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 14 24617561 24617561 + Missense_Mutation SNP A A C TCGA-OR-A5KB-01A-11D-A30A-10 TCGA-OR-A5KB-11A-11D-A30A-10 g.chr14:24617561A>C c.434A>C c.(433-435)cAg>cCg p.Q145P ACC 14 24619809 24619809 + Frame_Shift_Del DEL G G - TCGA-PK-A5HB-01A-11D-A29I-10 TCGA-PK-A5HB-11A-11D-A29L-10 g.chr14:24619809delG c.1200delG c.(1198-1200)cagfs p.Q400fs BLCA 14 24617000 24617000 + Silent SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 g.chr14:24617000G>A c.93G>A c.(91-93)ctG>ctA p.L31L BLCA 14 24617001 24617001 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 g.chr14:24617001G>A c.94G>A c.(94-96)Gag>Aag p.E32K BLCA 14 24617067 24617067 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-11A-11D-A18F-08 g.chr14:24617067G>A c.160G>A c.(160-162)Gca>Aca p.A54T BLCA 14 24617580 24617580 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr14:24617580G>A c.453G>A c.(451-453)ctG>ctA p.L151L BLCA 14 24617902 24617902 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 g.chr14:24617902G>A c.547G>A c.(547-549)Gaa>Aaa p.E183K BLCA 14 24619440 24619440 + Missense_Mutation SNP G G A TCGA-KQ-A41O-01A-12D-A34U-08 TCGA-KQ-A41O-10D-01D-A34X-08 g.chr14:24619440G>A c.980G>A c.(979-981)cGa>cAa p.R327Q BLCA 14 24619469 24619469 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 g.chr14:24619469G>A c.1009G>A c.(1009-1011)Gag>Aag p.E337K BLCA 14 24619496 24619496 + Missense_Mutation SNP G G C TCGA-DK-AA6Q-01A-11D-A391-08 TCGA-DK-AA6Q-10A-01D-A394-08 g.chr14:24619496G>C c.1036G>C c.(1036-1038)Gaa>Caa p.E346Q BLCA 14 24619594 24619594 + Silent SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 g.chr14:24619594G>A c.1134G>A c.(1132-1134)ctG>ctA p.L378L BLCA 14 24620038 24620038 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 g.chr14:24620038G>A c.1429G>A c.(1429-1431)Gag>Aag p.E477K BLCA 14 24620550 24620550 + Missense_Mutation SNP G G A TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 g.chr14:24620550G>A c.1699G>A c.(1699-1701)Gaa>Aaa p.E567K BLCA 14 24621199 24621199 + Missense_Mutation SNP C C T TCGA-UY-A9PF-01A-11D-A38G-08 TCGA-UY-A9PF-10A-01D-A38J-08 g.chr14:24621199C>T c.2128C>T c.(2128-2130)Cgg>Tgg p.R710W BLCA 14 24624500 24624500 + Missense_Mutation SNP C C A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 g.chr14:24624500C>A c.2265C>A c.(2263-2265)gaC>gaA p.D755E BLCA 14 24624860 24624860 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 g.chr14:24624860C>T c.2452C>T c.(2452-2454)Ccc>Tcc p.P818S BRCA 14 24617078 24617078 + Silent SNP C C T TCGA-GM-A2DD-01A-11D-A17W-09 TCGA-GM-A2DD-10C-01D-A17W-09 g.chr14:24617078C>T c.171C>T c.(169-171)gtC>gtT p.V57V BRCA 14 24617260 24617260 + Nonsense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 g.chr14:24617260C>T c.268C>T c.(268-270)Cag>Tag p.Q90* BRCA 14 24619840 24619840 + Missense_Mutation SNP C C G TCGA-E2-A1IH-01A-11D-A188-09 TCGA-E2-A1IH-10A-01D-A13O-09 g.chr14:24619840C>G c.1231C>G c.(1231-1233)Caa>Gaa p.Q411E BRCA 14 24620062 24620062 + Missense_Mutation SNP C C T TCGA-D8-A3Z6-01A-11D-A23C-09 TCGA-D8-A3Z6-10A-01D-A23C-09 g.chr14:24620062C>T c.1453C>T c.(1453-1455)Cgg>Tgg p.R485W BRCA 14 24626762 24626762 + Missense_Mutation SNP C C T TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr14:24626762C>T c.2642C>T c.(2641-2643)gCc>gTc p.A881V CESC 14 24619469 24619469 + Missense_Mutation SNP G G A TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 g.chr14:24619469G>A c.1009G>A c.(1009-1011)Gag>Aag p.E337K CESC 14 24626844 24626844 + Missense_Mutation SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 g.chr14:24626844G>C c.2724G>C c.(2722-2724)aaG>aaC p.K908N COAD 14 24617532 24617532 + Silent SNP C C T TCGA-D5-6920-01A-11D-1924-10 TCGA-D5-6920-10A-01D-1924-10 g.chr14:24617532C>T c.405C>T c.(403-405)ccC>ccT p.P135P COAD 14 24619654 24619654 + Silent SNP T T A TCGA-AA-3662-01A-01D-1719-10 TCGA-AA-3662-11A-01D-1719-10 g.chr14:24619654T>A c.1194T>A c.(1192-1194)ctT>ctA p.L398L COAD 14 24619654 24619654 + Silent SNP T T C TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr14:24619654T>C c.1194T>C c.(1192-1194)ctT>ctC p.L398L COAD 14 24619654 24619654 + Silent SNP T T C TCGA-G4-6626-01A-11D-1771-10 TCGA-G4-6626-10A-01D-1771-10 g.chr14:24619654T>C c.1194T>C c.(1192-1194)ctT>ctC p.L398L COAD 14 24619809 24619809 + Frame_Shift_Del DEL G G - TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr14:24619809delG c.1200delG c.(1198-1200)cagfs p.Q400fs COAD 14 24619910 24619910 + Missense_Mutation SNP G G A TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr14:24619910G>A c.1301G>A c.(1300-1302)cGg>cAg p.R434Q COAD 14 24619975 24619975 + Frame_Shift_Del DEL C C - TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr14:24619975delC c.1366delC c.(1366-1368)cccfs p.P457fs COAD 14 24621025 24621025 + Missense_Mutation SNP G G A TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr14:24621025G>A c.1954G>A c.(1954-1956)Gca>Aca p.A652T COAD 14 24626515 24626515 + Missense_Mutation SNP G G A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr14:24626515G>A c.2510G>A c.(2509-2511)cGa>cAa p.R837Q COAD 14 24626595 24626595 + Missense_Mutation SNP C C T TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr14:24626595C>T c.2590C>T c.(2590-2592)Ctt>Ttt p.L864F COAD 14 24626606 24626606 + Silent SNP C C T TCGA-AA-3821-01A-01W-0995-10 TCGA-AA-3821-10A-01W-0995-10 g.chr14:24626606C>T c.2601C>T c.(2599-2601)aaC>aaT p.N867N COAD 14 24626802 24626802 + Silent SNP C C T TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr14:24626802C>T c.2682C>T c.(2680-2682)cgC>cgT p.R894R COAD 14 24629074 24629074 + Splice_Site SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr14:24629074C>A c.2901C>A c.(2899-2901)ggC>ggA p.G967G COAD 14 24629764 24629764 + Frame_Shift_Del DEL C C - TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr14:24629764delC c.3201delC c.(3199-3201)atcfs p.I1067fs COADREAD 14 24617532 24617532 + Silent SNP C C T TCGA-D5-6920-01A-11D-1924-10 TCGA-D5-6920-10A-01D-1924-10 g.chr14:24617532C>T c.405C>T c.(403-405)ccC>ccT p.P135P COADREAD 14 24619654 24619654 + Silent SNP T T A TCGA-AA-3662-01A-01D-1719-10 TCGA-AA-3662-11A-01D-1719-10 g.chr14:24619654T>A c.1194T>A c.(1192-1194)ctT>ctA p.L398L COADREAD 14 24619654 24619654 + Silent SNP T T C TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr14:24619654T>C c.1194T>C c.(1192-1194)ctT>ctC p.L398L COADREAD 14 24619654 24619654 + Silent SNP T T C TCGA-G4-6626-01A-11D-1771-10 TCGA-G4-6626-10A-01D-1771-10 g.chr14:24619654T>C c.1194T>C c.(1192-1194)ctT>ctC p.L398L COADREAD 14 24619809 24619809 + Frame_Shift_Del DEL G G - TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr14:24619809delG c.1200delG c.(1198-1200)cagfs p.Q400fs COADREAD 14 24619910 24619910 + Missense_Mutation SNP G G A TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr14:24619910G>A c.1301G>A c.(1300-1302)cGg>cAg p.R434Q COADREAD 14 24619975 24619975 + Frame_Shift_Del DEL C C - TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr14:24619975delC c.1366delC c.(1366-1368)cccfs p.P457fs COADREAD 14 24621025 24621025 + Missense_Mutation SNP G G A TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr14:24621025G>A c.1954G>A c.(1954-1956)Gca>Aca p.A652T COADREAD 14 24626515 24626515 + Missense_Mutation SNP G G A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr14:24626515G>A c.2510G>A c.(2509-2511)cGa>cAa p.R837Q COADREAD 14 24626595 24626595 + Missense_Mutation SNP C C T TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr14:24626595C>T c.2590C>T c.(2590-2592)Ctt>Ttt p.L864F COADREAD 14 24626606 24626606 + Silent SNP C C T TCGA-AA-3821-01A-01W-0995-10 TCGA-AA-3821-10A-01W-0995-10 g.chr14:24626606C>T c.2601C>T c.(2599-2601)aaC>aaT p.N867N COADREAD 14 24626802 24626802 + Silent SNP C C T TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr14:24626802C>T c.2682C>T c.(2680-2682)cgC>cgT p.R894R COADREAD 14 24626832 24626832 + Silent SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr14:24626832C>A c.2712C>A c.(2710-2712)gcC>gcA p.A904A COADREAD 14 24629074 24629074 + Splice_Site SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr14:24629074C>A c.2901C>A c.(2899-2901)ggC>ggA p.G967G COADREAD 14 24629764 24629764 + Frame_Shift_Del DEL C C - TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr14:24629764delC c.3201delC c.(3199-3201)atcfs p.I1067fs DLBC 14 24620710 24620710 + Missense_Mutation SNP C C G TCGA-G8-6906-01A-11D-2210-10 TCGA-G8-6906-14A-01D-2210-10 g.chr14:24620710C>G c.1754C>G c.(1753-1755)tCt>tGt p.S585C DLBC 14 24620821 24620821 + Missense_Mutation SNP A A T TCGA-G8-6906-01A-11D-2210-10 TCGA-G8-6906-14A-01D-2210-10 g.chr14:24620821A>T c.1865A>T c.(1864-1866)cAg>cTg p.Q622L ESCA 14 24617471 24617471 + Missense_Mutation SNP G G A TCGA-2H-A9GJ-01A-11D-A37C-09 TCGA-2H-A9GJ-11A-11D-A37F-09 g.chr14:24617471G>A c.344G>A c.(343-345)gGc>gAc p.G115D ESCA 14 24621199 24621199 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 g.chr14:24621199C>T c.2128C>T c.(2128-2130)Cgg>Tgg p.R710W GBM 14 24620756 24620756 + Missense_Mutation SNP G G C TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 g.chr14:24620756G>C c.1800G>C c.(1798-1800)caG>caC p.Q600H GBM 14 24627141 24627141 + Missense_Mutation SNP C C A TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 g.chr14:24627141C>A c.2762C>A c.(2761-2763)tCc>tAc p.S921Y GBMLGG 14 24619440 24619440 + Missense_Mutation SNP G G T TCGA-DB-A4XH-01A-11D-A27K-08 TCGA-DB-A4XH-10A-01D-A27N-08 g.chr14:24619440G>T c.980G>T c.(979-981)cGa>cTa p.R327L GBMLGG 14 24619441 24619441 + Silent SNP A A T TCGA-DB-A4XH-01A-11D-A27K-08 TCGA-DB-A4XH-10A-01D-A27N-08 g.chr14:24619441A>T c.981A>T c.(979-981)cgA>cgT p.R327R GBMLGG 14 24620580 24620580 + Nonsense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr14:24620580C>T c.1729C>T c.(1729-1731)Cga>Tga p.R577* GBMLGG 14 24620756 24620756 + Missense_Mutation SNP G G C TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 g.chr14:24620756G>C c.1800G>C c.(1798-1800)caG>caC p.Q600H GBMLGG 14 24621172 24621172 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr14:24621172G>A c.2101G>A c.(2101-2103)Gtg>Atg p.V701M GBMLGG 14 24626551 24626551 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr14:24626551G>T c.2546G>T c.(2545-2547)cGc>cTc p.R849L GBMLGG 14 24627141 24627141 + Missense_Mutation SNP C C A TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 g.chr14:24627141C>A c.2762C>A c.(2761-2763)tCc>tAc p.S921Y GBMLGG 14 24629769 24629769 + Missense_Mutation SNP G G A TCGA-HT-8564-01A-11D-2395-08 TCGA-HT-8564-10A-01D-2396-08 g.chr14:24629769G>A c.3206G>A c.(3205-3207)cGc>cAc p.R1069H HNSC 14 24617533 24617533 + Nonsense_Mutation SNP G G T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 g.chr14:24617533G>T c.406G>T c.(406-408)Gaa>Taa p.E136* HNSC 14 24618025 24618025 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 g.chr14:24618025G>C c.571G>C c.(571-573)Gaa>Caa p.E191Q HNSC 14 24624491 24624491 + Silent SNP C C G TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 g.chr14:24624491C>G c.2256C>G c.(2254-2256)ctC>ctG p.L752L HNSC 14 24629157 24629157 + Missense_Mutation SNP C C T TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 g.chr14:24629157C>T c.2984C>T c.(2983-2985)gCc>gTc p.A995V HNSC 14 24629560 24629560 + Missense_Mutation SNP C C T TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 g.chr14:24629560C>T c.3109C>T c.(3109-3111)Cgc>Tgc p.R1037C KIPAN 14 24617213 24617213 + Missense_Mutation SNP C C G TCGA-B9-4114-01A-01D-1252-08 TCGA-B9-4114-10A-01D-1252-08 g.chr14:24617213C>G c.221C>G c.(220-222)aCg>aGg p.T74R KIPAN 14 24617487 24617487 + Silent SNP A A G TCGA-B0-5705-01A-11D-1534-10 TCGA-B0-5705-11A-01D-1534-10 g.chr14:24617487A>G c.360A>G c.(358-360)cgA>cgG p.R120R KIPAN 14 24619565 24619565 + Silent SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr14:24619565C>T c.1105C>T c.(1105-1107)Cta>Tta p.L369L KIPAN 14 24626550 24626550 + Missense_Mutation SNP C C T TCGA-BQ-7051-01A-12D-1961-08 TCGA-BQ-7051-11A-02D-1961-08 g.chr14:24626550C>T c.2545C>T c.(2545-2547)Cgc>Tgc p.R849C KIRC 14 24617487 24617487 + Silent SNP A A G TCGA-B0-5705-01A-11D-1534-10 TCGA-B0-5705-11A-01D-1534-10 g.chr14:24617487A>G c.360A>G c.(358-360)cgA>cgG p.R120R KIRC 14 24619565 24619565 + Silent SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr14:24619565C>T c.1105C>T c.(1105-1107)Cta>Tta p.L369L KIRP 14 24617213 24617213 + Missense_Mutation SNP C C G TCGA-B9-4114-01A-01D-1252-08 TCGA-B9-4114-10A-01D-1252-08 g.chr14:24617213C>G c.221C>G c.(220-222)aCg>aGg p.T74R KIRP 14 24626550 24626550 + Missense_Mutation SNP C C T TCGA-BQ-7051-01A-12D-1961-08 TCGA-BQ-7051-11A-02D-1961-08 g.chr14:24626550C>T c.2545C>T c.(2545-2547)Cgc>Tgc p.R849C LGG 14 24619440 24619440 + Missense_Mutation SNP G G T TCGA-DB-A4XH-01A-11D-A27K-08 TCGA-DB-A4XH-10A-01D-A27N-08 g.chr14:24619440G>T c.980G>T c.(979-981)cGa>cTa p.R327L LGG 14 24619441 24619441 + Silent SNP A A T TCGA-DB-A4XH-01A-11D-A27K-08 TCGA-DB-A4XH-10A-01D-A27N-08 g.chr14:24619441A>T c.981A>T c.(979-981)cgA>cgT p.R327R LGG 14 24620580 24620580 + Nonsense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr14:24620580C>T c.1729C>T c.(1729-1731)Cga>Tga p.R577* LGG 14 24621172 24621172 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr14:24621172G>A c.2101G>A c.(2101-2103)Gtg>Atg p.V701M LGG 14 24626551 24626551 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr14:24626551G>T c.2546G>T c.(2545-2547)cGc>cTc p.R849L LGG 14 24629769 24629769 + Missense_Mutation SNP G G A TCGA-HT-8564-01A-11D-2395-08 TCGA-HT-8564-10A-01D-2396-08 g.chr14:24629769G>A c.3206G>A c.(3205-3207)cGc>cAc p.R1069H LIHC 14 24617276 24617276 + Nonsense_Mutation SNP G G A TCGA-DD-AAE7-01A-11D-A40R-10 TCGA-DD-AAE7-10A-01D-A40U-10 g.chr14:24617276G>A c.284G>A c.(283-285)tGg>tAg p.W95* LIHC 14 24617329 24617329 + Missense_Mutation SNP C C A TCGA-ES-A2HT-01A-12D-A183-10 TCGA-ES-A2HT-11A-11D-A183-10 g.chr14:24617329C>A c.337C>A c.(337-339)Cag>Aag p.Q113K LIHC 14 24618693 24618693 + Missense_Mutation SNP G G T TCGA-DD-A4NI-01A-11D-A27I-10 TCGA-DD-A4NI-10A-01D-A27I-10 g.chr14:24618693G>T c.710G>T c.(709-711)tGt>tTt p.C237F LIHC 14 24618770 24618770 + Nonsense_Mutation SNP C C T TCGA-CC-A3MB-01A-11D-A20W-10 TCGA-CC-A3MB-10A-01D-A20W-10 g.chr14:24618770C>T c.787C>T c.(787-789)Cag>Tag p.Q263* LIHC 14 24620416 24620416 + Missense_Mutation SNP A A T TCGA-DD-AAC8-01A-11D-A40R-10 TCGA-DD-AAC8-10A-01D-A40U-10 g.chr14:24620416A>T c.1565A>T c.(1564-1566)cAg>cTg p.Q522L LIHC 14 24621043 24621043 + Silent SNP C C A TCGA-EP-A2KB-01A-11D-A183-10 TCGA-EP-A2KB-10A-01D-A183-10 g.chr14:24621043C>A c.1972C>A c.(1972-1974)Cgg>Agg p.R658R LUAD 14 24617533 24617533 + Missense_Mutation SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 g.chr14:24617533G>A c.406G>A c.(406-408)Gaa>Aaa p.E136K LUAD 14 24618772 24618772 + Missense_Mutation SNP G G C TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 g.chr14:24618772G>C c.789G>C c.(787-789)caG>caC p.Q263H LUAD 14 24619313 24619313 + Silent SNP C C T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 g.chr14:24619313C>T c.853C>T c.(853-855)Ctg>Ttg p.L285L LUAD 14 24619469 24619469 + Missense_Mutation SNP G G C TCGA-50-5044-01A-21D-1855-08 TCGA-50-5044-10A-01D-1855-08 g.chr14:24619469G>C c.1009G>C c.(1009-1011)Gag>Cag p.E337Q LUAD 14 24619890 24619890 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 g.chr14:24619890G>T c.1281G>T c.(1279-1281)tgG>tgT p.W427C LUAD 14 24619987 24619987 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 g.chr14:24619987G>T c.1378G>T c.(1378-1380)Ggg>Tgg p.G460W LUAD 14 24620512 24620512 + Missense_Mutation SNP C C G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 g.chr14:24620512C>G c.1661C>G c.(1660-1662)gCc>gGc p.A554G LUAD 14 24620756 24620756 + Missense_Mutation SNP G G T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 g.chr14:24620756G>T c.1800G>T c.(1798-1800)caG>caT p.Q600H LUAD 14 24620762 24620762 + Silent SNP A A T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 g.chr14:24620762A>T c.1806A>T c.(1804-1806)ggA>ggT p.G602G LUAD 14 24621036 24621036 + Silent SNP C C T TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 g.chr14:24621036C>T c.1965C>T c.(1963-1965)agC>agT p.S655S LUAD 14 24621044 24621044 + Missense_Mutation SNP G G T TCGA-17-Z055-01A-01W-0747-08 TCGA-17-Z055-11A-01W-0747-08 g.chr14:24621044G>T c.1973G>T c.(1972-1974)cGg>cTg p.R658L LUAD 14 24624848 24624848 + Missense_Mutation SNP G G C TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 g.chr14:24624848G>C c.2440G>C c.(2440-2442)Gag>Cag p.E814Q LUAD 14 24624871 24624871 + Silent SNP C C T TCGA-55-8614-01A-11D-2393-08 TCGA-55-8614-10A-01D-2393-08 g.chr14:24624871C>T c.2463C>T c.(2461-2463)caC>caT p.H821H LUAD 14 24627384 24627384 + Missense_Mutation SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 g.chr14:24627384G>C c.2875G>C c.(2875-2877)Gct>Cct p.A959P LUAD 14 24629542 24629542 + Missense_Mutation SNP G G A TCGA-17-Z022-01A-01W-0746-08 TCGA-17-Z022-11A-01W-0746-08 g.chr14:24629542G>A c.3091G>A c.(3091-3093)Gag>Aag p.E1031K LUSC 14 24618034 24618034 + Missense_Mutation SNP C C G TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 g.chr14:24618034C>G c.580C>G c.(580-582)Ccc>Gcc p.P194A LUSC 14 24619858 24619858 + Missense_Mutation SNP C C A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 g.chr14:24619858C>A c.1249C>A c.(1249-1251)Cac>Aac p.H417N LUSC 14 24624472 24624472 + Missense_Mutation SNP C C T TCGA-37-5819-01A-01D-1632-08 TCGA-37-5819-10A-01D-1632-08 g.chr14:24624472C>T c.2237C>T c.(2236-2238)gCc>gTc p.A746V LUSC 14 24626559 24626559 + Missense_Mutation SNP G G T TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 g.chr14:24626559G>T c.2554G>T c.(2554-2556)Gac>Tac p.D852Y LUSC 14 24626791 24626791 + Missense_Mutation SNP A A T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 g.chr14:24626791A>T c.2671A>T c.(2671-2673)Acc>Tcc p.T891S OV 14 24619652 24619652 + Missense_Mutation SNP C C A TCGA-04-1356-01A-01W-0492-08 TCGA-04-1356-11A-01W-0492-08 g.chr14:24619652C>A c.1192C>A c.(1192-1194)Ctt>Att p.L398I PAAD 14 24617572 24617572 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr14:24617572G>A c.445G>A c.(445-447)Gtc>Atc p.V149I PAAD 14 24619877 24619877 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr14:24619877C>T c.1268C>T c.(1267-1269)tCg>tTg p.S423L PAAD 14 24619958 24619958 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr14:24619958G>T c.1349G>T c.(1348-1350)aGc>aTc p.S450I PAAD 14 24624403 24624403 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr14:24624403C>A c.2168C>A c.(2167-2169)cCt>cAt p.P723H PAAD 14 24624885 24624885 + Missense_Mutation SNP T T C TCGA-S4-A8RO-01A-12D-A377-08 TCGA-S4-A8RO-10A-01D-A37A-08 g.chr14:24624885T>C c.2477T>C c.(2476-2478)gTg>gCg p.V826A PCPG 14 24629074 24629074 + Splice_Site SNP C C T TCGA-RW-A68C-01A-11D-A35D-08 TCGA-RW-A68C-10A-01D-A35B-08 g.chr14:24629074C>T c.2901C>T c.(2899-2901)ggC>ggT p.G967G PRAD 14 24617597 24617597 + Missense_Mutation SNP G G A TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 g.chr14:24617597G>A c.470G>A c.(469-471)cGg>cAg p.R157Q PRAD 14 24618082 24618082 + Missense_Mutation SNP C C A TCGA-EJ-7781-01A-11D-2114-08 TCGA-EJ-7781-10A-01D-2114-08 g.chr14:24618082C>A c.628C>A c.(628-630)Cca>Aca p.P210T PRAD 14 24619808 24619809 + Splice_Site INS - - G TCGA-FC-7708-01A-11D-2114-08 TCGA-FC-7708-10A-01D-2115-08 g.chr14:24619808_24619809insG c.1199_1200insG c.(1198-1203)cagggg>caGgggg p.QG400fs PRAD 14 24619809 24619809 + Frame_Shift_Del DEL G G - TCGA-KK-A59V-01A-11D-A29Q-08 TCGA-KK-A59V-11A-11D-A29Q-08 g.chr14:24619809delG c.1200delG c.(1198-1200)cagfs p.Q400fs PRAD 14 24621084 24621085 + Frame_Shift_Del DEL GA GA - TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 g.chr14:24621084_24621085delGA c.2013_2014delGA c.(2011-2016)aggaacfs p.N672fs PRAD 14 24626800 24626800 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr14:24626800C>T c.2680C>T c.(2680-2682)Cgc>Tgc p.R894C READ 14 24626832 24626832 + Silent SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr14:24626832C>A c.2712C>A c.(2710-2712)gcC>gcA p.A904A SARC 14 24620802 24620802 + Missense_Mutation SNP C C T TCGA-DX-A6BF-01A-11D-A307-09 TCGA-DX-A6BF-10A-01D-A307-09 g.chr14:24620802C>T c.1846C>T c.(1846-1848)Cgc>Tgc p.R616C SKCM 14 24618631 24618631 + Silent SNP C C T TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr14:24618631C>T c.648C>T c.(646-648)ccC>ccT p.P216P SKCM 14 24618730 24618730 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 g.chr14:24618730C>T c.747C>T c.(745-747)tcC>tcT p.S249S SKCM 14 24618780 24618780 + Missense_Mutation SNP A A T TCGA-DA-A1HW-06A-11D-A19A-08 TCGA-DA-A1HW-10A-01D-A19A-08 g.chr14:24618780A>T c.797A>T c.(796-798)cAc>cTc p.H266L SKCM 14 24619927 24619927 + Missense_Mutation SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr14:24619927C>T c.1318C>T c.(1318-1320)Cca>Tca p.P440S SKCM 14 24619941 24619941 + Silent SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 g.chr14:24619941C>T c.1332C>T c.(1330-1332)gcC>gcT p.A444A SKCM 14 24619980 24619980 + Silent SNP C C T TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chr14:24619980C>T c.1371C>T c.(1369-1371)ccC>ccT p.P457P SKCM 14 24619993 24619993 + Missense_Mutation SNP C C T TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr14:24619993C>T c.1384C>T c.(1384-1386)Cca>Tca p.P462S SKCM 14 24620500 24620500 + Missense_Mutation SNP C C T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 g.chr14:24620500C>T c.1649C>T c.(1648-1650)tCc>tTc p.S550F SKCM 14 24620532 24620532 + Missense_Mutation SNP C C T TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 g.chr14:24620532C>T c.1681C>T c.(1681-1683)Cgt>Tgt p.R561C SKCM 14 24620799 24620799 + Nonsense_Mutation SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 g.chr14:24620799C>T c.1843C>T c.(1843-1845)Caa>Taa p.Q615* SKCM 14 24621198 24621198 + Silent SNP C C T TCGA-EE-A2M5-06A-12D-A197-08 TCGA-EE-A2M5-10A-01D-A199-08 g.chr14:24621198C>T c.2127C>T c.(2125-2127)aaC>aaT p.N709N SKCM 14 24621199 24621199 + Missense_Mutation SNP C C T TCGA-EE-A2M5-06A-12D-A197-08 TCGA-EE-A2M5-10A-01D-A199-08 g.chr14:24621199C>T c.2128C>T c.(2128-2130)Cgg>Tgg p.R710W SKCM 14 24624861 24624861 + Missense_Mutation SNP C C T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 g.chr14:24624861C>T c.2453C>T c.(2452-2454)cCc>cTc p.P818L SKCM 14 24627402 24627402 + Missense_Mutation SNP C C T TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chr14:24627402C>T c.2893C>T c.(2893-2895)Cct>Tct p.P965S

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 14 24619341 24619341 single base substitution C A 3_prime_UTR_variant BLCA-CN 14 24619341 24619341 single base substitution C A downstream_gene_variant BLCA-CN 14 24619341 24619341 single base substitution C A exon_variant BLCA-CN 14 24619341 24619341 single base substitution C A intron_variant BLCA-CN 14 24619341 24619341 single base substitution C A missense_variant S109Y 326C>A BLCA-CN 14 24619341 24619341 single base substitution C A missense_variant S143Y 428C>A BLCA-CN 14 24619341 24619341 single base substitution C A missense_variant S194Y 581C>A BLCA-CN 14 24619341 24619341 single base substitution C A missense_variant S294Y 881C>A BLCA-CN 14 24619341 24619341 single base substitution C A upstream_gene_variant BLCA-CN 14 24629601 24629601 single base substitution G T 3_prime_UTR_variant BLCA-CN 14 24629601 24629601 single base substitution G T downstream_gene_variant BLCA-CN 14 24629601 24629601 single base substitution G T exon_variant BLCA-CN 14 24629601 24629601 single base substitution G T missense_variant Q1050H 3150G>T BLCA-CN 14 24629601 24629601 single base substitution G T missense_variant Q142H 426G>T BLCA-CN 14 24629601 24629601 single base substitution G T missense_variant Q894H 2682G>T BLCA-CN 14 24629601 24629601 single base substitution G T missense_variant Q899H 2697G>T BLCA-CN 14 24631382 24631382 single base substitution G A downstream_gene_variant BLCA-CN 14 24632237 24632237 single base substitution G A downstream_gene_variant BLCA-US 14 24617580 24617580 single base substitution G A 5_prime_UTR_variant BLCA-US 14 24617580 24617580 single base substitution G A downstream_gene_variant BLCA-US 14 24617580 24617580 single base substitution G A exon_variant BLCA-US 14 24617580 24617580 single base substitution G A intron_variant BLCA-US 14 24617580 24617580 single base substitution G A synonymous_variant L151L 453G>A BLCA-US 14 24617580 24617580 single base substitution G A synonymous_variant L51L 153G>A BLCA-US 14 24617580 24617580 single base substitution G A upstream_gene_variant BLCA-US 14 24617902 24617902 single base substitution G A 5_prime_UTR_variant BLCA-US 14 24617902 24617902 single base substitution G A downstream_gene_variant BLCA-US 14 24617902 24617902 single base substitution G A exon_variant BLCA-US 14 24617902 24617902 single base substitution G A intron_variant BLCA-US 14 24617902 24617902 single base substitution G A missense_variant E183K 547G>A BLCA-US 14 24617902 24617902 single base substitution G A missense_variant E32K 94G>A BLCA-US 14 24617902 24617902 single base substitution G A missense_variant E83K 247G>A BLCA-US 14 24617902 24617902 single base substitution G A upstream_gene_variant BLCA-US 14 24619469 24619469 single base substitution G A 3_prime_UTR_variant BLCA-US 14 24619469 24619469 single base substitution G A downstream_gene_variant BLCA-US 14 24619469 24619469 single base substitution G A intron_variant BLCA-US 14 24619469 24619469 single base substitution G A missense_variant E186K 556G>A BLCA-US 14 24619469 24619469 single base substitution G A missense_variant E237K 709G>A BLCA-US 14 24619469 24619469 single base substitution G A missense_variant E337K 1009G>A BLCA-US 14 24619469 24619469 single base substitution G A upstream_gene_variant BLCA-US 14 24619594 24619594 single base substitution G A downstream_gene_variant BLCA-US 14 24619594 24619594 single base substitution G A intron_variant BLCA-US 14 24619594 24619594 single base substitution G A synonymous_variant L227L 681G>A BLCA-US 14 24619594 24619594 single base substitution G A synonymous_variant L278L 834G>A BLCA-US 14 24619594 24619594 single base substitution G A synonymous_variant L378L 1134G>A BLCA-US 14 24619594 24619594 single base substitution G A upstream_gene_variant BLCA-US 14 24620038 24620038 single base substitution G A downstream_gene_variant BLCA-US 14 24620038 24620038 single base substitution G A intron_variant BLCA-US 14 24620038 24620038 single base substitution G A missense_variant E326K 976G>A BLCA-US 14 24620038 24620038 single base substitution G A missense_variant E377K 1129G>A BLCA-US 14 24620038 24620038 single base substitution G A missense_variant E477K 1429G>A BLCA-US 14 24620038 24620038 single base substitution G A upstream_gene_variant BLCA-US 14 24631433 24631433 single base substitution G A downstream_gene_variant BLCA-US 14 24633132 24633134 deletion of <=200bp AGC - downstream_gene_variant BRCA-EU 14 24615336 24615336 deletion of <=200bp G - upstream_gene_variant BRCA-EU 14 24615398 24615398 single base substitution C G upstream_gene_variant BRCA-EU 14 24615539 24615539 single base substitution A G upstream_gene_variant BRCA-EU 14 24616455 24616455 single base substitution G C intron_variant BRCA-EU 14 24616455 24616455 single base substitution G C upstream_gene_variant BRCA-EU 14 24616539 24616539 single base substitution A G intron_variant BRCA-EU 14 24616539 24616539 single base substitution A G upstream_gene_variant BRCA-EU 14 24617987 24617987 single base substitution A G downstream_gene_variant BRCA-EU 14 24617987 24617987 single base substitution A G intron_variant BRCA-EU 14 24617987 24617987 single base substitution A G upstream_gene_variant BRCA-EU 14 24618148 24618148 single base substitution C A downstream_gene_variant BRCA-EU 14 24618148 24618148 single base substitution C A exon_variant BRCA-EU 14 24618148 24618148 single base substitution C A intron_variant BRCA-EU 14 24618148 24618148 single base substitution C A upstream_gene_variant BRCA-EU 14 24619054 24619054 single base substitution T A downstream_gene_variant BRCA-EU 14 24619054 24619054 single base substitution T A intron_variant BRCA-EU 14 24619054 24619054 single base substitution T A upstream_gene_variant BRCA-EU 14 24619795 24619795 single base substitution C G downstream_gene_variant BRCA-EU 14 24619795 24619795 single base substitution C G intron_variant BRCA-EU 14 24619795 24619795 single base substitution C G upstream_gene_variant BRCA-EU 14 24620315 24620315 single base substitution C A downstream_gene_variant BRCA-EU 14 24620315 24620315 single base substitution C A exon_variant BRCA-EU 14 24620315 24620315 single base substitution C A intron_variant BRCA-EU 14 24620315 24620315 single base substitution C A upstream_gene_variant BRCA-EU 14 24622861 24622861 single base substitution C T downstream_gene_variant BRCA-EU 14 24622861 24622861 single base substitution C T intron_variant BRCA-EU 14 24622861 24622861 single base substitution C T upstream_gene_variant BRCA-EU 14 24623032 24623032 single base substitution G C downstream_gene_variant BRCA-EU 14 24623032 24623032 single base substitution G C intron_variant BRCA-EU 14 24623032 24623032 single base substitution G C upstream_gene_variant BRCA-EU 14 24623040 24623040 single base substitution G A downstream_gene_variant BRCA-EU 14 24623040 24623040 single base substitution G A intron_variant BRCA-EU 14 24623040 24623040 single base substitution G A upstream_gene_variant BRCA-EU 14 24623390 24623390 single base substitution G C downstream_gene_variant BRCA-EU 14 24623390 24623390 single base substitution G C intron_variant BRCA-EU 14 24623390 24623390 single base substitution G C upstream_gene_variant BRCA-EU 14 24624586 24624586 single base substitution G A intron_variant BRCA-EU 14 24624586 24624586 single base substitution G A upstream_gene_variant BRCA-EU 14 24625727 24625727 single base substitution G A intron_variant BRCA-EU 14 24625727 24625727 single base substitution G A upstream_gene_variant BRCA-EU 14 24627305 24627305 single base substitution C G downstream_gene_variant BRCA-EU 14 24627305 24627305 single base substitution C G intron_variant BRCA-EU 14 24627305 24627305 single base substitution C G upstream_gene_variant BRCA-EU 14 24627839 24627839 single base substitution G A downstream_gene_variant BRCA-EU 14 24627839 24627839 single base substitution G A intron_variant BRCA-EU 14 24627839 24627839 single base substitution G A upstream_gene_variant BRCA-EU 14 24629706 24629706 single base substitution T A downstream_gene_variant BRCA-EU 14 24629706 24629706 single base substitution T A intron_variant BRCA-EU 14 24629787 24629787 single base substitution G C 3_prime_UTR_variant BRCA-EU 14 24629787 24629787 single base substitution G C downstream_gene_variant BRCA-EU 14 24629787 24629787 single base substitution G C exon_variant BRCA-EU 14 24630398 24630398 single base substitution C G downstream_gene_variant BRCA-EU 14 24630535 24630535 single base substitution G C downstream_gene_variant BRCA-EU 14 24630926 24630926 single base substitution C T downstream_gene_variant BRCA-EU 14 24631298 24631298 single base substitution G T downstream_gene_variant BRCA-EU 14 24631299 24631299 single base substitution A T downstream_gene_variant BRCA-EU 14 24632085 24632085 single base substitution C G downstream_gene_variant BRCA-EU 14 24632241 24632241 single base substitution C T downstream_gene_variant BRCA-EU 14 24632393 24632393 single base substitution A G downstream_gene_variant BRCA-EU 14 24634481 24634481 single base substitution G A downstream_gene_variant BRCA-FR 14 24622797 24622797 single base substitution T G downstream_gene_variant BRCA-FR 14 24622797 24622797 single base substitution T G intron_variant BRCA-FR 14 24622797 24622797 single base substitution T G upstream_gene_variant BRCA-FR 14 24622808 24622808 single base substitution A C downstream_gene_variant BRCA-FR 14 24622808 24622808 single base substitution A C intron_variant BRCA-FR 14 24622808 24622808 single base substitution A C upstream_gene_variant BRCA-FR 14 24622826 24622826 single base substitution A C downstream_gene_variant BRCA-FR 14 24622826 24622826 single base substitution A C intron_variant BRCA-FR 14 24622826 24622826 single base substitution A C upstream_gene_variant BRCA-FR 14 24630535 24630535 single base substitution G C downstream_gene_variant BRCA-KR 14 24620727 24620727 single base substitution G A downstream_gene_variant BRCA-KR 14 24620727 24620727 single base substitution G A exon_variant BRCA-KR 14 24620727 24620727 single base substitution G A intron_variant BRCA-KR 14 24620727 24620727 single base substitution G A missense_variant E435K 1303G>A BRCA-KR 14 24620727 24620727 single base substitution G A missense_variant E440K 1318G>A BRCA-KR 14 24620727 24620727 single base substitution G A missense_variant E591K 1771G>A BRCA-KR 14 24620727 24620727 single base substitution G A upstream_gene_variant BRCA-UK 14 24615875 24615875 single base substitution C T upstream_gene_variant BRCA-UK 14 24622705 24622705 single base substitution G A downstream_gene_variant BRCA-UK 14 24622705 24622705 single base substitution G A intron_variant BRCA-UK 14 24622705 24622705 single base substitution G A upstream_gene_variant BRCA-UK 14 24629734 24629734 single base substitution G C 3_prime_UTR_variant BRCA-UK 14 24629734 24629734 single base substitution G C downstream_gene_variant BRCA-UK 14 24629734 24629734 single base substitution G C exon_variant BRCA-UK 14 24629734 24629734 single base substitution G C synonymous_variant L1057L 3171G>C BRCA-UK 14 24629734 24629734 single base substitution G C synonymous_variant L149L 447G>C BRCA-UK 14 24629734 24629734 single base substitution G C synonymous_variant L901L 2703G>C BRCA-UK 14 24629734 24629734 single base substitution G C synonymous_variant L906L 2718G>C BRCA-UK 14 24629946 24629946 single base substitution G A downstream_gene_variant BRCA-US 14 24617078 24617078 single base substitution C T downstream_gene_variant BRCA-US 14 24617078 24617078 single base substitution C T exon_variant BRCA-US 14 24617078 24617078 single base substitution C T intron_variant BRCA-US 14 24617078 24617078 single base substitution C T synonymous_variant V57V 171C>T BRCA-US 14 24617078 24617078 single base substitution C T upstream_gene_variant BRCA-US 14 24617260 24617260 single base substitution C T 5_prime_UTR_variant BRCA-US 14 24617260 24617260 single base substitution C T downstream_gene_variant BRCA-US 14 24617260 24617260 single base substitution C T exon_variant BRCA-US 14 24617260 24617260 single base substitution C T intron_variant BRCA-US 14 24617260 24617260 single base substitution C T stop_gained Q90* 268C>T BRCA-US 14 24617260 24617260 single base substitution C T upstream_gene_variant BRCA-US 14 24619840 24619840 single base substitution C G downstream_gene_variant BRCA-US 14 24619840 24619840 single base substitution C G intron_variant BRCA-US 14 24619840 24619840 single base substitution C G missense_variant Q260E 778C>G BRCA-US 14 24619840 24619840 single base substitution C G missense_variant Q311E 931C>G BRCA-US 14 24619840 24619840 single base substitution C G missense_variant Q411E 1231C>G BRCA-US 14 24619840 24619840 single base substitution C G upstream_gene_variant BRCA-US 14 24620062 24620062 single base substitution C T downstream_gene_variant BRCA-US 14 24620062 24620062 single base substitution C T intron_variant BRCA-US 14 24620062 24620062 single base substitution C T missense_variant R334W 1000C>T BRCA-US 14 24620062 24620062 single base substitution C T missense_variant R385W 1153C>T BRCA-US 14 24620062 24620062 single base substitution C T missense_variant R485W 1453C>T BRCA-US 14 24620062 24620062 single base substitution C T upstream_gene_variant BRCA-US 14 24626762 24626762 single base substitution C T 3_prime_UTR_variant BRCA-US 14 24626762 24626762 single base substitution C T downstream_gene_variant BRCA-US 14 24626762 24626762 single base substitution C T exon_variant BRCA-US 14 24626762 24626762 single base substitution C T missense_variant A11V 32C>T BRCA-US 14 24626762 24626762 single base substitution C T missense_variant A725V 2174C>T BRCA-US 14 24626762 24626762 single base substitution C T missense_variant A730V 2189C>T BRCA-US 14 24626762 24626762 single base substitution C T missense_variant A881V 2642C>T BRCA-US 14 24626762 24626762 single base substitution C T upstream_gene_variant BRCA-US 14 24631447 24631447 single base substitution G A downstream_gene_variant BRCA-US 14 24631447 24631447 single base substitution G C downstream_gene_variant BRCA-US 14 24631474 24631474 single base substitution C A downstream_gene_variant BRCA-US 14 24633978 24633978 single base substitution C T downstream_gene_variant BTCA-JP 14 24614266 24614266 single base substitution C A upstream_gene_variant BTCA-JP 14 24615764 24615764 single base substitution C T upstream_gene_variant BTCA-JP 14 24617718 24617718 single base substitution A G downstream_gene_variant BTCA-JP 14 24617718 24617718 single base substitution A G intron_variant BTCA-JP 14 24617718 24617718 single base substitution A G upstream_gene_variant BTCA-JP 14 24619411 24619411 single base substitution A G 3_prime_UTR_variant BTCA-JP 14 24619411 24619411 single base substitution A G downstream_gene_variant BTCA-JP 14 24619411 24619411 single base substitution A G exon_variant BTCA-JP 14 24619411 24619411 single base substitution A G intron_variant BTCA-JP 14 24619411 24619411 single base substitution A G synonymous_variant A132A 396A>G BTCA-JP 14 24619411 24619411 single base substitution A G synonymous_variant A166A 498A>G BTCA-JP 14 24619411 24619411 single base substitution A G synonymous_variant A217A 651A>G BTCA-JP 14 24619411 24619411 single base substitution A G synonymous_variant A317A 951A>G BTCA-JP 14 24619411 24619411 single base substitution A G upstream_gene_variant BTCA-JP 14 24619494 24619494 insertion of <=200bp - T 3_prime_UTR_variant BTCA-JP 14 24619494 24619494 insertion of <=200bp - T downstream_gene_variant BTCA-JP 14 24619494 24619494 insertion of <=200bp - T frameshift_variant L194L? BTCA-JP 14 24619494 24619494 insertion of <=200bp - T frameshift_variant L245L? BTCA-JP 14 24619494 24619494 insertion of <=200bp - T frameshift_variant L345L? BTCA-JP 14 24619494 24619494 insertion of <=200bp - T intron_variant BTCA-JP 14 24619494 24619494 insertion of <=200bp - T upstream_gene_variant BTCA-JP 14 24619496 24619496 single base substitution G T 3_prime_UTR_variant BTCA-JP 14 24619496 24619496 single base substitution G T downstream_gene_variant BTCA-JP 14 24619496 24619496 single base substitution G T intron_variant BTCA-JP 14 24619496 24619496 single base substitution G T stop_gained E195* 583G>T BTCA-JP 14 24619496 24619496 single base substitution G T stop_gained E246* 736G>T BTCA-JP 14 24619496 24619496 single base substitution G T stop_gained E346* 1036G>T BTCA-JP 14 24619496 24619496 single base substitution G T upstream_gene_variant BTCA-JP 14 24620611 24620611 single base substitution G A downstream_gene_variant BTCA-JP 14 24620611 24620611 single base substitution G A intron_variant BTCA-JP 14 24620611 24620611 single base substitution G A upstream_gene_variant BTCA-JP 14 24624669 24624669 single base substitution A T 3_prime_UTR_variant BTCA-JP 14 24624669 24624669 single base substitution A T exon_variant BTCA-JP 14 24624669 24624669 single base substitution A T missense_variant K628M 1883A>T BTCA-JP 14 24624669 24624669 single base substitution A T missense_variant K633M 1898A>T BTCA-JP 14 24624669 24624669 single base substitution A T missense_variant K74M 221A>T BTCA-JP 14 24624669 24624669 single base substitution A T missense_variant K784M 2351A>T BTCA-JP 14 24624669 24624669 single base substitution A T upstream_gene_variant BTCA-JP 14 24626755 24626755 single base substitution G A 3_prime_UTR_variant BTCA-JP 14 24626755 24626755 single base substitution G A downstream_gene_variant BTCA-JP 14 24626755 24626755 single base substitution G A exon_variant BTCA-JP 14 24626755 24626755 single base substitution G A missense_variant A723T 2167G>A BTCA-JP 14 24626755 24626755 single base substitution G A missense_variant A728T 2182G>A BTCA-JP 14 24626755 24626755 single base substitution G A missense_variant A879T 2635G>A BTCA-JP 14 24626755 24626755 single base substitution G A missense_variant A9T 25G>A BTCA-JP 14 24626755 24626755 single base substitution G A upstream_gene_variant BTCA-JP 14 24629710 24629710 single base substitution C A downstream_gene_variant BTCA-JP 14 24629710 24629710 single base substitution C A intron_variant BTCA-JP 14 24632587 24632587 single base substitution G A downstream_gene_variant BTCA-JP 14 24632692 24632692 single base substitution C G downstream_gene_variant CESC-US 14 24619469 24619469 single base substitution G A 3_prime_UTR_variant CESC-US 14 24619469 24619469 single base substitution G A downstream_gene_variant CESC-US 14 24619469 24619469 single base substitution G A intron_variant CESC-US 14 24619469 24619469 single base substitution G A missense_variant E186K 556G>A CESC-US 14 24619469 24619469 single base substitution G A missense_variant E237K 709G>A CESC-US 14 24619469 24619469 single base substitution G A missense_variant E337K 1009G>A CESC-US 14 24619469 24619469 single base substitution G A upstream_gene_variant CESC-US 14 24626844 24626844 single base substitution G C 3_prime_UTR_variant CESC-US 14 24626844 24626844 single base substitution G C downstream_gene_variant CESC-US 14 24626844 24626844 single base substitution G C exon_variant CESC-US 14 24626844 24626844 single base substitution G C missense_variant K38N 114G>C CESC-US 14 24626844 24626844 single base substitution G C missense_variant K752N 2256G>C CESC-US 14 24626844 24626844 single base substitution G C missense_variant K757N 2271G>C CESC-US 14 24626844 24626844 single base substitution G C missense_variant K908N 2724G>C CESC-US 14 24626844 24626844 single base substitution G C upstream_gene_variant CESC-US 14 24632271 24632271 single base substitution G C downstream_gene_variant CLLE-ES 14 24611247 24611247 single base substitution G A upstream_gene_variant COAD-US 14 24617532 24617532 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant COAD-US 14 24617532 24617532 single base substitution C T downstream_gene_variant COAD-US 14 24617532 24617532 single base substitution C T exon_variant COAD-US 14 24617532 24617532 single base substitution C T intron_variant COAD-US 14 24617532 24617532 single base substitution C T synonymous_variant P135P 405C>T COAD-US 14 24617532 24617532 single base substitution C T synonymous_variant P35P 105C>T COAD-US 14 24617532 24617532 single base substitution C T upstream_gene_variant COAD-US 14 24618074 24618074 single base substitution C A downstream_gene_variant COAD-US 14 24618074 24618074 single base substitution C A exon_variant COAD-US 14 24618074 24618074 single base substitution C A intron_variant COAD-US 14 24618074 24618074 single base substitution C A missense_variant P107H 320C>A COAD-US 14 24618074 24618074 single base substitution C A missense_variant P207H 620C>A COAD-US 14 24618074 24618074 single base substitution C A missense_variant P22H 65C>A COAD-US 14 24618074 24618074 single base substitution C A missense_variant P56H 167C>A COAD-US 14 24618074 24618074 single base substitution C A upstream_gene_variant COAD-US 14 24619809 24619809 deletion of <=200bp G - downstream_gene_variant COAD-US 14 24619809 24619809 deletion of <=200bp G - frameshift_variant Q249 COAD-US 14 24619809 24619809 deletion of <=200bp G - frameshift_variant Q300 COAD-US 14 24619809 24619809 deletion of <=200bp G - frameshift_variant Q400 COAD-US 14 24619809 24619809 deletion of <=200bp G - intron_variant COAD-US 14 24619809 24619809 deletion of <=200bp G - upstream_gene_variant COAD-US 14 24619910 24619910 single base substitution G A downstream_gene_variant COAD-US 14 24619910 24619910 single base substitution G A intron_variant COAD-US 14 24619910 24619910 single base substitution G A missense_variant R283Q 848G>A COAD-US 14 24619910 24619910 single base substitution G A missense_variant R334Q 1001G>A COAD-US 14 24619910 24619910 single base substitution G A missense_variant R434Q 1301G>A COAD-US 14 24619910 24619910 single base substitution G A upstream_gene_variant COAD-US 14 24619975 24619975 deletion of <=200bp C - downstream_gene_variant COAD-US 14 24619975 24619975 deletion of <=200bp C - frameshift_variant P305 COAD-US 14 24619975 24619975 deletion of <=200bp C - frameshift_variant P356 COAD-US 14 24619975 24619975 deletion of <=200bp C - frameshift_variant P456 COAD-US 14 24619975 24619975 deletion of <=200bp C - intron_variant COAD-US 14 24619975 24619975 deletion of <=200bp C - upstream_gene_variant COAD-US 14 24626515 24626515 single base substitution G A exon_variant COAD-US 14 24626515 24626515 single base substitution G A intron_variant COAD-US 14 24626515 24626515 single base substitution G A missense_variant R127Q 380G>A COAD-US 14 24626515 24626515 single base substitution G A missense_variant R681Q 2042G>A COAD-US 14 24626515 24626515 single base substitution G A missense_variant R686Q 2057G>A COAD-US 14 24626515 24626515 single base substitution G A missense_variant R837Q 2510G>A COAD-US 14 24626515 24626515 single base substitution G A upstream_gene_variant COAD-US 14 24626521 24626521 single base substitution G A exon_variant COAD-US 14 24626521 24626521 single base substitution G A missense_variant R129Q 386G>A COAD-US 14 24626521 24626521 single base substitution G A missense_variant R683Q 2048G>A COAD-US 14 24626521 24626521 single base substitution G A missense_variant R688Q 2063G>A COAD-US 14 24626521 24626521 single base substitution G A missense_variant R839Q 2516G>A COAD-US 14 24626521 24626521 single base substitution G A splice_region_variant COAD-US 14 24626521 24626521 single base substitution G A upstream_gene_variant COAD-US 14 24626595 24626595 single base substitution C T 3_prime_UTR_variant COAD-US 14 24626595 24626595 single base substitution C T downstream_gene_variant COAD-US 14 24626595 24626595 single base substitution C T exon_variant COAD-US 14 24626595 24626595 single base substitution C T missense_variant L708F 2122C>T COAD-US 14 24626595 24626595 single base substitution C T missense_variant L713F 2137C>T COAD-US 14 24626595 24626595 single base substitution C T missense_variant L864F 2590C>T COAD-US 14 24626595 24626595 single base substitution C T upstream_gene_variant COAD-US 14 24626802 24626802 single base substitution C T 3_prime_UTR_variant COAD-US 14 24626802 24626802 single base substitution C T downstream_gene_variant COAD-US 14 24626802 24626802 single base substitution C T exon_variant COAD-US 14 24626802 24626802 single base substitution C T synonymous_variant R24R 72C>T COAD-US 14 24626802 24626802 single base substitution C T synonymous_variant R738R 2214C>T COAD-US 14 24626802 24626802 single base substitution C T synonymous_variant R743R 2229C>T COAD-US 14 24626802 24626802 single base substitution C T synonymous_variant R894R 2682C>T COAD-US 14 24626802 24626802 single base substitution C T upstream_gene_variant COAD-US 14 24632181 24632181 single base substitution G A downstream_gene_variant COAD-US 14 24633131 24633131 insertion of <=200bp - AGC downstream_gene_variant COAD-US 14 24633132 24633137 deletion of <=200bp AGCAGC - downstream_gene_variant COCA-CN 14 24612887 24612887 single base substitution T C upstream_gene_variant COCA-CN 14 24614696 24614696 single base substitution G T upstream_gene_variant COCA-CN 14 24631369 24631369 single base substitution G A downstream_gene_variant COCA-CN 14 24632209 24632209 single base substitution G T downstream_gene_variant COCA-CN 14 24633194 24633194 single base substitution C T downstream_gene_variant EOPC-DE 14 24615528 24615528 single base substitution A C upstream_gene_variant EOPC-DE 14 24622068 24622068 single base substitution A C downstream_gene_variant EOPC-DE 14 24622068 24622068 single base substitution A C intron_variant EOPC-DE 14 24622068 24622068 single base substitution A C upstream_gene_variant ESAD-UK 14 24612182 24612182 single base substitution C G upstream_gene_variant ESAD-UK 14 24612196 24612196 single base substitution T A upstream_gene_variant ESAD-UK 14 24612759 24612759 single base substitution C A upstream_gene_variant ESAD-UK 14 24614056 24614056 single base substitution G A upstream_gene_variant ESAD-UK 14 24615335 24615335 single base substitution T A upstream_gene_variant ESAD-UK 14 24618478 24618478 insertion of <=200bp - T downstream_gene_variant ESAD-UK 14 24618478 24618478 insertion of <=200bp - T intron_variant ESAD-UK 14 24618478 24618478 insertion of <=200bp - T upstream_gene_variant ESAD-UK 14 24624219 24624219 single base substitution C T 5_prime_UTR_variant ESAD-UK 14 24624219 24624219 single base substitution C T downstream_gene_variant ESAD-UK 14 24624219 24624219 single base substitution C T intron_variant ESAD-UK 14 24624219 24624219 single base substitution C T upstream_gene_variant ESAD-UK 14 24625765 24625765 single base substitution G A intron_variant ESAD-UK 14 24625765 24625765 single base substitution G A upstream_gene_variant ESAD-UK 14 24626080 24626080 single base substitution C T intron_variant ESAD-UK 14 24626080 24626080 single base substitution C T upstream_gene_variant ESAD-UK 14 24626932 24626932 single base substitution G A downstream_gene_variant ESAD-UK 14 24626932 24626932 single base substitution G A exon_variant ESAD-UK 14 24626932 24626932 single base substitution G A intron_variant ESAD-UK 14 24626932 24626932 single base substitution G A upstream_gene_variant ESCA-CN 14 24617581 24617581 single base substitution G A 5_prime_UTR_variant ESCA-CN 14 24617581 24617581 single base substitution G A downstream_gene_variant ESCA-CN 14 24617581 24617581 single base substitution G A exon_variant ESCA-CN 14 24617581 24617581 single base substitution G A intron_variant ESCA-CN 14 24617581 24617581 single base substitution G A missense_variant E152K 454G>A ESCA-CN 14 24617581 24617581 single base substitution G A missense_variant E52K 154G>A ESCA-CN 14 24617581 24617581 single base substitution G A upstream_gene_variant ESCA-CN 14 24618042 24618042 single base substitution G A downstream_gene_variant ESCA-CN 14 24618042 24618042 single base substitution G A exon_variant ESCA-CN 14 24618042 24618042 single base substitution G A intron_variant ESCA-CN 14 24618042 24618042 single base substitution G A synonymous_variant L11L 33G>A ESCA-CN 14 24618042 24618042 single base substitution G A synonymous_variant L196L 588G>A ESCA-CN 14 24618042 24618042 single base substitution G A synonymous_variant L45L 135G>A ESCA-CN 14 24618042 24618042 single base substitution G A synonymous_variant L96L 288G>A ESCA-CN 14 24618042 24618042 single base substitution G A upstream_gene_variant ESCA-CN 14 24619467 24619467 single base substitution C G 3_prime_UTR_variant ESCA-CN 14 24619467 24619467 single base substitution C G downstream_gene_variant ESCA-CN 14 24619467 24619467 single base substitution C G intron_variant ESCA-CN 14 24619467 24619467 single base substitution C G missense_variant T185S 554C>G ESCA-CN 14 24619467 24619467 single base substitution C G missense_variant T236S 707C>G ESCA-CN 14 24619467 24619467 single base substitution C G missense_variant T336S 1007C>G ESCA-CN 14 24619467 24619467 single base substitution C G upstream_gene_variant ESCA-CN 14 24632182 24632182 single base substitution C A downstream_gene_variant GACA-CN 14 24618052 24618052 single base substitution G T downstream_gene_variant GACA-CN 14 24618052 24618052 single base substitution G T exon_variant GACA-CN 14 24618052 24618052 single base substitution G T intron_variant GACA-CN 14 24618052 24618052 single base substitution G T missense_variant A100S 298G>T GACA-CN 14 24618052 24618052 single base substitution G T missense_variant A15S 43G>T GACA-CN 14 24618052 24618052 single base substitution G T missense_variant A200S 598G>T GACA-CN 14 24618052 24618052 single base substitution G T missense_variant A49S 145G>T GACA-CN 14 24618052 24618052 single base substitution G T upstream_gene_variant GBM-US 14 24620756 24620756 single base substitution G C downstream_gene_variant GBM-US 14 24620756 24620756 single base substitution G C exon_variant GBM-US 14 24620756 24620756 single base substitution G C intron_variant GBM-US 14 24620756 24620756 single base substitution G C missense_variant Q444H 1332G>C GBM-US 14 24620756 24620756 single base substitution G C missense_variant Q449H 1347G>C GBM-US 14 24620756 24620756 single base substitution G C missense_variant Q600H 1800G>C GBM-US 14 24620756 24620756 single base substitution G C upstream_gene_variant GBM-US 14 24627141 24627141 single base substitution C A 3_prime_UTR_variant GBM-US 14 24627141 24627141 single base substitution C A downstream_gene_variant GBM-US 14 24627141 24627141 single base substitution C A exon_variant GBM-US 14 24627141 24627141 single base substitution C A intron_variant GBM-US 14 24627141 24627141 single base substitution C A missense_variant S765Y 2294C>A GBM-US 14 24627141 24627141 single base substitution C A missense_variant S770Y 2309C>A GBM-US 14 24627141 24627141 single base substitution C A missense_variant S921Y 2762C>A GBM-US 14 24627141 24627141 single base substitution C A upstream_gene_variant KIRC-US 14 24617487 24617487 single base substitution A G 5_prime_UTR_variant KIRC-US 14 24617487 24617487 single base substitution A G downstream_gene_variant KIRC-US 14 24617487 24617487 single base substitution A G exon_variant KIRC-US 14 24617487 24617487 single base substitution A G intron_variant KIRC-US 14 24617487 24617487 single base substitution A G synonymous_variant R120R 360A>G KIRC-US 14 24617487 24617487 single base substitution A G synonymous_variant R20R 60A>G KIRC-US 14 24617487 24617487 single base substitution A G upstream_gene_variant KIRC-US 14 24632648 24632648 single base substitution G A downstream_gene_variant KIRC-US 14 24633841 24633841 single base substitution C G downstream_gene_variant KIRP-US 14 24612672 24612672 single base substitution G T upstream_gene_variant KIRP-US 14 24617213 24617213 single base substitution C G 5_prime_UTR_variant KIRP-US 14 24617213 24617213 single base substitution C G downstream_gene_variant KIRP-US 14 24617213 24617213 single base substitution C G exon_variant KIRP-US 14 24617213 24617213 single base substitution C G missense_variant T74R 221C>G KIRP-US 14 24617213 24617213 single base substitution C G splice_region_variant KIRP-US 14 24617213 24617213 single base substitution C G upstream_gene_variant KIRP-US 14 24626550 24626550 single base substitution C T 3_prime_UTR_variant KIRP-US 14 24626550 24626550 single base substitution C T downstream_gene_variant KIRP-US 14 24626550 24626550 single base substitution C T exon_variant KIRP-US 14 24626550 24626550 single base substitution C T missense_variant R693C 2077C>T KIRP-US 14 24626550 24626550 single base substitution C T missense_variant R698C 2092C>T KIRP-US 14 24626550 24626550 single base substitution C T missense_variant R849C 2545C>T KIRP-US 14 24626550 24626550 single base substitution C T upstream_gene_variant LGG-US 14 24619440 24619440 single base substitution G T 3_prime_UTR_variant LGG-US 14 24619440 24619440 single base substitution G T downstream_gene_variant LGG-US 14 24619440 24619440 single base substitution G T exon_variant LGG-US 14 24619440 24619440 single base substitution G T intron_variant LGG-US 14 24619440 24619440 single base substitution G T missense_variant R142L 425G>T LGG-US 14 24619440 24619440 single base substitution G T missense_variant R176L 527G>T LGG-US 14 24619440 24619440 single base substitution G T missense_variant R227L 680G>T LGG-US 14 24619440 24619440 single base substitution G T missense_variant R327L 980G>T LGG-US 14 24619440 24619440 single base substitution G T upstream_gene_variant LGG-US 14 24619441 24619441 single base substitution A T 3_prime_UTR_variant LGG-US 14 24619441 24619441 single base substitution A T downstream_gene_variant LGG-US 14 24619441 24619441 single base substitution A T exon_variant LGG-US 14 24619441 24619441 single base substitution A T intron_variant LGG-US 14 24619441 24619441 single base substitution A T synonymous_variant R142R 426A>T LGG-US 14 24619441 24619441 single base substitution A T synonymous_variant R176R 528A>T LGG-US 14 24619441 24619441 single base substitution A T synonymous_variant R227R 681A>T LGG-US 14 24619441 24619441 single base substitution A T synonymous_variant R327R 981A>T LGG-US 14 24619441 24619441 single base substitution A T upstream_gene_variant LGG-US 14 24629769 24629769 single base substitution G A 3_prime_UTR_variant LGG-US 14 24629769 24629769 single base substitution G A downstream_gene_variant LGG-US 14 24629769 24629769 single base substitution G A exon_variant LGG-US 14 24629769 24629769 single base substitution G A missense_variant R1069H 3206G>A LGG-US 14 24629769 24629769 single base substitution G A missense_variant R161H 482G>A LGG-US 14 24629769 24629769 single base substitution G A missense_variant R913H 2738G>A LGG-US 14 24629769 24629769 single base substitution G A missense_variant R918H 2753G>A LICA-CN 14 24615763 24615763 single base substitution T A upstream_gene_variant LICA-CN 14 24619997 24619997 single base substitution G C downstream_gene_variant LICA-CN 14 24619997 24619997 single base substitution G C intron_variant LICA-CN 14 24619997 24619997 single base substitution G C missense_variant R312P 935G>C LICA-CN 14 24619997 24619997 single base substitution G C missense_variant R363P 1088G>C LICA-CN 14 24619997 24619997 single base substitution G C missense_variant R463P 1388G>C LICA-CN 14 24619997 24619997 single base substitution G C upstream_gene_variant LICA-CN 14 24624478 24624478 single base substitution G T 3_prime_UTR_variant LICA-CN 14 24624478 24624478 single base substitution G T downstream_gene_variant LICA-CN 14 24624478 24624478 single base substitution G T exon_variant LICA-CN 14 24624478 24624478 single base substitution G T missense_variant G38V 113G>T LICA-CN 14 24624478 24624478 single base substitution G T missense_variant G592V 1775G>T LICA-CN 14 24624478 24624478 single base substitution G T missense_variant G597V 1790G>T LICA-CN 14 24624478 24624478 single base substitution G T missense_variant G748V 2243G>T LICA-CN 14 24624478 24624478 single base substitution G T upstream_gene_variant LICA-CN 14 24631351 24631351 single base substitution A T downstream_gene_variant LICA-FR 14 24612837 24612837 single base substitution T C upstream_gene_variant LIHC-US 14 24615416 24615416 single base substitution C A upstream_gene_variant LIHC-US 14 24618693 24618693 single base substitution G T downstream_gene_variant LIHC-US 14 24618693 24618693 single base substitution G T exon_variant LIHC-US 14 24618693 24618693 single base substitution G T intron_variant LIHC-US 14 24618693 24618693 single base substitution G T missense_variant C137F 410G>T LIHC-US 14 24618693 24618693 single base substitution G T missense_variant C237F 710G>T LIHC-US 14 24618693 24618693 single base substitution G T missense_variant C52F 155G>T LIHC-US 14 24618693 24618693 single base substitution G T missense_variant C86F 257G>T LIHC-US 14 24618693 24618693 single base substitution G T upstream_gene_variant LIHC-US 14 24620086 24620086 single base substitution A G downstream_gene_variant LIHC-US 14 24620086 24620086 single base substitution A G intron_variant LIHC-US 14 24620086 24620086 single base substitution A G missense_variant S342G 1024A>G LIHC-US 14 24620086 24620086 single base substitution A G missense_variant S393G 1177A>G LIHC-US 14 24620086 24620086 single base substitution A G missense_variant S493G 1477A>G LIHC-US 14 24620086 24620086 single base substitution A G upstream_gene_variant LINC-JP 14 24613488 24613491 deletion of <=200bp AAAG - upstream_gene_variant LINC-JP 14 24616785 24616785 single base substitution G A 5_prime_UTR_variant LINC-JP 14 24616785 24616785 single base substitution G A exon_variant LINC-JP 14 24616785 24616785 single base substitution G A intron_variant LINC-JP 14 24616785 24616785 single base substitution G A upstream_gene_variant LINC-JP 14 24617996 24617996 single base substitution C G downstream_gene_variant LINC-JP 14 24617996 24617996 single base substitution C G intron_variant LINC-JP 14 24617996 24617996 single base substitution C G upstream_gene_variant LINC-JP 14 24618629 24618629 single base substitution C T downstream_gene_variant LINC-JP 14 24618629 24618629 single base substitution C T exon_variant LINC-JP 14 24618629 24618629 single base substitution C T intron_variant LINC-JP 14 24618629 24618629 single base substitution C T missense_variant P116S 346C>T LINC-JP 14 24618629 24618629 single base substitution C T missense_variant P216S 646C>T LINC-JP 14 24618629 24618629 single base substitution C T missense_variant P31S 91C>T LINC-JP 14 24618629 24618629 single base substitution C T missense_variant P65S 193C>T LINC-JP 14 24618629 24618629 single base substitution C T upstream_gene_variant LINC-JP 14 24619539 24619539 deletion of <=200bp C - downstream_gene_variant LINC-JP 14 24619539 24619539 deletion of <=200bp C - frameshift_variant T209 LINC-JP 14 24619539 24619539 deletion of <=200bp C - frameshift_variant T260 LINC-JP 14 24619539 24619539 deletion of <=200bp C - frameshift_variant T360 LINC-JP 14 24619539 24619539 deletion of <=200bp C - intron_variant LINC-JP 14 24619539 24619539 deletion of <=200bp C - upstream_gene_variant LINC-JP 14 24620552 24620552 single base substitution A G downstream_gene_variant LINC-JP 14 24620552 24620552 single base substitution A G exon_variant LINC-JP 14 24620552 24620552 single base substitution A G intron_variant LINC-JP 14 24620552 24620552 single base substitution A G synonymous_variant E411E 1233A>G LINC-JP 14 24620552 24620552 single base substitution A G synonymous_variant E416E 1248A>G LINC-JP 14 24620552 24620552 single base substitution A G synonymous_variant E567E 1701A>G LINC-JP 14 24620552 24620552 single base substitution A G upstream_gene_variant LINC-JP 14 24625761 24625761 single base substitution G A intron_variant LINC-JP 14 24625761 24625761 single base substitution G A upstream_gene_variant LINC-JP 14 24628809 24628809 single base substitution A C downstream_gene_variant LINC-JP 14 24628809 24628809 single base substitution A C intron_variant LINC-JP 14 24628809 24628809 single base substitution A C upstream_gene_variant LINC-JP 14 24629406 24629406 single base substitution A G downstream_gene_variant LINC-JP 14 24629406 24629406 single base substitution A G exon_variant LINC-JP 14 24629406 24629406 single base substitution A G intron_variant LINC-JP 14 24631330 24631330 single base substitution A G downstream_gene_variant LINC-JP 14 24633747 24633747 single base substitution G A downstream_gene_variant LIRI-JP 14 24611730 24611730 single base substitution G A upstream_gene_variant LIRI-JP 14 24615303 24615303 single base substitution G C upstream_gene_variant LIRI-JP 14 24615799 24615799 single base substitution A C upstream_gene_variant LIRI-JP 14 24618746 24618746 single base substitution C T 3_prime_UTR_variant LIRI-JP 14 24618746 24618746 single base substitution C T downstream_gene_variant LIRI-JP 14 24618746 24618746 single base substitution C T exon_variant LIRI-JP 14 24618746 24618746 single base substitution C T intron_variant LIRI-JP 14 24618746 24618746 single base substitution C T missense_variant R104C 310C>T LIRI-JP 14 24618746 24618746 single base substitution C T missense_variant R155C 463C>T LIRI-JP 14 24618746 24618746 single base substitution C T missense_variant R255C 763C>T LIRI-JP 14 24618746 24618746 single base substitution C T missense_variant R70C 208C>T LIRI-JP 14 24618746 24618746 single base substitution C T upstream_gene_variant LIRI-JP 14 24619607 24619607 single base substitution A G downstream_gene_variant LIRI-JP 14 24619607 24619607 single base substitution A G intron_variant LIRI-JP 14 24619607 24619607 single base substitution A G missense_variant S232G 694A>G LIRI-JP 14 24619607 24619607 single base substitution A G missense_variant S283G 847A>G LIRI-JP 14 24619607 24619607 single base substitution A G missense_variant S383G 1147A>G LIRI-JP 14 24619607 24619607 single base substitution A G upstream_gene_variant LIRI-JP 14 24621639 24621639 single base substitution T C downstream_gene_variant LIRI-JP 14 24621639 24621639 single base substitution T C intron_variant LIRI-JP 14 24621639 24621639 single base substitution T C upstream_gene_variant LIRI-JP 14 24625378 24625378 single base substitution A T intron_variant LIRI-JP 14 24625378 24625378 single base substitution A T upstream_gene_variant LIRI-JP 14 24625777 24625777 single base substitution T C intron_variant LIRI-JP 14 24625777 24625777 single base substitution T C upstream_gene_variant LIRI-JP 14 24627158 24627158 single base substitution C T 3_prime_UTR_variant LIRI-JP 14 24627158 24627158 single base substitution C T downstream_gene_variant LIRI-JP 14 24627158 24627158 single base substitution C T exon_variant LIRI-JP 14 24627158 24627158 single base substitution C T intron_variant LIRI-JP 14 24627158 24627158 single base substitution C T missense_variant P771S 2311C>T LIRI-JP 14 24627158 24627158 single base substitution C T missense_variant P776S 2326C>T LIRI-JP 14 24627158 24627158 single base substitution C T missense_variant P927S 2779C>T LIRI-JP 14 24627158 24627158 single base substitution C T upstream_gene_variant LIRI-JP 14 24629669 24629669 single base substitution G A downstream_gene_variant LIRI-JP 14 24629669 24629669 single base substitution G A intron_variant LIRI-JP 14 24630515 24630522 deletion of <=200bp CTGAGCCC - downstream_gene_variant LIRI-JP 14 24631592 24631592 single base substitution A G downstream_gene_variant LIRI-JP 14 24632665 24632665 single base substitution C G downstream_gene_variant LIRI-JP 14 24633095 24633095 single base substitution G T downstream_gene_variant LIRI-JP 14 24633405 24633405 single base substitution A G downstream_gene_variant LUSC-KR 14 24612757 24612757 single base substitution C T upstream_gene_variant LUSC-KR 14 24615134 24615134 single base substitution G T upstream_gene_variant LUSC-KR 14 24617104 24617104 single base substitution G T downstream_gene_variant LUSC-KR 14 24617104 24617104 single base substitution G T intron_variant LUSC-KR 14 24617104 24617104 single base substitution G T splice_region_variant LUSC-KR 14 24617104 24617104 single base substitution G T upstream_gene_variant LUSC-KR 14 24618158 24618158 single base substitution C T downstream_gene_variant LUSC-KR 14 24618158 24618158 single base substitution C T exon_variant LUSC-KR 14 24618158 24618158 single base substitution C T intron_variant LUSC-KR 14 24618158 24618158 single base substitution C T upstream_gene_variant LUSC-KR 14 24620125 24620125 single base substitution G T downstream_gene_variant LUSC-KR 14 24620125 24620125 single base substitution G T intron_variant LUSC-KR 14 24620125 24620125 single base substitution G T upstream_gene_variant LUSC-KR 14 24621635 24621635 single base substitution C T downstream_gene_variant LUSC-KR 14 24621635 24621635 single base substitution C T intron_variant LUSC-KR 14 24621635 24621635 single base substitution C T upstream_gene_variant LUSC-KR 14 24622302 24622302 single base substitution A G downstream_gene_variant LUSC-KR 14 24622302 24622302 single base substitution A G intron_variant LUSC-KR 14 24622302 24622302 single base substitution A G upstream_gene_variant LUSC-KR 14 24627394 24627394 single base substitution G C 3_prime_UTR_variant LUSC-KR 14 24627394 24627394 single base substitution G C downstream_gene_variant LUSC-KR 14 24627394 24627394 single base substitution G C exon_variant LUSC-KR 14 24627394 24627394 single base substitution G C missense_variant R54P 161G>C LUSC-KR 14 24627394 24627394 single base substitution G C missense_variant R806P 2417G>C LUSC-KR 14 24627394 24627394 single base substitution G C missense_variant R811P 2432G>C LUSC-KR 14 24627394 24627394 single base substitution G C missense_variant R962P 2885G>C LUSC-KR 14 24627394 24627394 single base substitution G C upstream_gene_variant LUSC-KR 14 24627754 24627754 single base substitution G C downstream_gene_variant LUSC-KR 14 24627754 24627754 single base substitution G C intron_variant LUSC-KR 14 24627754 24627754 single base substitution G C upstream_gene_variant LUSC-KR 14 24630698 24630698 single base substitution G T downstream_gene_variant LUSC-KR 14 24632536 24632536 single base substitution C T downstream_gene_variant LUSC-US 14 24612869 24612869 single base substitution C T upstream_gene_variant LUSC-US 14 24614467 24614467 single base substitution G C upstream_gene_variant LUSC-US 14 24618034 24618034 single base substitution C G downstream_gene_variant LUSC-US 14 24618034 24618034 single base substitution C G exon_variant LUSC-US 14 24618034 24618034 single base substitution C G intron_variant LUSC-US 14 24618034 24618034 single base substitution C G missense_variant P194A 580C>G LUSC-US 14 24618034 24618034 single base substitution C G missense_variant P43A 127C>G LUSC-US 14 24618034 24618034 single base substitution C G missense_variant P94A 280C>G LUSC-US 14 24618034 24618034 single base substitution C G missense_variant P9A 25C>G LUSC-US 14 24618034 24618034 single base substitution C G upstream_gene_variant LUSC-US 14 24619858 24619858 single base substitution C A downstream_gene_variant LUSC-US 14 24619858 24619858 single base substitution C A intron_variant LUSC-US 14 24619858 24619858 single base substitution C A missense_variant H266N 796C>A LUSC-US 14 24619858 24619858 single base substitution C A missense_variant H317N 949C>A LUSC-US 14 24619858 24619858 single base substitution C A missense_variant H417N 1249C>A LUSC-US 14 24619858 24619858 single base substitution C A upstream_gene_variant LUSC-US 14 24624472 24624472 single base substitution C T 3_prime_UTR_variant LUSC-US 14 24624472 24624472 single base substitution C T downstream_gene_variant LUSC-US 14 24624472 24624472 single base substitution C T exon_variant LUSC-US 14 24624472 24624472 single base substitution C T missense_variant A36V 107C>T LUSC-US 14 24624472 24624472 single base substitution C T missense_variant A590V 1769C>T LUSC-US 14 24624472 24624472 single base substitution C T missense_variant A595V 1784C>T LUSC-US 14 24624472 24624472 single base substitution C T missense_variant A746V 2237C>T LUSC-US 14 24624472 24624472 single base substitution C T upstream_gene_variant LUSC-US 14 24626559 24626559 single base substitution G T 3_prime_UTR_variant LUSC-US 14 24626559 24626559 single base substitution G T downstream_gene_variant LUSC-US 14 24626559 24626559 single base substitution G T exon_variant LUSC-US 14 24626559 24626559 single base substitution G T missense_variant D696Y 2086G>T LUSC-US 14 24626559 24626559 single base substitution G T missense_variant D701Y 2101G>T LUSC-US 14 24626559 24626559 single base substitution G T missense_variant D852Y 2554G>T LUSC-US 14 24626559 24626559 single base substitution G T upstream_gene_variant LUSC-US 14 24626791 24626791 single base substitution A T 3_prime_UTR_variant LUSC-US 14 24626791 24626791 single base substitution A T downstream_gene_variant LUSC-US 14 24626791 24626791 single base substitution A T exon_variant LUSC-US 14 24626791 24626791 single base substitution A T missense_variant T21S 61A>T LUSC-US 14 24626791 24626791 single base substitution A T missense_variant T735S 2203A>T LUSC-US 14 24626791 24626791 single base substitution A T missense_variant T740S 2218A>T LUSC-US 14 24626791 24626791 single base substitution A T missense_variant T891S 2671A>T LUSC-US 14 24626791 24626791 single base substitution A T upstream_gene_variant LUSC-US 14 24633866 24633866 single base substitution G A downstream_gene_variant MALY-DE 14 24613369 24613369 single base substitution G A upstream_gene_variant MALY-DE 14 24616804 24616804 single base substitution G T 5_prime_UTR_variant MALY-DE 14 24616804 24616804 single base substitution G T exon_variant MALY-DE 14 24616804 24616804 single base substitution G T intron_variant MALY-DE 14 24616804 24616804 single base substitution G T upstream_gene_variant MALY-DE 14 24617463 24617463 single base substitution G A downstream_gene_variant MALY-DE 14 24617463 24617463 single base substitution G A intron_variant MALY-DE 14 24617463 24617463 single base substitution G A splice_region_variant MALY-DE 14 24617463 24617463 single base substitution G A upstream_gene_variant MALY-DE 14 24618675 24618675 single base substitution C T downstream_gene_variant MALY-DE 14 24618675 24618675 single base substitution C T exon_variant MALY-DE 14 24618675 24618675 single base substitution C T intron_variant MALY-DE 14 24618675 24618675 single base substitution C T missense_variant S131F 392C>T MALY-DE 14 24618675 24618675 single base substitution C T missense_variant S231F 692C>T MALY-DE 14 24618675 24618675 single base substitution C T missense_variant S46F 137C>T MALY-DE 14 24618675 24618675 single base substitution C T missense_variant S80F 239C>T MALY-DE 14 24618675 24618675 single base substitution C T upstream_gene_variant MELA-AU 14 24611100 24611100 single base substitution G A upstream_gene_variant MELA-AU 14 24611532 24611532 single base substitution C T upstream_gene_variant MELA-AU 14 24611862 24611862 single base substitution G A upstream_gene_variant MELA-AU 14 24612097 24612097 single base substitution G A upstream_gene_variant MELA-AU 14 24612377 24612377 single base substitution G A upstream_gene_variant MELA-AU 14 24612795 24612795 single base substitution T A upstream_gene_variant MELA-AU 14 24613142 24613142 single base substitution C G upstream_gene_variant MELA-AU 14 24613200 24613200 single base substitution G A upstream_gene_variant MELA-AU 14 24613329 24613329 single base substitution G A upstream_gene_variant MELA-AU 14 24613341 24613341 single base substitution C T upstream_gene_variant MELA-AU 14 24613384 24613384 single base substitution C T upstream_gene_variant MELA-AU 14 24613404 24613404 single base substitution G A upstream_gene_variant MELA-AU 14 24613646 24613646 single base substitution T C upstream_gene_variant MELA-AU 14 24613840 24613840 single base substitution T C upstream_gene_variant MELA-AU 14 24614232 24614232 single base substitution C T upstream_gene_variant MELA-AU 14 24614499 24614499 single base substitution G C upstream_gene_variant MELA-AU 14 24614633 24614634 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 14 24614642 24614642 single base substitution G A upstream_gene_variant MELA-AU 14 24616087 24616087 single base substitution G A 5_prime_UTR_variant MELA-AU 14 24616087 24616087 single base substitution G A exon_variant MELA-AU 14 24616087 24616087 single base substitution G A intron_variant MELA-AU 14 24616087 24616087 single base substitution G A upstream_gene_variant MELA-AU 14 24616484 24616484 single base substitution C T intron_variant MELA-AU 14 24616484 24616484 single base substitution C T upstream_gene_variant MELA-AU 14 24616519 24616519 single base substitution G A intron_variant MELA-AU 14 24616519 24616519 single base substitution G A upstream_gene_variant MELA-AU 14 24616673 24616673 single base substitution C T 5_prime_UTR_variant MELA-AU 14 24616673 24616673 single base substitution C T intron_variant MELA-AU 14 24616673 24616673 single base substitution C T upstream_gene_variant MELA-AU 14 24616717 24616717 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 14 24616717 24616717 single base substitution C T exon_variant MELA-AU 14 24616717 24616717 single base substitution C T intron_variant MELA-AU 14 24616717 24616717 single base substitution C T upstream_gene_variant MELA-AU 14 24617345 24617345 single base substitution C T downstream_gene_variant MELA-AU 14 24617345 24617345 single base substitution C T intron_variant MELA-AU 14 24617345 24617345 single base substitution C T upstream_gene_variant MELA-AU 14 24617859 24617860 multiple base substitution (>=2bp and <=200bp) TC CT 5_prime_UTR_variant MELA-AU 14 24617859 24617860 multiple base substitution (>=2bp and <=200bp) TC CT downstream_gene_variant MELA-AU 14 24617859 24617860 multiple base substitution (>=2bp and <=200bp) TC CT exon_variant MELA-AU 14 24617859 24617860 multiple base substitution (>=2bp and <=200bp) TC CT intron_variant MELA-AU 14 24617859 24617860 multiple base substitution (>=2bp and <=200bp) TC CT missense_variant HP168HS MELA-AU 14 24617859 24617860 multiple base substitution (>=2bp and <=200bp) TC CT missense_variant HP17HS MELA-AU 14 24617859 24617860 multiple base substitution (>=2bp and <=200bp) TC CT missense_variant HP68HS MELA-AU 14 24617859 24617860 multiple base substitution (>=2bp and <=200bp) TC CT upstream_gene_variant MELA-AU 14 24618062 24618063 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 14 24618062 24618063 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 14 24618062 24618063 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 14 24618062 24618063 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant P103L 308CC>TT MELA-AU 14 24618062 24618063 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant P18L 53CC>TT MELA-AU 14 24618062 24618063 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant P203L 608CC>TT MELA-AU 14 24618062 24618063 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant P52L 155CC>TT MELA-AU 14 24618062 24618063 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 14 24618282 24618282 single base substitution C T downstream_gene_variant MELA-AU 14 24618282 24618282 single base substitution C T exon_variant MELA-AU 14 24618282 24618282 single base substitution C T intron_variant MELA-AU 14 24618282 24618282 single base substitution C T upstream_gene_variant MELA-AU 14 24618505 24618505 single base substitution C T downstream_gene_variant MELA-AU 14 24618505 24618505 single base substitution C T intron_variant MELA-AU 14 24618505 24618505 single base substitution C T upstream_gene_variant MELA-AU 14 24618730 24618730 single base substitution C T 3_prime_UTR_variant MELA-AU 14 24618730 24618730 single base substitution C T downstream_gene_variant MELA-AU 14 24618730 24618730 single base substitution C T exon_variant MELA-AU 14 24618730 24618730 single base substitution C T intron_variant MELA-AU 14 24618730 24618730 single base substitution C T synonymous_variant S149S 447C>T MELA-AU 14 24618730 24618730 single base substitution C T synonymous_variant S249S 747C>T MELA-AU 14 24618730 24618730 single base substitution C T synonymous_variant S64S 192C>T MELA-AU 14 24618730 24618730 single base substitution C T synonymous_variant S98S 294C>T MELA-AU 14 24618730 24618730 single base substitution C T upstream_gene_variant MELA-AU 14 24619298 24619298 single base substitution C T 3_prime_UTR_variant MELA-AU 14 24619298 24619298 single base substitution C T downstream_gene_variant MELA-AU 14 24619298 24619298 single base substitution C T exon_variant MELA-AU 14 24619298 24619298 single base substitution C T intron_variant MELA-AU 14 24619298 24619298 single base substitution C T stop_gained Q129* 385C>T MELA-AU 14 24619298 24619298 single base substitution C T stop_gained Q180* 538C>T MELA-AU 14 24619298 24619298 single base substitution C T stop_gained Q280* 838C>T MELA-AU 14 24619298 24619298 single base substitution C T stop_gained Q95* 283C>T MELA-AU 14 24619298 24619298 single base substitution C T upstream_gene_variant MELA-AU 14 24619306 24619306 single base substitution C T 3_prime_UTR_variant MELA-AU 14 24619306 24619306 single base substitution C T downstream_gene_variant MELA-AU 14 24619306 24619306 single base substitution C T exon_variant MELA-AU 14 24619306 24619306 single base substitution C T intron_variant MELA-AU 14 24619306 24619306 single base substitution C T synonymous_variant T131T 393C>T MELA-AU 14 24619306 24619306 single base substitution C T synonymous_variant T182T 546C>T MELA-AU 14 24619306 24619306 single base substitution C T synonymous_variant T282T 846C>T MELA-AU 14 24619306 24619306 single base substitution C T synonymous_variant T97T 291C>T MELA-AU 14 24619306 24619306 single base substitution C T upstream_gene_variant MELA-AU 14 24619573 24619573 single base substitution C T downstream_gene_variant MELA-AU 14 24619573 24619573 single base substitution C T intron_variant MELA-AU 14 24619573 24619573 single base substitution C T synonymous_variant S220S 660C>T MELA-AU 14 24619573 24619573 single base substitution C T synonymous_variant S271S 813C>T MELA-AU 14 24619573 24619573 single base substitution C T synonymous_variant S371S 1113C>T MELA-AU 14 24619573 24619573 single base substitution C T upstream_gene_variant MELA-AU 14 24619733 24619733 single base substitution C T downstream_gene_variant MELA-AU 14 24619733 24619733 single base substitution C T intron_variant MELA-AU 14 24619733 24619733 single base substitution C T upstream_gene_variant MELA-AU 14 24619743 24619743 single base substitution C T downstream_gene_variant MELA-AU 14 24619743 24619743 single base substitution C T intron_variant MELA-AU 14 24619743 24619743 single base substitution C T upstream_gene_variant MELA-AU 14 24619744 24619744 single base substitution C T downstream_gene_variant MELA-AU 14 24619744 24619744 single base substitution C T intron_variant MELA-AU 14 24619744 24619744 single base substitution C T upstream_gene_variant MELA-AU 14 24620012 24620012 single base substitution C T downstream_gene_variant MELA-AU 14 24620012 24620012 single base substitution C T intron_variant MELA-AU 14 24620012 24620012 single base substitution C T missense_variant P317L 950C>T MELA-AU 14 24620012 24620012 single base substitution C T missense_variant P368L 1103C>T MELA-AU 14 24620012 24620012 single base substitution C T missense_variant P468L 1403C>T MELA-AU 14 24620012 24620012 single base substitution C T upstream_gene_variant MELA-AU 14 24620014 24620014 single base substitution C T downstream_gene_variant MELA-AU 14 24620014 24620014 single base substitution C T intron_variant MELA-AU 14 24620014 24620014 single base substitution C T synonymous_variant L318L 952C>T MELA-AU 14 24620014 24620014 single base substitution C T synonymous_variant L369L 1105C>T MELA-AU 14 24620014 24620014 single base substitution C T synonymous_variant L469L 1405C>T MELA-AU 14 24620014 24620014 single base substitution C T upstream_gene_variant MELA-AU 14 24620325 24620326 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 14 24620325 24620326 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 14 24620325 24620326 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 14 24620325 24620326 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 14 24620425 24620425 single base substitution G A downstream_gene_variant MELA-AU 14 24620425 24620425 single base substitution G A exon_variant MELA-AU 14 24620425 24620425 single base substitution G A intron_variant MELA-AU 14 24620425 24620425 single base substitution G A missense_variant R374H 1121G>A MELA-AU 14 24620425 24620425 single base substitution G A missense_variant R525H 1574G>A MELA-AU 14 24620425 24620425 single base substitution G A upstream_gene_variant MELA-AU 14 24620620 24620620 single base substitution G A downstream_gene_variant MELA-AU 14 24620620 24620620 single base substitution G A intron_variant MELA-AU 14 24620620 24620620 single base substitution G A upstream_gene_variant MELA-AU 14 24620947 24620947 single base substitution C T downstream_gene_variant MELA-AU 14 24620947 24620947 single base substitution C T intron_variant MELA-AU 14 24620947 24620947 single base substitution C T upstream_gene_variant MELA-AU 14 24621198 24621199 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 14 24621198 24621199 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant NR553NW MELA-AU 14 24621198 24621199 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant NR558NW MELA-AU 14 24621198 24621199 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant NR709NW MELA-AU 14 24621198 24621199 multiple base substitution (>=2bp and <=200bp) CC TT splice_region_variant MELA-AU 14 24621198 24621199 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 14 24621635 24621635 single base substitution C T downstream_gene_variant MELA-AU 14 24621635 24621635 single base substitution C T intron_variant MELA-AU 14 24621635 24621635 single base substitution C T upstream_gene_variant MELA-AU 14 24621639 24621639 single base substitution T C downstream_gene_variant MELA-AU 14 24621639 24621639 single base substitution T C intron_variant MELA-AU 14 24621639 24621639 single base substitution T C upstream_gene_variant MELA-AU 14 24622110 24622110 single base substitution G T downstream_gene_variant MELA-AU 14 24622110 24622110 single base substitution G T intron_variant MELA-AU 14 24622110 24622110 single base substitution G T upstream_gene_variant MELA-AU 14 24622477 24622477 single base substitution G A downstream_gene_variant MELA-AU 14 24622477 24622477 single base substitution G A intron_variant MELA-AU 14 24622477 24622477 single base substitution G A upstream_gene_variant MELA-AU 14 24623897 24623897 single base substitution C T downstream_gene_variant MELA-AU 14 24623897 24623897 single base substitution C T intron_variant MELA-AU 14 24623897 24623897 single base substitution C T upstream_gene_variant MELA-AU 14 24623933 24623933 single base substitution C T downstream_gene_variant MELA-AU 14 24623933 24623933 single base substitution C T intron_variant MELA-AU 14 24623933 24623933 single base substitution C T upstream_gene_variant MELA-AU 14 24624226 24624226 single base substitution C T 5_prime_UTR_variant MELA-AU 14 24624226 24624226 single base substitution C T downstream_gene_variant MELA-AU 14 24624226 24624226 single base substitution C T intron_variant MELA-AU 14 24624226 24624226 single base substitution C T upstream_gene_variant MELA-AU 14 24624293 24624293 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 14 24624293 24624293 single base substitution C T downstream_gene_variant MELA-AU 14 24624293 24624293 single base substitution C T intron_variant MELA-AU 14 24624293 24624293 single base substitution C T upstream_gene_variant MELA-AU 14 24624551 24624551 single base substitution C T intron_variant MELA-AU 14 24624551 24624551 single base substitution C T upstream_gene_variant MELA-AU 14 24625956 24625956 single base substitution C T intron_variant MELA-AU 14 24625956 24625956 single base substitution C T upstream_gene_variant MELA-AU 14 24626985 24626985 single base substitution C T downstream_gene_variant MELA-AU 14 24626985 24626985 single base substitution C T exon_variant MELA-AU 14 24626985 24626985 single base substitution C T intron_variant MELA-AU 14 24626985 24626985 single base substitution C T upstream_gene_variant MELA-AU 14 24627966 24627967 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 14 24627966 24627967 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 14 24627966 24627967 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 14 24627981 24627981 single base substitution C T downstream_gene_variant MELA-AU 14 24627981 24627981 single base substitution C T intron_variant MELA-AU 14 24627981 24627981 single base substitution C T upstream_gene_variant MELA-AU 14 24628301 24628301 single base substitution C T downstream_gene_variant MELA-AU 14 24628301 24628301 single base substitution C T intron_variant MELA-AU 14 24628301 24628301 single base substitution C T upstream_gene_variant MELA-AU 14 24628992 24628992 single base substitution C T downstream_gene_variant MELA-AU 14 24628992 24628992 single base substitution C T intron_variant MELA-AU 14 24628992 24628992 single base substitution C T upstream_gene_variant MELA-AU 14 24629009 24629009 single base substitution C T downstream_gene_variant MELA-AU 14 24629009 24629009 single base substitution C T exon_variant MELA-AU 14 24629009 24629009 single base substitution C T intron_variant MELA-AU 14 24629009 24629009 single base substitution C T upstream_gene_variant MELA-AU 14 24629052 24629052 single base substitution C T downstream_gene_variant MELA-AU 14 24629052 24629052 single base substitution C T exon_variant MELA-AU 14 24629052 24629052 single base substitution C T intron_variant MELA-AU 14 24629052 24629052 single base substitution C T upstream_gene_variant MELA-AU 14 24629144 24629144 single base substitution C T 3_prime_UTR_variant MELA-AU 14 24629144 24629144 single base substitution C T downstream_gene_variant MELA-AU 14 24629144 24629144 single base substitution C T exon_variant MELA-AU 14 24629144 24629144 single base substitution C T intron_variant MELA-AU 14 24629144 24629144 single base substitution C T missense_variant P835S 2503C>T MELA-AU 14 24629144 24629144 single base substitution C T missense_variant P83S 247C>T MELA-AU 14 24629144 24629144 single base substitution C T missense_variant P840S 2518C>T MELA-AU 14 24629144 24629144 single base substitution C T missense_variant P991S 2971C>T MELA-AU 14 24629144 24629144 single base substitution C T upstream_gene_variant MELA-AU 14 24629362 24629362 single base substitution C T downstream_gene_variant MELA-AU 14 24629362 24629362 single base substitution C T exon_variant MELA-AU 14 24629362 24629362 single base substitution C T intron_variant MELA-AU 14 24629749 24629749 single base substitution C T 3_prime_UTR_variant MELA-AU 14 24629749 24629749 single base substitution C T downstream_gene_variant MELA-AU 14 24629749 24629749 single base substitution C T exon_variant MELA-AU 14 24629749 24629749 single base substitution C T synonymous_variant P1062P 3186C>T MELA-AU 14 24629749 24629749 single base substitution C T synonymous_variant P154P 462C>T MELA-AU 14 24629749 24629749 single base substitution C T synonymous_variant P906P 2718C>T MELA-AU 14 24629749 24629749 single base substitution C T synonymous_variant P911P 2733C>T MELA-AU 14 24630631 24630631 single base substitution C T downstream_gene_variant MELA-AU 14 24631201 24631201 single base substitution C T downstream_gene_variant MELA-AU 14 24631758 24631759 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 14 24632675 24632675 single base substitution C T downstream_gene_variant MELA-AU 14 24633481 24633481 single base substitution A T downstream_gene_variant MELA-AU 14 24633818 24633818 single base substitution C T downstream_gene_variant MELA-AU 14 24634104 24634104 single base substitution C T downstream_gene_variant MELA-AU 14 24634652 24634652 single base substitution C T downstream_gene_variant ORCA-IN 14 24611962 24611962 single base substitution C T upstream_gene_variant ORCA-IN 14 24615754 24615754 single base substitution C A upstream_gene_variant ORCA-IN 14 24617309 24617309 single base substitution G T 5_prime_UTR_variant ORCA-IN 14 24617309 24617309 single base substitution G T downstream_gene_variant ORCA-IN 14 24617309 24617309 single base substitution G T exon_variant ORCA-IN 14 24617309 24617309 single base substitution G T intron_variant ORCA-IN 14 24617309 24617309 single base substitution G T missense_variant R106L 317G>T ORCA-IN 14 24617309 24617309 single base substitution G T missense_variant R6L 17G>T ORCA-IN 14 24617309 24617309 single base substitution G T upstream_gene_variant ORCA-IN 14 24617857 24617857 single base substitution C T 5_prime_UTR_variant ORCA-IN 14 24617857 24617857 single base substitution C T downstream_gene_variant ORCA-IN 14 24617857 24617857 single base substitution C T exon_variant ORCA-IN 14 24617857 24617857 single base substitution C T intron_variant ORCA-IN 14 24617857 24617857 single base substitution C T missense_variant H168Y 502C>T ORCA-IN 14 24617857 24617857 single base substitution C T missense_variant H17Y 49C>T ORCA-IN 14 24617857 24617857 single base substitution C T missense_variant H68Y 202C>T ORCA-IN 14 24617857 24617857 single base substitution C T upstream_gene_variant ORCA-IN 14 24621172 24621172 single base substitution G T 3_prime_UTR_variant ORCA-IN 14 24621172 24621172 single base substitution G T downstream_gene_variant ORCA-IN 14 24621172 24621172 single base substitution G T exon_variant ORCA-IN 14 24621172 24621172 single base substitution G T missense_variant V545L 1633G>T ORCA-IN 14 24621172 24621172 single base substitution G T missense_variant V550L 1648G>T ORCA-IN 14 24621172 24621172 single base substitution G T missense_variant V701L 2101G>T ORCA-IN 14 24621172 24621172 single base substitution G T upstream_gene_variant ORCA-IN 14 24626787 24626787 single base substitution C G 3_prime_UTR_variant ORCA-IN 14 24626787 24626787 single base substitution C G downstream_gene_variant ORCA-IN 14 24626787 24626787 single base substitution C G exon_variant ORCA-IN 14 24626787 24626787 single base substitution C G missense_variant H19Q 57C>G ORCA-IN 14 24626787 24626787 single base substitution C G missense_variant H733Q 2199C>G ORCA-IN 14 24626787 24626787 single base substitution C G missense_variant H738Q 2214C>G ORCA-IN 14 24626787 24626787 single base substitution C G missense_variant H889Q 2667C>G ORCA-IN 14 24626787 24626787 single base substitution C G upstream_gene_variant ORCA-IN 14 24627129 24627129 single base substitution G A 3_prime_UTR_variant ORCA-IN 14 24627129 24627129 single base substitution G A downstream_gene_variant ORCA-IN 14 24627129 24627129 single base substitution G A exon_variant ORCA-IN 14 24627129 24627129 single base substitution G A intron_variant ORCA-IN 14 24627129 24627129 single base substitution G A missense_variant R761K 2282G>A ORCA-IN 14 24627129 24627129 single base substitution G A missense_variant R766K 2297G>A ORCA-IN 14 24627129 24627129 single base substitution G A missense_variant R917K 2750G>A ORCA-IN 14 24627129 24627129 single base substitution G A upstream_gene_variant OV-AU 14 24616110 24616110 single base substitution G T 5_prime_UTR_variant OV-AU 14 24616110 24616110 single base substitution G T exon_variant OV-AU 14 24616110 24616110 single base substitution G T intron_variant OV-AU 14 24616110 24616110 single base substitution G T upstream_gene_variant OV-AU 14 24616594 24616594 single base substitution T C 5_prime_UTR_variant OV-AU 14 24616594 24616594 single base substitution T C intron_variant OV-AU 14 24616594 24616594 single base substitution T C upstream_gene_variant OV-AU 14 24621631 24621631 single base substitution T C downstream_gene_variant OV-AU 14 24621631 24621631 single base substitution T C intron_variant OV-AU 14 24621631 24621631 single base substitution T C upstream_gene_variant OV-AU 14 24633011 24633011 single base substitution A T downstream_gene_variant OV-US 14 24632648 24632648 single base substitution G T downstream_gene_variant PACA-AU 14 24618074 24618074 single base substitution C T downstream_gene_variant PACA-AU 14 24618074 24618074 single base substitution C T exon_variant PACA-AU 14 24618074 24618074 single base substitution C T intron_variant PACA-AU 14 24618074 24618074 single base substitution C T missense_variant P107L 320C>T PACA-AU 14 24618074 24618074 single base substitution C T missense_variant P207L 620C>T PACA-AU 14 24618074 24618074 single base substitution C T missense_variant P22L 65C>T PACA-AU 14 24618074 24618074 single base substitution C T missense_variant P56L 167C>T PACA-AU 14 24618074 24618074 single base substitution C T upstream_gene_variant PACA-AU 14 24621838 24621838 single base substitution G A downstream_gene_variant PACA-AU 14 24621838 24621838 single base substitution G A intron_variant PACA-AU 14 24621838 24621838 single base substitution G A upstream_gene_variant PACA-AU 14 24622236 24622236 single base substitution G A downstream_gene_variant PACA-AU 14 24622236 24622236 single base substitution G A intron_variant PACA-AU 14 24622236 24622236 single base substitution G A upstream_gene_variant PACA-AU 14 24622904 24622904 single base substitution G A downstream_gene_variant PACA-AU 14 24622904 24622904 single base substitution G A intron_variant PACA-AU 14 24622904 24622904 single base substitution G A upstream_gene_variant PACA-AU 14 24624728 24624728 single base substitution G A splice_region_variant PACA-AU 14 24624728 24624728 single base substitution G A upstream_gene_variant PACA-AU 14 24626430 24626430 single base substitution G A intron_variant PACA-AU 14 24626430 24626430 single base substitution G A upstream_gene_variant PACA-AU 14 24627244 24627244 single base substitution A G downstream_gene_variant PACA-AU 14 24627244 24627244 single base substitution A G intron_variant PACA-AU 14 24627244 24627244 single base substitution A G upstream_gene_variant PACA-AU 14 24627337 24627340 deletion of <=200bp TCTC - downstream_gene_variant PACA-AU 14 24627337 24627340 deletion of <=200bp TCTC - intron_variant PACA-AU 14 24627337 24627340 deletion of <=200bp TCTC - upstream_gene_variant PACA-AU 14 24632220 24632220 single base substitution G T downstream_gene_variant PACA-CA 14 24615244 24615244 single base substitution G A upstream_gene_variant PACA-CA 14 24615487 24615487 single base substitution C T upstream_gene_variant PACA-CA 14 24616733 24616733 single base substitution C G 5_prime_UTR_variant PACA-CA 14 24616733 24616733 single base substitution C G exon_variant PACA-CA 14 24616733 24616733 single base substitution C G intron_variant PACA-CA 14 24616733 24616733 single base substitution C G upstream_gene_variant PACA-CA 14 24625524 24625524 single base substitution T G intron_variant PACA-CA 14 24625524 24625524 single base substitution T G upstream_gene_variant PACA-CA 14 24628373 24628373 insertion of <=200bp - T downstream_gene_variant PACA-CA 14 24628373 24628373 insertion of <=200bp - T intron_variant PACA-CA 14 24628373 24628373 insertion of <=200bp - T upstream_gene_variant PACA-CA 14 24630449 24630449 single base substitution T C downstream_gene_variant PACA-CA 14 24633854 24633854 single base substitution C G downstream_gene_variant PACA-CA 14 24634010 24634010 deletion of <=200bp C - downstream_gene_variant PAEN-IT 14 24625296 24625296 single base substitution A G intron_variant PAEN-IT 14 24625296 24625296 single base substitution A G upstream_gene_variant PBCA-DE 14 24629082 24629082 single base substitution G A 3_prime_UTR_variant PBCA-DE 14 24629082 24629082 single base substitution G A downstream_gene_variant PBCA-DE 14 24629082 24629082 single base substitution G A exon_variant PBCA-DE 14 24629082 24629082 single base substitution G A intron_variant PBCA-DE 14 24629082 24629082 single base substitution G A missense_variant R62Q 185G>A PBCA-DE 14 24629082 24629082 single base substitution G A missense_variant R814Q 2441G>A PBCA-DE 14 24629082 24629082 single base substitution G A missense_variant R819Q 2456G>A PBCA-DE 14 24629082 24629082 single base substitution G A missense_variant R970Q 2909G>A PBCA-DE 14 24629082 24629082 single base substitution G A upstream_gene_variant PRAD-CA 14 24614592 24614592 single base substitution T C upstream_gene_variant PRAD-UK 14 24626341 24626341 single base substitution G C intron_variant PRAD-UK 14 24626341 24626341 single base substitution G C upstream_gene_variant PRAD-UK 14 24634798 24634798 single base substitution C G downstream_gene_variant PRAD-US 14 24617597 24617597 single base substitution G A 5_prime_UTR_variant PRAD-US 14 24617597 24617597 single base substitution G A downstream_gene_variant PRAD-US 14 24617597 24617597 single base substitution G A exon_variant PRAD-US 14 24617597 24617597 single base substitution G A intron_variant PRAD-US 14 24617597 24617597 single base substitution G A missense_variant R157Q 470G>A PRAD-US 14 24617597 24617597 single base substitution G A missense_variant R57Q 170G>A PRAD-US 14 24617597 24617597 single base substitution G A upstream_gene_variant PRAD-US 14 24618082 24618082 single base substitution C A downstream_gene_variant PRAD-US 14 24618082 24618082 single base substitution C A exon_variant PRAD-US 14 24618082 24618082 single base substitution C A intron_variant PRAD-US 14 24618082 24618082 single base substitution C A missense_variant P110T 328C>A PRAD-US 14 24618082 24618082 single base substitution C A missense_variant P210T 628C>A PRAD-US 14 24618082 24618082 single base substitution C A missense_variant P25T 73C>A PRAD-US 14 24618082 24618082 single base substitution C A missense_variant P59T 175C>A PRAD-US 14 24618082 24618082 single base substitution C A upstream_gene_variant PRAD-US 14 24619808 24619808 insertion of <=200bp - G downstream_gene_variant PRAD-US 14 24619808 24619808 insertion of <=200bp - G frameshift_variant Q249R? PRAD-US 14 24619808 24619808 insertion of <=200bp - G frameshift_variant Q300R? PRAD-US 14 24619808 24619808 insertion of <=200bp - G frameshift_variant Q400R? PRAD-US 14 24619808 24619808 insertion of <=200bp - G intron_variant PRAD-US 14 24619808 24619808 insertion of <=200bp - G upstream_gene_variant PRAD-US 14 24619809 24619809 deletion of <=200bp G - downstream_gene_variant PRAD-US 14 24619809 24619809 deletion of <=200bp G - frameshift_variant Q249 PRAD-US 14 24619809 24619809 deletion of <=200bp G - frameshift_variant Q300 PRAD-US 14 24619809 24619809 deletion of <=200bp G - frameshift_variant Q400 PRAD-US 14 24619809 24619809 deletion of <=200bp G - intron_variant PRAD-US 14 24619809 24619809 deletion of <=200bp G - upstream_gene_variant PRAD-US 14 24621084 24621085 deletion of <=200bp GA - downstream_gene_variant PRAD-US 14 24621084 24621085 deletion of <=200bp GA - exon_variant PRAD-US 14 24621084 24621085 deletion of <=200bp GA - frameshift_variant RN515 PRAD-US 14 24621084 24621085 deletion of <=200bp GA - frameshift_variant RN520 PRAD-US 14 24621084 24621085 deletion of <=200bp GA - frameshift_variant RN671 PRAD-US 14 24621084 24621085 deletion of <=200bp GA - upstream_gene_variant PRAD-US 14 24632648 24632648 single base substitution G A downstream_gene_variant RECA-EU 14 24620033 24620033 single base substitution A T downstream_gene_variant RECA-EU 14 24620033 24620033 single base substitution A T intron_variant RECA-EU 14 24620033 24620033 single base substitution A T missense_variant D324V 971A>T RECA-EU 14 24620033 24620033 single base substitution A T missense_variant D375V 1124A>T RECA-EU 14 24620033 24620033 single base substitution A T missense_variant D475V 1424A>T RECA-EU 14 24620033 24620033 single base substitution A T upstream_gene_variant RECA-EU 14 24632985 24632985 single base substitution G A downstream_gene_variant RECA-EU 14 24633850 24633850 single base substitution A G downstream_gene_variant SKCA-BR 14 24616092 24616092 single base substitution G A 5_prime_UTR_variant SKCA-BR 14 24616092 24616092 single base substitution G A exon_variant SKCA-BR 14 24616092 24616092 single base substitution G A intron_variant SKCA-BR 14 24616092 24616092 single base substitution G A upstream_gene_variant SKCA-BR 14 24617433 24617433 single base substitution C T downstream_gene_variant SKCA-BR 14 24617433 24617433 single base substitution C T intron_variant SKCA-BR 14 24617433 24617433 single base substitution C T upstream_gene_variant SKCA-BR 14 24626623 24626623 single base substitution C T downstream_gene_variant SKCA-BR 14 24626623 24626623 single base substitution C T intron_variant SKCA-BR 14 24626623 24626623 single base substitution C T upstream_gene_variant SKCA-BR 14 24627406 24627406 single base substitution G A downstream_gene_variant SKCA-BR 14 24627406 24627406 single base substitution G A missense_variant G58E 173G>A SKCA-BR 14 24627406 24627406 single base substitution G A missense_variant G810E 2429G>A SKCA-BR 14 24627406 24627406 single base substitution G A missense_variant G815E 2444G>A SKCA-BR 14 24627406 24627406 single base substitution G A missense_variant G966E 2897G>A SKCA-BR 14 24627406 24627406 single base substitution G A splice_region_variant SKCA-BR 14 24627406 24627406 single base substitution G A upstream_gene_variant SKCA-BR 14 24628020 24628020 single base substitution T C downstream_gene_variant SKCA-BR 14 24628020 24628020 single base substitution T C intron_variant SKCA-BR 14 24628020 24628020 single base substitution T C upstream_gene_variant SKCA-BR 14 24628022 24628022 single base substitution A G downstream_gene_variant SKCA-BR 14 24628022 24628022 single base substitution A G intron_variant SKCA-BR 14 24628022 24628022 single base substitution A G upstream_gene_variant SKCA-BR 14 24628030 24628030 single base substitution A G downstream_gene_variant SKCA-BR 14 24628030 24628030 single base substitution A G intron_variant SKCA-BR 14 24628030 24628030 single base substitution A G upstream_gene_variant SKCA-BR 14 24628033 24628033 insertion of <=200bp - CAGG downstream_gene_variant SKCA-BR 14 24628033 24628033 insertion of <=200bp - CAGG intron_variant SKCA-BR 14 24628033 24628033 insertion of <=200bp - CAGG upstream_gene_variant SKCA-BR 14 24628561 24628561 insertion of <=200bp - CA downstream_gene_variant SKCA-BR 14 24628561 24628561 insertion of <=200bp - CA intron_variant SKCA-BR 14 24628561 24628561 insertion of <=200bp - CA upstream_gene_variant SKCA-BR 14 24628816 24628816 single base substitution C A downstream_gene_variant SKCA-BR 14 24628816 24628816 single base substitution C A intron_variant SKCA-BR 14 24628816 24628816 single base substitution C A upstream_gene_variant SKCA-BR 14 24630277 24630277 single base substitution G A downstream_gene_variant SKCA-BR 14 24630868 24630868 single base substitution C T downstream_gene_variant SKCA-BR 14 24631516 24631516 single base substitution G A downstream_gene_variant SKCA-BR 14 24633228 24633228 single base substitution C T downstream_gene_variant SKCM-US 14 24613200 24613200 single base substitution G A upstream_gene_variant SKCM-US 14 24613611 24613611 single base substitution G A upstream_gene_variant SKCM-US 14 24613646 24613646 single base substitution T C upstream_gene_variant SKCM-US 14 24613650 24613650 single base substitution G A upstream_gene_variant SKCM-US 14 24614322 24614322 single base substitution G A upstream_gene_variant SKCM-US 14 24618631 24618631 single base substitution C T downstream_gene_variant SKCM-US 14 24618631 24618631 single base substitution C T exon_variant SKCM-US 14 24618631 24618631 single base substitution C T intron_variant SKCM-US 14 24618631 24618631 single base substitution C T synonymous_variant P116P 348C>T SKCM-US 14 24618631 24618631 single base substitution C T synonymous_variant P216P 648C>T SKCM-US 14 24618631 24618631 single base substitution C T synonymous_variant P31P 93C>T SKCM-US 14 24618631 24618631 single base substitution C T synonymous_variant P65P 195C>T SKCM-US 14 24618631 24618631 single base substitution C T upstream_gene_variant SKCM-US 14 24618730 24618730 single base substitution C T 3_prime_UTR_variant SKCM-US 14 24618730 24618730 single base substitution C T downstream_gene_variant SKCM-US 14 24618730 24618730 single base substitution C T exon_variant SKCM-US 14 24618730 24618730 single base substitution C T intron_variant SKCM-US 14 24618730 24618730 single base substitution C T synonymous_variant S149S 447C>T SKCM-US 14 24618730 24618730 single base substitution C T synonymous_variant S249S 747C>T SKCM-US 14 24618730 24618730 single base substitution C T synonymous_variant S64S 192C>T SKCM-US 14 24618730 24618730 single base substitution C T synonymous_variant S98S 294C>T SKCM-US 14 24618730 24618730 single base substitution C T upstream_gene_variant SKCM-US 14 24618780 24618780 single base substitution A T 3_prime_UTR_variant SKCM-US 14 24618780 24618780 single base substitution A T downstream_gene_variant SKCM-US 14 24618780 24618780 single base substitution A T exon_variant SKCM-US 14 24618780 24618780 single base substitution A T intron_variant SKCM-US 14 24618780 24618780 single base substitution A T missense_variant H115L 344A>T SKCM-US 14 24618780 24618780 single base substitution A T missense_variant H166L 497A>T SKCM-US 14 24618780 24618780 single base substitution A T missense_variant H266L 797A>T SKCM-US 14 24618780 24618780 single base substitution A T missense_variant H81L 242A>T SKCM-US 14 24618780 24618780 single base substitution A T upstream_gene_variant SKCM-US 14 24619927 24619927 single base substitution C T downstream_gene_variant SKCM-US 14 24619927 24619927 single base substitution C T intron_variant SKCM-US 14 24619927 24619927 single base substitution C T missense_variant P289S 865C>T SKCM-US 14 24619927 24619927 single base substitution C T missense_variant P340S 1018C>T SKCM-US 14 24619927 24619927 single base substitution C T missense_variant P440S 1318C>T SKCM-US 14 24619927 24619927 single base substitution C T upstream_gene_variant SKCM-US 14 24619941 24619941 single base substitution C T downstream_gene_variant SKCM-US 14 24619941 24619941 single base substitution C T intron_variant SKCM-US 14 24619941 24619941 single base substitution C T synonymous_variant A293A 879C>T SKCM-US 14 24619941 24619941 single base substitution C T synonymous_variant A344A 1032C>T SKCM-US 14 24619941 24619941 single base substitution C T synonymous_variant A444A 1332C>T SKCM-US 14 24619941 24619941 single base substitution C T upstream_gene_variant SKCM-US 14 24619980 24619980 single base substitution C T downstream_gene_variant SKCM-US 14 24619980 24619980 single base substitution C T intron_variant SKCM-US 14 24619980 24619980 single base substitution C T synonymous_variant P306P 918C>T SKCM-US 14 24619980 24619980 single base substitution C T synonymous_variant P357P 1071C>T SKCM-US 14 24619980 24619980 single base substitution C T synonymous_variant P457P 1371C>T SKCM-US 14 24619980 24619980 single base substitution C T upstream_gene_variant SKCM-US 14 24619993 24619993 single base substitution C T downstream_gene_variant SKCM-US 14 24619993 24619993 single base substitution C T intron_variant SKCM-US 14 24619993 24619993 single base substitution C T missense_variant P311S 931C>T SKCM-US 14 24619993 24619993 single base substitution C T missense_variant P362S 1084C>T SKCM-US 14 24619993 24619993 single base substitution C T missense_variant P462S 1384C>T SKCM-US 14 24619993 24619993 single base substitution C T upstream_gene_variant SKCM-US 14 24620500 24620500 single base substitution C T downstream_gene_variant SKCM-US 14 24620500 24620500 single base substitution C T exon_variant SKCM-US 14 24620500 24620500 single base substitution C T intron_variant SKCM-US 14 24620500 24620500 single base substitution C T missense_variant S399F 1196C>T SKCM-US 14 24620500 24620500 single base substitution C T missense_variant S550F 1649C>T SKCM-US 14 24620500 24620500 single base substitution C T splice_region_variant SKCM-US 14 24620500 24620500 single base substitution C T upstream_gene_variant SKCM-US 14 24620532 24620532 single base substitution C T downstream_gene_variant SKCM-US 14 24620532 24620532 single base substitution C T exon_variant SKCM-US 14 24620532 24620532 single base substitution C T intron_variant SKCM-US 14 24620532 24620532 single base substitution C T missense_variant R405C 1213C>T SKCM-US 14 24620532 24620532 single base substitution C T missense_variant R410C 1228C>T SKCM-US 14 24620532 24620532 single base substitution C T missense_variant R561C 1681C>T SKCM-US 14 24620532 24620532 single base substitution C T upstream_gene_variant SKCM-US 14 24620799 24620799 single base substitution C T downstream_gene_variant SKCM-US 14 24620799 24620799 single base substitution C T exon_variant SKCM-US 14 24620799 24620799 single base substitution C T intron_variant SKCM-US 14 24620799 24620799 single base substitution C T stop_gained Q459* 1375C>T SKCM-US 14 24620799 24620799 single base substitution C T stop_gained Q464* 1390C>T SKCM-US 14 24620799 24620799 single base substitution C T stop_gained Q615* 1843C>T SKCM-US 14 24620799 24620799 single base substitution C T upstream_gene_variant SKCM-US 14 24624861 24624861 single base substitution C T 3_prime_UTR_variant SKCM-US 14 24624861 24624861 single base substitution C T exon_variant SKCM-US 14 24624861 24624861 single base substitution C T missense_variant P108L 323C>T SKCM-US 14 24624861 24624861 single base substitution C T missense_variant P662L 1985C>T SKCM-US 14 24624861 24624861 single base substitution C T missense_variant P667L 2000C>T SKCM-US 14 24624861 24624861 single base substitution C T missense_variant P818L 2453C>T SKCM-US 14 24624861 24624861 single base substitution C T upstream_gene_variant SKCM-US 14 24627402 24627402 single base substitution C T 3_prime_UTR_variant SKCM-US 14 24627402 24627402 single base substitution C T downstream_gene_variant SKCM-US 14 24627402 24627402 single base substitution C T exon_variant SKCM-US 14 24627402 24627402 single base substitution C T missense_variant P57S 169C>T SKCM-US 14 24627402 24627402 single base substitution C T missense_variant P809S 2425C>T SKCM-US 14 24627402 24627402 single base substitution C T missense_variant P814S 2440C>T SKCM-US 14 24627402 24627402 single base substitution C T missense_variant P965S 2893C>T SKCM-US 14 24627402 24627402 single base substitution C T upstream_gene_variant SKCM-US 14 24632675 24632675 single base substitution C T downstream_gene_variant SKCM-US 14 24632695 24632695 single base substitution T C downstream_gene_variant SKCM-US 14 24633132 24633134 deletion of <=200bp AGC - downstream_gene_variant SKCM-US 14 24633331 24633331 single base substitution C T downstream_gene_variant STAD-US 14 24613431 24613431 single base substitution T C upstream_gene_variant STAD-US 14 24617255 24617255 single base substitution G A 5_prime_UTR_variant STAD-US 14 24617255 24617255 single base substitution G A downstream_gene_variant STAD-US 14 24617255 24617255 single base substitution G A exon_variant STAD-US 14 24617255 24617255 single base substitution G A intron_variant STAD-US 14 24617255 24617255 single base substitution G A missense_variant S88N 263G>A STAD-US 14 24617255 24617255 single base substitution G A upstream_gene_variant STAD-US 14 24617593 24617593 single base substitution C A 5_prime_UTR_variant STAD-US 14 24617593 24617593 single base substitution C A downstream_gene_variant STAD-US 14 24617593 24617593 single base substitution C A exon_variant STAD-US 14 24617593 24617593 single base substitution C A intron_variant STAD-US 14 24617593 24617593 single base substitution C A missense_variant L156I 466C>A STAD-US 14 24617593 24617593 single base substitution C A missense_variant L56I 166C>A STAD-US 14 24617593 24617593 single base substitution C A upstream_gene_variant STAD-US 14 24618731 24618731 single base substitution C T 3_prime_UTR_variant STAD-US 14 24618731 24618731 single base substitution C T downstream_gene_variant STAD-US 14 24618731 24618731 single base substitution C T exon_variant STAD-US 14 24618731 24618731 single base substitution C T intron_variant STAD-US 14 24618731 24618731 single base substitution C T missense_variant R150C 448C>T STAD-US 14 24618731 24618731 single base substitution C T missense_variant R250C 748C>T STAD-US 14 24618731 24618731 single base substitution C T missense_variant R65C 193C>T STAD-US 14 24618731 24618731 single base substitution C T missense_variant R99C 295C>T STAD-US 14 24618731 24618731 single base substitution C T upstream_gene_variant STAD-US 14 24619849 24619849 single base substitution T C downstream_gene_variant STAD-US 14 24619849 24619849 single base substitution T C intron_variant STAD-US 14 24619849 24619849 single base substitution T C missense_variant Y263H 787T>C STAD-US 14 24619849 24619849 single base substitution T C missense_variant Y314H 940T>C STAD-US 14 24619849 24619849 single base substitution T C missense_variant Y414H 1240T>C STAD-US 14 24619849 24619849 single base substitution T C upstream_gene_variant STAD-US 14 24619940 24619940 insertion of <=200bp - C downstream_gene_variant STAD-US 14 24619940 24619940 insertion of <=200bp - C frameshift_variant A293A? STAD-US 14 24619940 24619940 insertion of <=200bp - C frameshift_variant A344A? STAD-US 14 24619940 24619940 insertion of <=200bp - C frameshift_variant A444A? STAD-US 14 24619940 24619940 insertion of <=200bp - C intron_variant STAD-US 14 24619940 24619940 insertion of <=200bp - C upstream_gene_variant STAD-US 14 24619997 24619997 single base substitution G A downstream_gene_variant STAD-US 14 24619997 24619997 single base substitution G A intron_variant STAD-US 14 24619997 24619997 single base substitution G A missense_variant R312Q 935G>A STAD-US 14 24619997 24619997 single base substitution G A missense_variant R363Q 1088G>A STAD-US 14 24619997 24619997 single base substitution G A missense_variant R463Q 1388G>A STAD-US 14 24619997 24619997 single base substitution G A upstream_gene_variant STAD-US 14 24620009 24620009 deletion of <=200bp C - downstream_gene_variant STAD-US 14 24620009 24620009 deletion of <=200bp C - frameshift_variant A316 STAD-US 14 24620009 24620009 deletion of <=200bp C - frameshift_variant A367 STAD-US 14 24620009 24620009 deletion of <=200bp C - frameshift_variant A467 STAD-US 14 24620009 24620009 deletion of <=200bp C - intron_variant STAD-US 14 24620009 24620009 deletion of <=200bp C - upstream_gene_variant STAD-US 14 24620458 24620458 single base substitution C T downstream_gene_variant STAD-US 14 24620458 24620458 single base substitution C T exon_variant STAD-US 14 24620458 24620458 single base substitution C T intron_variant STAD-US 14 24620458 24620458 single base substitution C T missense_variant A385V 1154C>T STAD-US 14 24620458 24620458 single base substitution C T missense_variant A536V 1607C>T STAD-US 14 24620458 24620458 single base substitution C T upstream_gene_variant STAD-US 14 24620520 24620520 single base substitution G T downstream_gene_variant STAD-US 14 24620520 24620520 single base substitution G T exon_variant STAD-US 14 24620520 24620520 single base substitution G T intron_variant STAD-US 14 24620520 24620520 single base substitution G T missense_variant A401S 1201G>T STAD-US 14 24620520 24620520 single base substitution G T missense_variant A406S 1216G>T STAD-US 14 24620520 24620520 single base substitution G T missense_variant A557S 1669G>T STAD-US 14 24620520 24620520 single base substitution G T upstream_gene_variant STAD-US 14 24620776 24620776 single base substitution G A downstream_gene_variant STAD-US 14 24620776 24620776 single base substitution G A exon_variant STAD-US 14 24620776 24620776 single base substitution G A intron_variant STAD-US 14 24620776 24620776 single base substitution G A missense_variant R451Q 1352G>A STAD-US 14 24620776 24620776 single base substitution G A missense_variant R456Q 1367G>A STAD-US 14 24620776 24620776 single base substitution G A missense_variant R607Q 1820G>A STAD-US 14 24620776 24620776 single base substitution G A upstream_gene_variant STAD-US 14 24621133 24621133 single base substitution C T 3_prime_UTR_variant STAD-US 14 24621133 24621133 single base substitution C T downstream_gene_variant STAD-US 14 24621133 24621133 single base substitution C T exon_variant STAD-US 14 24621133 24621133 single base substitution C T missense_variant R532W 1594C>T STAD-US 14 24621133 24621133 single base substitution C T missense_variant R537W 1609C>T STAD-US 14 24621133 24621133 single base substitution C T missense_variant R688W 2062C>T STAD-US 14 24621133 24621133 single base substitution C T upstream_gene_variant STAD-US 14 24624667 24624667 single base substitution G C 3_prime_UTR_variant STAD-US 14 24624667 24624667 single base substitution G C exon_variant STAD-US 14 24624667 24624667 single base substitution G C missense_variant K627N 1881G>C STAD-US 14 24624667 24624667 single base substitution G C missense_variant K632N 1896G>C STAD-US 14 24624667 24624667 single base substitution G C missense_variant K73N 219G>C STAD-US 14 24624667 24624667 single base substitution G C missense_variant K783N 2349G>C STAD-US 14 24624667 24624667 single base substitution G C upstream_gene_variant STAD-US 14 24626574 24626574 single base substitution G A 3_prime_UTR_variant STAD-US 14 24626574 24626574 single base substitution G A downstream_gene_variant STAD-US 14 24626574 24626574 single base substitution G A exon_variant STAD-US 14 24626574 24626574 single base substitution G A missense_variant A701T 2101G>A STAD-US 14 24626574 24626574 single base substitution G A missense_variant A706T 2116G>A STAD-US 14 24626574 24626574 single base substitution G A missense_variant A857T 2569G>A STAD-US 14 24626574 24626574 single base substitution G A upstream_gene_variant STAD-US 14 24626754 24626754 single base substitution C T 3_prime_UTR_variant STAD-US 14 24626754 24626754 single base substitution C T downstream_gene_variant STAD-US 14 24626754 24626754 single base substitution C T exon_variant STAD-US 14 24626754 24626754 single base substitution C T synonymous_variant Y722Y 2166C>T STAD-US 14 24626754 24626754 single base substitution C T synonymous_variant Y727Y 2181C>T STAD-US 14 24626754 24626754 single base substitution C T synonymous_variant Y878Y 2634C>T STAD-US 14 24626754 24626754 single base substitution C T synonymous_variant Y8Y 24C>T STAD-US 14 24626754 24626754 single base substitution C T upstream_gene_variant STAD-US 14 24627108 24627108 single base substitution A T downstream_gene_variant STAD-US 14 24627108 24627108 single base substitution A T exon_variant STAD-US 14 24627108 24627108 single base substitution A T intron_variant STAD-US 14 24627108 24627108 single base substitution A T missense_variant K754I 2261A>T STAD-US 14 24627108 24627108 single base substitution A T missense_variant K759I 2276A>T STAD-US 14 24627108 24627108 single base substitution A T missense_variant K910I 2729A>T STAD-US 14 24627108 24627108 single base substitution A T splice_region_variant STAD-US 14 24627108 24627108 single base substitution A T upstream_gene_variant STAD-US 14 24631403 24631403 single base substitution T C downstream_gene_variant STAD-US 14 24632182 24632182 single base substitution C A downstream_gene_variant STAD-US 14 24632717 24632717 single base substitution T C downstream_gene_variant STAD-US 14 24633132 24633132 insertion of <=200bp - AGC downstream_gene_variant STAD-US 14 24633834 24633834 single base substitution C T downstream_gene_variant STAD-US 14 24633858 24633858 single base substitution C T downstream_gene_variant STAD-US 14 24634066 24634066 single base substitution T C downstream_gene_variant THCA-SA 14 24626844 24626844 single base substitution G C 3_prime_UTR_variant THCA-SA 14 24626844 24626844 single base substitution G C downstream_gene_variant THCA-SA 14 24626844 24626844 single base substitution G C exon_variant THCA-SA 14 24626844 24626844 single base substitution G C missense_variant K38N 114G>C THCA-SA 14 24626844 24626844 single base substitution G C missense_variant K752N 2256G>C THCA-SA 14 24626844 24626844 single base substitution G C missense_variant K757N 2271G>C THCA-SA 14 24626844 24626844 single base substitution G C missense_variant K908N 2724G>C THCA-SA 14 24626844 24626844 single base substitution G C upstream_gene_variant UCEC-US 14 24612871 24612871 single base substitution G A upstream_gene_variant UCEC-US 14 24613226 24613226 single base substitution T C upstream_gene_variant UCEC-US 14 24614371 24614371 single base substitution G A upstream_gene_variant UCEC-US 14 24614958 24614958 single base substitution G T upstream_gene_variant UCEC-US 14 24614962 24614962 single base substitution C A upstream_gene_variant UCEC-US 14 24615432 24615432 single base substitution C T upstream_gene_variant UCEC-US 14 24617281 24617281 single base substitution G A 5_prime_UTR_variant UCEC-US 14 24617281 24617281 single base substitution G A downstream_gene_variant UCEC-US 14 24617281 24617281 single base substitution G A exon_variant UCEC-US 14 24617281 24617281 single base substitution G A intron_variant UCEC-US 14 24617281 24617281 single base substitution G A missense_variant G97S 289G>A UCEC-US 14 24617281 24617281 single base substitution G A upstream_gene_variant UCEC-US 14 24617318 24617318 single base substitution T C 5_prime_UTR_variant UCEC-US 14 24617318 24617318 single base substitution T C downstream_gene_variant UCEC-US 14 24617318 24617318 single base substitution T C exon_variant UCEC-US 14 24617318 24617318 single base substitution T C intron_variant UCEC-US 14 24617318 24617318 single base substitution T C missense_variant V109A 326T>C UCEC-US 14 24617318 24617318 single base substitution T C missense_variant V9A 26T>C UCEC-US 14 24617318 24617318 single base substitution T C upstream_gene_variant UCEC-US 14 24617669 24617669 single base substitution G A downstream_gene_variant UCEC-US 14 24617669 24617669 single base substitution G A exon_variant UCEC-US 14 24617669 24617669 single base substitution G A intron_variant UCEC-US 14 24617669 24617669 single base substitution G A missense_variant E9K 25G>A UCEC-US 14 24617669 24617669 single base substitution G A upstream_gene_variant UCEC-US 14 24618719 24618719 single base substitution G T 3_prime_UTR_variant UCEC-US 14 24618719 24618719 single base substitution G T downstream_gene_variant UCEC-US 14 24618719 24618719 single base substitution G T exon_variant UCEC-US 14 24618719 24618719 single base substitution G T intron_variant UCEC-US 14 24618719 24618719 single base substitution G T stop_gained G146* 436G>T UCEC-US 14 24618719 24618719 single base substitution G T stop_gained G246* 736G>T UCEC-US 14 24618719 24618719 single base substitution G T stop_gained G61* 181G>T UCEC-US 14 24618719 24618719 single base substitution G T stop_gained G95* 283G>T UCEC-US 14 24618719 24618719 single base substitution G T synonymous_variant ?61 UCEC-US 14 24618719 24618719 single base substitution G T upstream_gene_variant UCEC-US 14 24619303 24619303 single base substitution G A 3_prime_UTR_variant UCEC-US 14 24619303 24619303 single base substitution G A downstream_gene_variant UCEC-US 14 24619303 24619303 single base substitution G A exon_variant UCEC-US 14 24619303 24619303 single base substitution G A intron_variant UCEC-US 14 24619303 24619303 single base substitution G A synonymous_variant S130S 390G>A UCEC-US 14 24619303 24619303 single base substitution G A synonymous_variant S181S 543G>A UCEC-US 14 24619303 24619303 single base substitution G A synonymous_variant S281S 843G>A UCEC-US 14 24619303 24619303 single base substitution G A synonymous_variant S96S 288G>A UCEC-US 14 24619303 24619303 single base substitution G A upstream_gene_variant UCEC-US 14 24619330 24619330 single base substitution C T 3_prime_UTR_variant UCEC-US 14 24619330 24619330 single base substitution C T downstream_gene_variant UCEC-US 14 24619330 24619330 single base substitution C T exon_variant UCEC-US 14 24619330 24619330 single base substitution C T intron_variant UCEC-US 14 24619330 24619330 single base substitution C T synonymous_variant S105S 315C>T UCEC-US 14 24619330 24619330 single base substitution C T synonymous_variant S139S 417C>T UCEC-US 14 24619330 24619330 single base substitution C T synonymous_variant S190S 570C>T UCEC-US 14 24619330 24619330 single base substitution C T synonymous_variant S290S 870C>T UCEC-US 14 24619330 24619330 single base substitution C T upstream_gene_variant UCEC-US 14 24619440 24619440 single base substitution G A 3_prime_UTR_variant UCEC-US 14 24619440 24619440 single base substitution G A downstream_gene_variant UCEC-US 14 24619440 24619440 single base substitution G A exon_variant UCEC-US 14 24619440 24619440 single base substitution G A intron_variant UCEC-US 14 24619440 24619440 single base substitution G A missense_variant R142Q 425G>A UCEC-US 14 24619440 24619440 single base substitution G A missense_variant R176Q 527G>A UCEC-US 14 24619440 24619440 single base substitution G A missense_variant R227Q 680G>A UCEC-US 14 24619440 24619440 single base substitution G A missense_variant R327Q 980G>A UCEC-US 14 24619440 24619440 single base substitution G A upstream_gene_variant UCEC-US 14 24619946 24619946 single base substitution G A downstream_gene_variant UCEC-US 14 24619946 24619946 single base substitution G A intron_variant UCEC-US 14 24619946 24619946 single base substitution G A missense_variant R295Q 884G>A UCEC-US 14 24619946 24619946 single base substitution G A missense_variant R346Q 1037G>A UCEC-US 14 24619946 24619946 single base substitution G A missense_variant R446Q 1337G>A UCEC-US 14 24619946 24619946 single base substitution G A upstream_gene_variant UCEC-US 14 24620062 24620062 single base substitution C T downstream_gene_variant UCEC-US 14 24620062 24620062 single base substitution C T intron_variant UCEC-US 14 24620062 24620062 single base substitution C T missense_variant R334W 1000C>T UCEC-US 14 24620062 24620062 single base substitution C T missense_variant R385W 1153C>T UCEC-US 14 24620062 24620062 single base substitution C T missense_variant R485W 1453C>T UCEC-US 14 24620062 24620062 single base substitution C T upstream_gene_variant UCEC-US 14 24620515 24620515 single base substitution G A downstream_gene_variant UCEC-US 14 24620515 24620515 single base substitution G A exon_variant UCEC-US 14 24620515 24620515 single base substitution G A intron_variant UCEC-US 14 24620515 24620515 single base substitution G A missense_variant R399Q 1196G>A UCEC-US 14 24620515 24620515 single base substitution G A missense_variant R404Q 1211G>A UCEC-US 14 24620515 24620515 single base substitution G A missense_variant R555Q 1664G>A UCEC-US 14 24620515 24620515 single base substitution G A upstream_gene_variant UCEC-US 14 24620580 24620580 single base substitution C T downstream_gene_variant UCEC-US 14 24620580 24620580 single base substitution C T exon_variant UCEC-US 14 24620580 24620580 single base substitution C T intron_variant UCEC-US 14 24620580 24620580 single base substitution C T stop_gained R421* 1261C>T UCEC-US 14 24620580 24620580 single base substitution C T stop_gained R426* 1276C>T UCEC-US 14 24620580 24620580 single base substitution C T stop_gained R577* 1729C>T UCEC-US 14 24620580 24620580 single base substitution C T upstream_gene_variant UCEC-US 14 24620710 24620710 single base substitution C T downstream_gene_variant UCEC-US 14 24620710 24620710 single base substitution C T exon_variant UCEC-US 14 24620710 24620710 single base substitution C T intron_variant UCEC-US 14 24620710 24620710 single base substitution C T missense_variant S429F 1286C>T UCEC-US 14 24620710 24620710 single base substitution C T missense_variant S434F 1301C>T UCEC-US 14 24620710 24620710 single base substitution C T missense_variant S585F 1754C>T UCEC-US 14 24620710 24620710 single base substitution C T upstream_gene_variant UCEC-US 14 24621133 24621133 single base substitution C T 3_prime_UTR_variant UCEC-US 14 24621133 24621133 single base substitution C T downstream_gene_variant UCEC-US 14 24621133 24621133 single base substitution C T exon_variant UCEC-US 14 24621133 24621133 single base substitution C T missense_variant R532W 1594C>T UCEC-US 14 24621133 24621133 single base substitution C T missense_variant R537W 1609C>T UCEC-US 14 24621133 24621133 single base substitution C T missense_variant R688W 2062C>T UCEC-US 14 24621133 24621133 single base substitution C T upstream_gene_variant UCEC-US 14 24624467 24624467 single base substitution C T 3_prime_UTR_variant UCEC-US 14 24624467 24624467 single base substitution C T downstream_gene_variant UCEC-US 14 24624467 24624467 single base substitution C T exon_variant UCEC-US 14 24624467 24624467 single base substitution C T synonymous_variant C34C 102C>T UCEC-US 14 24624467 24624467 single base substitution C T synonymous_variant C588C 1764C>T UCEC-US 14 24624467 24624467 single base substitution C T synonymous_variant C593C 1779C>T UCEC-US 14 24624467 24624467 single base substitution C T synonymous_variant C744C 2232C>T UCEC-US 14 24624467 24624467 single base substitution C T upstream_gene_variant UCEC-US 14 24624626 24624626 single base substitution C T 3_prime_UTR_variant UCEC-US 14 24624626 24624626 single base substitution C T exon_variant UCEC-US 14 24624626 24624626 single base substitution C T missense_variant R60C 178C>T UCEC-US 14 24624626 24624626 single base substitution C T missense_variant R614C 1840C>T UCEC-US 14 24624626 24624626 single base substitution C T missense_variant R619C 1855C>T UCEC-US 14 24624626 24624626 single base substitution C T missense_variant R770C 2308C>T UCEC-US 14 24624626 24624626 single base substitution C T upstream_gene_variant UCEC-US 14 24624677 24624677 single base substitution G A 3_prime_UTR_variant UCEC-US 14 24624677 24624677 single base substitution G A exon_variant UCEC-US 14 24624677 24624677 single base substitution G A missense_variant E631K 1891G>A UCEC-US 14 24624677 24624677 single base substitution G A missense_variant E636K 1906G>A UCEC-US 14 24624677 24624677 single base substitution G A missense_variant E77K 229G>A UCEC-US 14 24624677 24624677 single base substitution G A missense_variant E787K 2359G>A UCEC-US 14 24624677 24624677 single base substitution G A upstream_gene_variant UCEC-US 14 24624842 24624842 single base substitution C T 3_prime_UTR_variant UCEC-US 14 24624842 24624842 single base substitution C T exon_variant UCEC-US 14 24624842 24624842 single base substitution C T stop_gained Q102* 304C>T UCEC-US 14 24624842 24624842 single base substitution C T stop_gained Q656* 1966C>T UCEC-US 14 24624842 24624842 single base substitution C T stop_gained Q661* 1981C>T UCEC-US 14 24624842 24624842 single base substitution C T stop_gained Q812* 2434C>T UCEC-US 14 24624842 24624842 single base substitution C T upstream_gene_variant UCEC-US 14 24626750 24626750 single base substitution C T 3_prime_UTR_variant UCEC-US 14 24626750 24626750 single base substitution C T downstream_gene_variant UCEC-US 14 24626750 24626750 single base substitution C T exon_variant UCEC-US 14 24626750 24626750 single base substitution C T missense_variant S721L 2162C>T UCEC-US 14 24626750 24626750 single base substitution C T missense_variant S726L 2177C>T UCEC-US 14 24626750 24626750 single base substitution C T missense_variant S7L 20C>T UCEC-US 14 24626750 24626750 single base substitution C T missense_variant S877L 2630C>T UCEC-US 14 24626750 24626750 single base substitution C T upstream_gene_variant UCEC-US 14 24627149 24627149 single base substitution G A 3_prime_UTR_variant UCEC-US 14 24627149 24627149 single base substitution G A downstream_gene_variant UCEC-US 14 24627149 24627149 single base substitution G A exon_variant UCEC-US 14 24627149 24627149 single base substitution G A intron_variant UCEC-US 14 24627149 24627149 single base substitution G A missense_variant G768S 2302G>A UCEC-US 14 24627149 24627149 single base substitution G A missense_variant G773S 2317G>A UCEC-US 14 24627149 24627149 single base substitution G A missense_variant G924S 2770G>A UCEC-US 14 24627149 24627149 single base substitution G A upstream_gene_variant UCEC-US 14 24627349 24627349 single base substitution A T downstream_gene_variant UCEC-US 14 24627349 24627349 single base substitution A T intron_variant UCEC-US 14 24627349 24627349 single base substitution A T splice_acceptor_variant UCEC-US 14 24627349 24627349 single base substitution A T upstream_gene_variant UCEC-US 14 24627352 24627352 single base substitution A T downstream_gene_variant UCEC-US 14 24627352 24627352 single base substitution A T intron_variant UCEC-US 14 24627352 24627352 single base substitution A T missense_variant D40V 119A>T UCEC-US 14 24627352 24627352 single base substitution A T missense_variant D792V 2375A>T UCEC-US 14 24627352 24627352 single base substitution A T missense_variant D797V 2390A>T UCEC-US 14 24627352 24627352 single base substitution A T missense_variant D948V 2843A>T UCEC-US 14 24627352 24627352 single base substitution A T splice_region_variant UCEC-US 14 24627352 24627352 single base substitution A T upstream_gene_variant UCEC-US 14 24629074 24629074 single base substitution C T downstream_gene_variant UCEC-US 14 24629074 24629074 single base substitution C T exon_variant UCEC-US 14 24629074 24629074 single base substitution C T intron_variant UCEC-US 14 24629074 24629074 single base substitution C T splice_region_variant UCEC-US 14 24629074 24629074 single base substitution C T upstream_gene_variant UCEC-US 14 24629122 24629122 single base substitution C T 3_prime_UTR_variant UCEC-US 14 24629122 24629122 single base substitution C T downstream_gene_variant UCEC-US 14 24629122 24629122 single base substitution C T exon_variant UCEC-US 14 24629122 24629122 single base substitution C T intron_variant UCEC-US 14 24629122 24629122 single base substitution C T synonymous_variant D75D 225C>T UCEC-US 14 24629122 24629122 single base substitution C T synonymous_variant D827D 2481C>T UCEC-US 14 24629122 24629122 single base substitution C T synonymous_variant D832D 2496C>T UCEC-US 14 24629122 24629122 single base substitution C T synonymous_variant D983D 2949C>T UCEC-US 14 24629122 24629122 single base substitution C T upstream_gene_variant UCEC-US 14 24629123 24629123 single base substitution G T 3_prime_UTR_variant UCEC-US 14 24629123 24629123 single base substitution G T downstream_gene_variant UCEC-US 14 24629123 24629123 single base substitution G T exon_variant UCEC-US 14 24629123 24629123 single base substitution G T intron_variant UCEC-US 14 24629123 24629123 single base substitution G T stop_gained E76* 226G>T UCEC-US 14 24629123 24629123 single base substitution G T stop_gained E828* 2482G>T UCEC-US 14 24629123 24629123 single base substitution G T stop_gained E833* 2497G>T UCEC-US 14 24629123 24629123 single base substitution G T stop_gained E984* 2950G>T UCEC-US 14 24629123 24629123 single base substitution G T upstream_gene_variant UCEC-US 14 24629127 24629127 single base substitution C T 3_prime_UTR_variant UCEC-US 14 24629127 24629127 single base substitution C T downstream_gene_variant UCEC-US 14 24629127 24629127 single base substitution C T exon_variant UCEC-US 14 24629127 24629127 single base substitution C T intron_variant UCEC-US 14 24629127 24629127 single base substitution C T missense_variant A77V 230C>T UCEC-US 14 24629127 24629127 single base substitution C T missense_variant A829V 2486C>T UCEC-US 14 24629127 24629127 single base substitution C T missense_variant A834V 2501C>T UCEC-US 14 24629127 24629127 single base substitution C T missense_variant A985V 2954C>T UCEC-US 14 24629127 24629127 single base substitution C T upstream_gene_variant UCEC-US 14 24631382 24631382 single base substitution G A downstream_gene_variant UCEC-US 14 24632289 24632289 single base substitution G A downstream_gene_variant UCEC-US 14 24632351 24632351 single base substitution C T downstream_gene_variant UCEC-US 14 24633100 24633100 single base substitution C T downstream_gene_variant UCEC-US 14 24633981 24633981 single base substitution C T downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand HCC54T COSM1607548 c.1701A>G p.E567E Substitution - coding silent 14:24151343-24151343 + J30_T COSM3955943 c.192+5G>T p.? Unknown 14:24147895-24147895 + 61 COSM5740052 c.2063G>A p.R688Q Substitution - Missense 14:24151925-24151925 + PT23_2 COSM5903867 c.2997-5C>T p.? Unknown 14:24160234-24160234 + CSCC-44-T COSM4506890 c.732C>T p.F244F Substitution - coding silent 14:24149506-24149506 + BRC51 COSM5027830 c.2193C>T p.T731T Substitution - coding silent 14:24155219-24155219 + SC_9093 COSM5563341 c.513G>A p.Q171Q Substitution - coding silent 14:24148659-24148659 + TCGA-B5-A11E-01 COSM954912 c.1729C>T p.R577* Substitution - Nonsense 14:24151371-24151371 + HCT8 COSM2032620 c.324G>T p.T108T Substitution - coding silent 14:24148107-24148107 + TCGA-AC-A23H-01 COSM3814601 c.2642C>T p.A881V Substitution - Missense 14:24157553-24157553 + 08-067 COSM305474 c.768G>C p.Q256H Substitution - Missense 14:24149542-24149542 + TCGA-GM-A2DD-01 COSM3814599 c.171C>T p.V57V Substitution - coding silent 14:24147869-24147869 + TCGA-CG-5723-01 COSM4050182 c.466C>A p.L156I Substitution - Missense 14:24148384-24148384 + TCGA-D1-A0ZO-01 COSM954920 c.2770G>A p.G924S Substitution - Missense 14:24157940-24157940 + TCGA-B5-A11E-01 COSM954926 c.2954C>T p.A985V Substitution - Missense 14:24159918-24159918 + pfg019T COSM1640058 c.2245C>T p.R749C Substitution - Missense 14:24155271-24155271 + TCGA-CG-5726-01 COSM4050186 c.1669G>T p.A557S Substitution - Missense 14:24151311-24151311 + C135 COSM4617514 c.2681G>A p.R894H Substitution - Missense 14:24157592-24157592 + TCGA-KK-A5A1-01 COSM4391961 c.470G>A p.R157Q Substitution - Missense 14:24148388-24148388 + TCGA-AX-A05Z-01 COSM954925 c.2950G>T p.E984* Substitution - Nonsense 14:24159914-24159914 + HCC25T COSM1607547 c.1079delC p.F361fs*131 Deletion - Frameshift 14:24150330-24150330 + TCGA-DK-A1AC-01 COSM1300531 c.453G>A p.L151L Substitution - coding silent 14:24148371-24148371 + TCGA-BQ-7051-01 COSM3987600 c.2545C>T p.R849C Substitution - Missense 14:24157341-24157341 + LUAD-NYU408 COSM374165 c.1759G>T p.G587C Substitution - Missense 14:24151506-24151506 + TCGA-A5-A0GP-01 COSM954913 c.1754C>T p.S585F Substitution - Missense 14:24151501-24151501 + TCGA-HU-A4GU-01 COSM2032676 c.2634C>T p.Y878Y Substitution - coding silent 14:24157545-24157545 + TCGA-AP-A0LM-01 COSM954919 c.2630C>T p.S877L Substitution - Missense 14:24157541-24157541 + pfg008T COSM1640057 c.340-1delG p.? Unknown 14:24148257-24148257 + SNU-175 COSM2032665 c.2078G>A p.R693H Substitution - Missense 14:24151940-24151940 + 48T COSM3711484 c.317G>T p.R106L Substitution - Missense 14:24148100-24148100 + TCGA-A6-3809-01 COSM5086773 c.1826T>G p.L609R Substitution - Missense 14:24151573-24151573 + 4_RESISTANT COSM1724258 c.2856G>T p.M952I Substitution - Missense 14:24158156-24158156 + CSCC-11-T COSM4507867 c.759C>T p.H253H Substitution - coding silent 14:24149533-24149533 + OSCC-GB_00770111 COSM4883947 c.2667C>G p.H889Q Substitution - Missense 14:24157578-24157578 + 35M COSM5582383 c.1022G>A p.G341E Substitution - Missense 14:24150273-24150273 + S00836 COSM314860 c.563A>G p.Q188R Substitution - Missense 14:24148808-24148808 + TCGA-37-4133-01 COSM698108 c.1249C>A p.H417N Substitution - Missense 14:24150649-24150649 + TCGA-EE-A3J5-06 COSM3495362 c.2893C>T p.P965S Substitution - Missense 14:24158193-24158193 + 12M COSM5577711 c.505C>T p.P169S Substitution - Missense 14:24148651-24148651 + TCGA-AA-3663-01 COSM1369301 c.1366delC p.K458fs*34 Deletion - Frameshift 14:24150766-24150766 + S01020 COSM5664915 c.721G>T p.D241Y Substitution - Missense 14:24149495-24149495 + 4_PRE-TREATMENT COSM1724258 c.2856G>T p.M952I Substitution - Missense 14:24158156-24158156 + TCGA-FS-A1ZZ-06 COSM3495358 c.1649C>T p.S550F Substitution - Missense 14:24151291-24151291 + BD239T COSM5497247 c.1036G>T p.E346* Substitution - Nonsense 14:24150287-24150287 + TCGA-B9-4114-01 COSM3987599 c.221C>G p.T74R Substitution - Missense 14:24148004-24148004 + CSCC-31-T COSM4526830 c.1421G>A p.G474E Substitution - Missense 14:24150821-24150821 + P08-2516 COSM247081 c.290G>T p.G97V Substitution - Missense 14:24148073-24148073 + RK280_C01 COSM4944297 c.2779C>T p.P927S Substitution - Missense 14:24157949-24157949 + B89-4 COSM1748777 c.881C>A p.S294Y Substitution - Missense 14:24150132-24150132 + TCGA-04-1356-01 COSM72462 c.1192C>A p.L398I Substitution - Missense 14:24150443-24150443 + TCGA-D5-5538-01 COSM5161367 c.1448A>G p.K483R Substitution - Missense 14:24150848-24150848 + CSCC-20-T COSM4518883 c.848_849CC>TT p.S283F Substitution - Missense 14:24150099-24150100 + ME043T COSM228607 c.2344C>T p.H782Y Substitution - Missense 14:24155453-24155453 + CSCC-31-T COSM4516404 c.1897_1898CC>TT p.P633F Substitution - Missense 14:24151644-24151645 + HCT8 COSM4633890 c.791G>A p.G264D Substitution - Missense 14:24149565-24149565 + Pat_76_A COSM5847914 c.1471C>A p.L491I Substitution - Missense 14:24150871-24150871 + TCGA-EE-A2GB-06 COSM3495353 c.747C>T p.S249S Substitution - coding silent 14:24149521-24149521 + TCGA-EJ-7781-01 COSM1470667 c.628C>A p.P210T Substitution - Missense 14:24148873-24148873 + TCGA-A6-2686-01 COSM1369299 c.1200delG p.D402fs*90 Deletion - Frameshift 14:24150600-24150600 + TCGA-DB-A4XH-01 COSM3968756 c.981A>T p.R327R Substitution - coding silent 14:24150232-24150232 + TCGA-AP-A0LM-01 COSM954905 c.736G>T p.G246* Substitution - Nonsense 14:24149510-24149510 + LUAD-NYU1101 COSM369270 c.1743G>T p.Q581H Substitution - Missense 14:24151490-24151490 + 721LT COSM4382507 c.1058G>A p.R353Q Substitution - Missense 14:24150309-24150309 + CSCC-46-T COSM4528161 c.1516G>C p.E506Q Substitution - Missense 14:24151158-24151158 + DLD1 COSM2032632 c.867C>T p.D289D Substitution - coding silent 14:24150118-24150118 + 3206A7_017_T COSM5039498 c.1216G>A p.A406T Substitution - Missense 14:24150616-24150616 + SCC-9 COSM2032682 c.2936A>G p.N979S Substitution - Missense 14:24159900-24159900 + 3N43-VS-3T43 COSM4982020 c.2833C>A p.L945M Substitution - Missense 14:24158003-24158003 + CSCC-20-T COSM4484397 c.2803C>T p.R935W Substitution - Missense 14:24157973-24157973 + PT52 COSM5940471 c.1300C>T p.R434W Substitution - Missense 14:24150700-24150700 + TCGA-BS-A0UV-01 COSM954908 c.980G>A p.R327Q Substitution - Missense 14:24150231-24150231 + HCC004T COSM5803319 c.2243G>T p.G748V Substitution - Missense 14:24155269-24155269 + DLD1 COSM2032620 c.324G>T p.T108T Substitution - coding silent 14:24148107-24148107 + TCGA-AA-A010-01 COSM299473 c.2901C>A p.G967G Substitution - coding silent 14:24159865-24159865 + 16461 COSM5614106 c.1820G>T p.R607L Substitution - Missense 14:24151567-24151567 + LS180 COSM2032630 c.764G>A p.R255H Substitution - Missense 14:24149538-24149538 + cSCCP5 COSM138048 c.2147C>T p.S716F Substitution - Missense 14:24155173-24155173 + TCGA-AP-A051-01 COSM954909 c.1337G>A p.R446Q Substitution - Missense 14:24150737-24150737 + TCGA-CD-8535-01 COSM4050181 c.263G>A p.S88N Substitution - Missense 14:24148046-24148046 + 1517_CLM COSM5754566 c.496-1G>T p.? Unknown 14:24148641-24148641 + HCT8 COSM2032632 c.867C>T p.D289D Substitution - coding silent 14:24150118-24150118 + HCC171 COSM3706222 c.646C>T p.P216S Substitution - Missense 14:24149420-24149420 + TCGA-18-3411-01 COSM698109 c.580C>G p.P194A Substitution - Missense 14:24148825-24148825 + TCGA-E2-A1IH-01 COSM1477499 c.1231C>G p.Q411E Substitution - Missense 14:24150631-24150631 + TCGA-AM-5821-01 COSM3690042 c.2516G>A p.R839Q Substitution - Missense 14:24157312-24157312 + TCGA-DB-A4XH-01 COSM3968755 c.980G>T p.R327L Substitution - Missense 14:24150231-24150231 + tumor_4163639 COSM1161108 c.692C>T p.S231F Substitution - Missense 14:24149466-24149466 + LUAD_E00522 COSM352516 c.3127G>T p.G1043* Substitution - Nonsense 14:24160369-24160369 + SA071 COSM214181 c.2735C>G p.P912R Substitution - Missense 14:24157905-24157905 + TCGA-B5-A0JY-01 COSM954916 c.2308C>T p.R770C Substitution - Missense 14:24155417-24155417 + TCGA-EE-A2MR-06 COSM3495355 c.1318C>T p.P440S Substitution - Missense 14:24150718-24150718 + TCGA-ER-A19Q-06 COSM3495359 c.1681C>T p.R561C Substitution - Missense 14:24151323-24151323 + I2L-P19Ta-Tumor-Biopsy COSM1223995 c.1846C>T p.R616C Substitution - Missense 14:24151593-24151593 + TCGA-C5-A3HE-01 COSM4827930 c.2724G>C p.K908N Substitution - Missense 14:24157635-24157635 + PD4120a COSM164063 c.3171G>C p.L1057L Substitution - coding silent 14:24160525-24160525 + S01022 COSM2032661 c.1917C>T p.D639D Substitution - coding silent 14:24151664-24151664 + TCGA-G2-A3VY-01 COSM3793608 c.1429G>A p.E477K Substitution - Missense 14:24150829-24150829 + CSCC-49-T COSM4487557 c.3201C>T p.I1067I Substitution - coding silent 14:24160555-24160555 + 4_PRE-TREATMENT COSM1724257 c.2408C>T p.S803F Substitution - Missense 14:24155607-24155607 + GC1_T COSM3748579 c.598G>T p.A200S Substitution - Missense 14:24148843-24148843 + BD124T COSM5493149 c.951A>G p.A317A Substitution - coding silent 14:24150202-24150202 + BD114T COSM5504030 c.2351A>T p.K784M Substitution - Missense 14:24155460-24155460 + CSCC-7-T COSM4563224 c.963G>A p.V321V Substitution - coding silent 14:24150214-24150214 + I2L-P19Ta-Tumor-Organoid COSM1223995 c.1846C>T p.R616C Substitution - Missense 14:24151593-24151593 + CSCC-16-T COSM4466095 c.1416C>T p.S472S Substitution - coding silent 14:24150816-24150816 + 2178 COSM5017189 c.3097T>C p.Y1033H Substitution - Missense 14:24160339-24160339 + TCGA-ES-A2HT-01 COSM4938539 c.1477A>G p.S493G Substitution - Missense 14:24150877-24150877 + TCGA-D1-A167-01 COSM954910 c.1453C>T p.R485W Substitution - Missense 14:24150853-24150853 + EGC15 COSM5053885 c.2310C>T p.R770R Substitution - coding silent 14:24155419-24155419 + TCGA-A3-3320-01 COSM1493248 c.2985C>T p.A995A Substitution - coding silent 14:24159949-24159949 + TCGA-DK-A3IU-01 COSM3793605 c.547G>A p.E183K Substitution - Missense 14:24148693-24148693 + TCGA-EE-A3J5-06 COSM3495357 c.1371C>T p.P457P Substitution - coding silent 14:24150771-24150771 + TCGA-D8-A3Z6-01 COSM954910 c.1453C>T p.R485W Substitution - Missense 14:24150853-24150853 + B89-4-Tumor COSM1748777 c.881C>A p.S294Y Substitution - Missense 14:24150132-24150132 + tumor_4110378 COSM5946493 c.340-4G>A p.? Unknown 14:24148254-24148254 + HCC078T COSM5806444 c.1388G>C p.R463P Substitution - Missense 14:24150788-24150788 + TCGA-37-5819-01 COSM698107 c.2237C>T p.A746V Substitution - Missense 14:24155263-24155263 + TCGA-B5-A0K4-01 COSM954914 c.2062C>T p.R688W Substitution - Missense 14:24151924-24151924 + TCGA-BR-4201-01 COSM954914 c.2062C>T p.R688W Substitution - Missense 14:24151924-24151924 + RKO COSM2032626 c.603T>C p.P201P Substitution - coding silent 14:24148848-24148848 + TCGA-D1-A17C-01 COSM954918 c.2434C>T p.Q812* Substitution - Nonsense 14:24155633-24155633 + RK308_C01 COSM3744279 c.763C>T p.R255C Substitution - Missense 14:24149537-24149537 + CSCC-27-T COSM4466082 c.1415C>T p.S472F Substitution - Missense 14:24150815-24150815 + S01578 COSM5670317 c.515A>T p.Q172L Substitution - Missense 14:24148661-24148661 + TCGA-CM-5860-01 COSM5157558 c.2645G>A p.R882Q Substitution - Missense 14:24157556-24157556 + TCGA-FI-A2EX-01 COSM954917 c.2359G>A p.E787K Substitution - Missense 14:24155468-24155468 + TCGA-BR-8589-01 COSM4050190 c.2729A>T p.K910I Substitution - Missense 14:24157899-24157899 + TCGA-G2-A3VY-01 COSM3793606 c.1009G>A p.E337K Substitution - Missense 14:24150260-24150260 + HCT15 COSM2032620 c.324G>T p.T108T Substitution - coding silent 14:24148107-24148107 + TCGA-ER-A19O-06 COSM3495361 c.2453C>T p.P818L Substitution - Missense 14:24155652-24155652 + TCGA-G4-6628-01 COSM5180049 c.1489-6C>T p.? Unknown 14:24151125-24151125 + TCGA-EE-A29D-06 COSM3495352 c.648C>T p.P216P Substitution - coding silent 14:24149422-24149422 + HCT15 COSM2032651 c.1574G>A p.R525H Substitution - Missense 14:24151216-24151216 + CLL095 COSM1290278 c.2872C>T p.P958S Substitution - Missense 14:24158172-24158172 + ESO-164 COSM1264397 c.1972C>T p.R658W Substitution - Missense 14:24151834-24151834 + 8014964 COSM3386492 c.2403+7G>A p.? Unknown 14:24155519-24155519 + ZZUFHECRKL-G014T COSM5437436 c.588G>A p.L196L Substitution - coding silent 14:24148833-24148833 + TCGA-BR-8690-01 COSM4050188 c.2349G>C p.K783N Substitution - Missense 14:24155458-24155458 + TCGA-CG-4442-01 COSM2032638 c.1240T>C p.Y414H Substitution - Missense 14:24150640-24150640 + 587234 COSM1223995 c.1846C>T p.R616C Substitution - Missense 14:24151593-24151593 + TCGA-AP-A059-01 COSM954922 c.2843A>T p.D948V Substitution - Missense 14:24158143-24158143 + Au4 COSM2032634 c.1113C>T p.S371S Substitution - coding silent 14:24150364-24150364 + OSCC-GB_00850111 COSM4891437 c.2750G>A p.R917K Substitution - Missense 14:24157920-24157920 + TCGA-AD-6889-01 COSM1369299 c.1200delG p.D402fs*90 Deletion - Frameshift 14:24150600-24150600 + TCGA-EE-A29A-06 COSM3495360 c.1843C>T p.Q615* Substitution - Nonsense 14:24151590-24151590 + 16461 COSM5616775 c.1821G>T p.R607R Substitution - coding silent 14:24151568-24151568 + TCGA-AA-A01P-01 COSM5122050 c.3165+9T>A p.? Unknown 14:24160416-24160416 + 234 COSM3730523 c.450A>G p.T150T Substitution - coding silent 14:24148368-24148368 + T3118 COSM1369299 c.1200delG p.D402fs*90 Deletion - Frameshift 14:24150600-24150600 + TCGA-DD-A4NI-01 COSM4926147 c.710G>T p.C237F Substitution - Missense 14:24149484-24149484 + CSCC-31-T COSM4474202 c.1901C>T p.S634F Substitution - Missense 14:24151648-24151648 + 1517_PT COSM5754566 c.496-1G>T p.? Unknown 14:24148641-24148641 + HCT15 COSM2032631 c.795C>A p.T265T Substitution - coding silent 14:24149569-24149569 + TCGA-BS-A0UV-01 COSM954911 c.1664G>A p.R555Q Substitution - Missense 14:24151306-24151306 + TCGA-AF-3914-01 COSM5065485 c.2347_2494-702>GA p.? Unknown 14:24155456-24156588 + KPOPBR-49-T COSM5963435 c.1771G>A p.E591K Substitution - Missense 14:24151518-24151518 + TCGA-D5-6928-01 COSM1369304 c.2682C>T p.R894R Substitution - coding silent 14:24157593-24157593 + TCGA-B0-5705-01 COSM469847 c.360A>G p.R120R Substitution - coding silent 14:24148278-24148278 + TCGA-AG-A002-01 COSM263381 c.2712C>A p.A904A Substitution - coding silent 14:24157623-24157623 + TCGA-G4-6628-01 COSM1369302 c.2510G>A p.R837Q Substitution - Missense 14:24157306-24157306 + B66-Tumor COSM3931915 c.3150G>T p.Q1050H Substitution - Missense 14:24160392-24160392 + TCGA-D5-6920-01 COSM1369296 c.405C>T p.P135P Substitution - coding silent 14:24148323-24148323 + TCGA-BH-A0B6-01 COSM3814600 c.268C>T p.Q90* Substitution - Nonsense 14:24148051-24148051 + CSCC-10-T COSM4466095 c.1416C>T p.S472S Substitution - coding silent 14:24150816-24150816 + TCGA-BT-A2LA-01 COSM1300532 c.2355G>A p.L785L Substitution - coding silent 14:24155464-24155464 + 25T COSM3711485 c.502C>T p.H168Y Substitution - Missense 14:24148648-24148648 + T263 COSM4722179 c.291T>C p.G97G Substitution - coding silent 14:24148074-24148074 + T2197 COSM1369299 c.1200delG p.D402fs*90 Deletion - Frameshift 14:24150600-24150600 + CSCC-55-T COSM4555035 c.63G>A p.L21L Substitution - coding silent 14:24147761-24147761 + TCGA-HT-8564-01 COSM3968757 c.3206G>A p.R1069H Substitution - Missense 14:24160560-24160560 + CSCC-44-T COSM4482548 c.261C>T p.L87L Substitution - coding silent 14:24148044-24148044 + 1N46-VS-1T46 COSM4976028 c.2184G>A p.Q728Q Substitution - coding silent 14:24155210-24155210 + pfg008T COSM1640057 c.340-1delG p.? Unknown 14:24148257-24148257 + TCGA-41-4097-01 COSM3401254 c.1800G>C p.Q600H Substitution - Missense 14:24151547-24151547 + TCGA-D5-6530-01 COSM1369301 c.1366delC p.K458fs*34 Deletion - Frameshift 14:24150766-24150766 + TCGA-AP-A056-01 COSM954904 c.326T>C p.V109A Substitution - Missense 14:24148109-24148109 + DLD1 COSM2032651 c.1574G>A p.R525H Substitution - Missense 14:24151216-24151216 + 388 COSM3723397 c.495+2T>A p.? Unknown 14:24148415-24148415 + OSCC-GB_00480111 COSM3711484 c.317G>T p.R106L Substitution - Missense 14:24148100-24148100 + TCGA-AP-A059-01 COSM954907 c.870C>T p.S290S Substitution - coding silent 14:24150121-24150121 + Pat_63_B COSM5847915 c.1960C>T p.P654S Substitution - Missense 14:24151822-24151822 + HCC171T COSM3706222 c.646C>T p.P216S Substitution - Missense 14:24149420-24149420 + HCC54 COSM1607548 c.1701A>G p.E567E Substitution - coding silent 14:24151343-24151343 + LUAD-B02216 COSM335388 c.861G>C p.L287L Substitution - coding silent 14:24150112-24150112 + pfg166T COSM4751349 c.808A>G p.S270G Substitution - Missense 14:24149582-24149582 + HT115 COSM2032679 c.2714T>G p.F905C Substitution - Missense 14:24157625-24157625 + 3N02-VS-3T02 COSM4978434 c.1500C>T p.A500A Substitution - coding silent 14:24151142-24151142 + P06-3676 COSM247080 c.2686C>T p.Q896* Substitution - Nonsense 14:24157597-24157597 + 4_RESISTANT COSM1724257 c.2408C>T p.S803F Substitution - Missense 14:24155607-24155607 + TCGA-F4-6570-01 COSM1369300 c.1301G>A p.R434Q Substitution - Missense 14:24150701-24150701 + P09-1372 COSM247079 c.1031G>A p.G344D Substitution - Missense 14:24150282-24150282 + ESCC-204T COSM3936486 c.1007C>G p.T336S Substitution - Missense 14:24150258-24150258 + TCGA-C5-A1BE-01 COSM3793606 c.1009G>A p.E337K Substitution - Missense 14:24150260-24150260 + TCGA-B0-5098-01 COSM1493249 c.1105C>T p.L369L Substitution - coding silent 14:24150356-24150356 + 587376 COSM1223996 c.1861C>T p.R621C Substitution - Missense 14:24151608-24151608 + TCGA-NH-A5IV-01 COSM1369299 c.1200delG p.D402fs*90 Deletion - Frameshift 14:24150600-24150600 + Pat_41_B COSM5582383 c.1022G>A p.G341E Substitution - Missense 14:24150273-24150273 + WA48 COSM241442 c.2635G>A p.A879T Substitution - Missense 14:24157546-24157546 + PT35 COSM5913611 c.1352C>T p.S451F Substitution - Missense 14:24150752-24150752 + TCGA-85-6560-01 COSM698105 c.2671A>T p.T891S Substitution - Missense 14:24157582-24157582 + 44T COSM3711486 c.2101G>T p.V701L Substitution - Missense 14:24151963-24151963 + TCGA-HF-7132-01 COSM4050189 c.2569G>A p.A857T Substitution - Missense 14:24157365-24157365 + TARGET-30-PASEGA COSM1287667 c.2263G>T p.D755Y Substitution - Missense 14:24155289-24155289 + TCGA-32-1970-01 COSM3401255 c.2762C>A p.S921Y Substitution - Missense 14:24157932-24157932 + 8050103 COSM3386491 c.620C>T p.P207L Substitution - Missense 14:24148865-24148865 + OSCC-GB_00250111 COSM3711485 c.502C>T p.H168Y Substitution - Missense 14:24148648-24148648 + TCGA-AA-3663-01 COSM3690041 c.620C>A p.P207H Substitution - Missense 14:24148865-24148865 + TCGA-AA-3672-01 COSM292810 c.1954G>A p.A652T Substitution - Missense 14:24151816-24151816 + ESCC_BICR_049T COSM5433324 c.454G>A p.E152K Substitution - Missense 14:24148372-24148372 + TCGA-BR-4184-01 COSM4050183 c.748C>T p.R250C Substitution - Missense 14:24149522-24149522 + TCGA-BR-8360-01 COSM4050184 c.1388G>A p.R463Q Substitution - Missense 14:24150788-24150788 + TCGA-F4-6856-01 COSM1369303 c.2590C>T p.L864F Substitution - Missense 14:24157386-24157386 + LUAD-RT-S01813 COSM383131 c.1012G>T p.G338C Substitution - Missense 14:24150263-24150263 + TCGA-AX-A0J1-01 COSM954915 c.2232C>T p.C744C Substitution - coding silent 14:24155258-24155258 + RK282_C01 COSM4964062 c.1147A>G p.S383G Substitution - Missense 14:24150398-24150398 + T3658 COSM4722180 c.2921_2923delAGA p.K975delK Deletion - In frame 14:24159885-24159887 + 435 COSM4433810 c.523G>C p.E175Q Substitution - Missense 14:24148669-24148669 + TCGA-BR-4184-01 COSM4050187 c.1820G>A p.R607Q Substitution - Missense 14:24151567-24151567 + LC_C9 COSM1188781 c.3050C>A p.P1017Q Substitution - Missense 14:24160292-24160292 + TCGA-G2-A3VY-01 COSM3793607 c.1134G>A p.L378L Substitution - coding silent 14:24150385-24150385 + TCGA-AP-A059-01 COSM954923 c.2901C>T p.G967G Substitution - coding silent 14:24159865-24159865 + PT35 COSM5913610 c.2859T>A p.F953L Substitution - Missense 14:24158159-24158159 + TCGA-22-5489-01 COSM698106 c.2554G>T p.D852Y Substitution - Missense 14:24157350-24157350 + SC_9003 COSM5566141 c.1390C>T p.R464C Substitution - Missense 14:24150790-24150790 + C0021T COSM4150757 c.1424A>T p.D475V Substitution - Missense 14:24150824-24150824 + TCGA-ER-A2NH-06 COSM3495356 c.1332C>T p.A444A Substitution - coding silent 14:24150732-24150732 + S01542 COSM5669553 c.347G>T p.R116L Substitution - Missense 14:24148265-24148265 + TCGA-A5-A0GV-01 COSM954903 c.289G>A p.G97S Substitution - Missense 14:24148072-24148072 + TCGA-CD-A4MG-01 COSM4050185 c.1607C>T p.A536V Substitution - Missense 14:24151249-24151249 + NB-1246 COSM1287668 c.2398G>T p.A800S Substitution - Missense 14:24155507-24155507 + TCGA-B5-A11E-01 COSM954906 c.843G>A p.S281S Substitution - coding silent 14:24150094-24150094 + TCGA-AA-3949-01 COSM296949 c.3201delC p.R1069fs*>4 Deletion - Frameshift 14:24160555-24160555 + ESO-1145 COSM1264396 c.787C>A p.Q263K Substitution - Missense 14:24149561-24149561 + OSCC-GB_00440111 COSM3711486 c.2101G>T p.V701L Substitution - Missense 14:24151963-24151963 + TCGA-D9-A6EC-06 COSM4400252 c.1384C>T p.P462S Substitution - Missense 14:24150784-24150784 + CSCC-29-T COSM4459535 c.1129C>T p.R377W Substitution - Missense 14:24150380-24150380 + ICGC_MB132 COSM3764492 c.2909G>A p.R970Q Substitution - Missense 14:24159873-24159873 + pfg122T COSM4751350 c.2929G>A p.V977I Substitution - Missense 14:24159893-24159893 + 759_T COSM3955944 c.872C>T p.S291F Substitution - Missense 14:24150123-24150123 + TCGA-DA-A1HW-06 COSM3495354 c.797A>T p.H266L Substitution - Missense 14:24149571-24149571 + 1N24-VS-1T24 COSM4433810 c.523G>C p.E175Q Substitution - Missense 14:24148669-24148669 + BD124T COSM241442 c.2635G>A p.A879T Substitution - Missense 14:24157546-24157546 + HCT15 COSM2032632 c.867C>T p.D289D Substitution - coding silent 14:24150118-24150118 + TCGA-AP-A051-01 COSM954924 c.2949C>T p.D983D Substitution - coding silent 14:24159913-24159913 + TCGA-AA-3821-01 COSM294780 c.2601C>T p.N867N Substitution - coding silent 14:24157397-24157397 + CSCC-56-T COSM4502979 c.627C>T p.V209V Substitution - coding silent 14:24148872-24148872 + T1844 COSM4722181 c.2950G>A p.E984K Substitution - Missense 14:24159914-24159914 + Mx43 COSM50617 c.1454G>A p.R485Q Substitution - Missense 14:24150854-24150854 + pfg145T COSM4751348 c.752C>A p.A251D Substitution - Missense 14:24149526-24149526 + TCGA-AX-A060-01 COSM954921 c.2842-2A>T p.? Unknown 14:24158140-24158140 + PTC_212 COSM4827930 c.2724G>C p.K908N Substitution - Missense 14:24157635-24157635 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.375217 14q11.2 612487

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.Q188R c.563A>G 14 24618017 SCLC A G Missense p.T360A c.1078A>G 14 24619538 BRCA A G Synonymous p.R120R c.360A>G 14 24617487 RCCC A T IntronicSNV . c.632-27A>T 14 24618588 CM A T Missense p.H266L c.797A>T 14 24618780 CM A T Missense p.T891S c.2671A>T 14 24626791 LUSC A T SpliceAcceptorSNV . c.2842-2A>T 14 24627349 UCEC A T Synonymous p.G602G c.1806A>T 14 24620762 LUAD C A Missense p.H417N c.1249C>A 14 24619858 LUSC C A Missense p.L398I c.1192C>A 14 24619652 OV C A Missense p.P210T c.628C>A 14 24618082 PRAD C A Missense p.Q263K c.787C>A 14 24618770 ESCA C A Missense p.S921Y c.2762C>A 14 24627141 GBM C A Synonymous p.R882R c.2644C>A 14 24626764 LUAD CC TT Missense p.R710W c.2127_2128delinsTT 14 24621198 CM C G Missense p.A554G c.1661C>G 14 24620512 LUAD C G Missense p.P194A c.580C>G 14 24618034 LUSC C G Missense p.P912R c.2735C>G 14 24627114 BRCA C G Missense p.Q411E c.1231C>G 14 24619840 BRCA C G Synonymous p.L752L c.2256C>G 14 24624491 HNSC C T IntronicSNV . c.2900-36C>T 14 24629037 CM C T Missense p.A746V c.2237C>T 14 24624472 LUSC C T Missense p.H782Y c.2344C>T 14 24624662 CM C T Missense p.P238L c.713C>T 14 24618696 CM C T Missense p.P629S c.1885C>T 14 24620841 CM C T Missense p.P818L c.2453C>T 14 24624861 CM C T Missense p.P958S c.2872C>T 14 24627381 CLL C T Missense p.P965S c.2893C>T 14 24627402 CM C T Missense p.R1037C c.3109C>T 14 24629560 HNSC C T Missense p.R561C c.1681C>T 14 24620532 CM C T Missense p.R658W c.1972C>T 14 24621043 ESCA C T Missense p.R688W c.2062C>T 14 24621133 STAD C T Missense p.R688W c.2062C>T 14 24621133 UCEC C T Missense p.R749C c.2245C>T 14 24624480 STAD C T Missense p.S231F c.692C>T 14 24618675 DLBCL C T Missense p.S550F c.1649C>T 14 24620500 CM C T Missense p.S585F c.1754C>T 14 24620710 UCEC C T Nonsense p.Q615* c.1843C>T 14 24620799 CM C T Nonsense p.Q812* c.2434C>T 14 24624842 UCEC C T Nonsense p.Q831* c.2491C>T 14 24624899 CM C T Synonymous p.A39A c.117C>T 14 24617024 CM C T Synonymous p.A444A c.1332C>T 14 24619941 CM C T Synonymous p.F781F c.2343C>T 14 24624661 CM C T Synonymous p.L285L c.853C>T 14 24619313 LUAD C T Synonymous p.P457P c.1371C>T 14 24619980 CM C T Synonymous p.S249S c.747C>T 14 24618730 CM C T Synonymous p.S655S c.1965C>T 14 24621036 LUAD C T Synonymous p.T731T c.2193C>T 14 24624428 BRCA GA - Frameshift p.N672Lfs*2 c.2013_2014delGA 14 24621084 PRAD G A IntronicSNV . c.495+47G>A 14 24617669 UCEC G A IntronicSNV . c.631+48G>A 14 24618133 CM G A Missense p.A54T c.160G>A 14 24617067 BLCA G A Missense p.E1031K c.3091G>A 14 24629542 LUAD G A Missense p.E183K c.547G>A 14 24617902 BLCA G A Missense p.E787K c.2359G>A 14 24624677 UCEC G A Missense p.G924S c.2770G>A 14 24627149 UCEC G A Missense p.G97S c.289G>A 14 24617281 UCEC G A Missense p.R157Q c.470G>A 14 24617597 PRAD G A Synonymous p.L785L c.2355G>A 14 24624673 BLCA G C Missense p.E191Q c.571G>C 14 24618025 HNSC G C Missense p.E337Q c.1009G>C 14 24619469 LUAD G C Missense p.Q263H c.789G>C 14 24618772 LUAD G C Missense p.Q600H c.1800G>C 14 24620756 GBM G C Synonymous p.L1057L c.3171G>C 14 24629734 BRCA - G Frameshift p.D402Gfs*35 c.1204dupG 14 24619809 PRAD G - IntronicDeletion . c.344delG 14 24617466 STAD G T Missense p.A557S c.1669G>T 14 24620520 STAD G T Missense p.A800S c.2398G>T 14 24624716 NB G T Missense p.D755Y c.2263G>T 14 24624498 NB G T Missense p.D852Y c.2554G>T 14 24626559 LUSC G T Missense p.R607L c.1820G>T 14 24620776 NSCLC G T Missense p.R658L c.1973G>T 14 24621044 LUAD G T Missense p.R882L c.2645G>T 14 24626765 LUAD G T Nonsense p.E136* c.406G>T 14 24617533 HNSC G T Synonymous p.R607R c.1821G>T 14 24620777 NSCLC T C Missense p.F549L c.1645T>C 14 24620496 CM T C Missense p.V918A c.2753T>C 14 24627132 MM - T IntronicInsertion . c.632-32dupT 14 24618578 STAD