrX:79984354A>G c.1283T>C c.(1282-1284)aTg>aCg p.M428T COADREAD 23 79984405 79984405 + Splice_Site SNP C C A TCGA-AZ-5407-01A-01D-1719-10 TCGA-AZ-5407-10A-01D-1719-10 g.chrX:79984405C>A c.e14-1 COADREAD 23 79985427 79985427 + Missense_Mutation SNP G G T TCGA-CM-5868-01A-01D-1650-10 TCGA-CM-5868-10A-01D-1650-10 g.chrX:79985427G>T c.1220C>A c.(1219-1221)aCt>aAt p.T407N COADREAD 23 79985485 79985485 + Missense_Mutation SNP C C T TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chrX:79985485C>T c.1162G>A c.(1162-1164)Gca>Aca p.A388T COADREAD 23 79988966 79988966 + Silent SNP G G A TCGA-A6-6651-01A-21D-1835-10 TCGA-A6-6651-10A-01D-1835-10 g.chrX:79988966G>A c.1116C>T c.(1114-1116)aaC>aaT p.N372N COADREAD 23 79988967 79988967 + Missense_Mutation SNP T T C TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chrX:79988967T>C c.1115A>G c.(1114-1116)aAc>aGc p.N372S COADREAD 23 79989615 79989615 + Splice_Site SNP A A G TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chrX:79989615A>G c.e11+1 COADREAD 23 79990624 79990624 + Splice_Site SNP A A G TCGA-AZ-6605-01A-11D-1835-10 TCGA-AZ-6605-11A-01D-1835-10 g.chrX:79990624A>G c.e10+1 COADREAD 23 79990690 79990690 + Silent SNP G G A TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chrX:79990690G>A c.921C>T c.(919-921)cgC>cgT p.R307R COADREAD 23 79999631 79999631 + Missense_Mutation SNP G G A TCGA-G4-6625-01A-21D-1771-10 TCGA-G4-6625-11A-01D-1771-10 g.chrX:79999631G>A c.713C>T c.(712-714)gCt>gTt p.A238V COADREAD 23 79999689 79999689 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chrX:79999689G>A c.655C>T c.(655-657)Cgt>Tgt p.R219C COADREAD 23 79999706 79999706 + Missense_Mutation SNP C C T TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chrX:79999706C>T c.638G>A c.(637-639)cGc>cAc p.R213H COADREAD 23 80001174 80001174 + Missense_Mutation SNP A A G TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chrX:80001174A>G c.485T>C c.(484-486)tTc>tCc p.F162S COADREAD 23 80064039 80064039 + Splice_Site SNP A A G TCGA-G4-6626-01A-11D-1771-10 TCGA-G4-6626-10A-01D-1771-10 g.chrX:80064039A>G c.179T>C c.(178-180)cTg>cCg p.L60P COADREAD 23 80064520 80064520 + Missense_Mutation SNP C C T TCGA-G4-6315-01A-11D-1719-10 TCGA-G4-6315-10A-01D-1720-10 g.chrX:80064520C>T c.112G>A c.(112-114)Gag>Aag p.E38K DLBC 23 80064532 80064532 + Nonsense_Mutation SNP G G A TCGA-FF-8042-01A-11D-2210-10 TCGA-FF-8042-10A-01D-2210-10 g.chrX:80064532G>A c.100C>T c.(100-102)Cag>Tag p.Q34* ESCA 23 79932174 79932174 + Silent SNP T T C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 g.chrX:79932174T>C c.5343A>G c.(5341-5343)agA>agG p.R1781R ESCA 23 79936909 79936909 + Silent SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 g.chrX:79936909G>T c.4585C>A c.(4585-4587)Cga>Aga p.R1529R ESCA 23 79939516 79939516 + Missense_Mutation SNP T T C TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 g.chrX:79939516T>C c.4226A>G c.(4225-4227)aAg>aGg p.K1409R ESCA 23 79940990 79940990 + Missense_Mutation SNP C C G TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 g.chrX:79940990C>G c.4051G>C c.(4051-4053)Gaa>Caa p.E1351Q ESCA 23 79947627 79947627 + Nonsense_Mutation SNP T T A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 g.chrX:79947627T>A c.3286A>T c.(3286-3288)Aag>Tag p.K1096* ESCA 23 80001094 80001094 + Missense_Mutation SNP C C G TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 g.chrX:80001094C>G c.565G>C c.(565-567)Gac>Cac p.D189H GBM 23 79938109 79938109 + Nonsense_Mutation SNP G G A TCGA-27-1833-01A-01W-0643-08 TCGA-27-1833-10A-01W-0644-08 g.chrX:79938109G>A c.4252C>T c.(4252-4254)Cga>Tga p.R1418* GBM 23 79960260 79960260 + Missense_Mutation SNP G G A TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 g.chrX:79960260G>A c.2638C>T c.(2638-2640)Cgt>Tgt p.R880C GBM 23 79999713 79999713 + Missense_Mutation SNP C C T TCGA-76-4928-01B-01D-1486-08 TCGA-76-4928-10A-01D-1486-08 g.chrX:79999713C>T c.631G>A c.(631-633)Gat>Aat p.D211N GBMLGG 23 79932200 79932200 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chrX:79932200C>A c.5317G>T c.(5317-5319)Gat>Tat p.D1773Y GBMLGG 23 79932253 79932253 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chrX:79932253C>A c.5264G>T c.(5263-5265)aGg>aTg p.R1755M GBMLGG 23 79932312 79932312 + Silent SNP G G A TCGA-HT-7691-01A-11D-2253-08 TCGA-HT-7691-10A-01D-2253-08 g.chrX:79932312G>A c.5205C>T c.(5203-5205)acC>acT p.T1735T GBMLGG 23 79932815 79932815 + Missense_Mutation SNP G G A TCGA-TQ-A7RM-01A-11D-A33T-08 TCGA-TQ-A7RM-10A-01D-A33W-08 g.chrX:79932815G>A c.4702C>T c.(4702-4704)Cgg>Tgg p.R1568W GBMLGG 23 79938109 79938109 + Nonsense_Mutation SNP G G A TCGA-27-1833-01A-01W-0643-08 TCGA-27-1833-10A-01W-0644-08 g.chrX:79938109G>A c.4252C>T c.(4252-4254)Cga>Tga p.R1418* GBMLGG 23 79942476 79942476 + Silent SNP A A G TCGA-P5-A5EX-01A-12D-A289-08 TCGA-P5-A5EX-10A-01D-A289-08 g.chrX:79942476A>G c.3891T>C c.(3889-3891)tcT>tcC p.S1297S GBMLGG 23 79960260 79960260 + Missense_Mutation SNP G G A TCGA-28-5209-01A-01D-1486-08 TCGA-28-5209-10A-01D-1486-08 g.chrX:79960260G>A c.2638C>T c.(2638-2640)Cgt>Tgt p.R880C GBMLGG 23 79973207 79973207 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chrX:79973207C>T c.2096G>A c.(2095-2097)cGa>cAa p.R699Q GBMLGG 23 79999713 79999713 + Missense_Mutation SNP C C T TCGA-76-4928-01B-01D-1486-08 TCGA-76-4928-10A-01D-1486-08 g.chrX:79999713C>T c.631G>A c.(631-633)Gat>Aat p.D211N HNSC 23 79932626 79932626 + Missense_Mutation SNP T T A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 g.chrX:79932626T>A c.4891A>T c.(4891-4893)Aca>Tca p.T1631S HNSC 23 79932674 79932674 + Missense_Mutation SNP A A G TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 g.chrX:79932674A>G c.4843T>C c.(4843-4845)Tct>Cct p.S1615P HNSC 23 79932685 79932685 + Missense_Mutation SNP G G A TCGA-CN-A49A-01A-11D-A24D-08 TCGA-CN-A49A-10A-01D-A24F-08 g.chrX:79932685G>A c.4832C>T c.(4831-4833)tCc>tTc p.S1611F HNSC 23 79938022 79938022 + Missense_Mutation SNP G G A TCGA-HD-A4C1-01A-11D-A24D-08 TCGA-HD-A4C1-10A-02D-A24F-08 g.chrX:79938022G>A c.4339C>T c.(4339-4341)Cgg>Tgg p.R1447W HNSC 23 79939569 79939569 + Nonsense_Mutation SNP A A T TCGA-QK-A64Z-01A-11D-A30E-08 TCGA-QK-A64Z-10A-01D-A30H-08 g.chrX:79939569A>T c.4173T>A c.(4171-4173)taT>taA p.Y1391* HNSC 23 79945534 79945534 + Silent SNP G G A TCGA-P3-A5QF-01A-11D-A28R-08 TCGA-P3-A5QF-10A-01D-A28U-08 g.chrX:79945534G>A c.3660C>T c.(3658-3660)ttC>ttT p.F1220F HNSC 23 79946660 79946660 + Missense_Mutation SNP G G C TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 g.chrX:79946660G>C c.3494C>G c.(3493-3495)cCt>cGt p.P1165R HNSC 23 79947378 79947378 + Missense_Mutation SNP G G A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 g.chrX:79947378G>A c.3425C>T c.(3424-3426)tCc>tTc p.S1142F HNSC 23 79955510 79955510 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chrX:79955510C>T c.2889G>A c.(2887-2889)tcG>tcA p.S963S HNSC 23 79960224 79960224 + Nonsense_Mutation SNP T T A TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 g.chrX:79960224T>A c.2674A>T c.(2674-2676)Aag>Tag p.K892* HNSC 23 79975057 79975057 + Missense_Mutation SNP C C G TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 g.chrX:79975057C>G c.1975G>C c.(1975-1977)Gac>Cac p.D659H HNSC 23 79975138 79975138 + Missense_Mutation SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 g.chrX:79975138C>T c.1894G>A c.(1894-1896)Gaa>Aaa p.E632K HNSC 23 79978124 79978124 + Missense_Mutation SNP C C T TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 g.chrX:79978124C>T c.1813G>A c.(1813-1815)Gta>Ata p.V605I HNSC 23 79979296 79979296 + Missense_Mutation SNP T T C TCGA-CR-6470-01A-11D-1870-08 TCGA-CR-6470-10A-01D-1870-08 g.chrX:79979296T>C c.1601A>G c.(1600-1602)cAt>cGt p.H534R HNSC 23 79980467 79980467 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 g.chrX:79980467C>T c.1486G>A c.(1486-1488)Gac>Aac p.D496N HNSC 23 79980560 79980560 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 g.chrX:79980560C>T c.1393G>A c.(1393-1395)Gat>Aat p.D465N HNSC 23 79988994 79988994 + Splice_Site SNP T T C TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 g.chrX:79988994T>C c.1088A>G c.(1087-1089)gAt>gGt p.D363G HNSC 23 79989634 79989634 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 g.chrX:79989634C>T c.1069G>A c.(1069-1071)Gaa>Aaa p.E357K HNSC 23 79990684 79990684 + Silent SNP C C T TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 g.chrX:79990684C>T c.927G>A c.(925-927)gtG>gtA p.V309V HNSC 23 79991559 79991559 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chrX:79991559C>T c.842G>A c.(841-843)aGa>aAa p.R281K HNSC 23 79999597 79999597 + Missense_Mutation SNP C C G TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 g.chrX:79999597C>G c.747G>C c.(745-747)tgG>tgC p.W249C HNSC 23 79999617 79999617 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 g.chrX:79999617C>T c.727G>A c.(727-729)Gat>Aat p.D243N HNSC 23 79999656 79999656 + Missense_Mutation SNP C C A TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 g.chrX:79999656C>A c.688G>T c.(688-690)Gtt>Ttt p.V230F HNSC 23 79999689 79999689 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 g.chrX:79999689G>A c.655C>T c.(655-657)Cgt>Tgt p.R219C HNSC 23 80001091 80001091 + Nonsense_Mutation SNP G G A TCGA-KU-A66T-01A-11D-A30E-08 TCGA-KU-A66T-10A-01D-A30H-08 g.chrX:80001091G>A c.568C>T c.(568-570)Cga>Tga p.R190* HNSC 23 80001189 80001189 + Missense_Mutation SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 g.chrX:80001189C>T c.470G>A c.(469-471)cGc>cAc p.R157H HNSC 23 80049247 80049247 + Missense_Mutation SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 g.chrX:80049247G>C c.205C>G c.(205-207)Cca>Gca p.P69A KICH 23 79932729 79932729 + Silent SNP T T C TCGA-KO-8413-01A-11D-2310-10 TCGA-KO-8413-11A-01D-2311-10 g.chrX:79932729T>C c.4788A>G c.(4786-4788)aaA>aaG p.K1596K KICH 23 79989615 79989615 + Splice_Site SNP A A G TCGA-KO-8410-01A-11D-2310-10 TCGA-KO-8410-11A-01D-2311-10 g.chrX:79989615A>G c.e11+1 KIPAN 23 79932729 79932729 + Silent SNP T T C TCGA-KO-8413-01A-11D-2310-10 TCGA-KO-8413-11A-01D-2311-10 g.chrX:79932729T>C c.4788A>G c.(4786-4788)aaA>aaG p.K1596K KIPAN 23 79939596 79939596 + Silent SNP T T C TCGA-B0-4828-01A-01D-1361-10 TCGA-B0-4828-11A-01D-1361-10 g.chrX:79939596T>C c.4146A>G c.(4144-4146)ggA>ggG p.G1382G KIPAN 23 79941024 79941024 + Silent SNP C C T TCGA-B8-5553-01A-01D-1534-10 TCGA-B8-5553-10A-01D-1535-10 g.chrX:79941024C>T c.4017G>A c.(4015-4017)gaG>gaA p.E1339E KIPAN 23 79948521 79948521 + Missense_Mutation SNP C C T TCGA-CZ-4859-01A-02D-1429-08 TCGA-CZ-4859-11A-01D-1429-08 g.chrX:79948521C>T c.3181G>A c.(3181-3183)Gcc>Acc p.A1061T KIPAN 23 79989615 79989615 + Splice_Site SNP A A G TCGA-KO-8410-01A-11D-2310-10 TCGA-KO-8410-11A-01D-2311-10 g.chrX:79989615A>G c.e11+1 KIPAN 23 79991541 79991541 + Missense_Mutation SNP C C G TCGA-CJ-5686-01A-11D-1669-08 TCGA-CJ-5686-11A-01D-1669-08 g.chrX:79991541C>G c.860G>C c.(859-861)gGt>gCt p.G287A KIPAN 23 80001213 80001213 + Missense_Mutation SNP G G A TCGA-Q2-A5QZ-01A-11D-A28G-10 TCGA-Q2-A5QZ-10A-01D-A28G-10 g.chrX:80001213G>A c.446C>T c.(445-447)gCc>gTc p.A149V KIRC 23 79939596 79939596 + Silent SNP T T C TCGA-B0-4828-01A-01D-1361-10 TCGA-B0-4828-11A-01D-1361-10 g.chrX:79939596T>C c.4146A>G c.(4144-4146)ggA>ggG p.G1382G KIRC 23 79941024 79941024 + Silent SNP C C T TCGA-B8-5553-01A-01D-1534-10 TCGA-B8-5553-10A-01D-1535-10 g.chrX:79941024C>T c.4017G>A c.(4015-4017)gaG>gaA p.E1339E KIRC 23 79948521 79948521 + Missense_Mutation SNP C C T TCGA-CZ-4859-01A-02D-1429-08 TCGA-CZ-4859-11A-01D-1429-08 g.chrX:79948521C>T c.3181G>A c.(3181-3183)Gcc>Acc p.A1061T KIRC 23 79991541 79991541 + Missense_Mutation SNP C C G TCGA-CJ-5686-01A-11D-1669-08 TCGA-CJ-5686-11A-01D-1669-08 g.chrX:79991541C>G c.860G>C c.(859-861)gGt>gCt p.G287A KIRP 23 80001213 80001213 + Missense_Mutation SNP G G A TCGA-Q2-A5QZ-01A-11D-A28G-10 TCGA-Q2-A5QZ-10A-01D-A28G-10 g.chrX:80001213G>A c.446C>T c.(445-447)gCc>gTc p.A149V LAML 23 79988964 79988964 + Missense_Mutation SNP T T C TCGA-AB-2887-03A-01W-0732-08 TCGA-AB-2887-11A-01W-0732-08 g.chrX:79988964T>C c.1118A>G c.(1117-1119)aAt>aGt p.N373S LGG 23 79932200 79932200 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chrX:79932200C>A c.5317G>T c.(5317-5319)Gat>Tat p.D1773Y LGG 23 79932253 79932253 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chrX:79932253C>A c.5264G>T c.(5263-5265)aGg>aTg p.R1755M LGG 23 79932312 79932312 + Silent SNP G G A TCGA-HT-7691-01A-11D-2253-08 TCGA-HT-7691-10A-01D-2253-08 g.chrX:79932312G>A c.5205C>T c.(5203-5205)acC>acT p.T1735T LGG 23 79932815 79932815 + Missense_Mutation SNP G G A TCGA-TQ-A7RM-01A-11D-A33T-08 TCGA-TQ-A7RM-10A-01D-A33W-08 g.chrX:79932815G>A c.4702C>T c.(4702-4704)Cgg>Tgg p.R1568W LGG 23 79942476 79942476 + Silent SNP A A G TCGA-P5-A5EX-01A-12D-A289-08 TCGA-P5-A5EX-10A-01D-A289-08 g.chrX:79942476A>G c.3891T>C c.(3889-3891)tcT>tcC p.S1297S LGG 23 79973207 79973207 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chrX:79973207C>T c.2096G>A c.(2095-2097)cGa>cAa p.R699Q LIHC 23 79937564 79937576 + Frame_Shift_Del DEL AACTTCATTTGTT AACTTCATTTGTT - TCGA-MI-A75G-01A-11D-A32G-10 TCGA-MI-A75G-10A-01D-A32G-10 g.chrX:79937564_79937576delAACTTCATTTGTT c.4415_4427delAACAAATGAAGTT c.(4414-4428)aaacaaatgaagttgfs p.KQMKL1472fs LIHC 23 79938011 79938011 + Frame_Shift_Del DEL T T - TCGA-DD-A3A0-01A-11D-A20W-10 TCGA-DD-A3A0-11A-11D-A20W-10 g.chrX:79938011delT c.4350delA c.(4348-4350)aaafs p.K1450fs LIHC 23 79947359 79947359 + Silent SNP T T C TCGA-DD-A3A1-01A-11D-A20W-10 TCGA-DD-A3A1-11A-11D-A20W-10 g.chrX:79947359T>C c.3444A>G c.(3442-3444)gaA>gaG p.E1148E LIHC 23 79965042 79965042 + Missense_Mutation SNP C C T TCGA-4R-AA8I-01A-11D-A382-10 TCGA-4R-AA8I-10B-01D-A385-10 g.chrX:79965042C>T c.2360G>A c.(2359-2361)cGc>cAc p.R787H LIHC 23 79971674 79971674 + Silent SNP T T C TCGA-5R-AAAM-01A-12D-A40R-10 TCGA-5R-AAAM-10A-01D-A40U-10 g.chrX:79971674T>C c.2307A>G c.(2305-2307)ccA>ccG p.P769P LIHC 23 79979304 79979304 + Silent SNP T T C TCGA-UB-A7MB-01A-11D-A33Q-10 TCGA-UB-A7MB-10A-01D-A33Q-10 g.chrX:79979304T>C c.1593A>G c.(1591-1593)acA>acG p.T531T LIHC 23 79989645 79989645 + Missense_Mutation SNP T T A TCGA-CC-A5UD-01A-11D-A28X-10 TCGA-CC-A5UD-10A-01D-A28X-10 g.chrX:79989645T>A c.1058A>T c.(1057-1059)gAg>gTg p.E353V LUAD 23 79932142 79932142 + Missense_Mutation SNP G G C TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 g.chrX:79932142G>C c.5375C>G c.(5374-5376)gCc>gGc p.A1792G LUAD 23 79932147 79932147 + Silent SNP T T C TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 g.chrX:79932147T>C c.5370A>G c.(5368-5370)gaA>gaG p.E1790E LUAD 23 79932261 79932261 + Missense_Mutation SNP T T A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 g.chrX:79932261T>A c.5256A>T c.(5254-5256)caA>caT p.Q1752H LUAD 23 79932289 79932289 + Missense_Mutation SNP C C T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 g.chrX:79932289C>T c.5228G>A c.(5227-5229)aGa>aAa p.R1743K LUAD 23 79932311 79932311 + Missense_Mutation SNP T T G TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 g.chrX:79932311T>G c.5206A>C c.(5206-5208)Atg>Ctg p.M1736L LUAD 23 79932441 79932441 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 g.chrX:79932441C>A c.5076G>T c.(5074-5076)agG>agT p.R1692S LUAD 23 79932535 79932535 + Missense_Mutation SNP C C G TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 g.chrX:79932535C>G c.4982G>C c.(4981-4983)gGa>gCa p.G1661A LUAD 23 79932688 79932688 + Missense_Mutation SNP C C A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 g.chrX:79932688C>A c.4829G>T c.(4828-4830)gGa>gTa p.G1610V LUAD 23 79936893 79936893 + Missense_Mutation SNP T T C TCGA-17-Z015-01A-01W-0746-08 TCGA-17-Z015-11A-01W-0746-08 g.chrX:79936893T>C c.4601A>G c.(4600-4602)cAt>cGt p.H1534R LUAD 23 79936970 79936970 + Silent SNP T T C TCGA-44-2656-01A-02D-0969-08 TCGA-44-2656-10A-01D-0969-08 g.chrX:79936970T>C c.4524A>G c.(4522-4524)ctA>ctG p.L1508L LUAD 23 79936987 79936987 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 g.chrX:79936987C>A c.4507G>T c.(4507-4509)Gct>Tct p.A1503S LUAD 23 79937522 79937522 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 g.chrX:79937522C>A c.4469G>T c.(4468-4470)aGg>aTg p.R1490M LUAD 23 79937526 79937526 + Missense_Mutation SNP C C A TCGA-49-4514-01A-21D-1855-08 TCGA-49-4514-11A-01D-1855-08 g.chrX:79937526C>A c.4465G>T c.(4465-4467)Gcc>Tcc p.A1489S LUAD 23 79938052 79938052 + Missense_Mutation SNP C C G TCGA-55-6975-01A-11D-1945-08 TCGA-55-6975-11A-01D-1945-08 g.chrX:79938052C>G c.4309G>C c.(4309-4311)Gca>Cca p.A1437P LUAD 23 79939515 79939515 + Missense_Mutation SNP C C A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 g.chrX:79939515C>A c.4227G>T c.(4225-4227)aaG>aaT p.K1409N LUAD 23 79939645 79939645 + Missense_Mutation SNP A A T TCGA-55-7995-01A-11D-2184-08 TCGA-55-7995-10A-01D-2184-08 g.chrX:79939645A>T c.4097T>A c.(4096-4098)aTa>aAa p.I1366K LUAD 23 79945592 79945592 + Splice_Site SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 g.chrX:79945592C>A c.e32-1 LUAD 23 79947425 79947425 + Missense_Mutation SNP C C A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 g.chrX:79947425C>A c.3378G>T c.(3376-3378)ttG>ttT p.L1126F LUAD 23 79947450 79947450 + Missense_Mutation SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 g.chrX:79947450C>G c.3353G>C c.(3352-3354)gGt>gCt p.G1118A LUAD 23 79951407 79951407 + Splice_Site SNP C C A TCGA-44-8119-01A-11D-2238-08 TCGA-44-8119-10A-01D-2238-08 g.chrX:79951407C>A c.3151G>T c.(3151-3153)Ggt>Tgt p.G1051C LUAD 23 79951409 79951409 + Missense_Mutation SNP A A T TCGA-44-8119-01A-11D-2238-08 TCGA-44-8119-10A-01D-2238-08 g.chrX:79951409A>T c.3149T>A c.(3148-3150)aTt>aAt p.I1050N LUAD 23 79951432 79951432 + Missense_Mutation SNP T T A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 g.chrX:79951432T>A c.3126A>T c.(3124-3126)gaA>gaT p.E1042D LUAD 23 79951433 79951433 + Missense_Mutation SNP T T A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 g.chrX:79951433T>A c.3125A>T c.(3124-3126)gAa>gTa p.E1042V LUAD 23 79952243 79952243 + Silent SNP G G A TCGA-95-7043-01A-11D-1945-08 TCGA-95-7043-10A-01D-1946-08 g.chrX:79952243G>A c.3063C>T c.(3061-3063)tcC>tcT p.S1021S LUAD 23 79960191 79960191 + Missense_Mutation SNP G G T TCGA-95-7043-01A-11D-1945-08 TCGA-95-7043-10A-01D-1946-08 g.chrX:79960191G>T c.2707C>A c.(2707-2709)Cag>Aag p.Q903K LUAD 23 79960239 79960239 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 g.chrX:79960239C>A c.2659G>T c.(2659-2661)Gat>Tat p.D887Y LUAD 23 79962959 79962959 + Missense_Mutation SNP G G C TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 g.chrX:79962959G>C c.2519C>G c.(2518-2520)cCt>cGt p.P840R LUAD 23 79962989 79962989 + Missense_Mutation SNP A A G TCGA-95-A4VN-01A-11D-A25L-08 TCGA-95-A4VN-10A-01D-A25L-08 g.chrX:79962989A>G c.2489T>C c.(2488-2490)gTt>gCt p.V830A LUAD 23 79965005 79965005 + Silent SNP T T C TCGA-55-8614-01A-11D-2393-08 TCGA-55-8614-10A-01D-2393-08 g.chrX:79965005T>C c.2397A>G c.(2395-2397)acA>acG p.T799T LUAD 23 79973080 79973080 + Silent SNP C C A TCGA-05-4424-01A-22D-1855-08 TCGA-05-4424-10A-01D-1855-08 g.chrX:79973080C>A c.2223G>T c.(2221-2223)ggG>ggT p.G741G LUAD 23 79975018 79975018 + Missense_Mutation SNP G G A TCGA-17-Z015-01A-01W-0746-08 TCGA-17-Z015-11A-01W-0746-08 g.chrX:79975018G>A c.2014C>T c.(2014-2016)Cca>Tca p.P672S LUAD 23 79975054 79975054 + Missense_Mutation SNP G G T TCGA-73-4670-01A-01D-1265-08 TCGA-73-4670-11A-01D-1265-08 g.chrX:79975054G>T c.1978C>A c.(1978-1980)Ctg>Atg p.L660M LUAD 23 79978129 79978129 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chrX:79978129C>A c.1808G>T c.(1807-1809)cGg>cTg p.R603L LUAD 23 79978180 79978180 + Missense_Mutation SNP G G A TCGA-86-A456-01A-11D-A24D-08 TCGA-86-A456-10A-01D-A24F-08 g.chrX:79978180G>A c.1757C>T c.(1756-1758)cCt>cTt p.P586L LUAD 23 79978183 79978183 + Missense_Mutation SNP G G C TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 g.chrX:79978183G>C c.1754C>G c.(1753-1755)cCt>cGt p.P585R LUAD 23 79978262 79978262 + Missense_Mutation SNP T T A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 g.chrX:79978262T>A c.1675A>T c.(1675-1677)Acg>Tcg p.T559S LUAD 23 79980529 79980529 + Missense_Mutation SNP G G A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 g.chrX:79980529G>A c.1424C>T c.(1423-1425)cCa>cTa p.P475L LUAD 23 79984377 79984377 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 g.chrX:79984377C>A c.1260G>T c.(1258-1260)aaG>aaT p.K420N LUAD 23 79989634 79989634 + Nonsense_Mutation SNP C C A TCGA-86-8671-01A-11D-2393-08 TCGA-86-8671-10A-01D-2393-08 g.chrX:79989634C>A c.1069G>T c.(1069-1071)Gaa>Taa p.E357* LUAD 23 79991526 79991526 + Missense_Mutation SNP A A T TCGA-55-8510-01A-11D-2393-08 TCGA-55-8510-10A-01D-2393-08 g.chrX:79991526A>T c.875T>A c.(874-876)aTc>aAc p.I292N LUAD 23 79999660 79999660 + Missense_Mutation SNP C C A TCGA-95-7039-01A-11D-1945-08 TCGA-95-7039-10A-01D-1946-08 g.chrX:79999660C>A c.684G>T c.(682-684)atG>atT p.M228I LUAD 23 79999689 79999689 + Missense_Mutation SNP G G A TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 g.chrX:79999689G>A c.655C>T c.(655-657)Cgt>Tgt p.R219C LUAD 23 80001181 80001181 + Missense_Mutation SNP G G T TCGA-17-Z022-01A-01W-0746-08 TCGA-17-Z022-11A-01W-0746-08 g.chrX:80001181G>T c.478C>A c.(478-480)Cat>Aat p.H160N LUAD 23 80001181 80001181 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 g.chrX:80001181G>T c.478C>A c.(478-480)Cat>Aat p.H160N LUAD 23 80001218 80001218 + Silent SNP G G T TCGA-80-5611-01A-01D-1625-08 TCGA-80-5611-10A-01D-1625-08 g.chrX:80001218G>T c.441C>A c.(439-441)acC>acA p.T147T LUAD 23 80047410 80047410 + Silent SNP G G A TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 g.chrX:80047410G>A c.373C>T c.(373-375)Ctg>Ttg p.L125L LUSC 23 79932487 79932487 + Missense_Mutation SNP C C T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 g.chrX:79932487C>T c.5030G>A c.(5029-5031)gGa>gAa p.G1677E LUSC 23 79936891 79936891 + Missense_Mutation SNP C C A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 g.chrX:79936891C>A c.4603G>T c.(4603-4605)Gac>Tac p.D1535Y LUSC 23 79937529 79937529 + Missense_Mutation SNP G G A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 g.chrX:79937529G>A c.4462C>T c.(4462-4464)Cat>Tat p.H1488Y LUSC 23 79945466 79945466 + Splice_Site SNP C C A TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 g.chrX:79945466C>A c.3728G>T c.(3727-3729)gGg>gTg p.G1243V LUSC 23 79946652 79946652 + Missense_Mutation SNP C C T TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 g.chrX:79946652C>T c.3502G>A c.(3502-3504)Gtt>Att p.V1168I LUSC 23 79971739 79971739 + Missense_Mutation SNP C C T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 g.chrX:79971739C>T c.2242G>A c.(2242-2244)Gaa>Aaa p.E748K LUSC 23 79974986 79974986 + Splice_Site SNP A A T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 g.chrX:79974986A>T c.e18+1 LUSC 23 79975093 79975093 + Missense_Mutation SNP G G C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 g.chrX:79975093G>C c.1939C>G c.(1939-1941)Ctt>Gtt p.L647V LUSC 23 79975108 79975108 + Missense_Mutation SNP G G T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 g.chrX:79975108G>T c.1924C>A c.(1924-1926)Caa>Aaa p.Q642K LUSC 23 79978075 79978075 + Missense_Mutation SNP C C A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 g.chrX:79978075C>A c.1862G>T c.(1861-1863)gGa>gTa p.G621V LUSC 23 79978191 79978191 + Missense_Mutation SNP G G T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 g.chrX:79978191G>T c.1746C>A c.(1744-1746)caC>caA p.H582Q LUSC 23 79999534 79999534 + Silent SNP T T A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 g.chrX:79999534T>A c.810A>T c.(808-810)atA>atT p.I270I LUSC 23 79999572 79999572 + Missense_Mutation SNP C C A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 g.chrX:79999572C>A c.772G>T c.(772-774)Gca>Tca p.A258S LUSC 23 79999630 79999630 + Silent SNP A A G TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 g.chrX:79999630A>G c.714T>C c.(712-714)gcT>gcC p.A238A LUSC 23 79999651 79999651 + Missense_Mutation SNP G G C TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 g.chrX:79999651G>C c.693C>G c.(691-693)aaC>aaG p.N231K LUSC 23 80047436 80047436 + Missense_Mutation SNP A A T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 g.chrX:80047436A>T c.347T>A c.(346-348)cTa>cAa p.L116Q LUSC 23 80064747 80064747 + Nonsense_Mutation SNP G G A TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 g.chrX:80064747G>A c.88C>T c.(88-90)Cag>Tag p.Q30* OV 23 79932616 79932616 + Missense_Mutation SNP T T A TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 g.chrX:79932616T>A c.4901A>T c.(4900-4902)gAt>gTt p.D1634V OV 23 79936995 79936995 + Nonsense_Mutation SNP G G C TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 g.chrX:79936995G>C c.4499C>G c.(4498-4500)tCa>tGa p.S1500* OV 23 79943572 79943572 + Missense_Mutation SNP C C T TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 g.chrX:79943572C>T c.3860G>A c.(3859-3861)aGa>aAa p.R1287K OV 23 79945493 79945493 + Missense_Mutation SNP A A C TCGA-24-2293-01A-01W-0799-08 TCGA-24-2293-10A-01W-0799-08 g.chrX:79945493A>C c.3701T>G c.(3700-3702)gTa>gGa p.V1234G OV 23 79947320 79947320 + Splice_Site SNP A A T TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 g.chrX:79947320A>T c.e30+1 OV 23 79988966 79988966 + Silent SNP G G A TCGA-09-1666-01A-01W-0615-10 TCGA-09-1666-10A-01W-0616-10 g.chrX:79988966G>A c.1116C>T c.(1114-1116)aaC>aaT p.N372N OV 23 79989661 79989674 + Frame_Shift_Del DEL CCAAATAATATATT CCAAATAATATATT - TCGA-24-1423-01A-01W-0545-08 TCGA-24-1423-10A-01W-0545-08 g.chrX:79989661_79989674delCCAAATAATATATT c.1029_1042delAATATATTATTTGG c.(1027-1044)agaatatattatttgggtfs p.IYYLG344fs PAAD 23 79932615 79932615 + Missense_Mutation SNP A A C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chrX:79932615A>C c.4902T>G c.(4900-4902)gaT>gaG p.D1634E PAAD 23 79932771 79932771 + Missense_Mutation SNP A A C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chrX:79932771A>C c.4746T>G c.(4744-4746)gaT>gaG p.D1582E PAAD 23 79932804 79932804 + Silent SNP G G A TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 g.chrX:79932804G>A c.4713C>T c.(4711-4713)atC>atT p.I1571I PAAD 23 79938009 79938009 + Missense_Mutation SNP C C T TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 g.chrX:79938009C>T c.4352G>A c.(4351-4353)cGt>cAt p.R1451H PAAD 23 79945476 79945476 + Nonsense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chrX:79945476G>A c.3718C>T c.(3718-3720)Cga>Tga p.R1240* PAAD 23 79971717 79971717 + Missense_Mutation SNP T T A TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 g.chrX:79971717T>A c.2264A>T c.(2263-2265)gAc>gTc p.D755V PAAD 23 79971738 79971738 + Missense_Mutation SNP T T A TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 g.chrX:79971738T>A c.2243A>T c.(2242-2244)gAa>gTa p.E748V PAAD 23 79979292 79979292 + Silent SNP T T C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chrX:79979292T>C c.1605A>G c.(1603-1605)ggA>ggG p.G535G PAAD 23 79985487 79985487 + Missense_Mutation SNP G G A TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 g.chrX:79985487G>A c.1160C>T c.(1159-1161)aCg>aTg p.T387M PCPG 23 79999587 79999587 + Missense_Mutation SNP T T C TCGA-W2-A7HA-01B-11D-A35I-08 TCGA-W2-A7HA-10C-01D-A35G-08 g.chrX:79999587T>C c.757A>G c.(757-759)Act>Gct p.T253A PRAD 23 79942411 79942411 + Missense_Mutation SNP C C A TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 g.chrX:79942411C>A c.3956G>T c.(3955-3957)cGt>cTt p.R1319L PRAD 23 79945312 79945312 + Silent SNP A A G TCGA-ZG-A9L6-01A-11D-A41K-08 TCGA-ZG-A9L6-10A-01D-A41N-08 g.chrX:79945312A>G c.3762T>C c.(3760-3762)taT>taC p.Y1254Y PRAD 23 79984395 79984395 + Missense_Mutation SNP C C A TCGA-YL-A8HJ-01A-11D-A364-08 TCGA-YL-A8HJ-10A-01D-A362-08 g.chrX:79984395C>A c.1242G>T c.(1240-1242)ttG>ttT p.L414F READ 23 79945323 79945323 + Missense_Mutation SNP G G C TCGA-AG-3901-01A-01W-1073-09 TCGA-AG-3901-10A-01W-1073-09 g.chrX:79945323G>C c.3751C>G c.(3751-3753)Ctg>Gtg p.L1251V READ 23 79945493 79945493 + Missense_Mutation SNP A A G TCGA-AG-3742-01A-11D-1657-10 TCGA-AG-3742-11A-01D-1657-10 g.chrX:79945493A>G c.3701T>C c.(3700-3702)gTa>gCa p.V1234A READ 23 79948460 79948460 + Missense_Mutation SNP G G T TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chrX:79948460G>T c.3242C>A c.(3241-3243)tCt>tAt p.S1081Y READ 23 79984252 79984252 + Splice_Site SNP G G T TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chrX:79984252G>T c.1385C>A c.(1384-1386)tCt>tAt p.S462Y READ 23 79999689 79999689 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chrX:79999689G>A c.655C>T c.(655-657)Cgt>Tgt p.R219C READ 23 80001174 80001174 + Missense_Mutation SNP A A G TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chrX:80001174A>G c.485T>C c.(484-486)tTc>tCc p.F162S SARC 23 79989633 79989633 + Missense_Mutation SNP T T G TCGA-DX-AB2F-01A-11D-A387-09 TCGA-DX-AB2F-10A-01D-A38A-09 g.chrX:79989633T>G c.1070A>C c.(1069-1071)gAa>gCa p.E357A SARC 23 80064059 80064059 + Missense_Mutation SNP G G C TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 g.chrX:80064059G>C c.159C>G c.(157-159)caC>caG p.H53Q SKCM 23 79932388 79932388 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 g.chrX:79932388C>T c.5129G>A c.(5128-5130)gGg>gAg p.G1710E SKCM 23 79932528 79932528 + Silent SNP T T C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chrX:79932528T>C c.4989A>G c.(4987-4989)agA>agG p.R1663R SKCM 23 79932599 79932599 + Missense_Mutation SNP G G A TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chrX:79932599G>A c.4918C>T c.(4918-4920)Cat>Tat p.H1640Y SKCM 23 79932655 79932655 + Missense_Mutation SNP G G A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 g.chrX:79932655G>A c.4862C>T c.(4861-4863)tCt>tTt p.S1621F SKCM 23 79936924 79936924 + Missense_Mutation SNP A A G TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 g.chrX:79936924A>G c.4570T>C c.(4570-4572)Ttc>Ctc p.F1524L SKCM 23 79936966 79936966 + Silent SNP G G A TCGA-D3-A5GR-06A-11D-A27K-08 TCGA-D3-A5GR-10A-01D-A27N-08 g.chrX:79936966G>A c.4528C>T c.(4528-4530)Cta>Tta p.L1510L SKCM 23 79937548 79937548 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 g.chrX:79937548G>A c.4443C>T c.(4441-4443)gaC>gaT p.D1481D SKCM 23 79939559 79939559 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chrX:79939559G>A c.4183C>T c.(4183-4185)Cgc>Tgc p.R1395C SKCM 23 79939655 79939655 + Nonsense_Mutation SNP G G A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 g.chrX:79939655G>A c.4087C>T c.(4087-4089)Caa>Taa p.Q1363* SKCM 23 79942376 79942376 + Missense_Mutation SNP G G A TCGA-EE-A182-06A-11D-A196-08 TCGA-EE-A182-10A-01D-A198-08 g.chrX:79942376G>A c.3991C>T c.(3991-3993)Ctt>Ttt p.L1331F SKCM 23 79942453 79942453 + Missense_Mutation SNP C C A TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chrX:79942453C>A c.3914G>T c.(3913-3915)tGg>tTg p.W1305L SKCM 23 79943581 79943581 + Missense_Mutation SNP G G A TCGA-EE-A182-06A-11D-A196-08 TCGA-EE-A182-10A-01D-A198-08 g.chrX:79943581G>A c.3851C>T c.(3850-3852)tCa>tTa p.S1284L SKCM 23 79945341 79945341 + Nonsense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 g.chrX:79945341G>A c.3733C>T c.(3733-3735)Cag>Tag p.Q1245* SKCM 23 79945479 79945479 + Missense_Mutation SNP G G A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 g.chrX:79945479G>A c.3715C>T c.(3715-3717)Ctt>Ttt p.L1239F SKCM 23 79947370 79947370 + Missense_Mutation SNP C C T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 g.chrX:79947370C>T c.3433G>A c.(3433-3435)Gaa>Aaa p.E1145K SKCM 23 79947382 79947382 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 g.chrX:79947382G>A c.3421C>T c.(3421-3423)Cat>Tat p.H1141Y SKCM 23 79947391 79947391 + Missense_Mutation SNP A A C TCGA-ER-A19J-06A-11D-A196-08 TCGA-ER-A19J-10A-01D-A198-08 g.chrX:79947391A>C c.3412T>G c.(3412-3414)Tgg>Ggg p.W1138G SKCM 23 79947403 79947403 + Nonsense_Mutation SNP G G A TCGA-DA-A1IA-06A-11D-A196-08 TCGA-DA-A1IA-10A-01D-A198-08 g.chrX:79947403G>A c.3400C>T c.(3400-3402)Cag>Tag p.Q1134* SKCM 23 79948455 79948455 + Nonsense_Mutation SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chrX:79948455G>A c.3247C>T c.(3247-3249)Cag>Tag p.Q1083* SKCM 23 79960305 79960305 + Missense_Mutation SNP C C T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 g.chrX:79960305C>T c.2593G>A c.(2593-2595)Gga>Aga p.G865R SKCM 23 79964984 79964984 + Missense_Mutation SNP A A T TCGA-EE-A182-06A-11D-A196-08 TCGA-EE-A182-10A-01D-A198-08 g.chrX:79964984A>T c.2418T>A c.(2416-2418)aaT>aaA p.N806K SKCM 23 79973140 79973140 + Silent SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chrX:79973140G>A c.2163C>T c.(2161-2163)gcC>gcT p.A721A SKCM 23 79973141 79973141 + Missense_Mutation SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chrX:79973141G>A c.2162C>T c.(2161-2163)gCc>gTc p.A721V SKCM 23 79978134 79978134 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 g.chrX:79978134G>A c.1803C>T c.(1801-1803)ttC>ttT p.F601F SKCM 23 79978253 79978253 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 g.chrX:79978253G>A c.1684C>T c.(1684-1686)Cgt>Tgt p.R562C SKCM 23 79980482 79980482 + Missense_Mutation SNP A A T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 g.chrX:79980482A>T c.1471T>A c.(1471-1473)Ttt>Att p.F491I SKCM 23 79980524 79980524 + Missense_Mutation SNP C C T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 g.chrX:79980524C>T c.1429G>A c.(1429-1431)Gat>Aat p.D477N SKCM 23 79984278 79984278 + Silent SNP G G A TCGA-GN-A268-06A-11D-A196-08 TCGA-GN-A268-10A-01D-A198-08 g.chrX:79984278G>A c.1359C>T c.(1357-1359)atC>atT p.I453I SKCM 23 79985494 79985494 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 g.chrX:79985494C>T c.1153G>A c.(1153-1155)Gat>Aat p.D385N

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US X 79932201 79932201 single base substitution C G downstream_gene_variant BLCA-US X 79932201 79932201 single base substitution C G missense_variant E1772D 5316G>C BLCA-US X 79936980 79936980 single base substitution C G exon_variant BLCA-US X 79936980 79936980 single base substitution C G missense_variant G1505A 4514G>C BOCA-FR X 80051078 80051078 single base substitution C A intron_variant BRCA-EU X 79921439 79921439 single base substitution G A downstream_gene_variant BRCA-EU X 79921458 79921458 single base substitution G A downstream_gene_variant BRCA-EU X 79921574 79921574 single base substitution A C downstream_gene_variant BRCA-EU X 79922237 79922237 single base substitution C G downstream_gene_variant BRCA-EU X 79922262 79922262 single base substitution T G downstream_gene_variant BRCA-EU X 79922333 79922333 single base substitution C A downstream_gene_variant BRCA-EU X 79922981 79922981 single base substitution C T downstream_gene_variant BRCA-EU X 79923018 79923018 single base substitution G C downstream_gene_variant BRCA-EU X 79923616 79923616 single base substitution C G downstream_gene_variant BRCA-EU X 79924092 79924092 single base substitution T A downstream_gene_variant BRCA-EU X 79926083 79926083 single base substitution A C downstream_gene_variant BRCA-EU X 79926360 79926360 single base substitution C G 3_prime_UTR_variant BRCA-EU X 79926506 79926506 single base substitution T C 3_prime_UTR_variant BRCA-EU X 79927076 79927076 single base substitution A T 3_prime_UTR_variant BRCA-EU X 79928528 79928528 single base substitution G A 3_prime_UTR_variant BRCA-EU X 79928528 79928528 single base substitution G A downstream_gene_variant BRCA-EU X 79929783 79929783 single base substitution G A 3_prime_UTR_variant BRCA-EU X 79929783 79929783 single base substitution G A downstream_gene_variant BRCA-EU X 79931184 79931184 single base substitution G A 3_prime_UTR_variant BRCA-EU X 79931184 79931184 single base substitution G A downstream_gene_variant BRCA-EU X 79931707 79931707 single base substitution G T 3_prime_UTR_variant BRCA-EU X 79931707 79931707 single base substitution G T downstream_gene_variant BRCA-EU X 79932385 79932385 single base substitution C G downstream_gene_variant BRCA-EU X 79932385 79932385 single base substitution C G missense_variant R1711T 5132G>C BRCA-EU X 79933028 79933028 single base substitution A T intron_variant BRCA-EU X 79933050 79933050 single base substitution G A intron_variant BRCA-EU X 79933418 79933418 single base substitution A C intron_variant BRCA-EU X 79933494 79933494 single base substitution G A intron_variant BRCA-EU X 79933988 79933988 single base substitution G T intron_variant BRCA-EU X 79934057 79934057 single base substitution T C intron_variant BRCA-EU X 79934324 79934324 single base substitution C A intron_variant BRCA-EU X 79934656 79934656 single base substitution C T intron_variant BRCA-EU X 79935276 79935276 single base substitution A T intron_variant BRCA-EU X 79935818 79935818 single base substitution T A intron_variant BRCA-EU X 79936452 79936452 single base substitution C T intron_variant BRCA-EU X 79937044 79937044 single base substitution C T intron_variant BRCA-EU X 79938234 79938234 single base substitution T C intron_variant BRCA-EU X 79940425 79940425 single base substitution C A intron_variant BRCA-EU X 79941925 79941925 single base substitution T A intron_variant BRCA-EU X 79942010 79942010 single base substitution A G intron_variant BRCA-EU X 79943033 79943033 single base substitution G A intron_variant BRCA-EU X 79943093 79943093 single base substitution C G intron_variant BRCA-EU X 79943330 79943330 single base substitution T C intron_variant BRCA-EU X 79943587 79943587 deletion of <=200bp C - exon_variant BRCA-EU X 79943587 79943587 deletion of <=200bp C - frameshift_variant G1282 BRCA-EU X 79946037 79946037 single base substitution A G intron_variant BRCA-EU X 79946119 79946119 single base substitution C T intron_variant BRCA-EU X 79946538 79946538 deletion of <=200bp A - intron_variant BRCA-EU X 79946538 79946538 insertion of <=200bp - A intron_variant BRCA-EU X 79946881 79946881 single base substitution A G intron_variant BRCA-EU X 79947516 79947516 single base substitution A G intron_variant BRCA-EU X 79948642 79948642 single base substitution A T intron_variant BRCA-EU X 79948961 79948961 single base substitution C G intron_variant BRCA-EU X 79949192 79949192 single base substitution T C intron_variant BRCA-EU X 79949230 79949230 single base substitution G T intron_variant BRCA-EU X 79950322 79950322 single base substitution G A intron_variant BRCA-EU X 79950698 79950698 single base substitution A T intron_variant BRCA-EU X 79952105 79952105 single base substitution G C intron_variant BRCA-EU X 79952903 79952903 single base substitution C T intron_variant BRCA-EU X 79953091 79953091 single base substitution C A intron_variant BRCA-EU X 79953697 79953697 single base substitution G T intron_variant BRCA-EU X 79955525 79955525 single base substitution C A exon_variant BRCA-EU X 79955525 79955525 single base substitution C A synonymous_variant R958R 2874G>T BRCA-EU X 79957961 79957961 single base substitution A G intron_variant BRCA-EU X 79958299 79958299 single base substitution G A intron_variant BRCA-EU X 79958625 79958625 deletion of <=200bp T - intron_variant BRCA-EU X 79958684 79958684 deletion of <=200bp A - intron_variant BRCA-EU X 79959018 79959018 single base substitution T C exon_variant BRCA-EU X 79959018 79959018 single base substitution T C missense_variant I932M 2796A>G BRCA-EU X 79959709 79959709 single base substitution C G intron_variant BRCA-EU X 79959835 79959835 single base substitution G T intron_variant BRCA-EU X 79960079 79960079 single base substitution A G intron_variant BRCA-EU X 79960183 79960183 single base substitution T A exon_variant BRCA-EU X 79960183 79960183 single base substitution T A missense_variant R905S 2715A>T BRCA-EU X 79960280 79960280 single base substitution C G exon_variant BRCA-EU X 79960280 79960280 single base substitution C G missense_variant R873T 2618G>C BRCA-EU X 79960406 79960406 single base substitution A C intron_variant BRCA-EU X 79960849 79960849 single base substitution C A intron_variant BRCA-EU X 79960891 79960891 single base substitution T A intron_variant BRCA-EU X 79961236 79961236 single base substitution C G intron_variant BRCA-EU X 79961441 79961441 single base substitution A G intron_variant BRCA-EU X 79961963 79961963 single base substitution A T intron_variant BRCA-EU X 79962221 79962221 single base substitution A G intron_variant BRCA-EU X 79962786 79962786 single base substitution C T intron_variant BRCA-EU X 79963744 79963744 single base substitution A C intron_variant BRCA-EU X 79963797 79963797 single base substitution A G intron_variant BRCA-EU X 79964369 79964369 single base substitution C T intron_variant BRCA-EU X 79964915 79964915 insertion of <=200bp - TA intron_variant BRCA-EU X 79965595 79965595 insertion of <=200bp - A intron_variant BRCA-EU X 79965693 79965693 single base substitution C T intron_variant BRCA-EU X 79966443 79966443 insertion of <=200bp - A intron_variant BRCA-EU X 79967121 79967121 single base substitution G A intron_variant BRCA-EU X 79967210 79967210 single base substitution G C intron_variant BRCA-EU X 79967292 79967292 single base substitution T C intron_variant BRCA-EU X 79967875 79967875 single base substitution C G downstream_gene_variant BRCA-EU X 79967875 79967875 single base substitution C G intron_variant BRCA-EU X 79968775 79968775 single base substitution A T downstream_gene_variant BRCA-EU X 79968775 79968775 single base substitution A T intron_variant BRCA-EU X 79969847 79969847 single base substitution C G downstream_gene_variant BRCA-EU X 79969847 79969847 single base substitution C G intron_variant BRCA-EU X 79970241 79970241 single base substitution C G downstream_gene_variant BRCA-EU X 79970241 79970241 single base substitution C G intron_variant BRCA-EU X 79970817 79970817 single base substitution T A downstream_gene_variant BRCA-EU X 79970817 79970817 single base substitution T A intron_variant BRCA-EU X 79972643 79972643 single base substitution G A exon_variant BRCA-EU X 79972643 79972643 single base substitution G A intron_variant BRCA-EU X 79973720 79973720 single base substitution C T intron_variant BRCA-EU X 79973872 79973872 single base substitution A T intron_variant BRCA-EU X 79974045 79974045 single base substitution G C intron_variant BRCA-EU X 79974061 79974061 single base substitution C G intron_variant BRCA-EU X 79974270 79974270 single base substitution A C intron_variant BRCA-EU X 79974826 79974826 single base substitution A G intron_variant BRCA-EU X 79975435 79975435 single base substitution C T intron_variant BRCA-EU X 79975435 79975435 single base substitution C T upstream_gene_variant BRCA-EU X 79975703 79975703 deletion of <=200bp A - intron_variant BRCA-EU X 79975703 79975703 deletion of <=200bp A - upstream_gene_variant BRCA-EU X 79975856 79975856 single base substitution G A intron_variant BRCA-EU X 79975856 79975856 single base substitution G A upstream_gene_variant BRCA-EU X 79975952 79975952 single base substitution A G intron_variant BRCA-EU X 79975952 79975952 single base substitution A G upstream_gene_variant BRCA-EU X 79976026 79976026 single base substitution T C intron_variant BRCA-EU X 79976026 79976026 single base substitution T C upstream_gene_variant BRCA-EU X 79976175 79976175 single base substitution G A intron_variant BRCA-EU X 79976175 79976175 single base substitution G A upstream_gene_variant BRCA-EU X 79976862 79976862 single base substitution T C intron_variant BRCA-EU X 79976862 79976862 single base substitution T C upstream_gene_variant BRCA-EU X 79978856 79978857 deletion of <=200bp AT - intron_variant BRCA-EU X 79978856 79978857 deletion of <=200bp AT - upstream_gene_variant BRCA-EU X 79979104 79979104 single base substitution G T intron_variant BRCA-EU X 79979104 79979104 single base substitution G T upstream_gene_variant BRCA-EU X 79980603 79980603 single base substitution C T intron_variant BRCA-EU X 79980603 79980603 single base substitution C T upstream_gene_variant BRCA-EU X 79981485 79981485 single base substitution T C intron_variant BRCA-EU X 79981485 79981485 single base substitution T C upstream_gene_variant BRCA-EU X 79981527 79981527 single base substitution T C intron_variant BRCA-EU X 79981527 79981527 single base substitution T C upstream_gene_variant BRCA-EU X 79981955 79981955 single base substitution G T intron_variant BRCA-EU X 79981955 79981955 single base substitution G T upstream_gene_variant BRCA-EU X 79982102 79982102 deletion of <=200bp A - intron_variant BRCA-EU X 79982102 79982102 deletion of <=200bp A - upstream_gene_variant BRCA-EU X 79982595 79982595 single base substitution C T intron_variant BRCA-EU X 79982595 79982595 single base substitution C T upstream_gene_variant BRCA-EU X 79983022 79983022 single base substitution A T intron_variant BRCA-EU X 79983022 79983022 single base substitution A T upstream_gene_variant BRCA-EU X 79983154 79983154 single base substitution A C intron_variant BRCA-EU X 79983425 79983425 single base substitution G T intron_variant BRCA-EU X 79983713 79983713 single base substitution C A downstream_gene_variant BRCA-EU X 79983713 79983713 single base substitution C A intron_variant BRCA-EU X 79983949 79983949 deletion of <=200bp A - downstream_gene_variant BRCA-EU X 79983949 79983949 deletion of <=200bp A - intron_variant BRCA-EU X 79984072 79984072 single base substitution G A downstream_gene_variant BRCA-EU X 79984072 79984072 single base substitution G A intron_variant BRCA-EU X 79985163 79985163 single base substitution A G downstream_gene_variant BRCA-EU X 79985163 79985163 single base substitution A G intron_variant BRCA-EU X 79985492 79985492 single base substitution A G downstream_gene_variant BRCA-EU X 79985492 79985492 single base substitution A G synonymous_variant D385D 1155T>C BRCA-EU X 79985726 79985726 single base substitution C G downstream_gene_variant BRCA-EU X 79985726 79985726 single base substitution C G intron_variant BRCA-EU X 79986111 79986112 deletion of <=200bp TG - downstream_gene_variant BRCA-EU X 79986111 79986112 deletion of <=200bp TG - intron_variant BRCA-EU X 79988083 79988083 single base substitution G A downstream_gene_variant BRCA-EU X 79988083 79988083 single base substitution G A intron_variant BRCA-EU X 79988522 79988522 single base substitution G A downstream_gene_variant BRCA-EU X 79988522 79988522 single base substitution G A intron_variant BRCA-EU X 79988912 79988912 single base substitution T C exon_variant BRCA-EU X 79988912 79988912 single base substitution T C intron_variant BRCA-EU X 79989646 79989646 single base substitution C T missense_variant E353K 1057G>A BRCA-EU X 79989646 79989646 single base substitution C T upstream_gene_variant BRCA-EU X 79990674 79990674 single base substitution C G missense_variant E313Q 937G>C BRCA-EU X 79990674 79990674 single base substitution C G upstream_gene_variant BRCA-EU X 79990691 79990691 single base substitution C T missense_variant R307H 920G>A BRCA-EU X 79990691 79990691 single base substitution C T upstream_gene_variant BRCA-EU X 79991001 79991001 single base substitution T C intron_variant BRCA-EU X 79991001 79991001 single base substitution T C upstream_gene_variant BRCA-EU X 79991845 79991845 single base substitution T C intron_variant BRCA-EU X 79991845 79991845 single base substitution T C upstream_gene_variant BRCA-EU X 79992134 79992134 single base substitution A G intron_variant BRCA-EU X 79992134 79992134 single base substitution A G upstream_gene_variant BRCA-EU X 79992862 79992862 single base substitution G A intron_variant BRCA-EU X 79992862 79992862 single base substitution G A upstream_gene_variant BRCA-EU X 79993758 79993758 single base substitution G A intron_variant BRCA-EU X 79993758 79993758 single base substitution G A upstream_gene_variant BRCA-EU X 79994449 79994449 single base substitution C T downstream_gene_variant BRCA-EU X 79994449 79994449 single base substitution C T intron_variant BRCA-EU X 79994449 79994449 single base substitution C T upstream_gene_variant BRCA-EU X 79994817 79994817 single base substitution G A downstream_gene_variant BRCA-EU X 79994817 79994817 single base substitution G A intron_variant BRCA-EU X 79996129 79996129 insertion of <=200bp - TT downstream_gene_variant BRCA-EU X 79996129 79996129 insertion of <=200bp - TT intron_variant BRCA-EU X 79996187 79996187 single base substitution G A downstream_gene_variant BRCA-EU X 79996187 79996187 single base substitution G A intron_variant BRCA-EU X 79996441 79996441 single base substitution A G downstream_gene_variant BRCA-EU X 79996441 79996441 single base substitution A G intron_variant BRCA-EU X 79996546 79996546 single base substitution C T downstream_gene_variant BRCA-EU X 79996546 79996546 single base substitution C T intron_variant BRCA-EU X 79997249 79997249 single base substitution C T downstream_gene_variant BRCA-EU X 79997249 79997249 single base substitution C T intron_variant BRCA-EU X 79997597 79997597 single base substitution G T downstream_gene_variant BRCA-EU X 79997597 79997597 single base substitution G T intron_variant BRCA-EU X 79999689 79999689 single base substitution G A exon_variant BRCA-EU X 79999689 79999689 single base substitution G A missense_variant R219C 655C>T BRCA-EU X 80000291 80000291 single base substitution A G intron_variant BRCA-EU X 80000635 80000635 deletion of <=200bp A - intron_variant BRCA-EU X 80001931 80001931 deletion of <=200bp A - intron_variant BRCA-EU X 80001953 80001953 single base substitution A G intron_variant BRCA-EU X 80002300 80002300 single base substitution G C intron_variant BRCA-EU X 80002503 80002503 single base substitution G C intron_variant BRCA-EU X 80002898 80002898 single base substitution G A intron_variant BRCA-EU X 80002984 80002984 single base substitution A G intron_variant BRCA-EU X 80003011 80003011 single base substitution A C intron_variant BRCA-EU X 80003023 80003023 single base substitution G T intron_variant BRCA-EU X 80003036 80003036 single base substitution G A intron_variant BRCA-EU X 80003248 80003248 single base substitution T C intron_variant BRCA-EU X 80003326 80003326 single base substitution T C intron_variant BRCA-EU X 80005505 80005505 single base substitution C T intron_variant BRCA-EU X 80005920 80005920 single base substitution G A intron_variant BRCA-EU X 80006707 80006707 single base substitution A G intron_variant BRCA-EU X 80007403 80007403 deletion of <=200bp T - intron_variant BRCA-EU X 80007789 80007789 single base substitution C G intron_variant BRCA-EU X 80007899 80007899 single base substitution C A intron_variant BRCA-EU X 80008794 80008794 single base substitution G T intron_variant BRCA-EU X 80010144 80010144 single base substitution C G intron_variant BRCA-EU X 80010672 80010672 single base substitution C T intron_variant BRCA-EU X 80011413 80011413 single base substitution A G intron_variant BRCA-EU X 80011567 80011567 single base substitution G C intron_variant BRCA-EU X 80011945 80011945 single base substitution G A intron_variant BRCA-EU X 80012220 80012220 single base substitution A T intron_variant BRCA-EU X 80012739 80012739 single base substitution C A intron_variant BRCA-EU X 80015420 80015420 single base substitution C T intron_variant BRCA-EU X 80015475 80015475 single base substitution T A intron_variant BRCA-EU X 80015656 80015656 single base substitution C G intron_variant BRCA-EU X 80015794 80015794 single base substitution G C intron_variant BRCA-EU X 80015875 80015875 single base substitution C G intron_variant BRCA-EU X 80016293 80016293 deletion of <=200bp A - intron_variant BRCA-EU X 80016635 80016644 deletion of <=200bp AATAACAATG - intron_variant BRCA-EU X 80017098 80017098 single base substitution G T intron_variant BRCA-EU X 80017407 80017407 deletion of <=200bp A - intron_variant BRCA-EU X 80017692 80017692 single base substitution A T intron_variant BRCA-EU X 80017864 80017864 single base substitution G A intron_variant BRCA-EU X 80017942 80017942 single base substitution A T intron_variant BRCA-EU X 80019114 80019114 deletion of <=200bp A - intron_variant BRCA-EU X 80019220 80019220 insertion of <=200bp - A intron_variant BRCA-EU X 80019432 80019432 single base substitution G T intron_variant BRCA-EU X 80019756 80019756 single base substitution C T intron_variant BRCA-EU X 80020201 80020201 single base substitution T C intron_variant BRCA-EU X 80022973 80022973 single base substitution A G intron_variant BRCA-EU X 80024407 80024407 insertion of <=200bp - A intron_variant BRCA-EU X 80024476 80024476 single base substitution G C intron_variant BRCA-EU X 80024562 80024562 single base substitution C A intron_variant BRCA-EU X 80024566 80024566 single base substitution T A intron_variant BRCA-EU X 80024802 80024802 single base substitution C A intron_variant BRCA-EU X 80024817 80024817 single base substitution C T intron_variant BRCA-EU X 80025519 80025519 single base substitution C T intron_variant BRCA-EU X 80025539 80025539 single base substitution G A intron_variant BRCA-EU X 80026207 80026207 single base substitution C A intron_variant BRCA-EU X 80026383 80026383 single base substitution G A intron_variant BRCA-EU X 80026462 80026462 single base substitution C A intron_variant BRCA-EU X 80026530 80026530 single base substitution A G intron_variant BRCA-EU X 80026663 80026663 single base substitution G T intron_variant BRCA-EU X 80026925 80026925 single base substitution G C intron_variant BRCA-EU X 80027625 80027625 single base substitution G A intron_variant BRCA-EU X 80028127 80028127 single base substitution T C intron_variant BRCA-EU X 80028185 80028185 deletion of <=200bp A - intron_variant BRCA-EU X 80029201 80029201 single base substitution T C intron_variant BRCA-EU X 80029633 80029633 single base substitution G A intron_variant BRCA-EU X 80031127 80031127 deletion of <=200bp T - intron_variant BRCA-EU X 80032018 80032018 single base substitution C T intron_variant BRCA-EU X 80032643 80032643 insertion of <=200bp - C intron_variant BRCA-EU X 80033505 80033505 single base substitution A G intron_variant BRCA-EU X 80034246 80034246 single base substitution C G intron_variant BRCA-EU X 80034296 80034296 single base substitution G C intron_variant BRCA-EU X 80034364 80034364 single base substitution G A intron_variant BRCA-EU X 80034528 80034534 deletion of <=200bp CGTGGTC - intron_variant BRCA-EU X 80035620 80035620 single base substitution T A intron_variant BRCA-EU X 80036223 80036223 single base substitution G C intron_variant BRCA-EU X 80037140 80037140 single base substitution T C intron_variant BRCA-EU X 80038238 80038238 single base substitution A T intron_variant BRCA-EU X 80038864 80038864 single base substitution G T intron_variant BRCA-EU X 80039242 80039242 insertion of <=200bp - A intron_variant BRCA-EU X 80039348 80039348 single base substitution C A intron_variant BRCA-EU X 80039466 80039466 deletion of <=200bp A - intron_variant BRCA-EU X 80039480 80039480 single base substitution A T intron_variant BRCA-EU X 80040720 80040720 single base substitution T C intron_variant BRCA-EU X 80041353 80041353 single base substitution C T intron_variant BRCA-EU X 80041839 80041839 single base substitution G T intron_variant BRCA-EU X 80042519 80042519 single base substitution A G intron_variant BRCA-EU X 80042708 80042708 single base substitution A T intron_variant BRCA-EU X 80044046 80044046 single base substitution T A intron_variant BRCA-EU X 80044847 80044847 single base substitution A G intron_variant BRCA-EU X 80046133 80046133 insertion of <=200bp - A intron_variant BRCA-EU X 80046697 80046697 single base substitution C T intron_variant BRCA-EU X 80048364 80048364 single base substitution T C intron_variant BRCA-EU X 80048713 80048713 single base substitution A G intron_variant BRCA-EU X 80049116 80049116 single base substitution C A splice_region_variant BRCA-EU X 80049501 80049501 single base substitution A C intron_variant BRCA-EU X 80049859 80049859 single base substitution G A intron_variant BRCA-EU X 80050384 80050384 single base substitution C G intron_variant BRCA-EU X 80050851 80050851 single base substitution T C intron_variant BRCA-EU X 80050853 80050853 single base substitution C T intron_variant BRCA-EU X 80051399 80051399 single base substitution C A intron_variant BRCA-EU X 80051508 80051508 insertion of <=200bp - T intron_variant BRCA-EU X 80051508 80051508 single base substitution T G intron_variant BRCA-EU X 80051644 80051644 insertion of <=200bp - C intron_variant BRCA-EU X 80051946 80051946 single base substitution G C intron_variant BRCA-EU X 80052328 80052328 single base substitution G A intron_variant BRCA-EU X 80053467 80053467 single base substitution G A intron_variant BRCA-EU X 80054359 80054359 single base substitution T C intron_variant BRCA-EU X 80054387 80054387 single base substitution C G intron_variant BRCA-EU X 80054564 80054564 single base substitution C A intron_variant BRCA-EU X 80055069 80055069 single base substitution G C intron_variant BRCA-EU X 80055925 80055925 single base substitution C A intron_variant BRCA-EU X 80057014 80057014 single base substitution C T intron_variant BRCA-EU X 80057085 80057085 single base substitution A G intron_variant BRCA-EU X 80058879 80058879 single base substitution C G intron_variant BRCA-EU X 80059047 80059047 single base substitution G A intron_variant BRCA-EU X 80059683 80059683 single base substitution A T intron_variant BRCA-EU X 80060434 80060434 single base substitution G A intron_variant BRCA-EU X 80060476 80060476 single base substitution C T intron_variant BRCA-EU X 80060520 80060520 single base substitution G C intron_variant BRCA-EU X 80060983 80060983 single base substitution C A intron_variant BRCA-EU X 80061306 80061306 single base substitution T C intron_variant BRCA-EU X 80061382 80061382 single base substitution C T intron_variant BRCA-EU X 80061853 80061853 deletion of <=200bp A - intron_variant BRCA-EU X 80062034 80062034 single base substitution C G intron_variant BRCA-EU X 80062088 80062088 single base substitution C T intron_variant BRCA-EU X 80063121 80063121 deletion of <=200bp C - intron_variant BRCA-EU X 80063366 80063366 single base substitution G A intron_variant BRCA-EU X 80064089 80064089 single base substitution C T exon_variant BRCA-EU X 80064089 80064089 single base substitution C T synonymous_variant P43P 129G>A BRCA-EU X 80064494 80064494 single base substitution C A intron_variant BRCA-EU X 80064523 80064523 single base substitution C T exon_variant BRCA-EU X 80064523 80064523 single base substitution C T missense_variant E37K 109G>A BRCA-EU X 80065533 80065533 single base substitution G A upstream_gene_variant BRCA-EU X 80065822 80065822 single base substitution G T upstream_gene_variant BRCA-EU X 80067700 80067700 single base substitution G T upstream_gene_variant BRCA-EU X 80067744 80067744 single base substitution G T upstream_gene_variant BRCA-FR X 79922333 79922333 single base substitution C A downstream_gene_variant BRCA-FR X 79929783 79929783 single base substitution G A 3_prime_UTR_variant BRCA-FR X 79929783 79929783 single base substitution G A downstream_gene_variant BRCA-FR X 79931707 79931707 single base substitution G T 3_prime_UTR_variant BRCA-FR X 79931707 79931707 single base substitution G T downstream_gene_variant BRCA-FR X 79933494 79933494 single base substitution G A intron_variant BRCA-FR X 79934656 79934656 single base substitution C T intron_variant BRCA-FR X 79940425 79940425 single base substitution C A intron_variant BRCA-FR X 79941339 79941339 single base substitution T G intron_variant BRCA-FR X 79942010 79942010 single base substitution A G intron_variant BRCA-FR X 79945930 79945930 single base substitution A G intron_variant BRCA-FR X 79946037 79946037 single base substitution A G intron_variant BRCA-FR X 79948961 79948961 single base substitution C G intron_variant BRCA-FR X 79952903 79952903 single base substitution C T intron_variant BRCA-FR X 79953091 79953091 single base substitution C A intron_variant BRCA-FR X 79960849 79960849 single base substitution C A intron_variant BRCA-FR X 79962786 79962786 single base substitution C T intron_variant BRCA-FR X 79965693 79965693 single base substitution C T intron_variant BRCA-FR X 79966639 79966639 single base substitution T C intron_variant BRCA-FR X 79972643 79972643 single base substitution G A exon_variant BRCA-FR X 79972643 79972643 single base substitution G A intron_variant BRCA-FR X 79985633 79985633 single base substitution T C downstream_gene_variant BRCA-FR X 79985633 79985633 single base substitution T C intron_variant BRCA-FR X 79988912 79988912 single base substitution T C exon_variant BRCA-FR X 79988912 79988912 single base substitution T C intron_variant BRCA-FR X 79991290 79991290 single base substitution G A intron_variant BRCA-FR X 79991290 79991290 single base substitution G A upstream_gene_variant BRCA-FR X 79996546 79996546 single base substitution C T downstream_gene_variant BRCA-FR X 79996546 79996546 single base substitution C T intron_variant BRCA-FR X 79997597 79997597 single base substitution G T downstream_gene_variant BRCA-FR X 79997597 79997597 single base substitution G T intron_variant BRCA-FR X 80002300 80002300 single base substitution G C intron_variant BRCA-FR X 80002503 80002503 single base substitution G C intron_variant BRCA-FR X 80003023 80003023 single base substitution G T intron_variant BRCA-FR X 80007899 80007899 single base substitution C A intron_variant BRCA-FR X 80008075 80008075 single base substitution A T intron_variant BRCA-FR X 80008794 80008794 single base substitution G T intron_variant BRCA-FR X 80017864 80017864 single base substitution G A intron_variant BRCA-FR X 80019756 80019756 single base substitution C T intron_variant BRCA-FR X 80023802 80023802 single base substitution G A intron_variant BRCA-FR X 80025519 80025519 single base substitution C T intron_variant BRCA-FR X 80026383 80026383 single base substitution G A intron_variant BRCA-FR X 80026925 80026925 single base substitution G C intron_variant BRCA-FR X 80032316 80032316 single base substitution C T intron_variant BRCA-FR X 80034364 80034364 single base substitution G A intron_variant BRCA-FR X 80035974 80035974 single base substitution A T intron_variant BRCA-FR X 80036223 80036223 single base substitution G C intron_variant BRCA-FR X 80042519 80042519 single base substitution A G intron_variant BRCA-FR X 80055069 80055069 single base substitution G C intron_variant BRCA-FR X 80057014 80057014 single base substitution C T intron_variant BRCA-FR X 80064262 80064262 single base substitution G C intron_variant BRCA-FR X 80064264 80064264 single base substitution G A intron_variant BRCA-KR X 79932894 79932894 single base substitution A G intron_variant BRCA-UK X 79932343 79932343 single base substitution C T downstream_gene_variant BRCA-UK X 79932343 79932343 single base substitution C T missense_variant R1725Q 5174G>A BRCA-UK X 79941925 79941925 single base substitution T A intron_variant BRCA-UK X 79947400 79947400 single base substitution C G exon_variant BRCA-UK X 79947400 79947400 single base substitution C G missense_variant E1135Q 3403G>C BRCA-UK X 79949192 79949192 single base substitution T C intron_variant BRCA-UK X 80003521 80003521 single base substitution T A intron_variant BRCA-UK X 80003549 80003549 single base substitution T C intron_variant BRCA-UK X 80026462 80026462 single base substitution C A intron_variant BRCA-UK X 80031127 80031127 deletion of <=200bp T - intron_variant BRCA-UK X 80048364 80048364 single base substitution T C intron_variant BRCA-UK X 80065822 80065822 single base substitution G T upstream_gene_variant BRCA-UK X 80067700 80067700 single base substitution G T upstream_gene_variant BRCA-US X 79932158 79932158 single base substitution T C downstream_gene_variant BRCA-US X 79932158 79932158 single base substitution T C missense_variant K1787E 5359A>G BRCA-US X 79932203 79932203 single base substitution C T downstream_gene_variant BRCA-US X 79932203 79932203 single base substitution C T missense_variant E1772K 5314G>A BRCA-US X 79932420 79932420 single base substitution T A downstream_gene_variant BRCA-US X 79932420 79932420 single base substitution T A missense_variant R1699S 5097A>T BRCA-US X 79939568 79939568 single base substitution T C intron_variant BRCA-US X 79939568 79939568 single base substitution T C missense_variant K1392E 4174A>G BRCA-US X 79947371 79947371 single base substitution G A exon_variant BRCA-US X 79947371 79947371 single base substitution G A synonymous_variant D1144D 3432C>T BRCA-US X 79948515 79948515 single base substitution A C exon_variant BRCA-US X 79948515 79948515 single base substitution A C missense_variant W1063G 3187T>G BRCA-US X 79951434 79951434 single base substitution C T exon_variant BRCA-US X 79951434 79951434 single base substitution C T missense_variant E1042K 3124G>A BRCA-US X 79959038 79959038 single base substitution G A exon_variant BRCA-US X 79959038 79959038 single base substitution G A stop_gained Q926* 2776C>T BRCA-US X 79971733 79971733 single base substitution G A downstream_gene_variant BRCA-US X 79971733 79971733 single base substitution G A exon_variant BRCA-US X 79971733 79971733 single base substitution G A stop_gained R750* 2248C>T BRCA-US X 79978166 79978166 single base substitution C G missense_variant D591H 1771G>C BRCA-US X 79978166 79978166 single base substitution C G upstream_gene_variant BRCA-US X 79979248 79979248 single base substitution T C missense_variant K550R 1649A>G BRCA-US X 79979248 79979248 single base substitution T C upstream_gene_variant BRCA-US X 79980464 79980464 single base substitution G A missense_variant R497W 1489C>T BRCA-US X 79980464 79980464 single base substitution G A upstream_gene_variant BRCA-US X 79985496 79985496 single base substitution C G downstream_gene_variant BRCA-US X 79985496 79985496 single base substitution C G missense_variant R384P 1151G>C BRCA-US X 79989644 79989644 single base substitution C G exon_variant BRCA-US X 79989644 79989644 single base substitution C G missense_variant E353D 1059G>C BRCA-US X 79990631 79990631 single base substitution C T missense_variant S327N 980G>A BRCA-US X 79990631 79990631 single base substitution C T upstream_gene_variant BRCA-US X 79990688 79990688 single base substitution G C missense_variant P308R 923C>G BRCA-US X 79990688 79990688 single base substitution G C upstream_gene_variant BRCA-US X 79990692 79990692 single base substitution G A missense_variant R307C 919C>T BRCA-US X 79990692 79990692 single base substitution G A upstream_gene_variant BRCA-US X 79999555 79999555 single base substitution A G exon_variant BRCA-US X 79999555 79999555 single base substitution A G synonymous_variant H263H 789T>C BRCA-US X 79999579 79999579 single base substitution T G exon_variant BRCA-US X 79999579 79999579 single base substitution T G synonymous_variant A255A 765A>C BRCA-US X 80064047 80064047 single base substitution G A exon_variant BRCA-US X 80064047 80064047 single base substitution G A synonymous_variant F57F 171C>T BTCA-JP X 79937460 79937460 single base substitution G A intron_variant BTCA-JP X 79937623 79937623 deletion of <=200bp T - intron_variant BTCA-JP X 79946627 79946627 single base substitution G T exon_variant BTCA-JP X 79946627 79946627 single base substitution G T missense_variant P1176H 3527C>A BTCA-JP X 79947309 79947309 single base substitution A G intron_variant BTCA-JP X 79947358 79947358 single base substitution G A exon_variant BTCA-JP X 79947358 79947358 single base substitution G A missense_variant R1149W 3445C>T BTCA-JP X 79951489 79951489 single base substitution C A missense_variant K1023N 3069G>T BTCA-JP X 79951489 79951489 single base substitution C A splice_region_variant BTCA-JP X 79960075 79960075 single base substitution T C intron_variant BTCA-JP X 79962983 79962983 single base substitution G A exon_variant BTCA-JP X 79962983 79962983 single base substitution G A missense_variant T832I 2495C>T BTCA-JP X 79973094 79973094 single base substitution C T exon_variant BTCA-JP X 79973094 79973094 single base substitution C T missense_variant E737K 2209G>A BTCA-JP X 79974989 79974989 single base substitution A G splice_region_variant BTCA-JP X 79975173 79975173 single base substitution C T intron_variant BTCA-JP X 79975173 79975173 single base substitution C T upstream_gene_variant BTCA-JP X 79984375 79984375 single base substitution A G downstream_gene_variant BTCA-JP X 79984375 79984375 single base substitution A G missense_variant I421T 1262T>C BTCA-JP X 79989095 79989097 deletion of <=200bp TTT - intron_variant BTCA-JP X 79991591 79991592 deletion of <=200bp AA - splice_region_variant BTCA-JP X 79991591 79991592 deletion of <=200bp AA - upstream_gene_variant BTCA-JP X 79991603 79991603 single base substitution A C intron_variant BTCA-JP X 79991603 79991603 single base substitution A C upstream_gene_variant CESC-US X 79932387 79932387 single base substitution C G downstream_gene_variant CESC-US X 79932387 79932387 single base substitution C G synonymous_variant G1710G 5130G>C CESC-US X 79936929 79936929 single base substitution G A exon_variant CESC-US X 79936929 79936929 single base substitution G A missense_variant S1522L 4565C>T CESC-US X 79942412 79942412 single base substitution G T exon_variant CESC-US X 79942412 79942412 single base substitution G T missense_variant R1319S 3955C>A CESC-US X 79946590 79946590 single base substitution G A exon_variant CESC-US X 79946590 79946590 single base substitution G A synonymous_variant L1188L 3564C>T CESC-US X 79955474 79955474 single base substitution C T exon_variant CESC-US X 79955474 79955474 single base substitution C T stop_gained W975* 2925G>A CESC-US X 79965077 79965077 single base substitution C T splice_acceptor_variant CESC-US X 79975055 79975055 single base substitution G A exon_variant CESC-US X 79975055 79975055 single base substitution G A synonymous_variant D659D 1977C>T CESC-US X 79980505 79980505 single base substitution G A missense_variant S483L 1448C>T CESC-US X 79980505 79980505 single base substitution G A upstream_gene_variant CESC-US X 79991582 79991582 single base substitution A G synonymous_variant C273C 819T>C CESC-US X 79991582 79991582 single base substitution A G upstream_gene_variant CESC-US X 79999553 79999553 single base substitution G A exon_variant CESC-US X 79999553 79999553 single base substitution G A missense_variant S264L 791C>T CESC-US X 79999566 79999566 single base substitution G C exon_variant CESC-US X 79999566 79999566 single base substitution G C missense_variant L260V 778C>G CESC-US X 79999748 79999748 single base substitution G A exon_variant CESC-US X 79999748 79999748 single base substitution G A missense_variant S199L 596C>T CESC-US X 80064057 80064057 single base substitution C T exon_variant CESC-US X 80064057 80064057 single base substitution C T missense_variant R54Q 161G>A CLLE-ES X 79936739 79936739 single base substitution T G intron_variant CLLE-ES X 79937094 79937094 single base substitution T C intron_variant CLLE-ES X 79941925 79941925 single base substitution T A intron_variant CLLE-ES X 79944607 79944607 single base substitution T A intron_variant CLLE-ES X 79946456 79946457 multiple base substitution (>=2bp and <=200bp) AT TG intron_variant CLLE-ES X 79961451 79961451 single base substitution T G intron_variant CLLE-ES X 79965235 79965235 single base substitution A T intron_variant CLLE-ES X 79969520 79969520 single base substitution C T downstream_gene_variant CLLE-ES X 79969520 79969520 single base substitution C T intron_variant CLLE-ES X 79977359 79977359 single base substitution T G intron_variant CLLE-ES X 79977359 79977359 single base substitution T G upstream_gene_variant CLLE-ES X 79989918 79989918 single base substitution A G intron_variant CLLE-ES X 79989918 79989918 single base substitution A G upstream_gene_variant CLLE-ES X 80004285 80004285 single base substitution C G intron_variant CLLE-ES X 80007486 80007486 single base substitution T C intron_variant CLLE-ES X 80019413 80019413 single base substitution C A intron_variant CLLE-ES X 80042403 80042403 single base substitution A C intron_variant CLLE-ES X 80043781 80043781 single base substitution G C intron_variant CLLE-ES X 80056544 80056544 single base substitution T C intron_variant CLLE-ES X 80060891 80060891 single base substitution A C intron_variant CLLE-ES X 80061873 80061873 single base substitution G A intron_variant CLLE-ES X 80066957 80066957 single base substitution T G upstream_gene_variant CLLE-ES X 80068684 80068684 single base substitution C G upstream_gene_variant CLLE-ES X 80068730 80068730 single base substitution C T upstream_gene_variant COAD-US X 79932401 79932401 single base substitution C G downstream_gene_variant COAD-US X 79932401 79932401 single base substitution C G missense_variant G1706R 5116G>C COAD-US X 79936867 79936867 single base substitution G A exon_variant COAD-US X 79936867 79936867 single base substitution G A missense_variant R1543W 4627C>T COAD-US X 79936922 79936922 single base substitution G A exon_variant COAD-US X 79936922 79936922 single base substitution G A synonymous_variant F1524F 4572C>T COAD-US X 79938009 79938009 single base substitution C A exon_variant COAD-US X 79938009 79938009 single base substitution C A missense_variant R1451L 4352G>T COAD-US X 79939575 79939575 single base substitution T C intron_variant COAD-US X 79939575 79939575 single base substitution T C synonymous_variant E1389E 4167A>G COAD-US X 79942391 79942391 single base substitution G A exon_variant COAD-US X 79942391 79942391 single base substitution G A stop_gained R1326* 3976C>T COAD-US X 79945281 79945281 single base substitution T C exon_variant COAD-US X 79945281 79945281 single base substitution T C missense_variant T1265A 3793A>G COAD-US X 79946561 79946561 single base substitution C T exon_variant COAD-US X 79946561 79946561 single base substitution C T missense_variant R1198H 3593G>A COAD-US X 79948464 79948464 single base substitution T A exon_variant COAD-US X 79948464 79948464 single base substitution T A missense_variant S1080C 3238A>T COAD-US X 79952245 79952245 single base substitution A G exon_variant COAD-US X 79952245 79952245 single base substitution A G missense_variant S1021P 3061T>C COAD-US X 79964960 79964960 single base substitution T C exon_variant COAD-US X 79964960 79964960 single base substitution T C synonymous_variant S814S 2442A>G COAD-US X 79964984 79964984 single base substitution A T exon_variant COAD-US X 79964984 79964984 single base substitution A T missense_variant N806K 2418T>A COAD-US X 79971739 79971739 single base substitution C A downstream_gene_variant COAD-US X 79971739 79971739 single base substitution C A exon_variant COAD-US X 79971739 79971739 single base substitution C A stop_gained E748* 2242G>T COAD-US X 79975052 79975052 single base substitution C A exon_variant COAD-US X 79975052 79975052 single base substitution C A synonymous_variant L660L 1980G>T COAD-US X 79979332 79979332 single base substitution G A missense_variant S522L 1565C>T COAD-US X 79979332 79979332 single base substitution G A upstream_gene_variant COAD-US X 79984301 79984301 single base substitution G T downstream_gene_variant COAD-US X 79984301 79984301 single base substitution G T missense_variant L446I 1336C>A COAD-US X 79984405 79984405 single base substitution C A downstream_gene_variant COAD-US X 79984405 79984405 single base substitution C A splice_acceptor_variant COAD-US X 79985485 79985485 single base substitution C T downstream_gene_variant COAD-US X 79985485 79985485 single base substitution C T missense_variant A388T 1162G>A COAD-US X 79989615 79989615 single base substitution A G splice_donor_variant COAD-US X 79990624 79990624 single base substitution A G splice_donor_variant COAD-US X 79990624 79990624 single base substitution A G upstream_gene_variant COAD-US X 79990690 79990690 single base substitution G A synonymous_variant R307R 921C>T COAD-US X 79990690 79990690 single base substitution G A upstream_gene_variant COAD-US X 79999631 79999631 single base substitution G A exon_variant COAD-US X 79999631 79999631 single base substitution G A missense_variant A238V 713C>T COAD-US X 79999706 79999706 single base substitution C T exon_variant COAD-US X 79999706 79999706 single base substitution C T missense_variant R213H 638G>A COAD-US X 80064039 80064039 single base substitution A G missense_variant L60P 179T>C COAD-US X 80064039 80064039 single base substitution A G splice_region_variant COAD-US X 80064520 80064520 single base substitution C T exon_variant COAD-US X 80064520 80064520 single base substitution C T missense_variant E38K 112G>A COCA-CN X 79932611 79932611 single base substitution C T downstream_gene_variant COCA-CN X 79932611 79932611 single base substitution C T missense_variant V1636I 4906G>A COCA-CN X 79937013 79937013 single base substitution G T intron_variant COCA-CN X 79942462 79942462 single base substitution G T exon_variant COCA-CN X 79942462 79942462 single base substitution G T missense_variant P1302H 3905C>A COCA-CN X 79945402 79945402 single base substitution T G intron_variant COCA-CN X 79945660 79945660 single base substitution A C intron_variant COCA-CN X 79946538 79946538 single base substitution A T intron_variant COCA-CN X 79946562 79946562 single base substitution G A exon_variant COCA-CN X 79946562 79946562 single base substitution G A missense_variant R1198C 3592C>T COCA-CN X 79947357 79947357 single base substitution C T exon_variant COCA-CN X 79947357 79947357 single base substitution C T missense_variant R1149Q 3446G>A COCA-CN X 79947367 79947367 single base substitution C A exon_variant COCA-CN X 79947367 79947367 single base substitution C A stop_gained E1146* 3436G>T COCA-CN X 79951527 79951527 single base substitution G T intron_variant COCA-CN X 79951568 79951568 single base substitution T A intron_variant COCA-CN X 79959136 79959136 single base substitution C A intron_variant COCA-CN X 79960204 79960204 single base substitution C T exon_variant COCA-CN X 79960204 79960204 single base substitution C T synonymous_variant Q898Q 2694G>A COCA-CN X 79975100 79975100 single base substitution C T exon_variant COCA-CN X 79975100 79975100 single base substitution C T synonymous_variant E644E 1932G>A COCA-CN X 79975100 79975100 single base substitution C T upstream_gene_variant COCA-CN X 79985497 79985497 single base substitution G A downstream_gene_variant COCA-CN X 79985497 79985497 single base substitution G A stop_gained R384* 1150C>T COCA-CN X 79990692 79990692 single base substitution G A missense_variant R307C 919C>T COCA-CN X 79990692 79990692 single base substitution G A upstream_gene_variant COCA-CN X 79991481 79991481 single base substitution A G splice_region_variant COCA-CN X 79991481 79991481 single base substitution A G upstream_gene_variant COCA-CN X 79999797 79999797 insertion of <=200bp - CAC intron_variant COCA-CN X 80001107 80001107 single base substitution G A exon_variant COCA-CN X 80001107 80001107 single base substitution G A synonymous_variant Y184Y 552C>T COCA-CN X 80001135 80001135 single base substitution C A exon_variant COCA-CN X 80001135 80001135 single base substitution C A missense_variant R175I 524G>T COCA-CN X 80047307 80047307 single base substitution G A intron_variant COCA-CN X 80064658 80064658 single base substitution A G intron_variant EOPC-DE X 80007820 80007820 single base substitution T A intron_variant ESCA-CN X 79932221 79932221 single base substitution C G downstream_gene_variant ESCA-CN X 79932221 79932221 single base substitution C G missense_variant D1766H 5296G>C ESCA-CN X 79937979 79937979 single base substitution C A exon_variant ESCA-CN X 79937979 79937979 single base substitution C A missense_variant S1461I 4382G>T ESCA-CN X 79939387 79939387 single base substitution G A intron_variant ESCA-CN X 79945554 79945554 single base substitution C T exon_variant ESCA-CN X 79945554 79945554 single base substitution C T missense_variant E1214K 3640G>A ESCA-CN X 79947433 79947433 single base substitution C T exon_variant ESCA-CN X 79947433 79947433 single base substitution C T missense_variant E1124K 3370G>A ESCA-CN X 79955527 79955527 single base substitution G A exon_variant ESCA-CN X 79955527 79955527 single base substitution G A missense_variant R958W 2872C>T ESCA-CN X 80064792 80064792 single base substitution G A exon_variant ESCA-CN X 80064792 80064792 single base substitution G A synonymous_variant L15L 43C>T GBM-US X 79938109 79938109 single base substitution G A exon_variant GBM-US X 79938109 79938109 single base substitution G A stop_gained R1418* 4252C>T GBM-US X 79960260 79960260 single base substitution G A exon_variant GBM-US X 79960260 79960260 single base substitution G A missense_variant R880C 2638C>T GBM-US X 79999713 79999713 single base substitution C T exon_variant GBM-US X 79999713 79999713 single base substitution C T missense_variant D211N 631G>A KIRC-US X 79939596 79939596 single base substitution T C exon_variant KIRC-US X 79939596 79939596 single base substitution T C synonymous_variant G1382G 4146A>G KIRC-US X 79941024 79941024 single base substitution C T exon_variant KIRC-US X 79941024 79941024 single base substitution C T synonymous_variant E1339E 4017G>A KIRC-US X 79948521 79948521 single base substitution C T exon_variant KIRC-US X 79948521 79948521 single base substitution C T missense_variant A1061T 3181G>A KIRC-US X 79991541 79991541 single base substitution C G missense_variant G287A 860G>C KIRC-US X 79991541 79991541 single base substitution C G upstream_gene_variant KIRP-US X 80001213 80001213 single base substitution G A exon_variant KIRP-US X 80001213 80001213 single base substitution G A missense_variant A149V 446C>T LAML-KR X 79966107 79966107 single base substitution C A intron_variant LAML-KR X 79981288 79981288 single base substitution G A intron_variant LAML-KR X 79981288 79981288 single base substitution G A upstream_gene_variant LAML-KR X 80045614 80045614 single base substitution T A intron_variant LGG-US X 79932312 79932312 single base substitution G A downstream_gene_variant LGG-US X 79932312 79932312 single base substitution G A synonymous_variant T1735T 5205C>T LGG-US X 79942476 79942476 single base substitution A G exon_variant LGG-US X 79942476 79942476 single base substitution A G synonymous_variant S1297S 3891T>C LIAD-FR X 79999566 79999566 single base substitution G T exon_variant LIAD-FR X 79999566 79999566 single base substitution G T missense_variant L260I 778C>A LICA-FR X 79921599 79921599 single base substitution T A downstream_gene_variant LICA-FR X 79926667 79926667 single base substitution T C 3_prime_UTR_variant LICA-FR X 79939570 79939570 single base substitution T A intron_variant LICA-FR X 79939570 79939570 single base substitution T A missense_variant Y1391F 4172A>T LICA-FR X 79955320 79955320 single base substitution A G intron_variant LICA-FR X 79980809 79980809 single base substitution A C intron_variant LICA-FR X 79980809 79980809 single base substitution A C upstream_gene_variant LICA-FR X 79980827 79980827 single base substitution A G intron_variant LICA-FR X 79980827 79980827 single base substitution A G upstream_gene_variant LICA-FR X 79991491 79991491 single base substitution A C missense_variant F304V 910T>G LICA-FR X 79991491 79991491 single base substitution A C upstream_gene_variant LICA-FR X 80002804 80002804 single base substitution T C intron_variant LICA-FR X 80013952 80013952 single base substitution A T intron_variant LICA-FR X 80031804 80031804 single base substitution T C intron_variant LICA-FR X 80031933 80031933 single base substitution G A intron_variant LICA-FR X 80043072 80043072 insertion of <=200bp - A intron_variant LICA-FR X 80043513 80043513 single base substitution G T intron_variant LICA-FR X 80045335 80045335 single base substitution C T intron_variant LICA-FR X 80052493 80052493 single base substitution C A intron_variant LIHC-US X 79937564 79937576 deletion of <=200bp AACTTCATTTGTT - exon_variant LIHC-US X 79937564 79937576 deletion of <=200bp AACTTCATTTGTT - frameshift_variant KQMKL1472 LIHC-US X 79979304 79979304 single base substitution T C synonymous_variant T531T 1593A>G LIHC-US X 79979304 79979304 single base substitution T C upstream_gene_variant LIHC-US X 79984393 79984393 single base substitution G A downstream_gene_variant LIHC-US X 79984393 79984393 single base substitution G A missense_variant P415L 1244C>T LIHC-US X 79999579 79999579 single base substitution T C exon_variant LIHC-US X 79999579 79999579 single base substitution T C synonymous_variant A255A 765A>G LINC-JP X 79942619 79942619 single base substitution A G intron_variant LINC-JP X 79945400 79945400 single base substitution T C intron_variant LINC-JP X 79951412 79951412 single base substitution T C exon_variant LINC-JP X 79951412 79951412 single base substitution T C missense_variant Q1049R 3146A>G LINC-JP X 79952170 79952170 single base substitution T C intron_variant LINC-JP X 79955561 79955561 single base substitution A G splice_region_variant LINC-JP X 79958185 79958185 single base substitution A G intron_variant LINC-JP X 79960240 79960240 single base substitution A G exon_variant LINC-JP X 79960240 79960240 single base substitution A G synonymous_variant S886S 2658T>C LINC-JP X 79963004 79963004 single base substitution T C splice_acceptor_variant LINC-JP X 79972470 79972470 single base substitution G A exon_variant LINC-JP X 79972470 79972470 single base substitution G A intron_variant LINC-JP X 79978034 79978034 single base substitution T C intron_variant LINC-JP X 79978034 79978034 single base substitution T C upstream_gene_variant LINC-JP X 79979443 79979443 single base substitution T C intron_variant LINC-JP X 79979443 79979443 single base substitution T C upstream_gene_variant LINC-JP X 79988769 79988769 single base substitution C T exon_variant LINC-JP X 79988769 79988769 single base substitution C T intron_variant LINC-JP X 79988808 79988808 single base substitution T C exon_variant LINC-JP X 79988808 79988808 single base substitution T C intron_variant LINC-JP X 80013501 80013501 single base substitution C A intron_variant LINC-JP X 80029691 80029691 single base substitution A G intron_variant LINC-JP X 80039545 80039545 single base substitution T C intron_variant LINC-JP X 80041831 80041831 single base substitution G T intron_variant LINC-JP X 80045718 80045718 deletion of <=200bp G - intron_variant LINC-JP X 80064853 80064853 single base substitution T C intron_variant LIRI-JP X 79923069 79923069 single base substitution A G downstream_gene_variant LIRI-JP X 79925389 79925389 single base substitution T C downstream_gene_variant LIRI-JP X 79925715 79925715 single base substitution T C downstream_gene_variant LIRI-JP X 79928105 79928105 single base substitution T C 3_prime_UTR_variant LIRI-JP X 79928105 79928105 single base substitution T C downstream_gene_variant LIRI-JP X 79930146 79930146 single base substitution G A 3_prime_UTR_variant LIRI-JP X 79930146 79930146 single base substitution G A downstream_gene_variant LIRI-JP X 79930475 79930475 single base substitution T A 3_prime_UTR_variant LIRI-JP X 79930475 79930475 single base substitution T A downstream_gene_variant LIRI-JP X 79931132 79931132 insertion of <=200bp - GTTGGATGCT 3_prime_UTR_variant LIRI-JP X 79931132 79931132 insertion of <=200bp - GTTGGATGCT downstream_gene_variant LIRI-JP X 79937657 79937657 single base substitution A G intron_variant LIRI-JP X 79941256 79941256 single base substitution T C intron_variant LIRI-JP X 79942017 79942017 single base substitution C T intron_variant LIRI-JP X 79942170 79942172 deletion of <=200bp ATA - intron_variant LIRI-JP X 79942287 79942287 single base substitution T C intron_variant LIRI-JP X 79943277 79943277 single base substitution C T intron_variant LIRI-JP X 79944633 79944633 single base substitution A C intron_variant LIRI-JP X 79945138 79945138 single base substitution C A intron_variant LIRI-JP X 79945557 79945557 single base substitution T C exon_variant LIRI-JP X 79945557 79945557 single base substitution T C missense_variant I1213V 3637A>G LIRI-JP X 79945984 79945984 single base substitution T C intron_variant LIRI-JP X 79949878 79949878 single base substitution G A intron_variant LIRI-JP X 79951221 79951221 single base substitution A G intron_variant LIRI-JP X 79951814 79951814 single base substitution A G intron_variant LIRI-JP X 79951843 79951843 single base substitution A G intron_variant LIRI-JP X 79956060 79956060 single base substitution A G intron_variant LIRI-JP X 79958740 79958740 single base substitution T A intron_variant LIRI-JP X 79959735 79959735 single base substitution T C intron_variant LIRI-JP X 79959738 79959738 single base substitution T G intron_variant LIRI-JP X 79961889 79961889 single base substitution T C intron_variant LIRI-JP X 79961954 79961954 single base substitution A G intron_variant LIRI-JP X 79963251 79963251 single base substitution T C intron_variant LIRI-JP X 79963921 79963921 single base substitution G T intron_variant LIRI-JP X 79970984 79970984 single base substitution T A downstream_gene_variant LIRI-JP X 79970984 79970984 single base substitution T A intron_variant LIRI-JP X 79972356 79972356 single base substitution G T downstream_gene_variant LIRI-JP X 79972356 79972356 single base substitution G T intron_variant LIRI-JP X 79973107 79973107 single base substitution T C exon_variant LIRI-JP X 79973107 79973107 single base substitution T C synonymous_variant R732R 2196A>G LIRI-JP X 79974033 79974033 single base substitution A G intron_variant LIRI-JP X 79976830 79976830 single base substitution C A intron_variant LIRI-JP X 79976830 79976830 single base substitution C A upstream_gene_variant LIRI-JP X 79977194 79977194 single base substitution C A intron_variant LIRI-JP X 79977194 79977194 single base substitution C A upstream_gene_variant LIRI-JP X 79977195 79977195 single base substitution C A intron_variant LIRI-JP X 79977195 79977195 single base substitution C A upstream_gene_variant LIRI-JP X 79980189 79980189 single base substitution T C intron_variant LIRI-JP X 79980189 79980189 single base substitution T C upstream_gene_variant LIRI-JP X 79980279 79980279 single base substitution T C intron_variant LIRI-JP X 79980279 79980279 single base substitution T C upstream_gene_variant LIRI-JP X 79980357 79980357 single base substitution T A intron_variant LIRI-JP X 79980357 79980357 single base substitution T A upstream_gene_variant LIRI-JP X 79982062 79982062 single base substitution T C intron_variant LIRI-JP X 79982062 79982062 single base substitution T C upstream_gene_variant LIRI-JP X 79982714 79982714 single base substitution C G intron_variant LIRI-JP X 79982714 79982714 single base substitution C G upstream_gene_variant LIRI-JP X 79982945 79982945 single base substitution T A intron_variant LIRI-JP X 79982945 79982945 single base substitution T A upstream_gene_variant LIRI-JP X 79984537 79984537 single base substitution A G downstream_gene_variant LIRI-JP X 79984537 79984537 single base substitution A G intron_variant LIRI-JP X 79986641 79986641 single base substitution T C downstream_gene_variant LIRI-JP X 79986641 79986641 single base substitution T C intron_variant LIRI-JP X 79986823 79986823 single base substitution T C downstream_gene_variant LIRI-JP X 79986823 79986823 single base substitution T C intron_variant LIRI-JP X 79990816 79990816 single base substitution C T intron_variant LIRI-JP X 79990816 79990816 single base substitution C T upstream_gene_variant LIRI-JP X 79992484 79992484 single base substitution A G intron_variant LIRI-JP X 79992484 79992484 single base substitution A G upstream_gene_variant LIRI-JP X 79994786 79994786 single base substitution C A downstream_gene_variant LIRI-JP X 79994786 79994786 single base substitution C A intron_variant LIRI-JP X 79995956 79995956 single base substitution T C downstream_gene_variant LIRI-JP X 79995956 79995956 single base substitution T C intron_variant LIRI-JP X 79996895 79996895 single base substitution A G downstream_gene_variant LIRI-JP X 79996895 79996895 single base substitution A G intron_variant LIRI-JP X 79998732 79998732 single base substitution C G downstream_gene_variant LIRI-JP X 79998732 79998732 single base substitution C G intron_variant LIRI-JP X 79999845 79999850 deletion of <=200bp TACTTC - intron_variant LIRI-JP X 79999886 79999891 deletion of <=200bp ATAGGG - intron_variant LIRI-JP X 80001593 80001593 single base substitution A G intron_variant LIRI-JP X 80002559 80002559 single base substitution C A intron_variant LIRI-JP X 80002560 80002560 single base substitution C A intron_variant LIRI-JP X 80003658 80003658 single base substitution A G intron_variant LIRI-JP X 80004015 80004015 single base substitution C T intron_variant LIRI-JP X 80004656 80004656 single base substitution T A intron_variant LIRI-JP X 80004701 80004701 single base substitution T C intron_variant LIRI-JP X 80005596 80005596 single base substitution G T intron_variant LIRI-JP X 80008757 80008757 single base substitution G A intron_variant LIRI-JP X 80008901 80008901 single base substitution T A intron_variant LIRI-JP X 80011303 80011303 single base substitution T C intron_variant LIRI-JP X 80012615 80012615 single base substitution T A intron_variant LIRI-JP X 80013085 80013085 single base substitution T A intron_variant LIRI-JP X 80013086 80013086 single base substitution A T intron_variant LIRI-JP X 80013873 80013873 single base substitution A G intron_variant LIRI-JP X 80014539 80014539 single base substitution G A intron_variant LIRI-JP X 80016315 80016315 single base substitution T A intron_variant LIRI-JP X 80016678 80016678 single base substitution T A intron_variant LIRI-JP X 80020069 80020069 single base substitution C T intron_variant LIRI-JP X 80020256 80020256 single base substitution T G intron_variant LIRI-JP X 80028489 80028489 single base substitution T C intron_variant LIRI-JP X 80028769 80028769 single base substitution A G intron_variant LIRI-JP X 80030544 80030544 single base substitution G A intron_variant LIRI-JP X 80030619 80030619 single base substitution A G intron_variant LIRI-JP X 80032812 80032812 single base substitution C T intron_variant LIRI-JP X 80033604 80033604 single base substitution A G intron_variant LIRI-JP X 80035809 80035809 single base substitution T C intron_variant LIRI-JP X 80035878 80035882 deletion of <=200bp AATAA - intron_variant LIRI-JP X 80038241 80038241 single base substitution A C intron_variant LIRI-JP X 80040104 80040104 single base substitution T G intron_variant LIRI-JP X 80040921 80040921 single base substitution A C intron_variant LIRI-JP X 80041936 80041936 single base substitution T C intron_variant LIRI-JP X 80043252 80043252 single base substitution T C intron_variant LIRI-JP X 80044029 80044029 single base substitution G T intron_variant LIRI-JP X 80044510 80044510 single base substitution T C intron_variant LIRI-JP X 80044860 80044860 single base substitution T C intron_variant LIRI-JP X 80045022 80045022 single base substitution G A intron_variant LIRI-JP X 80045169 80045169 single base substitution C T intron_variant LIRI-JP X 80048362 80048362 single base substitution C T intron_variant LIRI-JP X 80060176 80060176 single base substitution C A intron_variant LIRI-JP X 80062814 80062814 single base substitution T G intron_variant LIRI-JP X 80065807 80065807 single base substitution A G upstream_gene_variant LIRI-JP X 80065989 80065989 single base substitution A G upstream_gene_variant LIRI-JP X 80066761 80066761 deletion of <=200bp T - upstream_gene_variant LUSC-KR X 79925252 79925252 single base substitution C T downstream_gene_variant LUSC-KR X 79934843 79934843 single base substitution G T intron_variant LUSC-KR X 79935041 79935041 single base substitution T C intron_variant LUSC-KR X 79938658 79938658 single base substitution T G intron_variant LUSC-KR X 79951602 79951602 single base substitution T C intron_variant LUSC-KR X 79952588 79952588 single base substitution T A intron_variant LUSC-KR X 79963671 79963671 single base substitution G A intron_variant LUSC-KR X 79965002 79965002 single base substitution C A exon_variant LUSC-KR X 79965002 79965002 single base substitution C A synonymous_variant R800R 2400G>T LUSC-KR X 79967993 79967993 single base substitution C T downstream_gene_variant LUSC-KR X 79967993 79967993 single base substitution C T intron_variant LUSC-KR X 79978406 79978406 single base substitution C A intron_variant LUSC-KR X 79978406 79978406 single base substitution C A upstream_gene_variant LUSC-KR X 79979518 79979518 single base substitution T A intron_variant LUSC-KR X 79979518 79979518 single base substitution T A upstream_gene_variant LUSC-KR X 79993149 79993149 single base substitution T C intron_variant LUSC-KR X 79993149 79993149 single base substitution T C upstream_gene_variant LUSC-KR X 80000778 80000778 single base substitution T C intron_variant LUSC-KR X 80003770 80003770 single base substitution C T intron_variant LUSC-KR X 80013240 80013240 single base substitution A G intron_variant LUSC-KR X 80018138 80018138 single base substitution G T intron_variant LUSC-KR X 80029389 80029389 single base substitution C T intron_variant LUSC-KR X 80032099 80032099 single base substitution G C intron_variant LUSC-KR X 80038286 80038286 single base substitution C A intron_variant LUSC-KR X 80038287 80038287 single base substitution C A intron_variant LUSC-KR X 80038289 80038289 single base substitution G A intron_variant LUSC-KR X 80041057 80041057 single base substitution G A intron_variant LUSC-KR X 80043041 80043041 single base substitution C A intron_variant LUSC-KR X 80045066 80045066 single base substitution G A intron_variant LUSC-KR X 80048819 80048819 single base substitution T C intron_variant LUSC-KR X 80049010 80049010 single base substitution G C intron_variant LUSC-KR X 80056696 80056696 single base substitution G T intron_variant LUSC-KR X 80062200 80062200 single base substitution C A intron_variant LUSC-KR X 80068685 80068685 single base substitution C A upstream_gene_variant LUSC-KR X 80069160 80069160 single base substitution C G upstream_gene_variant LUSC-KR X 80069550 80069550 single base substitution G A upstream_gene_variant LUSC-US X 79932487 79932487 single base substitution C T downstream_gene_variant LUSC-US X 79932487 79932487 single base substitution C T missense_variant G1677E 5030G>A LUSC-US X 79936891 79936891 single base substitution C A exon_variant LUSC-US X 79936891 79936891 single base substitution C A missense_variant D1535Y 4603G>T LUSC-US X 79937529 79937529 single base substitution G A exon_variant LUSC-US X 79937529 79937529 single base substitution G A missense_variant H1488Y 4462C>T LUSC-US X 79945466 79945466 single base substitution C A missense_variant G1243V 3728G>T LUSC-US X 79945466 79945466 single base substitution C A splice_region_variant LUSC-US X 79946652 79946652 single base substitution C T exon_variant LUSC-US X 79946652 79946652 single base substitution C T missense_variant V1168I 3502G>A LUSC-US X 79971739 79971739 single base substitution C T downstream_gene_variant LUSC-US X 79971739 79971739 single base substitution C T exon_variant LUSC-US X 79971739 79971739 single base substitution C T missense_variant E748K 2242G>A LUSC-US X 79974986 79974986 single base substitution A T splice_donor_variant LUSC-US X 79975093 79975093 single base substitution G C exon_variant LUSC-US X 79975093 79975093 single base substitution G C missense_variant L647V 1939C>G LUSC-US X 79975093 79975093 single base substitution G C upstream_gene_variant LUSC-US X 79975108 79975108 single base substitution G T exon_variant LUSC-US X 79975108 79975108 single base substitution G T missense_variant Q642K 1924C>A LUSC-US X 79975108 79975108 single base substitution G T upstream_gene_variant LUSC-US X 79978075 79978075 single base substitution C A missense_variant G621V 1862G>T LUSC-US X 79978075 79978075 single base substitution C A upstream_gene_variant LUSC-US X 79978191 79978191 single base substitution G T missense_variant H582Q 1746C>A LUSC-US X 79978191 79978191 single base substitution G T upstream_gene_variant LUSC-US X 79999534 79999534 single base substitution T A exon_variant LUSC-US X 79999534 79999534 single base substitution T A synonymous_variant I270I 810A>T LUSC-US X 79999572 79999572 single base substitution C A exon_variant LUSC-US X 79999572 79999572 single base substitution C A missense_variant A258S 772G>T LUSC-US X 79999630 79999630 single base substitution A G exon_variant LUSC-US X 79999630 79999630 single base substitution A G synonymous_variant A238A 714T>C LUSC-US X 79999651 79999651 single base substitution G C exon_variant LUSC-US X 79999651 79999651 single base substitution G C missense_variant N231K 693C>G LUSC-US X 80047436 80047436 single base substitution A T exon_variant LUSC-US X 80047436 80047436 single base substitution A T missense_variant L116Q 347T>A LUSC-US X 80064747 80064747 single base substitution G A splice_region_variant LUSC-US X 80064747 80064747 single base substitution G A stop_gained Q30* 88C>T MALY-DE X 79922702 79922702 single base substitution C T downstream_gene_variant MALY-DE X 79926198 79926198 single base substitution C T downstream_gene_variant MALY-DE X 79927211 79927211 single base substitution T G 3_prime_UTR_variant MALY-DE X 79928508 79928508 single base substitution T G 3_prime_UTR_variant MALY-DE X 79928508 79928508 single base substitution T G downstream_gene_variant MALY-DE X 79928918 79928918 single base substitution A G 3_prime_UTR_variant MALY-DE X 79928918 79928918 single base substitution A G downstream_gene_variant MALY-DE X 79929494 79929494 single base substitution G A 3_prime_UTR_variant MALY-DE X 79929494 79929494 single base substitution G A downstream_gene_variant MALY-DE X 79930575 79930575 single base substitution A G 3_prime_UTR_variant MALY-DE X 79930575 79930575 single base substitution A G downstream_gene_variant MALY-DE X 79930720 79930720 single base substitution A G 3_prime_UTR_variant MALY-DE X 79930720 79930720 single base substitution A G downstream_gene_variant MALY-DE X 79930910 79930910 single base substitution G A 3_prime_UTR_variant MALY-DE X 79930910 79930910 single base substitution G A downstream_gene_variant MALY-DE X 79935558 79935558 single base substitution A G intron_variant MALY-DE X 79939899 79939899 single base substitution G T intron_variant MALY-DE X 79942670 79942670 single base substitution C T intron_variant MALY-DE X 79943554 79943554 single base substitution A G intron_variant MALY-DE X 79953106 79953106 single base substitution C T intron_variant MALY-DE X 79953750 79953750 single base substitution C T intron_variant MALY-DE X 79953800 79953800 single base substitution T G intron_variant MALY-DE X 79957777 79957777 single base substitution C T intron_variant MALY-DE X 79961510 79961510 single base substitution T C intron_variant MALY-DE X 79961610 79961610 deletion of <=200bp T - intron_variant MALY-DE X 79961741 79961741 single base substitution G T intron_variant MALY-DE X 79966585 79966585 single base substitution G A intron_variant MALY-DE X 79968206 79968213 deletion of <=200bp CGCCTCTT - downstream_gene_variant MALY-DE X 79968206 79968213 deletion of <=200bp CGCCTCTT - intron_variant MALY-DE X 79973039 79973039 single base substitution A C exon_variant MALY-DE X 79973039 79973039 single base substitution A C intron_variant MALY-DE X 79974102 79974102 single base substitution C A intron_variant MALY-DE X 79977913 79977913 single base substitution A T intron_variant MALY-DE X 79977913 79977913 single base substitution A T upstream_gene_variant MALY-DE X 79980256 79980256 single base substitution C A intron_variant MALY-DE X 79980256 79980256 single base substitution C A upstream_gene_variant MALY-DE X 79982492 79982492 single base substitution A G intron_variant MALY-DE X 79982492 79982492 single base substitution A G upstream_gene_variant MALY-DE X 79983846 79983846 single base substitution C A downstream_gene_variant MALY-DE X 79983846 79983846 single base substitution C A intron_variant MALY-DE X 79985247 79985247 single base substitution T A downstream_gene_variant MALY-DE X 79985247 79985247 single base substitution T A intron_variant MALY-DE X 79988859 79988859 single base substitution G A exon_variant MALY-DE X 79988859 79988859 single base substitution G A intron_variant MALY-DE X 79991632 79991632 single base substitution C T intron_variant MALY-DE X 79991632 79991632 single base substitution C T upstream_gene_variant MALY-DE X 79991646 79991646 single base substitution A C intron_variant MALY-DE X 79991646 79991646 single base substitution A C upstream_gene_variant MALY-DE X 79992665 79992665 single base substitution G T intron_variant MALY-DE X 79992665 79992665 single base substitution G T upstream_gene_variant MALY-DE X 79992772 79992772 single base substitution C T intron_variant MALY-DE X 79992772 79992772 single base substitution C T upstream_gene_variant MALY-DE X 79993205 79993205 single base substitution A T intron_variant MALY-DE X 79993205 79993205 single base substitution A T upstream_gene_variant MALY-DE X 79994827 79994827 single base substitution A T downstream_gene_variant MALY-DE X 79994827 79994827 single base substitution A T intron_variant MALY-DE X 79995982 79995982 single base substitution G A downstream_gene_variant MALY-DE X 79995982 79995982 single base substitution G A intron_variant MALY-DE X 79999459 79999459 single base substitution A C exon_variant MALY-DE X 79999459 79999459 single base substitution A C intron_variant MALY-DE X 80000153 80000153 single base substitution C A intron_variant MALY-DE X 80000769 80000769 single base substitution A C intron_variant MALY-DE X 80001272 80001272 single base substitution G A intron_variant MALY-DE X 80001310 80001310 single base substitution A T intron_variant MALY-DE X 80001598 80001598 single base substitution T C intron_variant MALY-DE X 80003325 80003325 single base substitution C A intron_variant MALY-DE X 80007834 80007834 single base substitution T A intron_variant MALY-DE X 80008842 80008842 single base substitution C G intron_variant MALY-DE X 80010512 80010512 deletion of <=200bp A - intron_variant MALY-DE X 80010982 80010982 single base substitution A C intron_variant MALY-DE X 80011433 80011433 single base substitution A G intron_variant MALY-DE X 80014154 80014154 insertion of <=200bp - A intron_variant MALY-DE X 80015688 80015688 single base substitution G T intron_variant MALY-DE X 80020103 80020103 single base substitution C T intron_variant MALY-DE X 80025893 80025893 single base substitution T G intron_variant MALY-DE X 80031348 80031348 single base substitution C A intron_variant MALY-DE X 80036924 80036924 single base substitution T C intron_variant MALY-DE X 80037149 80037149 single base substitution A C intron_variant MALY-DE X 80041021 80041021 single base substitution C G intron_variant MALY-DE X 80049434 80049434 single base substitution T G intron_variant MALY-DE X 80050847 80050847 single base substitution T C intron_variant MALY-DE X 80052800 80052800 single base substitution T G intron_variant MALY-DE X 80057497 80057497 insertion of <=200bp - A intron_variant MALY-DE X 80057498 80057498 single base substitution A C intron_variant MALY-DE X 80058309 80058309 single base substitution A G intron_variant MALY-DE X 80058650 80058650 single base substitution A G intron_variant MALY-DE X 80061015 80061015 single base substitution T C intron_variant MALY-DE X 80061853 80061853 deletion of <=200bp A - intron_variant MALY-DE X 80065663 80065663 single base substitution G T upstream_gene_variant MALY-DE X 80065666 80065666 single base substitution G A upstream_gene_variant MELA-AU X 79921832 79921832 single base substitution G A downstream_gene_variant MELA-AU X 79922105 79922105 single base substitution G A downstream_gene_variant MELA-AU X 79922252 79922252 single base substitution T G downstream_gene_variant MELA-AU X 79922493 79922493 single base substitution G T downstream_gene_variant MELA-AU X 79922901 79922901 single base substitution C A downstream_gene_variant MELA-AU X 79923036 79923036 single base substitution G A downstream_gene_variant MELA-AU X 79923295 79923295 single base substitution G A downstream_gene_variant MELA-AU X 79923365 79923365 single base substitution C T downstream_gene_variant MELA-AU X 79923810 79923810 single base substitution G A downstream_gene_variant MELA-AU X 79924178 79924178 single base substitution A T downstream_gene_variant MELA-AU X 79924422 79924422 single base substitution A G downstream_gene_variant MELA-AU X 79924463 79924463 single base substitution C T downstream_gene_variant MELA-AU X 79924731 79924731 single base substitution G A downstream_gene_variant MELA-AU X 79924861 79924861 single base substitution G A downstream_gene_variant MELA-AU X 79925062 79925062 single base substitution G A downstream_gene_variant MELA-AU X 79925124 79925124 single base substitution G A downstream_gene_variant MELA-AU X 79925442 79925442 single base substitution G A downstream_gene_variant MELA-AU X 79925656 79925656 single base substitution G A downstream_gene_variant MELA-AU X 79925950 79925950 single base substitution G A downstream_gene_variant MELA-AU X 79926189 79926189 single base substitution G A downstream_gene_variant MELA-AU X 79926358 79926358 single base substitution T G 3_prime_UTR_variant MELA-AU X 79926528 79926528 single base substitution C T 3_prime_UTR_variant MELA-AU X 79927098 79927098 single base substitution A T 3_prime_UTR_variant MELA-AU X 79927249 79927249 single base substitution T A 3_prime_UTR_variant MELA-AU X 79927285 79927285 single base substitution G A 3_prime_UTR_variant MELA-AU X 79927523 79927523 single base substitution G A 3_prime_UTR_variant MELA-AU X 79927560 79927560 single base substitution G A 3_prime_UTR_variant MELA-AU X 79927788 79927788 single base substitution A G 3_prime_UTR_variant MELA-AU X 79927788 79927788 single base substitution A G downstream_gene_variant MELA-AU X 79928245 79928245 single base substitution G T 3_prime_UTR_variant MELA-AU X 79928245 79928245 single base substitution G T downstream_gene_variant MELA-AU X 79928582 79928582 single base substitution G A 3_prime_UTR_variant MELA-AU X 79928582 79928582 single base substitution G A downstream_gene_variant MELA-AU X 79928815 79928815 single base substitution G A 3_prime_UTR_variant MELA-AU X 79928815 79928815 single base substitution G A downstream_gene_variant MELA-AU X 79928993 79928993 single base substitution G A 3_prime_UTR_variant MELA-AU X 79928993 79928993 single base substitution G A downstream_gene_variant MELA-AU X 79929580 79929580 single base substitution G A 3_prime_UTR_variant MELA-AU X 79929580 79929580 single base substitution G A downstream_gene_variant MELA-AU X 79931623 79931623 single base substitution G A 3_prime_UTR_variant MELA-AU X 79931623 79931623 single base substitution G A downstream_gene_variant MELA-AU X 79931651 79931651 single base substitution T C 3_prime_UTR_variant MELA-AU X 79931651 79931651 single base substitution T C downstream_gene_variant MELA-AU X 79931809 79931809 single base substitution C T 3_prime_UTR_variant MELA-AU X 79931809 79931809 single base substitution C T downstream_gene_variant MELA-AU X 79931840 79931840 single base substitution G C 3_prime_UTR_variant MELA-AU X 79931840 79931840 single base substitution G C downstream_gene_variant MELA-AU X 79932117 79932117 single base substitution C G downstream_gene_variant MELA-AU X 79932117 79932117 single base substitution C G missense_variant W1800C 5400G>C MELA-AU X 79932631 79932631 single base substitution G A downstream_gene_variant MELA-AU X 79932631 79932631 single base substitution G A missense_variant S1629F 4886C>T MELA-AU X 79932655 79932655 single base substitution G A downstream_gene_variant MELA-AU X 79932655 79932655 single base substitution G A missense_variant S1621F 4862C>T MELA-AU X 79932915 79932915 single base substitution G A intron_variant MELA-AU X 79933324 79933324 single base substitution G A intron_variant MELA-AU X 79933447 79933447 single base substitution G A intron_variant MELA-AU X 79933553 79933553 single base substitution G A intron_variant MELA-AU X 79933777 79933777 single base substitution G A intron_variant MELA-AU X 79934468 79934468 single base substitution G C intron_variant MELA-AU X 79934939 79934939 single base substitution T A intron_variant MELA-AU X 79936049 79936049 single base substitution G A intron_variant MELA-AU X 79936268 79936268 single base substitution A G intron_variant MELA-AU X 79936288 79936288 single base substitution T C intron_variant MELA-AU X 79936929 79936929 single base substitution G A exon_variant MELA-AU X 79936929 79936929 single base substitution G A missense_variant S1522L 4565C>T MELA-AU X 79936979 79936979 single base substitution C T exon_variant MELA-AU X 79936979 79936979 single base substitution C T synonymous_variant G1505G 4515G>A MELA-AU X 79937153 79937153 single base substitution G A intron_variant MELA-AU X 79937723 79937723 single base substitution C T intron_variant MELA-AU X 79938314 79938314 single base substitution C T intron_variant MELA-AU X 79938734 79938734 single base substitution G A intron_variant MELA-AU X 79938854 79938854 single base substitution C T intron_variant MELA-AU X 79939103 79939103 single base substitution G A intron_variant MELA-AU X 79939360 79939360 single base substitution G A intron_variant MELA-AU X 79939707 79939707 single base substitution G A intron_variant MELA-AU X 79939753 79939753 single base substitution G A intron_variant MELA-AU X 79940067 79940067 single base substitution C T intron_variant MELA-AU X 79940237 79940237 single base substitution G A intron_variant MELA-AU X 79940286 79940286 single base substitution C T intron_variant MELA-AU X 79941230 79941230 single base substitution C T intron_variant MELA-AU X 79941781 79941781 single base substitution G A intron_variant MELA-AU X 79941796 79941796 single base substitution G A intron_variant MELA-AU X 79942033 79942033 single base substitution G A intron_variant MELA-AU X 79942078 79942078 single base substitution G A intron_variant MELA-AU X 79942137 79942137 single base substitution G A intron_variant MELA-AU X 79942221 79942221 single base substitution C T intron_variant MELA-AU X 79942714 79942714 single base substitution C T intron_variant MELA-AU X 79942880 79942880 single base substitution G A intron_variant MELA-AU X 79943074 79943074 single base substitution C T intron_variant MELA-AU X 79943647 79943647 single base substitution G A intron_variant MELA-AU X 79944080 79944080 single base substitution G A intron_variant MELA-AU X 79944384 79944384 single base substitution T C intron_variant MELA-AU X 79944934 79944934 single base substitution A T intron_variant MELA-AU X 79945174 79945174 single base substitution C T intron_variant MELA-AU X 79945587 79945587 single base substitution T C exon_variant MELA-AU X 79945587 79945587 single base substitution T C missense_variant I1203V 3607A>G MELA-AU X 79945946 79945946 single base substitution G A intron_variant MELA-AU X 79946129 79946129 single base substitution C T intron_variant MELA-AU X 79946418 79946418 single base substitution C A intron_variant MELA-AU X 79946788 79946788 single base substitution C T intron_variant MELA-AU X 79946861 79946861 single base substitution T A intron_variant MELA-AU X 79946871 79946871 single base substitution C T intron_variant MELA-AU X 79946929 79946929 single base substitution C T intron_variant MELA-AU X 79947867 79947867 single base substitution T A intron_variant MELA-AU X 79947913 79947913 single base substitution C T intron_variant MELA-AU X 79949751 79949751 single base substitution G A intron_variant MELA-AU X 79949963 79949963 single base substitution G A intron_variant MELA-AU X 79950140 79950140 single base substitution G A intron_variant MELA-AU X 79950289 79950289 single base substitution G A intron_variant MELA-AU X 79950609 79950609 single base substitution G A intron_variant MELA-AU X 79950697 79950697 single base substitution G A intron_variant MELA-AU X 79950729 79950730 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU X 79951053 79951053 single base substitution G A intron_variant MELA-AU X 79952018 79952018 single base substitution T C intron_variant MELA-AU X 79952571 79952581 deletion of <=200bp CACATCACCTG - intron_variant MELA-AU X 79952612 79952612 single base substitution T A intron_variant MELA-AU X 79953113 79953113 single base substitution G A intron_variant MELA-AU X 79953367 79953367 single base substitution C T intron_variant MELA-AU X 79954288 79954288 single base substitution G A intron_variant MELA-AU X 79954615 79954615 single base substitution G A intron_variant MELA-AU X 79954995 79954995 single base substitution G A intron_variant MELA-AU X 79955361 79955361 single base substitution G A intron_variant MELA-AU X 79955366 79955366 single base substitution A T intron_variant MELA-AU X 79955510 79955510 single base substitution C T exon_variant MELA-AU X 79955510 79955510 single base substitution C T synonymous_variant S963S 2889G>A MELA-AU X 79955725 79955725 single base substitution C T intron_variant MELA-AU X 79956654 79956654 single base substitution G A intron_variant MELA-AU X 79956813 79956813 single base substitution G A intron_variant MELA-AU X 79957025 79957025 single base substitution G A intron_variant MELA-AU X 79957439 79957439 single base substitution G C intron_variant MELA-AU X 79958437 79958437 single base substitution C T intron_variant MELA-AU X 79959235 79959235 single base substitution A T intron_variant MELA-AU X 79960305 79960305 single base substitution C T exon_variant MELA-AU X 79960305 79960305 single base substitution C T missense_variant G865R 2593G>A MELA-AU X 79960771 79960771 single base substitution A T intron_variant MELA-AU X 79960878 79960878 single base substitution C T intron_variant MELA-AU X 79962082 79962082 single base substitution G A intron_variant MELA-AU X 79963634 79963634 single base substitution C A intron_variant MELA-AU X 79963778 79963778 single base substitution C T intron_variant MELA-AU X 79963793 79963793 single base substitution G A intron_variant MELA-AU X 79964208 79964208 single base substitution G A intron_variant MELA-AU X 79964397 79964397 single base substitution T A intron_variant MELA-AU X 79964485 79964485 single base substitution G C intron_variant MELA-AU X 79965934 79965934 single base substitution G A intron_variant MELA-AU X 79966463 79966463 single base substitution G A intron_variant MELA-AU X 79966584 79966584 single base substitution G A intron_variant MELA-AU X 79966925 79966925 single base substitution A G intron_variant MELA-AU X 79967027 79967027 single base substitution C T intron_variant MELA-AU X 79967664 79967664 single base substitution C T downstream_gene_variant MELA-AU X 79967664 79967664 single base substitution C T intron_variant MELA-AU X 79968232 79968232 single base substitution G A downstream_gene_variant MELA-AU X 79968232 79968232 single base substitution G A intron_variant MELA-AU X 79968479 79968479 single base substitution C T downstream_gene_variant MELA-AU X 79968479 79968479 single base substitution C T intron_variant MELA-AU X 79968599 79968599 single base substitution C T downstream_gene_variant MELA-AU X 79968599 79968599 single base substitution C T intron_variant MELA-AU X 79969246 79969246 single base substitution G A downstream_gene_variant MELA-AU X 79969246 79969246 single base substitution G A intron_variant MELA-AU X 79969855 79969855 single base substitution C T downstream_gene_variant MELA-AU X 79969855 79969855 single base substitution C T intron_variant MELA-AU X 79969935 79969935 single base substitution C T downstream_gene_variant MELA-AU X 79969935 79969935 single base substitution C T intron_variant MELA-AU X 79970282 79970282 single base substitution C T downstream_gene_variant MELA-AU X 79970282 79970282 single base substitution C T intron_variant MELA-AU X 79970648 79970648 single base substitution G A downstream_gene_variant MELA-AU X 79970648 79970648 single base substitution G A intron_variant MELA-AU X 79970760 79970760 single base substitution T C downstream_gene_variant MELA-AU X 79970760 79970760 single base substitution T C intron_variant MELA-AU X 79971454 79971454 single base substitution G A downstream_gene_variant MELA-AU X 79971454 79971454 single base substitution G A intron_variant MELA-AU X 79972944 79972944 single base substitution G A exon_variant MELA-AU X 79972944 79972944 single base substitution G A intron_variant MELA-AU X 79973754 79973754 single base substitution A T intron_variant MELA-AU X 79974472 79974472 single base substitution T G intron_variant MELA-AU X 79974752 79974752 single base substitution T A intron_variant MELA-AU X 79975669 79975669 single base substitution C T intron_variant MELA-AU X 79975669 79975669 single base substitution C T upstream_gene_variant MELA-AU X 79975680 79975680 single base substitution G A intron_variant MELA-AU X 79975680 79975680 single base substitution G A upstream_gene_variant MELA-AU X 79975810 79975810 single base substitution C T intron_variant MELA-AU X 79975810 79975810 single base substitution C T upstream_gene_variant MELA-AU X 79975850 79975850 single base substitution G A intron_variant MELA-AU X 79975850 79975850 single base substitution G A upstream_gene_variant MELA-AU X 79977481 79977481 single base substitution G A intron_variant MELA-AU X 79977481 79977481 single base substitution G A upstream_gene_variant MELA-AU X 79977610 79977610 single base substitution G C intron_variant MELA-AU X 79977610 79977610 single base substitution G C upstream_gene_variant MELA-AU X 79977892 79977892 single base substitution G A intron_variant MELA-AU X 79977892 79977892 single base substitution G A upstream_gene_variant MELA-AU X 79978128 79978128 single base substitution C T synonymous_variant R603R 1809G>A MELA-AU X 79978128 79978128 single base substitution C T upstream_gene_variant MELA-AU X 79978578 79978578 single base substitution T A intron_variant MELA-AU X 79978578 79978578 single base substitution T A upstream_gene_variant MELA-AU X 79979534 79979534 single base substitution C T intron_variant MELA-AU X 79979534 79979534 single base substitution C T upstream_gene_variant MELA-AU X 79979906 79979906 single base substitution T C intron_variant MELA-AU X 79979906 79979906 single base substitution T C upstream_gene_variant MELA-AU X 79980604 79980604 single base substitution G A intron_variant MELA-AU X 79980604 79980604 single base substitution G A upstream_gene_variant MELA-AU X 79981082 79981082 single base substitution C T intron_variant MELA-AU X 79981082 79981082 single base substitution C T upstream_gene_variant MELA-AU X 79981624 79981624 single base substitution A G intron_variant MELA-AU X 79981624 79981624 single base substitution A G upstream_gene_variant MELA-AU X 79981652 79981652 single base substitution T A intron_variant MELA-AU X 79981652 79981652 single base substitution T A upstream_gene_variant MELA-AU X 79982273 79982273 single base substitution G A intron_variant MELA-AU X 79982273 79982273 single base substitution G A upstream_gene_variant MELA-AU X 79982706 79982706 single base substitution A G intron_variant MELA-AU X 79982706 79982706 single base substitution A G upstream_gene_variant MELA-AU X 79983791 79983791 insertion of <=200bp - A downstream_gene_variant MELA-AU X 79983791 79983791 insertion of <=200bp - A intron_variant MELA-AU X 79984170 79984170 single base substitution G A downstream_gene_variant MELA-AU X 79984170 79984170 single base substitution G A intron_variant MELA-AU X 79984973 79984973 single base substitution G A downstream_gene_variant MELA-AU X 79984973 79984973 single base substitution G A intron_variant MELA-AU X 79985494 79985494 single base substitution C T downstream_gene_variant MELA-AU X 79985494 79985494 single base substitution C T missense_variant D385N 1153G>A MELA-AU X 79985527 79985527 single base substitution G A downstream_gene_variant MELA-AU X 79985527 79985527 single base substitution G A splice_region_variant MELA-AU X 79986852 79986852 single base substitution G A downstream_gene_variant MELA-AU X 79986852 79986852 single base substitution G A intron_variant MELA-AU X 79987106 79987106 single base substitution C T downstream_gene_variant MELA-AU X 79987106 79987106 single base substitution C T intron_variant MELA-AU X 79987158 79987158 single base substitution C T downstream_gene_variant MELA-AU X 79987158 79987158 single base substitution C T intron_variant MELA-AU X 79987184 79987184 single base substitution G A downstream_gene_variant MELA-AU X 79987184 79987184 single base substitution G A intron_variant MELA-AU X 79987657 79987657 single base substitution C T downstream_gene_variant MELA-AU X 79987657 79987657 single base substitution C T intron_variant MELA-AU X 79987906 79987906 single base substitution G A downstream_gene_variant MELA-AU X 79987906 79987906 single base substitution G A intron_variant MELA-AU X 79988029 79988029 single base substitution G A downstream_gene_variant MELA-AU X 79988029 79988029 single base substitution G A intron_variant MELA-AU X 79988069 79988069 single base substitution G A downstream_gene_variant MELA-AU X 79988069 79988069 single base substitution G A intron_variant MELA-AU X 79988115 79988115 single base substitution G A downstream_gene_variant MELA-AU X 79988115 79988115 single base substitution G A intron_variant MELA-AU X 79988516 79988516 single base substitution C T downstream_gene_variant MELA-AU X 79988516 79988516 single base substitution C T intron_variant MELA-AU X 79988583 79988583 single base substitution C T downstream_gene_variant MELA-AU X 79988583 79988583 single base substitution C T intron_variant MELA-AU X 79988699 79988699 single base substitution A T exon_variant MELA-AU X 79988699 79988699 single base substitution A T intron_variant MELA-AU X 79988862 79988862 single base substitution A T exon_variant MELA-AU X 79988862 79988862 single base substitution A T intron_variant MELA-AU X 79989005 79989005 single base substitution G A intron_variant MELA-AU X 79989559 79989559 single base substitution G A intron_variant MELA-AU X 79989649 79989649 single base substitution G A missense_variant P352S 1054C>T MELA-AU X 79989649 79989649 single base substitution G A upstream_gene_variant MELA-AU X 79989756 79989756 single base substitution G A intron_variant MELA-AU X 79989756 79989756 single base substitution G A upstream_gene_variant MELA-AU X 79990441 79990441 single base substitution G A intron_variant MELA-AU X 79990441 79990441 single base substitution G A upstream_gene_variant MELA-AU X 79991218 79991218 single base substitution G A intron_variant MELA-AU X 79991218 79991218 single base substitution G A upstream_gene_variant MELA-AU X 79991397 79991397 single base substitution T A intron_variant MELA-AU X 79991397 79991397 single base substitution T A upstream_gene_variant MELA-AU X 79992185 79992185 single base substitution G A intron_variant MELA-AU X 79992185 79992185 single base substitution G A upstream_gene_variant MELA-AU X 79992263 79992263 single base substitution G A intron_variant MELA-AU X 79992263 79992263 single base substitution G A upstream_gene_variant MELA-AU X 79992855 79992855 single base substitution A G intron_variant MELA-AU X 79992855 79992855 single base substitution A G upstream_gene_variant MELA-AU X 79993132 79993132 single base substitution G A intron_variant MELA-AU X 79993132 79993132 single base substitution G A upstream_gene_variant MELA-AU X 79993137 79993137 single base substitution G A intron_variant MELA-AU X 79993137 79993137 single base substitution G A upstream_gene_variant MELA-AU X 79993161 79993161 single base substitution C T intron_variant MELA-AU X 79993161 79993161 single base substitution C T upstream_gene_variant MELA-AU X 79993424 79993424 single base substitution A T intron_variant MELA-AU X 79993424 79993424 single base substitution A T upstream_gene_variant MELA-AU X 79993439 79993439 single base substitution G A intron_variant MELA-AU X 79993439 79993439 single base substitution G A upstream_gene_variant MELA-AU X 79993868 79993868 single base substitution G A intron_variant MELA-AU X 79993868 79993868 single base substitution G A upstream_gene_variant MELA-AU X 79994122 79994122 single base substitution G A intron_variant MELA-AU X 79994122 79994122 single base substitution G A upstream_gene_variant MELA-AU X 79994656 79994656 single base substitution T A downstream_gene_variant MELA-AU X 79994656 79994656 single base substitution T A intron_variant MELA-AU X 79995265 79995265 single base substitution G A downstream_gene_variant MELA-AU X 79995265 79995265 single base substitution G A intron_variant MELA-AU X 79995639 79995639 single base substitution G A downstream_gene_variant MELA-AU X 79995639 79995639 single base substitution G A intron_variant MELA-AU X 79995834 79995834 single base substitution C T downstream_gene_variant MELA-AU X 79995834 79995834 single base substitution C T intron_variant MELA-AU X 79996067 79996067 single base substitution G A downstream_gene_variant MELA-AU X 79996067 79996067 single base substitution G A intron_variant MELA-AU X 79996572 79996572 single base substitution C G downstream_gene_variant MELA-AU X 79996572 79996572 single base substitution C G intron_variant MELA-AU X 79999497 79999497 single base substitution A C exon_variant MELA-AU X 79999497 79999497 single base substitution A C intron_variant MELA-AU X 79999511 79999511 single base substitution A T exon_variant MELA-AU X 79999511 79999511 single base substitution A T intron_variant MELA-AU X 79999674 79999674 single base substitution C T exon_variant MELA-AU X 79999674 79999674 single base substitution C T missense_variant E224K 670G>A MELA-AU X 80000081 80000081 single base substitution C T intron_variant MELA-AU X 80000242 80000242 single base substitution A T intron_variant MELA-AU X 80000537 80000537 single base substitution G A intron_variant MELA-AU X 80000584 80000584 single base substitution A T intron_variant MELA-AU X 80000869 80000869 single base substitution C T intron_variant MELA-AU X 80001231 80001231 single base substitution G A splice_region_variant MELA-AU X 80001242 80001242 single base substitution G A intron_variant MELA-AU X 80001560 80001560 single base substitution T C intron_variant MELA-AU X 80001608 80001608 single base substitution A G intron_variant MELA-AU X 80001810 80001810 single base substitution G A intron_variant MELA-AU X 80001861 80001861 single base substitution C G intron_variant MELA-AU X 80002278 80002278 single base substitution A G intron_variant MELA-AU X 80002630 80002630 single base substitution A G intron_variant MELA-AU X 80003004 80003004 single base substitution G A intron_variant MELA-AU X 80003005 80003005 single base substitution G A intron_variant MELA-AU X 80004103 80004103 single base substitution G A intron_variant MELA-AU X 80004727 80004727 single base substitution G A intron_variant MELA-AU X 80005250 80005250 single base substitution C T intron_variant MELA-AU X 80005325 80005325 single base substitution C G intron_variant MELA-AU X 80005431 80005431 single base substitution C T intron_variant MELA-AU X 80005776 80005776 single base substitution G A intron_variant MELA-AU X 80006598 80006598 single base substitution G A intron_variant MELA-AU X 80007142 80007142 single base substitution G A intron_variant MELA-AU X 80007372 80007372 single base substitution C T intron_variant MELA-AU X 80008446 80008446 single base substitution G A intron_variant MELA-AU X 80008461 80008461 single base substitution G T intron_variant MELA-AU X 80008743 80008743 single base substitution T C intron_variant MELA-AU X 80009537 80009537 single base substitution T C intron_variant MELA-AU X 80009725 80009725 single base substitution C T intron_variant MELA-AU X 80009850 80009850 single base substitution T A intron_variant MELA-AU X 80010061 80010061 single base substitution G A intron_variant MELA-AU X 80010214 80010214 single base substitution G A intron_variant MELA-AU X 80010215 80010215 single base substitution G A intron_variant MELA-AU X 80010679 80010679 single base substitution T G intron_variant MELA-AU X 80010720 80010720 single base substitution G A intron_variant MELA-AU X 80011597 80011597 single base substitution C T intron_variant MELA-AU X 80011867 80011868 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU X 80012259 80012260 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU X 80012824 80012824 single base substitution G A intron_variant MELA-AU X 80012961 80012961 single base substitution G A intron_variant MELA-AU X 80012969 80012969 single base substitution A G intron_variant MELA-AU X 80013667 80013667 single base substitution C T intron_variant MELA-AU X 80013686 80013686 single base substitution G A intron_variant MELA-AU X 80014187 80014187 single base substitution C T intron_variant MELA-AU X 80014500 80014500 single base substitution G A intron_variant MELA-AU X 80015041 80015041 single base substitution G A intron_variant MELA-AU X 80015339 80015339 single base substitution G A intron_variant MELA-AU X 80015502 80015502 single base substitution T A intron_variant MELA-AU X 80015654 80015654 single base substitution C T intron_variant MELA-AU X 80016648 80016648 single base substitution C T intron_variant MELA-AU X 80017060 80017060 single base substitution G A intron_variant MELA-AU X 80017204 80017204 single base substitution G A intron_variant MELA-AU X 80017471 80017471 single base substitution A T intron_variant MELA-AU X 80018371 80018371 single base substitution C T intron_variant MELA-AU X 80018542 80018543 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU X 80018778 80018778 single base substitution C T intron_variant MELA-AU X 80018985 80018985 single base substitution C T intron_variant MELA-AU X 80019199 80019200 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU X 80020162 80020162 single base substitution G A intron_variant MELA-AU X 80020183 80020183 single base substitution C T intron_variant MELA-AU X 80020337 80020337 single base substitution A T intron_variant MELA-AU X 80020339 80020339 single base substitution C T intron_variant MELA-AU X 80020643 80020643 single base substitution G A intron_variant MELA-AU X 80020655 80020655 single base substitution C T intron_variant MELA-AU X 80021288 80021288 single base substitution G A intron_variant MELA-AU X 80021753 80021753 single base substitution C G intron_variant MELA-AU X 80021959 80021959 single base substitution G A intron_variant MELA-AU X 80022285 80022285 single base substitution G A intron_variant MELA-AU X 80022338 80022338 single base substitution G A intron_variant MELA-AU X 80022346 80022346 single base substitution C T intron_variant MELA-AU X 80022559 80022559 single base substitution G A intron_variant MELA-AU X 80023593 80023593 single base substitution C T intron_variant MELA-AU X 80023679 80023679 single base substitution C T intron_variant MELA-AU X 80023963 80023963 single base substitution C T intron_variant MELA-AU X 80024268 80024268 single base substitution G A intron_variant MELA-AU X 80025102 80025102 single base substitution G A intron_variant MELA-AU X 80025681 80025681 single base substitution G A intron_variant MELA-AU X 80025840 80025840 single base substitution G A intron_variant MELA-AU X 80026414 80026414 single base substitution A C intron_variant MELA-AU X 80026433 80026433 single base substitution C T intron_variant MELA-AU X 80026738 80026738 single base substitution G A intron_variant MELA-AU X 80026775 80026775 single base substitution A T intron_variant MELA-AU X 80027009 80027009 single base substitution C T intron_variant MELA-AU X 80027331 80027331 single base substitution G A intron_variant MELA-AU X 80027535 80027535 single base substitution C T intron_variant MELA-AU X 80027585 80027585 single base substitution A T intron_variant MELA-AU X 80027941 80027941 single base substitution G A intron_variant MELA-AU X 80027968 80027968 single base substitution C T intron_variant MELA-AU X 80028128 80028128 single base substitution A G intron_variant MELA-AU X 80029226 80029226 single base substitution C T intron_variant MELA-AU X 80030247 80030247 single base substitution A C intron_variant MELA-AU X 80030538 80030538 single base substitution C T intron_variant MELA-AU X 80030609 80030609 single base substitution G A intron_variant MELA-AU X 80030913 80030913 single base substitution G A intron_variant MELA-AU X 80031176 80031176 single base substitution C T intron_variant MELA-AU X 80031435 80031435 single base substitution C T intron_variant MELA-AU X 80032044 80032044 single base substitution G A intron_variant MELA-AU X 80032461 80032461 single base substitution G A intron_variant MELA-AU X 80032482 80032482 single base substitution G A intron_variant MELA-AU X 80032654 80032654 single base substitution G A intron_variant MELA-AU X 80032663 80032663 single base substitution C T intron_variant MELA-AU X 80033179 80033179 single base substitution G A intron_variant MELA-AU X 80033377 80033377 single base substitution C T intron_variant MELA-AU X 80033709 80033709 single base substitution C T intron_variant MELA-AU X 80034247 80034247 single base substitution C A intron_variant MELA-AU X 80034859 80034859 single base substitution G A intron_variant MELA-AU X 80035038 80035038 single base substitution C T intron_variant MELA-AU X 80035168 80035168 single base substitution G A intron_variant MELA-AU X 80035369 80035369 single base substitution C T intron_variant MELA-AU X 80035538 80035538 single base substitution G A intron_variant MELA-AU X 80036475 80036475 single base substitution A C intron_variant MELA-AU X 80036970 80036970 single base substitution G A intron_variant MELA-AU X 80037461 80037461 single base substitution G A intron_variant MELA-AU X 80038041 80038041 single base substitution G A intron_variant MELA-AU X 80038419 80038419 single base substitution T A intron_variant MELA-AU X 80038421 80038421 single base substitution A C intron_variant MELA-AU X 80038549 80038549 single base substitution G A intron_variant MELA-AU X 80039198 80039198 single base substitution A C intron_variant MELA-AU X 80039378 80039378 single base substitution T C intron_variant MELA-AU X 80039762 80039762 single base substitution C A intron_variant MELA-AU X 80039774 80039774 single base substitution C T intron_variant MELA-AU X 80039815 80039815 single base substitution G A intron_variant MELA-AU X 80039976 80039976 single base substitution T C intron_variant MELA-AU X 80040208 80040208 single base substitution G A intron_variant MELA-AU X 80040374 80040374 single base substitution G A intron_variant MELA-AU X 80040617 80040617 single base substitution G A intron_variant MELA-AU X 80040724 80040724 single base substitution G A intron_variant MELA-AU X 80042644 80042644 single base substitution G A intron_variant MELA-AU X 80043484 80043484 single base substitution G A intron_variant MELA-AU X 80043556 80043556 single base substitution C G intron_variant MELA-AU X 80043653 80043653 single base substitution A T intron_variant MELA-AU X 80044490 80044490 single base substitution T C intron_variant MELA-AU X 80044528 80044528 single base substitution A G intron_variant MELA-AU X 80044751 80044751 single base substitution C T intron_variant MELA-AU X 80044941 80044941 single base substitution C T intron_variant MELA-AU X 80045598 80045598 single base substitution C T intron_variant MELA-AU X 80046123 80046123 single base substitution T C intron_variant MELA-AU X 80046928 80046928 single base substitution A T intron_variant MELA-AU X 80047769 80047769 single base substitution G A intron_variant MELA-AU X 80047990 80047990 single base substitution A T intron_variant MELA-AU X 80048321 80048321 single base substitution G A intron_variant MELA-AU X 80048940 80048940 single base substitution A C intron_variant MELA-AU X 80049052 80049052 single base substitution T C intron_variant MELA-AU X 80049314 80049314 single base substitution G A intron_variant MELA-AU X 80049914 80049914 single base substitution G A intron_variant MELA-AU X 80050111 80050111 single base substitution G A intron_variant MELA-AU X 80050432 80050432 single base substitution C T intron_variant MELA-AU X 80050515 80050515 single base substitution C G intron_variant MELA-AU X 80051155 80051155 single base substitution G A intron_variant MELA-AU X 80051906 80051906 single base substitution G A intron_variant MELA-AU X 80052275 80052275 single base substitution C T intron_variant MELA-AU X 80054902 80054902 single base substitution T A intron_variant MELA-AU X 80055097 80055097 single base substitution G A intron_variant MELA-AU X 80055734 80055734 single base substitution C T intron_variant MELA-AU X 80055966 80055966 single base substitution G T intron_variant MELA-AU X 80055979 80055979 single base substitution C T intron_variant MELA-AU X 80057049 80057049 single base substitution G A intron_variant MELA-AU X 80057864 80057864 single base substitution C T intron_variant MELA-AU X 80057990 80057990 single base substitution G A intron_variant MELA-AU X 80058389 80058389 single base substitution G A intron_variant MELA-AU X 80058941 80058941 single base substitution G A intron_variant MELA-AU X 80058963 80058963 single base substitution G A intron_variant MELA-AU X 80059314 80059314 single base substitution C T intron_variant MELA-AU X 80059679 80059679 single base substitution G A intron_variant MELA-AU X 80060720 80060720 single base substitution C A intron_variant MELA-AU X 80060934 80060934 single base substitution A T intron_variant MELA-AU X 80060944 80060944 single base substitution A G intron_variant MELA-AU X 80063400 80063400 single base substitution G A intron_variant MELA-AU X 80064163 80064163 single base substitution C A intron_variant MELA-AU X 80064918 80064918 single base substitution A C intron_variant MELA-AU X 80065538 80065538 single base substitution G A upstream_gene_variant MELA-AU X 80065631 80065631 single base substitution C T upstream_gene_variant MELA-AU X 80065656 80065656 single base substitution T A upstream_gene_variant MELA-AU X 80065888 80065888 single base substitution G A upstream_gene_variant MELA-AU X 80065961 80065961 single base substitution C T upstream_gene_variant MELA-AU X 80066498 80066498 single base substitution C T upstream_gene_variant MELA-AU X 80066859 80066859 single base substitution T C upstream_gene_variant MELA-AU X 80067719 80067719 single base substitution G A upstream_gene_variant MELA-AU X 80067754 80067754 single base substitution G A upstream_gene_variant MELA-AU X 80067783 80067783 single base substitution G C upstream_gene_variant MELA-AU X 80068661 80068661 single base substitution C T upstream_gene_variant MELA-AU X 80069099 80069099 single base substitution G A upstream_gene_variant MELA-AU X 80069442 80069442 single base substitution G C upstream_gene_variant MELA-AU X 80069669 80069669 single base substitution A G upstream_gene_variant MELA-AU X 80069851 80069851 single base substitution C T upstream_gene_variant MELA-AU X 80069852 80069852 single base substitution C T upstream_gene_variant MELA-AU X 80069872 80069872 single base substitution G A upstream_gene_variant ORCA-IN X 79947451 79947451 single base substitution C A exon_variant ORCA-IN X 79947451 79947451 single base substitution C A missense_variant G1118C 3352G>T ORCA-IN X 79993082 79993082 single base substitution T C intron_variant ORCA-IN X 79993082 79993082 single base substitution T C upstream_gene_variant ORCA-IN X 80025552 80025552 single base substitution A C intron_variant ORCA-IN X 80035116 80035116 single base substitution G C intron_variant ORCA-IN X 80037811 80037811 single base substitution G C intron_variant OV-AU X 79924028 79924028 single base substitution T A downstream_gene_variant OV-AU X 79925460 79925460 single base substitution A T downstream_gene_variant OV-AU X 79927293 79927293 single base substitution G C 3_prime_UTR_variant OV-AU X 79927642 79927642 single base substitution C G 3_prime_UTR_variant OV-AU X 79931023 79931023 single base substitution G T 3_prime_UTR_variant OV-AU X 79931023 79931023 single base substitution G T downstream_gene_variant OV-AU X 79934048 79934048 single base substitution C A intron_variant OV-AU X 79934997 79934997 single base substitution G C intron_variant OV-AU X 79943282 79943282 single base substitution A G intron_variant OV-AU X 79944228 79944228 single base substitution A T intron_variant OV-AU X 79949197 79949197 single base substitution G T intron_variant OV-AU X 79950629 79950629 single base substitution C A intron_variant OV-AU X 79953049 79953049 single base substitution C T intron_variant OV-AU X 79955829 79955829 single base substitution G A intron_variant OV-AU X 79955830 79955830 single base substitution G T intron_variant OV-AU X 79956901 79956901 single base substitution A T intron_variant OV-AU X 79957726 79957726 single base substitution A T intron_variant OV-AU X 79957863 79957863 single base substitution G C intron_variant OV-AU X 79957864 79957864 single base substitution G T intron_variant OV-AU X 79960219 79960234 deletion of <=200bp GGACTTCAAATTTTCC - exon_variant OV-AU X 79960219 79960234 deletion of <=200bp GGACTTCAAATTTTCC - frameshift_variant EENLKS888 OV-AU X 79961699 79961699 single base substitution C T intron_variant OV-AU X 79964731 79964731 single base substitution G A intron_variant OV-AU X 79964790 79964790 single base substitution T C intron_variant OV-AU X 79965957 79965957 single base substitution T C intron_variant OV-AU X 79966930 79966930 single base substitution A T intron_variant OV-AU X 79968842 79968842 single base substitution C G downstream_gene_variant OV-AU X 79968842 79968842 single base substitution C G intron_variant OV-AU X 79969625 79969625 single base substitution C A downstream_gene_variant OV-AU X 79969625 79969625 single base substitution C A intron_variant OV-AU X 79981719 79981719 single base substitution A C intron_variant OV-AU X 79981719 79981719 single base substitution A C upstream_gene_variant OV-AU X 79981720 79981720 single base substitution T A intron_variant OV-AU X 79981720 79981720 single base substitution T A upstream_gene_variant OV-AU X 79982329 79982329 single base substitution C G intron_variant OV-AU X 79982329 79982329 single base substitution C G upstream_gene_variant OV-AU X 79983758 79983758 single base substitution T C downstream_gene_variant OV-AU X 79983758 79983758 single base substitution T C intron_variant OV-AU X 79986479 79986479 single base substitution C T downstream_gene_variant OV-AU X 79986479 79986479 single base substitution C T intron_variant OV-AU X 79991773 79991773 single base substitution A G intron_variant OV-AU X 79991773 79991773 single base substitution A G upstream_gene_variant OV-AU X 79999298 79999298 single base substitution C G exon_variant OV-AU X 79999298 79999298 single base substitution C G intron_variant OV-AU X 79999755 79999755 single base substitution A G intron_variant OV-AU X 79999755 79999755 single base substitution A G splice_region_variant OV-AU X 79999819 79999819 single base substitution T C intron_variant OV-AU X 80002681 80002681 single base substitution A T intron_variant OV-AU X 80002733 80002733 single base substitution T A intron_variant OV-AU X 80002785 80002785 single base substitution G A intron_variant OV-AU X 80004502 80004502 single base substitution G A intron_variant OV-AU X 80008418 80008418 single base substitution C A intron_variant OV-AU X 80008687 80008687 single base substitution T A intron_variant OV-AU X 80017219 80017219 single base substitution G T intron_variant OV-AU X 80017463 80017463 single base substitution T G intron_variant OV-AU X 80022091 80022091 single base substitution G C intron_variant OV-AU X 80031637 80031637 single base substitution T G intron_variant OV-AU X 80034898 80034898 single base substitution G C intron_variant OV-AU X 80039931 80039931 single base substitution G T intron_variant OV-AU X 80040122 80040122 single base substitution G T intron_variant OV-AU X 80045119 80045119 single base substitution C T intron_variant OV-AU X 80057758 80057758 single base substitution C T intron_variant OV-AU X 80066714 80066714 single base substitution C A upstream_gene_variant OV-AU X 80069749 80069749 single base substitution C T upstream_gene_variant OV-US X 79936995 79936995 single base substitution G C exon_variant OV-US X 79936995 79936995 single base substitution G C stop_gained S1500* 4499C>G PACA-AU X 79926832 79926832 insertion of <=200bp - A 3_prime_UTR_variant PACA-AU X 79927333 79927333 single base substitution C T 3_prime_UTR_variant PACA-AU X 79945696 79945696 single base substitution G T intron_variant PACA-AU X 79946344 79946344 single base substitution C A intron_variant PACA-AU X 79948244 79948244 single base substitution G A intron_variant PACA-AU X 79948914 79948914 deletion of <=200bp C - intron_variant PACA-AU X 79954722 79954722 single base substitution T A intron_variant PACA-AU X 79961743 79961743 single base substitution G C intron_variant PACA-AU X 79968406 79968406 single base substitution G A downstream_gene_variant PACA-AU X 79968406 79968406 single base substitution G A intron_variant PACA-AU X 79974376 79974376 single base substitution C T intron_variant PACA-AU X 79981390 79981390 single base substitution A G intron_variant PACA-AU X 79981390 79981390 single base substitution A G upstream_gene_variant PACA-AU X 79981639 79981639 single base substitution T C intron_variant PACA-AU X 79981639 79981639 single base substitution T C upstream_gene_variant PACA-AU X 79982012 79982012 single base substitution C A intron_variant PACA-AU X 79982012 79982012 single base substitution C A upstream_gene_variant PACA-AU X 79983986 79983986 insertion of <=200bp - T downstream_gene_variant PACA-AU X 79983986 79983986 insertion of <=200bp - T intron_variant PACA-AU X 79999756 79999756 single base substitution T G intron_variant PACA-AU X 79999756 79999756 single base substitution T G splice_region_variant PACA-AU X 79999797 79999797 insertion of <=200bp - CAC intron_variant PACA-AU X 80002503 80002503 single base substitution G C intron_variant PACA-AU X 80002694 80002694 single base substitution T G intron_variant PACA-AU X 80003109 80003109 single base substitution A G intron_variant PACA-AU X 80014271 80014271 single base substitution G A intron_variant PACA-AU X 80014317 80014317 single base substitution C T intron_variant PACA-AU X 80019588 80019588 single base substitution G T intron_variant PACA-AU X 80021644 80021644 single base substitution A G intron_variant PACA-AU X 80021737 80021737 single base substitution C A intron_variant PACA-AU X 80022102 80022102 single base substitution G T intron_variant PACA-AU X 80023378 80023378 single base substitution A C intron_variant PACA-AU X 80024128 80024128 single base substitution C A intron_variant PACA-AU X 80024268 80024268 single base substitution G T intron_variant PACA-AU X 80027761 80027761 single base substitution T C intron_variant PACA-AU X 80036446 80036446 single base substitution A T intron_variant PACA-AU X 80036870 80036870 single base substitution C T intron_variant PACA-AU X 80037155 80037155 single base substitution G T intron_variant PACA-AU X 80044268 80044268 single base substitution G A intron_variant PACA-AU X 80044834 80044834 single base substitution G A intron_variant PACA-AU X 80045600 80045600 single base substitution C T intron_variant PACA-AU X 80046898 80046898 single base substitution G T intron_variant PACA-AU X 80048209 80048209 single base substitution T A intron_variant PACA-AU X 80050297 80050297 insertion of <=200bp - A intron_variant PACA-AU X 80057361 80057361 single base substitution A T intron_variant PACA-AU X 80058532 80058532 single base substitution C T intron_variant PACA-AU X 80061482 80061482 single base substitution C T intron_variant PACA-AU X 80069518 80069518 single base substitution G C upstream_gene_variant PACA-CA X 79923572 79923572 single base substitution C T downstream_gene_variant PACA-CA X 79924061 79924061 single base substitution C G downstream_gene_variant PACA-CA X 79924802 79924802 single base substitution C T downstream_gene_variant PACA-CA X 79927093 79927093 single base substitution G A 3_prime_UTR_variant PACA-CA X 79930201 79930201 single base substitution A C 3_prime_UTR_variant PACA-CA X 79930201 79930201 single base substitution A C downstream_gene_variant PACA-CA X 79931495 79931495 single base substitution C A 3_prime_UTR_variant PACA-CA X 79931495 79931495 single base substitution C A downstream_gene_variant PACA-CA X 79935335 79935335 single base substitution G A intron_variant PACA-CA X 79940237 79940237 single base substitution G A intron_variant PACA-CA X 79940418 79940418 single base substitution T C intron_variant PACA-CA X 79941964 79941965 deletion of <=200bp AA - intron_variant PACA-CA X 79942597 79942597 insertion of <=200bp - TA intron_variant PACA-CA X 79945424 79945424 single base substitution A C intron_variant PACA-CA X 79945522 79945522 single base substitution G C exon_variant PACA-CA X 79945522 79945522 single base substitution G C missense_variant D1224E 3672C>G PACA-CA X 79947371 79947371 single base substitution G A exon_variant PACA-CA X 79947371 79947371 single base substitution G A synonymous_variant D1144D 3432C>T PACA-CA X 79947776 79947789 deletion of <=200bp ACAACTCCGGTTAC - intron_variant PACA-CA X 79950013 79950013 single base substitution C T intron_variant PACA-CA X 79950526 79950526 single base substitution G T intron_variant PACA-CA X 79953375 79953375 single base substitution A T intron_variant PACA-CA X 79955202 79955202 single base substitution A G intron_variant PACA-CA X 79955249 79955249 single base substitution A C intron_variant PACA-CA X 79963950 79963950 single base substitution C T intron_variant PACA-CA X 79966427 79966427 single base substitution C T intron_variant PACA-CA X 79966596 79966596 single base substitution A G intron_variant PACA-CA X 79970440 79970440 single base substitution A T downstream_gene_variant PACA-CA X 79970440 79970440 single base substitution A T intron_variant PACA-CA X 79973336 79973336 single base substitution C G intron_variant PACA-CA X 79974019 79974019 single base substitution T A intron_variant PACA-CA X 79976558 79976558 single base substitution C T intron_variant PACA-CA X 79976558 79976558 single base substitution C T upstream_gene_variant PACA-CA X 79976877 79976877 single base substitution A T intron_variant PACA-CA X 79976877 79976877 single base substitution A T upstream_gene_variant PACA-CA X 79978778 79978778 single base substitution A C intron_variant PACA-CA X 79978778 79978778 single base substitution A C upstream_gene_variant PACA-CA X 79980864 79980864 single base substitution T A intron_variant PACA-CA X 79980864 79980864 single base substitution T A upstream_gene_variant PACA-CA X 79981079 79981079 single base substitution T C intron_variant PACA-CA X 79981079 79981079 single base substitution T C upstream_gene_variant PACA-CA X 79988847 79988847 single base substitution A C exon_variant PACA-CA X 79988847 79988847 single base substitution A C intron_variant PACA-CA X 79990800 79990800 insertion of <=200bp - A intron_variant PACA-CA X 79990800 79990800 insertion of <=200bp - A upstream_gene_variant PACA-CA X 79991099 79991099 single base substitution C T intron_variant PACA-CA X 79991099 79991099 single base substitution C T upstream_gene_variant PACA-CA X 79991922 79991922 single base substitution T G intron_variant PACA-CA X 79991922 79991922 single base substitution T G upstream_gene_variant PACA-CA X 79992975 79992975 single base substitution G A intron_variant PACA-CA X 79992975 79992975 single base substitution G A upstream_gene_variant PACA-CA X 79993146 79993146 single base substitution C T intron_variant PACA-CA X 79993146 79993146 single base substitution C T upstream_gene_variant PACA-CA X 79995105 79995105 single base substitution T C downstream_gene_variant PACA-CA X 79995105 79995105 single base substitution T C intron_variant PACA-CA X 79997910 79997910 single base substitution T C downstream_gene_variant PACA-CA X 79997910 79997910 single base substitution T C intron_variant PACA-CA X 80001125 80001125 single base substitution C A exon_variant PACA-CA X 80001125 80001125 single base substitution C A synonymous_variant G178G 534G>T PACA-CA X 80004360 80004360 single base substitution T G intron_variant PACA-CA X 80007528 80007528 insertion of <=200bp - A intron_variant PACA-CA X 80007529 80007529 insertion of <=200bp - TA intron_variant PACA-CA X 80010339 80010339 single base substitution C G intron_variant PACA-CA X 80011860 80011860 single base substitution G T intron_variant PACA-CA X 80017236 80017236 single base substitution C T intron_variant PACA-CA X 80017396 80017396 single base substitution A G intron_variant PACA-CA X 80017965 80017965 single base substitution T A intron_variant PACA-CA X 80022292 80022292 single base substitution G A intron_variant PACA-CA X 80022731 80022731 single base substitution G A intron_variant PACA-CA X 80024461 80024461 single base substitution C A intron_variant PACA-CA X 80027028 80027028 single base substitution G A intron_variant PACA-CA X 80028184 80028184 insertion of <=200bp - A intron_variant PACA-CA X 80030302 80030302 single base substitution C G intron_variant PACA-CA X 80035562 80035562 insertion of <=200bp - T intron_variant PACA-CA X 80037681 80037681 single base substitution G C intron_variant PACA-CA X 80038624 80038624 single base substitution C A intron_variant PACA-CA X 80039887 80039887 insertion of <=200bp - T intron_variant PACA-CA X 80042328 80042328 single base substitution T A intron_variant PACA-CA X 80043787 80043787 single base substitution G A intron_variant PACA-CA X 80047485 80047485 single base substitution G A intron_variant PACA-CA X 80051467 80051467 single base substitution C T intron_variant PACA-CA X 80053077 80053077 single base substitution A G intron_variant PACA-CA X 80055303 80055303 single base substitution A C intron_variant PACA-CA X 80055852 80055852 deletion of <=200bp A - intron_variant PACA-CA X 80057809 80057809 single base substitution C T intron_variant PACA-CA X 80059888 80059888 single base substitution T A intron_variant PACA-CA X 80061513 80061513 single base substitution T C intron_variant PACA-CA X 80064014 80064014 single base substitution A G intron_variant PACA-CA X 80064110 80064110 single base substitution C T intron_variant PACA-CA X 80066671 80066671 single base substitution G A upstream_gene_variant PACA-CA X 80068652 80068652 single base substitution C A upstream_gene_variant PACA-CA X 80068720 80068720 single base substitution A T upstream_gene_variant PACA-CA X 80069110 80069110 single base substitution G A upstream_gene_variant PAEN-AU X 79928777 79928777 single base substitution G A 3_prime_UTR_variant PAEN-AU X 79928777 79928777 single base substitution G A downstream_gene_variant PAEN-AU X 79954173 79954173 single base substitution A C intron_variant PAEN-AU X 80011909 80011909 single base substitution G A intron_variant PAEN-AU X 80033535 80033535 insertion of <=200bp - T intron_variant PAEN-IT X 79956919 79956919 single base substitution C T intron_variant PAEN-IT X 79964930 79964930 single base substitution T A exon_variant PAEN-IT X 79964930 79964930 single base substitution T A synonymous_variant S824S 2472A>T PAEN-IT X 79965183 79965183 single base substitution A G intron_variant PAEN-IT X 80060893 80060893 single base substitution G C intron_variant PBCA-DE X 79929566 79929566 single base substitution T A 3_prime_UTR_variant PBCA-DE X 79929566 79929566 single base substitution T A downstream_gene_variant PBCA-DE X 79956446 79956446 single base substitution T C intron_variant PBCA-DE X 79957131 79957131 single base substitution C A intron_variant PBCA-DE X 79965632 79965632 deletion of <=200bp C - intron_variant PBCA-DE X 79967166 79967166 single base substitution G A intron_variant PBCA-DE X 79968206 79968213 deletion of <=200bp CGCCTCTT - downstream_gene_variant PBCA-DE X 79968206 79968213 deletion of <=200bp CGCCTCTT - intron_variant PBCA-DE X 79975979 79975979 insertion of <=200bp - C intron_variant PBCA-DE X 79975979 79975979 insertion of <=200bp - C upstream_gene_variant PBCA-DE X 79981828 79981828 single base substitution T C intron_variant PBCA-DE X 79981828 79981828 single base substitution T C upstream_gene_variant PBCA-DE X 79984301 79984301 single base substitution G A downstream_gene_variant PBCA-DE X 79984301 79984301 single base substitution G A missense_variant L446F 1336C>T PBCA-DE X 79997909 79997909 insertion of <=200bp - GTATGAACTTTAAA downstream_gene_variant PBCA-DE X 79997909 79997909 insertion of <=200bp - GTATGAACTTTAAA intron_variant PBCA-DE X 80016526 80016527 deletion of <=200bp AC - intron_variant PBCA-DE X 80016698 80016698 single base substitution T C intron_variant PBCA-DE X 80017583 80017583 single base substitution G A intron_variant PBCA-DE X 80020821 80020821 single base substitution A G intron_variant PBCA-DE X 80025278 80025278 single base substitution C A intron_variant PBCA-DE X 80041257 80041257 single base substitution T A intron_variant PBCA-DE X 80044874 80044874 deletion of <=200bp T - intron_variant PBCA-DE X 80050040 80050040 single base substitution C A intron_variant PBCA-DE X 80054147 80054147 single base substitution T A intron_variant PBCA-DE X 80055015 80055015 single base substitution T C intron_variant PBCA-DE X 80059629 80059629 single base substitution C G intron_variant PBCA-DE X 80069525 80069525 single base substitution C T upstream_gene_variant PRAD-CA X 79939694 79939694 single base substitution T C intron_variant PRAD-CA X 79971754 79971754 single base substitution T C downstream_gene_variant PRAD-CA X 79971754 79971754 single base substitution T C splice_region_variant PRAD-CA X 79975050 79975050 single base substitution C G exon_variant PRAD-CA X 79975050 79975050 single base substitution C G missense_variant R661T 1982G>C PRAD-CA X 80022476 80022476 single base substitution C A intron_variant PRAD-CA X 80043083 80043083 single base substitution A T intron_variant PRAD-UK X 79964581 79964581 single base substitution G A intron_variant PRAD-UK X 79978832 79978832 single base substitution C A intron_variant PRAD-UK X 79978832 79978832 single base substitution C A upstream_gene_variant PRAD-UK X 79999288 79999288 single base substitution A T exon_variant PRAD-UK X 79999288 79999288 single base substitution A T intron_variant PRAD-UK X 80021300 80021300 single base substitution T C intron_variant PRAD-UK X 80021337 80021337 single base substitution G T intron_variant PRAD-UK X 80046684 80046684 single base substitution T A intron_variant PRAD-UK X 80047866 80047866 single base substitution T A intron_variant PRAD-UK X 80068361 80068361 single base substitution A G upstream_gene_variant PRAD-US X 79942411 79942411 single base substitution C A exon_variant PRAD-US X 79942411 79942411 single base substitution C A missense_variant R1319L 3956G>T READ-US X 79939572 79939572 single base substitution A C intron_variant READ-US X 79939572 79939572 single base substitution A C missense_variant F1390L 4170T>G READ-US X 79999707 79999707 single base substitution G A exon_variant READ-US X 79999707 79999707 single base substitution G A missense_variant R213C 637C>T RECA-EU X 79976931 79976931 single base substitution C A intron_variant RECA-EU X 79976931 79976931 single base substitution C A upstream_gene_variant RECA-EU X 79981251 79981251 single base substitution A G intron_variant RECA-EU X 79981251 79981251 single base substitution A G upstream_gene_variant RECA-EU X 80008317 80008317 single base substitution C A intron_variant RECA-EU X 80033677 80033677 single base substitution T C intron_variant RECA-EU X 80037107 80037107 single base substitution C T intron_variant RECA-EU X 80043158 80043158 single base substitution T A intron_variant RECA-EU X 80067364 80067364 single base substitution G A upstream_gene_variant SKCA-BR X 79925988 79925988 single base substitution C A downstream_gene_variant SKCA-BR X 79931790 79931790 single base substitution C T 3_prime_UTR_variant SKCA-BR X 79931790 79931790 single base substitution C T downstream_gene_variant SKCA-BR X 79932070 79932070 single base substitution C T 3_prime_UTR_variant SKCA-BR X 79932070 79932070 single base substitution C T downstream_gene_variant SKCA-BR X 79932481 79932481 single base substitution C T downstream_gene_variant SKCA-BR X 79932481 79932481 single base substitution C T stop_gained W1679* 5036G>A SKCA-BR X 79933560 79933560 single base substitution G A intron_variant SKCA-BR X 79938409 79938409 insertion of <=200bp - CA intron_variant SKCA-BR X 79939539 79939539 single base substitution G A intron_variant SKCA-BR X 79939539 79939539 single base substitution G A synonymous_variant S1401S 4203C>T SKCA-BR X 79940143 79940146 deletion of <=200bp CCTT - intron_variant SKCA-BR X 79949864 79949864 single base substitution G A intron_variant SKCA-BR X 79955699 79955699 single base substitution G A intron_variant SKCA-BR X 79956000 79956000 single base substitution T A intron_variant SKCA-BR X 79956010 79956010 single base substitution T G intron_variant SKCA-BR X 79960657 79960657 single base substitution C T intron_variant SKCA-BR X 79962875 79962875 single base substitution C T intron_variant SKCA-BR X 79963916 79963916 single base substitution T G intron_variant SKCA-BR X 79967649 79967649 single base substitution G A downstream_gene_variant SKCA-BR X 79967649 79967649 single base substitution G A intron_variant SKCA-BR X 79968108 79968108 single base substitution C T downstream_gene_variant SKCA-BR X 79968108 79968108 single base substitution C T intron_variant SKCA-BR X 79970711 79970711 insertion of <=200bp - TA downstream_gene_variant SKCA-BR X 79970711 79970711 insertion of <=200bp - TA intron_variant SKCA-BR X 79975745 79975745 single base substitution G T intron_variant SKCA-BR X 79975745 79975745 single base substitution G T upstream_gene_variant SKCA-BR X 79978085 79978085 single base substitution G A missense_variant P618S 1852C>T SKCA-BR X 79978085 79978085 single base substitution G A upstream_gene_variant SKCA-BR X 79980530 79980530 single base substitution G A missense_variant P475S 1423C>T SKCA-BR X 79980530 79980530 single base substitution G A upstream_gene_variant SKCA-BR X 79981251 79981251 single base substitution A G intron_variant SKCA-BR X 79981251 79981251 single base substitution A G upstream_gene_variant SKCA-BR X 79983216 79983216 single base substitution T C intron_variant SKCA-BR X 79987490 79987490 single base substitution C T downstream_gene_variant SKCA-BR X 79987490 79987490 single base substitution C T intron_variant SKCA-BR X 79987877 79987877 single base substitution G A downstream_gene_variant SKCA-BR X 79987877 79987877 single base substitution G A intron_variant SKCA-BR X 79989018 79989018 single base substitution C G intron_variant SKCA-BR X 79989094 79989094 insertion of <=200bp - GT intron_variant SKCA-BR X 79990728 79990728 single base substitution C T intron_variant SKCA-BR X 79990728 79990728 single base substitution C T upstream_gene_variant SKCA-BR X 79994839 79994839 single base substitution T G downstream_gene_variant SKCA-BR X 79994839 79994839 single base substitution T G intron_variant SKCA-BR X 79995567 79995567 single base substitution G A downstream_gene_variant SKCA-BR X 79995567 79995567 single base substitution G A intron_variant SKCA-BR X 79997566 79997566 single base substitution C T downstream_gene_variant SKCA-BR X 79997566 79997566 single base substitution C T intron_variant SKCA-BR X 79998837 79998837 single base substitution G A downstream_gene_variant SKCA-BR X 79998837 79998837 single base substitution G A intron_variant SKCA-BR X 79999023 79999023 single base substitution C T downstream_gene_variant SKCA-BR X 79999023 79999023 single base substitution C T intron_variant SKCA-BR X 80000876 80000876 single base substitution G A intron_variant SKCA-BR X 80001581 80001581 single base substitution C A intron_variant SKCA-BR X 80002369 80002369 single base substitution G A intron_variant SKCA-BR X 80002501 80002501 single base substitution G T intron_variant SKCA-BR X 80006090 80006090 single base substitution G A intron_variant SKCA-BR X 80013792 80013792 single base substitution C T intron_variant SKCA-BR X 80020161 80020161 single base substitution G A intron_variant SKCA-BR X 80020815 80020815 single base substitution C T intron_variant SKCA-BR X 80021960 80021960 single base substitution G A intron_variant SKCA-BR X 80025724 80025724 single base substitution G C intron_variant SKCA-BR X 80027016 80027016 single base substitution A T intron_variant SKCA-BR X 80029449 80029449 single base substitution C A intron_variant SKCA-BR X 80034453 80034453 single base substitution G A intron_variant SKCA-BR X 80035129 80035129 single base substitution T C intron_variant SKCA-BR X 80036338 80036338 single base substitution C T intron_variant SKCA-BR X 80037270 80037271 deletion of <=200bp TA - intron_variant SKCA-BR X 80039815 80039815 single base substitution G A intron_variant SKCA-BR X 80040617 80040617 single base substitution G A intron_variant SKCA-BR X 80043584 80043596 deletion of <=200bp AAAATAAATAAAT - intron_variant SKCA-BR X 80043685 80043685 single base substitution C T intron_variant SKCA-BR X 80044148 80044148 single base substitution G A intron_variant SKCA-BR X 80045320 80045320 insertion of <=200bp - CT intron_variant SKCA-BR X 80047316 80047316 single base substitution C T intron_variant SKCA-BR X 80050013 80050013 single base substitution A C intron_variant SKCA-BR X 80050125 80050125 single base substitution T C intron_variant SKCA-BR X 80057764 80057764 single base substitution A T intron_variant SKCA-BR X 80058597 80058628 deletion of <=200bp TCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAA - intron_variant SKCA-BR X 80058940 80058940 single base substitution G T intron_variant SKCA-BR X 80064826 80064826 single base substitution G A intron_variant SKCA-BR X 80068419 80068419 single base substitution A C upstream_gene_variant SKCM-US X 79932388 79932388 single base substitution C T downstream_gene_variant SKCM-US X 79932388 79932388 single base substitution C T missense_variant G1710E 5129G>A SKCM-US X 79932528 79932528 single base substitution T C downstream_gene_variant SKCM-US X 79932528 79932528 single base substitution T C synonymous_variant R1663R 4989A>G SKCM-US X 79932599 79932599 single base substitution G A downstream_gene_variant SKCM-US X 79932599 79932599 single base substitution G A missense_variant H1640Y 4918C>T SKCM-US X 79932655 79932655 single base substitution G A downstream_gene_variant SKCM-US X 79932655 79932655 single base substitution G A missense_variant S1621F 4862C>T SKCM-US X 79936924 79936924 single base substitution A G exon_variant SKCM-US X 79936924 79936924 single base substitution A G missense_variant F1524L 4570T>C SKCM-US X 79936966 79936966 single base substitution G A exon_variant SKCM-US X 79936966 79936966 single base substitution G A synonymous_variant L1510L 4528C>T SKCM-US X 79937548 79937548 single base substitution G A exon_variant SKCM-US X 79937548 79937548 single base substitution G A synonymous_variant D1481D 4443C>T SKCM-US X 79939559 79939559 single base substitution G A intron_variant SKCM-US X 79939559 79939559 single base substitution G A missense_variant R1395C 4183C>T SKCM-US X 79939655 79939655 single base substitution G A exon_variant SKCM-US X 79939655 79939655 single base substitution G A stop_gained Q1363* 4087C>T SKCM-US X 79942376 79942376 single base substitution G A exon_variant SKCM-US X 79942376 79942376 single base substitution G A missense_variant L1331F 3991C>T SKCM-US X 79942453 79942453 single base substitution C A exon_variant SKCM-US X 79942453 79942453 single base substitution C A missense_variant W1305L 3914G>T SKCM-US X 79943581 79943581 single base substitution G A exon_variant SKCM-US X 79943581 79943581 single base substitution G A missense_variant S1284L 3851C>T SKCM-US X 79945341 79945341 single base substitution G A exon_variant SKCM-US X 79945341 79945341 single base substitution G A stop_gained Q1245* 3733C>T SKCM-US X 79945479 79945479 single base substitution G A exon_variant SKCM-US X 79945479 79945479 single base substitution G A missense_variant L1239F 3715C>T SKCM-US X 79947370 79947370 single base substitution C T exon_variant SKCM-US X 79947370 79947370 single base substitution C T missense_variant E1145K 3433G>A SKCM-US X 79947391 79947391 single base substitution A C exon_variant SKCM-US X 79947391 79947391 single base substitution A C missense_variant W1138G 3412T>G SKCM-US X 79947403 79947403 single base substitution G A exon_variant SKCM-US X 79947403 79947403 single base substitution G A stop_gained Q1134* 3400C>T SKCM-US X 79948455 79948455 single base substitution G A exon_variant SKCM-US X 79948455 79948455 single base substitution G A stop_gained Q1083* 3247C>T SKCM-US X 79960305 79960305 single base substitution C T exon_variant SKCM-US X 79960305 79960305 single base substitution C T missense_variant G865R 2593G>A SKCM-US X 79964984 79964984 single base substitution A T exon_variant SKCM-US X 79964984 79964984 single base substitution A T missense_variant N806K 2418T>A SKCM-US X 79978134 79978134 single base substitution G A synonymous_variant F601F 1803C>T SKCM-US X 79978134 79978134 single base substitution G A upstream_gene_variant SKCM-US X 79978253 79978253 single base substitution G A missense_variant R562C 1684C>T SKCM-US X 79978253 79978253 single base substitution G A upstream_gene_variant SKCM-US X 79978275 79978275 single base substitution C T synonymous_variant Q554Q 1662G>A SKCM-US X 79978275 79978275 single base substitution C T upstream_gene_variant SKCM-US X 79980524 79980524 single base substitution C T missense_variant D477N 1429G>A SKCM-US X 79980524 79980524 single base substitution C T upstream_gene_variant SKCM-US X 79980546 79980546 single base substitution G A synonymous_variant F469F 1407C>T SKCM-US X 79980546 79980546 single base substitution G A upstream_gene_variant SKCM-US X 79984278 79984278 single base substitution G A downstream_gene_variant SKCM-US X 79984278 79984278 single base substitution G A synonymous_variant I453I 1359C>T SKCM-US X 79985494 79985494 single base substitution C T downstream_gene_variant SKCM-US X 79985494 79985494 single base substitution C T missense_variant D385N 1153G>A SKCM-US X 79999689 79999689 single base substitution G A exon_variant SKCM-US X 79999689 79999689 single base substitution G A missense_variant R219C 655C>T STAD-US X 79932138 79932138 single base substitution C T downstream_gene_variant STAD-US X 79932138 79932138 single base substitution C T synonymous_variant R1793R 5379G>A STAD-US X 79932589 79932589 single base substitution C T downstream_gene_variant STAD-US X 79932589 79932589 single base substitution C T missense_variant S1643N 4928G>A STAD-US X 79939565 79939565 single base substitution C A intron_variant STAD-US X 79939565 79939565 single base substitution C A missense_variant D1393Y 4177G>T STAD-US X 79942445 79942445 insertion of <=200bp - T exon_variant STAD-US X 79942445 79942445 insertion of <=200bp - T frameshift_variant Q1308Q? STAD-US X 79942446 79942446 insertion of <=200bp - T exon_variant STAD-US X 79942446 79942446 insertion of <=200bp - T frameshift_variant K1307K? STAD-US X 79943586 79943586 single base substitution A G exon_variant STAD-US X 79943586 79943586 single base substitution A G synonymous_variant G1282G 3846T>C STAD-US X 79948491 79948491 single base substitution G A exon_variant STAD-US X 79948491 79948491 single base substitution G A stop_gained Q1071* 3211C>T STAD-US X 79951476 79951476 single base substitution G A exon_variant STAD-US X 79951476 79951476 single base substitution G A missense_variant P1028S 3082C>T STAD-US X 79955467 79955467 single base substitution T A exon_variant STAD-US X 79955467 79955467 single base substitution T A missense_variant M978L 2932A>T STAD-US X 79962956 79962956 single base substitution A G exon_variant STAD-US X 79962956 79962956 single base substitution A G missense_variant V841A 2522T>C STAD-US X 79965051 79965051 single base substitution C T exon_variant STAD-US X 79965051 79965051 single base substitution C T missense_variant R784H 2351G>A STAD-US X 79975125 79975125 single base substitution C T exon_variant STAD-US X 79975125 79975125 single base substitution C T missense_variant G636E 1907G>A STAD-US X 79975125 79975125 single base substitution C T upstream_gene_variant STAD-US X 79978130 79978130 single base substitution G A missense_variant R603W 1807C>T STAD-US X 79978130 79978130 single base substitution G A upstream_gene_variant STAD-US X 79978164 79978164 single base substitution A T missense_variant D591E 1773T>A STAD-US X 79978164 79978164 single base substitution A T upstream_gene_variant STAD-US X 79978170 79978170 insertion of <=200bp - A frameshift_variant L589L? STAD-US X 79978170 79978170 insertion of <=200bp - A upstream_gene_variant STAD-US X 79978171 79978171 insertion of <=200bp - A frameshift_variant L589F? STAD-US X 79978171 79978171 insertion of <=200bp - A upstream_gene_variant STAD-US X 79978259 79978259 single base substitution C T missense_variant D560N 1678G>A STAD-US X 79978259 79978259 single base substitution C T upstream_gene_variant STAD-US X 79980463 79980463 single base substitution C T missense_variant R497Q 1490G>A STAD-US X 79980463 79980463 single base substitution C T upstream_gene_variant STAD-US X 80001091 80001091 single base substitution G A exon_variant STAD-US X 80001091 80001091 single base substitution G A stop_gained R190* 568C>T UCEC-US X 79932302 79932302 single base substitution C A downstream_gene_variant UCEC-US X 79932302 79932302 single base substitution C A stop_gained G1739* 5215G>T UCEC-US X 79932480 79932480 single base substitution C T downstream_gene_variant UCEC-US X 79932480 79932480 single base substitution C T stop_gained W1679* 5037G>A UCEC-US X 79932558 79932558 single base substitution T A downstream_gene_variant UCEC-US X 79932558 79932558 single base substitution T A missense_variant K1653N 4959A>T UCEC-US X 79932612 79932612 single base substitution G A downstream_gene_variant UCEC-US X 79932612 79932612 single base substitution G A synonymous_variant Y1635Y 4905C>T UCEC-US X 79932716 79932716 single base substitution A C downstream_gene_variant UCEC-US X 79932716 79932716 single base substitution A C missense_variant L1601V 4801T>G UCEC-US X 79932848 79932848 single base substitution C A exon_variant UCEC-US X 79932848 79932848 single base substitution C A stop_gained G1557* 4669G>T UCEC-US X 79936860 79936860 single base substitution C A exon_variant UCEC-US X 79936860 79936860 single base substitution C A missense_variant R1545I 4634G>T UCEC-US X 79936867 79936867 single base substitution G A exon_variant UCEC-US X 79936867 79936867 single base substitution G A missense_variant R1543W 4627C>T UCEC-US X 79937997 79937997 single base substitution C T exon_variant UCEC-US X 79937997 79937997 single base substitution C T missense_variant S1455N 4364G>A UCEC-US X 79938047 79938047 single base substitution G A exon_variant UCEC-US X 79938047 79938047 single base substitution G A synonymous_variant I1438I 4314C>T UCEC-US X 79938120 79938120 single base substitution C A exon_variant UCEC-US X 79938120 79938120 single base substitution C A missense_variant S1414I 4241G>T UCEC-US X 79942391 79942391 single base substitution G A exon_variant UCEC-US X 79942391 79942391 single base substitution G A stop_gained R1326* 3976C>T UCEC-US X 79945290 79945290 single base substitution G A exon_variant UCEC-US X 79945290 79945290 single base substitution G A stop_gained R1262* 3784C>T UCEC-US X 79945465 79945465 single base substitution C T splice_donor_variant UCEC-US X 79945475 79945475 single base substitution C T exon_variant UCEC-US X 79945475 79945475 single base substitution C T missense_variant R1240Q 3719G>A UCEC-US X 79945584 79945584 single base substitution A G exon_variant UCEC-US X 79945584 79945584 single base substitution A G missense_variant S1204P 3610T>C UCEC-US X 79947444 79947444 single base substitution G T exon_variant UCEC-US X 79947444 79947444 single base substitution G T missense_variant P1120H 3359C>A UCEC-US X 79947594 79947594 single base substitution C A exon_variant UCEC-US X 79947594 79947594 single base substitution C A stop_gained E1107* 3319G>T UCEC-US X 79947636 79947636 single base substitution C A exon_variant UCEC-US X 79947636 79947636 single base substitution C A stop_gained E1093* 3277G>T UCEC-US X 79948476 79948476 single base substitution C T exon_variant UCEC-US X 79948476 79948476 single base substitution C T missense_variant E1076K 3226G>A UCEC-US X 79948521 79948521 single base substitution C T exon_variant UCEC-US X 79948521 79948521 single base substitution C T missense_variant A1061T 3181G>A UCEC-US X 79952254 79952254 single base substitution C A exon_variant UCEC-US X 79952254 79952254 single base substitution C A stop_gained E1018* 3052G>T UCEC-US X 79952303 79952303 single base substitution G A exon_variant UCEC-US X 79952303 79952303 single base substitution G A synonymous_variant C1001C 3003C>T UCEC-US X 79955511 79955511 single base substitution G A exon_variant UCEC-US X 79955511 79955511 single base substitution G A missense_variant S963L 2888C>T UCEC-US X 79960225 79960225 single base substitution C A exon_variant UCEC-US X 79960225 79960225 single base substitution C A missense_variant L891F 2673G>T UCEC-US X 79965030 79965030 single base substitution C T exon_variant UCEC-US X 79965030 79965030 single base substitution C T missense_variant R791H 2372G>A UCEC-US X 79973127 79973127 single base substitution G T exon_variant UCEC-US X 79973127 79973127 single base substitution G T missense_variant L726I 2176C>A UCEC-US X 79973250 79973250 single base substitution T G exon_variant UCEC-US X 79973250 79973250 single base substitution T G missense_variant S685R 2053A>C UCEC-US X 79975093 79975093 single base substitution G T exon_variant UCEC-US X 79975093 79975093 single base substitution G T missense_variant L647I 1939C>A UCEC-US X 79975093 79975093 single base substitution G T upstream_gene_variant UCEC-US X 79978265 79978265 single base substitution G A missense_variant H558Y 1672C>T UCEC-US X 79978265 79978265 single base substitution G A upstream_gene_variant UCEC-US X 79979255 79979255 single base substitution A G missense_variant Y548H 1642T>C UCEC-US X 79979255 79979255 single base substitution A G upstream_gene_variant UCEC-US X 79979262 79979262 single base substitution A G synonymous_variant S545S 1635T>C UCEC-US X 79979262 79979262 single base substitution A G upstream_gene_variant UCEC-US X 79980545 79980545 single base substitution C T missense_variant V470I 1408G>A UCEC-US X 79980545 79980545 single base substitution C T upstream_gene_variant UCEC-US X 79984261 79984261 single base substitution T C downstream_gene_variant UCEC-US X 79984261 79984261 single base substitution T C missense_variant H459R 1376A>G UCEC-US X 79984300 79984300 single base substitution A G downstream_gene_variant UCEC-US X 79984300 79984300 single base substitution A G missense_variant L446P 1337T>C UCEC-US X 79984339 79984339 single base substitution C T downstream_gene_variant UCEC-US X 79984339 79984339 single base substitution C T missense_variant R433H 1298G>A UCEC-US X 79985481 79985481 single base substitution C A downstream_gene_variant UCEC-US X 79985481 79985481 single base substitution C A missense_variant R389I 1166G>T UCEC-US X 79988955 79988955 single base substitution C T exon_variant UCEC-US X 79988955 79988955 single base substitution C T missense_variant S376N 1127G>A UCEC-US X 79990651 79990651 single base substitution C A missense_variant Q320H 960G>T UCEC-US X 79990651 79990651 single base substitution C A upstream_gene_variant UCEC-US X 79990692 79990692 single base substitution G A missense_variant R307C 919C>T UCEC-US X 79990692 79990692 single base substitution G A upstream_gene_variant UCEC-US X 79991559 79991559 single base substitution C A missense_variant R281I 842G>T UCEC-US X 79991559 79991559 single base substitution C A upstream_gene_variant UCEC-US X 79999581 79999581 single base substitution C A exon_variant UCEC-US X 79999581 79999581 single base substitution C A missense_variant A255S 763G>T UCEC-US X 79999589 79999589 single base substitution C T exon_variant UCEC-US X 79999589 79999589 single base substitution C T missense_variant R252Q 755G>A UCEC-US X 80001078 80001078 single base substitution C A exon_variant UCEC-US X 80001078 80001078 single base substitution C A missense_variant R194I 581G>T UCEC-US X 80001135 80001135 single base substitution C A exon_variant UCEC-US X 80001135 80001135 single base substitution C A missense_variant R175I 524G>T UCEC-US X 80047448 80047448 single base substitution C T exon_variant UCEC-US X 80047448 80047448 single base substitution C T missense_variant C112Y 335G>A UCEC-US X 80064787 80064787 single base substitution G A exon_variant UCEC-US X 80064787 80064787 single base substitution G A synonymous_variant I16I 48C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 4132_T COSM3965560 c.4141G>T p.A1381S Substitution - Missense 23:80684102-80684102 - TCGA-AG-3892-01 COSM256421 c.485T>C p.F162S Substitution - Missense 23:80745675-80745675 - HCC67 COSM1626158 c.2476-2A>G p.? Unknown 23:80707505-80707505 - ESO-118 COSM1246263 c.4487C>T p.S1496L Substitution - Missense 23:80682005-80682005 - ESCC_BICR_007T COSM5434238 c.3640G>A p.E1214K Substitution - Missense 23:80690055-80690055 - TCGA-CG-4443-01 COSM4111262 c.4177G>T p.D1393Y Substitution - Missense 23:80684066-80684066 - T92 COSM238989 c.3551A>C p.Y1184S Substitution - Missense 23:80691104-80691104 - TCGA-DI-A0WH-01 COSM1125799 c.5174G>T p.R1725L Substitution - Missense 23:80676844-80676844 - YUOTHO COSM5413153 c.1459G>A p.D487N Substitution - Missense 23:80724995-80724995 - TCGA-GF-A6C8-06 COSM3914265 c.4087C>T p.Q1363* Substitution - Nonsense 23:80684156-80684156 - TCGA-JL-A3YX-01 COSM3786782 c.3432C>T p.D1144D Substitution - coding silent 23:80691872-80691872 - TCGA-B5-A11E-01 COSM1125875 c.1298G>A p.R433H Substitution - Missense 23:80728840-80728840 - Pat_26_A COSM5878355 c.3808-1G>A p.? Unknown 23:80688126-80688126 - UM-SCC-4 COSM1469581 c.4694G>A p.R1565K Substitution - Missense 23:80677324-80677324 - TCGA-GV-A3JX-01 COSM1315717 c.4514G>C p.G1505A Substitution - Missense 23:80681481-80681481 - T3446 COSM4666260 c.4872C>T p.D1624D Substitution - coding silent 23:80677146-80677146 - TCGA-A7-A4SA-01 COSM3845470 c.1059G>C p.E353D Substitution - Missense 23:80734145-80734145 - TCGA-EE-A29B-06 COSM3563684 c.1803C>T p.F601F Substitution - coding silent 23:80722635-80722635 - 19 COSM5748314 c.644T>C p.L215P Substitution - Missense 23:80744201-80744201 - C709 COSM1125853 c.2372G>A p.R791H Substitution - Missense 23:80709531-80709531 - TCGA-CJ-5686-01 COSM488666 c.860G>C p.G287A Substitution - Missense 23:80736042-80736042 - TCGA-A8-A08T-01 COSM458123 c.5097A>T p.R1699S Substitution - Missense 23:80676921-80676921 - TCGA-AX-A0J1-01 COSM1125805 c.4905C>T p.Y1635Y Substitution - coding silent 23:80677113-80677113 - TCGA-D3-A5GR-06 COSM3563672 c.4528C>T p.L1510L Substitution - coding silent 23:80681467-80681467 - H2171 COSM309540 c.906G>T p.M302I Substitution - Missense 23:80735996-80735996 - CSCC-44-T COSM4499469 c.542C>T p.S181L Substitution - Missense 23:80745618-80745618 - TCGA-22-5473-01 COSM758304 c.1939C>G p.L647V Substitution - Missense 23:80719594-80719594 - T3152 COSM4111265 c.3082C>T p.P1028S Substitution - Missense 23:80695977-80695977 - SC_9008 COSM5549994 c.1450G>A p.A484T Substitution - Missense 23:80725004-80725004 - XHDG25 COSM458125 c.1489C>T p.R497W Substitution - Missense 23:80724965-80724965 - C086 COSM5527427 c.4205A>G p.K1402R Substitution - Missense 23:80684038-80684038 - LUAD-LIP77 COSM367932 c.3956G>T p.R1319L Substitution - Missense 23:80686912-80686912 - TCGA-B0-4700-01 COSM488665 c.1845G>A p.Q615Q Substitution - coding silent 23:80722593-80722593 - SNU-C4 COSM4654575 c.223A>G p.I75V Substitution - Missense 23:80793730-80793730 - HCC2998 COSM196956 c.4988G>T p.R1663I Substitution - Missense 23:80677030-80677030 - TCGA-EE-A2MJ-06 COSM3563669 c.4918C>T p.H1640Y Substitution - Missense 23:80677100-80677100 - PT34 COSM5911093 c.5045G>A p.W1682* Substitution - Nonsense 23:80676973-80676973 - sysucc-1317T COSM5450671 c.1932G>A p.E644E Substitution - coding silent 23:80719601-80719601 - TCGA-A3-3320-01 COSM1497313 c.5240T>A p.I1747N Substitution - Missense 23:80676778-80676778 - TCGA-AX-A0J0-01 COSM196959 c.3976C>T p.R1326* Substitution - Nonsense 23:80686892-80686892 - PDA_093 COSM5003138 c.1255G>A p.D419N Substitution - Missense 23:80728883-80728883 - TCGA-F5-6814-01 COSM3424982 c.4170T>G p.F1390L Substitution - Missense 23:80684073-80684073 - TCGA-AC-A23H-01 COSM3845469 c.1151G>C p.R384P Substitution - Missense 23:80729997-80729997 - YUAKER COSM758310 c.4462C>T p.H1488Y Substitution - Missense 23:80682030-80682030 - TCGA-G4-6625-01 COSM1469606 c.713C>T p.A238V Substitution - Missense 23:80744132-80744132 - TCGA-BF-A1PU-01 COSM4399746 c.1662G>A p.Q554Q Substitution - coding silent 23:80722776-80722776 - CSCC-52-T COSM4462439 c.1247C>T p.S416F Substitution - Missense 23:80728891-80728891 - 46M COSM5587305 c.2482G>A p.E828K Substitution - Missense 23:80707497-80707497 - TCGA-AP-A056-01 COSM1125843 c.3052G>T p.E1018* Substitution - Nonsense 23:80696755-80696755 - TCGA-A5-A0GA-01 COSM1125826 c.3728+1G>A p.? Unknown 23:80689966-80689966 - BN24T COSM1626159 c.814-4delT p.? Unknown 23:80736092-80736092 - 6115237 COSM5554783 c.5143G>A p.G1715S Substitution - Missense 23:80676875-80676875 - TCGA-A8-A09W-01 COSM458126 c.980G>A p.S327N Substitution - Missense 23:80735132-80735132 - TCGA-EK-A2RA-01 COSM4848341 c.1977C>T p.D659D Substitution - coding silent 23:80719556-80719556 - HCC2998 COSM1682746 c.1973A>C p.Q658P Substitution - Missense 23:80719560-80719560 - TCGA-C5-A1MH-01 COSM4821041 c.791C>T p.S264L Substitution - Missense 23:80744054-80744054 - CPCG0346-F1 COSM4880346 c.2232-5A>G p.? Unknown 23:80716255-80716255 - LC_S35 COSM1190584 c.5342G>A p.R1781K Substitution - Missense 23:80676676-80676676 - TCGA-D1-A103-01 COSM1125817 c.4314C>T p.I1438I Substitution - coding silent 23:80682548-80682548 - CHC799T COSM4953545 c.910T>G p.F304V Substitution - Missense 23:80735992-80735992 - TCGA-BS-A0UV-01 COSM1125807 c.4801T>G p.L1601V Substitution - Missense 23:80677217-80677217 - 1047T COSM4963432 c.2472A>T p.S824S Substitution - coding silent 23:80709431-80709431 - YUFAR COSM1686328 c.754C>T p.R252* Substitution - Nonsense 23:80744091-80744091 - TCGA-85-6561-01 COSM758303 c.1924C>A p.Q642K Substitution - Missense 23:80719609-80719609 - 587226 COSM1184980 c.334T>C p.C112R Substitution - Missense 23:80791950-80791950 - HCC2998 COSM196956 c.4988G>T p.R1663I Substitution - Missense 23:80677030-80677030 - TCGA-AP-A0LG-01 COSM1125803 c.4959A>T p.K1653N Substitution - Missense 23:80677059-80677059 - 4095_T COSM3965562 c.1651-2A>G p.? Unknown 23:80722789-80722789 - PT45 COSM5927929 c.4982G>A p.G1661E Substitution - Missense 23:80677036-80677036 - TCGA-EK-A2PG-01 COSM4819838 c.161G>A p.R54Q Substitution - Missense 23:80808558-80808558 - 587342 COSM1184982 c.1085C>T p.T362M Substitution - Missense 23:80734119-80734119 - TCGA-CM-5864-01 COSM1469580 c.5116G>C p.G1706R Substitution - Missense 23:80676902-80676902 - TCGA-BR-4362-01 COSM4111261 c.4928G>A p.S1643N Substitution - Missense 23:80677090-80677090 - CSB2 COSM5028960 c.4830A>G p.G1610G Substitution - coding silent 23:80677188-80677188 - OSCC-GB_00290111 COSM3713936 c.3352G>T p.G1118C Substitution - Missense 23:80691952-80691952 - CSCC-16-T COSM3786782 c.3432C>T p.D1144D Substitution - coding silent 23:80691872-80691872 - Pat_76_A COSM1125830 c.3718C>T p.R1240* Substitution - Nonsense 23:80689977-80689977 - KM12 COSM1682743 c.4003C>A p.P1335T Substitution - Missense 23:80686865-80686865 - YUPTER COSM5413155 c.529C>G p.L177V Substitution - Missense 23:80745631-80745631 - CSCC-20-T COSM4489439 c.3476C>T p.S1159F Substitution - Missense 23:80691828-80691828 - 2497780 COSM5750967 c.2554G>T p.D852Y Substitution - Missense 23:80704845-80704845 - TCGA-FS-A1ZZ-06 COSM3563679 c.3433G>A p.E1145K Substitution - Missense 23:80691871-80691871 - TCGA-GN-A269-01 COSM3563687 c.1407C>T p.F469F Substitution - coding silent 23:80725047-80725047 - TCGA-EE-A3JD-06 COSM4396858 c.4989A>G p.R1663R Substitution - coding silent 23:80677029-80677029 - S01366 COSM309543 c.2194A>G p.R732G Substitution - Missense 23:80717610-80717610 - CPCG0103-P4 COSM3396431 c.3775G>A p.A1259T Substitution - Missense 23:80689800-80689800 - TCGA-24-2293-01 COSM69852 c.3701T>G p.V1234G Substitution - Missense 23:80689994-80689994 - TCGA-AP-A056-01 COSM1125847 c.2888C>T p.S963L Substitution - Missense 23:80700012-80700012 - TCGA-AD-6895-01 COSM1469591 c.3238A>T p.S1080C Substitution - Missense 23:80692965-80692965 - PT27 COSM1125830 c.3718C>T p.R1240* Substitution - Nonsense 23:80689977-80689977 - HCC2998 COSM1682745 c.2095C>T p.R699* Substitution - Nonsense 23:80717709-80717709 - TCGA-IR-A3LC-01 COSM4832209 c.3955C>A p.R1319S Substitution - Missense 23:80686913-80686913 - TCGA-EE-A182-06 COSM3563683 c.2418T>A p.N806K Substitution - Missense 23:80709485-80709485 - TCGA-FD-A3B4-01 COSM1315718 c.2143G>T p.A715S Substitution - Missense 23:80717661-80717661 - TCGA-BS-A0UV-01 COSM1125861 c.1939C>A p.L647I Substitution - Missense 23:80719594-80719594 - YUPTER COSM5413152 c.2515G>A p.D839N Substitution - Missense 23:80707464-80707464 - J80_T COSM3965561 c.2400G>T p.R800R Substitution - coding silent 23:80709503-80709503 - TCGA-A8-A0A6-01 COSM3845464 c.3187T>G p.W1063G Substitution - Missense 23:80693016-80693016 - TCGA-D1-A16X-01 COSM1125885 c.842G>T p.R281I Substitution - Missense 23:80736060-80736060 - QC2-34-T2 COSM5654611 c.2836-2A>C p.? Unknown 23:80700066-80700066 - TCGA-D1-A16X-01 COSM1125813 c.4627C>T p.R1543W Substitution - Missense 23:80681368-80681368 - GC_315T-GC_315N COSM4773905 c.1271T>C p.L424P Substitution - Missense 23:80728867-80728867 - TCGA-AG-3901-01 COSM258737 c.3751C>G p.L1251V Substitution - Missense 23:80689824-80689824 - TCGA-B5-A0JR-01 COSM1125865 c.1642T>C p.Y548H Substitution - Missense 23:80723756-80723756 - TCGA-ER-A19P-06 COSM3563675 c.3914G>T p.W1305L Substitution - Missense 23:80686954-80686954 - TCGA-39-5024-01 COSM758295 c.88C>T p.Q30* Substitution - Nonsense 23:80809248-80809248 - sysucc-1370T COSM309542 c.3446G>A p.R1149Q Substitution - Missense 23:80691858-80691858 - PD4092a COSM159422 c.3403G>C p.E1135Q Substitution - Missense 23:80691901-80691901 - TCGA-EK-A2RJ-01 COSM4832089 c.3564C>T p.L1188L Substitution - coding silent 23:80691091-80691091 - TCGA-GN-A268-06 COSM3563688 c.1359C>T p.I453I Substitution - coding silent 23:80728779-80728779 - CHC313T COSM4949921 c.4172A>T p.Y1391F Substitution - Missense 23:80684071-80684071 - TCGA-AP-A0LM-01 COSM1125855 c.2176C>A p.L726I Substitution - Missense 23:80717628-80717628 - TCGA-G4-6315-01 COSM1469609 c.112G>A p.E38K Substitution - Missense 23:80809021-80809021 - TCGA-MU-A5YI-01 COSM4855331 c.4565C>T p.S1522L Substitution - Missense 23:80681430-80681430 - P09-120 COSM243249 c.799A>C p.I267L Substitution - Missense 23:80744046-80744046 - T2583 COSM4666269 c.471C>T p.R157R Substitution - coding silent 23:80745689-80745689 - CSCC-18-T COSM4471916 c.1749C>T p.L583L Substitution - coding silent 23:80722689-80722689 - CRC-19T COSM5482356 c.914+6T>C p.? Unknown 23:80735982-80735982 - TCGA-A5-A0R7-01 COSM1125821 c.4189A>T p.I1397L Substitution - Missense 23:80684054-80684054 - T3049 COSM4666267 c.986-2A>G p.? Unknown 23:80734220-80734220 - S02344 COSM1125819 c.4241G>T p.S1414I Substitution - Missense 23:80682621-80682621 - pfg060T COSM4758043 c.3107T>G p.L1036R Substitution - Missense 23:80695952-80695952 - TCGA-CG-5734-01 COSM4111260 c.5379G>A p.R1793R Substitution - coding silent 23:80676639-80676639 - C086 COSM5527429 c.1506G>A p.R502R Substitution - coding silent 23:80724948-80724948 - WM3211 COSM3727459 c.3209A>G p.Q1070R Substitution - Missense 23:80692994-80692994 - YUAKER COSM1715208 c.2372G>T p.R791L Substitution - Missense 23:80709531-80709531 - CSCC-16-T COSM4540196 c.2801G>A p.R934Q Substitution - Missense 23:80703514-80703514 - YUOTHO COSM5413154 c.1336C>T p.L446F Substitution - Missense 23:80728802-80728802 - HCC67T COSM1626158 c.2476-2A>G p.? Unknown 23:80707505-80707505 - TCGA-22-4613-01 COSM758305 c.2044+2T>A p.? Unknown 23:80719487-80719487 - TCGA-AN-A046-01 COSM3845462 c.5359A>G p.K1787E Substitution - Missense 23:80676659-80676659 - TCGA-27-1833-01 COSM3406619 c.4252C>T p.R1418* Substitution - Nonsense 23:80682610-80682610 - RK080_C01 COSM1636620 c.2196A>G p.R732R Substitution - coding silent 23:80717608-80717608 - 2_RESISTANT COSM1723033 c.5121_5122insA p.G1708fs*11 Insertion - Frameshift 23:80676896-80676897 - TCGA-BH-A0B6-01 COSM3845466 c.2776C>T p.Q926* Substitution - Nonsense 23:80703539-80703539 - ESCC_104 COSM5638396 c.5200G>A p.D1734N Substitution - Missense 23:80676818-80676818 - TCGA-IR-A3LF-01 COSM4849463 c.778C>G p.L260V Substitution - Missense 23:80744067-80744067 - PT20_1 COSM5900650 c.3841C>T p.P1281S Substitution - Missense 23:80688092-80688092 - Gp2D COSM3097870 c.748T>C p.C250R Substitution - Missense 23:80744097-80744097 - TCGA-E2-A10C-01 COSM458122 c.5314G>A p.E1772K Substitution - Missense 23:80676704-80676704 - TCGA-AZ-6598-01 COSM1469607 c.638G>A p.R213H Substitution - Missense 23:80744207-80744207 - TCGA-D1-A167-01 COSM1125828 c.3719G>A p.R1240Q Substitution - Missense 23:80689976-80689976 - HCC2998 COSM1682744 c.2173G>T p.D725Y Substitution - Missense 23:80717631-80717631 - SA093 COSM213604 c.4900G>T p.D1634Y Substitution - Missense 23:80677118-80677118 - C086 COSM159423 c.5174G>A p.R1725Q Substitution - Missense 23:80676844-80676844 - TCGA-CD-8536-01 COSM4111263 c.3846T>C p.G1282G Substitution - coding silent 23:80688087-80688087 - T3431 COSM4666265 c.2722-2delA p.? Unknown 23:80703595-80703595 - BD110T COSM5514378 c.3445C>T p.R1149W Substitution - Missense 23:80691859-80691859 - BN23T COSM3708738 c.2658T>C p.S886S Substitution - coding silent 23:80704741-80704741 - TCGA-B5-A11Y-01 COSM1125869 c.1408G>A p.V470I Substitution - Missense 23:80725046-80725046 - TCGA-D1-A17Q-01 COSM1125900 c.48C>T p.I16I Substitution - coding silent 23:80809288-80809288 - TCGA-CK-5913-01 COSM1469605 c.921C>T p.R307R Substitution - coding silent 23:80735191-80735191 - 587238 COSM1184981 c.4927A>T p.S1643C Substitution - Missense 23:80677091-80677091 - TCGA-AX-A0J0-01 COSM1125815 c.4364G>A p.S1455N Substitution - Missense 23:80682498-80682498 - HCC77 COSM1626156 c.3146A>G p.Q1049R Substitution - Missense 23:80695913-80695913 - 345954 COSM3726313 c.706C>T p.L236F Substitution - Missense 23:80744139-80744139 - sysucc-325T COSM5461338 c.552C>T p.Y184Y Substitution - coding silent 23:80745608-80745608 - Gp5D COSM3097870 c.748T>C p.C250R Substitution - Missense 23:80744097-80744097 - PD7220a COSM5769067 c.920G>A p.R307H Substitution - Missense 23:80735192-80735192 - TCGA-43-6647-01 COSM758307 c.3502G>A p.V1168I Substitution - Missense 23:80691153-80691153 - TCGA-AP-A051-01 COSM488664 c.3181G>A p.A1061T Substitution - Missense 23:80693022-80693022 - TCGA-AZ-6605-01 COSM1469604 c.985+2T>C p.? Unknown 23:80735125-80735125 - ESO-081 COSM1243108 c.3364T>C p.S1122P Substitution - Missense 23:80691940-80691940 - TCGA-AN-A046-01 COSM3845467 c.2248C>T p.R750* Substitution - Nonsense 23:80716234-80716234 - TCGA-66-2734-01 COSM758298 c.714T>C p.A238A Substitution - coding silent 23:80744131-80744131 - pfg064T COSM4758040 c.4899A>C p.Q1633H Substitution - Missense 23:80677119-80677119 - TCGA-BR-6452-01 COSM4111270 c.1773T>A p.D591E Substitution - Missense 23:80722665-80722665 - TCGA-AZ-5407-01 COSM1469582 c.4572C>T p.F1524F Substitution - coding silent 23:80681423-80681423 - TCGA-UB-A7MB-01 COSM4931590 c.765A>G p.A255A Substitution - coding silent 23:80744080-80744080 - 29T COSM3713936 c.3352G>T p.G1118C Substitution - Missense 23:80691952-80691952 - TARGET-30-PASCDX COSM1283684 c.1756C>T p.P586S Substitution - Missense 23:80722682-80722682 - T2941 COSM4666259 c.5001C>G p.T1667T Substitution - coding silent 23:80677017-80677017 - TCGA-BR-A4CS-01 COSM4111271 c.1678G>A p.D560N Substitution - Missense 23:80722760-80722760 - TCGA-B0-4828-01 COSM3364113 c.4146A>G p.G1382G Substitution - coding silent 23:80684097-80684097 - LUAD-CHTN-MAD06-00668 COSM360629 c.1975G>T p.D659Y Substitution - Missense 23:80719558-80719558 - S02291 COSM5687122 c.4398-2A>T p.? Unknown 23:80682096-80682096 - BD6T COSM5498709 c.814-5_814-4delTT p.? Unknown 23:80736092-80736093 - TCGA-BF-A1PX-01 COSM169244 c.655C>T p.R219C Substitution - Missense 23:80744190-80744190 - S01563 COSM309544 c.4062_4068delAGATTCA p.Q1354fs*11 Deletion - Frameshift 23:80685474-80685480 - TCGA-D1-A103-01 COSM1125840 c.3226G>A p.E1076K Substitution - Missense 23:80692977-80692977 - Patient4 COSM196957 c.4813G>A p.E1605K Substitution - Missense 23:80677205-80677205 - CSCC-40-T COSM363532 c.5092G>A p.G1698R Substitution - Missense 23:80676926-80676926 - T3091 COSM4666266 c.1160C>T p.T387M Substitution - Missense 23:80729988-80729988 - 4_PRE-TREATMENT COSM1723869 c.820C>T p.P274S Substitution - Missense 23:80736082-80736082 - TCGA-EE-A2MK-06 COSM3563682 c.2593G>A p.G865R Substitution - Missense 23:80704806-80704806 - LPJ108 COSM1316527 c.5061A>C p.R1687S Substitution - Missense 23:80676957-80676957 - TCGA-D3-A3C7-06 COSM3563673 c.4443C>T p.D1481D Substitution - coding silent 23:80682049-80682049 - PD18769a COSM5794787 c.937G>C p.E313Q Substitution - Missense 23:80735175-80735175 - TCGA-60-2710-01 COSM758302 c.1862G>T p.G621V Substitution - Missense 23:80722576-80722576 - TCGA-AP-A0LE-01 COSM1125857 c.2119G>T p.G707C Substitution - Missense 23:80717685-80717685 - sysucc-627T COSM5468129 c.3905C>A p.P1302H Substitution - Missense 23:80686963-80686963 - ccRCC-43 COSM1660801 c.5090G>T p.R1697L Substitution - Missense 23:80676928-80676928 - LUAD-F00368 COSM367786 c.524G>T p.R175I Substitution - Missense 23:80745636-80745636 - 19 COSM5748313 c.1496C>T p.T499I Substitution - Missense 23:80724958-80724958 - TCGA-EE-A2MR-06 COSM3563681 c.3247C>T p.Q1083* Substitution - Nonsense 23:80692956-80692956 - TCGA-DK-A3X1-01 COSM3800778 c.5316G>C p.E1772D Substitution - Missense 23:80676702-80676702 - TCGA-DA-A1IA-06 COSM3563680 c.3400C>T p.Q1134* Substitution - Nonsense 23:80691904-80691904 - YUPTER COSM5413156 c.491C>T p.S164L Substitution - Missense 23:80745669-80745669 - HCC77T COSM1626156 c.3146A>G p.Q1049R Substitution - Missense 23:80695913-80695913 - HCC32T COSM1626157 c.2838T>C p.L946L Substitution - coding silent 23:80700062-80700062 - TCGA-CD-A4MI-01 COSM3097852 c.1807C>T p.R603W Substitution - Missense 23:80722631-80722631 - TCGA-D3-A1Q7-06 COSM3563671 c.4570T>C p.F1524L Substitution - Missense 23:80681425-80681425 - TCGA-FR-A3YO-06 COSM3563668 c.5129G>A p.G1710E Substitution - Missense 23:80676889-80676889 - CRC-06T COSM5457501 c.4906G>A p.V1636I Substitution - Missense 23:80677112-80677112 - TCGA-AP-A059-01 COSM1125832 c.3610T>C p.S1204P Substitution - Missense 23:80690085-80690085 - TARGET-30-PASCDX COSM1283683 c.1720G>T p.D574Y Substitution - Missense 23:80722718-80722718 - TCGA-AM-5821-01 COSM3694725 c.3593G>A p.R1198H Substitution - Missense 23:80691062-80691062 - Pat_26_B COSM5878355 c.3808-1G>A p.? Unknown 23:80688126-80688126 - ESCC_BICR_032T COSM5431999 c.5296G>C p.D1766H Substitution - Missense 23:80676722-80676722 - PD4978a COSM5785203 c.331+5G>T p.? Unknown 23:80793617-80793617 - TCGA-G3-A5SK-01 COSM4927533 c.1244C>T p.P415L Substitution - Missense 23:80728894-80728894 - TCGA-A2-A25E-01 COSM1491300 c.789T>C p.H263H Substitution - coding silent 23:80744056-80744056 - T3503 COSM4666263 c.3921_3922insA p.Q1308fs*11 Insertion - Frameshift 23:80686946-80686947 - SNU-C2B COSM3097884 c.84C>T p.S28S Substitution - coding silent 23:80809252-80809252 - S00836 COSM309541 c.892C>A p.H298N Substitution - Missense 23:80736010-80736010 - TCGA-AD-6964-01 COSM1469603 c.1086+2T>C p.? Unknown 23:80734116-80734116 - LPJ108 COSM1316526 c.5062G>T p.G1688* Substitution - Nonsense 23:80676956-80676956 - TCGA-AP-A059-01 COSM1125819 c.4241G>T p.S1414I Substitution - Missense 23:80682621-80682621 - ESCC-015T COSM3940129 c.2872C>T p.R958W Substitution - Missense 23:80700028-80700028 - TCGA-13-0807-01 COSM79145 c.4499C>G p.S1500* Substitution - Nonsense 23:80681496-80681496 - LUAD-S01306 COSM385608 c.3809A>T p.D1270V Substitution - Missense 23:80688124-80688124 - C135 COSM458125 c.1489C>T p.R497W Substitution - Missense 23:80724965-80724965 - 4_RESISTANT COSM1723869 c.820C>T p.P274S Substitution - Missense 23:80736082-80736082 - TCGA-BS-A0UJ-01 COSM1125809 c.4669G>T p.G1557* Substitution - Nonsense 23:80677349-80677349 - ITNET_1047_T COSM4963432 c.2472A>T p.S824S Substitution - coding silent 23:80709431-80709431 - TCGA-FR-A3YO-06 COSM3563685 c.1684C>T p.R562C Substitution - Missense 23:80722754-80722754 - TCGA-AA-3848-01 COSM196962 c.2359C>T p.R787C Substitution - Missense 23:80709544-80709544 - BD186T COSM5501262 c.2495C>T p.T832I Substitution - Missense 23:80707484-80707484 - LOVO COSM3097869 c.768C>T p.P256P Substitution - coding silent 23:80744077-80744077 - Pat_26_A COSM5878356 c.1682A>T p.Y561F Substitution - Missense 23:80722756-80722756 - TCGA-EK-A2RJ-01 COSM4832042 c.1448C>T p.S483L Substitution - Missense 23:80725006-80725006 - TCGA-13-2057-01 COSM1331674 c.4901A>T p.D1634V Substitution - Missense 23:80677117-80677117 - TCGA-BR-8487-01 COSM4111273 c.568C>T p.R190* Substitution - Nonsense 23:80745592-80745592 - ESCC_151 COSM5645294 c.4713C>A p.I1571I Substitution - coding silent 23:80677305-80677305 - TCGA-BS-A0UA-01 COSM1125849 c.2673G>T p.L891F Substitution - Missense 23:80704726-80704726 - ESCC_BICR_057T COSM5436888 c.3370G>A p.E1124K Substitution - Missense 23:80691934-80691934 - TCGA-AG-3892-01 COSM256420 c.1385C>A p.S462Y Substitution - Missense 23:80728753-80728753 - CHC313T COSM4949921 c.4172A>T p.Y1391F Substitution - Missense 23:80684071-80684071 - TCGA-18-4083-01 COSM758296 c.347T>A p.L116Q Substitution - Missense 23:80791937-80791937 - TCGA-P5-A5EX-01 COSM4420678 c.3891T>C p.S1297S Substitution - coding silent 23:80686977-80686977 - CCK81 COSM4620893 c.31G>A p.E11K Substitution - Missense 23:80809441-80809441 - HCC2998 COSM3097830 c.3286A>C p.K1096Q Substitution - Missense 23:80692128-80692128 - TCGA-EE-A2GE-06 COSM3563678 c.3715C>T p.L1239F Substitution - Missense 23:80689980-80689980 - TCGA-F4-6461-01 COSM3563683 c.2418T>A p.N806K Substitution - Missense 23:80709485-80709485 - TCGA-A8-A0A6-01 COSM3845471 c.765A>C p.A255A Substitution - coding silent 23:80744080-80744080 - TCGA-21-1070-01 COSM758301 c.1746C>A p.H582Q Substitution - Missense 23:80722692-80722692 - TCGA-AY-6197-01 COSM1469593 c.2442A>G p.S814S Substitution - coding silent 23:80709461-80709461 - TCGA-AP-A0LH-01 COSM1125898 c.180G>C p.L60L Substitution - coding silent 23:80808539-80808539 - PT49 COSM5936762 c.3602+3C>T p.? Unknown 23:80691050-80691050 - LUAD-S01315 COSM385751 c.3267G>T p.W1089C Substitution - Missense 23:80692147-80692147 - LUAD-D02185 COSM363532 c.5092G>A p.G1698R Substitution - Missense 23:80676926-80676926 - MO_1008 COSM5553643 c.1894G>A p.E632K Substitution - Missense 23:80719639-80719639 - TCGA-CZ-4859-01 COSM488664 c.3181G>A p.A1061T Substitution - Missense 23:80693022-80693022 - RK032_C01 COSM1636619 c.3637A>G p.I1213V Substitution - Missense 23:80690058-80690058 - PD22364a COSM5801423 c.3845delG p.G1282fs*17 Deletion - Frameshift 23:80688088-80688088 - BZ33 COSM5759006 c.1189G>C p.E397Q Substitution - Missense 23:80729959-80729959 - TCGA-D8-A1XK-01 COSM3845463 c.4174A>G p.K1392E Substitution - Missense 23:80684069-80684069 - TCGA-CM-6164-01 COSM1469586 c.4167A>G p.E1389E Substitution - coding silent 23:80684076-80684076 - pfg122T COSM3424983 c.637C>T p.R213C Substitution - Missense 23:80744208-80744208 - PD7243a COSM5779120 c.1057G>A p.E353K Substitution - Missense 23:80734147-80734147 - TCGA-B5-A11E-01 COSM1125824 c.3784C>T p.R1262* Substitution - Nonsense 23:80689791-80689791 - 2492724 COSM5725276 c.3635A>G p.Y1212C Substitution - Missense 23:80690060-80690060 - LPJ114 COSM1316614 c.2464A>C p.S822R Substitution - Missense 23:80709439-80709439 - TCGA-B5-A0JY-01 COSM1125893 c.581G>T p.R194I Substitution - Missense 23:80745579-80745579 - TCGA-EE-A2MK-06 COSM3563670 c.4862C>T p.S1621F Substitution - Missense 23:80677156-80677156 - Pat_06_A COSM5878353 c.5030delG p.G1677fs*99 Deletion - Frameshift 23:80676988-80676988 - PCSI_0311_Pa_P_526 COSM3786782 c.3432C>T p.D1144D Substitution - coding silent 23:80691872-80691872 - TCGA-AP-A056-01 COSM1125883 c.919C>T p.R307C Substitution - Missense 23:80735193-80735193 - TCGA-BG-A18B-01 COSM1125891 c.715G>A p.A239T Substitution - Missense 23:80744130-80744130 - TCGA-BR-6452-01 COSM4111264 c.3211C>T p.Q1071* Substitution - Nonsense 23:80692992-80692992 - TCGA-D1-A0ZS-01 COSM1125801 c.5037G>A p.W1679* Substitution - Nonsense 23:80676981-80676981 - YUGOE COSM1715207 c.4622C>T p.S1541L Substitution - Missense 23:80681373-80681373 - PD18264a COSM5792857 c.129G>A p.P43P Substitution - coding silent 23:80808590-80808590 - TCGA-BG-A0M4-01 COSM1125851 c.2595A>T p.G865G Substitution - coding silent 23:80704804-80704804 - pfg016T COSM1644086 c.3418delG p.A1140fs*42 Deletion - Frameshift 23:80691886-80691886 - TCGA-GM-A2DI-01 COSM3845465 c.3124G>A p.E1042K Substitution - Missense 23:80695935-80695935 - TCGA-FS-A1ZZ-06 COSM3563686 c.1429G>A p.D477N Substitution - Missense 23:80725025-80725025 - TCGA-AX-A0J0-01 COSM1125797 c.5215G>T p.G1739* Substitution - Nonsense 23:80676803-80676803 - RKO COSM3097821 c.3971C>A p.P1324Q Substitution - Missense 23:80686897-80686897 - TCGA-29-1691-01 COSM1331672 c.3481+2T>A p.? Unknown 23:80691821-80691821 - In-1 COSM144795 c.362C>G p.A121G Substitution - Missense 23:80791922-80791922 - TCGA-EE-A3JI-06 COSM3563677 c.3733C>T p.Q1245* Substitution - Nonsense 23:80689842-80689842 - A9 COSM5351657 c.1278G>A p.V426V Substitution - coding silent 23:80728860-80728860 - Gp2D COSM4629063 c.1191A>G p.E397E Substitution - coding silent 23:80729957-80729957 - PD9702a COSM5772690 c.2618G>C p.R873T Substitution - Missense 23:80704781-80704781 - CHC799T COSM4953545 c.910T>G p.F304V Substitution - Missense 23:80735992-80735992 - HDC54 COSM4636544 c.243T>C p.P81P Substitution - coding silent 23:80793710-80793710 - BD72T COSM5513830 c.2043T>C p.G681G Substitution - coding silent 23:80719490-80719490 - Pat_53_B COSM5878354 c.4354_4355delCT p.L1452fs*9 Deletion - Frameshift 23:80682507-80682508 - T3091 COSM4666258 c.5218C>T p.R1740C Substitution - Missense 23:80676800-80676800 - PD4134a COSM159423 c.5174G>A p.R1725Q Substitution - Missense 23:80676844-80676844 - S02292 COSM5688317 c.109G>T p.E37* Substitution - Nonsense 23:80809024-80809024 - CSB22 COSM5028961 c.3939G>T p.L1313F Substitution - Missense 23:80686929-80686929 - PD11816a COSM5783395 c.2715A>T p.R905S Substitution - Missense 23:80704684-80704684 - CHC1665T COSM3669013 c.778C>A p.L260I Substitution - Missense 23:80744067-80744067 - 3 COSM4657455 c.33G>A p.E11E Substitution - coding silent 23:80809303-80809303 - LUAD-NYU160 COSM370639 c.238G>T p.G80C Substitution - Missense 23:80793715-80793715 - 8044630 COSM4389577 c.592-4A>C p.? Unknown 23:80744257-80744257 - TCGA-ER-A19J-06 COSM3914266 c.3412T>G p.W1138G Substitution - Missense 23:80691892-80691892 - TCGA-AP-A056-01 COSM196959 c.3976C>T p.R1326* Substitution - Nonsense 23:80686892-80686892 - RKO COSM3097798 c.5305G>A p.V1769M Substitution - Missense 23:80676713-80676713 - TCGA-BH-A0HK-01 COSM458125 c.1489C>T p.R497W Substitution - Missense 23:80724965-80724965 - TCGA-AX-A05Z-01 COSM367786 c.524G>T p.R175I Substitution - Missense 23:80745636-80745636 - HCC2998 COSM1682745 c.2095C>T p.R699* Substitution - Nonsense 23:80717709-80717709 - T2269 COSM4666262 c.4253G>A p.R1418Q Substitution - Missense 23:80682609-80682609 - TCGA-F4-6570-01 COSM1469601 c.1162G>A p.A388T Substitution - Missense 23:80729986-80729986 - TCGA-46-3765-01 COSM758311 c.4603G>T p.D1535Y Substitution - Missense 23:80681392-80681392 - S02120 COSM5673888 c.3673A>T p.S1225C Substitution - Missense 23:80690022-80690022 - TCGA-AP-A059-01 COSM1125834 c.3359C>A p.P1120H Substitution - Missense 23:80691945-80691945 - TCGA-AZ-5407-01 COSM1469594 c.2242G>T p.E748* Substitution - Nonsense 23:80716240-80716240 - BD173T COSM5500308 c.3527C>A p.P1176H Substitution - Missense 23:80691128-80691128 - CSCC-18-T COSM4534095 c.2049G>A p.L683L Substitution - coding silent 23:80717755-80717755 - TCGA-BR-4183-01 COSM4111269 c.1907G>A p.G636E Substitution - Missense 23:80719626-80719626 - PD5930a COSM5785255 c.2874G>T p.R958R Substitution - coding silent 23:80700026-80700026 - CPCG0357-F1 COSM4880081 c.1982G>C p.R661T Substitution - Missense 23:80719551-80719551 - TCGA-AA-A029-01 COSM300572 c.4944C>A p.T1648T Substitution - coding silent 23:80677074-80677074 - TCGA-UB-A7MB-01 COSM4931855 c.1593A>G p.T531T Substitution - coding silent 23:80723805-80723805 - STC291 COSM5064906 c.1324G>C p.V442L Substitution - Missense 23:80728814-80728814 - TCGA-EE-A2ML-06 COSM3563689 c.1153G>A p.D385N Substitution - Missense 23:80729995-80729995 - TCGA-D1-A176-01 COSM1125830 c.3718C>T p.R1240* Substitution - Nonsense 23:80689977-80689977 - TCGA-FU-A3HZ-01 COSM4839951 c.819T>C p.C273C Substitution - coding silent 23:80736083-80736083 - 2492726 COSM5725276 c.3635A>G p.Y1212C Substitution - Missense 23:80690060-80690060 - BD124T COSM5494289 c.1262T>C p.I421T Substitution - Missense 23:80728876-80728876 - LUAD_E00565 COSM389740 c.5138G>T p.G1713V Substitution - Missense 23:80676880-80676880 - TCGA-D1-A17Q-01 COSM1125845 c.3003C>T p.C1001C Substitution - coding silent 23:80696804-80696804 - Case6a COSM1717560 c.974C>G p.S325C Substitution - Missense 23:80735138-80735138 - 631056 COSM318951 c.2590G>A p.A864T Substitution - Missense 23:80704809-80704809 - TCGA-24-1844-01 COSM1331673 c.3860G>A p.R1287K Substitution - Missense 23:80688073-80688073 - MN-288 COSM1578688 c.3144G>C p.W1048C Substitution - Missense 23:80695915-80695915 - TCGA-09-1666-01 COSM82030 c.1116C>T p.N372N Substitution - coding silent 23:80733467-80733467 - PTC-14C COSM4157030 c.148G>C p.G50R Substitution - Missense 23:80808571-80808571 - KM12 COSM1682743 c.4003C>A p.P1335T Substitution - Missense 23:80686865-80686865 - AOCS-055-1-7 COSM4136402 c.592-3T>C p.? Unknown 23:80744256-80744256 - TCGA-18-3406-01 COSM758306 c.2242G>A p.E748K Substitution - Missense 23:80716240-80716240 - TCGA-AG-3892-01 COSM256419 c.3242C>A p.S1081Y Substitution - Missense 23:80692961-80692961 - SJBALL020422_D1 COSM4993605 c.634delG p.G212fs*34 Deletion - Frameshift 23:80744211-80744211 - ESCC_157 COSM5646507 c.4687G>A p.D1563N Substitution - Missense 23:80677331-80677331 - 2492730 COSM4629063 c.1191A>G p.E397E Substitution - coding silent 23:80729957-80729957 - LAU165 COSM231858 c.652C>T p.L218F Substitution - Missense 23:80744193-80744193 - PT33 COSM5909951 c.2650A>T p.S884C Substitution - Missense 23:80704749-80704749 - HCC2998 COSM1682746 c.1973A>C p.Q658P Substitution - Missense 23:80719560-80719560 - TCGA-AN-A046-01 COSM1125883 c.919C>T p.R307C Substitution - Missense 23:80735193-80735193 - TCGA-B5-A0JY-01 COSM1125881 c.960G>T p.Q320H Substitution - Missense 23:80735152-80735152 - 402 COSM1626159 c.814-4delT p.? Unknown 23:80736092-80736092 - TCGA-EJ-5499-01 COSM367932 c.3956G>T p.R1319L Substitution - Missense 23:80686912-80686912 - TCGA-BR-8372-01 COSM4111267 c.2522T>C p.V841A Substitution - Missense 23:80707457-80707457 - TCGA-D1-A16Y-01 COSM1125887 c.763G>T p.A255S Substitution - Missense 23:80744082-80744082 - SA076 COSM213379 c.734T>C p.V245A Substitution - Missense 23:80744111-80744111 - TCGA-IR-A3LH-01 COSM4832922 c.596C>T p.S199L Substitution - Missense 23:80744249-80744249 - 043T COSM1729665 c.658G>C p.G220R Substitution - Missense 23:80744187-80744187 - YURED COSM1715209 c.766_767CC>TT p.P256F Substitution - Missense 23:80744078-80744079 - LAU165 COSM234454 c.651A>T p.T217T Substitution - coding silent 23:80744194-80744194 - T2621 COSM4666268 c.623C>A p.A208D Substitution - Missense 23:80744222-80744222 - TCGA-AZ-4315-01 COSM1125813 c.4627C>T p.R1543W Substitution - Missense 23:80681368-80681368 - T3174 COSM3406619 c.4252C>T p.R1418* Substitution - Nonsense 23:80682610-80682610 - ATL071 COSM5711781 c.4361G>T p.S1454I Substitution - Missense 23:80682501-80682501 - TCGA-E2-A15H-01 COSM458127 c.923C>G p.P308R Substitution - Missense 23:80735189-80735189 - LUAD-E00897 COSM364856 c.3568A>T p.T1190S Substitution - Missense 23:80691087-80691087 - BN23 COSM3708738 c.2658T>C p.S886S Substitution - coding silent 23:80704741-80704741 - ESO-1145 COSM1246262 c.1847T>A p.L616H Substitution - Missense 23:80722591-80722591 - TCGA-AC-A5XS-01 COSM4390695 c.171C>T p.F57F Substitution - coding silent 23:80808548-80808548 - TCGA-BS-A0UF-01 COSM1125877 c.1166G>T p.R389I Substitution - Missense 23:80729982-80729982 - LPJ114 COSM1316615 c.2458T>A p.S820T Substitution - Missense 23:80709445-80709445 - S01522 COSM4387032 c.656G>A p.R219H Substitution - Missense 23:80744189-80744189 - TCGA-HT-7691-01 COSM3973966 c.5205C>T p.T1735T Substitution - coding silent 23:80676813-80676813 - TCGA-AG-4021-01 COSM3424983 c.637C>T p.R213C Substitution - Missense 23:80744208-80744208 - BRC47 COSM5028962 c.430+1G>A p.? Unknown 23:80791853-80791853 - TCGA-B5-A0JY-01 COSM1125836 c.3319G>T p.E1107* Substitution - Nonsense 23:80692095-80692095 - TCGA-HU-A4GQ-01 COSM4111268 c.2351G>A p.R784H Substitution - Missense 23:80709552-80709552 - LUAD-S01357 COSM388043 c.1646A>G p.E549G Substitution - Missense 23:80723752-80723752 - TCGA-AZ-4315-01 COSM196959 c.3976C>T p.R1326* Substitution - Nonsense 23:80686892-80686892 - CSCC-44-T COSM4492964 c.4076C>T p.S1359F Substitution - Missense 23:80685466-80685466 - TCGA-G4-6626-01 COSM1469608 c.179T>C p.L60P Substitution - Missense 23:80808540-80808540 - S01023 COSM5666923 c.531G>T p.L177L Substitution - coding silent 23:80745629-80745629 - TCGA-CD-8531-01 COSM4111266 c.2932A>T p.M978L Substitution - Missense 23:80699968-80699968 - TCGA-AB-2887-03 COSM1319411 c.1118A>G p.N373S Substitution - Missense 23:80733465-80733465 - TCGA-CA-6717-01 COSM1469598 c.1336C>A p.L446I Substitution - Missense 23:80728802-80728802 - BD72T COSM5498709 c.814-5_814-4delTT p.? Unknown 23:80736092-80736093 - LC_S15 COSM1190585 c.2869G>T p.V957F Substitution - Missense 23:80700031-80700031 - TCGA-BR-4292-01 COSM4111272 c.1490G>A p.R497Q Substitution - Missense 23:80724964-80724964 - Pat_41_B COSM5878357 c.803C>T p.T268I Substitution - Missense 23:80744042-80744042 - OST202PT COSM1732252 c.488C>T p.P163L Substitution - Missense 23:80745672-80745672 - LUAD-NYU508 COSM374865 c.1592C>T p.T531I Substitution - Missense 23:80723806-80723806 - S01366 COSM309543 c.2194A>G p.R732G Substitution - Missense 23:80717610-80717610 - TCGA-AP-A059-01 COSM1125896 c.335G>A p.C112Y Substitution - Missense 23:80791949-80791949 - TCGA-F4-6460-01 COSM1469596 c.1980G>T p.L660L Substitution - coding silent 23:80719553-80719553 - 40M COSM5584578 c.2618G>A p.R873K Substitution - Missense 23:80704781-80704781 - TCGA-FW-A3R5-06 COSM3914264 c.4183C>T p.R1395C Substitution - Missense 23:80684060-80684060 - ESCC-038T COSM3940128 c.4382G>T p.S1461I Substitution - Missense 23:80682480-80682480 - ESCC_72 COSM5634426 c.214C>G p.L72V Substitution - Missense 23:80793739-80793739 - TCGA-A6-6781-01 COSM1469592 c.3061T>C p.S1021P Substitution - Missense 23:80696746-80696746 - T578 COSM4666261 c.4718G>T p.R1573I Substitution - Missense 23:80677300-80677300 - 081T COSM1730876 c.4349A>C p.K1450T Substitution - Missense 23:80682513-80682513 - TCGA-BH-A18P-01 COSM458124 c.1771G>C p.D591H Substitution - Missense 23:80722667-80722667 - HCC2998 COSM1682744 c.2173G>T p.D725Y Substitution - Missense 23:80717631-80717631 - EGC8 COSM5064905 c.3488C>T p.A1163V Substitution - Missense 23:80691167-80691167 - TCGA-AA-3492-01 COSM1469587 c.3793A>G p.T1265A Substitution - Missense 23:80689782-80689782 - TARGET-30-PASCJJ COSM1283682 c.1685G>A p.R562H Substitution - Missense 23:80722753-80722753 - TCGA-60-2710-01 COSM758300 c.810A>T p.I270I Substitution - coding silent 23:80744035-80744035 - TCGA-BI-A20A-01 COSM4820572 c.5130G>C p.G1710G Substitution - coding silent 23:80676888-80676888 - TCGA-70-6722-01 COSM758312 c.5030G>A p.G1677E Substitution - Missense 23:80676988-80676988 - TCGA-76-4928-01 COSM3406621 c.631G>A p.D211N Substitution - Missense 23:80744214-80744214 - PCSI_0112_Pa_P COSM3380262 c.534G>T p.G178G Substitution - coding silent 23:80745626-80745626 - TCGA-28-5209-01 COSM3406620 c.2638C>T p.R880C Substitution - Missense 23:80704761-80704761 - TCGA-BS-A0UF-01 COSM1125889 c.755G>A p.R252Q Substitution - Missense 23:80744090-80744090 - TCGA-B5-A11E-01 COSM196959 c.3976C>T p.R1326* Substitution - Nonsense 23:80686892-80686892 - PAPSPN COSM5005263 c.3719G>C p.R1240P Substitution - Missense 23:80689976-80689976 - TCGA-AZ-5407-01 COSM1469599 c.1233-1G>T p.? Unknown 23:80728906-80728906 - TCGA-22-5492-01 COSM758297 c.693C>G p.N231K Substitution - Missense 23:80744152-80744152 - ME011T COSM224623 c.4661C>T p.S1554F Substitution - Missense 23:80677357-80677357 - 432 COSM4433604 c.2065G>C p.D689H Substitution - Missense 23:80717739-80717739 - TCGA-B5-A11E-01 COSM1125873 c.1337T>C p.L446P Substitution - Missense 23:80728801-80728801 - C086 COSM5527428 c.4921G>A p.D1641N Substitution - Missense 23:80677097-80677097 - S02347 COSM5694409 c.2361C>A p.R787R Substitution - coding silent 23:80709542-80709542 - TCGA-AP-A051-01 COSM1125861 c.1939C>A p.L647I Substitution - Missense 23:80719594-80719594 - 9104_T COSM5038683 c.5061_5075del15 p.G1691_G1695delGRGRG Deletion - In frame 23:80676943-80676957 - CSCC-55-T COSM4492766 c.4031C>T p.S1344F Substitution - Missense 23:80685511-80685511 - TCGA-BS-A0UF-01 COSM1125838 c.3277G>T p.E1093* Substitution - Nonsense 23:80692137-80692137 - BD114T COSM5504787 c.3069G>T p.K1023N Substitution - Missense 23:80695990-80695990 - TCGA-EE-A182-06 COSM3563674 c.3991C>T p.L1331F Substitution - Missense 23:80686877-80686877 - TCGA-60-2698-01 COSM758310 c.4462C>T p.H1488Y Substitution - Missense 23:80682030-80682030 - TCGA-B8-5553-01 COSM3364114 c.4017G>A p.E1339E Substitution - coding silent 23:80685525-80685525 - TCGA-E9-A1R6-01 COSM3845468 c.1649A>G p.K550R Substitution - Missense 23:80723749-80723749 - TCGA-D1-A163-01 COSM1125879 c.1127G>A p.S376N Substitution - Missense 23:80733456-80733456 - TCGA-BS-A0UF-01 COSM1125867 c.1635T>C p.S545S Substitution - coding silent 23:80723763-80723763 - ESCC-193T COSM3940130 c.43C>T p.L15L Substitution - coding silent 23:80809293-80809293 - 1N48-VS-1T48 COSM4976384 c.627A>C p.T209T Substitution - coding silent 23:80744218-80744218 - PT25 COSM5905148 c.1876+2T>C p.? Unknown 23:80722560-80722560 - TCGA-60-2709-01 COSM758308 c.3728G>T p.G1243V Substitution - Missense 23:80689967-80689967 - BD57T COSM5498709 c.814-5_814-4delTT p.? Unknown 23:80736092-80736093 - PD6684a COSM5791566 c.5132G>C p.R1711T Substitution - Missense 23:80676886-80676886 - TCGA-Q2-A5QZ-01 COSM3992591 c.446C>T p.A149V Substitution - Missense 23:80745714-80745714 - TCGA-24-1423-01 COSM68968 c.1029_1042del14 p.I344fs*2 Deletion - Frameshift 23:80734162-80734175 - CSCC-31-T COSM4453259 c.2722A>C p.K908Q Substitution - Missense 23:80703593-80703593 - T3498 COSM4666264 c.3903T>C p.N1301N Substitution - coding silent 23:80686965-80686965 - TCGA-EE-A182-06 COSM3563676 c.3851C>T p.S1284L Substitution - Missense 23:80688082-80688082 - pfg017T COSM1644085 c.5173C>T p.R1725* Substitution - Nonsense 23:80676845-80676845 - TCGA-37-4141-01 COSM758299 c.772G>T p.A258S Substitution - Missense 23:80744073-80744073 - TCGA-D5-6534-01 COSM1469597 c.1565C>T p.S522L Substitution - Missense 23:80723833-80723833 - HCC32 COSM1626157 c.2838T>C p.L946L Substitution - coding silent 23:80700062-80700062 - LUAD-LIP77 COSM367931 c.4664T>C p.L1555P Substitution - Missense 23:80677354-80677354 - PD22360a COSM5784206 c.1155T>C p.D385D Substitution - coding silent 23:80729993-80729993 - SW48 COSM3097837 c.2637A>G p.T879T Substitution - coding silent 23:80704762-80704762 - YUDEXA COSM1686328 c.754C>T p.R252* Substitution - Nonsense 23:80744091-80744091 - TCGA-DS-A0VM-01 COSM462171 c.2925G>A p.W975* Substitution - Nonsense 23:80699975-80699975 - TCGA-D1-A103-01 COSM1125863 c.1672C>T p.H558Y Substitution - Missense 23:80722766-80722766 - TCGA-F4-6460-01 COSM1469585 c.4352G>T p.R1451L Substitution - Missense 23:80682510-80682510 - TCGA-JX-A3Q0-01 COSM4823952 c.2326-1G>A p.? Unknown 23:80709578-80709578 - TCGA-AP-A056-01 COSM1125811 c.4634G>T p.R1545I Substitution - Missense 23:80681361-80681361 - TCGA-BS-A0UV-01 COSM1125871 c.1376A>G p.H459R Substitution - Missense 23:80728762-80728762 - TCGA-BR-4370-01 COSM4111265 c.3082C>T p.P1028S Substitution - Missense 23:80695977-80695977 - S01023 COSM5666922 c.3442G>T p.E1148* Substitution - Nonsense 23:80691862-80691862 - TCGA-BS-A0UF-01 COSM1125859 c.2053A>C p.S685R Substitution - Missense 23:80717751-80717751 - S00837 COSM309542 c.3446G>A p.R1149Q Substitution - Missense 23:80691858-80691858 - CHEWS031 COSM4589552 c.4757G>A p.G1586E Substitution - Missense 23:80677261-80677261 - TCGA-B5-A0JY-01 COSM1125853 c.2372G>A p.R791H Substitution - Missense 23:80709531-80709531 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.147027 Xq21.1 300553

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C IntronicSNV . c.592-48T>G X 79999800 NSCLC A C Missense p.V1234G c.3701T>G X 79945493 OV A C Missense p.W1138G c.3412T>G X 79947391 CM A G IntronicSNV . c.121-71T>C X 80064168 ESCA A G IntronicSNV . c.2553-199T>C X 79960544 PIA A G Missense p.F1524L c.4570T>C X 79936924 CM A G Missense p.S1615P c.4843T>C X 79932674 HNSC A G Missense p.V245A c.734T>C X 79999610 BRCA A G Missense p.Y548H c.1642T>C X 79979255 UCEC A G Synonymous p.A238A c.714T>C X 79999630 LUSC A G Synonymous p.H263H c.789T>C X 79999555 BRCA A T IntronicSNV . c.431-6295T>A X 80007523 CLL A T Missense p.L116Q c.347T>A X 80047436 LUSC A T Missense p.L616H c.1847T>A X 79978090 ESCA A T Missense p.N806K c.2418T>A X 79964984 CM A T Missense p.S1627T c.4879T>A X 79932638 CM A T SpliceDonorSNV . c.2044+2T>A X 79974986 LUSC C A Missense p.A1489S c.4465G>T X 79937526 LUAD C A Missense p.A1503S c.4507G>T X 79936987 LUAD C A Missense p.A255S c.763G>T X 79999581 UCEC C A Missense p.A258S c.772G>T X 79999572 LUSC C A Missense p.A715S c.2143G>T X 79973160 BLCA C A Missense p.D1393Y c.4177G>T X 79939565 STAD C A Missense p.D1535Y c.4603G>T X 79936891 LUSC C A Missense p.D1634Y c.4900G>T X 79932617 BRCA C A Missense p.D574Y c.1720G>T X 79978217 NB C A Missense p.G1243V c.3728G>T X 79945466 LUSC C A Missense p.G621V c.1862G>T X 79978075 LUSC C A Missense p.K1409N c.4227G>T X 79939515 LUAD C A Missense p.L1313F c.3939G>T X 79942428 BRCA C A Missense p.L891F c.2673G>T X 79960225 UCEC C A Missense p.R314I c.941G>T X 79990670 HNSC C A Missense p.R566L c.1697G>T X 79978240 LUAD C A Missense p.V230F c.688G>T X 79999656 HNSC C A SpliceAcceptorSNV . c.3603-1G>T X 79945592 LUAD C A Synonymous p.G741G c.2223G>T X 79973080 LUAD CCAAATAATATATT - Frameshift p.I344Ffs*2 c.1029_1042delAATATATTATTTGG X 79989661 OV C - Frameshift p.A1140Lfs*42 c.3418delG X 79947385 STAD C - Frameshift p.A809Hfs*29 c.2425delG X 79964977 MM C G Missense p.E1135Q c.3403G>C X 79947400 BRCA C G Missense p.G1505A c.4514G>C X 79936980 BLCA C G Missense p.G1661A c.4982G>C X 79932535 LUAD C G Missense p.G287A c.860G>C X 79991541 RCCC C G Missense p.R307P c.920G>C X 79990691 HNSC C G Missense p.W249C c.747G>C X 79999597 HNSC C T Missense p.A1061T c.3181G>A X 79948521 RCCC C T Missense p.A864T c.2590G>A X 79960308 SCLC C T Missense p.D211N c.631G>A X 79999713 GBM C T Missense p.D385N c.1153G>A X 79985494 CM C T Missense p.D465N c.1393G>A X 79980560 HNSC C T Missense p.D477N c.1429G>A X 79980524 CM C T Missense p.D496N c.1486G>A X 79980467 HNSC C T Missense p.E1145K c.3433G>A X 79947370 CM C T Missense p.E357K c.1069G>A X 79989634 HNSC C T Missense p.E632K c.1894G>A X 79975138 HNSC C T Missense p.E748K c.2242G>A X 79971739 LUSC C T Missense p.G1677E c.5030G>A X 79932487 LUSC C T Missense p.G1708E c.5123G>A X 79932394 CM C T Missense p.G636E c.1907G>A X 79975125 STAD C T Missense p.G831D c.2492G>A X 79962986 BRCA C T Missense p.G865R c.2593G>A X 79960305 CM C T Missense p.R1149Q c.3446G>A X 79947357 SCLC C T Missense p.R157H c.470G>A X 80001189 HNSC C T Missense p.R1725Q c.5174G>A X 79932343 BRCA C T Missense p.R497Q c.1490G>A X 79980463 STAD C T Missense p.R562H c.1685G>A X 79978252 NB C T Missense p.S327N c.980G>A X 79990631 BRCA C T Missense p.S376N c.1127G>A X 79988955 UCEC C T Missense p.V1168I c.3502G>A X 79946652 LUSC C T Missense p.V470I c.1408G>A X 79980545 UCEC C T Missense p.V605I c.1813G>A X 79978124 HNSC C T Nonsense p.W1679* c.5037G>A X 79932480 UCEC C T SpliceDonorSNV . c.3728+1G>A X 79945465 UCEC C T SpliceDonorSNV . c.430+1G>A X 80047352 BRCA C T Synonymous p.E1339E c.4017G>A X 79941024 RCCC C T Synonymous p.Q554Q c.1662G>A X 79978275 CM C T Synonymous p.R1793R c.5379G>A X 79932138 STAD G A 3-UTRSNV . c.5406+2617C>T X 79929494 DLBCL G A IntronicSNV . c.2326-946C>T X 79966022 CM G A IntronicSNV . c.813+62C>T X 79999469 CM G A Missense p.H1640Y c.4918C>T X 79932599 CM G A Missense p.L1239F c.3715C>T X 79945479 CM G A Missense p.L1331F c.3991C>T X 79942376 CM G A Missense p.P1028S c.3082C>T X 79951476 STAD G A Missense p.P475L c.1424C>T X 79980529 LUAD G A Missense p.P586S c.1756C>T X 79978181 NB G A Missense p.P672S c.2014C>T X 79975018 LUAD G A Missense p.R219C c.655C>T X 79999689 CM G A Missense p.R219C c.655C>T X 79999689 HNSC G A Missense p.R433C c.1297C>T X 79984340 CM G A Missense p.R497W c.1489C>T X 79980464 BRCA G A Missense p.R787C c.2359C>T X 79965043 COREAD G A Missense p.R880C c.2638C>T X 79960260 GBM G A Missense p.S1142F c.3425C>T X 79947378 CM G A Missense p.S1142F c.3425C>T X 79947378 HNSC G A Missense p.S1284L c.3851C>T X 79943581 CM G A Missense p.S1496L c.4487C>T X 79937504 ESCA G A Missense p.S1500L c.4499C>T X 79936995 CM G A Missense p.S1554F c.4661C>T X 79932856 CM G A Missense p.S1621F c.4862C>T X 79932655 CM G A Missense p.S1629F c.4886C>T X 79932631 CM G A Nonsense p.Q1134* c.3400C>T X 79947403 CM G A Nonsense p.Q1245* c.3733C>T X 79945341 CM G A Nonsense p.Q30* c.88C>T X 80064747 LUSC G A Nonsense p.R1418* c.4252C>T X 79938109 GBM G A Nonsense p.R1725* c.5173C>T X 79932344 STAD G A Synonymous p.D1481D c.4443C>T X 79937548 CM G A Synonymous p.F469F c.1407C>T X 79980546 CM G A Synonymous p.F601F c.1803C>T X 79978134 CM G A Synonymous p.I1430I c.4290C>T X 79938071 CM G A Synonymous p.I453I c.1359C>T X 79984278 CM G A Synonymous p.N372N c.1116C>T X 79988966 OV G A Synonymous p.P1558P c.4674C>T X 79932843 CM G A Synonymous p.T1735T c.5205C>T X 79932312 LGG G C Missense p.A1792G c.5375C>G X 79932142 LUAD G C Missense p.L1251V c.3751C>G X 79945323 COREAD G C Missense p.L647V c.1939C>G X 79975093 LUSC G C Missense p.N231K c.693C>G X 79999651 LUSC G C Missense p.P1165R c.3494C>G X 79946660 HNSC G C Missense p.P308R c.923C>G X 79990688 BRCA G C Nonsense p.S1500* c.4499C>G X 79936995 OV GG AA Missense p.R934* c.2799_2800delinsTT X 79959014 CM G T Missense p.A1464E c.4391C>A X 79937970 BRCA G T Missense p.D227E c.681C>A X 79999663 HNSC G T Missense p.H160N c.478C>A X 80001181 LUAD G T Missense p.H298N c.892C>A X 79991509 SCLC G T Missense p.H582Q c.1746C>A X 79978191 LUSC G T Missense p.L660M c.1978C>A X 79975054 LUAD G T Missense p.Q642K c.1924C>A X 79975108 LUSC G T Synonymous p.T147T c.441C>A X 80001218 LUAD G T Synonymous p.T1648T c.4944C>A X 79932573 COREAD T A 3-UTRSNV . c.5406+2545A>T X 79929566 MB T A IntronicSNV . c.2231+11A>T X 79973061 NSCLC T A Missense p.K1653N c.4959A>T X 79932558 UCEC T A Missense p.K1748I c.5243A>T X 79932274 CM T A Missense p.R1699S c.5097A>T X 79932420 BRCA T A Missense p.T1631S c.4891A>T X 79932626 HNSC T A Nonsense p.K892* c.2674A>T X 79960224 HNSC T A Synonymous p.I270I c.810A>T X 79999534 LUSC T C Missense p.D363G c.1088A>G X 79988994 HNSC T C Missense p.H1534R c.4601A>G X 79936893 LUAD T C Missense p.H534R c.1601A>G X 79979296 HNSC T C Missense p.I1213V c.3637A>G X 79945557 HC T C Missense p.N373S c.1118A>G X 79988964 AML T C Missense p.R732G c.2194A>G X 79973109 SCLC T C Missense p.S1462G c.4384A>G X 79937977 LUAD T C Synonymous p.G1382G c.4146A>G X 79939596 RCCC T C Synonymous p.G1610G c.4830A>G X 79932687 BRCA T C Synonymous p.L1508L c.4524A>G X 79936970 LUAD T C Synonymous p.R1663R c.4989A>G X 79932528 CM T - Frameshift p.K1307Nfs*7 c.3921delA X 79942446 STAD T G 3-UTRSNV . c.5406+4900A>C X 79927211 DLBCL T G IntronicSNV . c.4654+101A>C X 79936739 CLL T G Missense p.T1186P c.3556A>C X 79946598 COREAD