Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 4 154216710 154216710 + Silent SNP G G A TCGA-OR-A5LC-01A-11D-A29I-10 TCGA-OR-A5LC-10A-01D-A29L-10 g.chr4:154216710G>A c.951G>A c.(949-951)acG>acA p.T317T BLCA 4 154197215 154197215 + Missense_Mutation SNP C C A TCGA-XF-AAMG-01A-11D-A42E-08 TCGA-XF-AAMG-10A-01D-A42H-08 g.chr4:154197215C>A c.305C>A c.(304-306)tCc>tAc p.S102Y BLCA 4 154214252 154214252 + Missense_Mutation SNP C C T TCGA-XF-AAMG-01A-11D-A42E-08 TCGA-XF-AAMG-10A-01D-A42H-08 g.chr4:154214252C>T c.491C>T c.(490-492)tCg>tTg p.S164L BLCA 4 154215532 154215532 + Silent SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 g.chr4:154215532C>T c.600C>T c.(598-600)atC>atT p.I200I BLCA 4 154216911 154216911 + Silent SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 g.chr4:154216911C>T c.1152C>T c.(1150-1152)aaC>aaT p.N384N BLCA 4 154217081 154217081 + Missense_Mutation SNP C C T TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 g.chr4:154217081C>T c.1322C>T c.(1321-1323)cCg>cTg p.P441L BLCA 4 154237060 154237060 + Missense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 g.chr4:154237060C>T c.1610C>T c.(1609-1611)aCa>aTa p.T537I BLCA 4 154243942 154243942 + Missense_Mutation SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 g.chr4:154243942G>A c.1844G>A c.(1843-1845)cGa>cAa p.R615Q BLCA 4 154243969 154243969 + Splice_Site SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 g.chr4:154243969G>A c.e9+1 BLCA 4 154245282 154245282 + Silent SNP C C T TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr4:154245282C>T c.1923C>T c.(1921-1923)ttC>ttT p.F641F BLCA 4 154249781 154249781 + Missense_Mutation SNP G G A TCGA-FD-A62O-01A-11D-A30E-08 TCGA-FD-A62O-10A-01D-A30H-08 g.chr4:154249781G>A c.2041G>A c.(2041-2043)Gga>Aga p.G681R BRCA 4 154191510 154191510 + 5'UTR SNP A A G TCGA-AR-A24M-01A-11D-A167-09 TCGA-AR-A24M-10A-01D-A167-09 g.chr4:154191510A>G BRCA 4 154191552 154191552 + Silent SNP C C A TCGA-LL-A440-01A-11D-A243-09 TCGA-LL-A440-10A-01D-A243-09 g.chr4:154191552C>A c.15C>A c.(13-15)ggC>ggA p.G5G BRCA 4 154243810 154243810 + Missense_Mutation SNP G G T TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 g.chr4:154243810G>T c.1712G>T c.(1711-1713)gGa>gTa p.G571V CESC 4 154191652 154191652 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr4:154191652C>T c.115C>T c.(115-117)Ctg>Ttg p.L39L CESC 4 154197120 154197120 + Silent SNP C C T TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 g.chr4:154197120C>T c.210C>T c.(208-210)ccC>ccT p.P70P CESC 4 154216602 154216602 + Silent SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 g.chr4:154216602G>A c.843G>A c.(841-843)ctG>ctA p.L281L CESC 4 154216995 154216995 + Silent SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 g.chr4:154216995C>T c.1236C>T c.(1234-1236)atC>atT p.I412I CHOL 4 154237032 154237032 + Missense_Mutation SNP C C T TCGA-3X-AAVC-01A-21D-A417-09 TCGA-3X-AAVC-10A-01D-A41A-09 g.chr4:154237032C>T c.1582C>T c.(1582-1584)Cgc>Tgc p.R528C COAD 4 154197054 154197054 + Missense_Mutation SNP G G T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr4:154197054G>T c.144G>T c.(142-144)caG>caT p.Q48H COAD 4 154197071 154197071 + Missense_Mutation SNP A A T TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr4:154197071A>T c.161A>T c.(160-162)cAc>cTc p.H54L COAD 4 154197268 154197268 + Missense_Mutation SNP A A C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr4:154197268A>C c.358A>C c.(358-360)Aac>Cac p.N120H COAD 4 154216477 154216477 + Nonsense_Mutation SNP C C T TCGA-CK-4950-01A-01D-1719-10 TCGA-CK-4950-10A-01D-1719-10 g.chr4:154216477C>T c.718C>T c.(718-720)Cag>Tag p.Q240* COAD 4 154216535 154216535 + Missense_Mutation SNP C C T TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr4:154216535C>T c.776C>T c.(775-777)gCg>gTg p.A259V COAD 4 154216861 154216861 + Missense_Mutation SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr4:154216861G>A c.1102G>A c.(1102-1104)Gaa>Aaa p.E368K COAD 4 154216996 154216996 + Nonsense_Mutation SNP C C T TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr4:154216996C>T c.1237C>T c.(1237-1239)Cga>Tga p.R413* COAD 4 154217072 154217072 + Missense_Mutation SNP T T C TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr4:154217072T>C c.1313T>C c.(1312-1314)gTt>gCt p.V438A COAD 4 154217171 154217171 + Missense_Mutation SNP A A T TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr4:154217171A>T c.1412A>T c.(1411-1413)gAt>gTt p.D471V COAD 4 154236677 154236677 + Frame_Shift_Del DEL G G - TCGA-F4-6703-01A-11D-1835-10 TCGA-F4-6703-10A-01D-1835-10 g.chr4:154236677delG c.1470delG c.(1468-1470)cagfs p.Q490fs COAD 4 154237093 154237093 + Missense_Mutation SNP T T A TCGA-AA-3979-01A-01W-0995-10 TCGA-AA-3979-10A-01W-0999-10 g.chr4:154237093T>A c.1643T>A c.(1642-1644)aTc>aAc p.I548N COAD 4 154237137 154237137 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr4:154237137G>A c.1687G>A c.(1687-1689)Gat>Aat p.D563N COAD 4 154243886 154243886 + Silent SNP G G A TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr4:154243886G>A c.1788G>A c.(1786-1788)gcG>gcA p.A596A COAD 4 154249753 154249753 + Silent SNP T T A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr4:154249753T>A c.2013T>A c.(2011-2013)gcT>gcA p.A671A COADREAD 4 154197054 154197054 + Missense_Mutation SNP G G T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr4:154197054G>T c.144G>T c.(142-144)caG>caT p.Q48H COADREAD 4 154197071 154197071 + Missense_Mutation SNP A A T TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr4:154197071A>T c.161A>T c.(160-162)cAc>cTc p.H54L COADREAD 4 154197268 154197268 + Missense_Mutation SNP A A C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr4:154197268A>C c.358A>C c.(358-360)Aac>Cac p.N120H COADREAD 4 154216477 154216477 + Nonsense_Mutation SNP C C T TCGA-CK-4950-01A-01D-1719-10 TCGA-CK-4950-10A-01D-1719-10 g.chr4:154216477C>T c.718C>T c.(718-720)Cag>Tag p.Q240* COADREAD 4 154216535 154216535 + Missense_Mutation SNP C C T TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr4:154216535C>T c.776C>T c.(775-777)gCg>gTg p.A259V COADREAD 4 154216766 154216766 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr4:154216766G>A c.1007G>A c.(1006-1008)cGg>cAg p.R336Q COADREAD 4 154216861 154216861 + Missense_Mutation SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr4:154216861G>A c.1102G>A c.(1102-1104)Gaa>Aaa p.E368K COADREAD 4 154216996 154216996 + Nonsense_Mutation SNP C C T TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr4:154216996C>T c.1237C>T c.(1237-1239)Cga>Tga p.R413* COADREAD 4 154217072 154217072 + Missense_Mutation SNP T T C TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr4:154217072T>C c.1313T>C c.(1312-1314)gTt>gCt p.V438A COADREAD 4 154217171 154217171 + Missense_Mutation SNP A A T TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr4:154217171A>T c.1412A>T c.(1411-1413)gAt>gTt p.D471V COADREAD 4 154236677 154236677 + Frame_Shift_Del DEL G G - TCGA-F4-6703-01A-11D-1835-10 TCGA-F4-6703-10A-01D-1835-10 g.chr4:154236677delG c.1470delG c.(1468-1470)cagfs p.Q490fs COADREAD 4 154237093 154237093 + Missense_Mutation SNP T T A TCGA-AA-3979-01A-01W-0995-10 TCGA-AA-3979-10A-01W-0999-10 g.chr4:154237093T>A c.1643T>A c.(1642-1644)aTc>aAc p.I548N COADREAD 4 154237137 154237137 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr4:154237137G>A c.1687G>A c.(1687-1689)Gat>Aat p.D563N COADREAD 4 154243886 154243886 + Silent SNP G G A TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr4:154243886G>A c.1788G>A c.(1786-1788)gcG>gcA p.A596A COADREAD 4 154249753 154249753 + Silent SNP T T A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr4:154249753T>A c.2013T>A c.(2011-2013)gcT>gcA p.A671A ESCA 4 154191497 154191497 + 5'UTR SNP C C T TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 g.chr4:154191497C>T ESCA 4 154215568 154215568 + Missense_Mutation SNP G G T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 g.chr4:154215568G>T c.636G>T c.(634-636)caG>caT p.Q212H ESCA 4 154236987 154236987 + Frame_Shift_Del DEL T T - TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 g.chr4:154236987delT c.1537delT c.(1537-1539)tttfs p.F513fs GBM 4 154215581 154215581 + Missense_Mutation SNP G G A TCGA-06-0140-01A-01D-1490-08 TCGA-06-0140-10A-01D-1490-08 g.chr4:154215581G>A c.649G>A c.(649-651)Gtg>Atg p.V217M GBMLGG 4 154215581 154215581 + Missense_Mutation SNP G G A TCGA-06-0140-01A-01D-1490-08 TCGA-06-0140-10A-01D-1490-08 g.chr4:154215581G>A c.649G>A c.(649-651)Gtg>Atg p.V217M GBMLGG 4 154216540 154216540 + Missense_Mutation SNP G G A TCGA-DU-A6S8-01A-12D-A32B-08 TCGA-DU-A6S8-10A-01D-A329-08 g.chr4:154216540G>A c.781G>A c.(781-783)Gcc>Acc p.A261T HNSC 4 154197120 154197120 + Silent SNP C C T TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 g.chr4:154197120C>T c.210C>T c.(208-210)ccC>ccT p.P70P HNSC 4 154216657 154216657 + Missense_Mutation SNP G G C TCGA-UF-A7JS-01A-11D-A34J-08 TCGA-UF-A7JS-10A-01D-A34M-08 g.chr4:154216657G>C c.898G>C c.(898-900)Gat>Cat p.D300H HNSC 4 154249705 154249705 + Silent SNP C C T TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 g.chr4:154249705C>T c.1965C>T c.(1963-1965)ttC>ttT p.F655F KIPAN 4 154197264 154197264 + Silent SNP C C T TCGA-AK-3434-01A-02D-1361-10 TCGA-AK-3434-10A-01D-1361-10 g.chr4:154197264C>T c.354C>T c.(352-354)tgC>tgT p.C118C KIPAN 4 154215496 154215496 + Missense_Mutation SNP A A T TCGA-IZ-8195-01A-31D-2396-08 TCGA-IZ-8195-10A-01D-2396-08 g.chr4:154215496A>T c.564A>T c.(562-564)gaA>gaT p.E188D KIPAN 4 154216562 154216562 + Missense_Mutation SNP C C A TCGA-B0-4827-01A-02D-1421-08 TCGA-B0-4827-11A-01D-1421-08 g.chr4:154216562C>A c.803C>A c.(802-804)aCc>aAc p.T268N KIPAN 4 154237027 154237027 + Frame_Shift_Del DEL G G - TCGA-BQ-7053-01A-11D-1961-08 TCGA-BQ-7053-11A-01D-1961-08 g.chr4:154237027delG c.1577delG c.(1576-1578)cggfs p.R526fs KIPAN 4 154249812 154249812 + Missense_Mutation SNP G G A TCGA-BQ-5877-01A-11D-1589-08 TCGA-BQ-5877-11A-01D-1589-08 g.chr4:154249812G>A c.2072G>A c.(2071-2073)aGc>aAc p.S691N KIRC 4 154197264 154197264 + Silent SNP C C T TCGA-AK-3434-01A-02D-1361-10 TCGA-AK-3434-10A-01D-1361-10 g.chr4:154197264C>T c.354C>T c.(352-354)tgC>tgT p.C118C KIRC 4 154216562 154216562 + Missense_Mutation SNP C C A TCGA-B0-4827-01A-02D-1421-08 TCGA-B0-4827-11A-01D-1421-08 g.chr4:154216562C>A c.803C>A c.(802-804)aCc>aAc p.T268N KIRP 4 154215496 154215496 + Missense_Mutation SNP A A T TCGA-IZ-8195-01A-31D-2396-08 TCGA-IZ-8195-10A-01D-2396-08 g.chr4:154215496A>T c.564A>T c.(562-564)gaA>gaT p.E188D KIRP 4 154237027 154237027 + Frame_Shift_Del DEL G G - TCGA-BQ-7053-01A-11D-1961-08 TCGA-BQ-7053-11A-01D-1961-08 g.chr4:154237027delG c.1577delG c.(1576-1578)cggfs p.R526fs KIRP 4 154249812 154249812 + Missense_Mutation SNP G G A TCGA-BQ-5877-01A-11D-1589-08 TCGA-BQ-5877-11A-01D-1589-08 g.chr4:154249812G>A c.2072G>A c.(2071-2073)aGc>aAc p.S691N LGG 4 154216540 154216540 + Missense_Mutation SNP G G A TCGA-DU-A6S8-01A-12D-A32B-08 TCGA-DU-A6S8-10A-01D-A329-08 g.chr4:154216540G>A c.781G>A c.(781-783)Gcc>Acc p.A261T LIHC 4 154191666 154191666 + Nonsense_Mutation SNP C C A TCGA-DD-AADI-01A-11D-A40R-10 TCGA-DD-AADI-10A-01D-A40U-10 g.chr4:154191666C>A c.129C>A c.(127-129)tgC>tgA p.C43* LIHC 4 154214187 154214187 + Silent SNP G G A TCGA-BD-A3ER-01A-11D-A20W-10 TCGA-BD-A3ER-11A-11D-A20W-10 g.chr4:154214187G>A c.426G>A c.(424-426)acG>acA p.T142T LIHC 4 154216477 154216477 + Nonsense_Mutation SNP C C T TCGA-DD-A119-01A-11D-A12Z-10 TCGA-DD-A119-10A-01D-A12Z-10 g.chr4:154216477C>T c.718C>T c.(718-720)Cag>Tag p.Q240* LUAD 4 154191516 154191516 + 5'UTR SNP C C A TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 g.chr4:154191516C>A LUAD 4 154191516 154191516 + 5'UTR SNP C C A TCGA-17-Z013-01A-01W-0746-08 TCGA-17-Z013-11A-01W-0746-08 g.chr4:154191516C>A LUAD 4 154191528 154191528 + 5'UTR SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 g.chr4:154191528G>T LUAD 4 154197272 154197272 + Missense_Mutation SNP A A G TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 g.chr4:154197272A>G c.362A>G c.(361-363)cAc>cGc p.H121R LUAD 4 154215474 154215474 + Missense_Mutation SNP C C G TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 g.chr4:154215474C>G c.542C>G c.(541-543)tCt>tGt p.S181C LUAD 4 154216475 154216475 + Nonsense_Mutation SNP C C A TCGA-MP-A4SW-01A-21D-A24P-08 TCGA-MP-A4SW-10A-01D-A24P-08 g.chr4:154216475C>A c.716C>A c.(715-717)tCg>tAg p.S239* LUAD 4 154216897 154216897 + Nonsense_Mutation SNP G G T TCGA-05-4427-01A-21D-1855-08 TCGA-05-4427-10A-01D-1855-08 g.chr4:154216897G>T c.1138G>T c.(1138-1140)Gag>Tag p.E380* LUAD 4 154217070 154217070 + Silent SNP C C T TCGA-50-5946-01A-11D-1753-08 TCGA-50-5946-10A-01D-1753-08 g.chr4:154217070C>T c.1311C>T c.(1309-1311)cgC>cgT p.R437R LUAD 4 154217122 154217122 + Missense_Mutation SNP G G T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 g.chr4:154217122G>T c.1363G>T c.(1363-1365)Gca>Tca p.A455S LUAD 4 154237007 154237007 + Missense_Mutation SNP C C G TCGA-17-Z023-01A-01W-0746-08 TCGA-17-Z023-11A-01W-0746-08 g.chr4:154237007C>G c.1557C>G c.(1555-1557)ttC>ttG p.F519L LUAD 4 154249741 154249741 + Silent SNP G G A TCGA-05-5425-01A-02D-1625-08 TCGA-05-5425-10A-01D-1625-08 g.chr4:154249741G>A c.2001G>A c.(1999-2001)ggG>ggA p.G667G LUSC 4 154197105 154197105 + Missense_Mutation SNP G G T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 g.chr4:154197105G>T c.195G>T c.(193-195)caG>caT p.Q65H LUSC 4 154217020 154217020 + Missense_Mutation SNP G G A TCGA-37-5819-01A-01D-1632-08 TCGA-37-5819-10A-01D-1632-08 g.chr4:154217020G>A c.1261G>A c.(1261-1263)Gtg>Atg p.V421M LUSC 4 154237038 154237038 + Missense_Mutation SNP C C T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr4:154237038C>T c.1588C>T c.(1588-1590)Ccg>Tcg p.P530S OV 4 154191630 154191630 + Missense_Mutation SNP G G C TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 g.chr4:154191630G>C c.93G>C c.(91-93)aaG>aaC p.K31N PAAD 4 154216605 154216605 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr4:154216605C>T c.846C>T c.(844-846)aaC>aaT p.N282N PAAD 4 154216729 154216729 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr4:154216729G>A c.970G>A c.(970-972)Gtt>Att p.V324I PAAD 4 154216846 154216846 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr4:154216846G>A c.1087G>A c.(1087-1089)Gcc>Acc p.A363T PAAD 4 154216921 154216921 + Missense_Mutation SNP A A G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr4:154216921A>G c.1162A>G c.(1162-1164)Acc>Gcc p.T388A PAAD 4 154217082 154217082 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr4:154217082G>A c.1323G>A c.(1321-1323)ccG>ccA p.P441P PRAD 4 154215596 154215596 + Silent SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr4:154215596C>T c.664C>T c.(664-666)Ctg>Ttg p.L222L PRAD 4 154216729 154216729 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr4:154216729G>A c.970G>A c.(970-972)Gtt>Att p.V324I PRAD 4 154216756 154216756 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr4:154216756G>A c.997G>A c.(997-999)Gag>Aag p.E333K READ 4 154216766 154216766 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr4:154216766G>A c.1007G>A c.(1006-1008)cGg>cAg p.R336Q SKCM 4 154191521 154191521 + 5'UTR SNP C C T TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chr4:154191521C>T SKCM 4 154191564 154191564 + Silent SNP A A G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 g.chr4:154191564A>G c.27A>G c.(25-27)ccA>ccG p.P9P SKCM 4 154197099 154197099 + Silent SNP C C T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 g.chr4:154197099C>T c.189C>T c.(187-189)tgC>tgT p.C63C SKCM 4 154197100 154197100 + Missense_Mutation SNP C C T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 g.chr4:154197100C>T c.190C>T c.(190-192)Cgc>Tgc p.R64C SKCM 4 154197219 154197219 + Silent SNP C C T TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr4:154197219C>T c.309C>T c.(307-309)atC>atT p.I103I SKCM 4 154216662 154216662 + Silent SNP C C T TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr4:154216662C>T c.903C>T c.(901-903)ttC>ttT p.F301F SKCM 4 154216955 154216955 + Missense_Mutation SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 g.chr4:154216955G>A c.1196G>A c.(1195-1197)gGg>gAg p.G399E SKCM 4 154217084 154217084 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 g.chr4:154217084G>A c.1325G>A c.(1324-1326)gGg>gAg p.G442E SKCM 4 154256063 154256063 + Missense_Mutation SNP T T C TCGA-D3-A2JO-06A-11D-A196-08 TCGA-D3-A2JO-10A-01D-A198-08 g.chr4:154256063T>C c.2180T>C c.(2179-2181)gTt>gCt p.V727A

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 4 154236720 154236720 single base substitution A T missense_variant S505C 1513A>T BLCA-CN 4 154236720 154236720 single base substitution A T missense_variant S532C 1594A>T BLCA-US 4 154216911 154216911 single base substitution C T downstream_gene_variant BLCA-US 4 154216911 154216911 single base substitution C T exon_variant BLCA-US 4 154216911 154216911 single base substitution C T synonymous_variant N384N 1152C>T BLCA-US 4 154216911 154216911 single base substitution C T synonymous_variant N411N 1233C>T BLCA-US 4 154217081 154217081 single base substitution C T downstream_gene_variant BLCA-US 4 154217081 154217081 single base substitution C T exon_variant BLCA-US 4 154217081 154217081 single base substitution C T missense_variant P441L 1322C>T BLCA-US 4 154217081 154217081 single base substitution C T missense_variant P468L 1403C>T BLCA-US 4 154237060 154237060 single base substitution C T missense_variant T537I 1610C>T BLCA-US 4 154237060 154237060 single base substitution C T missense_variant T564I 1691C>T BLCA-US 4 154243942 154243942 single base substitution G A exon_variant BLCA-US 4 154243942 154243942 single base substitution G A missense_variant R615Q 1844G>A BLCA-US 4 154243942 154243942 single base substitution G A missense_variant R642Q 1925G>A BLCA-US 4 154243969 154243969 single base substitution G A splice_donor_variant BOCA-FR 4 154130429 154130429 single base substitution A G intron_variant BOCA-UK 4 154216927 154216927 single base substitution G T downstream_gene_variant BOCA-UK 4 154216927 154216927 single base substitution G T exon_variant BOCA-UK 4 154216927 154216927 single base substitution G T stop_gained E390* 1168G>T BOCA-UK 4 154216927 154216927 single base substitution G T stop_gained E417* 1249G>T BOCA-UK 4 154216928 154216928 single base substitution A T downstream_gene_variant BOCA-UK 4 154216928 154216928 single base substitution A T exon_variant BOCA-UK 4 154216928 154216928 single base substitution A T missense_variant E390V 1169A>T BOCA-UK 4 154216928 154216928 single base substitution A T missense_variant E417V 1250A>T BRCA-EU 4 154070739 154070739 single base substitution T A upstream_gene_variant BRCA-EU 4 154072089 154072089 single base substitution A G upstream_gene_variant BRCA-EU 4 154072684 154072684 single base substitution G A upstream_gene_variant BRCA-EU 4 154074803 154074803 single base substitution G C intron_variant BRCA-EU 4 154076486 154076486 single base substitution T C intron_variant BRCA-EU 4 154077491 154077491 single base substitution C G intron_variant BRCA-EU 4 154077660 154077660 single base substitution C T intron_variant BRCA-EU 4 154077967 154077967 single base substitution T C intron_variant BRCA-EU 4 154077967 154077967 single base substitution T C splice_donor_variant BRCA-EU 4 154078427 154078427 single base substitution C T downstream_gene_variant BRCA-EU 4 154078427 154078427 single base substitution C T intron_variant BRCA-EU 4 154078792 154078792 single base substitution G C downstream_gene_variant BRCA-EU 4 154078792 154078792 single base substitution G C intron_variant BRCA-EU 4 154080200 154080200 single base substitution T C downstream_gene_variant BRCA-EU 4 154080200 154080200 single base substitution T C intron_variant BRCA-EU 4 154081311 154081311 single base substitution C T downstream_gene_variant BRCA-EU 4 154081311 154081311 single base substitution C T intron_variant BRCA-EU 4 154082411 154082411 single base substitution A C downstream_gene_variant BRCA-EU 4 154082411 154082411 single base substitution A C intron_variant BRCA-EU 4 154082965 154082965 single base substitution C G downstream_gene_variant BRCA-EU 4 154082965 154082965 single base substitution C G intron_variant BRCA-EU 4 154084510 154084510 single base substitution T C intron_variant BRCA-EU 4 154085368 154085368 single base substitution G T intron_variant BRCA-EU 4 154087032 154087032 single base substitution G C intron_variant BRCA-EU 4 154089096 154089096 single base substitution A G intron_variant BRCA-EU 4 154089707 154089707 single base substitution G C intron_variant BRCA-EU 4 154090449 154090449 single base substitution A G intron_variant BRCA-EU 4 154091289 154091289 single base substitution A G intron_variant BRCA-EU 4 154091688 154091688 single base substitution C T intron_variant BRCA-EU 4 154092026 154092026 single base substitution A C intron_variant BRCA-EU 4 154092304 154092304 single base substitution C T intron_variant BRCA-EU 4 154096585 154096585 single base substitution G A intron_variant BRCA-EU 4 154098902 154098902 single base substitution C T intron_variant BRCA-EU 4 154099162 154099162 single base substitution C A intron_variant BRCA-EU 4 154100984 154100984 single base substitution C G intron_variant BRCA-EU 4 154102503 154102503 single base substitution C T intron_variant BRCA-EU 4 154103044 154103045 deletion of <=200bp AG - intron_variant BRCA-EU 4 154103752 154103752 single base substitution C G intron_variant BRCA-EU 4 154105018 154105018 single base substitution C G intron_variant BRCA-EU 4 154105277 154105277 single base substitution T C intron_variant BRCA-EU 4 154105933 154105933 single base substitution T A intron_variant BRCA-EU 4 154109086 154109086 single base substitution C T intron_variant BRCA-EU 4 154109163 154109163 single base substitution G A intron_variant BRCA-EU 4 154110372 154110372 single base substitution G C intron_variant BRCA-EU 4 154110814 154110814 single base substitution C T intron_variant BRCA-EU 4 154111686 154111686 single base substitution C G intron_variant BRCA-EU 4 154112318 154112318 single base substitution C T intron_variant BRCA-EU 4 154114041 154114041 single base substitution G A intron_variant BRCA-EU 4 154114096 154114096 single base substitution C G intron_variant BRCA-EU 4 154117055 154117055 single base substitution C T intron_variant BRCA-EU 4 154118026 154118026 single base substitution G A intron_variant BRCA-EU 4 154118184 154118184 single base substitution C T intron_variant BRCA-EU 4 154118499 154118499 single base substitution G T intron_variant BRCA-EU 4 154121038 154121038 single base substitution G A intron_variant BRCA-EU 4 154121038 154121038 single base substitution G A upstream_gene_variant BRCA-EU 4 154121080 154121080 single base substitution C G intron_variant BRCA-EU 4 154121080 154121080 single base substitution C G upstream_gene_variant BRCA-EU 4 154124729 154124729 single base substitution G C intron_variant BRCA-EU 4 154124729 154124729 single base substitution G C upstream_gene_variant BRCA-EU 4 154125215 154125215 single base substitution C T intron_variant BRCA-EU 4 154125215 154125215 single base substitution C T upstream_gene_variant BRCA-EU 4 154126125 154126125 single base substitution G C intron_variant BRCA-EU 4 154126283 154126283 single base substitution C G intron_variant BRCA-EU 4 154126493 154126493 single base substitution C G intron_variant BRCA-EU 4 154126610 154126610 deletion of <=200bp G - intron_variant BRCA-EU 4 154126683 154126683 single base substitution C G intron_variant BRCA-EU 4 154126898 154126898 single base substitution C G intron_variant BRCA-EU 4 154128158 154128158 single base substitution C T intron_variant BRCA-EU 4 154128993 154128993 single base substitution C G intron_variant BRCA-EU 4 154129609 154129612 deletion of <=200bp AATA - intron_variant BRCA-EU 4 154130584 154130584 single base substitution C G intron_variant BRCA-EU 4 154131365 154131365 single base substitution T G intron_variant BRCA-EU 4 154131563 154131563 single base substitution G A intron_variant BRCA-EU 4 154132250 154132250 single base substitution C G intron_variant BRCA-EU 4 154133887 154133887 single base substitution C A intron_variant BRCA-EU 4 154135816 154135816 single base substitution T A intron_variant BRCA-EU 4 154135919 154135919 single base substitution C G intron_variant BRCA-EU 4 154136658 154136658 single base substitution A G intron_variant BRCA-EU 4 154136873 154136873 single base substitution C A intron_variant BRCA-EU 4 154137025 154137025 insertion of <=200bp - T intron_variant BRCA-EU 4 154137327 154137327 single base substitution G A intron_variant BRCA-EU 4 154140799 154140799 single base substitution C T intron_variant BRCA-EU 4 154141246 154141246 single base substitution A C intron_variant BRCA-EU 4 154142835 154142835 single base substitution A C intron_variant BRCA-EU 4 154142984 154142984 single base substitution G A intron_variant BRCA-EU 4 154143371 154143371 insertion of <=200bp - T intron_variant BRCA-EU 4 154147522 154147522 single base substitution C T downstream_gene_variant BRCA-EU 4 154147522 154147522 single base substitution C T intron_variant BRCA-EU 4 154150614 154150614 single base substitution T C intron_variant BRCA-EU 4 154150875 154150875 single base substitution G A intron_variant BRCA-EU 4 154154719 154154719 single base substitution G C intron_variant BRCA-EU 4 154155399 154155399 single base substitution C T intron_variant BRCA-EU 4 154155468 154155468 single base substitution G A intron_variant BRCA-EU 4 154157360 154157360 single base substitution C G intron_variant BRCA-EU 4 154157877 154157877 single base substitution C G intron_variant BRCA-EU 4 154158724 154158724 single base substitution C G intron_variant BRCA-EU 4 154158934 154158934 single base substitution C T intron_variant BRCA-EU 4 154159913 154159913 single base substitution C A intron_variant BRCA-EU 4 154160509 154160509 single base substitution A C intron_variant BRCA-EU 4 154160649 154160649 single base substitution C G intron_variant BRCA-EU 4 154161392 154161392 single base substitution C A intron_variant BRCA-EU 4 154169171 154169171 single base substitution G A intron_variant BRCA-EU 4 154170929 154170929 single base substitution G A intron_variant BRCA-EU 4 154173335 154173335 single base substitution G A intron_variant BRCA-EU 4 154173405 154173405 single base substitution C G intron_variant BRCA-EU 4 154175160 154175160 single base substitution G T intron_variant BRCA-EU 4 154175160 154175160 single base substitution G T upstream_gene_variant BRCA-EU 4 154176976 154176976 single base substitution T C intron_variant BRCA-EU 4 154176976 154176976 single base substitution T C upstream_gene_variant BRCA-EU 4 154177743 154177743 single base substitution C T intron_variant BRCA-EU 4 154177743 154177743 single base substitution C T upstream_gene_variant BRCA-EU 4 154178356 154178356 single base substitution G A intron_variant BRCA-EU 4 154178356 154178356 single base substitution G A upstream_gene_variant BRCA-EU 4 154180788 154180788 single base substitution C T intron_variant BRCA-EU 4 154182136 154182136 single base substitution A T intron_variant BRCA-EU 4 154182611 154182611 single base substitution C A intron_variant BRCA-EU 4 154183401 154183401 single base substitution C G intron_variant BRCA-EU 4 154186186 154186186 single base substitution T C intron_variant BRCA-EU 4 154186320 154186320 single base substitution A C intron_variant BRCA-EU 4 154187527 154187527 single base substitution A T intron_variant BRCA-EU 4 154188575 154188575 single base substitution C T intron_variant BRCA-EU 4 154189104 154189104 single base substitution C T intron_variant BRCA-EU 4 154189663 154189666 deletion of <=200bp AGTT - intron_variant BRCA-EU 4 154190078 154190078 single base substitution T G intron_variant BRCA-EU 4 154190310 154190310 deletion of <=200bp T - intron_variant BRCA-EU 4 154190885 154190885 single base substitution C G intron_variant BRCA-EU 4 154191494 154191494 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 4 154191494 154191494 single base substitution G A exon_variant BRCA-EU 4 154191494 154191494 single base substitution G A intron_variant BRCA-EU 4 154191494 154191494 single base substitution G A missense_variant R13H 38G>A BRCA-EU 4 154191577 154191577 single base substitution C T exon_variant BRCA-EU 4 154191577 154191577 single base substitution C T intron_variant BRCA-EU 4 154191577 154191577 single base substitution C T missense_variant R14C 40C>T BRCA-EU 4 154191577 154191577 single base substitution C T missense_variant R41C 121C>T BRCA-EU 4 154192713 154192713 single base substitution G T downstream_gene_variant BRCA-EU 4 154192713 154192713 single base substitution G T intron_variant BRCA-EU 4 154192927 154192927 single base substitution T A downstream_gene_variant BRCA-EU 4 154192927 154192927 single base substitution T A intron_variant BRCA-EU 4 154193775 154193775 single base substitution A G downstream_gene_variant BRCA-EU 4 154193775 154193775 single base substitution A G intron_variant BRCA-EU 4 154194187 154194187 single base substitution C T downstream_gene_variant BRCA-EU 4 154194187 154194187 single base substitution C T intron_variant BRCA-EU 4 154195635 154195635 single base substitution A T downstream_gene_variant BRCA-EU 4 154195635 154195635 single base substitution A T intron_variant BRCA-EU 4 154197500 154197500 single base substitution T G downstream_gene_variant BRCA-EU 4 154197500 154197500 single base substitution T G intron_variant BRCA-EU 4 154198683 154198683 single base substitution A T downstream_gene_variant BRCA-EU 4 154198683 154198683 single base substitution A T intron_variant BRCA-EU 4 154199462 154199462 single base substitution C A downstream_gene_variant BRCA-EU 4 154199462 154199462 single base substitution C A intron_variant BRCA-EU 4 154200528 154200528 single base substitution C T downstream_gene_variant BRCA-EU 4 154200528 154200528 single base substitution C T intron_variant BRCA-EU 4 154201865 154201865 single base substitution C G downstream_gene_variant BRCA-EU 4 154201865 154201865 single base substitution C G intron_variant BRCA-EU 4 154202075 154202075 single base substitution A T downstream_gene_variant BRCA-EU 4 154202075 154202075 single base substitution A T intron_variant BRCA-EU 4 154202202 154202202 single base substitution A T downstream_gene_variant BRCA-EU 4 154202202 154202202 single base substitution A T intron_variant BRCA-EU 4 154202358 154202358 single base substitution A G downstream_gene_variant BRCA-EU 4 154202358 154202358 single base substitution A G intron_variant BRCA-EU 4 154202837 154202837 single base substitution G A intron_variant BRCA-EU 4 154202886 154202886 single base substitution C A intron_variant BRCA-EU 4 154204905 154204905 single base substitution C T intron_variant BRCA-EU 4 154207080 154207080 single base substitution A G intron_variant BRCA-EU 4 154207524 154207524 deletion of <=200bp T - intron_variant BRCA-EU 4 154209318 154209318 single base substitution G C intron_variant BRCA-EU 4 154209822 154209822 single base substitution C T intron_variant BRCA-EU 4 154210629 154210631 deletion of <=200bp AAG - intron_variant BRCA-EU 4 154212220 154212220 deletion of <=200bp A - intron_variant BRCA-EU 4 154213542 154213542 single base substitution G C intron_variant BRCA-EU 4 154214702 154214702 single base substitution G A downstream_gene_variant BRCA-EU 4 154214702 154214702 single base substitution G A intron_variant BRCA-EU 4 154214837 154214837 single base substitution C T downstream_gene_variant BRCA-EU 4 154214837 154214837 single base substitution C T intron_variant BRCA-EU 4 154217852 154217852 single base substitution C T downstream_gene_variant BRCA-EU 4 154217852 154217852 single base substitution C T intron_variant BRCA-EU 4 154218418 154218418 single base substitution G T downstream_gene_variant BRCA-EU 4 154218418 154218418 single base substitution G T intron_variant BRCA-EU 4 154219187 154219187 single base substitution C G downstream_gene_variant BRCA-EU 4 154219187 154219187 single base substitution C G intron_variant BRCA-EU 4 154220065 154220065 deletion of <=200bp T - downstream_gene_variant BRCA-EU 4 154220065 154220065 deletion of <=200bp T - intron_variant BRCA-EU 4 154220508 154220509 deletion of <=200bp TA - downstream_gene_variant BRCA-EU 4 154220508 154220509 deletion of <=200bp TA - intron_variant BRCA-EU 4 154220522 154220522 single base substitution C T downstream_gene_variant BRCA-EU 4 154220522 154220522 single base substitution C T intron_variant BRCA-EU 4 154220541 154220541 insertion of <=200bp - TA downstream_gene_variant BRCA-EU 4 154220541 154220541 insertion of <=200bp - TA intron_variant BRCA-EU 4 154223779 154223779 single base substitution C A intron_variant BRCA-EU 4 154224952 154224952 single base substitution G A intron_variant BRCA-EU 4 154225875 154225875 single base substitution C G intron_variant BRCA-EU 4 154226308 154226308 single base substitution A T intron_variant BRCA-EU 4 154226437 154226437 single base substitution G C intron_variant BRCA-EU 4 154228264 154228264 single base substitution A G intron_variant BRCA-EU 4 154228445 154228445 single base substitution G C intron_variant BRCA-EU 4 154228936 154228936 single base substitution T G intron_variant BRCA-EU 4 154231705 154231705 single base substitution C T downstream_gene_variant BRCA-EU 4 154231705 154231705 single base substitution C T intron_variant BRCA-EU 4 154231749 154231749 single base substitution C T downstream_gene_variant BRCA-EU 4 154231749 154231749 single base substitution C T intron_variant BRCA-EU 4 154232229 154232229 single base substitution G C downstream_gene_variant BRCA-EU 4 154232229 154232229 single base substitution G C intron_variant BRCA-EU 4 154234724 154234724 single base substitution G C downstream_gene_variant BRCA-EU 4 154234724 154234724 single base substitution G C intron_variant BRCA-EU 4 154237331 154237331 single base substitution C T intron_variant BRCA-EU 4 154240906 154240906 single base substitution T A intron_variant BRCA-EU 4 154240906 154240906 single base substitution T A upstream_gene_variant BRCA-EU 4 154241156 154241156 single base substitution T C intron_variant BRCA-EU 4 154241156 154241156 single base substitution T C upstream_gene_variant BRCA-EU 4 154242681 154242681 single base substitution T G intron_variant BRCA-EU 4 154242681 154242681 single base substitution T G upstream_gene_variant BRCA-EU 4 154244810 154244810 single base substitution A T intron_variant BRCA-EU 4 154245392 154245392 single base substitution C G exon_variant BRCA-EU 4 154245392 154245392 single base substitution C G intron_variant BRCA-EU 4 154246912 154246912 single base substitution C G downstream_gene_variant BRCA-EU 4 154246912 154246912 single base substitution C G intron_variant BRCA-EU 4 154248196 154248196 deletion of <=200bp A - downstream_gene_variant BRCA-EU 4 154248196 154248196 deletion of <=200bp A - intron_variant BRCA-EU 4 154252487 154252487 deletion of <=200bp A - intron_variant BRCA-EU 4 154252908 154252908 deletion of <=200bp T - intron_variant BRCA-EU 4 154253112 154253112 single base substitution G A intron_variant BRCA-EU 4 154254504 154254504 single base substitution G C intron_variant BRCA-EU 4 154256666 154256666 single base substitution G C 3_prime_UTR_variant BRCA-EU 4 154256957 154256957 single base substitution T A 3_prime_UTR_variant BRCA-EU 4 154256978 154256978 single base substitution T C 3_prime_UTR_variant BRCA-EU 4 154257223 154257223 single base substitution G T 3_prime_UTR_variant BRCA-EU 4 154258175 154258175 single base substitution T C 3_prime_UTR_variant BRCA-EU 4 154258175 154258175 single base substitution T C downstream_gene_variant BRCA-EU 4 154260386 154260386 single base substitution G C 3_prime_UTR_variant BRCA-EU 4 154260386 154260386 single base substitution G C downstream_gene_variant BRCA-EU 4 154260970 154260970 single base substitution C T downstream_gene_variant BRCA-EU 4 154260993 154260993 single base substitution G A downstream_gene_variant BRCA-EU 4 154262483 154262483 single base substitution G T downstream_gene_variant BRCA-EU 4 154262517 154262517 single base substitution C T downstream_gene_variant BRCA-EU 4 154263006 154263006 single base substitution A G downstream_gene_variant BRCA-FR 4 154072684 154072684 single base substitution G A upstream_gene_variant BRCA-FR 4 154074803 154074803 single base substitution G C intron_variant BRCA-FR 4 154076486 154076486 single base substitution T C intron_variant BRCA-FR 4 154077491 154077491 single base substitution C G intron_variant BRCA-FR 4 154082965 154082965 single base substitution C G downstream_gene_variant BRCA-FR 4 154082965 154082965 single base substitution C G intron_variant BRCA-FR 4 154083231 154083231 single base substitution C A downstream_gene_variant BRCA-FR 4 154083231 154083231 single base substitution C A intron_variant BRCA-FR 4 154091289 154091289 single base substitution A G intron_variant BRCA-FR 4 154117055 154117055 single base substitution C T intron_variant BRCA-FR 4 154125215 154125215 single base substitution C T intron_variant BRCA-FR 4 154125215 154125215 single base substitution C T upstream_gene_variant BRCA-FR 4 154126493 154126493 single base substitution C G intron_variant BRCA-FR 4 154126898 154126898 single base substitution C G intron_variant BRCA-FR 4 154130584 154130584 single base substitution C G intron_variant BRCA-FR 4 154132493 154132493 single base substitution G A intron_variant BRCA-FR 4 154143392 154143392 single base substitution C T intron_variant BRCA-FR 4 154155322 154155322 single base substitution G A intron_variant BRCA-FR 4 154155399 154155399 single base substitution C T intron_variant BRCA-FR 4 154160649 154160649 single base substitution C G intron_variant BRCA-FR 4 154161392 154161392 single base substitution C A intron_variant BRCA-FR 4 154190404 154190404 single base substitution C T intron_variant BRCA-FR 4 154203783 154203783 single base substitution G C intron_variant BRCA-FR 4 154207080 154207080 single base substitution A G intron_variant BRCA-FR 4 154208522 154208522 single base substitution C A intron_variant BRCA-FR 4 154225875 154225875 single base substitution C G intron_variant BRCA-FR 4 154244430 154244430 single base substitution G A intron_variant BRCA-FR 4 154257285 154257285 single base substitution T C 3_prime_UTR_variant BRCA-FR 4 154262517 154262517 single base substitution C T downstream_gene_variant BRCA-KR 4 154191586 154191586 single base substitution G C exon_variant BRCA-KR 4 154191586 154191586 single base substitution G C intron_variant BRCA-KR 4 154191586 154191586 single base substitution G C missense_variant D17H 49G>C BRCA-KR 4 154191586 154191586 single base substitution G C missense_variant D44H 130G>C BRCA-UK 4 154100984 154100984 single base substitution C G intron_variant BRCA-UK 4 154109163 154109163 single base substitution G A intron_variant BRCA-UK 4 154134919 154134919 single base substitution C G intron_variant BRCA-UK 4 154135221 154135221 single base substitution C A intron_variant BRCA-UK 4 154139724 154139724 single base substitution C G intron_variant BRCA-UK 4 154144810 154144810 single base substitution C T downstream_gene_variant BRCA-UK 4 154144810 154144810 single base substitution C T intron_variant BRCA-UK 4 154157360 154157360 single base substitution C G intron_variant BRCA-UK 4 154197175 154197175 single base substitution G C exon_variant BRCA-UK 4 154197175 154197175 single base substitution G C missense_variant V116L 346G>C BRCA-UK 4 154197175 154197175 single base substitution G C missense_variant V3L 7G>C BRCA-UK 4 154197175 154197175 single base substitution G C missense_variant V89L 265G>C BRCA-UK 4 154197500 154197500 single base substitution T G downstream_gene_variant BRCA-UK 4 154197500 154197500 single base substitution T G intron_variant BRCA-UK 4 154202075 154202075 single base substitution A T downstream_gene_variant BRCA-UK 4 154202075 154202075 single base substitution A T intron_variant BRCA-UK 4 154209318 154209318 single base substitution G C intron_variant BRCA-UK 4 154218418 154218418 single base substitution G T downstream_gene_variant BRCA-UK 4 154218418 154218418 single base substitution G T intron_variant BRCA-UK 4 154220270 154220270 single base substitution C G downstream_gene_variant BRCA-UK 4 154220270 154220270 single base substitution C G intron_variant BRCA-UK 4 154223779 154223779 single base substitution C A intron_variant BRCA-UK 4 154231705 154231705 single base substitution C T downstream_gene_variant BRCA-UK 4 154231705 154231705 single base substitution C T intron_variant BRCA-UK 4 154241156 154241156 single base substitution T C intron_variant BRCA-UK 4 154241156 154241156 single base substitution T C upstream_gene_variant BRCA-UK 4 154256957 154256957 single base substitution T A 3_prime_UTR_variant BRCA-US 4 154178697 154178697 single base substitution A G 5_prime_UTR_variant BRCA-US 4 154178697 154178697 single base substitution A G exon_variant BRCA-US 4 154178697 154178697 single base substitution A G intron_variant BRCA-US 4 154178844 154178844 single base substitution G A exon_variant BRCA-US 4 154178844 154178844 single base substitution G A intron_variant BRCA-US 4 154191510 154191510 single base substitution A G 5_prime_UTR_variant BRCA-US 4 154191510 154191510 single base substitution A G exon_variant BRCA-US 4 154191510 154191510 single base substitution A G intron_variant BRCA-US 4 154191510 154191510 single base substitution A G synonymous_variant T18T 54A>G BRCA-US 4 154191552 154191552 single base substitution C A exon_variant BRCA-US 4 154191552 154191552 single base substitution C A intron_variant BRCA-US 4 154191552 154191552 single base substitution C A synonymous_variant G32G 96C>A BRCA-US 4 154191552 154191552 single base substitution C A synonymous_variant G5G 15C>A BRCA-US 4 154191674 154191674 single base substitution A G exon_variant BRCA-US 4 154191674 154191674 single base substitution A G intron_variant BRCA-US 4 154191674 154191674 single base substitution A G splice_region_variant BRCA-US 4 154243810 154243810 single base substitution G T exon_variant BRCA-US 4 154243810 154243810 single base substitution G T missense_variant G571V 1712G>T BRCA-US 4 154243810 154243810 single base substitution G T missense_variant G598V 1793G>T BTCA-JP 4 154091327 154091327 single base substitution G A intron_variant BTCA-JP 4 154197101 154197101 single base substitution G A 5_prime_UTR_variant BTCA-JP 4 154197101 154197101 single base substitution G A exon_variant BTCA-JP 4 154197101 154197101 single base substitution G A missense_variant R64H 191G>A BTCA-JP 4 154197101 154197101 single base substitution G A missense_variant R91H 272G>A BTCA-JP 4 154214197 154214197 single base substitution C T downstream_gene_variant BTCA-JP 4 154214197 154214197 single base substitution C T exon_variant BTCA-JP 4 154214197 154214197 single base substitution C T intron_variant BTCA-JP 4 154214197 154214197 single base substitution C T missense_variant H146Y 436C>T BTCA-JP 4 154214197 154214197 single base substitution C T missense_variant H173Y 517C>T BTCA-JP 4 154214197 154214197 single base substitution C T missense_variant H60Y 178C>T BTCA-JP 4 154236925 154236925 single base substitution G A intron_variant BTCA-JP 4 154243851 154243851 single base substitution C T exon_variant BTCA-JP 4 154243851 154243851 single base substitution C T missense_variant R585C 1753C>T BTCA-JP 4 154243851 154243851 single base substitution C T missense_variant R612C 1834C>T BTCA-JP 4 154249666 154249666 single base substitution A T downstream_gene_variant BTCA-JP 4 154249666 154249666 single base substitution A T intron_variant CESC-US 4 154191652 154191652 single base substitution C T exon_variant CESC-US 4 154191652 154191652 single base substitution C T intron_variant CESC-US 4 154191652 154191652 single base substitution C T synonymous_variant L39L 115C>T CESC-US 4 154191652 154191652 single base substitution C T synonymous_variant L66L 196C>T CESC-US 4 154197120 154197120 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant CESC-US 4 154197120 154197120 single base substitution C T exon_variant CESC-US 4 154197120 154197120 single base substitution C T synonymous_variant P70P 210C>T CESC-US 4 154197120 154197120 single base substitution C T synonymous_variant P97P 291C>T CESC-US 4 154216602 154216602 single base substitution G A downstream_gene_variant CESC-US 4 154216602 154216602 single base substitution G A exon_variant CESC-US 4 154216602 154216602 single base substitution G A synonymous_variant L281L 843G>A CESC-US 4 154216602 154216602 single base substitution G A synonymous_variant L308L 924G>A CESC-US 4 154216995 154216995 single base substitution C T downstream_gene_variant CESC-US 4 154216995 154216995 single base substitution C T exon_variant CESC-US 4 154216995 154216995 single base substitution C T synonymous_variant I412I 1236C>T CESC-US 4 154216995 154216995 single base substitution C T synonymous_variant I439I 1317C>T CLLE-ES 4 154069151 154069151 insertion of <=200bp - T upstream_gene_variant CLLE-ES 4 154087740 154087740 single base substitution C T intron_variant CLLE-ES 4 154091304 154091304 single base substitution A G intron_variant CLLE-ES 4 154092147 154092147 single base substitution G A intron_variant CLLE-ES 4 154113797 154113797 single base substitution A C intron_variant CLLE-ES 4 154124173 154124173 single base substitution C T intron_variant CLLE-ES 4 154124173 154124173 single base substitution C T upstream_gene_variant CLLE-ES 4 154127363 154127363 single base substitution T A intron_variant CLLE-ES 4 154143194 154143194 insertion of <=200bp - GAGG intron_variant CLLE-ES 4 154143832 154143832 single base substitution G C downstream_gene_variant CLLE-ES 4 154143832 154143832 single base substitution G C intron_variant CLLE-ES 4 154166261 154166261 single base substitution G A intron_variant CLLE-ES 4 154179302 154179302 single base substitution C T intron_variant CLLE-ES 4 154194744 154194744 single base substitution C T downstream_gene_variant CLLE-ES 4 154194744 154194744 single base substitution C T intron_variant CLLE-ES 4 154204649 154204649 single base substitution A G intron_variant CLLE-ES 4 154219752 154219752 single base substitution A T downstream_gene_variant CLLE-ES 4 154219752 154219752 single base substitution A T intron_variant COAD-US 4 154197071 154197071 single base substitution A T 5_prime_UTR_variant COAD-US 4 154197071 154197071 single base substitution A T exon_variant COAD-US 4 154197071 154197071 single base substitution A T missense_variant H54L 161A>T COAD-US 4 154197071 154197071 single base substitution A T missense_variant H81L 242A>T COAD-US 4 154197268 154197268 single base substitution A C exon_variant COAD-US 4 154197268 154197268 single base substitution A C missense_variant N120H 358A>C COAD-US 4 154197268 154197268 single base substitution A C missense_variant N147H 439A>C COAD-US 4 154197268 154197268 single base substitution A C missense_variant N34H 100A>C COAD-US 4 154216477 154216477 single base substitution C T downstream_gene_variant COAD-US 4 154216477 154216477 single base substitution C T exon_variant COAD-US 4 154216477 154216477 single base substitution C T stop_gained Q240* 718C>T COAD-US 4 154216477 154216477 single base substitution C T stop_gained Q267* 799C>T COAD-US 4 154216535 154216535 single base substitution C T downstream_gene_variant COAD-US 4 154216535 154216535 single base substitution C T exon_variant COAD-US 4 154216535 154216535 single base substitution C T missense_variant A259V 776C>T COAD-US 4 154216535 154216535 single base substitution C T missense_variant A286V 857C>T COAD-US 4 154216996 154216996 single base substitution C T downstream_gene_variant COAD-US 4 154216996 154216996 single base substitution C T exon_variant COAD-US 4 154216996 154216996 single base substitution C T stop_gained R413* 1237C>T COAD-US 4 154216996 154216996 single base substitution C T stop_gained R440* 1318C>T COAD-US 4 154217072 154217072 single base substitution T C downstream_gene_variant COAD-US 4 154217072 154217072 single base substitution T C exon_variant COAD-US 4 154217072 154217072 single base substitution T C missense_variant V438A 1313T>C COAD-US 4 154217072 154217072 single base substitution T C missense_variant V465A 1394T>C COAD-US 4 154217171 154217171 single base substitution A T downstream_gene_variant COAD-US 4 154217171 154217171 single base substitution A T exon_variant COAD-US 4 154217171 154217171 single base substitution A T missense_variant D471V 1412A>T COAD-US 4 154217171 154217171 single base substitution A T missense_variant D498V 1493A>T COAD-US 4 154236677 154236677 deletion of <=200bp G - frameshift_variant Q490 COAD-US 4 154236677 154236677 deletion of <=200bp G - frameshift_variant Q517 COAD-US 4 154249753 154249753 single base substitution T A downstream_gene_variant COAD-US 4 154249753 154249753 single base substitution T A synonymous_variant A671A 2013T>A COAD-US 4 154249753 154249753 single base substitution T A synonymous_variant A698A 2094T>A COCA-CN 4 154091254 154091254 single base substitution A T intron_variant COCA-CN 4 154191552 154191552 single base substitution C A exon_variant COCA-CN 4 154191552 154191552 single base substitution C A intron_variant COCA-CN 4 154191552 154191552 single base substitution C A synonymous_variant G32G 96C>A COCA-CN 4 154191552 154191552 single base substitution C A synonymous_variant G5G 15C>A COCA-CN 4 154193643 154193643 single base substitution A T downstream_gene_variant COCA-CN 4 154193643 154193643 single base substitution A T intron_variant COCA-CN 4 154197101 154197101 single base substitution G A 5_prime_UTR_variant COCA-CN 4 154197101 154197101 single base substitution G A exon_variant COCA-CN 4 154197101 154197101 single base substitution G A missense_variant R64H 191G>A COCA-CN 4 154197101 154197101 single base substitution G A missense_variant R91H 272G>A COCA-CN 4 154214099 154214099 single base substitution C A intron_variant COCA-CN 4 154214210 154214210 single base substitution C T downstream_gene_variant COCA-CN 4 154214210 154214210 single base substitution C T exon_variant COCA-CN 4 154214210 154214210 single base substitution C T intron_variant COCA-CN 4 154214210 154214210 single base substitution C T missense_variant P150L 449C>T COCA-CN 4 154214210 154214210 single base substitution C T missense_variant P177L 530C>T COCA-CN 4 154214210 154214210 single base substitution C T missense_variant P64L 191C>T COCA-CN 4 154217164 154217164 single base substitution G A downstream_gene_variant COCA-CN 4 154217164 154217164 single base substitution G A exon_variant COCA-CN 4 154217164 154217164 single base substitution G A missense_variant E469K 1405G>A COCA-CN 4 154217164 154217164 single base substitution G A missense_variant E496K 1486G>A COCA-CN 4 154227155 154227155 single base substitution C T intron_variant COCA-CN 4 154236842 154236842 single base substitution A C intron_variant COCA-CN 4 154237068 154237068 single base substitution G A missense_variant A540T 1618G>A COCA-CN 4 154237068 154237068 single base substitution G A missense_variant A567T 1699G>A COCA-CN 4 154243886 154243886 single base substitution G A exon_variant COCA-CN 4 154243886 154243886 single base substitution G A synonymous_variant A596A 1788G>A COCA-CN 4 154243886 154243886 single base substitution G A synonymous_variant A623A 1869G>A EOPC-DE 4 154076808 154076808 single base substitution T C intron_variant EOPC-DE 4 154245978 154245978 single base substitution G A downstream_gene_variant EOPC-DE 4 154245978 154245978 single base substitution G A intron_variant ESAD-UK 4 154070039 154070039 single base substitution T G upstream_gene_variant ESAD-UK 4 154071819 154071819 single base substitution G A upstream_gene_variant ESAD-UK 4 154076072 154076072 single base substitution A G intron_variant ESAD-UK 4 154076518 154076518 single base substitution G A intron_variant ESAD-UK 4 154076588 154076588 single base substitution A G intron_variant ESAD-UK 4 154077278 154077278 single base substitution G A intron_variant ESAD-UK 4 154078101 154078101 single base substitution C G intron_variant ESAD-UK 4 154078367 154078367 single base substitution T G downstream_gene_variant ESAD-UK 4 154078367 154078367 single base substitution T G intron_variant ESAD-UK 4 154082201 154082201 single base substitution G T downstream_gene_variant ESAD-UK 4 154082201 154082201 single base substitution G T intron_variant ESAD-UK 4 154085393 154085393 single base substitution C A intron_variant ESAD-UK 4 154086111 154086111 single base substitution T A intron_variant ESAD-UK 4 154090256 154090256 single base substitution C G intron_variant ESAD-UK 4 154090684 154090684 deletion of <=200bp T - intron_variant ESAD-UK 4 154092276 154092276 single base substitution A G intron_variant ESAD-UK 4 154094119 154094119 single base substitution G T intron_variant ESAD-UK 4 154095732 154095732 single base substitution T G intron_variant ESAD-UK 4 154097912 154097912 single base substitution G A intron_variant ESAD-UK 4 154100170 154100170 single base substitution C A intron_variant ESAD-UK 4 154102625 154102625 single base substitution T G intron_variant ESAD-UK 4 154103112 154103112 single base substitution A G intron_variant ESAD-UK 4 154104114 154104114 single base substitution C G intron_variant ESAD-UK 4 154106152 154106152 single base substitution C A intron_variant ESAD-UK 4 154112014 154112014 single base substitution C T intron_variant ESAD-UK 4 154112746 154112746 deletion of <=200bp T - intron_variant ESAD-UK 4 154113007 154113007 single base substitution C A intron_variant ESAD-UK 4 154114564 154114564 single base substitution T C intron_variant ESAD-UK 4 154116387 154116387 single base substitution G T intron_variant ESAD-UK 4 154117325 154117325 single base substitution C T intron_variant ESAD-UK 4 154117425 154117425 deletion of <=200bp A - intron_variant ESAD-UK 4 154120897 154120897 single base substitution A C intron_variant ESAD-UK 4 154120897 154120897 single base substitution A C upstream_gene_variant ESAD-UK 4 154126720 154126720 single base substitution C G intron_variant ESAD-UK 4 154127977 154127977 single base substitution C A intron_variant ESAD-UK 4 154129342 154129342 single base substitution C T intron_variant ESAD-UK 4 154130627 154130627 single base substitution C T intron_variant ESAD-UK 4 154132647 154132647 single base substitution T C intron_variant ESAD-UK 4 154136963 154136963 insertion of <=200bp - T intron_variant ESAD-UK 4 154139789 154139789 single base substitution C G intron_variant ESAD-UK 4 154140213 154140213 single base substitution C G intron_variant ESAD-UK 4 154140225 154140225 single base substitution T A intron_variant ESAD-UK 4 154142168 154142168 single base substitution A C intron_variant ESAD-UK 4 154145033 154145033 single base substitution C T downstream_gene_variant ESAD-UK 4 154145033 154145033 single base substitution C T intron_variant ESAD-UK 4 154147134 154147134 single base substitution C T downstream_gene_variant ESAD-UK 4 154147134 154147134 single base substitution C T intron_variant ESAD-UK 4 154148227 154148227 single base substitution T C downstream_gene_variant ESAD-UK 4 154148227 154148227 single base substitution T C intron_variant ESAD-UK 4 154150727 154150727 single base substitution A G intron_variant ESAD-UK 4 154153495 154153495 insertion of <=200bp - ATAAATAAATAA intron_variant ESAD-UK 4 154154191 154154191 single base substitution C T intron_variant ESAD-UK 4 154154764 154154764 single base substitution G A intron_variant ESAD-UK 4 154158724 154158724 single base substitution C G intron_variant ESAD-UK 4 154159283 154159283 single base substitution C T intron_variant ESAD-UK 4 154159806 154159806 single base substitution A T intron_variant ESAD-UK 4 154160825 154160827 deletion of <=200bp TCT - intron_variant ESAD-UK 4 154161065 154161065 single base substitution C T intron_variant ESAD-UK 4 154164366 154164366 single base substitution A G intron_variant ESAD-UK 4 154164970 154164970 single base substitution T C intron_variant ESAD-UK 4 154166217 154166217 single base substitution C T intron_variant ESAD-UK 4 154166497 154166497 single base substitution T G intron_variant ESAD-UK 4 154168009 154168009 single base substitution C T intron_variant ESAD-UK 4 154168096 154168096 single base substitution A G intron_variant ESAD-UK 4 154168199 154168199 single base substitution C T intron_variant ESAD-UK 4 154170373 154170373 single base substitution A G intron_variant ESAD-UK 4 154172246 154172246 single base substitution T G intron_variant ESAD-UK 4 154173674 154173674 insertion of <=200bp - T intron_variant ESAD-UK 4 154173674 154173674 insertion of <=200bp - T upstream_gene_variant ESAD-UK 4 154175732 154175732 single base substitution C T intron_variant ESAD-UK 4 154175732 154175732 single base substitution C T upstream_gene_variant ESAD-UK 4 154178632 154178632 single base substitution A G 5_prime_UTR_variant ESAD-UK 4 154178632 154178632 single base substitution A G exon_variant ESAD-UK 4 154178632 154178632 single base substitution A G intron_variant ESAD-UK 4 154180189 154180189 insertion of <=200bp - TC intron_variant ESAD-UK 4 154184192 154184192 single base substitution C T intron_variant ESAD-UK 4 154186479 154186479 single base substitution T G intron_variant ESAD-UK 4 154186503 154186503 single base substitution A T intron_variant ESAD-UK 4 154188192 154188192 single base substitution C G intron_variant ESAD-UK 4 154188735 154188735 single base substitution G A intron_variant ESAD-UK 4 154189068 154189068 single base substitution A G intron_variant ESAD-UK 4 154190560 154190560 insertion of <=200bp - GA intron_variant ESAD-UK 4 154192818 154192818 single base substitution G T downstream_gene_variant ESAD-UK 4 154192818 154192818 single base substitution G T intron_variant ESAD-UK 4 154194724 154194724 single base substitution C T downstream_gene_variant ESAD-UK 4 154194724 154194724 single base substitution C T intron_variant ESAD-UK 4 154194886 154194886 single base substitution A C downstream_gene_variant ESAD-UK 4 154194886 154194886 single base substitution A C intron_variant ESAD-UK 4 154196314 154196314 single base substitution G T downstream_gene_variant ESAD-UK 4 154196314 154196314 single base substitution G T intron_variant ESAD-UK 4 154197034 154197034 single base substitution T G intron_variant ESAD-UK 4 154201935 154201935 single base substitution C T downstream_gene_variant ESAD-UK 4 154201935 154201935 single base substitution C T intron_variant ESAD-UK 4 154201996 154201996 single base substitution T C downstream_gene_variant ESAD-UK 4 154201996 154201996 single base substitution T C intron_variant ESAD-UK 4 154202314 154202314 single base substitution T A downstream_gene_variant ESAD-UK 4 154202314 154202314 single base substitution T A intron_variant ESAD-UK 4 154204080 154204080 single base substitution A G intron_variant ESAD-UK 4 154205199 154205199 insertion of <=200bp - A intron_variant ESAD-UK 4 154208305 154208305 insertion of <=200bp - T intron_variant ESAD-UK 4 154208309 154208309 single base substitution T G intron_variant ESAD-UK 4 154211442 154211465 deletion of <=200bp ATGAGGCTTATATATTGTTACCAA - intron_variant ESAD-UK 4 154212248 154212248 single base substitution A G intron_variant ESAD-UK 4 154212276 154212276 single base substitution A T intron_variant ESAD-UK 4 154213322 154213322 single base substitution A G intron_variant ESAD-UK 4 154220656 154220657 deletion of <=200bp TT - downstream_gene_variant ESAD-UK 4 154220656 154220657 deletion of <=200bp TT - intron_variant ESAD-UK 4 154222290 154222290 single base substitution C T intron_variant ESAD-UK 4 154224344 154224344 single base substitution C T intron_variant ESAD-UK 4 154225393 154225393 single base substitution G A intron_variant ESAD-UK 4 154227195 154227195 single base substitution C T intron_variant ESAD-UK 4 154228642 154228642 single base substitution A G intron_variant ESAD-UK 4 154234069 154234069 single base substitution A T downstream_gene_variant ESAD-UK 4 154234069 154234069 single base substitution A T intron_variant ESAD-UK 4 154236875 154236875 insertion of <=200bp - A intron_variant ESAD-UK 4 154237958 154237958 single base substitution C A intron_variant ESAD-UK 4 154242403 154242403 single base substitution G A intron_variant ESAD-UK 4 154242403 154242403 single base substitution G A upstream_gene_variant ESAD-UK 4 154243512 154243512 single base substitution G A intron_variant ESAD-UK 4 154243512 154243512 single base substitution G A upstream_gene_variant ESAD-UK 4 154245682 154245682 single base substitution G A downstream_gene_variant ESAD-UK 4 154245682 154245682 single base substitution G A intron_variant ESAD-UK 4 154246369 154246369 insertion of <=200bp - GATCTTTTT downstream_gene_variant ESAD-UK 4 154246369 154246369 insertion of <=200bp - GATCTTTTT intron_variant ESAD-UK 4 154248651 154248651 single base substitution T C downstream_gene_variant ESAD-UK 4 154248651 154248651 single base substitution T C intron_variant ESAD-UK 4 154256311 154256311 insertion of <=200bp - A 3_prime_UTR_variant ESAD-UK 4 154257101 154257101 single base substitution G A 3_prime_UTR_variant ESAD-UK 4 154259143 154259143 insertion of <=200bp - T 3_prime_UTR_variant ESAD-UK 4 154259143 154259143 insertion of <=200bp - T downstream_gene_variant ESAD-UK 4 154259501 154259501 single base substitution C G 3_prime_UTR_variant ESAD-UK 4 154259501 154259501 single base substitution C G downstream_gene_variant ESAD-UK 4 154260102 154260102 deletion of <=200bp G - 3_prime_UTR_variant ESAD-UK 4 154260102 154260102 deletion of <=200bp G - downstream_gene_variant GBM-US 4 154215581 154215581 single base substitution G A downstream_gene_variant GBM-US 4 154215581 154215581 single base substitution G A exon_variant GBM-US 4 154215581 154215581 single base substitution G A intron_variant GBM-US 4 154215581 154215581 single base substitution G A missense_variant V217M 649G>A GBM-US 4 154215581 154215581 single base substitution G A missense_variant V244M 730G>A KIRC-US 4 154197264 154197264 single base substitution C T exon_variant KIRC-US 4 154197264 154197264 single base substitution C T synonymous_variant C118C 354C>T KIRC-US 4 154197264 154197264 single base substitution C T synonymous_variant C145C 435C>T KIRC-US 4 154197264 154197264 single base substitution C T synonymous_variant C32C 96C>T KIRC-US 4 154216562 154216562 single base substitution C A downstream_gene_variant KIRC-US 4 154216562 154216562 single base substitution C A exon_variant KIRC-US 4 154216562 154216562 single base substitution C A missense_variant T268N 803C>A KIRC-US 4 154216562 154216562 single base substitution C A missense_variant T295N 884C>A KIRP-US 4 154215496 154215496 single base substitution A T downstream_gene_variant KIRP-US 4 154215496 154215496 single base substitution A T exon_variant KIRP-US 4 154215496 154215496 single base substitution A T intron_variant KIRP-US 4 154215496 154215496 single base substitution A T missense_variant E102D 306A>T KIRP-US 4 154215496 154215496 single base substitution A T missense_variant E188D 564A>T KIRP-US 4 154215496 154215496 single base substitution A T missense_variant E215D 645A>T KIRP-US 4 154237027 154237027 deletion of <=200bp G - frameshift_variant R526 KIRP-US 4 154237027 154237027 deletion of <=200bp G - frameshift_variant R553 KIRP-US 4 154249812 154249812 single base substitution G A downstream_gene_variant KIRP-US 4 154249812 154249812 single base substitution G A missense_variant S691N 2072G>A KIRP-US 4 154249812 154249812 single base substitution G A missense_variant S718N 2153G>A LAML-KR 4 154165465 154165465 single base substitution C T intron_variant LAML-KR 4 154165474 154165474 single base substitution T C intron_variant LAML-KR 4 154165500 154165500 single base substitution C T intron_variant LAML-KR 4 154165519 154165519 single base substitution T C intron_variant LAML-KR 4 154233237 154233237 single base substitution C T downstream_gene_variant LAML-KR 4 154233237 154233237 single base substitution C T intron_variant LICA-FR 4 154069172 154069172 single base substitution G T upstream_gene_variant LICA-FR 4 154079457 154079457 single base substitution A T downstream_gene_variant LICA-FR 4 154079457 154079457 single base substitution A T intron_variant LICA-FR 4 154085500 154085500 single base substitution A C intron_variant LICA-FR 4 154089427 154089427 single base substitution G A intron_variant LICA-FR 4 154096426 154096426 single base substitution C T intron_variant LICA-FR 4 154106723 154106723 single base substitution T A intron_variant LICA-FR 4 154155960 154155960 single base substitution G A intron_variant LICA-FR 4 154196990 154196990 single base substitution T A intron_variant LICA-FR 4 154217825 154217825 single base substitution A G downstream_gene_variant LICA-FR 4 154217825 154217825 single base substitution A G intron_variant LICA-FR 4 154233601 154233601 single base substitution T G downstream_gene_variant LICA-FR 4 154233601 154233601 single base substitution T G intron_variant LICA-FR 4 154248132 154248133 deletion of <=200bp AA - downstream_gene_variant LICA-FR 4 154248132 154248133 deletion of <=200bp AA - intron_variant LINC-JP 4 154069908 154069908 deletion of <=200bp A - upstream_gene_variant LINC-JP 4 154092633 154092633 single base substitution G C intron_variant LINC-JP 4 154100666 154100666 single base substitution C A intron_variant LINC-JP 4 154106783 154106783 single base substitution G A intron_variant LINC-JP 4 154109769 154109769 single base substitution G A intron_variant LINC-JP 4 154110175 154110175 single base substitution C A intron_variant LINC-JP 4 154124731 154124731 single base substitution C G intron_variant LINC-JP 4 154124731 154124731 single base substitution C G upstream_gene_variant LINC-JP 4 154133641 154133641 single base substitution C T intron_variant LINC-JP 4 154143968 154143968 single base substitution T C downstream_gene_variant LINC-JP 4 154143968 154143968 single base substitution T C intron_variant LINC-JP 4 154145015 154145015 single base substitution C A downstream_gene_variant LINC-JP 4 154145015 154145015 single base substitution C A intron_variant LINC-JP 4 154146822 154146822 single base substitution G T downstream_gene_variant LINC-JP 4 154146822 154146822 single base substitution G T intron_variant LINC-JP 4 154152569 154152569 single base substitution A G intron_variant LINC-JP 4 154161951 154161951 single base substitution C T intron_variant LINC-JP 4 154161952 154161952 single base substitution C T intron_variant LINC-JP 4 154183179 154183179 single base substitution C A intron_variant LINC-JP 4 154196534 154196534 single base substitution T C downstream_gene_variant LINC-JP 4 154196534 154196534 single base substitution T C intron_variant LINC-JP 4 154197087 154197087 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant LINC-JP 4 154197087 154197087 single base substitution C A exon_variant LINC-JP 4 154197087 154197087 single base substitution C A synonymous_variant S59S 177C>A LINC-JP 4 154197087 154197087 single base substitution C A synonymous_variant S86S 258C>A LINC-JP 4 154198221 154198221 single base substitution A G downstream_gene_variant LINC-JP 4 154198221 154198221 single base substitution A G intron_variant LINC-JP 4 154211121 154211121 single base substitution G T intron_variant LINC-JP 4 154230960 154230960 single base substitution A G exon_variant LINC-JP 4 154230960 154230960 single base substitution A G intron_variant LINC-JP 4 154237803 154237803 single base substitution A G intron_variant LINC-JP 4 154241888 154241888 single base substitution G A intron_variant LINC-JP 4 154241888 154241888 single base substitution G A upstream_gene_variant LINC-JP 4 154243775 154243775 single base substitution C A intron_variant LINC-JP 4 154243775 154243775 single base substitution C A upstream_gene_variant LINC-JP 4 154244115 154244115 single base substitution A T intron_variant LINC-JP 4 154252966 154252966 single base substitution A C intron_variant LINC-JP 4 154256748 154256748 single base substitution A T 3_prime_UTR_variant LIRI-JP 4 154068996 154068996 single base substitution A G upstream_gene_variant LIRI-JP 4 154070965 154070965 single base substitution A G upstream_gene_variant LIRI-JP 4 154071094 154071094 single base substitution A G upstream_gene_variant LIRI-JP 4 154071388 154071388 single base substitution A G upstream_gene_variant LIRI-JP 4 154071711 154071711 single base substitution G A upstream_gene_variant LIRI-JP 4 154073176 154073176 single base substitution G A upstream_gene_variant LIRI-JP 4 154073645 154073645 single base substitution T G 5_prime_UTR_variant LIRI-JP 4 154073645 154073645 single base substitution T G exon_variant LIRI-JP 4 154073645 154073645 single base substitution T G upstream_gene_variant LIRI-JP 4 154073790 154073790 deletion of <=200bp G - intron_variant LIRI-JP 4 154073790 154073790 deletion of <=200bp G - upstream_gene_variant LIRI-JP 4 154074390 154074390 single base substitution G A 5_prime_UTR_variant LIRI-JP 4 154074390 154074390 single base substitution G A intron_variant LIRI-JP 4 154075357 154075357 single base substitution T C intron_variant LIRI-JP 4 154075923 154075923 single base substitution T A intron_variant LIRI-JP 4 154077953 154077953 single base substitution A G exon_variant LIRI-JP 4 154077953 154077953 single base substitution A G intron_variant LIRI-JP 4 154080214 154080214 single base substitution A G downstream_gene_variant LIRI-JP 4 154080214 154080214 single base substitution A G intron_variant LIRI-JP 4 154081435 154081435 single base substitution C A downstream_gene_variant LIRI-JP 4 154081435 154081435 single base substitution C A intron_variant LIRI-JP 4 154084341 154084341 deletion of <=200bp C - intron_variant LIRI-JP 4 154085180 154085180 single base substitution A G intron_variant LIRI-JP 4 154085642 154085642 single base substitution T C intron_variant LIRI-JP 4 154086464 154086464 single base substitution C A intron_variant LIRI-JP 4 154086465 154086465 single base substitution C A intron_variant LIRI-JP 4 154086961 154086961 single base substitution T C intron_variant LIRI-JP 4 154088485 154088485 single base substitution C T intron_variant LIRI-JP 4 154090963 154090963 single base substitution A G intron_variant LIRI-JP 4 154092152 154092152 single base substitution A T intron_variant LIRI-JP 4 154094159 154094159 single base substitution T A intron_variant LIRI-JP 4 154094926 154094926 single base substitution C T intron_variant LIRI-JP 4 154097190 154097190 single base substitution T C intron_variant LIRI-JP 4 154097265 154097265 single base substitution G C intron_variant LIRI-JP 4 154106983 154106983 single base substitution A G intron_variant LIRI-JP 4 154108716 154108716 single base substitution G A intron_variant LIRI-JP 4 154110080 154110080 single base substitution C A intron_variant LIRI-JP 4 154110667 154110667 single base substitution G A intron_variant LIRI-JP 4 154111624 154111624 single base substitution C T intron_variant LIRI-JP 4 154114891 154114891 single base substitution A T intron_variant LIRI-JP 4 154115299 154115299 single base substitution A G intron_variant LIRI-JP 4 154116131 154116131 single base substitution C T intron_variant LIRI-JP 4 154116210 154116210 single base substitution T C intron_variant LIRI-JP 4 154116630 154116630 single base substitution T C intron_variant LIRI-JP 4 154116992 154116992 single base substitution C T intron_variant LIRI-JP 4 154117389 154117389 single base substitution C A intron_variant LIRI-JP 4 154118064 154118064 single base substitution G A intron_variant LIRI-JP 4 154120099 154120099 single base substitution T C intron_variant LIRI-JP 4 154120864 154120864 single base substitution A G intron_variant LIRI-JP 4 154120864 154120864 single base substitution A G upstream_gene_variant LIRI-JP 4 154120902 154120902 single base substitution T A intron_variant LIRI-JP 4 154120902 154120902 single base substitution T A upstream_gene_variant LIRI-JP 4 154121251 154121251 single base substitution C G intron_variant LIRI-JP 4 154121251 154121251 single base substitution C G upstream_gene_variant LIRI-JP 4 154121665 154121665 single base substitution T G intron_variant LIRI-JP 4 154121665 154121665 single base substitution T G upstream_gene_variant LIRI-JP 4 154122314 154122314 single base substitution C T intron_variant LIRI-JP 4 154122314 154122314 single base substitution C T upstream_gene_variant LIRI-JP 4 154126173 154126173 single base substitution C T intron_variant LIRI-JP 4 154128306 154128306 single base substitution A G intron_variant LIRI-JP 4 154129697 154129697 single base substitution G T intron_variant LIRI-JP 4 154130214 154130214 single base substitution A G intron_variant LIRI-JP 4 154132519 154132519 single base substitution T A intron_variant LIRI-JP 4 154134490 154134490 single base substitution A G intron_variant LIRI-JP 4 154134667 154134667 single base substitution C G intron_variant LIRI-JP 4 154137706 154137706 single base substitution C A intron_variant LIRI-JP 4 154141482 154141483 deletion of <=200bp GA - intron_variant LIRI-JP 4 154143737 154143737 single base substitution C A exon_variant LIRI-JP 4 154143737 154143737 single base substitution C A intron_variant LIRI-JP 4 154145660 154145660 single base substitution A G downstream_gene_variant LIRI-JP 4 154145660 154145660 single base substitution A G intron_variant LIRI-JP 4 154146345 154146345 single base substitution C A downstream_gene_variant LIRI-JP 4 154146345 154146345 single base substitution C A intron_variant LIRI-JP 4 154146839 154146839 single base substitution G T downstream_gene_variant LIRI-JP 4 154146839 154146839 single base substitution G T intron_variant LIRI-JP 4 154147884 154147884 single base substitution G T downstream_gene_variant LIRI-JP 4 154147884 154147884 single base substitution G T intron_variant LIRI-JP 4 154148444 154148444 single base substitution A G downstream_gene_variant LIRI-JP 4 154148444 154148444 single base substitution A G intron_variant LIRI-JP 4 154153649 154153649 single base substitution C T intron_variant LIRI-JP 4 154156053 154156053 single base substitution A G intron_variant LIRI-JP 4 154157714 154157714 single base substitution A G intron_variant LIRI-JP 4 154161996 154161996 single base substitution C T intron_variant LIRI-JP 4 154162424 154162424 single base substitution G A intron_variant LIRI-JP 4 154166579 154166579 single base substitution A G intron_variant LIRI-JP 4 154167967 154167967 single base substitution T A intron_variant LIRI-JP 4 154171188 154171188 single base substitution A G intron_variant LIRI-JP 4 154171868 154171868 single base substitution C G intron_variant LIRI-JP 4 154172270 154172270 single base substitution G T intron_variant LIRI-JP 4 154177110 154177110 single base substitution G C intron_variant LIRI-JP 4 154177110 154177110 single base substitution G C upstream_gene_variant LIRI-JP 4 154177894 154177894 single base substitution C T intron_variant LIRI-JP 4 154177894 154177894 single base substitution C T upstream_gene_variant LIRI-JP 4 154177898 154177898 single base substitution G C intron_variant LIRI-JP 4 154177898 154177898 single base substitution G C upstream_gene_variant LIRI-JP 4 154179122 154179122 single base substitution A T intron_variant LIRI-JP 4 154179244 154179244 single base substitution A G intron_variant LIRI-JP 4 154179626 154179626 single base substitution G T intron_variant LIRI-JP 4 154180261 154180261 single base substitution A C intron_variant LIRI-JP 4 154180793 154180793 single base substitution C A intron_variant LIRI-JP 4 154182455 154182455 single base substitution A C intron_variant LIRI-JP 4 154183053 154183053 single base substitution A G intron_variant LIRI-JP 4 154183621 154183621 single base substitution G T intron_variant LIRI-JP 4 154184557 154184557 single base substitution G T intron_variant LIRI-JP 4 154186107 154186107 single base substitution T G intron_variant LIRI-JP 4 154186170 154186170 single base substitution A G intron_variant LIRI-JP 4 154187470 154187470 single base substitution T C intron_variant LIRI-JP 4 154189993 154189993 single base substitution T C intron_variant LIRI-JP 4 154190065 154190065 single base substitution C T intron_variant LIRI-JP 4 154191516 154191516 single base substitution C A 5_prime_UTR_variant LIRI-JP 4 154191516 154191516 single base substitution C A exon_variant LIRI-JP 4 154191516 154191516 single base substitution C A intron_variant LIRI-JP 4 154191516 154191516 single base substitution C A synonymous_variant G20G 60C>A LIRI-JP 4 154191943 154191943 single base substitution A C downstream_gene_variant LIRI-JP 4 154191943 154191943 single base substitution A C intron_variant LIRI-JP 4 154197138 154197138 single base substitution G A 5_prime_UTR_variant LIRI-JP 4 154197138 154197138 single base substitution G A exon_variant LIRI-JP 4 154197138 154197138 single base substitution G A synonymous_variant A103A 309G>A LIRI-JP 4 154197138 154197138 single base substitution G A synonymous_variant A76A 228G>A LIRI-JP 4 154197711 154197711 single base substitution G A downstream_gene_variant LIRI-JP 4 154197711 154197711 single base substitution G A intron_variant LIRI-JP 4 154200799 154200799 single base substitution A C downstream_gene_variant LIRI-JP 4 154200799 154200799 single base substitution A C intron_variant LIRI-JP 4 154201337 154201337 single base substitution A T downstream_gene_variant LIRI-JP 4 154201337 154201337 single base substitution A T intron_variant LIRI-JP 4 154201338 154201338 single base substitution G T downstream_gene_variant LIRI-JP 4 154201338 154201338 single base substitution G T intron_variant LIRI-JP 4 154202748 154202748 insertion of <=200bp - T intron_variant LIRI-JP 4 154204057 154204057 single base substitution C T intron_variant LIRI-JP 4 154206012 154206012 single base substitution G A intron_variant LIRI-JP 4 154208968 154208968 single base substitution A G intron_variant LIRI-JP 4 154209460 154209460 single base substitution G A intron_variant LIRI-JP 4 154209949 154209949 single base substitution A G intron_variant LIRI-JP 4 154209998 154209998 single base substitution C T intron_variant LIRI-JP 4 154212676 154212676 single base substitution T A intron_variant LIRI-JP 4 154220108 154220108 single base substitution C G downstream_gene_variant LIRI-JP 4 154220108 154220108 single base substitution C G intron_variant LIRI-JP 4 154225025 154225025 single base substitution A G intron_variant LIRI-JP 4 154225094 154225094 single base substitution G A intron_variant LIRI-JP 4 154228056 154228056 single base substitution T C intron_variant LIRI-JP 4 154230501 154230501 single base substitution T G intron_variant LIRI-JP 4 154230926 154230926 single base substitution C A exon_variant LIRI-JP 4 154230926 154230926 single base substitution C A intron_variant LIRI-JP 4 154231171 154231171 single base substitution A G exon_variant LIRI-JP 4 154231171 154231171 single base substitution A G intron_variant LIRI-JP 4 154232035 154232035 single base substitution G A downstream_gene_variant LIRI-JP 4 154232035 154232035 single base substitution G A intron_variant LIRI-JP 4 154235718 154235718 single base substitution C A downstream_gene_variant LIRI-JP 4 154235718 154235718 single base substitution C A intron_variant LIRI-JP 4 154238839 154238839 single base substitution G A intron_variant LIRI-JP 4 154238839 154238839 single base substitution G A upstream_gene_variant LIRI-JP 4 154239166 154239166 single base substitution T C intron_variant LIRI-JP 4 154239166 154239166 single base substitution T C upstream_gene_variant LIRI-JP 4 154239377 154239377 single base substitution A G intron_variant LIRI-JP 4 154239377 154239377 single base substitution A G upstream_gene_variant LIRI-JP 4 154240104 154240104 single base substitution A G intron_variant LIRI-JP 4 154240104 154240104 single base substitution A G upstream_gene_variant LIRI-JP 4 154241011 154241011 single base substitution G C intron_variant LIRI-JP 4 154241011 154241011 single base substitution G C upstream_gene_variant LIRI-JP 4 154242725 154242725 single base substitution C T intron_variant LIRI-JP 4 154242725 154242725 single base substitution C T upstream_gene_variant LIRI-JP 4 154243671 154243671 single base substitution A G intron_variant LIRI-JP 4 154243671 154243671 single base substitution A G upstream_gene_variant LIRI-JP 4 154244332 154244332 single base substitution A G intron_variant LIRI-JP 4 154244387 154244387 single base substitution A G intron_variant LIRI-JP 4 154250444 154250444 single base substitution A G downstream_gene_variant LIRI-JP 4 154250444 154250444 single base substitution A G intron_variant LIRI-JP 4 154250659 154250659 single base substitution A C intron_variant LIRI-JP 4 154250832 154250832 single base substitution A G intron_variant LIRI-JP 4 154251807 154251807 single base substitution C T intron_variant LIRI-JP 4 154251919 154251919 single base substitution A C intron_variant LIRI-JP 4 154259469 154259469 single base substitution A G 3_prime_UTR_variant LIRI-JP 4 154259469 154259469 single base substitution A G downstream_gene_variant LIRI-JP 4 154260222 154260222 single base substitution T G 3_prime_UTR_variant LIRI-JP 4 154260222 154260222 single base substitution T G downstream_gene_variant LIRI-JP 4 154260227 154260227 single base substitution T G 3_prime_UTR_variant LIRI-JP 4 154260227 154260227 single base substitution T G downstream_gene_variant LIRI-JP 4 154260394 154260394 single base substitution G A 3_prime_UTR_variant LIRI-JP 4 154260394 154260394 single base substitution G A downstream_gene_variant LIRI-JP 4 154261778 154261778 single base substitution T C downstream_gene_variant LUSC-KR 4 154069106 154069106 single base substitution C A upstream_gene_variant LUSC-KR 4 154072398 154072398 single base substitution C A upstream_gene_variant LUSC-KR 4 154078757 154078757 single base substitution C T downstream_gene_variant LUSC-KR 4 154078757 154078757 single base substitution C T intron_variant LUSC-KR 4 154080471 154080471 single base substitution G T downstream_gene_variant LUSC-KR 4 154080471 154080471 single base substitution G T intron_variant LUSC-KR 4 154088961 154088961 single base substitution G T intron_variant LUSC-KR 4 154090540 154090540 single base substitution C T intron_variant LUSC-KR 4 154095706 154095706 single base substitution C T intron_variant LUSC-KR 4 154118724 154118724 single base substitution G A intron_variant LUSC-KR 4 154118935 154118935 single base substitution G A intron_variant LUSC-KR 4 154119056 154119056 single base substitution G A intron_variant LUSC-KR 4 154125063 154125063 single base substitution A T intron_variant LUSC-KR 4 154125063 154125063 single base substitution A T upstream_gene_variant LUSC-KR 4 154125435 154125435 single base substitution T C intron_variant LUSC-KR 4 154125435 154125435 single base substitution T C upstream_gene_variant LUSC-KR 4 154131235 154131235 single base substitution G T intron_variant LUSC-KR 4 154136041 154136041 single base substitution C T intron_variant LUSC-KR 4 154156698 154156698 single base substitution A G intron_variant LUSC-KR 4 154164970 154164970 single base substitution T C intron_variant LUSC-KR 4 154165465 154165465 single base substitution C T intron_variant LUSC-KR 4 154165516 154165516 single base substitution T C intron_variant LUSC-KR 4 154165571 154165571 single base substitution T C intron_variant LUSC-KR 4 154172390 154172390 single base substitution C A intron_variant LUSC-KR 4 154173058 154173058 single base substitution A G intron_variant LUSC-KR 4 154179523 154179523 single base substitution A G intron_variant LUSC-KR 4 154181838 154181838 single base substitution A C intron_variant LUSC-KR 4 154184469 154184469 single base substitution A T intron_variant LUSC-KR 4 154188392 154188392 single base substitution G A intron_variant LUSC-KR 4 154197234 154197234 single base substitution T G exon_variant LUSC-KR 4 154197234 154197234 single base substitution T G synonymous_variant T108T 324T>G LUSC-KR 4 154197234 154197234 single base substitution T G synonymous_variant T135T 405T>G LUSC-KR 4 154197234 154197234 single base substitution T G synonymous_variant T22T 66T>G LUSC-KR 4 154202870 154202870 single base substitution C T intron_variant LUSC-KR 4 154204810 154204810 single base substitution G T intron_variant LUSC-KR 4 154207240 154207240 single base substitution T A intron_variant LUSC-KR 4 154210408 154210408 single base substitution G C intron_variant LUSC-KR 4 154215652 154215652 single base substitution A G downstream_gene_variant LUSC-KR 4 154215652 154215652 single base substitution A G intron_variant LUSC-KR 4 154216695 154216695 single base substitution C T downstream_gene_variant LUSC-KR 4 154216695 154216695 single base substitution C T exon_variant LUSC-KR 4 154216695 154216695 single base substitution C T synonymous_variant I312I 936C>T LUSC-KR 4 154216695 154216695 single base substitution C T synonymous_variant I339I 1017C>T LUSC-KR 4 154221366 154221366 single base substitution G T downstream_gene_variant LUSC-KR 4 154221366 154221366 single base substitution G T intron_variant LUSC-KR 4 154229100 154229100 single base substitution G A intron_variant LUSC-KR 4 154233601 154233601 single base substitution T G downstream_gene_variant LUSC-KR 4 154233601 154233601 single base substitution T G intron_variant LUSC-KR 4 154247021 154247021 single base substitution T C downstream_gene_variant LUSC-KR 4 154247021 154247021 single base substitution T C intron_variant LUSC-KR 4 154247139 154247139 single base substitution C A downstream_gene_variant LUSC-KR 4 154247139 154247139 single base substitution C A intron_variant LUSC-KR 4 154256895 154256895 single base substitution C T 3_prime_UTR_variant LUSC-US 4 154197105 154197105 single base substitution G T 5_prime_UTR_variant LUSC-US 4 154197105 154197105 single base substitution G T exon_variant LUSC-US 4 154197105 154197105 single base substitution G T missense_variant Q65H 195G>T LUSC-US 4 154197105 154197105 single base substitution G T missense_variant Q92H 276G>T LUSC-US 4 154217020 154217020 single base substitution G A downstream_gene_variant LUSC-US 4 154217020 154217020 single base substitution G A exon_variant LUSC-US 4 154217020 154217020 single base substitution G A missense_variant V421M 1261G>A LUSC-US 4 154217020 154217020 single base substitution G A missense_variant V448M 1342G>A LUSC-US 4 154237038 154237038 single base substitution C T missense_variant P530S 1588C>T LUSC-US 4 154237038 154237038 single base substitution C T missense_variant P557S 1669C>T MALY-DE 4 154088212 154088212 single base substitution A C intron_variant MALY-DE 4 154092763 154092763 single base substitution T A intron_variant MALY-DE 4 154096082 154096082 single base substitution C T intron_variant MALY-DE 4 154107501 154107501 single base substitution G C intron_variant MALY-DE 4 154116964 154116964 deletion of <=200bp T - intron_variant MALY-DE 4 154116976 154116976 deletion of <=200bp T - intron_variant MALY-DE 4 154117423 154117423 single base substitution C A intron_variant MALY-DE 4 154118176 154118176 single base substitution T C intron_variant MALY-DE 4 154119126 154119126 single base substitution C T intron_variant MALY-DE 4 154120558 154120558 single base substitution A T intron_variant MALY-DE 4 154124761 154124761 single base substitution A C intron_variant MALY-DE 4 154124761 154124761 single base substitution A C upstream_gene_variant MALY-DE 4 154126223 154126223 insertion of <=200bp - AGG intron_variant MALY-DE 4 154136640 154136640 single base substitution C A intron_variant MALY-DE 4 154142302 154142302 single base substitution C A intron_variant MALY-DE 4 154158257 154158257 single base substitution T A intron_variant MALY-DE 4 154160571 154160572 deletion of <=200bp CT - intron_variant MALY-DE 4 154164970 154164970 single base substitution T C intron_variant MALY-DE 4 154166923 154166923 single base substitution G A intron_variant MALY-DE 4 154182853 154182853 insertion of <=200bp - T intron_variant MALY-DE 4 154187960 154187960 single base substitution T G intron_variant MALY-DE 4 154188641 154188641 insertion of <=200bp - AA intron_variant MALY-DE 4 154190310 154190310 insertion of <=200bp - T intron_variant MALY-DE 4 154191332 154191332 single base substitution G A intron_variant MALY-DE 4 154206913 154206914 deletion of <=200bp GT - intron_variant MALY-DE 4 154209803 154209803 single base substitution C T intron_variant MALY-DE 4 154216379 154216379 single base substitution G T downstream_gene_variant MALY-DE 4 154216379 154216379 single base substitution G T intron_variant MALY-DE 4 154218254 154218254 deletion of <=200bp T - downstream_gene_variant MALY-DE 4 154218254 154218254 deletion of <=200bp T - intron_variant MALY-DE 4 154221702 154221702 deletion of <=200bp T - downstream_gene_variant MALY-DE 4 154221702 154221702 deletion of <=200bp T - intron_variant MALY-DE 4 154233948 154233948 single base substitution T C downstream_gene_variant MALY-DE 4 154233948 154233948 single base substitution T C intron_variant MALY-DE 4 154240889 154240889 single base substitution A T intron_variant MALY-DE 4 154240889 154240889 single base substitution A T upstream_gene_variant MALY-DE 4 154247261 154247261 single base substitution A T downstream_gene_variant MALY-DE 4 154247261 154247261 single base substitution A T intron_variant MALY-DE 4 154249218 154249218 single base substitution G T downstream_gene_variant MALY-DE 4 154249218 154249218 single base substitution G T intron_variant MALY-DE 4 154258545 154258545 insertion of <=200bp - T 3_prime_UTR_variant MALY-DE 4 154258545 154258545 insertion of <=200bp - T downstream_gene_variant MALY-DE 4 154262176 154262176 deletion of <=200bp C - downstream_gene_variant MELA-AU 4 154069324 154069325 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 4 154069704 154069704 single base substitution C T upstream_gene_variant MELA-AU 4 154069874 154069874 single base substitution G A upstream_gene_variant MELA-AU 4 154070017 154070017 single base substitution C T upstream_gene_variant MELA-AU 4 154070555 154070555 single base substitution C T upstream_gene_variant MELA-AU 4 154070919 154070919 single base substitution G A upstream_gene_variant MELA-AU 4 154070959 154070959 single base substitution C T upstream_gene_variant MELA-AU 4 154071219 154071219 single base substitution C G upstream_gene_variant MELA-AU 4 154071363 154071363 single base substitution G A upstream_gene_variant MELA-AU 4 154071476 154071476 single base substitution G A upstream_gene_variant MELA-AU 4 154071720 154071720 single base substitution C T upstream_gene_variant MELA-AU 4 154072217 154072217 single base substitution C T upstream_gene_variant MELA-AU 4 154072289 154072289 single base substitution G A upstream_gene_variant MELA-AU 4 154072309 154072309 single base substitution G A upstream_gene_variant MELA-AU 4 154073366 154073367 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 4 154073385 154073385 single base substitution G A upstream_gene_variant MELA-AU 4 154073587 154073587 single base substitution C T exon_variant MELA-AU 4 154073587 154073587 single base substitution C T upstream_gene_variant MELA-AU 4 154074874 154074874 single base substitution C A intron_variant MELA-AU 4 154075105 154075105 single base substitution C T intron_variant MELA-AU 4 154076337 154076337 single base substitution C T intron_variant MELA-AU 4 154076674 154076674 single base substitution C T intron_variant MELA-AU 4 154076890 154076890 single base substitution C T intron_variant MELA-AU 4 154076918 154076918 single base substitution C T intron_variant MELA-AU 4 154077482 154077482 single base substitution C T intron_variant MELA-AU 4 154077654 154077654 single base substitution C T intron_variant MELA-AU 4 154078048 154078048 single base substitution T A intron_variant MELA-AU 4 154078265 154078265 single base substitution C T exon_variant MELA-AU 4 154078265 154078265 single base substitution C T intron_variant MELA-AU 4 154079729 154079729 single base substitution C T downstream_gene_variant MELA-AU 4 154079729 154079729 single base substitution C T intron_variant MELA-AU 4 154080646 154080646 single base substitution C T downstream_gene_variant MELA-AU 4 154080646 154080646 single base substitution C T intron_variant MELA-AU 4 154081321 154081321 single base substitution C T downstream_gene_variant MELA-AU 4 154081321 154081321 single base substitution C T intron_variant MELA-AU 4 154081477 154081477 single base substitution C T downstream_gene_variant MELA-AU 4 154081477 154081477 single base substitution C T intron_variant MELA-AU 4 154081659 154081659 single base substitution C T downstream_gene_variant MELA-AU 4 154081659 154081659 single base substitution C T intron_variant MELA-AU 4 154082348 154082348 single base substitution G T downstream_gene_variant MELA-AU 4 154082348 154082348 single base substitution G T intron_variant MELA-AU 4 154084460 154084460 single base substitution C T intron_variant MELA-AU 4 154084530 154084530 single base substitution C T intron_variant MELA-AU 4 154085212 154085212 single base substitution C T intron_variant MELA-AU 4 154085528 154085528 single base substitution C T intron_variant MELA-AU 4 154086078 154086078 single base substitution T C intron_variant MELA-AU 4 154087114 154087114 single base substitution C T intron_variant MELA-AU 4 154087329 154087329 single base substitution A T intron_variant MELA-AU 4 154088272 154088272 single base substitution C T intron_variant MELA-AU 4 154092310 154092310 single base substitution C T intron_variant MELA-AU 4 154092874 154092874 single base substitution A C intron_variant MELA-AU 4 154093921 154093921 single base substitution C T intron_variant MELA-AU 4 154094708 154094708 single base substitution G A intron_variant MELA-AU 4 154095746 154095746 single base substitution C T intron_variant MELA-AU 4 154096496 154096496 single base substitution C G intron_variant MELA-AU 4 154096549 154096549 single base substitution C T intron_variant MELA-AU 4 154096889 154096889 single base substitution G A intron_variant MELA-AU 4 154097150 154097150 single base substitution C T intron_variant MELA-AU 4 154097745 154097745 single base substitution C T intron_variant MELA-AU 4 154097886 154097886 single base substitution C T intron_variant MELA-AU 4 154098560 154098560 single base substitution C A intron_variant MELA-AU 4 154098961 154098962 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 154099193 154099193 single base substitution A G intron_variant MELA-AU 4 154099550 154099550 single base substitution C T intron_variant MELA-AU 4 154099617 154099617 single base substitution C T intron_variant MELA-AU 4 154100478 154100478 single base substitution T C intron_variant MELA-AU 4 154100527 154100527 single base substitution T A intron_variant MELA-AU 4 154100927 154100927 single base substitution T A intron_variant MELA-AU 4 154102062 154102062 single base substitution C T intron_variant MELA-AU 4 154103929 154103929 single base substitution C T intron_variant MELA-AU 4 154104051 154104051 single base substitution C T intron_variant MELA-AU 4 154104159 154104159 single base substitution G A intron_variant MELA-AU 4 154104657 154104657 single base substitution G A intron_variant MELA-AU 4 154105172 154105172 single base substitution G A intron_variant MELA-AU 4 154106118 154106118 single base substitution C T intron_variant MELA-AU 4 154106182 154106182 single base substitution C T intron_variant MELA-AU 4 154107130 154107130 single base substitution T C intron_variant MELA-AU 4 154107265 154107265 single base substitution C T intron_variant MELA-AU 4 154107405 154107405 single base substitution C T intron_variant MELA-AU 4 154107827 154107827 single base substitution C T intron_variant MELA-AU 4 154108006 154108006 single base substitution A G intron_variant MELA-AU 4 154108204 154108204 single base substitution C T intron_variant MELA-AU 4 154108424 154108424 single base substitution C T intron_variant MELA-AU 4 154109108 154109108 single base substitution C T intron_variant MELA-AU 4 154109255 154109255 single base substitution C T intron_variant MELA-AU 4 154110311 154110311 single base substitution C T intron_variant MELA-AU 4 154110321 154110321 single base substitution T C intron_variant MELA-AU 4 154110491 154110491 single base substitution T G intron_variant MELA-AU 4 154111658 154111658 single base substitution G T intron_variant MELA-AU 4 154112829 154112829 single base substitution C T intron_variant MELA-AU 4 154113568 154113568 single base substitution G C intron_variant MELA-AU 4 154113830 154113830 single base substitution G A intron_variant MELA-AU 4 154113980 154113980 single base substitution G A intron_variant MELA-AU 4 154114644 154114644 single base substitution G A intron_variant MELA-AU 4 154115807 154115807 single base substitution C T intron_variant MELA-AU 4 154115912 154115912 single base substitution C A intron_variant MELA-AU 4 154116319 154116319 single base substitution G A intron_variant MELA-AU 4 154116575 154116576 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 154116774 154116774 single base substitution A G intron_variant MELA-AU 4 154116905 154116905 single base substitution G T intron_variant MELA-AU 4 154117326 154117326 single base substitution C T intron_variant MELA-AU 4 154117404 154117404 single base substitution C T intron_variant MELA-AU 4 154117592 154117592 single base substitution A T intron_variant MELA-AU 4 154118150 154118150 single base substitution C T intron_variant MELA-AU 4 154118691 154118691 single base substitution T G intron_variant MELA-AU 4 154118772 154118772 single base substitution C T intron_variant MELA-AU 4 154118907 154118907 single base substitution C T intron_variant MELA-AU 4 154118908 154118908 single base substitution C T intron_variant MELA-AU 4 154119669 154119669 single base substitution C T intron_variant MELA-AU 4 154121856 154121856 single base substitution C T intron_variant MELA-AU 4 154121856 154121856 single base substitution C T upstream_gene_variant MELA-AU 4 154122009 154122009 single base substitution C T intron_variant MELA-AU 4 154122009 154122009 single base substitution C T upstream_gene_variant MELA-AU 4 154122335 154122335 single base substitution C T intron_variant MELA-AU 4 154122335 154122335 single base substitution C T upstream_gene_variant MELA-AU 4 154122440 154122441 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 154122440 154122441 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 4 154122912 154122912 single base substitution C T intron_variant MELA-AU 4 154122912 154122912 single base substitution C T upstream_gene_variant MELA-AU 4 154123961 154123961 single base substitution T C intron_variant MELA-AU 4 154123961 154123961 single base substitution T C upstream_gene_variant MELA-AU 4 154125067 154125067 single base substitution A G intron_variant MELA-AU 4 154125067 154125067 single base substitution A G upstream_gene_variant MELA-AU 4 154125371 154125371 single base substitution G A intron_variant MELA-AU 4 154125371 154125371 single base substitution G A upstream_gene_variant MELA-AU 4 154126096 154126096 single base substitution G A intron_variant MELA-AU 4 154127550 154127550 single base substitution G A intron_variant MELA-AU 4 154128099 154128099 single base substitution C T intron_variant MELA-AU 4 154128398 154128398 single base substitution C T intron_variant MELA-AU 4 154129302 154129302 single base substitution T G intron_variant MELA-AU 4 154130532 154130532 single base substitution T C intron_variant MELA-AU 4 154130608 154130608 single base substitution C T intron_variant MELA-AU 4 154131022 154131022 single base substitution G A intron_variant MELA-AU 4 154133216 154133216 single base substitution C T intron_variant MELA-AU 4 154133790 154133790 single base substitution G T intron_variant MELA-AU 4 154133996 154133996 single base substitution C G intron_variant MELA-AU 4 154134935 154134935 single base substitution C T intron_variant MELA-AU 4 154135446 154135446 single base substitution C T intron_variant MELA-AU 4 154135662 154135662 single base substitution G A intron_variant MELA-AU 4 154136188 154136188 single base substitution C T intron_variant MELA-AU 4 154136211 154136211 single base substitution C T intron_variant MELA-AU 4 154136311 154136311 single base substitution C T intron_variant MELA-AU 4 154136877 154136877 single base substitution C T intron_variant MELA-AU 4 154137031 154137031 single base substitution C T intron_variant MELA-AU 4 154137358 154137358 single base substitution C T intron_variant MELA-AU 4 154137729 154137729 single base substitution C T intron_variant MELA-AU 4 154137920 154137920 single base substitution T C intron_variant MELA-AU 4 154139693 154139693 single base substitution A C intron_variant MELA-AU 4 154139864 154139864 single base substitution C T intron_variant MELA-AU 4 154139941 154139941 single base substitution G A intron_variant MELA-AU 4 154142548 154142549 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 154142617 154142617 single base substitution C T intron_variant MELA-AU 4 154143067 154143067 single base substitution G A intron_variant MELA-AU 4 154145157 154145157 single base substitution C T downstream_gene_variant MELA-AU 4 154145157 154145157 single base substitution C T intron_variant MELA-AU 4 154145850 154145850 single base substitution T C downstream_gene_variant MELA-AU 4 154145850 154145850 single base substitution T C intron_variant MELA-AU 4 154145851 154145851 single base substitution C T downstream_gene_variant MELA-AU 4 154145851 154145851 single base substitution C T intron_variant MELA-AU 4 154146095 154146095 single base substitution C T downstream_gene_variant MELA-AU 4 154146095 154146095 single base substitution C T intron_variant MELA-AU 4 154147394 154147394 single base substitution C T downstream_gene_variant MELA-AU 4 154147394 154147394 single base substitution C T intron_variant MELA-AU 4 154148335 154148335 single base substitution C T downstream_gene_variant MELA-AU 4 154148335 154148335 single base substitution C T intron_variant MELA-AU 4 154148880 154148880 single base substitution C T intron_variant MELA-AU 4 154150699 154150699 single base substitution C T intron_variant MELA-AU 4 154150819 154150819 single base substitution A C intron_variant MELA-AU 4 154151033 154151033 single base substitution C T intron_variant MELA-AU 4 154151223 154151223 single base substitution C T intron_variant MELA-AU 4 154152134 154152134 single base substitution C T intron_variant MELA-AU 4 154152332 154152332 single base substitution G A intron_variant MELA-AU 4 154152599 154152599 single base substitution G A intron_variant MELA-AU 4 154153102 154153102 single base substitution G T intron_variant MELA-AU 4 154153981 154153981 single base substitution T C intron_variant MELA-AU 4 154153996 154153996 single base substitution G A intron_variant MELA-AU 4 154154699 154154699 single base substitution G A intron_variant MELA-AU 4 154155727 154155727 single base substitution C T intron_variant MELA-AU 4 154156622 154156622 single base substitution G A intron_variant MELA-AU 4 154157009 154157010 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 154157101 154157101 single base substitution C T intron_variant MELA-AU 4 154157181 154157181 single base substitution C T intron_variant MELA-AU 4 154157268 154157268 single base substitution C A intron_variant MELA-AU 4 154157540 154157540 single base substitution C A intron_variant MELA-AU 4 154159003 154159003 single base substitution C T intron_variant MELA-AU 4 154159075 154159075 single base substitution C T intron_variant MELA-AU 4 154159945 154159945 single base substitution G A intron_variant MELA-AU 4 154160027 154160027 single base substitution C T intron_variant MELA-AU 4 154160066 154160066 single base substitution C T intron_variant MELA-AU 4 154160300 154160300 single base substitution C T intron_variant MELA-AU 4 154161289 154161323 deletion of <=200bp ATCCTAACTTTCTGCAGCAGTAAGTAGGATCCCTA - intron_variant MELA-AU 4 154161602 154161602 single base substitution C T intron_variant MELA-AU 4 154161813 154161813 single base substitution A G intron_variant MELA-AU 4 154162463 154162463 single base substitution G A intron_variant MELA-AU 4 154162556 154162556 single base substitution C T intron_variant MELA-AU 4 154163605 154163605 single base substitution C T intron_variant MELA-AU 4 154164364 154164364 single base substitution C T intron_variant MELA-AU 4 154164559 154164559 single base substitution C T intron_variant MELA-AU 4 154164860 154164860 single base substitution C G intron_variant MELA-AU 4 154164970 154164970 single base substitution T C intron_variant MELA-AU 4 154165197 154165197 single base substitution C T intron_variant MELA-AU 4 154165368 154165368 single base substitution C T intron_variant MELA-AU 4 154165865 154165865 single base substitution C T intron_variant MELA-AU 4 154166046 154166046 single base substitution C T intron_variant MELA-AU 4 154168035 154168035 single base substitution C T intron_variant MELA-AU 4 154168336 154168336 single base substitution C T intron_variant MELA-AU 4 154168446 154168446 single base substitution C T intron_variant MELA-AU 4 154168757 154168757 single base substitution G A intron_variant MELA-AU 4 154169311 154169311 single base substitution C G intron_variant MELA-AU 4 154171022 154171022 single base substitution G A intron_variant MELA-AU 4 154171050 154171050 single base substitution C T intron_variant MELA-AU 4 154173075 154173075 single base substitution T G intron_variant MELA-AU 4 154173115 154173115 single base substitution G A intron_variant MELA-AU 4 154173594 154173594 single base substitution C T intron_variant MELA-AU 4 154173594 154173594 single base substitution C T upstream_gene_variant MELA-AU 4 154173781 154173781 single base substitution C T intron_variant MELA-AU 4 154173781 154173781 single base substitution C T upstream_gene_variant MELA-AU 4 154173930 154173930 single base substitution G A intron_variant MELA-AU 4 154173930 154173930 single base substitution G A upstream_gene_variant MELA-AU 4 154174415 154174415 single base substitution T C intron_variant MELA-AU 4 154174415 154174415 single base substitution T C upstream_gene_variant MELA-AU 4 154175067 154175067 single base substitution C T intron_variant MELA-AU 4 154175067 154175067 single base substitution C T upstream_gene_variant MELA-AU 4 154176500 154176500 single base substitution C T intron_variant MELA-AU 4 154176500 154176500 single base substitution C T upstream_gene_variant MELA-AU 4 154177703 154177703 single base substitution T C intron_variant MELA-AU 4 154177703 154177703 single base substitution T C upstream_gene_variant MELA-AU 4 154178291 154178291 single base substitution C T intron_variant MELA-AU 4 154178291 154178291 single base substitution C T upstream_gene_variant MELA-AU 4 154178325 154178325 single base substitution C T intron_variant MELA-AU 4 154178325 154178325 single base substitution C T upstream_gene_variant MELA-AU 4 154178439 154178439 single base substitution C T intron_variant MELA-AU 4 154178439 154178439 single base substitution C T upstream_gene_variant MELA-AU 4 154178609 154178609 single base substitution C T 5_prime_UTR_variant MELA-AU 4 154178609 154178609 single base substitution C T exon_variant MELA-AU 4 154178609 154178609 single base substitution C T intron_variant MELA-AU 4 154179554 154179554 single base substitution G A intron_variant MELA-AU 4 154179895 154179895 single base substitution A T intron_variant MELA-AU 4 154179909 154179909 single base substitution C T intron_variant MELA-AU 4 154180569 154180569 single base substitution C T intron_variant MELA-AU 4 154180595 154180595 single base substitution C T intron_variant MELA-AU 4 154180656 154180656 single base substitution T A intron_variant MELA-AU 4 154181034 154181034 single base substitution G A intron_variant MELA-AU 4 154181125 154181125 single base substitution C T intron_variant MELA-AU 4 154181901 154181901 single base substitution C T intron_variant MELA-AU 4 154182123 154182123 single base substitution C T intron_variant MELA-AU 4 154182662 154182662 single base substitution T A intron_variant MELA-AU 4 154183181 154183181 single base substitution C T intron_variant MELA-AU 4 154184659 154184659 single base substitution C T intron_variant MELA-AU 4 154184935 154184935 single base substitution T G intron_variant MELA-AU 4 154186705 154186705 single base substitution C T intron_variant MELA-AU 4 154186707 154186708 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 154186752 154186752 single base substitution C T intron_variant MELA-AU 4 154187806 154187806 single base substitution T A intron_variant MELA-AU 4 154188177 154188177 single base substitution C T intron_variant MELA-AU 4 154188733 154188733 single base substitution G A intron_variant MELA-AU 4 154188757 154188757 single base substitution C T intron_variant MELA-AU 4 154189426 154189426 single base substitution C T intron_variant MELA-AU 4 154189578 154189578 single base substitution C T intron_variant MELA-AU 4 154190299 154190299 single base substitution A G intron_variant MELA-AU 4 154190591 154190591 single base substitution C T intron_variant MELA-AU 4 154190695 154190695 single base substitution C T intron_variant MELA-AU 4 154190958 154190958 single base substitution T A intron_variant MELA-AU 4 154191289 154191289 single base substitution C A intron_variant MELA-AU 4 154192353 154192353 single base substitution T C downstream_gene_variant MELA-AU 4 154192353 154192353 single base substitution T C intron_variant MELA-AU 4 154192643 154192643 single base substitution C T downstream_gene_variant MELA-AU 4 154192643 154192643 single base substitution C T intron_variant MELA-AU 4 154192751 154192751 single base substitution A G downstream_gene_variant MELA-AU 4 154192751 154192751 single base substitution A G intron_variant MELA-AU 4 154193090 154193090 single base substitution C T downstream_gene_variant MELA-AU 4 154193090 154193090 single base substitution C T intron_variant MELA-AU 4 154194680 154194680 single base substitution C T downstream_gene_variant MELA-AU 4 154194680 154194680 single base substitution C T intron_variant MELA-AU 4 154195681 154195681 single base substitution G T downstream_gene_variant MELA-AU 4 154195681 154195681 single base substitution G T intron_variant MELA-AU 4 154196829 154196829 single base substitution C A intron_variant MELA-AU 4 154197258 154197258 single base substitution C T exon_variant MELA-AU 4 154197258 154197258 single base substitution C T synonymous_variant L116L 348C>T MELA-AU 4 154197258 154197258 single base substitution C T synonymous_variant L143L 429C>T MELA-AU 4 154197258 154197258 single base substitution C T synonymous_variant L30L 90C>T MELA-AU 4 154197394 154197394 single base substitution C T exon_variant MELA-AU 4 154197394 154197394 single base substitution C T intron_variant MELA-AU 4 154199307 154199307 single base substitution G A downstream_gene_variant MELA-AU 4 154199307 154199307 single base substitution G A intron_variant MELA-AU 4 154199348 154199348 single base substitution C T downstream_gene_variant MELA-AU 4 154199348 154199348 single base substitution C T intron_variant MELA-AU 4 154199521 154199521 single base substitution C T downstream_gene_variant MELA-AU 4 154199521 154199521 single base substitution C T intron_variant MELA-AU 4 154200266 154200266 single base substitution C T downstream_gene_variant MELA-AU 4 154200266 154200266 single base substitution C T intron_variant MELA-AU 4 154200392 154200393 multiple base substitution (>=2bp and <=200bp) CC TA downstream_gene_variant MELA-AU 4 154200392 154200393 multiple base substitution (>=2bp and <=200bp) CC TA intron_variant MELA-AU 4 154200440 154200440 single base substitution G A downstream_gene_variant MELA-AU 4 154200440 154200440 single base substitution G A intron_variant MELA-AU 4 154200741 154200741 single base substitution C T downstream_gene_variant MELA-AU 4 154200741 154200741 single base substitution C T intron_variant MELA-AU 4 154200765 154200765 single base substitution C T downstream_gene_variant MELA-AU 4 154200765 154200765 single base substitution C T intron_variant MELA-AU 4 154200789 154200789 single base substitution C T downstream_gene_variant MELA-AU 4 154200789 154200789 single base substitution C T intron_variant MELA-AU 4 154201960 154201960 single base substitution C T downstream_gene_variant MELA-AU 4 154201960 154201960 single base substitution C T intron_variant MELA-AU 4 154202596 154202596 single base substitution C T intron_variant MELA-AU 4 154202829 154202829 single base substitution G A intron_variant MELA-AU 4 154204159 154204159 single base substitution C T intron_variant MELA-AU 4 154204160 154204160 single base substitution C T intron_variant MELA-AU 4 154204178 154204178 single base substitution C T intron_variant MELA-AU 4 154204458 154204458 single base substitution T G intron_variant MELA-AU 4 154204490 154204490 single base substitution C T intron_variant MELA-AU 4 154204721 154204721 single base substitution C T intron_variant MELA-AU 4 154204907 154204907 single base substitution G A intron_variant MELA-AU 4 154205198 154205198 single base substitution T A intron_variant MELA-AU 4 154205524 154205524 single base substitution T A intron_variant MELA-AU 4 154205643 154205644 multiple base substitution (>=2bp and <=200bp) AC TG intron_variant MELA-AU 4 154206296 154206296 single base substitution C T intron_variant MELA-AU 4 154206352 154206352 single base substitution C T intron_variant MELA-AU 4 154206469 154206469 single base substitution A G intron_variant MELA-AU 4 154208064 154208064 single base substitution C T intron_variant MELA-AU 4 154208064 154208065 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 154208605 154208605 single base substitution T A intron_variant MELA-AU 4 154208853 154208853 single base substitution C T intron_variant MELA-AU 4 154210101 154210101 single base substitution C T intron_variant MELA-AU 4 154210272 154210272 single base substitution C T intron_variant MELA-AU 4 154210388 154210388 single base substitution T A intron_variant MELA-AU 4 154211553 154211553 single base substitution C A intron_variant MELA-AU 4 154211600 154211600 single base substitution C T intron_variant MELA-AU 4 154211703 154211703 single base substitution C T intron_variant MELA-AU 4 154212917 154212917 single base substitution C T intron_variant MELA-AU 4 154213148 154213148 single base substitution C T intron_variant MELA-AU 4 154213215 154213215 single base substitution C T intron_variant MELA-AU 4 154213260 154213260 single base substitution C T intron_variant MELA-AU 4 154213341 154213341 single base substitution G A intron_variant MELA-AU 4 154213481 154213481 single base substitution C T intron_variant MELA-AU 4 154213850 154213850 single base substitution A G intron_variant MELA-AU 4 154213971 154213971 single base substitution A C intron_variant MELA-AU 4 154214309 154214309 single base substitution C T downstream_gene_variant MELA-AU 4 154214309 154214309 single base substitution C T intron_variant MELA-AU 4 154214380 154214380 single base substitution C T downstream_gene_variant MELA-AU 4 154214380 154214380 single base substitution C T intron_variant MELA-AU 4 154214654 154214654 single base substitution G T downstream_gene_variant MELA-AU 4 154214654 154214654 single base substitution G T intron_variant MELA-AU 4 154214722 154214722 single base substitution C T downstream_gene_variant MELA-AU 4 154214722 154214722 single base substitution C T intron_variant MELA-AU 4 154215195 154215195 single base substitution T C downstream_gene_variant MELA-AU 4 154215195 154215195 single base substitution T C intron_variant MELA-AU 4 154215620 154215620 single base substitution T C downstream_gene_variant MELA-AU 4 154215620 154215620 single base substitution T C exon_variant MELA-AU 4 154215620 154215620 single base substitution T C intron_variant MELA-AU 4 154215620 154215620 single base substitution T C missense_variant Y230H 688T>C MELA-AU 4 154215620 154215620 single base substitution T C missense_variant Y257H 769T>C MELA-AU 4 154215830 154215830 single base substitution T C downstream_gene_variant MELA-AU 4 154215830 154215830 single base substitution T C intron_variant MELA-AU 4 154216094 154216095 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 4 154216094 154216095 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 154216431 154216431 single base substitution G A downstream_gene_variant MELA-AU 4 154216431 154216431 single base substitution G A intron_variant MELA-AU 4 154216875 154216875 single base substitution C T downstream_gene_variant MELA-AU 4 154216875 154216875 single base substitution C T exon_variant MELA-AU 4 154216875 154216875 single base substitution C T synonymous_variant P372P 1116C>T MELA-AU 4 154216875 154216875 single base substitution C T synonymous_variant P399P 1197C>T MELA-AU 4 154216919 154216919 single base substitution G A downstream_gene_variant MELA-AU 4 154216919 154216919 single base substitution G A exon_variant MELA-AU 4 154216919 154216919 single base substitution G A missense_variant G387D 1160G>A MELA-AU 4 154216919 154216919 single base substitution G A missense_variant G414D 1241G>A MELA-AU 4 154217158 154217158 single base substitution C T downstream_gene_variant MELA-AU 4 154217158 154217158 single base substitution C T exon_variant MELA-AU 4 154217158 154217158 single base substitution C T missense_variant P467S 1399C>T MELA-AU 4 154217158 154217158 single base substitution C T missense_variant P494S 1480C>T MELA-AU 4 154217359 154217359 single base substitution C T downstream_gene_variant MELA-AU 4 154217359 154217359 single base substitution C T intron_variant MELA-AU 4 154217645 154217645 single base substitution C T downstream_gene_variant MELA-AU 4 154217645 154217645 single base substitution C T intron_variant MELA-AU 4 154217680 154217680 single base substitution G A downstream_gene_variant MELA-AU 4 154217680 154217680 single base substitution G A intron_variant MELA-AU 4 154218798 154218798 single base substitution C T downstream_gene_variant MELA-AU 4 154218798 154218798 single base substitution C T intron_variant MELA-AU 4 154220203 154220203 single base substitution C T downstream_gene_variant MELA-AU 4 154220203 154220203 single base substitution C T intron_variant MELA-AU 4 154221371 154221371 single base substitution C T downstream_gene_variant MELA-AU 4 154221371 154221371 single base substitution C T intron_variant MELA-AU 4 154221478 154221478 deletion of <=200bp T - downstream_gene_variant MELA-AU 4 154221478 154221478 deletion of <=200bp T - intron_variant MELA-AU 4 154223355 154223355 single base substitution C T intron_variant MELA-AU 4 154223357 154223357 single base substitution C T intron_variant MELA-AU 4 154224141 154224141 single base substitution C T intron_variant MELA-AU 4 154224165 154224165 single base substitution G A intron_variant MELA-AU 4 154225243 154225243 single base substitution C T intron_variant MELA-AU 4 154225268 154225268 single base substitution C T intron_variant MELA-AU 4 154226488 154226488 single base substitution G A intron_variant MELA-AU 4 154227170 154227170 single base substitution C T intron_variant MELA-AU 4 154227929 154227929 single base substitution G A intron_variant MELA-AU 4 154228561 154228561 single base substitution C T intron_variant MELA-AU 4 154229155 154229155 single base substitution A G intron_variant MELA-AU 4 154229560 154229560 single base substitution C T intron_variant MELA-AU 4 154229589 154229589 single base substitution C T intron_variant MELA-AU 4 154229593 154229593 single base substitution C T intron_variant MELA-AU 4 154229687 154229687 single base substitution C T intron_variant MELA-AU 4 154231176 154231176 single base substitution C T exon_variant MELA-AU 4 154231176 154231176 single base substitution C T intron_variant MELA-AU 4 154232122 154232122 single base substitution G A downstream_gene_variant MELA-AU 4 154232122 154232122 single base substitution G A intron_variant MELA-AU 4 154232404 154232404 single base substitution C T downstream_gene_variant MELA-AU 4 154232404 154232404 single base substitution C T intron_variant MELA-AU 4 154232736 154232736 single base substitution C T downstream_gene_variant MELA-AU 4 154232736 154232736 single base substitution C T intron_variant MELA-AU 4 154233047 154233047 insertion of <=200bp - TTTATTTATTTA downstream_gene_variant MELA-AU 4 154233047 154233047 insertion of <=200bp - TTTATTTATTTA intron_variant MELA-AU 4 154233077 154233077 single base substitution A T downstream_gene_variant MELA-AU 4 154233077 154233077 single base substitution A T intron_variant MELA-AU 4 154233840 154233840 single base substitution C T downstream_gene_variant MELA-AU 4 154233840 154233840 single base substitution C T intron_variant MELA-AU 4 154234720 154234720 single base substitution C T downstream_gene_variant MELA-AU 4 154234720 154234720 single base substitution C T intron_variant MELA-AU 4 154235191 154235191 single base substitution C T downstream_gene_variant MELA-AU 4 154235191 154235191 single base substitution C T intron_variant MELA-AU 4 154235222 154235222 single base substitution C T downstream_gene_variant MELA-AU 4 154235222 154235222 single base substitution C T intron_variant MELA-AU 4 154235703 154235703 single base substitution C T downstream_gene_variant MELA-AU 4 154235703 154235703 single base substitution C T intron_variant MELA-AU 4 154236640 154236640 single base substitution C T missense_variant T478I 1433C>T MELA-AU 4 154236640 154236640 single base substitution C T missense_variant T505I 1514C>T MELA-AU 4 154237136 154237136 single base substitution C T synonymous_variant S562S 1686C>T MELA-AU 4 154237136 154237136 single base substitution C T synonymous_variant S589S 1767C>T MELA-AU 4 154238612 154238612 single base substitution A T intron_variant MELA-AU 4 154239234 154239234 single base substitution C T intron_variant MELA-AU 4 154239234 154239234 single base substitution C T upstream_gene_variant MELA-AU 4 154240178 154240178 single base substitution C T intron_variant MELA-AU 4 154240178 154240178 single base substitution C T upstream_gene_variant MELA-AU 4 154240590 154240590 insertion of <=200bp - T intron_variant MELA-AU 4 154240590 154240590 insertion of <=200bp - T upstream_gene_variant MELA-AU 4 154241223 154241223 single base substitution G A intron_variant MELA-AU 4 154241223 154241223 single base substitution G A upstream_gene_variant MELA-AU 4 154241677 154241677 single base substitution C T intron_variant MELA-AU 4 154241677 154241677 single base substitution C T upstream_gene_variant MELA-AU 4 154241815 154241815 single base substitution C T intron_variant MELA-AU 4 154241815 154241815 single base substitution C T upstream_gene_variant MELA-AU 4 154242063 154242063 single base substitution T C intron_variant MELA-AU 4 154242063 154242063 single base substitution T C upstream_gene_variant MELA-AU 4 154242297 154242297 single base substitution C T intron_variant MELA-AU 4 154242297 154242297 single base substitution C T upstream_gene_variant MELA-AU 4 154242312 154242312 single base substitution A T intron_variant MELA-AU 4 154242312 154242312 single base substitution A T upstream_gene_variant MELA-AU 4 154242439 154242439 single base substitution C T intron_variant MELA-AU 4 154242439 154242439 single base substitution C T upstream_gene_variant MELA-AU 4 154243101 154243101 single base substitution C T intron_variant MELA-AU 4 154243101 154243101 single base substitution C T upstream_gene_variant MELA-AU 4 154244507 154244507 single base substitution C T intron_variant MELA-AU 4 154246497 154246497 single base substitution C G downstream_gene_variant MELA-AU 4 154246497 154246497 single base substitution C G intron_variant MELA-AU 4 154246838 154246839 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 4 154246838 154246839 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 154246958 154246958 single base substitution C T downstream_gene_variant MELA-AU 4 154246958 154246958 single base substitution C T intron_variant MELA-AU 4 154246992 154246992 single base substitution A G downstream_gene_variant MELA-AU 4 154246992 154246992 single base substitution A G intron_variant MELA-AU 4 154248950 154248950 single base substitution C T downstream_gene_variant MELA-AU 4 154248950 154248950 single base substitution C T intron_variant MELA-AU 4 154249004 154249004 single base substitution A G downstream_gene_variant MELA-AU 4 154249004 154249004 single base substitution A G intron_variant MELA-AU 4 154249404 154249404 single base substitution T C downstream_gene_variant MELA-AU 4 154249404 154249404 single base substitution T C intron_variant MELA-AU 4 154250006 154250006 single base substitution C T downstream_gene_variant MELA-AU 4 154250006 154250006 single base substitution C T intron_variant MELA-AU 4 154250115 154250116 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 4 154250115 154250116 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 154250222 154250222 single base substitution C T downstream_gene_variant MELA-AU 4 154250222 154250222 single base substitution C T intron_variant MELA-AU 4 154250244 154250244 single base substitution C T downstream_gene_variant MELA-AU 4 154250244 154250244 single base substitution C T intron_variant MELA-AU 4 154251371 154251371 single base substitution G A intron_variant MELA-AU 4 154251663 154251663 single base substitution G T intron_variant MELA-AU 4 154253649 154253649 single base substitution T C intron_variant MELA-AU 4 154254390 154254390 single base substitution G A intron_variant MELA-AU 4 154255023 154255023 single base substitution C G intron_variant MELA-AU 4 154255221 154255221 single base substitution C T intron_variant MELA-AU 4 154255492 154255492 single base substitution C T intron_variant MELA-AU 4 154261003 154261003 single base substitution C T downstream_gene_variant MELA-AU 4 154261090 154261090 single base substitution C T downstream_gene_variant MELA-AU 4 154261431 154261431 single base substitution C A downstream_gene_variant MELA-AU 4 154261725 154261725 single base substitution G A downstream_gene_variant MELA-AU 4 154261793 154261793 single base substitution G C downstream_gene_variant MELA-AU 4 154263729 154263729 single base substitution A G downstream_gene_variant MELA-AU 4 154264196 154264196 single base substitution C T downstream_gene_variant MELA-AU 4 154264213 154264213 single base substitution T A downstream_gene_variant MELA-AU 4 154264213 154264213 single base substitution T C downstream_gene_variant MELA-AU 4 154264564 154264564 single base substitution C T downstream_gene_variant MELA-AU 4 154265217 154265217 single base substitution C T downstream_gene_variant MELA-AU 4 154265465 154265465 single base substitution G A downstream_gene_variant ORCA-IN 4 154076845 154076845 single base substitution C G intron_variant ORCA-IN 4 154081659 154081659 single base substitution C G downstream_gene_variant ORCA-IN 4 154081659 154081659 single base substitution C G intron_variant ORCA-IN 4 154093737 154093737 single base substitution G A intron_variant ORCA-IN 4 154127740 154127740 single base substitution C T intron_variant ORCA-IN 4 154132645 154132645 insertion of <=200bp - C intron_variant ORCA-IN 4 154135141 154135141 single base substitution G A intron_variant ORCA-IN 4 154143655 154143655 single base substitution C T exon_variant ORCA-IN 4 154143655 154143655 single base substitution C T intron_variant ORCA-IN 4 154199058 154199058 single base substitution C G downstream_gene_variant ORCA-IN 4 154199058 154199058 single base substitution C G intron_variant ORCA-IN 4 154213424 154213424 single base substitution C A intron_variant ORCA-IN 4 154248736 154248736 single base substitution T A downstream_gene_variant ORCA-IN 4 154248736 154248736 single base substitution T A intron_variant OV-AU 4 154071720 154071720 single base substitution C A upstream_gene_variant OV-AU 4 154077985 154077985 single base substitution A C intron_variant OV-AU 4 154099538 154099538 single base substitution C T intron_variant OV-AU 4 154103355 154103355 single base substitution G T intron_variant OV-AU 4 154106398 154106398 single base substitution C A intron_variant OV-AU 4 154106718 154106718 single base substitution T G intron_variant OV-AU 4 154116391 154116391 single base substitution C G intron_variant OV-AU 4 154120391 154120391 single base substitution G A intron_variant OV-AU 4 154123353 154123353 single base substitution G T intron_variant OV-AU 4 154123353 154123353 single base substitution G T upstream_gene_variant OV-AU 4 154132854 154132854 single base substitution T C intron_variant OV-AU 4 154136790 154136790 single base substitution G A intron_variant OV-AU 4 154147197 154147197 single base substitution A T downstream_gene_variant OV-AU 4 154147197 154147197 single base substitution A T intron_variant OV-AU 4 154150126 154150126 single base substitution C G intron_variant OV-AU 4 154151303 154151303 single base substitution C G intron_variant OV-AU 4 154169849 154169849 single base substitution A G intron_variant OV-AU 4 154170289 154170289 single base substitution T A intron_variant OV-AU 4 154171764 154171764 single base substitution C A intron_variant OV-AU 4 154173179 154173179 single base substitution G C intron_variant OV-AU 4 154173695 154173695 single base substitution A G intron_variant OV-AU 4 154173695 154173695 single base substitution A G upstream_gene_variant OV-AU 4 154189436 154189436 single base substitution A T intron_variant OV-AU 4 154192924 154192924 single base substitution C T downstream_gene_variant OV-AU 4 154192924 154192924 single base substitution C T intron_variant OV-AU 4 154203135 154203135 single base substitution G C intron_variant OV-AU 4 154207559 154207559 single base substitution T C intron_variant OV-AU 4 154209536 154209536 single base substitution C G intron_variant OV-AU 4 154221404 154221404 single base substitution C G downstream_gene_variant OV-AU 4 154221404 154221404 single base substitution C G intron_variant OV-AU 4 154229565 154229565 single base substitution T A intron_variant OV-AU 4 154230788 154230788 single base substitution T C intron_variant OV-AU 4 154234146 154234146 single base substitution A T downstream_gene_variant OV-AU 4 154234146 154234146 single base substitution A T intron_variant OV-AU 4 154241321 154241321 single base substitution C G intron_variant OV-AU 4 154241321 154241321 single base substitution C G upstream_gene_variant OV-AU 4 154243145 154243145 single base substitution G T intron_variant OV-AU 4 154243145 154243145 single base substitution G T upstream_gene_variant OV-AU 4 154248980 154248980 single base substitution A T downstream_gene_variant OV-AU 4 154248980 154248980 single base substitution A T intron_variant OV-AU 4 154249686 154249686 single base substitution T G downstream_gene_variant OV-AU 4 154249686 154249686 single base substitution T G missense_variant F649C 1946T>G OV-AU 4 154249686 154249686 single base substitution T G missense_variant F676C 2027T>G OV-AU 4 154253639 154253639 single base substitution A G intron_variant OV-AU 4 154261361 154261361 single base substitution A C downstream_gene_variant PACA-AU 4 154069124 154069124 single base substitution T A upstream_gene_variant PACA-AU 4 154070753 154070753 single base substitution C G upstream_gene_variant PACA-AU 4 154071966 154071966 single base substitution G A upstream_gene_variant PACA-AU 4 154079052 154079052 single base substitution C T downstream_gene_variant PACA-AU 4 154079052 154079052 single base substitution C T intron_variant PACA-AU 4 154080626 154080626 single base substitution T C downstream_gene_variant PACA-AU 4 154080626 154080626 single base substitution T C intron_variant PACA-AU 4 154082119 154082119 single base substitution C G downstream_gene_variant PACA-AU 4 154082119 154082119 single base substitution C G intron_variant PACA-AU 4 154086765 154086765 single base substitution T G intron_variant PACA-AU 4 154088666 154088666 single base substitution A G intron_variant PACA-AU 4 154090796 154090796 deletion of <=200bp A - intron_variant PACA-AU 4 154094811 154094811 single base substitution G A intron_variant PACA-AU 4 154095171 154095171 single base substitution A G intron_variant PACA-AU 4 154097040 154097040 single base substitution A G intron_variant PACA-AU 4 154098910 154098910 single base substitution C T intron_variant PACA-AU 4 154100987 154100987 single base substitution C T intron_variant PACA-AU 4 154107568 154107568 single base substitution G A intron_variant PACA-AU 4 154116550 154116550 single base substitution C T intron_variant PACA-AU 4 154119494 154119494 single base substitution T C intron_variant PACA-AU 4 154121508 154121508 single base substitution G T intron_variant PACA-AU 4 154121508 154121508 single base substitution G T upstream_gene_variant PACA-AU 4 154121882 154121882 single base substitution T A intron_variant PACA-AU 4 154121882 154121882 single base substitution T A upstream_gene_variant PACA-AU 4 154121950 154121950 single base substitution T C intron_variant PACA-AU 4 154121950 154121950 single base substitution T C upstream_gene_variant PACA-AU 4 154128149 154128149 single base substitution C T intron_variant PACA-AU 4 154135639 154135639 single base substitution C T intron_variant PACA-AU 4 154136406 154136406 single base substitution T G intron_variant PACA-AU 4 154139517 154139517 single base substitution A G intron_variant PACA-AU 4 154143210 154143210 single base substitution A G intron_variant PACA-AU 4 154147404 154147404 single base substitution A G downstream_gene_variant PACA-AU 4 154147404 154147404 single base substitution A G intron_variant PACA-AU 4 154147428 154147428 single base substitution T A downstream_gene_variant PACA-AU 4 154147428 154147428 single base substitution T A intron_variant PACA-AU 4 154149031 154149031 single base substitution C A intron_variant PACA-AU 4 154156354 154156354 insertion of <=200bp - T intron_variant PACA-AU 4 154161708 154161708 single base substitution T G intron_variant PACA-AU 4 154164842 154164842 single base substitution C G intron_variant PACA-AU 4 154169817 154169817 insertion of <=200bp - GG intron_variant PACA-AU 4 154186262 154186262 single base substitution C T intron_variant PACA-AU 4 154196160 154196160 single base substitution G T downstream_gene_variant PACA-AU 4 154196160 154196160 single base substitution G T intron_variant PACA-AU 4 154197920 154197920 single base substitution C T downstream_gene_variant PACA-AU 4 154197920 154197920 single base substitution C T intron_variant PACA-AU 4 154197981 154197981 single base substitution G A downstream_gene_variant PACA-AU 4 154197981 154197981 single base substitution G A intron_variant PACA-AU 4 154201565 154201565 single base substitution T G downstream_gene_variant PACA-AU 4 154201565 154201565 single base substitution T G intron_variant PACA-AU 4 154201955 154201955 single base substitution G A downstream_gene_variant PACA-AU 4 154201955 154201955 single base substitution G A intron_variant PACA-AU 4 154204976 154204976 single base substitution G A intron_variant PACA-AU 4 154211952 154211952 single base substitution A T intron_variant PACA-AU 4 154217967 154217967 insertion of <=200bp - TAGTTA downstream_gene_variant PACA-AU 4 154217967 154217967 insertion of <=200bp - TAGTTA intron_variant PACA-AU 4 154218163 154218163 single base substitution A T downstream_gene_variant PACA-AU 4 154218163 154218163 single base substitution A T intron_variant PACA-AU 4 154223505 154223505 single base substitution G A intron_variant PACA-AU 4 154225260 154225260 single base substitution T C intron_variant PACA-AU 4 154235059 154235059 single base substitution G C downstream_gene_variant PACA-AU 4 154235059 154235059 single base substitution G C intron_variant PACA-AU 4 154237076 154237076 single base substitution T C synonymous_variant H542H 1626T>C PACA-AU 4 154237076 154237076 single base substitution T C synonymous_variant H569H 1707T>C PACA-AU 4 154240891 154240891 single base substitution A T intron_variant PACA-AU 4 154240891 154240891 single base substitution A T upstream_gene_variant PACA-AU 4 154241441 154241441 single base substitution C G intron_variant PACA-AU 4 154241441 154241441 single base substitution C G upstream_gene_variant PACA-AU 4 154241831 154241831 single base substitution C T intron_variant PACA-AU 4 154241831 154241831 single base substitution C T upstream_gene_variant PACA-AU 4 154248294 154248300 deletion of <=200bp AAAAAAA - downstream_gene_variant PACA-AU 4 154248294 154248300 deletion of <=200bp AAAAAAA - intron_variant PACA-AU 4 154252997 154252997 single base substitution T C intron_variant PACA-AU 4 154257295 154257295 single base substitution C T 3_prime_UTR_variant PACA-AU 4 154257985 154257985 deletion of <=200bp T - 3_prime_UTR_variant PACA-AU 4 154257985 154257985 deletion of <=200bp T - downstream_gene_variant PACA-AU 4 154258424 154258424 deletion of <=200bp T - 3_prime_UTR_variant PACA-AU 4 154258424 154258424 deletion of <=200bp T - downstream_gene_variant PACA-AU 4 154260953 154260953 single base substitution A T downstream_gene_variant PACA-CA 4 154068578 154068578 single base substitution G C upstream_gene_variant PACA-CA 4 154069243 154069243 single base substitution T C upstream_gene_variant PACA-CA 4 154069517 154069517 single base substitution A G upstream_gene_variant PACA-CA 4 154069618 154069618 single base substitution C T upstream_gene_variant PACA-CA 4 154072289 154072289 single base substitution G A upstream_gene_variant PACA-CA 4 154075326 154075326 single base substitution T G intron_variant PACA-CA 4 154077906 154077906 single base substitution C A exon_variant PACA-CA 4 154077906 154077906 single base substitution C A intron_variant PACA-CA 4 154080205 154080205 single base substitution C G downstream_gene_variant PACA-CA 4 154080205 154080205 single base substitution C G intron_variant PACA-CA 4 154080289 154080289 single base substitution G C downstream_gene_variant PACA-CA 4 154080289 154080289 single base substitution G C intron_variant PACA-CA 4 154081913 154081945 deletion of <=200bp ATTTTTAAAATTTATTTTTTTCATAGAGACAAG - downstream_gene_variant PACA-CA 4 154081913 154081945 deletion of <=200bp ATTTTTAAAATTTATTTTTTTCATAGAGACAAG - intron_variant PACA-CA 4 154085021 154085021 single base substitution A G intron_variant PACA-CA 4 154085218 154085218 single base substitution G T intron_variant PACA-CA 4 154086849 154086849 single base substitution C T intron_variant PACA-CA 4 154086957 154086957 insertion of <=200bp - T intron_variant PACA-CA 4 154093553 154093553 single base substitution A G intron_variant PACA-CA 4 154095423 154095423 deletion of <=200bp C - intron_variant PACA-CA 4 154105983 154105983 single base substitution G T intron_variant PACA-CA 4 154107184 154107184 single base substitution A G intron_variant PACA-CA 4 154108484 154108484 single base substitution G C intron_variant PACA-CA 4 154108502 154108502 single base substitution C A intron_variant PACA-CA 4 154109591 154109591 deletion of <=200bp A - intron_variant PACA-CA 4 154110286 154110286 single base substitution A C intron_variant PACA-CA 4 154114361 154114361 single base substitution G A intron_variant PACA-CA 4 154117425 154117425 deletion of <=200bp A - intron_variant PACA-CA 4 154117425 154117425 single base substitution A C intron_variant PACA-CA 4 154130549 154130549 single base substitution C T intron_variant PACA-CA 4 154132254 154132254 single base substitution C T intron_variant PACA-CA 4 154141865 154141865 deletion of <=200bp T - intron_variant PACA-CA 4 154141931 154141931 single base substitution C T intron_variant PACA-CA 4 154144426 154144426 single base substitution C T downstream_gene_variant PACA-CA 4 154144426 154144426 single base substitution C T intron_variant PACA-CA 4 154144704 154144704 single base substitution T A downstream_gene_variant PACA-CA 4 154144704 154144704 single base substitution T A intron_variant PACA-CA 4 154157272 154157272 single base substitution C G intron_variant PACA-CA 4 154160243 154160243 single base substitution G A intron_variant PACA-CA 4 154161826 154161826 single base substitution A G intron_variant PACA-CA 4 154164245 154164245 single base substitution A G intron_variant PACA-CA 4 154166018 154166018 single base substitution A C intron_variant PACA-CA 4 154166931 154166931 single base substitution C T intron_variant PACA-CA 4 154173622 154173622 single base substitution C T intron_variant PACA-CA 4 154173622 154173622 single base substitution C T upstream_gene_variant PACA-CA 4 154174364 154174364 single base substitution A C intron_variant PACA-CA 4 154174364 154174364 single base substitution A C upstream_gene_variant PACA-CA 4 154176518 154176518 single base substitution C G intron_variant PACA-CA 4 154176518 154176518 single base substitution C G upstream_gene_variant PACA-CA 4 154181230 154181230 single base substitution A C intron_variant PACA-CA 4 154181625 154181625 single base substitution T G intron_variant PACA-CA 4 154187149 154187149 single base substitution T C intron_variant PACA-CA 4 154187700 154187700 single base substitution G A intron_variant PACA-CA 4 154188905 154188905 single base substitution C A intron_variant PACA-CA 4 154190031 154190031 single base substitution A G intron_variant PACA-CA 4 154190139 154190139 single base substitution A G intron_variant PACA-CA 4 154190488 154190488 single base substitution T G intron_variant PACA-CA 4 154190983 154190983 single base substitution A T intron_variant PACA-CA 4 154193064 154193064 single base substitution C T downstream_gene_variant PACA-CA 4 154193064 154193064 single base substitution C T intron_variant PACA-CA 4 154196315 154196315 single base substitution T C downstream_gene_variant PACA-CA 4 154196315 154196315 single base substitution T C intron_variant PACA-CA 4 154196753 154196753 deletion of <=200bp C - intron_variant PACA-CA 4 154200816 154200816 single base substitution C T downstream_gene_variant PACA-CA 4 154200816 154200816 single base substitution C T intron_variant PACA-CA 4 154204283 154204283 single base substitution A G intron_variant PACA-CA 4 154205198 154205198 single base substitution T A intron_variant PACA-CA 4 154205354 154205354 insertion of <=200bp - T intron_variant PACA-CA 4 154211498 154211498 single base substitution G A intron_variant PACA-CA 4 154213577 154213577 single base substitution C T intron_variant PACA-CA 4 154215586 154215586 single base substitution C T downstream_gene_variant PACA-CA 4 154215586 154215586 single base substitution C T exon_variant PACA-CA 4 154215586 154215586 single base substitution C T intron_variant PACA-CA 4 154215586 154215586 single base substitution C T synonymous_variant R218R 654C>T PACA-CA 4 154215586 154215586 single base substitution C T synonymous_variant R245R 735C>T PACA-CA 4 154220893 154220893 single base substitution C T downstream_gene_variant PACA-CA 4 154220893 154220893 single base substitution C T intron_variant PACA-CA 4 154225920 154225920 single base substitution G A intron_variant PACA-CA 4 154226645 154226645 single base substitution T C intron_variant PACA-CA 4 154230805 154230805 single base substitution A T intron_variant PACA-CA 4 154230805 154230805 single base substitution A T splice_acceptor_variant PACA-CA 4 154230900 154230900 single base substitution T C exon_variant PACA-CA 4 154230900 154230900 single base substitution T C intron_variant PACA-CA 4 154233211 154233211 single base substitution A C downstream_gene_variant PACA-CA 4 154233211 154233211 single base substitution A C intron_variant PACA-CA 4 154234877 154234877 single base substitution C T downstream_gene_variant PACA-CA 4 154234877 154234877 single base substitution C T intron_variant PACA-CA 4 154237969 154237969 deletion of <=200bp A - intron_variant PACA-CA 4 154240891 154240891 single base substitution A T intron_variant PACA-CA 4 154240891 154240891 single base substitution A T upstream_gene_variant PACA-CA 4 154246173 154246173 single base substitution C T downstream_gene_variant PACA-CA 4 154246173 154246173 single base substitution C T intron_variant PACA-CA 4 154248744 154248744 single base substitution A T downstream_gene_variant PACA-CA 4 154248744 154248744 single base substitution A T intron_variant PACA-CA 4 154256487 154256487 single base substitution C T 3_prime_UTR_variant PACA-CA 4 154257287 154257287 single base substitution C T 3_prime_UTR_variant PACA-CA 4 154257696 154257696 single base substitution C G 3_prime_UTR_variant PACA-CA 4 154257696 154257696 single base substitution C G downstream_gene_variant PACA-CA 4 154263800 154263800 single base substitution C T downstream_gene_variant PAEN-AU 4 154086368 154086368 single base substitution C T intron_variant PAEN-AU 4 154108489 154108489 single base substitution G T intron_variant PAEN-AU 4 154127888 154127888 single base substitution G T intron_variant PAEN-AU 4 154133476 154133476 single base substitution G T intron_variant PAEN-AU 4 154144047 154144047 single base substitution C G downstream_gene_variant PAEN-AU 4 154144047 154144047 single base substitution C G intron_variant PAEN-AU 4 154182213 154182213 single base substitution A G intron_variant PAEN-AU 4 154198566 154198566 single base substitution C T downstream_gene_variant PAEN-AU 4 154198566 154198566 single base substitution C T intron_variant PAEN-AU 4 154201227 154201227 single base substitution A C downstream_gene_variant PAEN-AU 4 154201227 154201227 single base substitution A C intron_variant PAEN-AU 4 154223288 154223288 single base substitution C T intron_variant PAEN-IT 4 154127129 154127129 single base substitution C A intron_variant PAEN-IT 4 154128702 154128702 single base substitution C T intron_variant PAEN-IT 4 154140155 154140155 single base substitution A T intron_variant PAEN-IT 4 154181100 154181100 single base substitution C A intron_variant PAEN-IT 4 154200940 154200940 single base substitution C G downstream_gene_variant PAEN-IT 4 154200940 154200940 single base substitution C G intron_variant PAEN-IT 4 154236596 154236596 single base substitution C A intron_variant PAEN-IT 4 154240513 154240513 single base substitution C A intron_variant PAEN-IT 4 154240513 154240513 single base substitution C A upstream_gene_variant PBCA-DE 4 154070615 154070615 single base substitution G C upstream_gene_variant PBCA-DE 4 154071883 154071883 insertion of <=200bp - T upstream_gene_variant PBCA-DE 4 154074628 154074628 single base substitution G C intron_variant PBCA-DE 4 154087131 154087133 deletion of <=200bp TGT - intron_variant PBCA-DE 4 154096271 154096271 single base substitution C T intron_variant PBCA-DE 4 154117002 154117002 single base substitution C T intron_variant PBCA-DE 4 154118109 154118109 single base substitution A T intron_variant PBCA-DE 4 154120859 154120859 single base substitution G A intron_variant PBCA-DE 4 154120859 154120859 single base substitution G A upstream_gene_variant PBCA-DE 4 154131171 154131171 single base substitution T G intron_variant PBCA-DE 4 154142762 154142762 single base substitution A T intron_variant PBCA-DE 4 154143030 154143030 single base substitution A G intron_variant PBCA-DE 4 154147958 154147960 deletion of <=200bp TGT - downstream_gene_variant PBCA-DE 4 154147958 154147960 deletion of <=200bp TGT - intron_variant PBCA-DE 4 154148966 154148966 single base substitution G A intron_variant PBCA-DE 4 154154768 154154768 single base substitution A G intron_variant PBCA-DE 4 154160286 154160286 single base substitution C T intron_variant PBCA-DE 4 154160571 154160572 deletion of <=200bp CT - intron_variant PBCA-DE 4 154168101 154168101 single base substitution T A intron_variant PBCA-DE 4 154175158 154175158 single base substitution G T intron_variant PBCA-DE 4 154175158 154175158 single base substitution G T upstream_gene_variant PBCA-DE 4 154182059 154182059 single base substitution G A intron_variant PBCA-DE 4 154182995 154182995 insertion of <=200bp - T intron_variant PBCA-DE 4 154193982 154193985 deletion of <=200bp TTTG - downstream_gene_variant PBCA-DE 4 154193982 154193985 deletion of <=200bp TTTG - intron_variant PBCA-DE 4 154197253 154197253 single base substitution C T exon_variant PBCA-DE 4 154197253 154197253 single base substitution C T missense_variant P115S 343C>T PBCA-DE 4 154197253 154197253 single base substitution C T missense_variant P142S 424C>T PBCA-DE 4 154197253 154197253 single base substitution C T missense_variant P29S 85C>T PBCA-DE 4 154206913 154206914 deletion of <=200bp GT - intron_variant PBCA-DE 4 154207884 154207884 single base substitution A C intron_variant PBCA-DE 4 154219152 154219152 single base substitution G A downstream_gene_variant PBCA-DE 4 154219152 154219152 single base substitution G A intron_variant PBCA-DE 4 154220508 154220509 deletion of <=200bp TA - downstream_gene_variant PBCA-DE 4 154220508 154220509 deletion of <=200bp TA - intron_variant PBCA-DE 4 154221916 154221916 deletion of <=200bp C - intron_variant PBCA-DE 4 154241473 154241473 single base substitution T A intron_variant PBCA-DE 4 154241473 154241473 single base substitution T A upstream_gene_variant PBCA-DE 4 154241474 154241474 single base substitution A T intron_variant PBCA-DE 4 154241474 154241474 single base substitution A T upstream_gene_variant PBCA-DE 4 154246091 154246091 single base substitution C T downstream_gene_variant PBCA-DE 4 154246091 154246091 single base substitution C T intron_variant PBCA-DE 4 154257269 154257270 deletion of <=200bp TA - 3_prime_UTR_variant PBCA-DE 4 154264798 154264799 deletion of <=200bp TG - downstream_gene_variant PRAD-CA 4 154073487 154073487 single base substitution C G upstream_gene_variant PRAD-CA 4 154073583 154073583 single base substitution C T exon_variant PRAD-CA 4 154073583 154073583 single base substitution C T upstream_gene_variant PRAD-CA 4 154074573 154074573 single base substitution C T intron_variant PRAD-CA 4 154076966 154076966 single base substitution G A intron_variant PRAD-CA 4 154079200 154079200 single base substitution C T downstream_gene_variant PRAD-CA 4 154079200 154079200 single base substitution C T intron_variant PRAD-CA 4 154106321 154106321 single base substitution G A intron_variant PRAD-CA 4 154140102 154140102 single base substitution A G intron_variant PRAD-CA 4 154165592 154165592 single base substitution A C intron_variant PRAD-CA 4 154166708 154166708 single base substitution C A intron_variant PRAD-CA 4 154204520 154204520 single base substitution C T intron_variant PRAD-CA 4 154228587 154228587 single base substitution C G intron_variant PRAD-CA 4 154257511 154257511 single base substitution C A 3_prime_UTR_variant PRAD-UK 4 154074729 154074729 single base substitution G T intron_variant PRAD-UK 4 154090625 154090625 single base substitution G T intron_variant PRAD-UK 4 154093194 154093194 single base substitution G C intron_variant PRAD-UK 4 154094588 154094588 single base substitution G A intron_variant PRAD-UK 4 154099394 154099394 single base substitution G T intron_variant PRAD-UK 4 154121676 154121676 single base substitution G A intron_variant PRAD-UK 4 154121676 154121676 single base substitution G A upstream_gene_variant PRAD-UK 4 154128996 154128996 single base substitution C A intron_variant PRAD-UK 4 154142916 154142916 insertion of <=200bp - AAGGAAGGAAGGAAAGCGC intron_variant PRAD-UK 4 154184758 154184758 single base substitution C T intron_variant PRAD-UK 4 154184810 154184810 single base substitution G A intron_variant PRAD-UK 4 154184823 154184823 single base substitution C T intron_variant PRAD-UK 4 154187604 154187604 single base substitution C T intron_variant PRAD-UK 4 154189862 154189862 single base substitution G A intron_variant PRAD-UK 4 154194053 154194053 single base substitution G A downstream_gene_variant PRAD-UK 4 154194053 154194053 single base substitution G A intron_variant PRAD-UK 4 154207129 154207129 single base substitution G A intron_variant PRAD-UK 4 154208143 154208143 single base substitution T C intron_variant PRAD-UK 4 154211538 154211538 single base substitution A T intron_variant PRAD-UK 4 154213783 154213783 single base substitution C T intron_variant PRAD-UK 4 154221012 154221012 single base substitution G A downstream_gene_variant PRAD-UK 4 154221012 154221012 single base substitution G A intron_variant PRAD-UK 4 154233576 154233576 single base substitution G A downstream_gene_variant PRAD-UK 4 154233576 154233576 single base substitution G A intron_variant PRAD-UK 4 154236228 154236228 single base substitution G A downstream_gene_variant PRAD-UK 4 154236228 154236228 single base substitution G A intron_variant PRAD-UK 4 154262586 154262586 single base substitution C A downstream_gene_variant RECA-EU 4 154079348 154079348 single base substitution C G downstream_gene_variant RECA-EU 4 154079348 154079348 single base substitution C G intron_variant RECA-EU 4 154082570 154082570 single base substitution G A downstream_gene_variant RECA-EU 4 154082570 154082570 single base substitution G A intron_variant RECA-EU 4 154097320 154097320 single base substitution G A intron_variant RECA-EU 4 154113851 154113851 single base substitution T A intron_variant RECA-EU 4 154128978 154128978 single base substitution C A intron_variant RECA-EU 4 154133519 154133519 single base substitution T G intron_variant RECA-EU 4 154149892 154149892 single base substitution C T intron_variant RECA-EU 4 154151024 154151024 single base substitution A G intron_variant RECA-EU 4 154164508 154164508 single base substitution T A intron_variant RECA-EU 4 154166369 154166369 single base substitution T G intron_variant RECA-EU 4 154183257 154183257 single base substitution T A intron_variant RECA-EU 4 154193591 154193591 single base substitution C T downstream_gene_variant RECA-EU 4 154193591 154193591 single base substitution C T intron_variant RECA-EU 4 154205640 154205640 single base substitution G C intron_variant RECA-EU 4 154211095 154211095 single base substitution C T intron_variant RECA-EU 4 154212471 154212471 single base substitution C G intron_variant RECA-EU 4 154222181 154222181 single base substitution G T intron_variant RECA-EU 4 154241706 154241706 single base substitution C A intron_variant RECA-EU 4 154241706 154241706 single base substitution C A upstream_gene_variant RECA-EU 4 154242493 154242493 single base substitution A T intron_variant RECA-EU 4 154242493 154242493 single base substitution A T upstream_gene_variant RECA-EU 4 154259568 154259568 single base substitution C A 3_prime_UTR_variant RECA-EU 4 154259568 154259568 single base substitution C A downstream_gene_variant SKCA-BR 4 154073436 154073436 single base substitution T G upstream_gene_variant SKCA-BR 4 154073554 154073556 deletion of <=200bp ATG - exon_variant SKCA-BR 4 154073554 154073556 deletion of <=200bp ATG - upstream_gene_variant SKCA-BR 4 154073558 154073564 deletion of <=200bp GTGTATA - exon_variant SKCA-BR 4 154073558 154073564 deletion of <=200bp GTGTATA - upstream_gene_variant SKCA-BR 4 154076229 154076229 single base substitution T C intron_variant SKCA-BR 4 154077620 154077620 single base substitution T C intron_variant SKCA-BR 4 154078091 154078091 single base substitution A C intron_variant SKCA-BR 4 154079135 154079135 single base substitution C T downstream_gene_variant SKCA-BR 4 154079135 154079135 single base substitution C T intron_variant SKCA-BR 4 154082100 154082100 single base substitution T C downstream_gene_variant SKCA-BR 4 154082100 154082100 single base substitution T C intron_variant SKCA-BR 4 154084646 154084646 insertion of <=200bp - TA intron_variant SKCA-BR 4 154084945 154084945 single base substitution T C intron_variant SKCA-BR 4 154084948 154084948 single base substitution T C intron_variant SKCA-BR 4 154085759 154085759 single base substitution C T intron_variant SKCA-BR 4 154087262 154087262 single base substitution C A intron_variant SKCA-BR 4 154087364 154087364 single base substitution C T intron_variant SKCA-BR 4 154090525 154090525 single base substitution G A intron_variant SKCA-BR 4 154093890 154093890 single base substitution G A intron_variant SKCA-BR 4 154097765 154097765 insertion of <=200bp - TTTTTA intron_variant SKCA-BR 4 154099532 154099532 single base substitution C T intron_variant SKCA-BR 4 154100614 154100614 single base substitution C T intron_variant SKCA-BR 4 154102288 154102288 single base substitution G A intron_variant SKCA-BR 4 154108042 154108042 insertion of <=200bp - CAAGACAGAGGG intron_variant SKCA-BR 4 154109005 154109005 single base substitution C T intron_variant SKCA-BR 4 154110239 154110239 single base substitution G A intron_variant SKCA-BR 4 154112876 154112876 single base substitution T C intron_variant SKCA-BR 4 154113865 154113865 single base substitution A C intron_variant SKCA-BR 4 154115876 154115876 single base substitution T A intron_variant SKCA-BR 4 154118724 154118724 single base substitution G A intron_variant SKCA-BR 4 154119022 154119022 single base substitution T C intron_variant SKCA-BR 4 154121092 154121092 insertion of <=200bp - AT intron_variant SKCA-BR 4 154121092 154121092 insertion of <=200bp - AT upstream_gene_variant SKCA-BR 4 154122069 154122069 single base substitution C T intron_variant SKCA-BR 4 154122069 154122069 single base substitution C T upstream_gene_variant SKCA-BR 4 154124739 154124740 deletion of <=200bp CA - intron_variant SKCA-BR 4 154124739 154124740 deletion of <=200bp CA - upstream_gene_variant SKCA-BR 4 154125713 154125713 single base substitution G A intron_variant SKCA-BR 4 154125713 154125713 single base substitution G A splice_donor_variant SKCA-BR 4 154132547 154132547 single base substitution T G intron_variant SKCA-BR 4 154135149 154135150 deletion of <=200bp GA - intron_variant SKCA-BR 4 154136188 154136188 single base substitution C T intron_variant SKCA-BR 4 154136576 154136576 single base substitution T G intron_variant SKCA-BR 4 154138591 154138591 single base substitution C T intron_variant SKCA-BR 4 154143032 154143036 deletion of <=200bp GAGGA - intron_variant SKCA-BR 4 154143059 154143063 deletion of <=200bp AAGGG - intron_variant SKCA-BR 4 154150409 154150409 single base substitution C T intron_variant SKCA-BR 4 154151977 154151977 single base substitution T C intron_variant SKCA-BR 4 154153815 154153815 single base substitution A G intron_variant SKCA-BR 4 154153941 154153941 single base substitution C T intron_variant SKCA-BR 4 154156269 154156269 single base substitution C T intron_variant SKCA-BR 4 154160692 154160692 single base substitution C T intron_variant SKCA-BR 4 154164959 154164960 deletion of <=200bp CT - intron_variant SKCA-BR 4 154165296 154165296 insertion of <=200bp - GTTCTTCTTC intron_variant SKCA-BR 4 154169147 154169147 insertion of <=200bp - GT intron_variant SKCA-BR 4 154172155 154172155 single base substitution C G intron_variant SKCA-BR 4 154173807 154173807 single base substitution A C intron_variant SKCA-BR 4 154173807 154173807 single base substitution A C upstream_gene_variant SKCA-BR 4 154181232 154181232 single base substitution G A intron_variant SKCA-BR 4 154183258 154183258 single base substitution C T intron_variant SKCA-BR 4 154188220 154188220 single base substitution T G intron_variant SKCA-BR 4 154195448 154195448 single base substitution T A downstream_gene_variant SKCA-BR 4 154195448 154195448 single base substitution T A intron_variant SKCA-BR 4 154195800 154195800 single base substitution A T downstream_gene_variant SKCA-BR 4 154195800 154195800 single base substitution A T intron_variant SKCA-BR 4 154196003 154196003 single base substitution C T downstream_gene_variant SKCA-BR 4 154196003 154196003 single base substitution C T intron_variant SKCA-BR 4 154199949 154199949 insertion of <=200bp - CA downstream_gene_variant SKCA-BR 4 154199949 154199949 insertion of <=200bp - CA intron_variant SKCA-BR 4 154201243 154201243 insertion of <=200bp - CCAAA downstream_gene_variant SKCA-BR 4 154201243 154201243 insertion of <=200bp - CCAAA intron_variant SKCA-BR 4 154201244 154201244 single base substitution A C downstream_gene_variant SKCA-BR 4 154201244 154201244 single base substitution A C intron_variant SKCA-BR 4 154203092 154203092 single base substitution G C intron_variant SKCA-BR 4 154203503 154203503 single base substitution A G intron_variant SKCA-BR 4 154204818 154204818 insertion of <=200bp - GTC intron_variant SKCA-BR 4 154205013 154205026 deletion of <=200bp CTTTTTTTTTTTTT - intron_variant SKCA-BR 4 154206435 154206435 single base substitution C T intron_variant SKCA-BR 4 154206564 154206564 single base substitution T A intron_variant SKCA-BR 4 154209726 154209726 single base substitution G A intron_variant SKCA-BR 4 154213691 154213691 single base substitution C T intron_variant SKCA-BR 4 154214599 154214599 single base substitution G A downstream_gene_variant SKCA-BR 4 154214599 154214599 single base substitution G A intron_variant SKCA-BR 4 154217117 154217117 single base substitution G A downstream_gene_variant SKCA-BR 4 154217117 154217117 single base substitution G A exon_variant SKCA-BR 4 154217117 154217117 single base substitution G A missense_variant R453K 1358G>A SKCA-BR 4 154217117 154217117 single base substitution G A missense_variant R480K 1439G>A SKCA-BR 4 154217586 154217586 single base substitution C T downstream_gene_variant SKCA-BR 4 154217586 154217586 single base substitution C T intron_variant SKCA-BR 4 154217791 154217791 single base substitution T G downstream_gene_variant SKCA-BR 4 154217791 154217791 single base substitution T G intron_variant SKCA-BR 4 154217797 154217797 single base substitution T G downstream_gene_variant SKCA-BR 4 154217797 154217797 single base substitution T G intron_variant SKCA-BR 4 154217800 154217800 single base substitution A G downstream_gene_variant SKCA-BR 4 154217800 154217800 single base substitution A G intron_variant SKCA-BR 4 154218509 154218509 single base substitution C T downstream_gene_variant SKCA-BR 4 154218509 154218509 single base substitution C T intron_variant SKCA-BR 4 154220417 154220417 single base substitution A G downstream_gene_variant SKCA-BR 4 154220417 154220417 single base substitution A G intron_variant SKCA-BR 4 154221476 154221476 single base substitution C T downstream_gene_variant SKCA-BR 4 154221476 154221476 single base substitution C T intron_variant SKCA-BR 4 154221528 154221528 single base substitution A C downstream_gene_variant SKCA-BR 4 154221528 154221528 single base substitution A C intron_variant SKCA-BR 4 154229671 154229671 single base substitution C T intron_variant SKCA-BR 4 154232878 154232878 insertion of <=200bp - AT downstream_gene_variant SKCA-BR 4 154232878 154232878 insertion of <=200bp - AT intron_variant SKCA-BR 4 154233046 154233046 insertion of <=200bp - TTTTATTTA downstream_gene_variant SKCA-BR 4 154233046 154233046 insertion of <=200bp - TTTTATTTA intron_variant SKCA-BR 4 154235369 154235369 single base substitution G A downstream_gene_variant SKCA-BR 4 154235369 154235369 single base substitution G A intron_variant SKCA-BR 4 154240350 154240350 single base substitution C T intron_variant SKCA-BR 4 154240350 154240350 single base substitution C T upstream_gene_variant SKCA-BR 4 154242078 154242078 single base substitution C T intron_variant SKCA-BR 4 154242078 154242078 single base substitution C T upstream_gene_variant SKCA-BR 4 154244212 154244212 single base substitution G A intron_variant SKCA-BR 4 154249697 154249697 single base substitution G T downstream_gene_variant SKCA-BR 4 154249697 154249697 single base substitution G T stop_gained G653* 1957G>T SKCA-BR 4 154249697 154249697 single base substitution G T stop_gained G680* 2038G>T SKCA-BR 4 154249940 154249940 single base substitution T A downstream_gene_variant SKCA-BR 4 154249940 154249940 single base substitution T A intron_variant SKCA-BR 4 154256301 154256301 single base substitution C T 3_prime_UTR_variant SKCA-BR 4 154260465 154260465 single base substitution C T 3_prime_UTR_variant SKCA-BR 4 154260465 154260465 single base substitution C T downstream_gene_variant SKCM-US 4 154191521 154191521 single base substitution C T 5_prime_UTR_variant SKCM-US 4 154191521 154191521 single base substitution C T exon_variant SKCM-US 4 154191521 154191521 single base substitution C T intron_variant SKCM-US 4 154191521 154191521 single base substitution C T missense_variant P22L 65C>T SKCM-US 4 154191564 154191564 single base substitution A G exon_variant SKCM-US 4 154191564 154191564 single base substitution A G intron_variant SKCM-US 4 154191564 154191564 single base substitution A G synonymous_variant P36P 108A>G SKCM-US 4 154191564 154191564 single base substitution A G synonymous_variant P9P 27A>G SKCM-US 4 154197219 154197219 single base substitution C T exon_variant SKCM-US 4 154197219 154197219 single base substitution C T synonymous_variant I103I 309C>T SKCM-US 4 154197219 154197219 single base substitution C T synonymous_variant I130I 390C>T SKCM-US 4 154197219 154197219 single base substitution C T synonymous_variant I17I 51C>T SKCM-US 4 154216662 154216662 single base substitution C T downstream_gene_variant SKCM-US 4 154216662 154216662 single base substitution C T exon_variant SKCM-US 4 154216662 154216662 single base substitution C T synonymous_variant F301F 903C>T SKCM-US 4 154216662 154216662 single base substitution C T synonymous_variant F328F 984C>T SKCM-US 4 154216955 154216955 single base substitution G A downstream_gene_variant SKCM-US 4 154216955 154216955 single base substitution G A exon_variant SKCM-US 4 154216955 154216955 single base substitution G A missense_variant G399E 1196G>A SKCM-US 4 154216955 154216955 single base substitution G A missense_variant G426E 1277G>A SKCM-US 4 154217084 154217084 single base substitution G A downstream_gene_variant SKCM-US 4 154217084 154217084 single base substitution G A exon_variant SKCM-US 4 154217084 154217084 single base substitution G A missense_variant G442E 1325G>A SKCM-US 4 154217084 154217084 single base substitution G A missense_variant G469E 1406G>A SKCM-US 4 154256063 154256063 single base substitution T C missense_variant V727A 2180T>C SKCM-US 4 154256063 154256063 single base substitution T C missense_variant V754A 2261T>C STAD-US 4 154191569 154191569 single base substitution C A exon_variant STAD-US 4 154191569 154191569 single base substitution C A intron_variant STAD-US 4 154191569 154191569 single base substitution C A missense_variant P11H 32C>A STAD-US 4 154191569 154191569 single base substitution C A missense_variant P38H 113C>A STAD-US 4 154215584 154215584 single base substitution C T downstream_gene_variant STAD-US 4 154215584 154215584 single base substitution C T exon_variant STAD-US 4 154215584 154215584 single base substitution C T intron_variant STAD-US 4 154215584 154215584 single base substitution C T missense_variant R218C 652C>T STAD-US 4 154215584 154215584 single base substitution C T missense_variant R245C 733C>T STAD-US 4 154216607 154216607 single base substitution A G downstream_gene_variant STAD-US 4 154216607 154216607 single base substitution A G exon_variant STAD-US 4 154216607 154216607 single base substitution A G missense_variant E283G 848A>G STAD-US 4 154216607 154216607 single base substitution A G missense_variant E310G 929A>G STAD-US 4 154216639 154216639 single base substitution C T downstream_gene_variant STAD-US 4 154216639 154216639 single base substitution C T exon_variant STAD-US 4 154216639 154216639 single base substitution C T missense_variant R294W 880C>T STAD-US 4 154216639 154216639 single base substitution C T missense_variant R321W 961C>T STAD-US 4 154216755 154216755 single base substitution C T downstream_gene_variant STAD-US 4 154216755 154216755 single base substitution C T exon_variant STAD-US 4 154216755 154216755 single base substitution C T synonymous_variant G332G 996C>T STAD-US 4 154216755 154216755 single base substitution C T synonymous_variant G359G 1077C>T STAD-US 4 154216859 154216859 single base substitution C T downstream_gene_variant STAD-US 4 154216859 154216859 single base substitution C T exon_variant STAD-US 4 154216859 154216859 single base substitution C T missense_variant A367V 1100C>T STAD-US 4 154216859 154216859 single base substitution C T missense_variant A394V 1181C>T STAD-US 4 154237032 154237032 single base substitution C T missense_variant R528C 1582C>T STAD-US 4 154237032 154237032 single base substitution C T missense_variant R555C 1663C>T STAD-US 4 154243896 154243896 single base substitution T C exon_variant STAD-US 4 154243896 154243896 single base substitution T C missense_variant F600L 1798T>C STAD-US 4 154243896 154243896 single base substitution T C missense_variant F627L 1879T>C THCA-SA 4 154257285 154257285 single base substitution T C 3_prime_UTR_variant UCEC-US 4 154197067 154197067 single base substitution G C 5_prime_UTR_variant UCEC-US 4 154197067 154197067 single base substitution G C exon_variant UCEC-US 4 154197067 154197067 single base substitution G C missense_variant A53P 157G>C UCEC-US 4 154197067 154197067 single base substitution G C missense_variant A80P 238G>C UCEC-US 4 154215568 154215568 single base substitution G A downstream_gene_variant UCEC-US 4 154215568 154215568 single base substitution G A exon_variant UCEC-US 4 154215568 154215568 single base substitution G A intron_variant UCEC-US 4 154215568 154215568 single base substitution G A synonymous_variant Q212Q 636G>A UCEC-US 4 154215568 154215568 single base substitution G A synonymous_variant Q239Q 717G>A UCEC-US 4 154215584 154215584 single base substitution C T downstream_gene_variant UCEC-US 4 154215584 154215584 single base substitution C T exon_variant UCEC-US 4 154215584 154215584 single base substitution C T intron_variant UCEC-US 4 154215584 154215584 single base substitution C T missense_variant R218C 652C>T UCEC-US 4 154215584 154215584 single base substitution C T missense_variant R245C 733C>T UCEC-US 4 154216614 154216614 single base substitution C T downstream_gene_variant UCEC-US 4 154216614 154216614 single base substitution C T exon_variant UCEC-US 4 154216614 154216614 single base substitution C T synonymous_variant A285A 855C>T UCEC-US 4 154216614 154216614 single base substitution C T synonymous_variant A312A 936C>T UCEC-US 4 154216741 154216741 single base substitution A G downstream_gene_variant UCEC-US 4 154216741 154216741 single base substitution A G exon_variant UCEC-US 4 154216741 154216741 single base substitution A G missense_variant T328A 982A>G UCEC-US 4 154216741 154216741 single base substitution A G missense_variant T355A 1063A>G UCEC-US 4 154216885 154216885 single base substitution G A downstream_gene_variant UCEC-US 4 154216885 154216885 single base substitution G A exon_variant UCEC-US 4 154216885 154216885 single base substitution G A missense_variant V376M 1126G>A UCEC-US 4 154216885 154216885 single base substitution G A missense_variant V403M 1207G>A UCEC-US 4 154217164 154217164 single base substitution G A downstream_gene_variant UCEC-US 4 154217164 154217164 single base substitution G A exon_variant UCEC-US 4 154217164 154217164 single base substitution G A missense_variant E469K 1405G>A UCEC-US 4 154217164 154217164 single base substitution G A missense_variant E496K 1486G>A UCEC-US 4 154236704 154236704 single base substitution G T missense_variant K499N 1497G>T UCEC-US 4 154236704 154236704 single base substitution G T missense_variant K526N 1578G>T UCEC-US 4 154237081 154237081 single base substitution G A missense_variant S544N 1631G>A UCEC-US 4 154237081 154237081 single base substitution G A missense_variant S571N 1712G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-AY-6197-01 COSM1427965 c.1394T>C p.V465A Substitution - Missense 4:153295920-153295920 + T368 COSM4735964 c.1064G>A p.G355D Substitution - Missense 4:153295671-153295671 + Gp5D COSM3128234 c.190C>A p.R64S Substitution - Missense 4:153275948-153275948 + TCGA-09-1674-01 COSM1328653 c.174G>C p.K58N Substitution - Missense 4:153270478-153270478 + 2492718 COSM1485757 c.96C>A p.G32G Substitution - coding silent 4:153270400-153270400 + BD49T COSM5497769 c.436C>T p.H146Y Substitution - Missense 4:153293045-153293045 + TCGA-BR-6452-01 COSM4122810 c.996C>T p.G332G Substitution - coding silent 4:153295603-153295603 + TCGA-BR-8366-01 COSM4122805 c.929A>G p.E310G Substitution - Missense 4:153295455-153295455 + Au1 COSM5597752 c.1394T>G p.V465G Substitution - Missense 4:153295920-153295920 + ESO-1488 COSM1268515 c.835G>A p.E279K Substitution - Missense 4:153295442-153295442 + TCGA-CK-4950-01 COSM1427960 c.718C>T p.Q240* Substitution - Nonsense 4:153295325-153295325 + TCGA-BQ-5877-01 COSM3993505 c.2153G>A p.S718N Substitution - Missense 4:153328660-153328660 + AOCS-116-1-3 COSM4138075 c.2027T>G p.F676C Substitution - Missense 4:153328534-153328534 + RK059_C01 COSM3767738 c.309G>A p.A103A Substitution - coding silent 4:153275986-153275986 + 2492720 COSM1485757 c.96C>A p.G32G Substitution - coding silent 4:153270400-153270400 + sysucc-1397T COSM1495744 c.272G>A p.R91H Substitution - Missense 4:153275949-153275949 + TCGA-AG-A002-01 COSM264188 c.1007G>A p.R336Q Substitution - Missense 4:153295614-153295614 + TCGA-FU-A3HY-01 COSM4838533 c.1317C>T p.I439I Substitution - coding silent 4:153295843-153295843 + TCGA-CG-4438-01 COSM4122808 c.880C>T p.R294W Substitution - Missense 4:153295487-153295487 + TCGA-D1-A167-01 COSM1594345 c.238G>C p.A80P Substitution - Missense 4:153275915-153275915 + BD72T COSM5512079 c.1834C>T p.R612C Substitution - Missense 4:153322699-153322699 + 19 COSM5746366 c.691A>G p.I231V Substitution - Missense 4:153294390-153294390 + TCGA-BS-A0UF-01 COSM1594340 c.1486G>A p.E496K Substitution - Missense 4:153296012-153296012 + BD124T COSM1495745 c.191G>A p.R64H Substitution - Missense 4:153275949-153275949 + T3 COSM4002967 c.1032G>A p.T344T Substitution - coding silent 4:153295558-153295558 + PCSI_0240_Pa_P_526 COSM4808598 c.735C>T p.R245R Substitution - coding silent 4:153294434-153294434 + Sample_1 COSM4002967 c.1032G>A p.T344T Substitution - coding silent 4:153295558-153295558 + TCGA-EE-A2MJ-06 COSM3600990 c.309C>T p.I103I Substitution - coding silent 4:153276067-153276067 + 2951_CLM COSM5512079 c.1834C>T p.R612C Substitution - Missense 4:153322699-153322699 + TCGA-D3-A2JH-06 COSM3600993 c.1406G>A p.G469E Substitution - Missense 4:153295932-153295932 + YUFERY COSM5400645 c.1482C>T p.P494P Substitution - coding silent 4:153296008-153296008 + 19 COSM5746369 c.878C>A p.P293Q Substitution - Missense 4:153295485-153295485 + TCGA-AR-A24M-01 COSM1485756 c.54A>G p.T18T Substitution - coding silent 4:153270358-153270358 + PTC-10C COSM1131224 c.951G>A p.T317T Substitution - coding silent 4:153295558-153295558 + TCGA-AZ-4315-01 COSM1427958 c.358A>C p.N120H Substitution - Missense 4:153276116-153276116 + TCGA-AU-6004-01 COSM1427962 c.776C>T p.A259V Substitution - Missense 4:153295383-153295383 + TCGA-AZ-4315-01 COSM1427957 c.439A>C p.N147H Substitution - Missense 4:153276116-153276116 + TCGA-LL-A440-01 COSM1485757 c.96C>A p.G32G Substitution - coding silent 4:153270400-153270400 + TCGA-D8-A1J8-01 COSM3825390 c.134+3A>G p.? Unknown 4:153270522-153270522 + 2492722 COSM1485758 c.15C>A p.G5G Substitution - coding silent 4:153270400-153270400 + TCGA-AA-A010-01 COSM285935 c.1687G>A p.D563N Substitution - Missense 4:153315985-153315985 + 587342 COSM1230298 c.1940G>T p.R647M Substitution - Missense 4:153322805-153322805 + TCGA-GC-A3RC-01 COSM3775615 c.1152C>T p.N384N Substitution - coding silent 4:153295759-153295759 + 2492716 COSM1485758 c.15C>A p.G5G Substitution - coding silent 4:153270400-153270400 + 587376 COSM1230301 c.1388G>A p.R463Q Substitution - Missense 4:153295995-153295995 + TCGA-FU-A3HY-01 COSM4838534 c.1236C>T p.I412I Substitution - coding silent 4:153295843-153295843 + TCGA-BT-A42B-01 COSM4390043 c.1322C>T p.P441L Substitution - Missense 4:153295929-153295929 + 61 COSM3128277 c.1684C>T p.R562W Substitution - Missense 4:153315901-153315901 + 2492719 COSM1485758 c.15C>A p.G5G Substitution - coding silent 4:153270400-153270400 + S02342 COSM5692885 c.1644C>G p.I548M Substitution - Missense 4:153315942-153315942 + CSCC-7-T COSM4451242 c.1042A>T p.I348F Substitution - Missense 4:153295649-153295649 + sysucc-707T COSM1594340 c.1486G>A p.E496K Substitution - Missense 4:153296012-153296012 + TCGA-AK-3434-01 COSM3365528 c.354C>T p.C118C Substitution - coding silent 4:153276112-153276112 + YUFERY COSM5400646 c.1401C>T p.P467P Substitution - coding silent 4:153296008-153296008 + TCGA-BR-6452-01 COSM4122804 c.32C>A p.P11H Substitution - Missense 4:153270417-153270417 + T3436 COSM3128247 c.1143C>T p.D381D Substitution - coding silent 4:153295669-153295669 + CRC-01T COSM1485758 c.15C>A p.G5G Substitution - coding silent 4:153270400-153270400 + CRC-06T COSM5457104 c.1699G>A p.A567T Substitution - Missense 4:153315916-153315916 + T36 COSM4735958 c.492G>A p.S164S Substitution - coding silent 4:153293101-153293101 + HCC4 COSM1618492 c.177C>A p.S59S Substitution - coding silent 4:153275935-153275935 + TCGA-D5-6930-01 COSM1427963 c.1318C>T p.R440* Substitution - Nonsense 4:153295844-153295844 + GC_353T-GC_353N COSM4773405 c.702C>G p.T234T Substitution - coding silent 4:153294401-153294401 + Pat_05_A COSM5865897 c.1418T>G p.I473S Substitution - Missense 4:153296025-153296025 + TCGA-AK-3434-01 COSM3365527 c.435C>T p.C145C Substitution - coding silent 4:153276112-153276112 + 8067507 COSM4389267 c.1707T>C p.H569H Substitution - coding silent 4:153315924-153315924 + HX13T COSM1618491 c.258C>A p.S86S Substitution - coding silent 4:153275935-153275935 + 587220 COSM1230296 c.470G>A p.C157Y Substitution - Missense 4:153292998-153292998 + P124 COSM1736793 c.81G>C p.R27S Substitution - Missense 4:153270385-153270385 + TCGA-D5-6930-01 COSM1427964 c.1237C>T p.R413* Substitution - Nonsense 4:153295844-153295844 + TCGA-EE-A3J5-06 COSM3600986 c.65C>T p.P22L Substitution - Missense 4:153270369-153270369 + KPOPBR-48-T COSM5964175 c.49G>C p.D17H Substitution - Missense 4:153270434-153270434 + TCGA-CK-4950-01 COSM1427959 c.799C>T p.Q267* Substitution - Nonsense 4:153295325-153295325 + Gp2D COSM3128234 c.190C>A p.R64S Substitution - Missense 4:153275948-153275948 + 2492721 COSM1485757 c.96C>A p.G32G Substitution - coding silent 4:153270400-153270400 + 2951_CLM COSM5512080 c.1753C>T p.R585C Substitution - Missense 4:153322699-153322699 + TCGA-18-3409-01 COSM1149861 c.1669C>T p.P557S Substitution - Missense 4:153315886-153315886 + PT35 COSM5912153 c.1766C>T p.S589F Substitution - Missense 4:153315983-153315983 + TCGA-GD-A3OP-01 COSM1309819 c.1691C>T p.T564I Substitution - Missense 4:153315908-153315908 + PCSI_0240_Pa_P_526 COSM4808599 c.654C>T p.R218R Substitution - coding silent 4:153294434-153294434 + Sample_1 COSM1131224 c.951G>A p.T317T Substitution - coding silent 4:153295558-153295558 + TCGA-09-1674-01 COSM1328654 c.93G>C p.K31N Substitution - Missense 4:153270478-153270478 + CSCC-10-T COSM4546893 c.328G>T p.V110L Substitution - Missense 4:153276086-153276086 + sysucc-882T COSM5447598 c.530C>T p.P177L Substitution - Missense 4:153293058-153293058 + PD6759a COSM1637944 c.1169A>T p.E390V Substitution - Missense 4:153295776-153295776 + T3436 COSM3128248 c.1062C>T p.D354D Substitution - coding silent 4:153295669-153295669 + T3498 COSM4735968 c.1843C>T p.R615* Substitution - Nonsense 4:153322789-153322789 + 2492715 COSM1485757 c.96C>A p.G32G Substitution - coding silent 4:153270400-153270400 + SNUH_G45_S1 COSM4002965 c.405T>G p.T135T Substitution - coding silent 4:153276082-153276082 + 2492705 COSM1485757 c.96C>A p.G32G Substitution - coding silent 4:153270400-153270400 + T3090 COSM4735960 c.775G>A p.A259T Substitution - Missense 4:153295382-153295382 + TCGA-BR-8372-01 COSM4122811 c.1181C>T p.A394V Substitution - Missense 4:153295707-153295707 + sysucc-1317T COSM1427972 c.1788G>A p.A596A Substitution - coding silent 4:153322734-153322734 + BD72T COSM5512080 c.1753C>T p.R585C Substitution - Missense 4:153322699-153322699 + pfg119T COSM4748021 c.1216_1221delAGACTC p.R406_L407delRL Deletion - In frame 4:153295823-153295828 + S02360 COSM5696201 c.524A>G p.E175G Substitution - Missense 4:153293052-153293052 + 2492720 COSM1485758 c.15C>A p.G5G Substitution - coding silent 4:153270400-153270400 + PD8977a COSM4735950 c.38G>A p.R13H Substitution - Missense 4:153270342-153270342 + 2492719 COSM1485757 c.96C>A p.G32G Substitution - coding silent 4:153270400-153270400 + T3225 COSM4735956 c.435G>C p.E145D Substitution - Missense 4:153293044-153293044 + TCGA-F4-6703-01 COSM1427970 c.1470delG p.V492fs*1 Deletion - Frameshift 4:153315525-153315525 + MO_1012 COSM5568338 c.1326C>A p.S442R Substitution - Missense 4:153295852-153295852 + T2940 COSM4735952 c.86G>A p.R29Q Substitution - Missense 4:153270471-153270471 + STC252 COSM5060174 c.1026C>T p.L342L Substitution - coding silent 4:153295552-153295552 + T3498 COSM4735967 c.1924C>T p.R642* Substitution - Nonsense 4:153322789-153322789 + TCGA-37-5819-01 COSM732357 c.1261G>A p.V421M Substitution - Missense 4:153295868-153295868 + D28 COSM5546010 c.1041C>T p.T347T Substitution - coding silent 4:153295567-153295567 + T3503 COSM4735953 c.373G>A p.A125T Substitution - Missense 4:153276050-153276050 + 424 COSM4432647 c.1197C>T p.P399P Substitution - coding silent 4:153295723-153295723 + CSCC-31-T COSM4478306 c.2148C>T p.P716P Substitution - coding silent 4:153334879-153334879 + 61 COSM3128278 c.1603C>T p.R535W Substitution - Missense 4:153315901-153315901 + TCGA-D1-A103-01 COSM1052199 c.1497G>T p.K499N Substitution - Missense 4:153315552-153315552 + CRC-01T COSM1485757 c.96C>A p.G32G Substitution - coding silent 4:153270400-153270400 + YUWAND COSM1695094 c.1604G>A p.R535Q Substitution - Missense 4:153315902-153315902 + PD6759a COSM1637942 c.1168G>T p.E390* Substitution - Nonsense 4:153295775-153295775 + SNUH_G45_S1 COSM1131224 c.951G>A p.T317T Substitution - coding silent 4:153295558-153295558 + ESCC_161 COSM5647677 c.542C>T p.S181F Substitution - Missense 4:153294322-153294322 + 587220 COSM1230297 c.389G>A p.C130Y Substitution - Missense 4:153292998-153292998 + 2492704 COSM1485757 c.96C>A p.G32G Substitution - coding silent 4:153270400-153270400 + TCGA-EJ-5531-01 COSM1131224 c.951G>A p.T317T Substitution - coding silent 4:153295558-153295558 + sysucc-707T COSM1052198 c.1405G>A p.E469K Substitution - Missense 4:153296012-153296012 + TCGA-AP-A059-01 COSM1052193 c.636G>A p.Q212Q Substitution - coding silent 4:153294416-153294416 + TCGA-EE-A29E-06 COSM3600992 c.903C>T p.F301F Substitution - coding silent 4:153295510-153295510 + 1517_CLM COSM5756442 c.1423C>T p.R475* Substitution - Nonsense 4:153296030-153296030 + CSCC-10-T COSM4546892 c.409G>T p.V137L Substitution - Missense 4:153276086-153276086 + PTC-28C COSM4158865 c.2200A>C p.N734H Substitution - Missense 4:153334850-153334850 + Au4 COSM5605176 c.1480C>T p.P494S Substitution - Missense 4:153296006-153296006 + CDGLIV0704A0200_T COSM5039641 c.1651G>A p.D551N Substitution - Missense 4:153315949-153315949 + S0033 COSM5883956 c.1088C>T p.A363V Substitution - Missense 4:153295695-153295695 + TCGA-BR-8366-01 COSM4122806 c.848A>G p.E283G Substitution - Missense 4:153295455-153295455 + TCGA-D1-A103-01 COSM1594339 c.1578G>T p.K526N Substitution - Missense 4:153315552-153315552 + LUAD_E00522 COSM353263 c.1132G>T p.D378Y Substitution - Missense 4:153295739-153295739 + CSCC-10-T COSM4521879 c.1054G>A p.D352N Substitution - Missense 4:153295661-153295661 + CRC-06T COSM5457105 c.1618G>A p.A540T Substitution - Missense 4:153315916-153315916 + TCGA-BR-8372-01 COSM4122812 c.1100C>T p.A367V Substitution - Missense 4:153295707-153295707 + TCGA-ER-A193-06 COSM3600988 c.27A>G p.P9P Substitution - coding silent 4:153270412-153270412 + SNUH_G45_S1 COSM4002966 c.324T>G p.T108T Substitution - coding silent 4:153276082-153276082 + S02360 COSM5696202 c.443A>G p.E148G Substitution - Missense 4:153293052-153293052 + TCGA-AZ-6598-01 COSM1427974 c.2013T>A p.A671A Substitution - coding silent 4:153328601-153328601 + SNUH_G45_S1 COSM4002967 c.1032G>A p.T344T Substitution - coding silent 4:153295558-153295558 + CDGLIV0704A0200_T COSM5039640 c.1732G>A p.D578N Substitution - Missense 4:153315949-153315949 + TCGA-D3-A2JH-06 COSM3600994 c.1325G>A p.G442E Substitution - Missense 4:153295932-153295932 + GC_353T-GC_353N COSM4773406 c.621C>G p.T207T Substitution - coding silent 4:153294401-153294401 + TCGA-BP-5008-01 COSM1495744 c.272G>A p.R91H Substitution - Missense 4:153275949-153275949 + CRC-22T COSM1485757 c.96C>A p.G32G Substitution - coding silent 4:153270400-153270400 + 2492715 COSM1485758 c.15C>A p.G5G Substitution - coding silent 4:153270400-153270400 + CSCC-10-T COSM4521878 c.1135G>A p.D379N Substitution - Missense 4:153295661-153295661 + Pat_05_B COSM5865897 c.1418T>G p.I473S Substitution - Missense 4:153296025-153296025 + 2290930 COSM4439972 c.1589C>T p.A530V Substitution - Missense 4:153315563-153315563 + 2492704 COSM1485758 c.15C>A p.G5G Substitution - coding silent 4:153270400-153270400 + 19 COSM5746368 c.959C>A p.P320Q Substitution - Missense 4:153295485-153295485 + TCGA-AY-6197-01 COSM1427966 c.1313T>C p.V438A Substitution - Missense 4:153295920-153295920 + TCGA-D8-A1J8-01 COSM3825389 c.215+3A>G p.? Unknown 4:153270522-153270522 + 2290929 COSM4439973 c.1508C>T p.A503V Substitution - Missense 4:153315563-153315563 + 2290929 COSM4439972 c.1589C>T p.A530V Substitution - Missense 4:153315563-153315563 + HCC4T COSM1618492 c.177C>A p.S59S Substitution - coding silent 4:153275935-153275935 + T4 COSM4002967 c.1032G>A p.T344T Substitution - coding silent 4:153295558-153295558 + TCGA-BH-A0BZ-01 COSM1485759 c.1793G>T p.G598V Substitution - Missense 4:153322658-153322658 + C086 COSM5540794 c.249C>T p.I83I Substitution - coding silent 4:153276007-153276007 + MO_1012 COSM5568339 c.1245C>A p.S415R Substitution - Missense 4:153295852-153295852 + TCGA-D1-A103-01 COSM1052196 c.982A>G p.T328A Substitution - Missense 4:153295589-153295589 + T4 COSM1131224 c.951G>A p.T317T Substitution - coding silent 4:153295558-153295558 + 587220 COSM1230295 c.335C>T p.A112V Substitution - Missense 4:153276093-153276093 + TCGA-BQ-5877-01 COSM3993506 c.2072G>A p.S691N Substitution - Missense 4:153328660-153328660 + 2492706 COSM1485758 c.15C>A p.G5G Substitution - coding silent 4:153270400-153270400 + TCGA-BR-4184-01 COSM1052194 c.652C>T p.R218C Substitution - Missense 4:153294432-153294432 + 2492722 COSM1485757 c.96C>A p.G32G Substitution - coding silent 4:153270400-153270400 + KM12 COSM3128307 c.1960T>C p.F654L Substitution - Missense 4:153324086-153324086 + TCGA-ER-A42K-06 COSM4894870 c.1196G>A p.G399E Substitution - Missense 4:153295803-153295803 + QC2-32-T2 COSM4002965 c.405T>G p.T135T Substitution - coding silent 4:153276082-153276082 + RK059_C01 COSM3767739 c.228G>A p.A76A Substitution - coding silent 4:153275986-153275986 + BD124T COSM1495744 c.272G>A p.R91H Substitution - Missense 4:153275949-153275949 + pfg119T COSM4748020 c.1297_1302delAGACTC p.R433_L434delRL Deletion - In frame 4:153295823-153295828 + CSCC-56-T COSM4459200 c.1115C>T p.S372F Substitution - Missense 4:153295641-153295641 + B104-0-Tumor COSM1753592 c.1594A>T p.S532C Substitution - Missense 4:153315568-153315568 + TCGA-AZ-6598-01 COSM1427973 c.2094T>A p.A698A Substitution - coding silent 4:153328601-153328601 + TCGA-06-0140-01 COSM3409096 c.730G>A p.V244M Substitution - Missense 4:153294429-153294429 + T3202 COSM4735966 c.1583G>A p.R528H Substitution - Missense 4:153315881-153315881 + B104-0 COSM1753592 c.1594A>T p.S532C Substitution - Missense 4:153315568-153315568 + ESO-1488 COSM1268514 c.916G>A p.E306K Substitution - Missense 4:153295442-153295442 + TCGA-AP-A059-01 COSM1052197 c.1126G>A p.V376M Substitution - Missense 4:153295733-153295733 + 19 COSM5746367 c.610A>G p.I204V Substitution - Missense 4:153294390-153294390 + TCGA-F4-6703-01 COSM1427969 c.1551delG p.V519fs*1 Deletion - Frameshift 4:153315525-153315525 + TCGA-BR-4201-01 COSM4122815 c.1879T>C p.F627L Substitution - Missense 4:153322744-153322744 + TCGA-AU-6004-01 COSM1427961 c.857C>T p.A286V Substitution - Missense 4:153295383-153295383 + PD4109a COSM165124 c.265G>C p.V89L Substitution - Missense 4:153276023-153276023 + sysucc-1317T COSM1427971 c.1869G>A p.A623A Substitution - coding silent 4:153322734-153322734 + TCGA-D3-A2JO-06 COSM3600996 c.2180T>C p.V727A Substitution - Missense 4:153334911-153334911 + TCGA-DG-A2KL-01 COSM4851553 c.924G>A p.L308L Substitution - coding silent 4:153295450-153295450 + sysucc-882T COSM5447599 c.449C>T p.P150L Substitution - Missense 4:153293058-153293058 + LUAD-S01467 COSM399500 c.467A>G p.D156G Substitution - Missense 4:153293076-153293076 + T20 COSM5344644 c.1281G>A p.V427V Substitution - coding silent 4:153295888-153295888 + PTC-28C COSM4002966 c.324T>G p.T108T Substitution - coding silent 4:153276082-153276082 + KM12 COSM3128308 c.1879T>C p.F627L Substitution - Missense 4:153324086-153324086 + AOCS-116-1-3 COSM4138076 c.1946T>G p.F649C Substitution - Missense 4:153328534-153328534 + PT35 COSM5912154 c.1685C>T p.S562F Substitution - Missense 4:153315983-153315983 + 2290930 COSM4439973 c.1508C>T p.A503V Substitution - Missense 4:153315563-153315563 + SNUH_G16_S1 COSM3683240 c.951G>C p.T317T Substitution - coding silent 4:153295558-153295558 + LUAD-S01302 COSM396067 c.223G>A p.A75T Substitution - Missense 4:153275981-153275981 + TCGA-18-3409-01 COSM732356 c.1588C>T p.P530S Substitution - Missense 4:153315886-153315886 + TCGA-ER-A193-06 COSM3600987 c.108A>G p.P36P Substitution - coding silent 4:153270412-153270412 + TCGA-BS-A0UF-01 COSM1052198 c.1405G>A p.E469K Substitution - Missense 4:153296012-153296012 + TCGA-BR-6452-01 COSM4122803 c.113C>A p.P38H Substitution - Missense 4:153270417-153270417 + ESCC_43 COSM5629887 c.1581A>G p.I527M Substitution - Missense 4:153315555-153315555 + STC263 COSM3767739 c.228G>A p.A76A Substitution - coding silent 4:153275986-153275986 + CSCC-31-T COSM4478305 c.2229C>T p.P743P Substitution - coding silent 4:153334879-153334879 + TCGA-BT-A42B-01 COSM4390042 c.1403C>T p.P468L Substitution - Missense 4:153295929-153295929 + TCGA-AP-A0LG-01 COSM1052201 c.1631G>A p.S544N Substitution - Missense 4:153315929-153315929 + STC263 COSM3767738 c.309G>A p.A103A Substitution - coding silent 4:153275986-153275986 + 587220 COSM1230294 c.416C>T p.A139V Substitution - Missense 4:153276093-153276093 + PT48 COSM5931563 c.130G>A p.D44N Substitution - Missense 4:153270434-153270434 + TCGA-BR-4184-01 COSM1594343 c.733C>T p.R245C Substitution - Missense 4:153294432-153294432 + TCGA-GC-A3RC-01 COSM3775614 c.1233C>T p.N411N Substitution - coding silent 4:153295759-153295759 + BD49T COSM5497768 c.517C>T p.H173Y Substitution - Missense 4:153293045-153293045 + T3202 COSM4735965 c.1664G>A p.R555H Substitution - Missense 4:153315881-153315881 + KPOPBR-48-T COSM5964174 c.130G>C p.D44H Substitution - Missense 4:153270434-153270434 + TCGA-G2-A2ES-01 COSM1309824 c.1870+1G>A p.? Unknown 4:153322817-153322817 + TCGA-AY-6197-01 COSM1427968 c.1412A>T p.D471V Substitution - Missense 4:153296019-153296019 + TCGA-IZ-8195-01 COSM3993503 c.645A>T p.E215D Substitution - Missense 4:153294344-153294344 + TCGA-B0-4827-01 COSM480965 c.803C>A p.T268N Substitution - Missense 4:153295410-153295410 + TCGA-66-2756-01 COSM732358 c.195G>T p.Q65H Substitution - Missense 4:153275953-153275953 + YUWAND COSM1695093 c.1685G>A p.R562Q Substitution - Missense 4:153315902-153315902 + TCGA-AX-A05Z-01 COSM1052194 c.652C>T p.R218C Substitution - Missense 4:153294432-153294432 + TCGA-66-2756-01 COSM1149859 c.276G>T p.Q92H Substitution - Missense 4:153275953-153275953 + Pat_05_B COSM5865896 c.1499T>G p.I500S Substitution - Missense 4:153296025-153296025 + TCGA-F1-A448-01 COSM4122813 c.1663C>T p.R555C Substitution - Missense 4:153315880-153315880 + TCGA-EA-A4BA-01 COSM4848068 c.210C>T p.P70P Substitution - coding silent 4:153275968-153275968 + TCGA-D1-A167-01 COSM1052192 c.157G>C p.A53P Substitution - Missense 4:153275915-153275915 + TCGA-BH-A0BZ-01 COSM447509 c.1712G>T p.G571V Substitution - Missense 4:153322658-153322658 + 424 COSM4432648 c.1116C>T p.P372P Substitution - coding silent 4:153295723-153295723 + D28 COSM5546011 c.960C>T p.T320T Substitution - coding silent 4:153295567-153295567 + S02342 COSM5692884 c.1725C>G p.I575M Substitution - Missense 4:153315942-153315942 + TCGA-G2-A2ES-01 COSM1309821 c.1925G>A p.R642Q Substitution - Missense 4:153322790-153322790 + S0033 COSM5883955 c.1169C>T p.A390V Substitution - Missense 4:153295695-153295695 + T3090 COSM4735959 c.856G>A p.A286T Substitution - Missense 4:153295382-153295382 + TCGA-GD-A3OP-01 COSM1309820 c.1610C>T p.T537I Substitution - Missense 4:153315908-153315908 + T3024 COSM4735962 c.798G>A p.T266T Substitution - coding silent 4:153295405-153295405 + TCGA-AX-A05Z-01 COSM1594343 c.733C>T p.R245C Substitution - Missense 4:153294432-153294432 + HCC4 COSM1618491 c.258C>A p.S86S Substitution - coding silent 4:153275935-153275935 + TCGA-LL-A440-01 COSM1485758 c.15C>A p.G5G Substitution - coding silent 4:153270400-153270400 + 8067507 COSM4389268 c.1626T>C p.H542H Substitution - coding silent 4:153315924-153315924 + TCGA-AP-A059-01 COSM1594341 c.1207G>A p.V403M Substitution - Missense 4:153295733-153295733 + TCGA-AG-3881-01 COSM5067990 c.1870+1G>C p.? Unknown 4:153322817-153322817 + C086 COSM5540793 c.330C>T p.I110I Substitution - coding silent 4:153276007-153276007 + SNUH_G16_S1 COSM3683239 c.1032G>C p.T344T Substitution - coding silent 4:153295558-153295558 + CRC-22T COSM1485758 c.15C>A p.G5G Substitution - coding silent 4:153270400-153270400 + GC_383T-GC_383N COSM4774284 c.1101C>T p.I367I Substitution - coding silent 4:153295627-153295627 + TCGA-CG-4438-01 COSM4122807 c.961C>T p.R321W Substitution - Missense 4:153295487-153295487 + PTC-28C COSM4158866 c.2119A>C p.N707H Substitution - Missense 4:153334850-153334850 + CSCC-7-T COSM4451241 c.1123A>T p.I375F Substitution - Missense 4:153295649-153295649 + TCGA-D3-A2JO-06 COSM3600995 c.2261T>C p.V754A Substitution - Missense 4:153334911-153334911 + YURAY COSM5400643 c.987C>T p.I329I Substitution - coding silent 4:153295513-153295513 + sysucc-1397T COSM1495745 c.191G>A p.R64H Substitution - Missense 4:153275949-153275949 + TCGA-BG-A0MG-01 COSM1052195 c.855C>T p.A285A Substitution - coding silent 4:153295462-153295462 + TCGA-BR-6452-01 COSM4122809 c.1077C>T p.G359G Substitution - coding silent 4:153295603-153295603 + PD6759a COSM1637941 c.1249G>T p.E417* Substitution - Nonsense 4:153295775-153295775 + TCGA-ER-A42K-06 COSM4894869 c.1277G>A p.G426E Substitution - Missense 4:153295803-153295803 + 2492716 COSM1485757 c.96C>A p.G32G Substitution - coding silent 4:153270400-153270400 + ESCC_43 COSM5629888 c.1500A>G p.I500M Substitution - Missense 4:153315555-153315555 + HCC4T COSM1618491 c.258C>A p.S86S Substitution - coding silent 4:153275935-153275935 + TCGA-BP-5008-01 COSM1495745 c.191G>A p.R64H Substitution - Missense 4:153275949-153275949 + Pat_24_A COSM4735953 c.373G>A p.A125T Substitution - Missense 4:153276050-153276050 + TCGA-F1-A448-01 COSM4122814 c.1582C>T p.R528C Substitution - Missense 4:153315880-153315880 + 2492723 COSM1485758 c.15C>A p.G5G Substitution - coding silent 4:153270400-153270400 + T3024 COSM4735961 c.879G>A p.T293T Substitution - coding silent 4:153295405-153295405 + T36 COSM4735957 c.573G>A p.S191S Substitution - coding silent 4:153293101-153293101 + TCGA-AX-A064-01 COSM1052200 c.1579G>A p.G527R Substitution - Missense 4:153315877-153315877 + 2492723 COSM1485757 c.96C>A p.G32G Substitution - coding silent 4:153270400-153270400 + LUAD-5V8LT COSM402521 c.827A>T p.Q276L Substitution - Missense 4:153295434-153295434 + TCGA-EE-A2MJ-06 COSM3600989 c.390C>T p.I130I Substitution - coding silent 4:153276067-153276067 + TCGA-AY-6197-01 COSM1427967 c.1493A>T p.D498V Substitution - Missense 4:153296019-153296019 + TCGA-AP-A059-01 COSM1594344 c.717G>A p.Q239Q Substitution - coding silent 4:153294416-153294416 + TCGA-AY-6197-01 COSM1427955 c.242A>T p.H81L Substitution - Missense 4:153275919-153275919 + T3503 COSM4735954 c.292G>A p.A98T Substitution - Missense 4:153276050-153276050 + 2492721 COSM1485758 c.15C>A p.G5G Substitution - coding silent 4:153270400-153270400 + 66 COSM4735950 c.38G>A p.R13H Substitution - Missense 4:153270342-153270342 + PD17981a COSM5767953 c.40C>T p.R14C Substitution - Missense 4:153270425-153270425 + Gp5D COSM3128233 c.271C>A p.R91S Substitution - Missense 4:153275948-153275948 + GC_383T-GC_383N COSM4774285 c.1020C>T p.I340I Substitution - coding silent 4:153295627-153295627 + TCGA-D1-A103-01 COSM1594342 c.1063A>G p.T355A Substitution - Missense 4:153295589-153295589 + TCGA-EA-A4BA-01 COSM4848067 c.291C>T p.P97P Substitution - coding silent 4:153275968-153275968 + Pat_05_A COSM5865896 c.1499T>G p.I500S Substitution - Missense 4:153296025-153296025 + TCGA-IZ-8195-01 COSM3993504 c.564A>T p.E188D Substitution - Missense 4:153294344-153294344 + TCGA-EE-A29E-06 COSM3600991 c.984C>T p.F328F Substitution - coding silent 4:153295510-153295510 + QC2-32-T2 COSM4002966 c.324T>G p.T108T Substitution - coding silent 4:153276082-153276082 + ESCC_161 COSM5647676 c.623C>T p.S208F Substitution - Missense 4:153294322-153294322 + B104-0 COSM1753593 c.1513A>T p.S505C Substitution - Missense 4:153315568-153315568 + CSCC-56-T COSM4459201 c.1034C>T p.S345F Substitution - Missense 4:153295641-153295641 + PD17981a COSM5767952 c.121C>T p.R41C Substitution - Missense 4:153270425-153270425 + PTC-28C COSM4002965 c.405T>G p.T135T Substitution - coding silent 4:153276082-153276082 + 2492717 COSM1485757 c.96C>A p.G32G Substitution - coding silent 4:153270400-153270400 + PDA_052 COSM5000765 c.1948G>T p.A650S Substitution - Missense 4:153322813-153322813 + T2940 COSM4735951 c.167G>A p.R56Q Substitution - Missense 4:153270471-153270471 + 2492717 COSM1485758 c.15C>A p.G5G Substitution - coding silent 4:153270400-153270400 + Au1 COSM5597753 c.1313T>G p.V438G Substitution - Missense 4:153295920-153295920 + T368 COSM4735963 c.1145G>A p.G382D Substitution - Missense 4:153295671-153295671 + Au4 COSM5605177 c.1399C>T p.P467S Substitution - Missense 4:153296006-153296006 + T3225 COSM4735955 c.516G>C p.E172D Substitution - Missense 4:153293044-153293044 + 2492718 COSM1485758 c.15C>A p.G5G Substitution - coding silent 4:153270400-153270400 + TCGA-37-5819-01 COSM1149860 c.1342G>A p.V448M Substitution - Missense 4:153295868-153295868 + T20 COSM5344643 c.1362G>A p.V454V Substitution - coding silent 4:153295888-153295888 + CHOL06 COSM1744613 c.1038C>T p.V346V Substitution - coding silent 4:153295645-153295645 + TCGA-AY-6197-01 COSM1427956 c.161A>T p.H54L Substitution - Missense 4:153275919-153275919 + 2492705 COSM1485758 c.15C>A p.G5G Substitution - coding silent 4:153270400-153270400 + HX13T COSM1618492 c.177C>A p.S59S Substitution - coding silent 4:153275935-153275935 + 1517_CLM COSM5756441 c.1504C>T p.R502* Substitution - Nonsense 4:153296030-153296030 + T3 COSM1131224 c.951G>A p.T317T Substitution - coding silent 4:153295558-153295558 + TCGA-G2-A2ES-01 COSM1309822 c.1844G>A p.R615Q Substitution - Missense 4:153322790-153322790 + LIM2551 COSM3128230 c.60delC p.P22fs*27 Deletion - Frameshift 4:153270364-153270364 + 587342 COSM1230299 c.1859G>T p.R620M Substitution - Missense 4:153322805-153322805 + B104-0-Tumor COSM1753593 c.1513A>T p.S505C Substitution - Missense 4:153315568-153315568 + Gp2D COSM3128233 c.271C>A p.R91S Substitution - Missense 4:153275948-153275948 + CHOL06 COSM1744612 c.1119C>T p.V373V Substitution - coding silent 4:153295645-153295645 + TCGA-BR-4201-01 COSM4122816 c.1798T>C p.F600L Substitution - Missense 4:153322744-153322744 + PTC-10C COSM4002967 c.1032G>A p.T344T Substitution - coding silent 4:153295558-153295558 + 587376 COSM1230300 c.1469G>A p.R490Q Substitution - Missense 4:153295995-153295995 + PDA_052 COSM5000766 c.1867G>T p.A623S Substitution - Missense 4:153322813-153322813 + T3090 COSM4735950 c.38G>A p.R13H Substitution - Missense 4:153270342-153270342 + TCGA-G2-A2ES-01 COSM1309823 c.1951+1G>A p.? Unknown 4:153322817-153322817 + PD6759a COSM1637943 c.1250A>T p.E417V Substitution - Missense 4:153295776-153295776 + TCGA-06-0140-01 COSM3409097 c.649G>A p.V217M Substitution - Missense 4:153294429-153294429 + TCGA-DG-A2KL-01 COSM4851554 c.843G>A p.L281L Substitution - coding silent 4:153295450-153295450 + Pat_24_A COSM4735954 c.292G>A p.A98T Substitution - Missense 4:153276050-153276050 + PT48 COSM5931564 c.49G>A p.D17N Substitution - Missense 4:153270434-153270434 + 2492706 COSM1485757 c.96C>A p.G32G Substitution - coding silent 4:153270400-153270400 + STC252 COSM5060175 c.945C>T p.L315L Substitution - coding silent 4:153295552-153295552 + YURAY COSM5400644 c.906C>T p.I302I Substitution - coding silent 4:153295513-153295513 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.435710;Hs.435711 4q31.3 614141

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.N59T c.176A>C 4 154191632 CM A G IntronicSNV . c.1511-5466A>G 4 154231171 HC A G IntronicSNV . c.453+7367A>G 4 154204649 CLL A G Synonymous p.P36P c.108A>G 4 154191564 CM A G Synonymous p.T18T c.54A>G 4 154191510 BRCA C A IntronicSNV . c.30+18025C>A 4 154143737 HC C A Missense p.T295N c.884C>A 4 154216562 RCCC C A Synonymous p.G32G c.96C>A 4 154191552 BRCA CC TT Missense p.R91C c.270_271delinsTT 4 154197099 CM C G Missense p.F546L c.1638C>G 4 154237007 LUAD C G Missense p.S208C c.623C>G 4 154215474 LUAD C T IntronicSNV . c.1511-7477C>T 4 154229160 CM C T IntronicSNV . c.216-2301C>T 4 154194744 CLL C T IntronicSNV . c.31-12185C>T 4 154179302 CLL C T Missense p.R321W c.961C>T 4 154216639 STAD C T Missense p.T564I c.1691C>T 4 154237060 BLCA C T Synonymous p.A312A c.936C>T 4 154216614 UCEC C T Synonymous p.C145C c.435C>T 4 154197264 RCCC C T Synonymous p.F682F c.2046C>T 4 154249705 HNSC C T Synonymous p.P97P c.291C>T 4 154197120 HNSC G A IntronicSNV . c.1511-7550G>A 4 154229087 CM G A Missense p.E306K c.916G>A 4 154216594 ESCA G A Missense p.G469E c.1406G>A 4 154217084 CM G A Missense p.R642Q c.1925G>A 4 154243942 BLCA G A Missense p.S571N c.1712G>A 4 154237081 UCEC G A Missense p.V244M c.730G>A 4 154215581 GBM G A Missense p.V448M c.1342G>A 4 154217020 LUSC G A SpliceDonorSNV . c.1951+1G>A 4 154243969 BLCA G C Missense p.V116L c.346G>C 4 154197175 BRCA G T Missense p.A198S c.592G>T 4 154214272 CM G T Missense p.A482S c.1444G>T 4 154217122 LUAD G T Missense p.G598V c.1793G>T 4 154243810 BRCA G T Missense p.Q92H c.276G>T 4 154197105 LUSC G T Nonsense p.E407* c.1219G>T 4 154216897 LUAD T A Missense p.I575N c.1724T>A 4 154237093 COREAD T C Missense p.F627L c.1879T>C 4 154243896 STAD T C Missense p.V754A c.2261T>C 4 154256063 CM T C Synonymous p.N707N c.2121T>C 4 154249780 CM T G 3-UTRSNV . c.2313+4107T>G 4 154260222 HC T G 3-UTRSNV . c.2313+4112T>G 4 154260227 HC T - IntronicDeletion . c.1952-16delT 4 154245208 STAD - T IntronicInsertion . c.786+151dupT 4 154215783 ESCA