Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 5 171765673 171765674 + Frame_Shift_Ins INS - - A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 g.chr5:171765673_171765674insA c.2435_2436insT c.(2434-2436)ttgfs p.L812fs BLCA 5 171765850 171765850 + Silent SNP C C T TCGA-XF-AAMQ-01A-11D-A42E-08 TCGA-XF-AAMQ-10A-01D-A42H-08 g.chr5:171765850C>T c.2259G>A c.(2257-2259)caG>caA p.Q753Q BLCA 5 171765985 171765985 + Silent SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 g.chr5:171765985G>A c.2124C>T c.(2122-2124)cgC>cgT p.R708R BLCA 5 171766725 171766725 + Missense_Mutation SNP C C T TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 g.chr5:171766725C>T c.1384G>A c.(1384-1386)Gaa>Aaa p.E462K BLCA 5 171766782 171766782 + Missense_Mutation SNP C C T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 g.chr5:171766782C>T c.1327G>A c.(1327-1329)Gag>Aag p.E443K BLCA 5 171773171 171773171 + Missense_Mutation SNP C C T TCGA-XF-A9T0-01A-11D-A391-08 TCGA-XF-A9T0-10A-01D-A394-08 g.chr5:171773171C>T c.1157G>A c.(1156-1158)gGc>gAc p.G386D BLCA 5 171773245 171773245 + Silent SNP C C T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 g.chr5:171773245C>T c.1083G>A c.(1081-1083)ccG>ccA p.P361P BLCA 5 171773245 171773245 + Silent SNP C C T TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 g.chr5:171773245C>T c.1083G>A c.(1081-1083)ccG>ccA p.P361P BLCA 5 171774337 171774337 + Splice_Site SNP C C A TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 g.chr5:171774337C>A c.e11-1 BLCA 5 171789745 171789745 + Missense_Mutation SNP C C T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 g.chr5:171789745C>T c.556G>A c.(556-558)Gag>Aag p.E186K BLCA 5 171789755 171789755 + Silent SNP G G A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr5:171789755G>A c.546C>T c.(544-546)atC>atT p.I182I BRCA 5 171765983 171765983 + Missense_Mutation SNP G G A TCGA-A8-A07C-01A-11D-A045-09 TCGA-A8-A07C-10A-01W-A055-09 g.chr5:171765983G>A c.2126C>T c.(2125-2127)gCc>gTc p.A709V BRCA 5 171766090 171766090 + Silent SNP G G C TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 g.chr5:171766090G>C c.2019C>G c.(2017-2019)gcC>gcG p.A673A BRCA 5 171766111 171766111 + Silent SNP G G A TCGA-BH-A0W7-01A-11D-A10Y-09 TCGA-BH-A0W7-10A-01D-A110-09 g.chr5:171766111G>A c.1998C>T c.(1996-1998)ctC>ctT p.L666L BRCA 5 171766138 171766138 + Silent SNP G G A TCGA-C8-A26Z-01A-11D-A16D-09 TCGA-C8-A26Z-10A-01D-A16D-09 g.chr5:171766138G>A c.1971C>T c.(1969-1971)ggC>ggT p.G657G BRCA 5 171766429 171766429 + Missense_Mutation SNP A A C TCGA-B6-A0RH-01A-21D-A10Y-09 TCGA-B6-A0RH-10A-01D-A110-09 g.chr5:171766429A>C c.1680T>G c.(1678-1680)atT>atG p.I560M BRCA 5 171766645 171766645 + Missense_Mutation SNP C C A TCGA-AN-A0XS-01A-22D-A10G-09 TCGA-AN-A0XS-10A-01D-A10G-09 g.chr5:171766645C>A c.1464G>T c.(1462-1464)tgG>tgT p.W488C BRCA 5 171774304 171774304 + Missense_Mutation SNP G G A TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr5:171774304G>A c.1045C>T c.(1045-1047)Cgc>Tgc p.R349C BRCA 5 171809077 171809077 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 g.chr5:171809077A>G c.364T>C c.(364-366)Ttt>Ctt p.F122L CESC 5 171765890 171765890 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 g.chr5:171765890G>C c.2219C>G c.(2218-2220)tCt>tGt p.S740C CESC 5 171766545 171766545 + Missense_Mutation SNP G G C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 g.chr5:171766545G>C c.1564C>G c.(1564-1566)Ctc>Gtc p.L522V CESC 5 171766800 171766800 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 g.chr5:171766800G>A c.1309C>T c.(1309-1311)Ctg>Ttg p.L437L CESC 5 171777403 171777403 + Missense_Mutation SNP C C G TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 g.chr5:171777403C>G c.976G>C c.(976-978)Gaa>Caa p.E326Q COAD 5 171765985 171765985 + Silent SNP G G A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr5:171765985G>A c.2124C>T c.(2122-2124)cgC>cgT p.R708R COAD 5 171766096 171766096 + Silent SNP C C T TCGA-G4-6293-01A-11D-1719-10 TCGA-G4-6293-10A-01D-1719-10 g.chr5:171766096C>T c.2013G>A c.(2011-2013)agG>agA p.R671R COAD 5 171766149 171766149 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr5:171766149G>A c.1960C>T c.(1960-1962)Cca>Tca p.P654S COAD 5 171766173 171766173 + Missense_Mutation SNP G G T TCGA-AA-3869-01A-01W-0995-10 TCGA-AA-3869-10A-01W-0995-10 g.chr5:171766173G>T c.1936C>A c.(1936-1938)Cca>Aca p.P646T COAD 5 171766328 171766328 + Missense_Mutation SNP A A C TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr5:171766328A>C c.1781T>G c.(1780-1782)aTg>aGg p.M594R COAD 5 171766488 171766488 + Missense_Mutation SNP G G A TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr5:171766488G>A c.1621C>T c.(1621-1623)Cgg>Tgg p.R541W COAD 5 171766787 171766787 + Missense_Mutation SNP G G A TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr5:171766787G>A c.1322C>T c.(1321-1323)cCc>cTc p.P441L COAD 5 171766905 171766905 + Silent SNP A A G TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr5:171766905A>G c.1204T>C c.(1204-1206)Ttg>Ctg p.L402L COAD 5 171773199 171773199 + Missense_Mutation SNP C C T TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr5:171773199C>T c.1129G>A c.(1129-1131)Gcc>Acc p.A377T COAD 5 171773247 171773247 + Missense_Mutation SNP G G A TCGA-AA-A00E-01A-01W-A005-10 TCGA-AA-A00E-10A-01W-A005-10 g.chr5:171773247G>A c.1081C>T c.(1081-1083)Ccg>Tcg p.P361S COAD 5 171777375 171777375 + Missense_Mutation SNP G G C TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr5:171777375G>C c.1004C>G c.(1003-1005)gCc>gGc p.A335G COAD 5 171777454 171777454 + Missense_Mutation SNP C C T TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr5:171777454C>T c.925G>A c.(925-927)Gcg>Acg p.A309T COAD 5 171777528 171777528 + Missense_Mutation SNP G G A TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr5:171777528G>A c.851C>T c.(850-852)cCc>cTc p.P284L COADREAD 5 171765783 171765783 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr5:171765783G>T c.2326C>A c.(2326-2328)Cca>Aca p.P776T COADREAD 5 171765985 171765985 + Silent SNP G G A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr5:171765985G>A c.2124C>T c.(2122-2124)cgC>cgT p.R708R COADREAD 5 171766096 171766096 + Silent SNP C C T TCGA-G4-6293-01A-11D-1719-10 TCGA-G4-6293-10A-01D-1719-10 g.chr5:171766096C>T c.2013G>A c.(2011-2013)agG>agA p.R671R COADREAD 5 171766149 171766149 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr5:171766149G>A c.1960C>T c.(1960-1962)Cca>Tca p.P654S COADREAD 5 171766173 171766173 + Missense_Mutation SNP G G T TCGA-AA-3869-01A-01W-0995-10 TCGA-AA-3869-10A-01W-0995-10 g.chr5:171766173G>T c.1936C>A c.(1936-1938)Cca>Aca p.P646T COADREAD 5 171766328 171766328 + Missense_Mutation SNP A A C TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr5:171766328A>C c.1781T>G c.(1780-1782)aTg>aGg p.M594R COADREAD 5 171766488 171766488 + Missense_Mutation SNP G G A TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr5:171766488G>A c.1621C>T c.(1621-1623)Cgg>Tgg p.R541W COADREAD 5 171766787 171766787 + Missense_Mutation SNP G G A TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr5:171766787G>A c.1322C>T c.(1321-1323)cCc>cTc p.P441L COADREAD 5 171766905 171766905 + Silent SNP A A G TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr5:171766905A>G c.1204T>C c.(1204-1206)Ttg>Ctg p.L402L COADREAD 5 171773199 171773199 + Missense_Mutation SNP C C T TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr5:171773199C>T c.1129G>A c.(1129-1131)Gcc>Acc p.A377T COADREAD 5 171773247 171773247 + Missense_Mutation SNP G G A TCGA-AA-A00E-01A-01W-A005-10 TCGA-AA-A00E-10A-01W-A005-10 g.chr5:171773247G>A c.1081C>T c.(1081-1083)Ccg>Tcg p.P361S COADREAD 5 171773255 171773255 + Missense_Mutation SNP A A G TCGA-EF-5830-01A-01D-1657-10 TCGA-EF-5830-10A-01D-1657-10 g.chr5:171773255A>G c.1073T>C c.(1072-1074)cTc>cCc p.L358P COADREAD 5 171774307 171774307 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr5:171774307G>T c.1042C>A c.(1042-1044)Cct>Act p.P348T COADREAD 5 171777375 171777375 + Missense_Mutation SNP G G C TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr5:171777375G>C c.1004C>G c.(1003-1005)gCc>gGc p.A335G COADREAD 5 171777454 171777454 + Missense_Mutation SNP C C T TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr5:171777454C>T c.925G>A c.(925-927)Gcg>Acg p.A309T COADREAD 5 171777528 171777528 + Missense_Mutation SNP G G A TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr5:171777528G>A c.851C>T c.(850-852)cCc>cTc p.P284L DLBC 5 171766135 171766135 + Missense_Mutation SNP T T G TCGA-GR-7351-01A-11D-2210-10 TCGA-GR-7351-10A-01D-2210-10 g.chr5:171766135T>G c.1974A>C c.(1972-1974)gaA>gaC p.E658D ESCA 5 171809111 171809111 + Frame_Shift_Del DEL G G - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 g.chr5:171809111delG c.330delC c.(328-330)cccfs p.P110fs GBMLGG 5 171765664 171765664 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:171765664C>A c.2445G>T c.(2443-2445)caG>caT p.Q815H GBMLGG 5 171809059 171809059 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:171809059C>T c.382G>A c.(382-384)Gac>Aac p.D128N HNSC 5 171766188 171766188 + Missense_Mutation SNP G G C TCGA-CV-7446-01A-11D-2229-08 TCGA-CV-7446-10A-01D-2229-08 g.chr5:171766188G>C c.1921C>G c.(1921-1923)Cag>Gag p.Q641E HNSC 5 171766223 171766223 + Missense_Mutation SNP G G A TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 g.chr5:171766223G>A c.1886C>T c.(1885-1887)gCc>gTc p.A629V HNSC 5 171774317 171774317 + Silent SNP C C T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 g.chr5:171774317C>T c.1032G>A c.(1030-1032)caG>caA p.Q344Q HNSC 5 171780911 171780911 + Missense_Mutation SNP C C T TCGA-UF-A71D-01A-12D-A34J-08 TCGA-UF-A71D-10B-01D-A34M-08 g.chr5:171780911C>T c.766G>A c.(766-768)Gaa>Aaa p.E256K HNSC 5 171809084 171809084 + Silent SNP C C A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 g.chr5:171809084C>A c.357G>T c.(355-357)ctG>ctT p.L119L HNSC 5 171849445 171849445 + Missense_Mutation SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 g.chr5:171849445C>T c.131G>A c.(130-132)cGc>cAc p.R44H KIPAN 5 171766891 171766891 + Frame_Shift_Del DEL C C - TCGA-B4-5836-01A-11D-1669-08 TCGA-B4-5836-10A-01D-1669-08 g.chr5:171766891delC c.1218delG c.(1216-1218)tggfs p.W406fs KIPAN 5 171789871 171789871 + Missense_Mutation SNP C C T TCGA-B0-5085-01A-01D-1462-08 TCGA-B0-5085-11A-01D-1462-08 g.chr5:171789871C>T c.430G>A c.(430-432)Ggt>Agt p.G144S KIRC 5 171766891 171766891 + Frame_Shift_Del DEL C C - TCGA-B4-5836-01A-11D-1669-08 TCGA-B4-5836-10A-01D-1669-08 g.chr5:171766891delC c.1218delG c.(1216-1218)tggfs p.W406fs KIRC 5 171789871 171789871 + Missense_Mutation SNP C C T TCGA-B0-5085-01A-01D-1462-08 TCGA-B0-5085-11A-01D-1462-08 g.chr5:171789871C>T c.430G>A c.(430-432)Ggt>Agt p.G144S LGG 5 171765664 171765664 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:171765664C>A c.2445G>T c.(2443-2445)caG>caT p.Q815H LGG 5 171809059 171809059 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:171809059C>T c.382G>A c.(382-384)Gac>Aac p.D128N LIHC 5 171766054 171766054 + Silent SNP G G A TCGA-DD-AAVR-01A-11D-A40R-10 TCGA-DD-AAVR-10A-01D-A40U-10 g.chr5:171766054G>A c.2055C>T c.(2053-2055)ggC>ggT p.G685G LIHC 5 171766062 171766062 + Missense_Mutation SNP C C A TCGA-DD-AAD1-01A-11D-A40R-10 TCGA-DD-AAD1-10A-01D-A40U-10 g.chr5:171766062C>A c.2047G>T c.(2047-2049)Ggg>Tgg p.G683W LIHC 5 171766310 171766310 + Missense_Mutation SNP T T G TCGA-DD-AAVV-01A-11D-A40R-10 TCGA-DD-AAVV-10A-01D-A40U-10 g.chr5:171766310T>G c.1799A>C c.(1798-1800)cAc>cCc p.H600P LIHC 5 171780994 171780994 + Missense_Mutation SNP A A G TCGA-G3-A3CG-01A-11D-A20W-10 TCGA-G3-A3CG-10A-01D-A20W-10 g.chr5:171780994A>G c.683T>C c.(682-684)gTc>gCc p.V228A LUAD 5 171765398 171765398 + Missense_Mutation SNP G G T TCGA-55-8089-01A-11D-2238-08 TCGA-55-8089-10A-01D-2238-08 g.chr5:171765398G>T c.2711C>A c.(2710-2712)tCc>tAc p.S904Y LUAD 5 171765474 171765474 + Missense_Mutation SNP G G A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 g.chr5:171765474G>A c.2635C>T c.(2635-2637)Cgg>Tgg p.R879W LUAD 5 171765622 171765622 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chr5:171765622G>A c.2487C>T c.(2485-2487)acC>acT p.T829T LUAD 5 171765673 171765673 + Silent SNP C C T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 g.chr5:171765673C>T c.2436G>A c.(2434-2436)ttG>ttA p.L812L LUAD 5 171765853 171765853 + Silent SNP C C T TCGA-44-3919-01A-02D-1458-08 TCGA-44-3919-10A-01D-1458-08 g.chr5:171765853C>T c.2256G>A c.(2254-2256)caG>caA p.Q752Q LUAD 5 171765873 171765873 + Missense_Mutation SNP G G A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 g.chr5:171765873G>A c.2236C>T c.(2236-2238)Cct>Tct p.P746S LUAD 5 171765892 171765892 + Silent SNP C C A TCGA-05-4427-01A-21D-1855-08 TCGA-05-4427-10A-01D-1855-08 g.chr5:171765892C>A c.2217G>T c.(2215-2217)gtG>gtT p.V739V LUAD 5 171765970 171765970 + Silent SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 g.chr5:171765970C>A c.2139G>T c.(2137-2139)acG>acT p.T713T LUAD 5 171765999 171765999 + Nonsense_Mutation SNP C C A TCGA-95-7039-01A-11D-1945-08 TCGA-95-7039-10A-01D-1946-08 g.chr5:171765999C>A c.2110G>T c.(2110-2112)Gag>Tag p.E704* LUAD 5 171766420 171766420 + Missense_Mutation SNP C C T TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chr5:171766420C>T c.1689G>A c.(1687-1689)atG>atA p.M563I LUAD 5 171766497 171766497 + Nonsense_Mutation SNP C C A TCGA-17-Z016-01A-01W-0746-08 TCGA-17-Z016-11A-01W-0746-08 g.chr5:171766497C>A c.1612G>T c.(1612-1614)Gag>Tag p.E538* LUAD 5 171766609 171766609 + Silent SNP T T A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 g.chr5:171766609T>A c.1500A>T c.(1498-1500)tcA>tcT p.S500S LUAD 5 171766667 171766667 + Missense_Mutation SNP C C A TCGA-44-8119-01A-11D-2238-08 TCGA-44-8119-10A-01D-2238-08 g.chr5:171766667C>A c.1442G>T c.(1441-1443)gGg>gTg p.G481V LUAD 5 171766861 171766861 + Missense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 g.chr5:171766861C>A c.1248G>T c.(1246-1248)tgG>tgT p.W416C LUAD 5 171773210 171773210 + Missense_Mutation SNP T T C TCGA-44-8117-01A-11D-2238-08 TCGA-44-8117-10A-01D-2238-08 g.chr5:171773210T>C c.1118A>G c.(1117-1119)tAt>tGt p.Y373C LUAD 5 171777409 171777409 + Missense_Mutation SNP G G A TCGA-69-7974-01A-11D-2184-08 TCGA-69-7974-10A-01D-2184-08 g.chr5:171777409G>A c.970C>T c.(970-972)Cgg>Tgg p.R324W LUAD 5 171777413 171777413 + Silent SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 g.chr5:171777413G>A c.966C>T c.(964-966)gaC>gaT p.D322D LUAD 5 171777438 171777438 + Missense_Mutation SNP T T A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 g.chr5:171777438T>A c.941A>T c.(940-942)aAg>aTg p.K314M LUAD 5 171849422 171849422 + Nonsense_Mutation SNP G G A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 g.chr5:171849422G>A c.154C>T c.(154-156)Cag>Tag p.Q52* LUAD 5 171849423 171849423 + Silent SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 g.chr5:171849423G>A c.153C>T c.(151-153)ctC>ctT p.L51L LUSC 5 171765617 171765617 + Missense_Mutation SNP T T C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 g.chr5:171765617T>C c.2492A>G c.(2491-2493)aAg>aGg p.K831R LUSC 5 171766306 171766306 + Missense_Mutation SNP C C A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 g.chr5:171766306C>A c.1803G>T c.(1801-1803)aaG>aaT p.K601N LUSC 5 171766402 171766402 + Silent SNP G G A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr5:171766402G>A c.1707C>T c.(1705-1707)atC>atT p.I569I LUSC 5 171766540 171766540 + Silent SNP A A T TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 g.chr5:171766540A>T c.1569T>A c.(1567-1569)ccT>ccA p.P523P LUSC 5 171833301 171833301 + Missense_Mutation SNP C C A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 g.chr5:171833301C>A c.212G>T c.(211-213)cGg>cTg p.R71L OV 5 171765936 171765936 + Missense_Mutation SNP A A C TCGA-04-1342-01A-01W-0486-08 TCGA-04-1342-11A-01W-0487-08 g.chr5:171765936A>C c.2173T>G c.(2173-2175)Tcc>Gcc p.S725A OV 5 171766097 171766097 + Missense_Mutation SNP C C G TCGA-25-1313-01A-01W-0492-08 TCGA-25-1313-10A-01W-0492-08 g.chr5:171766097C>G c.2012G>C c.(2011-2013)aGg>aCg p.R671T OV 5 171766348 171766348 + Silent SNP C C A TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 g.chr5:171766348C>A c.1761G>T c.(1759-1761)ctG>ctT p.L587L OV 5 171777565 171777565 + Missense_Mutation SNP C C A TCGA-24-1418-01A-01W-0549-09 TCGA-24-1418-10A-01W-0549-09 g.chr5:171777565C>A c.814G>T c.(814-816)Gcc>Tcc p.A272S OV 5 171809099 171809099 + Missense_Mutation SNP C C A TCGA-04-1353-01A-01D-1526-09 TCGA-04-1353-11B-01D-1526-09 g.chr5:171809099C>A c.342G>T c.(340-342)caG>caT p.Q114H PAAD 5 171780895 171780895 + Missense_Mutation SNP A A C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr5:171780895A>C c.782T>G c.(781-783)aTc>aGc p.I261S PAAD 5 171821594 171821594 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr5:171821594G>A c.282C>T c.(280-282)cgC>cgT p.R94R PRAD 5 171821588 171821588 + Silent SNP T T G TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 g.chr5:171821588T>G c.288A>C c.(286-288)atA>atC p.I96I READ 5 171765783 171765783 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr5:171765783G>T c.2326C>A c.(2326-2328)Cca>Aca p.P776T READ 5 171773255 171773255 + Missense_Mutation SNP A A G TCGA-EF-5830-01A-01D-1657-10 TCGA-EF-5830-10A-01D-1657-10 g.chr5:171773255A>G c.1073T>C c.(1072-1074)cTc>cCc p.L358P READ 5 171774307 171774307 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr5:171774307G>T c.1042C>A c.(1042-1044)Cct>Act p.P348T SARC 5 171766855 171766855 + Silent SNP C C T TCGA-WK-A8XS-01A-11D-A37C-09 TCGA-WK-A8XS-10E-01D-A37F-09 g.chr5:171766855C>T c.1254G>A c.(1252-1254)ccG>ccA p.P418P SARC 5 171809057 171809057 + Missense_Mutation SNP G G T TCGA-DX-A1KU-01A-32D-A24N-09 TCGA-DX-A1KU-10A-01D-A24N-09 g.chr5:171809057G>T c.384C>A c.(382-384)gaC>gaA p.D128E SKCM 5 171765398 171765398 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr5:171765398G>A c.2711C>T c.(2710-2712)tCc>tTc p.S904F SKCM 5 171765709 171765709 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 g.chr5:171765709G>A c.2400C>T c.(2398-2400)gtC>gtT p.V800V SKCM 5 171765837 171765837 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr5:171765837G>A c.2272C>T c.(2272-2274)Cca>Tca p.P758S SKCM 5 171765926 171765926 + Missense_Mutation SNP G G A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 g.chr5:171765926G>A c.2183C>T c.(2182-2184)gCc>gTc p.A728V SKCM 5 171765958 171765958 + Silent SNP A A G TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 g.chr5:171765958A>G c.2151T>C c.(2149-2151)gaT>gaC p.D717D SKCM 5 171766218 171766218 + Missense_Mutation SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 g.chr5:171766218G>A c.1891C>T c.(1891-1893)Ccc>Tcc p.P631S SKCM 5 171766262 171766262 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr5:171766262G>A c.1847C>T c.(1846-1848)tCc>tTc p.S616F SKCM 5 171766297 171766297 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 g.chr5:171766297G>A c.1812C>T c.(1810-1812)gcC>gcT p.A604A SKCM 5 171766709 171766709 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr5:171766709G>A c.1400C>T c.(1399-1401)tCc>tTc p.S467F SKCM 5 171773190 171773190 + Nonsense_Mutation SNP G G A TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr5:171773190G>A c.1138C>T c.(1138-1140)Cag>Tag p.Q380* SKCM 5 171833335 171833335 + Missense_Mutation SNP G G A TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr5:171833335G>A c.178C>T c.(178-180)Ccc>Tcc p.P60S

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 5 171765673 171765673 insertion of <=200bp - A frameshift_variant L812L? BLCA-US 5 171765673 171765673 insertion of <=200bp - A intron_variant BLCA-US 5 171765673 171765673 insertion of <=200bp - A upstream_gene_variant BLCA-US 5 171765985 171765985 single base substitution G A intron_variant BLCA-US 5 171765985 171765985 single base substitution G A synonymous_variant R708R 2124C>T BLCA-US 5 171765985 171765985 single base substitution G A upstream_gene_variant BLCA-US 5 171766782 171766782 single base substitution C T intron_variant BLCA-US 5 171766782 171766782 single base substitution C T missense_variant E443K 1327G>A BLCA-US 5 171773245 171773245 single base substitution C T synonymous_variant P31P 93G>A BLCA-US 5 171773245 171773245 single base substitution C T synonymous_variant P361P 1083G>A BOCA-FR 5 171864752 171864752 single base substitution G A intron_variant BOCA-UK 5 171766819 171766819 single base substitution G A intron_variant BOCA-UK 5 171766819 171766819 single base substitution G A synonymous_variant N430N 1290C>T BRCA-EU 5 171747874 171747874 single base substitution C G downstream_gene_variant BRCA-EU 5 171748140 171748140 single base substitution C T downstream_gene_variant BRCA-EU 5 171748172 171748172 single base substitution C T downstream_gene_variant BRCA-EU 5 171748568 171748568 single base substitution C T downstream_gene_variant BRCA-EU 5 171749568 171749568 single base substitution T C downstream_gene_variant BRCA-EU 5 171750129 171750129 single base substitution G A downstream_gene_variant BRCA-EU 5 171750660 171750660 single base substitution C G downstream_gene_variant BRCA-EU 5 171750836 171750836 single base substitution G C downstream_gene_variant BRCA-EU 5 171750953 171750953 single base substitution G A downstream_gene_variant BRCA-EU 5 171751027 171751027 single base substitution C T downstream_gene_variant BRCA-EU 5 171752611 171752611 single base substitution G A intron_variant BRCA-EU 5 171753497 171753497 single base substitution C G intron_variant BRCA-EU 5 171753803 171753803 single base substitution C G intron_variant BRCA-EU 5 171758020 171758020 single base substitution G A downstream_gene_variant BRCA-EU 5 171758020 171758020 single base substitution G A intron_variant BRCA-EU 5 171759832 171759832 single base substitution T C downstream_gene_variant BRCA-EU 5 171759832 171759832 single base substitution T C intron_variant BRCA-EU 5 171760510 171760510 single base substitution T C 3_prime_UTR_variant BRCA-EU 5 171760510 171760510 single base substitution T C exon_variant BRCA-EU 5 171760510 171760510 single base substitution T C intron_variant BRCA-EU 5 171761880 171761880 single base substitution C T 3_prime_UTR_variant BRCA-EU 5 171761880 171761880 single base substitution C T intron_variant BRCA-EU 5 171761880 171761880 single base substitution C T upstream_gene_variant BRCA-EU 5 171762997 171762997 single base substitution G A 3_prime_UTR_variant BRCA-EU 5 171762997 171762997 single base substitution G A intron_variant BRCA-EU 5 171762997 171762997 single base substitution G A upstream_gene_variant BRCA-EU 5 171767810 171767810 single base substitution G T intron_variant BRCA-EU 5 171768568 171768568 single base substitution G A intron_variant BRCA-EU 5 171769135 171769135 single base substitution A T intron_variant BRCA-EU 5 171769565 171769565 single base substitution A T intron_variant BRCA-EU 5 171769978 171769978 single base substitution C A intron_variant BRCA-EU 5 171770651 171770651 deletion of <=200bp A - intron_variant BRCA-EU 5 171771716 171771716 single base substitution C A intron_variant BRCA-EU 5 171772138 171772138 single base substitution G C intron_variant BRCA-EU 5 171773099 171773099 single base substitution C A intron_variant BRCA-EU 5 171773839 171773839 deletion of <=200bp A - intron_variant BRCA-EU 5 171774197 171774197 single base substitution T C intron_variant BRCA-EU 5 171775968 171775968 single base substitution C G intron_variant BRCA-EU 5 171777700 171777700 single base substitution G C intron_variant BRCA-EU 5 171777700 171777700 single base substitution G C upstream_gene_variant BRCA-EU 5 171778673 171778673 deletion of <=200bp A - intron_variant BRCA-EU 5 171778673 171778673 deletion of <=200bp A - upstream_gene_variant BRCA-EU 5 171779753 171779753 single base substitution C T intron_variant BRCA-EU 5 171779753 171779753 single base substitution C T upstream_gene_variant BRCA-EU 5 171781664 171781664 single base substitution G T intron_variant BRCA-EU 5 171781664 171781664 single base substitution G T upstream_gene_variant BRCA-EU 5 171782052 171782091 deletion of <=200bp TGTCTCAAGGGAGCCCAGCAAGGAGAGGAGAGGGCTCTCC - intron_variant BRCA-EU 5 171782052 171782091 deletion of <=200bp TGTCTCAAGGGAGCCCAGCAAGGAGAGGAGAGGGCTCTCC - upstream_gene_variant BRCA-EU 5 171783593 171783593 single base substitution C G intron_variant BRCA-EU 5 171787982 171787982 single base substitution C T intron_variant BRCA-EU 5 171788735 171788735 single base substitution C T intron_variant BRCA-EU 5 171789263 171789264 deletion of <=200bp GT - intron_variant BRCA-EU 5 171789612 171789612 single base substitution C T intron_variant BRCA-EU 5 171789858 171789858 single base substitution G A missense_variant S148L 443C>T BRCA-EU 5 171791502 171791502 single base substitution C T intron_variant BRCA-EU 5 171791781 171791781 single base substitution C T intron_variant BRCA-EU 5 171792441 171792441 single base substitution C T intron_variant BRCA-EU 5 171792692 171792692 single base substitution C T intron_variant BRCA-EU 5 171792756 171792756 single base substitution C G intron_variant BRCA-EU 5 171793085 171793085 single base substitution T C intron_variant BRCA-EU 5 171796103 171796103 single base substitution T C intron_variant BRCA-EU 5 171796948 171796948 single base substitution C G intron_variant BRCA-EU 5 171797760 171797760 single base substitution G A intron_variant BRCA-EU 5 171798737 171798737 single base substitution G T intron_variant BRCA-EU 5 171799335 171799335 single base substitution G C intron_variant BRCA-EU 5 171799843 171799843 single base substitution T G intron_variant BRCA-EU 5 171801089 171801089 single base substitution G A intron_variant BRCA-EU 5 171803199 171803199 single base substitution C G intron_variant BRCA-EU 5 171805588 171805588 single base substitution C T intron_variant BRCA-EU 5 171806714 171806714 single base substitution G C intron_variant BRCA-EU 5 171807100 171807100 single base substitution A G intron_variant BRCA-EU 5 171807298 171807298 single base substitution C A intron_variant BRCA-EU 5 171807317 171807317 single base substitution G C intron_variant BRCA-EU 5 171808278 171808278 single base substitution G C intron_variant BRCA-EU 5 171808297 171808297 single base substitution C A intron_variant BRCA-EU 5 171808985 171808985 single base substitution T C intron_variant BRCA-EU 5 171809105 171809105 single base substitution G C missense_variant I112M 336C>G BRCA-EU 5 171810158 171810158 single base substitution C T intron_variant BRCA-EU 5 171810472 171810472 single base substitution C G intron_variant BRCA-EU 5 171812880 171812880 single base substitution G C intron_variant BRCA-EU 5 171814264 171814264 single base substitution G C intron_variant BRCA-EU 5 171818047 171818047 single base substitution T G intron_variant BRCA-EU 5 171819677 171819677 single base substitution G A intron_variant BRCA-EU 5 171820039 171820039 single base substitution G C intron_variant BRCA-EU 5 171820075 171820075 single base substitution G C intron_variant BRCA-EU 5 171820123 171820123 single base substitution G A intron_variant BRCA-EU 5 171820472 171820472 single base substitution T C intron_variant BRCA-EU 5 171822235 171822235 single base substitution T C intron_variant BRCA-EU 5 171823479 171823479 single base substitution C T intron_variant BRCA-EU 5 171823996 171823996 single base substitution A G intron_variant BRCA-EU 5 171824172 171824172 single base substitution G C intron_variant BRCA-EU 5 171824556 171824556 single base substitution G A intron_variant BRCA-EU 5 171824580 171824580 single base substitution C G intron_variant BRCA-EU 5 171825238 171825238 single base substitution C T intron_variant BRCA-EU 5 171825564 171825564 single base substitution G A intron_variant BRCA-EU 5 171826982 171826984 deletion of <=200bp AGA - intron_variant BRCA-EU 5 171828555 171828555 single base substitution G T intron_variant BRCA-EU 5 171829349 171829349 single base substitution C G intron_variant BRCA-EU 5 171830362 171830362 single base substitution G A intron_variant BRCA-EU 5 171836056 171836056 single base substitution G C intron_variant BRCA-EU 5 171836339 171836339 single base substitution C T intron_variant BRCA-EU 5 171838441 171838441 single base substitution G A intron_variant BRCA-EU 5 171839780 171839780 single base substitution C T intron_variant BRCA-EU 5 171839848 171839848 single base substitution C G intron_variant BRCA-EU 5 171840419 171840419 single base substitution C T intron_variant BRCA-EU 5 171844110 171844110 single base substitution C T intron_variant BRCA-EU 5 171844718 171844718 single base substitution C G intron_variant BRCA-EU 5 171844997 171844997 single base substitution C T intron_variant BRCA-EU 5 171845321 171845321 single base substitution C T intron_variant BRCA-EU 5 171846182 171846182 single base substitution C G intron_variant BRCA-EU 5 171846335 171846335 single base substitution G C intron_variant BRCA-EU 5 171847500 171847500 single base substitution C T intron_variant BRCA-EU 5 171848215 171848215 single base substitution T A intron_variant BRCA-EU 5 171850769 171850769 single base substitution C A intron_variant BRCA-EU 5 171852223 171852223 single base substitution C T intron_variant BRCA-EU 5 171853207 171853207 single base substitution A T intron_variant BRCA-EU 5 171854055 171854055 single base substitution C T intron_variant BRCA-EU 5 171855173 171855173 single base substitution C T intron_variant BRCA-EU 5 171855687 171855687 single base substitution T C intron_variant BRCA-EU 5 171859064 171859064 single base substitution C G intron_variant BRCA-EU 5 171859679 171859679 single base substitution G A intron_variant BRCA-EU 5 171861539 171861539 single base substitution C T intron_variant BRCA-EU 5 171862573 171862573 single base substitution T C intron_variant BRCA-EU 5 171862940 171862940 single base substitution C G intron_variant BRCA-EU 5 171863667 171863667 single base substitution G A intron_variant BRCA-EU 5 171863983 171863983 single base substitution T G intron_variant BRCA-EU 5 171864800 171864800 single base substitution G C intron_variant BRCA-EU 5 171865159 171865159 single base substitution C T intron_variant BRCA-EU 5 171867018 171867018 single base substitution A T intron_variant BRCA-EU 5 171868988 171868988 single base substitution A C intron_variant BRCA-EU 5 171869217 171869234 deletion of <=200bp ATCAAACAGGCTGACTGC - intron_variant BRCA-EU 5 171870591 171870591 single base substitution T C intron_variant BRCA-EU 5 171871015 171871015 single base substitution C G intron_variant BRCA-EU 5 171871909 171871909 single base substitution C G intron_variant BRCA-EU 5 171873309 171873309 single base substitution T A intron_variant BRCA-EU 5 171873397 171873397 single base substitution C T intron_variant BRCA-EU 5 171873473 171873473 single base substitution G A intron_variant BRCA-EU 5 171874993 171874993 single base substitution A G intron_variant BRCA-EU 5 171877246 171877246 single base substitution T C intron_variant BRCA-EU 5 171877357 171877357 single base substitution C A intron_variant BRCA-EU 5 171879505 171879505 single base substitution T A intron_variant BRCA-EU 5 171879854 171879854 deletion of <=200bp A - intron_variant BRCA-EU 5 171882786 171882786 single base substitution G A upstream_gene_variant BRCA-EU 5 171883729 171883729 single base substitution C T upstream_gene_variant BRCA-FR 5 171747874 171747874 single base substitution C G downstream_gene_variant BRCA-FR 5 171750129 171750129 single base substitution G A downstream_gene_variant BRCA-FR 5 171758020 171758020 single base substitution G A downstream_gene_variant BRCA-FR 5 171758020 171758020 single base substitution G A intron_variant BRCA-FR 5 171768230 171768230 single base substitution G A intron_variant BRCA-FR 5 171768568 171768568 single base substitution G A intron_variant BRCA-FR 5 171779753 171779753 single base substitution C T intron_variant BRCA-FR 5 171779753 171779753 single base substitution C T upstream_gene_variant BRCA-FR 5 171792441 171792441 single base substitution C T intron_variant BRCA-FR 5 171793097 171793097 single base substitution G C intron_variant BRCA-FR 5 171796948 171796948 single base substitution C G intron_variant BRCA-FR 5 171797760 171797760 single base substitution G A intron_variant BRCA-FR 5 171814264 171814264 single base substitution G C intron_variant BRCA-FR 5 171820039 171820039 single base substitution G C intron_variant BRCA-FR 5 171830362 171830362 single base substitution G A intron_variant BRCA-FR 5 171844993 171844993 single base substitution C G intron_variant BRCA-FR 5 171853808 171853808 single base substitution G C intron_variant BRCA-KR 5 171849373 171849373 single base substitution T C intron_variant BRCA-UK 5 171757748 171757748 single base substitution C T downstream_gene_variant BRCA-UK 5 171757748 171757748 single base substitution C T intron_variant BRCA-UK 5 171767810 171767810 single base substitution G T intron_variant BRCA-UK 5 171769135 171769135 single base substitution A T intron_variant BRCA-UK 5 171799843 171799843 single base substitution T G intron_variant BRCA-UK 5 171822075 171822075 single base substitution C G intron_variant BRCA-UK 5 171823381 171823381 single base substitution C T intron_variant BRCA-UK 5 171836339 171836339 single base substitution C T intron_variant BRCA-UK 5 171854606 171854606 single base substitution C T intron_variant BRCA-UK 5 171857814 171857814 single base substitution A G intron_variant BRCA-UK 5 171859721 171859721 single base substitution G C intron_variant BRCA-UK 5 171861904 171861904 single base substitution C G intron_variant BRCA-UK 5 171873526 171873526 single base substitution C T intron_variant BRCA-US 5 171765522 171765522 single base substitution C T intron_variant BRCA-US 5 171765522 171765522 single base substitution C T missense_variant G863R 2587G>A BRCA-US 5 171765522 171765522 single base substitution C T upstream_gene_variant BRCA-US 5 171765983 171765983 single base substitution G A intron_variant BRCA-US 5 171765983 171765983 single base substitution G A missense_variant A709V 2126C>T BRCA-US 5 171765983 171765983 single base substitution G A upstream_gene_variant BRCA-US 5 171766090 171766090 single base substitution G C intron_variant BRCA-US 5 171766090 171766090 single base substitution G C synonymous_variant A673A 2019C>G BRCA-US 5 171766090 171766090 single base substitution G C upstream_gene_variant BRCA-US 5 171766111 171766111 single base substitution G A intron_variant BRCA-US 5 171766111 171766111 single base substitution G A synonymous_variant L666L 1998C>T BRCA-US 5 171766111 171766111 single base substitution G A upstream_gene_variant BRCA-US 5 171766138 171766138 single base substitution G A intron_variant BRCA-US 5 171766138 171766138 single base substitution G A synonymous_variant G657G 1971C>T BRCA-US 5 171766138 171766138 single base substitution G A upstream_gene_variant BRCA-US 5 171766429 171766429 single base substitution A C intron_variant BRCA-US 5 171766429 171766429 single base substitution A C missense_variant I560M 1680T>G BRCA-US 5 171766645 171766645 single base substitution C A intron_variant BRCA-US 5 171766645 171766645 single base substitution C A missense_variant W488C 1464G>T BRCA-US 5 171774304 171774304 single base substitution G A missense_variant R19C 55C>T BRCA-US 5 171774304 171774304 single base substitution G A missense_variant R349C 1045C>T BRCA-US 5 171809077 171809077 single base substitution A G missense_variant F122L 364T>C BTCA-JP 5 171765907 171765907 single base substitution C G intron_variant BTCA-JP 5 171765907 171765907 single base substitution C G missense_variant K734N 2202G>C BTCA-JP 5 171765907 171765907 single base substitution C G upstream_gene_variant BTCA-JP 5 171774404 171774404 single base substitution G A intron_variant BTCA-JP 5 171800753 171800753 single base substitution C T intron_variant BTCA-JP 5 171881423 171881423 single base substitution G A 5_prime_UTR_variant BTCA-JP 5 171881423 171881423 single base substitution G A upstream_gene_variant CESC-US 5 171765890 171765890 single base substitution G C intron_variant CESC-US 5 171765890 171765890 single base substitution G C missense_variant S740C 2219C>G CESC-US 5 171765890 171765890 single base substitution G C upstream_gene_variant CESC-US 5 171766545 171766545 single base substitution G C intron_variant CESC-US 5 171766545 171766545 single base substitution G C missense_variant L522V 1564C>G CESC-US 5 171766800 171766800 single base substitution G A intron_variant CESC-US 5 171766800 171766800 single base substitution G A synonymous_variant L437L 1309C>T CESC-US 5 171777403 171777403 single base substitution C G missense_variant E326Q 976G>C CESC-US 5 171777403 171777403 single base substitution C G upstream_gene_variant CESC-US 5 171866677 171866677 single base substitution T C intron_variant CLLE-ES 5 171749434 171749434 insertion of <=200bp - T downstream_gene_variant CLLE-ES 5 171762187 171762187 single base substitution C T 3_prime_UTR_variant CLLE-ES 5 171762187 171762187 single base substitution C T intron_variant CLLE-ES 5 171762187 171762187 single base substitution C T upstream_gene_variant CLLE-ES 5 171773202 171773202 single base substitution T A missense_variant I376F 1126A>T CLLE-ES 5 171773202 171773202 single base substitution T A missense_variant I46F 136A>T CLLE-ES 5 171781904 171781904 single base substitution G A intron_variant CLLE-ES 5 171781904 171781904 single base substitution G A upstream_gene_variant CLLE-ES 5 171788499 171788499 single base substitution C T intron_variant CLLE-ES 5 171797484 171797484 single base substitution G A intron_variant CLLE-ES 5 171818139 171818139 single base substitution C T intron_variant CLLE-ES 5 171829451 171829451 single base substitution C A intron_variant CLLE-ES 5 171835121 171835121 single base substitution G A intron_variant CLLE-ES 5 171843192 171843192 single base substitution C T intron_variant CLLE-ES 5 171857689 171857689 single base substitution C T intron_variant CLLE-ES 5 171872494 171872494 single base substitution G A intron_variant CLLE-ES 5 171884850 171884850 single base substitution G A upstream_gene_variant COAD-US 5 171765985 171765985 single base substitution G A intron_variant COAD-US 5 171765985 171765985 single base substitution G A synonymous_variant R708R 2124C>T COAD-US 5 171765985 171765985 single base substitution G A upstream_gene_variant COAD-US 5 171766905 171766905 single base substitution A G intron_variant COAD-US 5 171766905 171766905 single base substitution A G synonymous_variant L402L 1204T>C COAD-US 5 171773171 171773171 single base substitution C T missense_variant G386D 1157G>A COAD-US 5 171773171 171773171 single base substitution C T missense_variant G56D 167G>A COAD-US 5 171777454 171777454 single base substitution C T missense_variant A309T 925G>A COAD-US 5 171777454 171777454 single base substitution C T upstream_gene_variant COAD-US 5 171777528 171777528 single base substitution G A missense_variant P284L 851C>T COAD-US 5 171777528 171777528 single base substitution G A upstream_gene_variant COAD-US 5 171849471 171849471 single base substitution G A synonymous_variant S35S 105C>T COCA-CN 5 171748415 171748415 single base substitution A G downstream_gene_variant COCA-CN 5 171752417 171752417 single base substitution C A intron_variant COCA-CN 5 171752546 171752546 single base substitution G T intron_variant COCA-CN 5 171759259 171759259 single base substitution C T downstream_gene_variant COCA-CN 5 171759259 171759259 single base substitution C T intron_variant COCA-CN 5 171760545 171760545 single base substitution A T 3_prime_UTR_variant COCA-CN 5 171760545 171760545 single base substitution A T exon_variant COCA-CN 5 171760545 171760545 single base substitution A T intron_variant COCA-CN 5 171760546 171760546 single base substitution A T 3_prime_UTR_variant COCA-CN 5 171760546 171760546 single base substitution A T exon_variant COCA-CN 5 171760546 171760546 single base substitution A T intron_variant COCA-CN 5 171760547 171760547 single base substitution A T 3_prime_UTR_variant COCA-CN 5 171760547 171760547 single base substitution A T exon_variant COCA-CN 5 171760547 171760547 single base substitution A T intron_variant COCA-CN 5 171760569 171760569 single base substitution A G 3_prime_UTR_variant COCA-CN 5 171760569 171760569 single base substitution A G exon_variant COCA-CN 5 171760569 171760569 single base substitution A G intron_variant COCA-CN 5 171760837 171760837 single base substitution A G 3_prime_UTR_variant COCA-CN 5 171760837 171760837 single base substitution A G intron_variant COCA-CN 5 171763862 171763862 single base substitution T C 3_prime_UTR_variant COCA-CN 5 171763862 171763862 single base substitution T C intron_variant COCA-CN 5 171763862 171763862 single base substitution T C upstream_gene_variant COCA-CN 5 171766396 171766396 single base substitution T C intron_variant COCA-CN 5 171766396 171766396 single base substitution T C synonymous_variant P571P 1713A>G COCA-CN 5 171766402 171766402 single base substitution G T intron_variant COCA-CN 5 171766402 171766402 single base substitution G T synonymous_variant I569I 1707C>A COCA-CN 5 171767291 171767291 single base substitution G T intron_variant COCA-CN 5 171773245 171773245 single base substitution C T synonymous_variant P31P 93G>A COCA-CN 5 171773245 171773245 single base substitution C T synonymous_variant P361P 1083G>A COCA-CN 5 171775667 171775667 single base substitution C G intron_variant COCA-CN 5 171777630 171777630 single base substitution G A intron_variant COCA-CN 5 171777630 171777630 single base substitution G A upstream_gene_variant COCA-CN 5 171821506 171821506 single base substitution A C intron_variant COCA-CN 5 171849035 171849035 single base substitution G A intron_variant COCA-CN 5 171849412 171849412 single base substitution A C splice_region_variant COCA-CN 5 171856347 171856347 single base substitution G T intron_variant COCA-CN 5 171866286 171866286 single base substitution A C intron_variant COCA-CN 5 171866688 171866688 single base substitution A G intron_variant COCA-CN 5 171882136 171882136 single base substitution G T upstream_gene_variant EOPC-DE 5 171748250 171748250 single base substitution G A downstream_gene_variant EOPC-DE 5 171755010 171755010 single base substitution C T intron_variant EOPC-DE 5 171755360 171755360 single base substitution G A intron_variant EOPC-DE 5 171779235 171779235 single base substitution A T intron_variant EOPC-DE 5 171779235 171779235 single base substitution A T upstream_gene_variant EOPC-DE 5 171780208 171780208 single base substitution C A intron_variant EOPC-DE 5 171780208 171780208 single base substitution C A upstream_gene_variant EOPC-DE 5 171866695 171866695 single base substitution C T intron_variant ESAD-UK 5 171748388 171748388 single base substitution C G downstream_gene_variant ESAD-UK 5 171748391 171748391 single base substitution G A downstream_gene_variant ESAD-UK 5 171751111 171751111 single base substitution G A downstream_gene_variant ESAD-UK 5 171752141 171752141 single base substitution G A downstream_gene_variant ESAD-UK 5 171752192 171752192 single base substitution T C 3_prime_UTR_variant ESAD-UK 5 171753891 171753891 single base substitution C A intron_variant ESAD-UK 5 171753891 171753891 single base substitution C T intron_variant ESAD-UK 5 171754490 171754490 single base substitution A G intron_variant ESAD-UK 5 171756354 171756354 single base substitution C T downstream_gene_variant ESAD-UK 5 171756354 171756354 single base substitution C T intron_variant ESAD-UK 5 171757068 171757068 insertion of <=200bp - T downstream_gene_variant ESAD-UK 5 171757068 171757068 insertion of <=200bp - T intron_variant ESAD-UK 5 171757859 171757859 single base substitution G T downstream_gene_variant ESAD-UK 5 171757859 171757859 single base substitution G T intron_variant ESAD-UK 5 171757950 171757950 single base substitution G A downstream_gene_variant ESAD-UK 5 171757950 171757950 single base substitution G A intron_variant ESAD-UK 5 171760304 171760304 single base substitution A G downstream_gene_variant ESAD-UK 5 171760304 171760304 single base substitution A G intron_variant ESAD-UK 5 171760310 171760310 single base substitution A G downstream_gene_variant ESAD-UK 5 171760310 171760310 single base substitution A G intron_variant ESAD-UK 5 171760431 171760431 single base substitution G T downstream_gene_variant ESAD-UK 5 171760431 171760431 single base substitution G T intron_variant ESAD-UK 5 171760546 171760546 single base substitution A T 3_prime_UTR_variant ESAD-UK 5 171760546 171760546 single base substitution A T exon_variant ESAD-UK 5 171760546 171760546 single base substitution A T intron_variant ESAD-UK 5 171760547 171760547 single base substitution A T 3_prime_UTR_variant ESAD-UK 5 171760547 171760547 single base substitution A T exon_variant ESAD-UK 5 171760547 171760547 single base substitution A T intron_variant ESAD-UK 5 171761694 171761707 deletion of <=200bp CTGGAAGGCAGGAG - 3_prime_UTR_variant ESAD-UK 5 171761694 171761707 deletion of <=200bp CTGGAAGGCAGGAG - intron_variant ESAD-UK 5 171761694 171761707 deletion of <=200bp CTGGAAGGCAGGAG - upstream_gene_variant ESAD-UK 5 171763829 171763829 single base substitution T C 3_prime_UTR_variant ESAD-UK 5 171763829 171763829 single base substitution T C intron_variant ESAD-UK 5 171763829 171763829 single base substitution T C upstream_gene_variant ESAD-UK 5 171764588 171764588 deletion of <=200bp A - 3_prime_UTR_variant ESAD-UK 5 171764588 171764588 deletion of <=200bp A - intron_variant ESAD-UK 5 171764588 171764588 deletion of <=200bp A - upstream_gene_variant ESAD-UK 5 171767127 171767127 single base substitution G A intron_variant ESAD-UK 5 171767445 171767445 single base substitution C T intron_variant ESAD-UK 5 171767486 171767486 single base substitution G T intron_variant ESAD-UK 5 171767805 171767805 single base substitution G A intron_variant ESAD-UK 5 171768471 171768472 deletion of <=200bp CT - intron_variant ESAD-UK 5 171769495 171769495 single base substitution T C intron_variant ESAD-UK 5 171769753 171769753 single base substitution A T intron_variant ESAD-UK 5 171773272 171773272 single base substitution C T splice_region_variant ESAD-UK 5 171777100 171777100 single base substitution C T intron_variant ESAD-UK 5 171777776 171777776 single base substitution G T intron_variant ESAD-UK 5 171777776 171777776 single base substitution G T upstream_gene_variant ESAD-UK 5 171778387 171778387 single base substitution C T intron_variant ESAD-UK 5 171778387 171778387 single base substitution C T upstream_gene_variant ESAD-UK 5 171779160 171779160 single base substitution C T intron_variant ESAD-UK 5 171779160 171779160 single base substitution C T upstream_gene_variant ESAD-UK 5 171780550 171780550 single base substitution G C intron_variant ESAD-UK 5 171780550 171780550 single base substitution G C upstream_gene_variant ESAD-UK 5 171781127 171781127 deletion of <=200bp C - intron_variant ESAD-UK 5 171781127 171781127 deletion of <=200bp C - upstream_gene_variant ESAD-UK 5 171783144 171783144 single base substitution T C intron_variant ESAD-UK 5 171783940 171783940 single base substitution T A intron_variant ESAD-UK 5 171783952 171783952 single base substitution G A intron_variant ESAD-UK 5 171786591 171786591 single base substitution G T intron_variant ESAD-UK 5 171787983 171787983 single base substitution G A intron_variant ESAD-UK 5 171791698 171791698 single base substitution C A intron_variant ESAD-UK 5 171792916 171792916 single base substitution C T intron_variant ESAD-UK 5 171792979 171792983 deletion of <=200bp AGGTA - intron_variant ESAD-UK 5 171795183 171795183 single base substitution G T intron_variant ESAD-UK 5 171796664 171796664 single base substitution C T intron_variant ESAD-UK 5 171800061 171800061 single base substitution A T intron_variant ESAD-UK 5 171803844 171803844 single base substitution C T intron_variant ESAD-UK 5 171804912 171804912 single base substitution A T intron_variant ESAD-UK 5 171805765 171805765 single base substitution C A intron_variant ESAD-UK 5 171806653 171806653 single base substitution G A intron_variant ESAD-UK 5 171807970 171807970 insertion of <=200bp - TG intron_variant ESAD-UK 5 171811661 171811661 single base substitution A C intron_variant ESAD-UK 5 171815008 171815008 single base substitution T C intron_variant ESAD-UK 5 171815641 171815641 single base substitution C T intron_variant ESAD-UK 5 171821789 171821789 single base substitution T G intron_variant ESAD-UK 5 171822135 171822135 single base substitution C A intron_variant ESAD-UK 5 171823170 171823170 single base substitution A C intron_variant ESAD-UK 5 171824048 171824048 single base substitution T A intron_variant ESAD-UK 5 171827120 171827120 single base substitution G A intron_variant ESAD-UK 5 171827627 171827627 single base substitution C T intron_variant ESAD-UK 5 171828994 171828994 single base substitution G C intron_variant ESAD-UK 5 171833634 171833634 single base substitution T C intron_variant ESAD-UK 5 171839621 171839621 single base substitution G A intron_variant ESAD-UK 5 171840361 171840361 single base substitution A C intron_variant ESAD-UK 5 171844498 171844498 single base substitution G T intron_variant ESAD-UK 5 171845163 171845163 single base substitution T G intron_variant ESAD-UK 5 171845300 171845300 single base substitution G T intron_variant ESAD-UK 5 171852004 171852004 single base substitution G A intron_variant ESAD-UK 5 171852165 171852165 single base substitution C T intron_variant ESAD-UK 5 171852848 171852848 single base substitution A C intron_variant ESAD-UK 5 171855958 171855958 single base substitution C G intron_variant ESAD-UK 5 171856822 171856822 single base substitution C G intron_variant ESAD-UK 5 171857280 171857280 single base substitution C T intron_variant ESAD-UK 5 171858246 171858246 single base substitution G T intron_variant ESAD-UK 5 171858331 171858331 single base substitution G A intron_variant ESAD-UK 5 171858474 171858474 single base substitution G A intron_variant ESAD-UK 5 171859992 171859992 insertion of <=200bp - AC intron_variant ESAD-UK 5 171863917 171863917 single base substitution G A intron_variant ESAD-UK 5 171869627 171869627 single base substitution T G intron_variant ESAD-UK 5 171872561 171872561 single base substitution T C intron_variant ESAD-UK 5 171873432 171873432 single base substitution G A intron_variant ESAD-UK 5 171875538 171875538 single base substitution C T intron_variant ESAD-UK 5 171877733 171877733 single base substitution C A intron_variant ESAD-UK 5 171878633 171878633 single base substitution C T intron_variant ESAD-UK 5 171879854 171879854 deletion of <=200bp A - intron_variant ESAD-UK 5 171879892 171879892 single base substitution C T intron_variant ESAD-UK 5 171879999 171879999 single base substitution A T intron_variant ESAD-UK 5 171882453 171882453 single base substitution C T upstream_gene_variant ESAD-UK 5 171883091 171883091 single base substitution G C upstream_gene_variant ESAD-UK 5 171883500 171883500 single base substitution G A upstream_gene_variant ESAD-UK 5 171884534 171884534 single base substitution C T upstream_gene_variant ESCA-CN 5 171777413 171777413 single base substitution G A synonymous_variant D322D 966C>T ESCA-CN 5 171777413 171777413 single base substitution G A upstream_gene_variant ESCA-CN 5 171866690 171866690 single base substitution G A intron_variant GACA-CN 5 171766832 171766832 single base substitution T G intron_variant GACA-CN 5 171766832 171766832 single base substitution T G missense_variant K426T 1277A>C KIRC-US 5 171789871 171789871 single base substitution C T missense_variant G144S 430G>A LICA-FR 5 171765670 171765670 single base substitution C T intron_variant LICA-FR 5 171765670 171765670 single base substitution C T synonymous_variant G813G 2439G>A LICA-FR 5 171765670 171765670 single base substitution C T upstream_gene_variant LICA-FR 5 171777396 171777396 single base substitution C A missense_variant R328L 983G>T LICA-FR 5 171777396 171777396 single base substitution C A upstream_gene_variant LICA-FR 5 171796241 171796241 single base substitution G T intron_variant LICA-FR 5 171845465 171845465 single base substitution C T intron_variant LICA-FR 5 171866687 171866688 deletion of <=200bp CA - intron_variant LICA-FR 5 171870398 171870398 single base substitution T A intron_variant LICA-FR 5 171873974 171873974 single base substitution G A intron_variant LINC-JP 5 171766415 171766415 single base substitution G A intron_variant LINC-JP 5 171766415 171766415 single base substitution G A missense_variant P565L 1694C>T LINC-JP 5 171769906 171769906 single base substitution G A intron_variant LINC-JP 5 171788486 171788486 single base substitution T C intron_variant LINC-JP 5 171803814 171803814 single base substitution G C intron_variant LINC-JP 5 171807238 171807238 single base substitution T A intron_variant LINC-JP 5 171807239 171807239 single base substitution A T intron_variant LINC-JP 5 171838803 171838803 deletion of <=200bp T - intron_variant LINC-JP 5 171847612 171847612 single base substitution C T intron_variant LINC-JP 5 171858323 171858323 single base substitution C A intron_variant LINC-JP 5 171875302 171875302 single base substitution T A intron_variant LINC-JP 5 171875303 171875303 single base substitution C A intron_variant LINC-JP 5 171881298 171881298 single base substitution A C missense_variant V20G 59T>G LIRI-JP 5 171748308 171748308 single base substitution C A downstream_gene_variant LIRI-JP 5 171748325 171748325 single base substitution C A downstream_gene_variant LIRI-JP 5 171748333 171748333 single base substitution A T downstream_gene_variant LIRI-JP 5 171751257 171751257 single base substitution A G downstream_gene_variant LIRI-JP 5 171756539 171756539 single base substitution T C downstream_gene_variant LIRI-JP 5 171756539 171756539 single base substitution T C intron_variant LIRI-JP 5 171758943 171758943 single base substitution T C downstream_gene_variant LIRI-JP 5 171758943 171758943 single base substitution T C intron_variant LIRI-JP 5 171761979 171761979 single base substitution T A 3_prime_UTR_variant LIRI-JP 5 171761979 171761979 single base substitution T A intron_variant LIRI-JP 5 171761979 171761979 single base substitution T A upstream_gene_variant LIRI-JP 5 171764751 171764751 single base substitution T C 3_prime_UTR_variant LIRI-JP 5 171764751 171764751 single base substitution T C intron_variant LIRI-JP 5 171764751 171764751 single base substitution T C upstream_gene_variant LIRI-JP 5 171769669 171769669 single base substitution G A intron_variant LIRI-JP 5 171777030 171777030 single base substitution T C intron_variant LIRI-JP 5 171778659 171778659 single base substitution A G intron_variant LIRI-JP 5 171778659 171778659 single base substitution A G upstream_gene_variant LIRI-JP 5 171781071 171781071 single base substitution T C intron_variant LIRI-JP 5 171781071 171781071 single base substitution T C upstream_gene_variant LIRI-JP 5 171784831 171784831 single base substitution C T intron_variant LIRI-JP 5 171785576 171785576 single base substitution C T intron_variant LIRI-JP 5 171789744 171789744 single base substitution T C missense_variant E186G 557A>G LIRI-JP 5 171790143 171790143 single base substitution C T intron_variant LIRI-JP 5 171792570 171792570 single base substitution C T intron_variant LIRI-JP 5 171792864 171792867 deletion of <=200bp ACTC - intron_variant LIRI-JP 5 171795386 171795386 single base substitution C T intron_variant LIRI-JP 5 171798553 171798553 single base substitution A G intron_variant LIRI-JP 5 171799451 171799451 single base substitution T G intron_variant LIRI-JP 5 171799909 171799909 single base substitution C G intron_variant LIRI-JP 5 171800938 171800938 single base substitution A G intron_variant LIRI-JP 5 171803633 171803633 single base substitution T G intron_variant LIRI-JP 5 171803690 171803690 single base substitution G A intron_variant LIRI-JP 5 171806513 171806513 single base substitution T C intron_variant LIRI-JP 5 171809617 171809617 single base substitution T C intron_variant LIRI-JP 5 171811890 171811890 single base substitution G T intron_variant LIRI-JP 5 171813172 171813172 single base substitution C A intron_variant LIRI-JP 5 171814954 171814954 single base substitution G T intron_variant LIRI-JP 5 171815198 171815198 single base substitution T C intron_variant LIRI-JP 5 171815238 171815238 single base substitution G A intron_variant LIRI-JP 5 171815899 171815918 deletion of <=200bp ACCTTCTTCTGAGGGCTGGG - intron_variant LIRI-JP 5 171817232 171817232 single base substitution A T intron_variant LIRI-JP 5 171817427 171817427 single base substitution C A intron_variant LIRI-JP 5 171817938 171817938 single base substitution C T intron_variant LIRI-JP 5 171826858 171826858 single base substitution C T intron_variant LIRI-JP 5 171826995 171826995 single base substitution G T intron_variant LIRI-JP 5 171826996 171826996 single base substitution C T intron_variant LIRI-JP 5 171827398 171827398 single base substitution T C intron_variant LIRI-JP 5 171830099 171830099 single base substitution C T intron_variant LIRI-JP 5 171831855 171831855 single base substitution T C intron_variant LIRI-JP 5 171833095 171833095 single base substitution C A intron_variant LIRI-JP 5 171834137 171834137 single base substitution T G intron_variant LIRI-JP 5 171834983 171834983 single base substitution G C intron_variant LIRI-JP 5 171836960 171836960 single base substitution T A intron_variant LIRI-JP 5 171839136 171839136 single base substitution G A intron_variant LIRI-JP 5 171839740 171839740 single base substitution G A intron_variant LIRI-JP 5 171839741 171839741 single base substitution C A intron_variant LIRI-JP 5 171845553 171845553 single base substitution G A intron_variant LIRI-JP 5 171849899 171849899 single base substitution T C intron_variant LIRI-JP 5 171850835 171850835 single base substitution C T intron_variant LIRI-JP 5 171851156 171851156 single base substitution T G intron_variant LIRI-JP 5 171851292 171851292 single base substitution G A intron_variant LIRI-JP 5 171855066 171855066 single base substitution C A intron_variant LIRI-JP 5 171861054 171861054 single base substitution C A intron_variant LIRI-JP 5 171862263 171862263 single base substitution T C intron_variant LIRI-JP 5 171864675 171864675 single base substitution T C intron_variant LIRI-JP 5 171866770 171866770 single base substitution A C intron_variant LIRI-JP 5 171866793 171866793 single base substitution G A intron_variant LIRI-JP 5 171866860 171866860 single base substitution C A intron_variant LIRI-JP 5 171867441 171867441 single base substitution C T intron_variant LIRI-JP 5 171871013 171871013 single base substitution A G intron_variant LIRI-JP 5 171873310 171873310 single base substitution G A intron_variant LIRI-JP 5 171875542 171875542 single base substitution T C intron_variant LIRI-JP 5 171876964 171876964 single base substitution T C intron_variant LIRI-JP 5 171878384 171878384 single base substitution C T intron_variant LIRI-JP 5 171879125 171879125 single base substitution C T intron_variant LIRI-JP 5 171879839 171879839 single base substitution C A intron_variant LIRI-JP 5 171885589 171885589 single base substitution G A upstream_gene_variant LIRI-JP 5 171886129 171886129 single base substitution C T upstream_gene_variant LUSC-KR 5 171748926 171748926 single base substitution C G downstream_gene_variant LUSC-KR 5 171749209 171749209 single base substitution C G downstream_gene_variant LUSC-KR 5 171753497 171753497 single base substitution C T intron_variant LUSC-KR 5 171753891 171753891 single base substitution C T intron_variant LUSC-KR 5 171758100 171758100 single base substitution G T downstream_gene_variant LUSC-KR 5 171758100 171758100 single base substitution G T intron_variant LUSC-KR 5 171758193 171758193 single base substitution T C downstream_gene_variant LUSC-KR 5 171758193 171758193 single base substitution T C intron_variant LUSC-KR 5 171759276 171759276 single base substitution G T downstream_gene_variant LUSC-KR 5 171759276 171759276 single base substitution G T intron_variant LUSC-KR 5 171760428 171760428 single base substitution T C downstream_gene_variant LUSC-KR 5 171760428 171760428 single base substitution T C intron_variant LUSC-KR 5 171760569 171760569 single base substitution A G 3_prime_UTR_variant LUSC-KR 5 171760569 171760569 single base substitution A G exon_variant LUSC-KR 5 171760569 171760569 single base substitution A G intron_variant LUSC-KR 5 171762005 171762005 single base substitution C T 3_prime_UTR_variant LUSC-KR 5 171762005 171762005 single base substitution C T intron_variant LUSC-KR 5 171762005 171762005 single base substitution C T upstream_gene_variant LUSC-KR 5 171762100 171762100 single base substitution C A 3_prime_UTR_variant LUSC-KR 5 171762100 171762100 single base substitution C A intron_variant LUSC-KR 5 171762100 171762100 single base substitution C A upstream_gene_variant LUSC-KR 5 171762575 171762575 single base substitution A G 3_prime_UTR_variant LUSC-KR 5 171762575 171762575 single base substitution A G intron_variant LUSC-KR 5 171762575 171762575 single base substitution A G upstream_gene_variant LUSC-KR 5 171762777 171762777 single base substitution T C 3_prime_UTR_variant LUSC-KR 5 171762777 171762777 single base substitution T C intron_variant LUSC-KR 5 171762777 171762777 single base substitution T C upstream_gene_variant LUSC-KR 5 171763862 171763862 single base substitution T C 3_prime_UTR_variant LUSC-KR 5 171763862 171763862 single base substitution T C intron_variant LUSC-KR 5 171763862 171763862 single base substitution T C upstream_gene_variant LUSC-KR 5 171764120 171764120 single base substitution T C 3_prime_UTR_variant LUSC-KR 5 171764120 171764120 single base substitution T C intron_variant LUSC-KR 5 171764120 171764120 single base substitution T C upstream_gene_variant LUSC-KR 5 171764158 171764158 single base substitution T C 3_prime_UTR_variant LUSC-KR 5 171764158 171764158 single base substitution T C intron_variant LUSC-KR 5 171764158 171764158 single base substitution T C upstream_gene_variant LUSC-KR 5 171764665 171764665 single base substitution C T 3_prime_UTR_variant LUSC-KR 5 171764665 171764665 single base substitution C T intron_variant LUSC-KR 5 171764665 171764665 single base substitution C T upstream_gene_variant LUSC-KR 5 171772803 171772803 single base substitution T G intron_variant LUSC-KR 5 171779593 171779593 single base substitution C T intron_variant LUSC-KR 5 171779593 171779593 single base substitution C T upstream_gene_variant LUSC-KR 5 171785700 171785700 single base substitution G T intron_variant LUSC-KR 5 171785892 171785892 single base substitution A G intron_variant LUSC-KR 5 171789565 171789565 single base substitution G A intron_variant LUSC-KR 5 171799886 171799886 single base substitution C G intron_variant LUSC-KR 5 171803956 171803956 single base substitution T C intron_variant LUSC-KR 5 171819042 171819042 single base substitution A T intron_variant LUSC-KR 5 171837600 171837600 single base substitution C G intron_variant LUSC-KR 5 171847312 171847312 single base substitution C T intron_variant LUSC-KR 5 171847974 171847974 single base substitution T A intron_variant LUSC-KR 5 171861792 171861792 single base substitution T G intron_variant LUSC-KR 5 171861794 171861794 single base substitution T G intron_variant LUSC-KR 5 171875134 171875134 single base substitution G A intron_variant LUSC-US 5 171765617 171765617 single base substitution T C intron_variant LUSC-US 5 171765617 171765617 single base substitution T C missense_variant K831R 2492A>G LUSC-US 5 171765617 171765617 single base substitution T C upstream_gene_variant LUSC-US 5 171766306 171766306 single base substitution C A intron_variant LUSC-US 5 171766306 171766306 single base substitution C A missense_variant K601N 1803G>T LUSC-US 5 171766402 171766402 single base substitution G A intron_variant LUSC-US 5 171766402 171766402 single base substitution G A synonymous_variant I569I 1707C>T LUSC-US 5 171766540 171766540 single base substitution A T intron_variant LUSC-US 5 171766540 171766540 single base substitution A T synonymous_variant P523P 1569T>A LUSC-US 5 171833301 171833301 single base substitution C A missense_variant R71L 212G>T MALY-DE 5 171750414 171750415 deletion of <=200bp TG - downstream_gene_variant MALY-DE 5 171752861 171752861 single base substitution C T intron_variant MALY-DE 5 171769766 171769766 deletion of <=200bp A - intron_variant MALY-DE 5 171774242 171774242 single base substitution G A intron_variant MALY-DE 5 171777630 171777630 single base substitution G A intron_variant MALY-DE 5 171777630 171777630 single base substitution G A upstream_gene_variant MALY-DE 5 171780698 171780698 single base substitution C T intron_variant MALY-DE 5 171780698 171780698 single base substitution C T upstream_gene_variant MALY-DE 5 171783039 171783039 single base substitution C T intron_variant MALY-DE 5 171784071 171784071 single base substitution C T intron_variant MALY-DE 5 171784428 171784428 insertion of <=200bp - A intron_variant MALY-DE 5 171800145 171800145 single base substitution G A intron_variant MALY-DE 5 171813013 171813013 single base substitution C A intron_variant MALY-DE 5 171819607 171819607 single base substitution G A intron_variant MALY-DE 5 171824949 171824949 single base substitution G A intron_variant MALY-DE 5 171830683 171830683 single base substitution C T intron_variant MALY-DE 5 171834649 171834649 single base substitution C T intron_variant MALY-DE 5 171834734 171834734 single base substitution C T intron_variant MALY-DE 5 171836276 171836276 single base substitution C A intron_variant MALY-DE 5 171844242 171844242 single base substitution C T intron_variant MALY-DE 5 171856759 171856759 single base substitution C T intron_variant MALY-DE 5 171858695 171858696 deletion of <=200bp CA - intron_variant MALY-DE 5 171859517 171859517 single base substitution G A intron_variant MALY-DE 5 171864766 171864766 single base substitution T A intron_variant MALY-DE 5 171877682 171877682 single base substitution T C intron_variant MALY-DE 5 171880389 171880389 single base substitution T G intron_variant MALY-DE 5 171884757 171884757 single base substitution C A upstream_gene_variant MELA-AU 5 171747332 171747332 single base substitution G A downstream_gene_variant MELA-AU 5 171747575 171747575 single base substitution G A downstream_gene_variant MELA-AU 5 171747759 171747759 single base substitution C T downstream_gene_variant MELA-AU 5 171748178 171748178 single base substitution C T downstream_gene_variant MELA-AU 5 171748382 171748382 single base substitution G C downstream_gene_variant MELA-AU 5 171748996 171748996 single base substitution G A downstream_gene_variant MELA-AU 5 171749065 171749065 single base substitution G A downstream_gene_variant MELA-AU 5 171749373 171749373 single base substitution C T downstream_gene_variant MELA-AU 5 171749386 171749386 single base substitution C T downstream_gene_variant MELA-AU 5 171749548 171749548 single base substitution C T downstream_gene_variant MELA-AU 5 171749851 171749852 multiple base substitution (>=2bp and <=200bp) CC TA downstream_gene_variant MELA-AU 5 171750086 171750086 single base substitution A G downstream_gene_variant MELA-AU 5 171750337 171750337 single base substitution C T downstream_gene_variant MELA-AU 5 171750411 171750411 single base substitution A G downstream_gene_variant MELA-AU 5 171750681 171750681 single base substitution G A downstream_gene_variant MELA-AU 5 171750766 171750766 single base substitution G A downstream_gene_variant MELA-AU 5 171750801 171750801 single base substitution C T downstream_gene_variant MELA-AU 5 171750986 171750986 single base substitution G A downstream_gene_variant MELA-AU 5 171751525 171751525 single base substitution C T downstream_gene_variant MELA-AU 5 171751619 171751619 single base substitution G A downstream_gene_variant MELA-AU 5 171752028 171752028 single base substitution G A downstream_gene_variant MELA-AU 5 171752311 171752311 single base substitution C T missense_variant G421E 1262G>A MELA-AU 5 171752346 171752346 single base substitution G A synonymous_variant V409V 1227C>T MELA-AU 5 171752815 171752815 single base substitution C T intron_variant MELA-AU 5 171753249 171753249 single base substitution G A intron_variant MELA-AU 5 171753591 171753591 single base substitution C T intron_variant MELA-AU 5 171753996 171753996 single base substitution G A intron_variant MELA-AU 5 171754262 171754262 single base substitution C T intron_variant MELA-AU 5 171754979 171754979 single base substitution G A intron_variant MELA-AU 5 171755029 171755029 single base substitution G A intron_variant MELA-AU 5 171755441 171755441 single base substitution G A intron_variant MELA-AU 5 171755553 171755553 single base substitution C T downstream_gene_variant MELA-AU 5 171755553 171755553 single base substitution C T intron_variant MELA-AU 5 171755886 171755886 single base substitution C T downstream_gene_variant MELA-AU 5 171755886 171755886 single base substitution C T intron_variant MELA-AU 5 171756065 171756065 single base substitution A G downstream_gene_variant MELA-AU 5 171756065 171756065 single base substitution A G intron_variant MELA-AU 5 171756393 171756393 single base substitution T A downstream_gene_variant MELA-AU 5 171756393 171756393 single base substitution T A intron_variant MELA-AU 5 171756605 171756605 single base substitution G A downstream_gene_variant MELA-AU 5 171756605 171756605 single base substitution G A intron_variant MELA-AU 5 171757166 171757166 single base substitution G A downstream_gene_variant MELA-AU 5 171757166 171757166 single base substitution G A intron_variant MELA-AU 5 171757712 171757712 single base substitution G A downstream_gene_variant MELA-AU 5 171757712 171757712 single base substitution G A intron_variant MELA-AU 5 171757725 171757726 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 5 171757725 171757726 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 171758018 171758018 single base substitution G A downstream_gene_variant MELA-AU 5 171758018 171758018 single base substitution G A intron_variant MELA-AU 5 171758212 171758212 single base substitution T A downstream_gene_variant MELA-AU 5 171758212 171758212 single base substitution T A intron_variant MELA-AU 5 171758305 171758305 single base substitution G A downstream_gene_variant MELA-AU 5 171758305 171758305 single base substitution G A intron_variant MELA-AU 5 171758379 171758379 single base substitution G A downstream_gene_variant MELA-AU 5 171758379 171758379 single base substitution G A intron_variant MELA-AU 5 171758550 171758550 single base substitution G A downstream_gene_variant MELA-AU 5 171758550 171758550 single base substitution G A intron_variant MELA-AU 5 171759210 171759210 single base substitution G A downstream_gene_variant MELA-AU 5 171759210 171759210 single base substitution G A intron_variant MELA-AU 5 171759321 171759321 single base substitution G A downstream_gene_variant MELA-AU 5 171759321 171759321 single base substitution G A intron_variant MELA-AU 5 171759673 171759673 single base substitution T G downstream_gene_variant MELA-AU 5 171759673 171759673 single base substitution T G intron_variant MELA-AU 5 171759685 171759685 single base substitution C T downstream_gene_variant MELA-AU 5 171759685 171759685 single base substitution C T intron_variant MELA-AU 5 171759724 171759724 single base substitution T C downstream_gene_variant MELA-AU 5 171759724 171759724 single base substitution T C intron_variant MELA-AU 5 171760125 171760125 single base substitution G A downstream_gene_variant MELA-AU 5 171760125 171760125 single base substitution G A intron_variant MELA-AU 5 171760382 171760382 single base substitution C T downstream_gene_variant MELA-AU 5 171760382 171760382 single base substitution C T intron_variant MELA-AU 5 171760843 171760844 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 5 171760843 171760844 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 171761009 171761009 single base substitution C G 3_prime_UTR_variant MELA-AU 5 171761009 171761009 single base substitution C G intron_variant MELA-AU 5 171761221 171761221 single base substitution G A 3_prime_UTR_variant MELA-AU 5 171761221 171761221 single base substitution G A exon_variant MELA-AU 5 171761221 171761221 single base substitution G A intron_variant MELA-AU 5 171761279 171761279 single base substitution G A 3_prime_UTR_variant MELA-AU 5 171761279 171761279 single base substitution G A intron_variant MELA-AU 5 171761279 171761279 single base substitution G A upstream_gene_variant MELA-AU 5 171762300 171762300 single base substitution G A 3_prime_UTR_variant MELA-AU 5 171762300 171762300 single base substitution G A intron_variant MELA-AU 5 171762300 171762300 single base substitution G A upstream_gene_variant MELA-AU 5 171762363 171762363 single base substitution C T 3_prime_UTR_variant MELA-AU 5 171762363 171762363 single base substitution C T intron_variant MELA-AU 5 171762363 171762363 single base substitution C T upstream_gene_variant MELA-AU 5 171762631 171762631 single base substitution G A 3_prime_UTR_variant MELA-AU 5 171762631 171762631 single base substitution G A intron_variant MELA-AU 5 171762631 171762631 single base substitution G A upstream_gene_variant MELA-AU 5 171762821 171762821 single base substitution G A 3_prime_UTR_variant MELA-AU 5 171762821 171762821 single base substitution G A intron_variant MELA-AU 5 171762821 171762821 single base substitution G A upstream_gene_variant MELA-AU 5 171763319 171763319 single base substitution G A 3_prime_UTR_variant MELA-AU 5 171763319 171763319 single base substitution G A intron_variant MELA-AU 5 171763319 171763319 single base substitution G A upstream_gene_variant MELA-AU 5 171763468 171763468 single base substitution G A 3_prime_UTR_variant MELA-AU 5 171763468 171763468 single base substitution G A intron_variant MELA-AU 5 171763468 171763468 single base substitution G A upstream_gene_variant MELA-AU 5 171763923 171763923 single base substitution G A 3_prime_UTR_variant MELA-AU 5 171763923 171763923 single base substitution G A intron_variant MELA-AU 5 171763923 171763923 single base substitution G A upstream_gene_variant MELA-AU 5 171764235 171764235 single base substitution G A 3_prime_UTR_variant MELA-AU 5 171764235 171764235 single base substitution G A intron_variant MELA-AU 5 171764235 171764235 single base substitution G A upstream_gene_variant MELA-AU 5 171764838 171764838 single base substitution G A 3_prime_UTR_variant MELA-AU 5 171764838 171764838 single base substitution G A intron_variant MELA-AU 5 171764838 171764838 single base substitution G A upstream_gene_variant MELA-AU 5 171765416 171765416 single base substitution C T intron_variant MELA-AU 5 171765416 171765416 single base substitution C T stop_gained W898* 2693G>A MELA-AU 5 171765416 171765416 single base substitution C T upstream_gene_variant MELA-AU 5 171766003 171766003 single base substitution T C intron_variant MELA-AU 5 171766003 171766003 single base substitution T C synonymous_variant P702P 2106A>G MELA-AU 5 171766003 171766003 single base substitution T C upstream_gene_variant MELA-AU 5 171766443 171766443 single base substitution G A intron_variant MELA-AU 5 171766443 171766443 single base substitution G A missense_variant P556S 1666C>T MELA-AU 5 171766767 171766767 single base substitution G A intron_variant MELA-AU 5 171766767 171766767 single base substitution G A missense_variant R448W 1342C>T MELA-AU 5 171767109 171767109 single base substitution G A intron_variant MELA-AU 5 171768646 171768646 single base substitution C T intron_variant MELA-AU 5 171768984 171768985 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 171769523 171769524 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU 5 171769858 171769858 single base substitution C T intron_variant MELA-AU 5 171770521 171770521 single base substitution G A intron_variant MELA-AU 5 171770525 171770526 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 171770643 171770643 single base substitution A G intron_variant MELA-AU 5 171771350 171771350 single base substitution G A intron_variant MELA-AU 5 171771928 171771928 single base substitution G A intron_variant MELA-AU 5 171771958 171771958 single base substitution G A intron_variant MELA-AU 5 171772064 171772064 single base substitution G A intron_variant MELA-AU 5 171772078 171772078 single base substitution G A intron_variant MELA-AU 5 171772093 171772093 single base substitution G A intron_variant MELA-AU 5 171772634 171772634 single base substitution G A intron_variant MELA-AU 5 171773368 171773368 single base substitution G A intron_variant MELA-AU 5 171773420 171773420 single base substitution A G intron_variant MELA-AU 5 171773899 171773899 single base substitution C T intron_variant MELA-AU 5 171774013 171774013 single base substitution G A intron_variant MELA-AU 5 171774526 171774526 single base substitution C T intron_variant MELA-AU 5 171775069 171775069 single base substitution G A intron_variant MELA-AU 5 171775092 171775092 single base substitution T C intron_variant MELA-AU 5 171775642 171775642 single base substitution G C intron_variant MELA-AU 5 171775659 171775659 single base substitution C G intron_variant MELA-AU 5 171775667 171775667 single base substitution C G intron_variant MELA-AU 5 171775711 171775711 single base substitution C T intron_variant MELA-AU 5 171776627 171776627 single base substitution C T intron_variant MELA-AU 5 171777031 171777031 single base substitution G T intron_variant MELA-AU 5 171777222 171777222 single base substitution G A intron_variant MELA-AU 5 171777231 171777231 single base substitution G A intron_variant MELA-AU 5 171778062 171778062 single base substitution G A intron_variant MELA-AU 5 171778062 171778062 single base substitution G A upstream_gene_variant MELA-AU 5 171779008 171779009 multiple base substitution (>=2bp and <=200bp) AG GA intron_variant MELA-AU 5 171779008 171779009 multiple base substitution (>=2bp and <=200bp) AG GA upstream_gene_variant MELA-AU 5 171779010 171779010 single base substitution G A intron_variant MELA-AU 5 171779010 171779010 single base substitution G A upstream_gene_variant MELA-AU 5 171779678 171779678 insertion of <=200bp - T intron_variant MELA-AU 5 171779678 171779678 insertion of <=200bp - T upstream_gene_variant MELA-AU 5 171780876 171780876 single base substitution G A intron_variant MELA-AU 5 171780876 171780876 single base substitution G A upstream_gene_variant MELA-AU 5 171781014 171781014 single base substitution G A splice_region_variant MELA-AU 5 171781014 171781014 single base substitution G A upstream_gene_variant MELA-AU 5 171781353 171781353 single base substitution G A intron_variant MELA-AU 5 171781353 171781353 single base substitution G A upstream_gene_variant MELA-AU 5 171781664 171781664 single base substitution G A intron_variant MELA-AU 5 171781664 171781664 single base substitution G A upstream_gene_variant MELA-AU 5 171781688 171781688 single base substitution G A intron_variant MELA-AU 5 171781688 171781688 single base substitution G A upstream_gene_variant MELA-AU 5 171782062 171782062 single base substitution G A intron_variant MELA-AU 5 171782062 171782062 single base substitution G A upstream_gene_variant MELA-AU 5 171782073 171782073 single base substitution G A intron_variant MELA-AU 5 171782073 171782073 single base substitution G A upstream_gene_variant MELA-AU 5 171782256 171782256 single base substitution A G intron_variant MELA-AU 5 171782256 171782256 single base substitution A G upstream_gene_variant MELA-AU 5 171782854 171782854 single base substitution G C intron_variant MELA-AU 5 171783054 171783054 single base substitution A G intron_variant MELA-AU 5 171783854 171783854 single base substitution G A intron_variant MELA-AU 5 171784351 171784351 single base substitution C T intron_variant MELA-AU 5 171784873 171784873 single base substitution G A intron_variant MELA-AU 5 171785228 171785228 single base substitution G A intron_variant MELA-AU 5 171785645 171785645 single base substitution G A intron_variant MELA-AU 5 171785694 171785694 single base substitution G A intron_variant MELA-AU 5 171785840 171785840 single base substitution G A missense_variant P202S 604C>T MELA-AU 5 171786085 171786086 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 171787095 171787095 single base substitution C A intron_variant MELA-AU 5 171787313 171787313 single base substitution T C intron_variant MELA-AU 5 171787480 171787480 single base substitution G A intron_variant MELA-AU 5 171787760 171787760 single base substitution C T intron_variant MELA-AU 5 171787779 171787779 single base substitution T C intron_variant MELA-AU 5 171787811 171787811 single base substitution G A intron_variant MELA-AU 5 171787830 171787830 single base substitution C T intron_variant MELA-AU 5 171788229 171788229 single base substitution A T intron_variant MELA-AU 5 171788262 171788262 single base substitution G A intron_variant MELA-AU 5 171788426 171788426 single base substitution G A intron_variant MELA-AU 5 171788575 171788575 single base substitution C G intron_variant MELA-AU 5 171789068 171789068 single base substitution G A intron_variant MELA-AU 5 171789088 171789088 single base substitution C T intron_variant MELA-AU 5 171789791 171789791 single base substitution C G missense_variant E170D 510G>C MELA-AU 5 171790593 171790594 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 171790594 171790594 single base substitution G A intron_variant MELA-AU 5 171790713 171790713 single base substitution G A intron_variant MELA-AU 5 171791045 171791045 single base substitution G A intron_variant MELA-AU 5 171791049 171791049 single base substitution G C intron_variant MELA-AU 5 171791428 171791428 single base substitution G A intron_variant MELA-AU 5 171791520 171791520 single base substitution G A intron_variant MELA-AU 5 171791842 171791842 single base substitution G A intron_variant MELA-AU 5 171792064 171792064 single base substitution C T intron_variant MELA-AU 5 171793626 171793626 deletion of <=200bp T - intron_variant MELA-AU 5 171794184 171794184 single base substitution C T intron_variant MELA-AU 5 171795293 171795293 single base substitution A G intron_variant MELA-AU 5 171795410 171795410 single base substitution G A intron_variant MELA-AU 5 171795768 171795768 single base substitution A G intron_variant MELA-AU 5 171796471 171796471 single base substitution G A intron_variant MELA-AU 5 171796791 171796791 deletion of <=200bp A - intron_variant MELA-AU 5 171797042 171797042 single base substitution G A intron_variant MELA-AU 5 171797350 171797350 single base substitution G A intron_variant MELA-AU 5 171797720 171797720 single base substitution G A intron_variant MELA-AU 5 171798004 171798004 single base substitution G A intron_variant MELA-AU 5 171798283 171798283 single base substitution G A intron_variant MELA-AU 5 171798407 171798407 single base substitution G A intron_variant MELA-AU 5 171798983 171798983 single base substitution G A intron_variant MELA-AU 5 171799758 171799759 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 171799781 171799781 single base substitution G A intron_variant MELA-AU 5 171799928 171799928 single base substitution G A intron_variant MELA-AU 5 171800258 171800258 single base substitution G A intron_variant MELA-AU 5 171800770 171800770 single base substitution G A intron_variant MELA-AU 5 171801091 171801091 single base substitution G A intron_variant MELA-AU 5 171801196 171801196 single base substitution A G intron_variant MELA-AU 5 171801519 171801519 single base substitution C T intron_variant MELA-AU 5 171801913 171801913 single base substitution G A intron_variant MELA-AU 5 171802658 171802658 single base substitution G A intron_variant MELA-AU 5 171802727 171802727 single base substitution G A intron_variant MELA-AU 5 171803128 171803128 single base substitution G A intron_variant MELA-AU 5 171803285 171803285 single base substitution G A intron_variant MELA-AU 5 171803302 171803302 single base substitution G A intron_variant MELA-AU 5 171804320 171804320 single base substitution G A intron_variant MELA-AU 5 171807612 171807612 single base substitution A T intron_variant MELA-AU 5 171807783 171807783 single base substitution C T intron_variant MELA-AU 5 171807924 171807924 single base substitution C T intron_variant MELA-AU 5 171808607 171808607 single base substitution G A intron_variant MELA-AU 5 171808623 171808623 single base substitution C A intron_variant MELA-AU 5 171809171 171809171 single base substitution G A intron_variant MELA-AU 5 171809416 171809416 single base substitution G A intron_variant MELA-AU 5 171809510 171809510 single base substitution G A intron_variant MELA-AU 5 171811221 171811221 single base substitution G A intron_variant MELA-AU 5 171811823 171811823 single base substitution G A intron_variant MELA-AU 5 171811951 171811951 single base substitution G A intron_variant MELA-AU 5 171812162 171812162 single base substitution G A intron_variant MELA-AU 5 171812901 171812901 single base substitution G A intron_variant MELA-AU 5 171813079 171813079 single base substitution G A intron_variant MELA-AU 5 171813716 171813716 single base substitution C T intron_variant MELA-AU 5 171814069 171814069 single base substitution A T intron_variant MELA-AU 5 171814423 171814423 single base substitution C T intron_variant MELA-AU 5 171814487 171814487 single base substitution T A intron_variant MELA-AU 5 171814517 171814517 single base substitution G A intron_variant MELA-AU 5 171814531 171814531 single base substitution G A intron_variant MELA-AU 5 171814577 171814577 single base substitution G A intron_variant MELA-AU 5 171814744 171814744 single base substitution G A intron_variant MELA-AU 5 171816195 171816195 single base substitution G A intron_variant MELA-AU 5 171816327 171816327 single base substitution G A intron_variant MELA-AU 5 171817194 171817194 single base substitution G A intron_variant MELA-AU 5 171817557 171817557 single base substitution G C intron_variant MELA-AU 5 171818150 171818150 single base substitution C T intron_variant MELA-AU 5 171818163 171818163 single base substitution G A intron_variant MELA-AU 5 171818573 171818573 single base substitution C T intron_variant MELA-AU 5 171818659 171818659 single base substitution G A intron_variant MELA-AU 5 171818847 171818847 single base substitution T A intron_variant MELA-AU 5 171819129 171819129 single base substitution A G intron_variant MELA-AU 5 171819137 171819137 single base substitution G A intron_variant MELA-AU 5 171819437 171819437 single base substitution G A intron_variant MELA-AU 5 171819715 171819715 single base substitution G A intron_variant MELA-AU 5 171820075 171820075 single base substitution G A intron_variant MELA-AU 5 171820775 171820775 single base substitution T A intron_variant MELA-AU 5 171820878 171820878 single base substitution G T intron_variant MELA-AU 5 171820883 171820883 single base substitution G A intron_variant MELA-AU 5 171820943 171820943 single base substitution G A intron_variant MELA-AU 5 171820952 171820952 single base substitution G A intron_variant MELA-AU 5 171821271 171821271 single base substitution G A intron_variant MELA-AU 5 171821440 171821440 single base substitution C T intron_variant MELA-AU 5 171821679 171821679 single base substitution G A intron_variant MELA-AU 5 171821877 171821877 single base substitution G A intron_variant MELA-AU 5 171822281 171822282 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 5 171822626 171822626 single base substitution G A intron_variant MELA-AU 5 171822726 171822726 single base substitution T G intron_variant MELA-AU 5 171822932 171822932 single base substitution G A intron_variant MELA-AU 5 171823045 171823045 single base substitution G A intron_variant MELA-AU 5 171823510 171823510 single base substitution G A intron_variant MELA-AU 5 171823953 171823953 single base substitution G A intron_variant MELA-AU 5 171823957 171823957 single base substitution G A intron_variant MELA-AU 5 171824128 171824128 single base substitution A G intron_variant MELA-AU 5 171824152 171824152 single base substitution G A intron_variant MELA-AU 5 171824297 171824297 single base substitution A T intron_variant MELA-AU 5 171824741 171824741 single base substitution C T intron_variant MELA-AU 5 171825275 171825275 single base substitution T C intron_variant MELA-AU 5 171825306 171825306 single base substitution G A intron_variant MELA-AU 5 171825463 171825463 single base substitution C T intron_variant MELA-AU 5 171825792 171825792 single base substitution G A intron_variant MELA-AU 5 171827730 171827730 single base substitution G A intron_variant MELA-AU 5 171828301 171828301 single base substitution G A intron_variant MELA-AU 5 171828636 171828636 single base substitution G A intron_variant MELA-AU 5 171828670 171828670 single base substitution A G intron_variant MELA-AU 5 171829002 171829002 single base substitution G A intron_variant MELA-AU 5 171829112 171829112 single base substitution G A intron_variant MELA-AU 5 171829629 171829630 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 171829695 171829695 single base substitution G A intron_variant MELA-AU 5 171830560 171830560 single base substitution A C intron_variant MELA-AU 5 171830886 171830886 single base substitution G A intron_variant MELA-AU 5 171830930 171830930 single base substitution G A intron_variant MELA-AU 5 171831008 171831008 single base substitution G A intron_variant MELA-AU 5 171831237 171831237 single base substitution G A intron_variant MELA-AU 5 171831614 171831614 single base substitution G A intron_variant MELA-AU 5 171832190 171832190 single base substitution A G intron_variant MELA-AU 5 171832314 171832314 single base substitution G A intron_variant MELA-AU 5 171833347 171833347 single base substitution A G synonymous_variant L56L 166T>C MELA-AU 5 171833615 171833615 single base substitution G A intron_variant MELA-AU 5 171833791 171833791 single base substitution G A intron_variant MELA-AU 5 171833955 171833955 single base substitution G A intron_variant MELA-AU 5 171834155 171834155 single base substitution A G intron_variant MELA-AU 5 171834382 171834382 single base substitution G A intron_variant MELA-AU 5 171835530 171835530 single base substitution G A intron_variant MELA-AU 5 171836222 171836222 single base substitution A T intron_variant MELA-AU 5 171836417 171836417 single base substitution A C intron_variant MELA-AU 5 171836419 171836419 single base substitution A C intron_variant MELA-AU 5 171836783 171836783 single base substitution G A intron_variant MELA-AU 5 171836962 171836962 single base substitution C T intron_variant MELA-AU 5 171837535 171837535 single base substitution G T intron_variant MELA-AU 5 171839387 171839387 single base substitution C T intron_variant MELA-AU 5 171839675 171839675 single base substitution A G intron_variant MELA-AU 5 171839697 171839697 single base substitution G A intron_variant MELA-AU 5 171839721 171839721 single base substitution G T intron_variant MELA-AU 5 171839894 171839894 single base substitution G A intron_variant MELA-AU 5 171839905 171839905 single base substitution G A intron_variant MELA-AU 5 171840138 171840138 single base substitution G A intron_variant MELA-AU 5 171840163 171840163 single base substitution G A intron_variant MELA-AU 5 171840616 171840616 single base substitution G A intron_variant MELA-AU 5 171841090 171841090 single base substitution G A intron_variant MELA-AU 5 171841392 171841392 single base substitution G A intron_variant MELA-AU 5 171841487 171841487 single base substitution A G intron_variant MELA-AU 5 171841792 171841792 single base substitution G A intron_variant MELA-AU 5 171841799 171841799 single base substitution G A intron_variant MELA-AU 5 171842091 171842091 single base substitution G A intron_variant MELA-AU 5 171842565 171842565 single base substitution G A intron_variant MELA-AU 5 171842820 171842820 single base substitution G A intron_variant MELA-AU 5 171842864 171842864 single base substitution G A intron_variant MELA-AU 5 171843259 171843259 single base substitution G A intron_variant MELA-AU 5 171843316 171843316 single base substitution A G intron_variant MELA-AU 5 171844096 171844096 single base substitution G A intron_variant MELA-AU 5 171844157 171844157 single base substitution G A intron_variant MELA-AU 5 171844245 171844245 single base substitution G A intron_variant MELA-AU 5 171844373 171844373 single base substitution G A intron_variant MELA-AU 5 171845546 171845546 single base substitution G A intron_variant MELA-AU 5 171845576 171845576 single base substitution A G intron_variant MELA-AU 5 171845904 171845904 single base substitution G A intron_variant MELA-AU 5 171846198 171846198 single base substitution G A intron_variant MELA-AU 5 171846256 171846256 single base substitution C A intron_variant MELA-AU 5 171847674 171847674 single base substitution T C intron_variant MELA-AU 5 171847733 171847733 single base substitution T C intron_variant MELA-AU 5 171847939 171847939 single base substitution G A intron_variant MELA-AU 5 171847999 171847999 single base substitution G A intron_variant MELA-AU 5 171848007 171848007 single base substitution C T intron_variant MELA-AU 5 171848646 171848646 single base substitution G A intron_variant MELA-AU 5 171849092 171849092 single base substitution G A intron_variant MELA-AU 5 171849262 171849262 single base substitution G T intron_variant MELA-AU 5 171849815 171849815 single base substitution G A intron_variant MELA-AU 5 171850509 171850509 single base substitution C T intron_variant MELA-AU 5 171850552 171850552 single base substitution G C intron_variant MELA-AU 5 171851706 171851706 single base substitution G T intron_variant MELA-AU 5 171851861 171851861 single base substitution G A intron_variant MELA-AU 5 171852523 171852523 single base substitution G A intron_variant MELA-AU 5 171852539 171852539 single base substitution G A intron_variant MELA-AU 5 171852828 171852828 single base substitution C T intron_variant MELA-AU 5 171853023 171853023 single base substitution G A intron_variant MELA-AU 5 171853041 171853041 single base substitution G A intron_variant MELA-AU 5 171853042 171853042 single base substitution G A intron_variant MELA-AU 5 171853055 171853055 single base substitution A T intron_variant MELA-AU 5 171853103 171853103 single base substitution A T intron_variant MELA-AU 5 171853331 171853331 single base substitution G A intron_variant MELA-AU 5 171853333 171853333 single base substitution G A intron_variant MELA-AU 5 171853446 171853446 single base substitution G A intron_variant MELA-AU 5 171853867 171853867 single base substitution G A intron_variant MELA-AU 5 171855313 171855313 single base substitution G A intron_variant MELA-AU 5 171856126 171856126 single base substitution G A intron_variant MELA-AU 5 171856332 171856332 single base substitution G A intron_variant MELA-AU 5 171856441 171856441 single base substitution G A intron_variant MELA-AU 5 171856613 171856613 single base substitution G A intron_variant MELA-AU 5 171856615 171856615 single base substitution G A intron_variant MELA-AU 5 171856645 171856645 single base substitution G A intron_variant MELA-AU 5 171856889 171856889 single base substitution G A intron_variant MELA-AU 5 171857439 171857439 single base substitution C T intron_variant MELA-AU 5 171857467 171857467 single base substitution G A intron_variant MELA-AU 5 171858164 171858164 single base substitution C T intron_variant MELA-AU 5 171858705 171858705 single base substitution C T intron_variant MELA-AU 5 171859649 171859649 single base substitution G A intron_variant MELA-AU 5 171860384 171860384 single base substitution G A intron_variant MELA-AU 5 171860873 171860873 single base substitution G A intron_variant MELA-AU 5 171860912 171860912 single base substitution C T intron_variant MELA-AU 5 171861563 171861563 single base substitution G A intron_variant MELA-AU 5 171861769 171861769 single base substitution G A intron_variant MELA-AU 5 171862149 171862149 single base substitution A G intron_variant MELA-AU 5 171862522 171862522 single base substitution G A intron_variant MELA-AU 5 171862961 171862961 single base substitution G A intron_variant MELA-AU 5 171863044 171863044 single base substitution G C intron_variant MELA-AU 5 171863294 171863294 single base substitution G A intron_variant MELA-AU 5 171863719 171863719 single base substitution G A intron_variant MELA-AU 5 171864233 171864233 single base substitution G A intron_variant MELA-AU 5 171865315 171865315 single base substitution G A intron_variant MELA-AU 5 171865503 171865503 single base substitution G A intron_variant MELA-AU 5 171865645 171865645 single base substitution A C intron_variant MELA-AU 5 171865774 171865774 single base substitution G A intron_variant MELA-AU 5 171866219 171866219 single base substitution G A intron_variant MELA-AU 5 171866429 171866429 single base substitution A T intron_variant MELA-AU 5 171866851 171866851 single base substitution G A intron_variant MELA-AU 5 171867634 171867634 single base substitution G A intron_variant MELA-AU 5 171867659 171867659 single base substitution G A intron_variant MELA-AU 5 171868047 171868047 single base substitution G A intron_variant MELA-AU 5 171868641 171868641 single base substitution G A intron_variant MELA-AU 5 171868653 171868653 single base substitution G A intron_variant MELA-AU 5 171868852 171868852 single base substitution G A intron_variant MELA-AU 5 171869237 171869237 single base substitution G A intron_variant MELA-AU 5 171869633 171869633 single base substitution T G intron_variant MELA-AU 5 171869891 171869891 single base substitution G A intron_variant MELA-AU 5 171870427 171870427 single base substitution C A intron_variant MELA-AU 5 171871131 171871131 single base substitution G A intron_variant MELA-AU 5 171871773 171871773 single base substitution C T intron_variant MELA-AU 5 171872694 171872694 single base substitution G A intron_variant MELA-AU 5 171873187 171873187 single base substitution C T intron_variant MELA-AU 5 171873720 171873720 single base substitution G A intron_variant MELA-AU 5 171875167 171875167 single base substitution G A intron_variant MELA-AU 5 171875904 171875904 single base substitution G A intron_variant MELA-AU 5 171877604 171877604 single base substitution A C intron_variant MELA-AU 5 171877832 171877832 single base substitution A T intron_variant MELA-AU 5 171878170 171878170 single base substitution G A intron_variant MELA-AU 5 171880391 171880391 single base substitution A C intron_variant MELA-AU 5 171880663 171880663 single base substitution G A intron_variant MELA-AU 5 171882492 171882492 single base substitution C T upstream_gene_variant MELA-AU 5 171883148 171883148 single base substitution C T upstream_gene_variant MELA-AU 5 171883556 171883556 single base substitution C T upstream_gene_variant MELA-AU 5 171883639 171883639 single base substitution C T upstream_gene_variant MELA-AU 5 171883926 171883926 single base substitution C T upstream_gene_variant MELA-AU 5 171883946 171883946 single base substitution C T upstream_gene_variant MELA-AU 5 171883951 171883951 single base substitution C T upstream_gene_variant MELA-AU 5 171884116 171884116 single base substitution C T upstream_gene_variant MELA-AU 5 171884432 171884432 single base substitution C T upstream_gene_variant MELA-AU 5 171884652 171884652 single base substitution G A upstream_gene_variant MELA-AU 5 171884670 171884670 single base substitution C T upstream_gene_variant MELA-AU 5 171885502 171885502 single base substitution G A upstream_gene_variant MELA-AU 5 171885899 171885900 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 5 171885969 171885969 single base substitution C T upstream_gene_variant MELA-AU 5 171886508 171886508 single base substitution C T upstream_gene_variant ORCA-IN 5 171750413 171750413 insertion of <=200bp - TGTGTGTGTG downstream_gene_variant ORCA-IN 5 171750449 171750449 single base substitution A G downstream_gene_variant ORCA-IN 5 171751272 171751272 single base substitution T G downstream_gene_variant ORCA-IN 5 171777376 171777376 single base substitution C T missense_variant A335T 1003G>A ORCA-IN 5 171777376 171777376 single base substitution C T missense_variant A5T 13G>A ORCA-IN 5 171779941 171779941 single base substitution C A intron_variant ORCA-IN 5 171779941 171779941 single base substitution C A upstream_gene_variant ORCA-IN 5 171791188 171791188 single base substitution G A intron_variant ORCA-IN 5 171813860 171813860 single base substitution G A intron_variant ORCA-IN 5 171816207 171816207 single base substitution C T intron_variant ORCA-IN 5 171836192 171836192 single base substitution C A intron_variant ORCA-IN 5 171841790 171841790 single base substitution G C intron_variant ORCA-IN 5 171866076 171866076 single base substitution C G intron_variant OV-AU 5 171749271 171749271 single base substitution T A downstream_gene_variant OV-AU 5 171754396 171754396 single base substitution T A intron_variant OV-AU 5 171754744 171754744 single base substitution C A intron_variant OV-AU 5 171756733 171756733 single base substitution G C downstream_gene_variant OV-AU 5 171756733 171756733 single base substitution G C intron_variant OV-AU 5 171758637 171758637 single base substitution C G downstream_gene_variant OV-AU 5 171758637 171758637 single base substitution C G intron_variant OV-AU 5 171759557 171759557 single base substitution C A downstream_gene_variant OV-AU 5 171759557 171759557 single base substitution C A intron_variant OV-AU 5 171771842 171771842 single base substitution G C intron_variant OV-AU 5 171775638 171775638 single base substitution C G intron_variant OV-AU 5 171777339 171777339 single base substitution A G intron_variant OV-AU 5 171781218 171781218 single base substitution C T intron_variant OV-AU 5 171781218 171781218 single base substitution C T upstream_gene_variant OV-AU 5 171783717 171783717 single base substitution C G intron_variant OV-AU 5 171788562 171788562 single base substitution G T intron_variant OV-AU 5 171793297 171793297 single base substitution G A intron_variant OV-AU 5 171796241 171796241 single base substitution G T intron_variant OV-AU 5 171806208 171806208 single base substitution G A intron_variant OV-AU 5 171808239 171808239 single base substitution G A intron_variant OV-AU 5 171812243 171812243 single base substitution G T intron_variant OV-AU 5 171812613 171812613 single base substitution G A intron_variant OV-AU 5 171813578 171813578 single base substitution G A intron_variant OV-AU 5 171819972 171819972 single base substitution C T intron_variant OV-AU 5 171827417 171827417 single base substitution G C intron_variant OV-AU 5 171828116 171828116 single base substitution A C intron_variant OV-AU 5 171832913 171832913 single base substitution G T intron_variant OV-AU 5 171851339 171851339 single base substitution G C intron_variant OV-AU 5 171866259 171866259 single base substitution A C intron_variant OV-AU 5 171866895 171866895 single base substitution C A intron_variant OV-AU 5 171867959 171867959 single base substitution A G intron_variant OV-AU 5 171872228 171872228 single base substitution G C intron_variant OV-AU 5 171872982 171872982 single base substitution C G intron_variant OV-AU 5 171873485 171873485 single base substitution G C intron_variant OV-US 5 171777565 171777565 single base substitution C A missense_variant A272S 814G>T OV-US 5 171777565 171777565 single base substitution C A upstream_gene_variant PACA-AU 5 171749425 171749425 single base substitution T C downstream_gene_variant PACA-AU 5 171751753 171751753 single base substitution C T downstream_gene_variant PACA-AU 5 171752586 171752586 single base substitution G A intron_variant PACA-AU 5 171755762 171755762 single base substitution C T downstream_gene_variant PACA-AU 5 171755762 171755762 single base substitution C T intron_variant PACA-AU 5 171756636 171756636 single base substitution G T downstream_gene_variant PACA-AU 5 171756636 171756636 single base substitution G T intron_variant PACA-AU 5 171759257 171759257 insertion of <=200bp - T downstream_gene_variant PACA-AU 5 171759257 171759257 insertion of <=200bp - T intron_variant PACA-AU 5 171760547 171760547 single base substitution A T 3_prime_UTR_variant PACA-AU 5 171760547 171760547 single base substitution A T exon_variant PACA-AU 5 171760547 171760547 single base substitution A T intron_variant PACA-AU 5 171761807 171761807 single base substitution C A 3_prime_UTR_variant PACA-AU 5 171761807 171761807 single base substitution C A intron_variant PACA-AU 5 171761807 171761807 single base substitution C A upstream_gene_variant PACA-AU 5 171765215 171765215 single base substitution C T 3_prime_UTR_variant PACA-AU 5 171765215 171765215 single base substitution C T intron_variant PACA-AU 5 171765215 171765215 single base substitution C T upstream_gene_variant PACA-AU 5 171768030 171768030 single base substitution C G intron_variant PACA-AU 5 171769955 171769955 single base substitution C T intron_variant PACA-AU 5 171773418 171773418 single base substitution G A intron_variant PACA-AU 5 171773751 171773751 single base substitution C T intron_variant PACA-AU 5 171774252 171774252 single base substitution C A intron_variant PACA-AU 5 171779920 171779920 single base substitution C G intron_variant PACA-AU 5 171779920 171779920 single base substitution C G upstream_gene_variant PACA-AU 5 171786208 171786208 single base substitution T A intron_variant PACA-AU 5 171787573 171787573 single base substitution C T intron_variant PACA-AU 5 171790594 171790594 single base substitution G T intron_variant PACA-AU 5 171800017 171800017 single base substitution C T intron_variant PACA-AU 5 171803607 171803607 single base substitution C A intron_variant PACA-AU 5 171807060 171807060 deletion of <=200bp T - intron_variant PACA-AU 5 171807212 171807212 single base substitution C A intron_variant PACA-AU 5 171807836 171807836 single base substitution G A intron_variant PACA-AU 5 171811334 171811334 single base substitution A T intron_variant PACA-AU 5 171811812 171811812 single base substitution T G intron_variant PACA-AU 5 171817814 171817814 single base substitution G A intron_variant PACA-AU 5 171819835 171819835 single base substitution C A intron_variant PACA-AU 5 171819836 171819836 single base substitution C G intron_variant PACA-AU 5 171829220 171829220 single base substitution G C intron_variant PACA-AU 5 171831306 171831306 insertion of <=200bp - AT intron_variant PACA-AU 5 171841210 171841210 single base substitution C T intron_variant PACA-AU 5 171845342 171845342 single base substitution G C intron_variant PACA-AU 5 171846246 171846246 single base substitution C A intron_variant PACA-AU 5 171850054 171850054 single base substitution T C intron_variant PACA-AU 5 171860765 171860765 single base substitution G A intron_variant PACA-AU 5 171862307 171862307 single base substitution G C intron_variant PACA-AU 5 171863621 171863621 single base substitution G A intron_variant PACA-AU 5 171872004 171872004 single base substitution T C intron_variant PACA-AU 5 171875615 171875615 single base substitution G A intron_variant PACA-AU 5 171878440 171878440 single base substitution T C intron_variant PACA-CA 5 171747193 171747193 single base substitution G C downstream_gene_variant PACA-CA 5 171748119 171748119 single base substitution G A downstream_gene_variant PACA-CA 5 171748498 171748498 single base substitution T A downstream_gene_variant PACA-CA 5 171749739 171749739 single base substitution T A downstream_gene_variant PACA-CA 5 171754010 171754010 single base substitution G A intron_variant PACA-CA 5 171754511 171754511 single base substitution C T intron_variant PACA-CA 5 171754742 171754742 single base substitution A G intron_variant PACA-CA 5 171756699 171756699 single base substitution G A downstream_gene_variant PACA-CA 5 171756699 171756699 single base substitution G A intron_variant PACA-CA 5 171759645 171759645 single base substitution T C downstream_gene_variant PACA-CA 5 171759645 171759645 single base substitution T C intron_variant PACA-CA 5 171759889 171759889 single base substitution C G downstream_gene_variant PACA-CA 5 171759889 171759889 single base substitution C G intron_variant PACA-CA 5 171761174 171761174 single base substitution C T 3_prime_UTR_variant PACA-CA 5 171761174 171761174 single base substitution C T exon_variant PACA-CA 5 171761174 171761174 single base substitution C T intron_variant PACA-CA 5 171763026 171763026 single base substitution C T 3_prime_UTR_variant PACA-CA 5 171763026 171763026 single base substitution C T intron_variant PACA-CA 5 171763026 171763026 single base substitution C T upstream_gene_variant PACA-CA 5 171764879 171764879 single base substitution C G 3_prime_UTR_variant PACA-CA 5 171764879 171764879 single base substitution C G intron_variant PACA-CA 5 171764879 171764879 single base substitution C G upstream_gene_variant PACA-CA 5 171766170 171766170 single base substitution C T intron_variant PACA-CA 5 171766170 171766170 single base substitution C T missense_variant A647T 1939G>A PACA-CA 5 171766170 171766170 single base substitution C T upstream_gene_variant PACA-CA 5 171771854 171771854 single base substitution C G intron_variant PACA-CA 5 171771855 171771855 single base substitution A G intron_variant PACA-CA 5 171773177 171773177 single base substitution G T missense_variant P384Q 1151C>A PACA-CA 5 171773177 171773177 single base substitution G T missense_variant P54Q 161C>A PACA-CA 5 171773239 171773239 single base substitution C T synonymous_variant P33P 99G>A PACA-CA 5 171773239 171773239 single base substitution C T synonymous_variant P363P 1089G>A PACA-CA 5 171773339 171773339 single base substitution G A intron_variant PACA-CA 5 171775686 171775686 insertion of <=200bp - C intron_variant PACA-CA 5 171777085 171777085 single base substitution C A intron_variant PACA-CA 5 171778162 171778162 single base substitution G A intron_variant PACA-CA 5 171778162 171778162 single base substitution G A upstream_gene_variant PACA-CA 5 171779374 171779374 single base substitution G A intron_variant PACA-CA 5 171779374 171779374 single base substitution G A upstream_gene_variant PACA-CA 5 171781002 171781002 single base substitution C T synonymous_variant K225K 675G>A PACA-CA 5 171781002 171781002 single base substitution C T upstream_gene_variant PACA-CA 5 171781539 171781539 single base substitution G C intron_variant PACA-CA 5 171781539 171781539 single base substitution G C upstream_gene_variant PACA-CA 5 171783503 171783503 single base substitution C A intron_variant PACA-CA 5 171791423 171791423 single base substitution C G intron_variant PACA-CA 5 171797487 171797487 single base substitution C T intron_variant PACA-CA 5 171800383 171800383 single base substitution T C intron_variant PACA-CA 5 171803557 171803557 single base substitution G T intron_variant PACA-CA 5 171804437 171804437 single base substitution C A intron_variant PACA-CA 5 171806768 171806768 single base substitution C T intron_variant PACA-CA 5 171808621 171808621 single base substitution C G intron_variant PACA-CA 5 171811429 171811429 single base substitution T C intron_variant PACA-CA 5 171818490 171818490 single base substitution G A intron_variant PACA-CA 5 171820278 171820278 single base substitution T G intron_variant PACA-CA 5 171827947 171827947 single base substitution G A intron_variant PACA-CA 5 171830151 171830151 single base substitution G A intron_variant PACA-CA 5 171830536 171830540 deletion of <=200bp TTGAG - intron_variant PACA-CA 5 171830545 171830545 insertion of <=200bp - T intron_variant PACA-CA 5 171831041 171831041 single base substitution C T intron_variant PACA-CA 5 171837804 171837804 single base substitution G A intron_variant PACA-CA 5 171842353 171842353 single base substitution C A intron_variant PACA-CA 5 171846037 171846037 single base substitution G A intron_variant PACA-CA 5 171849419 171849419 single base substitution C T splice_donor_variant PACA-CA 5 171850808 171850808 single base substitution G T intron_variant PACA-CA 5 171852840 171852840 single base substitution T C intron_variant PACA-CA 5 171853785 171853785 single base substitution T A intron_variant PACA-CA 5 171855353 171855353 single base substitution C T intron_variant PACA-CA 5 171855396 171855396 single base substitution C T intron_variant PACA-CA 5 171856222 171856222 single base substitution G T intron_variant PACA-CA 5 171858561 171858561 deletion of <=200bp G - intron_variant PACA-CA 5 171860012 171860012 single base substitution G T intron_variant PACA-CA 5 171862906 171862906 single base substitution C T intron_variant PACA-CA 5 171863916 171863916 single base substitution C T intron_variant PACA-CA 5 171864987 171864987 single base substitution C A intron_variant PACA-CA 5 171866897 171866897 single base substitution A T intron_variant PACA-CA 5 171867893 171867893 insertion of <=200bp - G intron_variant PACA-CA 5 171871436 171871436 single base substitution C T intron_variant PACA-CA 5 171871936 171871936 single base substitution G A intron_variant PACA-CA 5 171877483 171877483 single base substitution T C intron_variant PACA-CA 5 171882458 171882458 single base substitution A G upstream_gene_variant PACA-CA 5 171884663 171884663 single base substitution G T upstream_gene_variant PACA-CA 5 171886274 171886274 single base substitution A T upstream_gene_variant PAEN-AU 5 171749638 171749638 single base substitution A C downstream_gene_variant PAEN-AU 5 171775663 171775663 single base substitution C G intron_variant PAEN-AU 5 171796241 171796241 single base substitution G T intron_variant PAEN-AU 5 171796242 171796242 single base substitution T G intron_variant PAEN-AU 5 171800160 171800160 single base substitution T C intron_variant PAEN-AU 5 171813578 171813578 single base substitution G A intron_variant PAEN-AU 5 171841532 171841532 single base substitution C A intron_variant PAEN-AU 5 171870449 171870449 single base substitution C T intron_variant PAEN-AU 5 171874896 171874896 single base substitution T G intron_variant PAEN-AU 5 171883306 171883306 single base substitution T G upstream_gene_variant PAEN-AU 5 171884679 171884679 single base substitution C A upstream_gene_variant PAEN-IT 5 171845323 171845323 single base substitution C T intron_variant PAEN-IT 5 171882582 171882582 single base substitution C G upstream_gene_variant PBCA-DE 5 171762378 171762378 single base substitution G A 3_prime_UTR_variant PBCA-DE 5 171762378 171762378 single base substitution G A intron_variant PBCA-DE 5 171762378 171762378 single base substitution G A upstream_gene_variant PBCA-DE 5 171774896 171774896 single base substitution C T intron_variant PBCA-DE 5 171779785 171779785 single base substitution G A intron_variant PBCA-DE 5 171779785 171779785 single base substitution G A upstream_gene_variant PBCA-DE 5 171793626 171793626 deletion of <=200bp T - intron_variant PBCA-DE 5 171794715 171794715 single base substitution G A intron_variant PBCA-DE 5 171800897 171800897 single base substitution A G intron_variant PBCA-DE 5 171806362 171806363 deletion of <=200bp TC - intron_variant PBCA-DE 5 171808930 171808930 single base substitution C T intron_variant PBCA-DE 5 171809561 171809562 deletion of <=200bp AC - intron_variant PBCA-DE 5 171830381 171830381 single base substitution G C intron_variant PBCA-DE 5 171832608 171832608 single base substitution C T intron_variant PBCA-DE 5 171833623 171833623 single base substitution T A intron_variant PBCA-DE 5 171833752 171833752 single base substitution C T intron_variant PBCA-DE 5 171836382 171836382 single base substitution G A intron_variant PBCA-DE 5 171836420 171836420 single base substitution C T intron_variant PBCA-DE 5 171838865 171838865 single base substitution G A intron_variant PBCA-DE 5 171841199 171841199 single base substitution G A intron_variant PBCA-DE 5 171853086 171853086 insertion of <=200bp - A intron_variant PBCA-DE 5 171858150 171858150 single base substitution C T intron_variant PBCA-DE 5 171864677 171864677 deletion of <=200bp T - intron_variant PBCA-DE 5 171867767 171867767 single base substitution C A intron_variant PBCA-DE 5 171881873 171881873 single base substitution C A upstream_gene_variant PBCA-DE 5 171882105 171882105 single base substitution A G upstream_gene_variant PRAD-CA 5 171775683 171775683 single base substitution C T intron_variant PRAD-CA 5 171775707 171775707 single base substitution C T intron_variant PRAD-CA 5 171775711 171775711 single base substitution C T intron_variant PRAD-CA 5 171790907 171790907 single base substitution T C intron_variant PRAD-CA 5 171803075 171803075 single base substitution G A intron_variant PRAD-CA 5 171862653 171862653 single base substitution C A intron_variant PRAD-CA 5 171866698 171866698 single base substitution A G intron_variant PRAD-CA 5 171876751 171876751 single base substitution G C intron_variant PRAD-UK 5 171754611 171754611 single base substitution T C intron_variant PRAD-UK 5 171759414 171759414 single base substitution C T downstream_gene_variant PRAD-UK 5 171759414 171759414 single base substitution C T intron_variant PRAD-UK 5 171770649 171770649 single base substitution A G intron_variant PRAD-UK 5 171775464 171775464 single base substitution A C intron_variant PRAD-UK 5 171788907 171788907 deletion of <=200bp G - intron_variant PRAD-UK 5 171811953 171811953 single base substitution T G intron_variant PRAD-UK 5 171826427 171826427 single base substitution T C intron_variant PRAD-UK 5 171834353 171834353 single base substitution T A intron_variant PRAD-UK 5 171838095 171838095 single base substitution T C intron_variant PRAD-UK 5 171838275 171838275 single base substitution G A intron_variant PRAD-UK 5 171842447 171842447 single base substitution G A intron_variant PRAD-UK 5 171846553 171846553 single base substitution G C intron_variant PRAD-UK 5 171859992 171859993 deletion of <=200bp AC - intron_variant PRAD-UK 5 171860346 171860346 single base substitution C T intron_variant PRAD-UK 5 171885279 171885279 insertion of <=200bp - T upstream_gene_variant PRAD-US 5 171821588 171821588 single base substitution T G synonymous_variant I96I 288A>C READ-US 5 171766236 171766236 single base substitution C T intron_variant READ-US 5 171766236 171766236 single base substitution C T missense_variant E625K 1873G>A READ-US 5 171766236 171766236 single base substitution C T upstream_gene_variant READ-US 5 171766670 171766670 single base substitution G A intron_variant READ-US 5 171766670 171766670 single base substitution G A missense_variant S480L 1439C>T READ-US 5 171789795 171789795 single base substitution G A missense_variant S169L 506C>T RECA-CN 5 171766365 171766365 single base substitution G A intron_variant RECA-CN 5 171766365 171766365 single base substitution G A missense_variant P582S 1744C>T RECA-EU 5 171747321 171747321 single base substitution G A downstream_gene_variant RECA-EU 5 171760436 171760436 single base substitution C T downstream_gene_variant RECA-EU 5 171760436 171760436 single base substitution C T intron_variant RECA-EU 5 171778442 171778442 single base substitution T A intron_variant RECA-EU 5 171778442 171778442 single base substitution T A upstream_gene_variant RECA-EU 5 171788529 171788529 single base substitution C A intron_variant RECA-EU 5 171792400 171792400 single base substitution T A intron_variant RECA-EU 5 171792692 171792692 single base substitution C A intron_variant RECA-EU 5 171804511 171804511 single base substitution T A intron_variant RECA-EU 5 171805102 171805102 single base substitution C T intron_variant RECA-EU 5 171818367 171818367 single base substitution C T intron_variant RECA-EU 5 171819105 171819105 single base substitution C T intron_variant RECA-EU 5 171830133 171830133 single base substitution G T intron_variant RECA-EU 5 171838119 171838119 single base substitution T G intron_variant RECA-EU 5 171840514 171840514 single base substitution G T intron_variant RECA-EU 5 171859446 171859446 single base substitution A C intron_variant RECA-EU 5 171862466 171862466 single base substitution C A intron_variant RECA-EU 5 171869848 171869848 single base substitution T C intron_variant RECA-EU 5 171870455 171870455 single base substitution C A intron_variant RECA-EU 5 171873413 171873413 single base substitution C T intron_variant RECA-EU 5 171875118 171875118 single base substitution A G intron_variant RECA-EU 5 171876281 171876281 single base substitution T C intron_variant SKCA-BR 5 171748382 171748382 single base substitution G T downstream_gene_variant SKCA-BR 5 171748864 171748864 single base substitution C T downstream_gene_variant SKCA-BR 5 171749325 171749325 single base substitution G A downstream_gene_variant SKCA-BR 5 171750668 171750668 single base substitution C T downstream_gene_variant SKCA-BR 5 171752855 171752855 single base substitution G A intron_variant SKCA-BR 5 171755065 171755065 single base substitution G A intron_variant SKCA-BR 5 171755863 171755863 single base substitution G A downstream_gene_variant SKCA-BR 5 171755863 171755863 single base substitution G A intron_variant SKCA-BR 5 171755902 171755902 single base substitution G A downstream_gene_variant SKCA-BR 5 171755902 171755902 single base substitution G A intron_variant SKCA-BR 5 171756038 171756038 insertion of <=200bp - TATATATAC downstream_gene_variant SKCA-BR 5 171756038 171756038 insertion of <=200bp - TATATATAC intron_variant SKCA-BR 5 171756042 171756042 insertion of <=200bp - TATAC downstream_gene_variant SKCA-BR 5 171756042 171756042 insertion of <=200bp - TATAC intron_variant SKCA-BR 5 171756053 171756053 single base substitution G A downstream_gene_variant SKCA-BR 5 171756053 171756053 single base substitution G A intron_variant SKCA-BR 5 171756089 171756089 single base substitution T A downstream_gene_variant SKCA-BR 5 171756089 171756089 single base substitution T A intron_variant SKCA-BR 5 171760428 171760428 single base substitution T C downstream_gene_variant SKCA-BR 5 171760428 171760428 single base substitution T C intron_variant SKCA-BR 5 171762575 171762575 single base substitution A G 3_prime_UTR_variant SKCA-BR 5 171762575 171762575 single base substitution A G intron_variant SKCA-BR 5 171762575 171762575 single base substitution A G upstream_gene_variant SKCA-BR 5 171767237 171767237 single base substitution G A intron_variant SKCA-BR 5 171768628 171768628 single base substitution C T intron_variant SKCA-BR 5 171769357 171769357 single base substitution G A intron_variant SKCA-BR 5 171769402 171769402 single base substitution G A intron_variant SKCA-BR 5 171770356 171770356 single base substitution G A intron_variant SKCA-BR 5 171773332 171773332 single base substitution A G intron_variant SKCA-BR 5 171775642 171775646 deletion of <=200bp GTATC - intron_variant SKCA-BR 5 171775667 171775667 single base substitution C G intron_variant SKCA-BR 5 171777815 171777815 single base substitution C T intron_variant SKCA-BR 5 171777815 171777815 single base substitution C T upstream_gene_variant SKCA-BR 5 171784102 171784102 single base substitution A G intron_variant SKCA-BR 5 171785702 171785702 single base substitution A G intron_variant SKCA-BR 5 171786697 171786697 single base substitution G A intron_variant SKCA-BR 5 171793958 171793958 single base substitution G T intron_variant SKCA-BR 5 171794384 171794389 deletion of <=200bp CTCTCA - intron_variant SKCA-BR 5 171794387 171794387 single base substitution T G intron_variant SKCA-BR 5 171794393 171794394 deletion of <=200bp GT - intron_variant SKCA-BR 5 171795518 171795520 deletion of <=200bp AAT - intron_variant SKCA-BR 5 171795536 171795536 insertion of <=200bp - AT intron_variant SKCA-BR 5 171799804 171799804 single base substitution C T intron_variant SKCA-BR 5 171800584 171800604 deletion of <=200bp GCATCCATCCATCCATCCATC - intron_variant SKCA-BR 5 171801463 171801463 single base substitution A G intron_variant SKCA-BR 5 171801552 171801552 single base substitution G A intron_variant SKCA-BR 5 171806901 171806901 single base substitution C T intron_variant SKCA-BR 5 171806909 171806909 single base substitution G A intron_variant SKCA-BR 5 171807768 171807768 single base substitution A T intron_variant SKCA-BR 5 171810630 171810630 single base substitution T G intron_variant SKCA-BR 5 171810631 171810631 single base substitution G T intron_variant SKCA-BR 5 171813404 171813404 single base substitution G A intron_variant SKCA-BR 5 171813589 171813589 insertion of <=200bp - GTTTTTAT intron_variant SKCA-BR 5 171821218 171821218 single base substitution G A intron_variant SKCA-BR 5 171821989 171821989 single base substitution G A intron_variant SKCA-BR 5 171822456 171822456 single base substitution C T intron_variant SKCA-BR 5 171824141 171824141 single base substitution G A intron_variant SKCA-BR 5 171824792 171824792 single base substitution G A intron_variant SKCA-BR 5 171826519 171826519 single base substitution G A intron_variant SKCA-BR 5 171826830 171826830 single base substitution C T intron_variant SKCA-BR 5 171829317 171829317 single base substitution A G intron_variant SKCA-BR 5 171829644 171829644 single base substitution G A intron_variant SKCA-BR 5 171833292 171833292 single base substitution G A missense_variant P74L 221C>T SKCA-BR 5 171835347 171835347 single base substitution C T intron_variant SKCA-BR 5 171837769 171837769 single base substitution A C intron_variant SKCA-BR 5 171841575 171841575 single base substitution G A intron_variant SKCA-BR 5 171842019 171842019 single base substitution G A intron_variant SKCA-BR 5 171844150 171844150 single base substitution T A intron_variant SKCA-BR 5 171845519 171845519 single base substitution T A intron_variant SKCA-BR 5 171851601 171851601 single base substitution G A intron_variant SKCA-BR 5 171853042 171853042 single base substitution G A intron_variant SKCA-BR 5 171855461 171855461 single base substitution A C intron_variant SKCA-BR 5 171855610 171855610 single base substitution G A intron_variant SKCA-BR 5 171856318 171856318 single base substitution A C intron_variant SKCA-BR 5 171859258 171859258 single base substitution A G intron_variant SKCA-BR 5 171859929 171859932 deletion of <=200bp AGGG - intron_variant SKCA-BR 5 171862099 171862099 single base substitution C T intron_variant SKCA-BR 5 171862862 171862862 single base substitution G A intron_variant SKCA-BR 5 171865691 171865691 insertion of <=200bp - CA intron_variant SKCA-BR 5 171865731 171865731 single base substitution G A intron_variant SKCA-BR 5 171865792 171865792 single base substitution G A intron_variant SKCA-BR 5 171866254 171866255 deletion of <=200bp AG - intron_variant SKCA-BR 5 171866258 171866297 deletion of <=200bp AAAAAAAAAACAAAAACAAAAACAAAACAAAAAAAAAACC - intron_variant SKCA-BR 5 171866280 171866280 single base substitution C A intron_variant SKCA-BR 5 171866292 171866297 deletion of <=200bp AAAACC - intron_variant SKCA-BR 5 171866295 171866297 deletion of <=200bp ACC - intron_variant SKCA-BR 5 171866296 171866296 single base substitution C A intron_variant SKCA-BR 5 171866301 171866301 single base substitution A G intron_variant SKCA-BR 5 171866346 171866346 single base substitution C T intron_variant SKCA-BR 5 171866688 171866688 single base substitution A G intron_variant SKCA-BR 5 171866692 171866692 single base substitution G A intron_variant SKCA-BR 5 171866694 171866694 single base substitution G A intron_variant SKCA-BR 5 171866696 171866696 single base substitution G A intron_variant SKCA-BR 5 171866840 171866843 deletion of <=200bp CCGA - intron_variant SKCA-BR 5 171867915 171867915 single base substitution T A intron_variant SKCA-BR 5 171867916 171867916 single base substitution C T intron_variant SKCA-BR 5 171871761 171871761 single base substitution C A intron_variant SKCA-BR 5 171874891 171874891 single base substitution T G intron_variant SKCA-BR 5 171874911 171874911 single base substitution G A intron_variant SKCA-BR 5 171875206 171875206 single base substitution A C intron_variant SKCA-BR 5 171879523 171879523 single base substitution C T intron_variant SKCA-BR 5 171881006 171881006 single base substitution A G intron_variant SKCA-BR 5 171881523 171881523 single base substitution G C 5_prime_UTR_variant SKCA-BR 5 171881523 171881523 single base substitution G C upstream_gene_variant SKCA-BR 5 171881667 171881667 single base substitution A C upstream_gene_variant SKCA-BR 5 171884196 171884196 single base substitution G A upstream_gene_variant SKCA-BR 5 171884423 171884423 single base substitution C T upstream_gene_variant SKCM-US 5 171765398 171765398 single base substitution G A intron_variant SKCM-US 5 171765398 171765398 single base substitution G A missense_variant S904F 2711C>T SKCM-US 5 171765398 171765398 single base substitution G A upstream_gene_variant SKCM-US 5 171765709 171765709 single base substitution G A intron_variant SKCM-US 5 171765709 171765709 single base substitution G A synonymous_variant V800V 2400C>T SKCM-US 5 171765709 171765709 single base substitution G A upstream_gene_variant SKCM-US 5 171765837 171765837 single base substitution G A intron_variant SKCM-US 5 171765837 171765837 single base substitution G A missense_variant P758S 2272C>T SKCM-US 5 171765837 171765837 single base substitution G A upstream_gene_variant SKCM-US 5 171765926 171765926 single base substitution G A intron_variant SKCM-US 5 171765926 171765926 single base substitution G A missense_variant A728V 2183C>T SKCM-US 5 171765926 171765926 single base substitution G A upstream_gene_variant SKCM-US 5 171765958 171765958 single base substitution A G intron_variant SKCM-US 5 171765958 171765958 single base substitution A G synonymous_variant D717D 2151T>C SKCM-US 5 171765958 171765958 single base substitution A G upstream_gene_variant SKCM-US 5 171766218 171766218 single base substitution G A intron_variant SKCM-US 5 171766218 171766218 single base substitution G A missense_variant P631S 1891C>T SKCM-US 5 171766218 171766218 single base substitution G A upstream_gene_variant SKCM-US 5 171766262 171766262 single base substitution G A intron_variant SKCM-US 5 171766262 171766262 single base substitution G A missense_variant S616F 1847C>T SKCM-US 5 171766268 171766268 single base substitution G A intron_variant SKCM-US 5 171766268 171766268 single base substitution G A missense_variant P614L 1841C>T SKCM-US 5 171766297 171766297 single base substitution G A intron_variant SKCM-US 5 171766297 171766297 single base substitution G A synonymous_variant A604A 1812C>T SKCM-US 5 171766376 171766376 single base substitution G A intron_variant SKCM-US 5 171766376 171766376 single base substitution G A missense_variant P578L 1733C>T SKCM-US 5 171766709 171766709 single base substitution G A intron_variant SKCM-US 5 171766709 171766709 single base substitution G A missense_variant S467F 1400C>T SKCM-US 5 171773190 171773190 single base substitution G A stop_gained Q380* 1138C>T SKCM-US 5 171773190 171773190 single base substitution G A stop_gained Q50* 148C>T SKCM-US 5 171833335 171833335 single base substitution G A missense_variant P60S 178C>T STAD-US 5 171765430 171765430 single base substitution G A intron_variant STAD-US 5 171765430 171765430 single base substitution G A synonymous_variant S893S 2679C>T STAD-US 5 171765430 171765430 single base substitution G A upstream_gene_variant STAD-US 5 171765730 171765730 single base substitution G A intron_variant STAD-US 5 171765730 171765730 single base substitution G A synonymous_variant T793T 2379C>T STAD-US 5 171765730 171765730 single base substitution G A upstream_gene_variant STAD-US 5 171765831 171765831 insertion of <=200bp - G frameshift_variant R760P? STAD-US 5 171765831 171765831 insertion of <=200bp - G intron_variant STAD-US 5 171765831 171765831 insertion of <=200bp - G upstream_gene_variant STAD-US 5 171766016 171766016 single base substitution C T intron_variant STAD-US 5 171766016 171766016 single base substitution C T missense_variant R698Q 2093G>A STAD-US 5 171766016 171766016 single base substitution C T upstream_gene_variant STAD-US 5 171766334 171766334 deletion of <=200bp T - frameshift_variant N592 STAD-US 5 171766334 171766334 deletion of <=200bp T - intron_variant STAD-US 5 171766472 171766472 single base substitution G A intron_variant STAD-US 5 171766472 171766472 single base substitution G A missense_variant T546M 1637C>T STAD-US 5 171766816 171766816 single base substitution C T intron_variant STAD-US 5 171766816 171766816 single base substitution C T synonymous_variant A431A 1293G>A STAD-US 5 171766824 171766824 single base substitution T C intron_variant STAD-US 5 171766824 171766824 single base substitution T C missense_variant S429G 1285A>G STAD-US 5 171766919 171766919 single base substitution A G intron_variant STAD-US 5 171766919 171766919 single base substitution A G missense_variant V397A 1190T>C STAD-US 5 171774309 171774309 deletion of <=200bp G - frameshift_variant P17 STAD-US 5 171774309 171774309 deletion of <=200bp G - frameshift_variant P347 STAD-US 5 171777377 171777377 single base substitution G A synonymous_variant D334D 1002C>T STAD-US 5 171777377 171777377 single base substitution G A synonymous_variant D4D 12C>T STAD-US 5 171777412 171777412 single base substitution C A missense_variant G323W 967G>T STAD-US 5 171777412 171777412 single base substitution C A upstream_gene_variant STAD-US 5 171781005 171781007 deletion of <=200bp CTC - splice_region_variant STAD-US 5 171781005 171781007 deletion of <=200bp CTC - upstream_gene_variant STAD-US 5 171785810 171785810 deletion of <=200bp C - frameshift_variant V212 STAD-US 5 171821626 171821626 single base substitution G A stop_gained R84* 250C>T STAD-US 5 171833291 171833291 deletion of <=200bp G - frameshift_variant P74 THCA-SA 5 171765079 171765079 single base substitution G T 3_prime_UTR_variant THCA-SA 5 171765079 171765079 single base substitution G T intron_variant THCA-SA 5 171765079 171765079 single base substitution G T upstream_gene_variant UCEC-US 5 171765538 171765538 single base substitution G A intron_variant UCEC-US 5 171765538 171765538 single base substitution G A synonymous_variant A857A 2571C>T UCEC-US 5 171765538 171765538 single base substitution G A upstream_gene_variant UCEC-US 5 171765883 171765883 single base substitution G A intron_variant UCEC-US 5 171765883 171765883 single base substitution G A synonymous_variant S742S 2226C>T UCEC-US 5 171765883 171765883 single base substitution G A upstream_gene_variant UCEC-US 5 171766621 171766621 single base substitution C T intron_variant UCEC-US 5 171766621 171766621 single base substitution C T synonymous_variant R496R 1488G>A UCEC-US 5 171766897 171766897 single base substitution G T intron_variant UCEC-US 5 171766897 171766897 single base substitution G T synonymous_variant G404G 1212C>A UCEC-US 5 171821625 171821625 single base substitution C T missense_variant R84Q 251G>A UCEC-US 5 171833281 171833281 single base substitution C A missense_variant G78C 232G>T UCEC-US 5 171833330 171833330 single base substitution C T missense_variant M61I 183G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand GC_315T-GC_315N COSM4773783 c.2316C>T p.S772S Substitution - coding silent 5:172338789-172338789 - CLN2 COSM5024782 c.1815G>T p.K605N Substitution - Missense 5:172339290-172339290 - TCGA-F4-6856-01 COSM1436044 c.851C>T p.P284L Substitution - Missense 5:172350524-172350524 - LUAD-74TBW COSM355256 c.1403G>T p.R468L Substitution - Missense 5:172339702-172339702 - PDA_080 COSM5002436 c.967G>A p.G323R Substitution - Missense 5:172350408-172350408 - TCGA-GD-A3OP-01 COSM1310967 c.2124C>T p.R708R Substitution - coding silent 5:172338981-172338981 - TCGA-EI-6917-01 COSM3429287 c.506C>T p.S169L Substitution - Missense 5:172362791-172362791 - Pat_06_A COSM5868171 c.1648C>T p.R550W Substitution - Missense 5:172339457-172339457 - CRC-03T COSM5451825 c.1707C>A p.I569I Substitution - coding silent 5:172339398-172339398 - TCGA-IR-A3LA-01 COSM4844666 c.2219C>G p.S740C Substitution - Missense 5:172338886-172338886 - T3479 COSM1065857 c.2226C>T p.S742S Substitution - coding silent 5:172338879-172338879 - TCGA-FW-A3TU-06 COSM3614188 c.2400C>T p.V800V Substitution - coding silent 5:172338705-172338705 - TCGA-CD-A4MJ-01 COSM3853738 c.2093G>A p.R698Q Substitution - Missense 5:172339012-172339012 - H322T COSM1194925 c.578G>T p.S193I Substitution - Missense 5:172358862-172358862 - ESCC_151 COSM5645252 c.1027A>T p.R343W Substitution - Missense 5:172347318-172347318 - PDA_080 COSM5002427 c.2440G>A p.G814S Substitution - Missense 5:172338665-172338665 - ME007T COSM222475 c.2533C>T p.P845S Substitution - Missense 5:172338572-172338572 - K38-Tumor COSM249695 c.1744C>T p.P582S Substitution - Missense 5:172339361-172339361 - 587376 COSM1225585 c.123T>G p.I41M Substitution - Missense 5:172422449-172422449 - Toledo COSM1581730 c.1615C>T p.R539W Substitution - Missense 5:172339490-172339490 - CSCC-11-T COSM4507691 c.753C>T p.I251I Substitution - coding silent 5:172353920-172353920 - TCGA-EE-A181-06 COSM3614197 c.178C>T p.P60S Substitution - Missense 5:172406331-172406331 - H460 COSM1196898 c.2293C>T p.P765S Substitution - Missense 5:172338812-172338812 - HN_63039 COSM121835 c.1527G>A p.E509E Substitution - coding silent 5:172339578-172339578 - YUKSI COSM5403086 c.2443C>T p.Q815* Substitution - Nonsense 5:172338662-172338662 - 721LT COSM369095 c.1403G>A p.R468Q Substitution - Missense 5:172339702-172339702 - TCGA-IR-A3LL-01 COSM4850064 c.1309C>T p.L437L Substitution - coding silent 5:172339796-172339796 - LUAD-NYU1093 COSM369095 c.1403G>A p.R468Q Substitution - Missense 5:172339702-172339702 - TCGA-AP-A059-01 COSM1065861 c.232G>T p.G78C Substitution - Missense 5:172406277-172406277 - TCGA-A8-A07C-01 COSM449329 c.2126C>T p.A709V Substitution - Missense 5:172338979-172338979 - PT33 COSM5908570 c.2528C>T p.S843F Substitution - Missense 5:172338577-172338577 - Gp5D COSM3339676 c.2507G>A p.R836K Substitution - Missense 5:172338598-172338598 - PT36 COSM5915461 c.1660C>T p.P554S Substitution - Missense 5:172339445-172339445 - UM-SCC-11B COSM4597712 c.1414delG p.D472fs*24 Deletion - Frameshift 5:172339691-172339691 - YUWAND COSM1696758 c.2401C>T p.P801S Substitution - Missense 5:172338704-172338704 - TCGA-BH-A18V-06 COSM3827691 c.2587G>A p.G863R Substitution - Missense 5:172338518-172338518 - TCGA-GN-A26C-01 COSM3614194 c.1733C>T p.P578L Substitution - Missense 5:172339372-172339372 - BN03T COSM3747624 c.59T>G p.V20G Substitution - Missense 5:172454294-172454294 - 2521259 COSM5890142 c.2342C>T p.P781L Substitution - Missense 5:172338763-172338763 - TCGA-IH-A3EA-01 COSM3614192 c.1841C>T p.P614L Substitution - Missense 5:172339264-172339264 - sysucc-1370T COSM1310969 c.1083G>A p.P361P Substitution - coding silent 5:172346241-172346241 - ccRCC-70 COSM1664152 c.2551A>C p.K851Q Substitution - Missense 5:172338554-172338554 - CSCC-10-T COSM4346959 c.2487C>T p.T829T Substitution - coding silent 5:172338618-172338618 - 244-05-1TD COSM5417152 c.1126A>T p.I376F Substitution - Missense 5:172346198-172346198 - TCGA-B6-A0RH-01 COSM449331 c.1680T>G p.I560M Substitution - Missense 5:172339425-172339425 - 545 COSM5612755 c.632G>T p.G211V Substitution - Missense 5:172358808-172358808 - PCSI_0287_Pa_P_526 COSM4807384 c.675G>A p.K225K Substitution - coding silent 5:172353998-172353998 - CSCC-11-T COSM4512074 c.890C>T p.A297V Substitution - Missense 5:172350485-172350485 - QC2-36-T2 COSM5655244 c.1504A>C p.M502L Substitution - Missense 5:172339601-172339601 - PCSI_0080_Pa_X COSM3381197 c.1089G>A p.P363P Substitution - coding silent 5:172346235-172346235 - YULOCUS COSM3339681 c.2241C>T p.L747L Substitution - coding silent 5:172338864-172338864 - NCI-H322M COSM1194925 c.578G>T p.S193I Substitution - Missense 5:172358862-172358862 - TCGA-G4-6628-01 COSM1310967 c.2124C>T p.R708R Substitution - coding silent 5:172338981-172338981 - CSCC-10-T COSM4481690 c.2532C>T p.V844V Substitution - coding silent 5:172338573-172338573 - TCGA-66-2795-01 COSM737698 c.212G>T p.R71L Substitution - Missense 5:172406297-172406297 - ESCC_21 COSM5626299 c.1446G>A p.L482L Substitution - coding silent 5:172339659-172339659 - CSCC-35-T COSM4539058 c.2638G>T p.E880* Substitution - Nonsense 5:172338467-172338467 - ESO-H01 COSM1265502 c.1596G>A p.S532S Substitution - coding silent 5:172339509-172339509 - 2521259 COSM5890143 c.2341C>T p.P781S Substitution - Missense 5:172338764-172338764 - STC252 COSM5060941 c.1832A>G p.N611S Substitution - Missense 5:172339273-172339273 - TCGA-24-1418-01 COSM76409 c.814G>T p.A272S Substitution - Missense 5:172350561-172350561 - TCGA-AP-A059-01 COSM1065859 c.1212C>A p.G404G Substitution - coding silent 5:172339893-172339893 - SW1463 COSM4655128 c.1441G>A p.G481R Substitution - Missense 5:172339664-172339664 - Pat_41_B COSM3614197 c.178C>T p.P60S Substitution - Missense 5:172406331-172406331 - Pat_41_A COSM3614197 c.178C>T p.P60S Substitution - Missense 5:172406331-172406331 - TCGA-F5-6814-01 COSM3429287 c.506C>T p.S169L Substitution - Missense 5:172362791-172362791 - TCGA-FW-A3R5-06 COSM3919697 c.2272C>T p.P758S Substitution - Missense 5:172338833-172338833 - KM12 COSM3339716 c.966C>T p.D322D Substitution - coding silent 5:172350409-172350409 - ESCC_27 COSM5627254 c.2322G>A p.P774P Substitution - coding silent 5:172338783-172338783 - TCGA-GN-A266-06 COSM3614191 c.1847C>T p.S616F Substitution - Missense 5:172339258-172339258 - TCGA-AA-3510-01 COSM3696842 c.1157G>A p.G386D Substitution - Missense 5:172346167-172346167 - TCGA-BR-8382-01 COSM3853744 c.250C>T p.R84* Substitution - Nonsense 5:172394622-172394622 - CHC1754T COSM4792758 c.983G>T p.R328L Substitution - Missense 5:172350392-172350392 - T84 COSM3339688 c.2062G>T p.A688S Substitution - Missense 5:172339043-172339043 - CSCC-29-T COSM4529236 c.1597G>A p.E533K Substitution - Missense 5:172339508-172339508 - TCGA-FT-A3EE-01 COSM1310969 c.1083G>A p.P361P Substitution - coding silent 5:172346241-172346241 - MO_1012 COSM5562620 c.1558C>T p.P520S Substitution - Missense 5:172339547-172339547 - CHC1754T COSM4792758 c.983G>T p.R328L Substitution - Missense 5:172350392-172350392 - TCGA-EI-6883-01 COSM3429285 c.1873G>A p.E625K Substitution - Missense 5:172339232-172339232 - Pat_41_B COSM3696842 c.1157G>A p.G386D Substitution - Missense 5:172346167-172346167 - pfg344T COSM4763567 c.710A>G p.Q237R Substitution - Missense 5:172353963-172353963 - CSCC-27-T COSM4479971 c.2376C>T p.P792P Substitution - coding silent 5:172338729-172338729 - YUKAT COSM5403087 c.1194C>T p.I398I Substitution - coding silent 5:172339911-172339911 - HCT-116 COSM1672130 c.2386C>T p.R796C Substitution - Missense 5:172338719-172338719 - C089 COSM5543434 c.2696A>G p.E899G Substitution - Missense 5:172338409-172338409 - S00936 COSM208058 c.1129G>A p.A377T Substitution - Missense 5:172346195-172346195 - 46M COSM5588918 c.1401C>T p.S467S Substitution - coding silent 5:172339704-172339704 - 12_tFL COSM4171390 c.1573C>T p.R525W Substitution - Missense 5:172339532-172339532 - OSCC-GB_00960111 COSM4885595 c.1003G>A p.A335T Substitution - Missense 5:172350372-172350372 - TCGA-F5-6814-01 COSM3429286 c.1439C>T p.S480L Substitution - Missense 5:172339666-172339666 - TCGA-DK-A1AD-01 COSM1310968 c.1327G>A p.E443K Substitution - Missense 5:172339778-172339778 - SW480 COSM4655940 c.1429G>T p.V477F Substitution - Missense 5:172339676-172339676 - TCGA-66-2785-01 COSM737702 c.2492A>G p.K831R Substitution - Missense 5:172338613-172338613 - LUAD_E00565 COSM389542 c.454A>G p.M152V Substitution - Missense 5:172362843-172362843 - TCGA-AA-3672-01 COSM267418 c.1621C>T p.R541W Substitution - Missense 5:172339484-172339484 - TCGA-BR-7901-01 COSM3853741 c.1285A>G p.S429G Substitution - Missense 5:172339820-172339820 - TCGA-DG-A2KL-01 COSM4851494 c.976G>C p.E326Q Substitution - Missense 5:172350399-172350399 - BD183T COSM5508050 c.2202G>C p.K734N Substitution - Missense 5:172338903-172338903 - TCGA-D3-A2JH-06 COSM3614193 c.1812C>T p.A604A Substitution - coding silent 5:172339293-172339293 - TCGA-CJ-4918-01 COSM482522 c.704G>T p.R235L Substitution - Missense 5:172353969-172353969 - 084T COSM1731116 c.849G>T p.L283F Substitution - Missense 5:172350526-172350526 - TCGA-24-1845-01 COSM1328907 c.1761G>T p.L587L Substitution - coding silent 5:172339344-172339344 - B71 COSM1310968 c.1327G>A p.E443K Substitution - Missense 5:172339778-172339778 - 116 COSM5011550 c.2453C>T p.T818M Substitution - Missense 5:172338652-172338652 - PCSI_0240_Pa_P_526 COSM4965594 c.1939G>A p.A647T Substitution - Missense 5:172339166-172339166 - CSCC-10-T COSM4481917 c.2558C>T p.S853F Substitution - Missense 5:172338547-172338547 - TCGA-G4-6304-01 COSM3761109 c.105C>T p.S35S Substitution - coding silent 5:172422467-172422467 - CSCC-41-T COSM4483337 c.2690C>T p.S897F Substitution - Missense 5:172338415-172338415 - TCGA-HU-A4GQ-01 COSM3853739 c.1637C>T p.T546M Substitution - Missense 5:172339468-172339468 - TCGA-AG-A002-01 COSM263639 c.2326C>A p.P776T Substitution - Missense 5:172338779-172338779 - PD7302a COSM1638362 c.1290C>T p.N430N Substitution - coding silent 5:172339815-172339815 - CSCC-27-T COSM4457965 c.1066C>T p.R356* Substitution - Nonsense 5:172346258-172346258 - C91 COSM4445011 c.1292C>T p.A431V Substitution - Missense 5:172339813-172339813 - 1N46-VS-1T46 COSM4976135 c.1380C>T p.G460G Substitution - coding silent 5:172339725-172339725 - T636 COSM4725695 c.927G>A p.A309A Substitution - coding silent 5:172350448-172350448 - TCGA-BR-4184-01 COSM3339713 c.1002C>T p.D334D Substitution - coding silent 5:172350373-172350373 - TCGA-HU-A4GU-01 COSM3853736 c.2679C>T p.S893S Substitution - coding silent 5:172338426-172338426 - 1920_T COSM3947277 c.1449A>G p.P483P Substitution - coding silent 5:172339656-172339656 - CSCC-20-T COSM4465915 c.1406C>T p.P469L Substitution - Missense 5:172339699-172339699 - sysucc-1370T COSM5472071 c.1713A>G p.P571P Substitution - coding silent 5:172339392-172339392 - CSCC-31-T COSM4473212 c.1836C>T p.L612L Substitution - coding silent 5:172339269-172339269 - NCI-H460 COSM1196898 c.2293C>T p.P765S Substitution - Missense 5:172338812-172338812 - TCGA-AD-5900-01 COSM1436043 c.925G>A p.A309T Substitution - Missense 5:172350450-172350450 - TCGA-HR-A2OG-01 COSM3614195 c.1575G>A p.R525R Substitution - coding silent 5:172339530-172339530 - LUAD-CHTN-Z4716A COSM362427 c.329C>A p.P110H Substitution - Missense 5:172382108-172382108 - TCGA-D8-A1JG-01 COSM1486604 c.2019C>G p.A673A Substitution - coding silent 5:172339086-172339086 - TCGA-CG-5721-01 COSM3853740 c.1293G>A p.A431A Substitution - coding silent 5:172339812-172339812 - TCGA-D8-A1XK-01 COSM3827693 c.364T>C p.F122L Substitution - Missense 5:172382073-172382073 - TCGA-FW-A3R5-06 COSM3919698 c.1400C>T p.S467F Substitution - Missense 5:172339705-172339705 - DLBCL800 COSM1581732 c.350A>C p.E117A Substitution - Missense 5:172382087-172382087 - T3094 COSM4725696 c.926C>T p.A309V Substitution - Missense 5:172350449-172350449 - TCGA-G2-A2EC-01 COSM1310969 c.1083G>A p.P361P Substitution - coding silent 5:172346241-172346241 - PT36 COSM5915460 c.1661C>T p.P554L Substitution - Missense 5:172339444-172339444 - TCGA-25-1313-01 COSM72627 c.2012G>C p.R671T Substitution - Missense 5:172339093-172339093 - TCGA-B0-5085-01 COSM482523 c.430G>A p.G144S Substitution - Missense 5:172362867-172362867 - TCGA-EE-A2MJ-06 COSM3614196 c.1138C>T p.Q380* Substitution - Nonsense 5:172346186-172346186 - ASHPC_0018_Pa_P COSM3786916 c.156+1G>A p.? Unknown 5:172422415-172422415 - pfg024T COSM1642677 c.2295A>G p.P765P Substitution - coding silent 5:172338810-172338810 - TCGA-AN-A0XS-01 COSM449332 c.1464G>T p.W488C Substitution - Missense 5:172339641-172339641 - CHC892T COSM4798145 c.2439G>A p.G813G Substitution - coding silent 5:172338666-172338666 - YULLON COSM1696759 c.1901C>T p.P634L Substitution - Missense 5:172339204-172339204 - GC10_T COSM150015 c.1277A>C p.K426T Substitution - Missense 5:172339828-172339828 - CSCC-55-T COSM4476902 c.2105C>T p.P702L Substitution - Missense 5:172339000-172339000 - TCGA-EJ-5527-01 COSM1132207 c.288A>C p.I96I Substitution - coding silent 5:172394584-172394584 - PT42 COSM5925220 c.2185C>T p.P729S Substitution - Missense 5:172338920-172338920 - CSCC-31-T COSM4478099 c.220C>T p.P74S Substitution - Missense 5:172406289-172406289 - HCT116 COSM1672130 c.2386C>T p.R796C Substitution - Missense 5:172338719-172338719 - ESCC_BICR_061T COSM3339716 c.966C>T p.D322D Substitution - coding silent 5:172350409-172350409 - TCGA-BR-6852-01 COSM3853743 c.967G>T p.G323W Substitution - Missense 5:172350408-172350408 - PD7219a COSM5792774 c.336C>G p.I112M Substitution - Missense 5:172382101-172382101 - ME024T COSM226152 c.1675G>A p.V559M Substitution - Missense 5:172339430-172339430 - K38 COSM249695 c.1744C>T p.P582S Substitution - Missense 5:172339361-172339361 - DLBCL783 COSM1581731 c.814G>A p.A272T Substitution - Missense 5:172350561-172350561 - SC_9047 COSM5566360 c.1616G>A p.R539Q Substitution - Missense 5:172339489-172339489 - HT115 COSM3339727 c.268G>A p.V90M Substitution - Missense 5:172394604-172394604 - CSCC-31-T COSM4552197 c.552G>A p.K184K Substitution - coding silent 5:172362745-172362745 - TCGA-HU-A4G8-01 COSM3853742 c.1190T>C p.V397A Substitution - Missense 5:172339915-172339915 - 63 COSM5742538 c.877T>C p.S293P Substitution - Missense 5:172350498-172350498 - PT48 COSM3919698 c.1400C>T p.S467F Substitution - Missense 5:172339705-172339705 - TCGA-BS-A0UV-01 COSM1065858 c.1488G>A p.R496R Substitution - coding silent 5:172339617-172339617 - TCGA-AA-3715-01 COSM270137 c.1322C>T p.P441L Substitution - Missense 5:172339783-172339783 - PTC-7C COSM3761109 c.105C>T p.S35S Substitution - coding silent 5:172422467-172422467 - PTC-50C COSM3747624 c.59T>G p.V20G Substitution - Missense 5:172454294-172454294 - RKO COSM4648873 c.582T>C p.T194T Substitution - coding silent 5:172358858-172358858 - TCGA-EK-A2PM-01 COSM4831331 c.1564C>G p.L522V Substitution - Missense 5:172339541-172339541 - HCC55T COSM1620055 c.1694C>T p.P565L Substitution - Missense 5:172339411-172339411 - TCGA-ER-A42K-06 COSM4894847 c.1891C>T p.P631S Substitution - Missense 5:172339214-172339214 - SC_9100 COSM5568950 c.2678G>A p.S893N Substitution - Missense 5:172338427-172338427 - LUAD-F00282 COSM367410 c.2455C>T p.R819* Substitution - Nonsense 5:172338650-172338650 - TCGA-AC-A23H-01 COSM3827692 c.1045C>T p.R349C Substitution - Missense 5:172347300-172347300 - PDA_020 COSM4999067 c.431_432insG p.D145fs*1 Insertion - Frameshift 5:172362865-172362866 - 2497781 COSM5751077 c.2645A>G p.N882S Substitution - Missense 5:172338460-172338460 - 1T COSM106655 c.2242C>T p.Q748* Substitution - Nonsense 5:172338863-172338863 - TCGA-D1-A15X-01 COSM1065860 c.251G>A p.R84Q Substitution - Missense 5:172394621-172394621 - T55 COSM4725694 c.1518A>G p.A506A Substitution - coding silent 5:172339587-172339587 - CHC892T COSM4798145 c.2439G>A p.G813G Substitution - coding silent 5:172338666-172338666 - PT14_1 COSM1696759 c.1901C>T p.P634L Substitution - Missense 5:172339204-172339204 - TCGA-AA-A010-01 COSM284963 c.1960C>T p.P654S Substitution - Missense 5:172339145-172339145 - PCSI_0080_Pa_P_526 COSM3381197 c.1089G>A p.P363P Substitution - coding silent 5:172346235-172346235 - TCGA-C8-A26Z-01 COSM1486605 c.1971C>T p.G657G Substitution - coding silent 5:172339134-172339134 - 2497767 COSM5750180 c.2278C>T p.R760C Substitution - Missense 5:172338827-172338827 - TCGA-EE-A2MQ-06 COSM3614189 c.2183C>T p.A728V Substitution - Missense 5:172338922-172338922 - PTC-46C COSM3747624 c.59T>G p.V20G Substitution - Missense 5:172454294-172454294 - TCGA-60-2719-01 COSM737699 c.1569T>A p.P523P Substitution - coding silent 5:172339536-172339536 - ME009T COSM223043 c.221C>T p.P74L Substitution - Missense 5:172406288-172406288 - TCGA-AA-A010-01 COSM284964 c.1781T>G p.M594R Substitution - Missense 5:172339324-172339324 - TCGA-FW-A3R5-06 COSM3919696 c.2711C>T p.S904F Substitution - Missense 5:172338394-172338394 - YULOCUS COSM106655 c.2242C>T p.Q748* Substitution - Nonsense 5:172338863-172338863 - TCGA-EE-A20B-06 COSM3614190 c.2151T>C p.D717D Substitution - coding silent 5:172338954-172338954 - TCGA-66-2758-01 COSM737701 c.1803G>T p.K601N Substitution - Missense 5:172339302-172339302 - TCGA-G4-6588-01 COSM1436041 c.1204T>C p.L402L Substitution - coding silent 5:172339901-172339901 - PT35 COSM5912339 c.2309C>T p.S770L Substitution - Missense 5:172338796-172338796 - TCGA-BR-4361-01 COSM3853737 c.2379C>T p.T793T Substitution - coding silent 5:172338726-172338726 - LUAD-74TBW COSM355255 c.1605G>A p.E535E Substitution - coding silent 5:172339500-172339500 - HCC55 COSM1620055 c.1694C>T p.P565L Substitution - Missense 5:172339411-172339411 - PCSI_0002_Pa_X COSM3381196 c.1151C>A p.P384Q Substitution - Missense 5:172346173-172346173 - TCGA-BH-A0W7-01 COSM449330 c.1998C>T p.L666L Substitution - coding silent 5:172339107-172339107 - TCGA-04-1342-01 COSM72626 c.2173T>G p.S725A Substitution - Missense 5:172338932-172338932 - MOLT-4 COSM1620055 c.1694C>T p.P565L Substitution - Missense 5:172339411-172339411 - SW480 COSM4655939 c.2115G>A p.G705G Substitution - coding silent 5:172338990-172338990 - TCGA-AP-A059-01 COSM1065857 c.2226C>T p.S742S Substitution - coding silent 5:172338879-172338879 - DLBCL759 COSM1581729 c.1840C>T p.P614S Substitution - Missense 5:172339265-172339265 - TCGA-D1-A103-01 COSM1065856 c.2571C>T p.A857A Substitution - coding silent 5:172338534-172338534 - LUAD-74TBW COSM226152 c.1675G>A p.V559M Substitution - Missense 5:172339430-172339430 - TCGA-18-3409-01 COSM737700 c.1707C>T p.I569I Substitution - coding silent 5:172339398-172339398 - PTC-54C COSM3747624 c.59T>G p.V20G Substitution - Missense 5:172454294-172454294 - TCGA-D1-A174-01 COSM1065862 c.183G>A p.M61I Substitution - Missense 5:172406326-172406326 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.285401;Hs.285666 5q35.1 613293

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.I560M c.1680T>G 5 171766429 BRCA A C Missense p.S725A c.2173T>G 5 171765936 OV - A Frameshift p.L812Ffs*6 c.2435dupT 5 171765674 BLCA A G Synonymous p.D717D c.2151T>C 5 171765958 CM A T Synonymous p.P523P c.1569T>A 5 171766540 LUSC C A Missense p.A272S c.814G>T 5 171777565 OV C A Missense p.G323W c.967G>T 5 171777412 STAD C A Missense p.K601N c.1803G>T 5 171766306 LUSC C A Missense p.R71L c.212G>T 5 171833301 LUSC C A Missense p.W488C c.1464G>T 5 171766645 BRCA C A Nonsense p.E538* c.1612G>T 5 171766497 LUAD C A Synonymous p.L119L c.357G>T 5 171809084 HNSC C A Synonymous p.V739V c.2217G>T 5 171765892 LUAD C G Missense p.R671T c.2012G>C 5 171766097 OV C T Missense p.A377T c.1129G>A 5 171773199 SCLC C T Missense p.E443K c.1327G>A 5 171766782 BLCA C T Missense p.G144S c.430G>A 5 171789871 RCCC C T Missense p.M61I c.183G>A 5 171833330 UCEC C T Missense p.R44H c.131G>A 5 171849445 HNSC C T Missense p.V559M c.1675G>A 5 171766434 CM C T Synonymous p.E509E c.1527G>A 5 171766582 HNSC C T Synonymous p.L812L c.2436G>A 5 171765673 LUAD C T Synonymous p.P361P c.1083G>A 5 171773245 BLCA C T Synonymous p.Q344Q c.1032G>A 5 171774317 HNSC C T Synonymous p.Q752Q c.2256G>A 5 171765853 LUAD C T Synonymous p.R525R c.1575G>A 5 171766534 CM C T Synonymous p.S532S c.1596G>A 5 171766513 ESCA G A 3-UTRSNV . c.2733+37C>T 5 171765339 CM G A 3-UTRSNV . c.2733+4C>T 5 171765372 CM G A 3-UTRSNV . c.2733+85C>T 5 171765291 CM G A IntronicSNV . c.156+5555C>T 5 171843865 CLL G A Missense p.A709V c.2126C>T 5 171765983 BRCA G A Missense p.A728V c.2183C>T 5 171765926 CM G A Missense p.P578L c.1733C>T 5 171766376 CM G A Missense p.P60S c.178C>T 5 171833335 CM G A Missense p.P614L c.1841C>T 5 171766268 CM G A Missense p.P74L c.221C>T 5 171833292 CM G A Missense p.R879W c.2635C>T 5 171765474 LUAD G A Missense p.S480L c.1439C>T 5 171766670 CM G A Nonsense p.Q380* c.1138C>T 5 171773190 CM G A Nonsense p.Q52* c.154C>T 5 171849422 LUAD G A Synonymous p.A604A c.1812C>T 5 171766297 CM G A Synonymous p.G657G c.1971C>T 5 171766138 BRCA G A Synonymous p.L666L c.1998C>T 5 171766111 BRCA G A Synonymous p.L701L c.2103C>T 5 171766006 CM G A Synonymous p.R708R c.2124C>T 5 171765985 BLCA G C Synonymous p.A673A c.2019C>G 5 171766090 BRCA GG AA Missense p.L701F c.2100_2101delinsTT 5 171766008 CM G T Missense p.P646T c.1936C>A 5 171766173 COREAD G T Nonsense p.Y407* c.1221C>A 5 171766888 COREAD T A 3-UTRSNV . c.2733+3397A>T 5 171761979 HC T A Missense p.D214V c.641A>T 5 171785803 BRCA T A Synonymous p.S500S c.1500A>T 5 171766609 LUAD T C Synonymous p.P765P c.2295A>G 5 171765814 STAD T G Synonymous p.I96I c.288A>C 5 171821588 PRAD