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 12 57397418 57397418 + Silent SNP G G A TCGA-PK-A5HB-01A-11D-A29I-10 TCGA-PK-A5HB-11A-11D-A29L-10 g.chr12:57397418G>A c.1284C>T c.(1282-1284)atC>atT p.I428I BLCA 12 57397508 57397508 + Silent SNP G G A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 g.chr12:57397508G>A c.1194C>T c.(1192-1194)ttC>ttT p.F398F BLCA 12 57397678 57397678 + Missense_Mutation SNP C C T TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 g.chr12:57397678C>T c.1024G>A c.(1024-1026)Gcc>Acc p.A342T BLCA 12 57398368 57398368 + Missense_Mutation SNP C C G TCGA-XF-A9T5-01A-11D-A42E-08 TCGA-XF-A9T5-10A-01D-A42H-08 g.chr12:57398368C>G c.334G>C c.(334-336)Gag>Cag p.E112Q BLCA 12 57398525 57398525 + Silent SNP G G A TCGA-XF-AAML-01A-11D-A42E-08 TCGA-XF-AAML-10A-01D-A42H-08 g.chr12:57398525G>A c.177C>T c.(175-177)ttC>ttT p.F59F BLCA 12 57398642 57398642 + Silent SNP G G C TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 g.chr12:57398642G>C c.60C>G c.(58-60)ctC>ctG p.L20L BRCA 12 57397309 57397309 + Missense_Mutation SNP G G A TCGA-A7-A0CJ-01A-21W-A019-09 TCGA-A7-A0CJ-10A-01W-A021-09 g.chr12:57397309G>A c.1393C>T c.(1393-1395)Cat>Tat p.H465Y BRCA 12 57398476 57398476 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr12:57398476T>G c.226A>C c.(226-228)Acc>Ccc p.T76P BRCA 12 57398550 57398550 + Missense_Mutation SNP G G A TCGA-A8-A07C-01A-11D-A045-09 TCGA-A8-A07C-10A-01W-A055-09 g.chr12:57398550G>A c.152C>T c.(151-153)gCa>gTa p.A51V CESC 12 57397132 57397132 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 g.chr12:57397132C>G c.1570G>C c.(1570-1572)Gag>Cag p.E524Q COAD 12 57396584 57396584 + Silent SNP C C T TCGA-G4-6626-01A-11D-1771-10 TCGA-G4-6626-10A-01D-1771-10 g.chr12:57396584C>T c.2118G>A c.(2116-2118)gcG>gcA p.A706A COAD 12 57397010 57397010 + Silent SNP A A G TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr12:57397010A>G c.1692T>C c.(1690-1692)agT>agC p.S564S COAD 12 57397795 57397795 + Missense_Mutation SNP C C T TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr12:57397795C>T c.907G>A c.(907-909)Gac>Aac p.D303N COAD 12 57398064 57398064 + Missense_Mutation SNP T T C TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr12:57398064T>C c.638A>G c.(637-639)gAc>gGc p.D213G COAD 12 57398096 57398096 + Silent SNP C C T TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr12:57398096C>T c.606G>A c.(604-606)ccG>ccA p.P202P COAD 12 57398096 57398096 + Silent SNP C C T TCGA-DM-A0XF-01A-11D-A152-10 TCGA-DM-A0XF-10A-01D-A152-10 g.chr12:57398096C>T c.606G>A c.(604-606)ccG>ccA p.P202P COAD 12 57398407 57398407 + Missense_Mutation SNP C C T TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr12:57398407C>T c.295G>A c.(295-297)Gtt>Att p.V99I COADREAD 12 57396584 57396584 + Silent SNP C C T TCGA-G4-6626-01A-11D-1771-10 TCGA-G4-6626-10A-01D-1771-10 g.chr12:57396584C>T c.2118G>A c.(2116-2118)gcG>gcA p.A706A COADREAD 12 57397010 57397010 + Silent SNP A A G TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr12:57397010A>G c.1692T>C c.(1690-1692)agT>agC p.S564S COADREAD 12 57397042 57397042 + Missense_Mutation SNP G G A TCGA-AG-3574-01A-01W-0831-10 TCGA-AG-3574-10A-01W-0831-10 g.chr12:57397042G>A c.1660C>T c.(1660-1662)Cgc>Tgc p.R554C COADREAD 12 57397795 57397795 + Missense_Mutation SNP C C T TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr12:57397795C>T c.907G>A c.(907-909)Gac>Aac p.D303N COADREAD 12 57398064 57398064 + Missense_Mutation SNP T T C TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr12:57398064T>C c.638A>G c.(637-639)gAc>gGc p.D213G COADREAD 12 57398096 57398096 + Silent SNP C C T TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr12:57398096C>T c.606G>A c.(604-606)ccG>ccA p.P202P COADREAD 12 57398096 57398096 + Silent SNP C C T TCGA-DM-A0XF-01A-11D-A152-10 TCGA-DM-A0XF-10A-01D-A152-10 g.chr12:57398096C>T c.606G>A c.(604-606)ccG>ccA p.P202P COADREAD 12 57398407 57398407 + Missense_Mutation SNP C C T TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr12:57398407C>T c.295G>A c.(295-297)Gtt>Att p.V99I DLBC 12 57397250 57397250 + Silent SNP G G C TCGA-G8-6914-01A-11D-2210-10 TCGA-G8-6914-14A-01D-2210-10 g.chr12:57397250G>C c.1452C>G c.(1450-1452)gtC>gtG p.V484V ESCA 12 57397269 57397269 + Missense_Mutation SNP T T C TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 g.chr12:57397269T>C c.1433A>G c.(1432-1434)aAg>aGg p.K478R ESCA 12 57398627 57398627 + Silent SNP G G C TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 g.chr12:57398627G>C c.75C>G c.(73-75)ctC>ctG p.L25L GBM 12 57396685 57396685 + Missense_Mutation SNP G G T TCGA-76-6664-01A-11D-1845-08 TCGA-76-6664-10A-01D-1845-08 g.chr12:57396685G>T c.2017C>A c.(2017-2019)Ctt>Att p.L673I GBM 12 57396726 57396726 + Missense_Mutation SNP A A G TCGA-28-2510-01A-01D-1696-08 TCGA-28-2510-10A-01D-1696-08 g.chr12:57396726A>G c.1976T>C c.(1975-1977)cTc>cCc p.L659P GBM 12 57397937 57397937 + Missense_Mutation SNP G G T TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 g.chr12:57397937G>T c.765C>A c.(763-765)ttC>ttA p.F255L GBM 12 57398062 57398062 + Missense_Mutation SNP T T G TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 g.chr12:57398062T>G c.640A>C c.(640-642)Acc>Ccc p.T214P GBMLGG 12 57396685 57396685 + Missense_Mutation SNP G G T TCGA-76-6664-01A-11D-1845-08 TCGA-76-6664-10A-01D-1845-08 g.chr12:57396685G>T c.2017C>A c.(2017-2019)Ctt>Att p.L673I GBMLGG 12 57396726 57396726 + Missense_Mutation SNP A A G TCGA-28-2510-01A-01D-1696-08 TCGA-28-2510-10A-01D-1696-08 g.chr12:57396726A>G c.1976T>C c.(1975-1977)cTc>cCc p.L659P GBMLGG 12 57397618 57397618 + Missense_Mutation SNP G G T TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 g.chr12:57397618G>T c.1084C>A c.(1084-1086)Cat>Aat p.H362N GBMLGG 12 57397937 57397937 + Missense_Mutation SNP G G T TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 g.chr12:57397937G>T c.765C>A c.(763-765)ttC>ttA p.F255L GBMLGG 12 57398062 57398062 + Missense_Mutation SNP T T G TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 g.chr12:57398062T>G c.640A>C c.(640-642)Acc>Ccc p.T214P GBMLGG 12 57398076 57398076 + Missense_Mutation SNP G G A TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 g.chr12:57398076G>A c.626C>T c.(625-627)aCa>aTa p.T209I GBMLGG 12 57398141 57398141 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:57398141C>A c.561G>T c.(559-561)aaG>aaT p.K187N HNSC 12 57396829 57396829 + Missense_Mutation SNP G G A TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 g.chr12:57396829G>A c.1873C>T c.(1873-1875)Cgg>Tgg p.R625W HNSC 12 57397279 57397279 + Missense_Mutation SNP G G C TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 g.chr12:57397279G>C c.1423C>G c.(1423-1425)Cta>Gta p.L475V HNSC 12 57397891 57397891 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr12:57397891T>C c.811A>G c.(811-813)Act>Gct p.T271A HNSC 12 57398238 57398238 + Missense_Mutation SNP G G A TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 g.chr12:57398238G>A c.464C>T c.(463-465)cCc>cTc p.P155L KIPAN 12 57396861 57396861 + Missense_Mutation SNP A A G TCGA-B0-5692-01A-11D-1534-10 TCGA-B0-5692-11A-01D-1534-10 g.chr12:57396861A>G c.1841T>C c.(1840-1842)tTt>tCt p.F614S KIPAN 12 57397920 57397923 + Frame_Shift_Del DEL AGGA AGGA - TCGA-B0-5698-01A-11D-1669-08 TCGA-B0-5698-10A-01D-1669-08 g.chr12:57397920_57397923delAGGA c.779_782delTCCT c.(778-783)ttcctcfs p.FL260fs KIRC 12 57396861 57396861 + Missense_Mutation SNP A A G TCGA-B0-5692-01A-11D-1534-10 TCGA-B0-5692-11A-01D-1534-10 g.chr12:57396861A>G c.1841T>C c.(1840-1842)tTt>tCt p.F614S KIRC 12 57397920 57397923 + Frame_Shift_Del DEL AGGA AGGA - TCGA-B0-5698-01A-11D-1669-08 TCGA-B0-5698-10A-01D-1669-08 g.chr12:57397920_57397923delAGGA c.779_782delTCCT c.(778-783)ttcctcfs p.FL260fs LGG 12 57397618 57397618 + Missense_Mutation SNP G G T TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 g.chr12:57397618G>T c.1084C>A c.(1084-1086)Cat>Aat p.H362N LGG 12 57398076 57398076 + Missense_Mutation SNP G G A TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 g.chr12:57398076G>A c.626C>T c.(625-627)aCa>aTa p.T209I LGG 12 57398141 57398141 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:57398141C>A c.561G>T c.(559-561)aaG>aaT p.K187N LIHC 12 57397205 57397205 + Silent SNP C C T TCGA-BC-A112-01A-11D-A12Z-10 TCGA-BC-A112-11A-11D-A12Z-10 g.chr12:57397205C>T c.1497G>A c.(1495-1497)acG>acA p.T499T LIHC 12 57397645 57397645 + Missense_Mutation SNP C C G TCGA-CC-A7IH-01A-11D-A33K-10 TCGA-CC-A7IH-10A-01D-A33K-10 g.chr12:57397645C>G c.1057G>C c.(1057-1059)Gag>Cag p.E353Q LUAD 12 57396578 57396578 + Missense_Mutation SNP C C G TCGA-99-8025-01A-11D-2238-08 TCGA-99-8025-10A-01D-2238-08 g.chr12:57396578C>G c.2124G>C c.(2122-2124)aaG>aaC p.K708N LUAD 12 57396734 57396734 + Silent SNP C C A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 g.chr12:57396734C>A c.1968G>T c.(1966-1968)tcG>tcT p.S656S LUAD 12 57396914 57396914 + Silent SNP C C T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 g.chr12:57396914C>T c.1788G>A c.(1786-1788)ctG>ctA p.L596L LUAD 12 57396984 57396984 + Missense_Mutation SNP C C T TCGA-05-5425-01A-02D-1625-08 TCGA-05-5425-10A-01D-1625-08 g.chr12:57396984C>T c.1718G>A c.(1717-1719)gGg>gAg p.G573E LUAD 12 57397533 57397533 + Missense_Mutation SNP T T C TCGA-55-8616-01A-11D-2393-08 TCGA-55-8616-10A-01D-2393-08 g.chr12:57397533T>C c.1169A>G c.(1168-1170)cAt>cGt p.H390R LUAD 12 57398384 57398384 + Silent SNP A A G TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 g.chr12:57398384A>G c.318T>C c.(316-318)gcT>gcC p.A106A LUAD 12 57398575 57398575 + Missense_Mutation SNP C C T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 g.chr12:57398575C>T c.127G>A c.(127-129)Gcc>Acc p.A43T LUAD 12 57398632 57398632 + Missense_Mutation SNP G G A TCGA-99-8032-01A-11D-2238-08 TCGA-99-8032-10A-01D-2238-08 g.chr12:57398632G>A c.70C>T c.(70-72)Cgg>Tgg p.R24W LUSC 12 57398015 57398015 + Silent SNP G G A TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 g.chr12:57398015G>A c.687C>T c.(685-687)ctC>ctT p.L229L OV 12 57398678 57398678 + Silent SNP T T C TCGA-42-2590-01A-01D-1526-09 TCGA-42-2590-10A-01D-1526-09 g.chr12:57398678T>C c.24A>G c.(22-24)caA>caG p.Q8Q PAAD 12 57396934 57396934 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr12:57396934G>T c.1768C>A c.(1768-1770)Ctg>Atg p.L590M PAAD 12 57397488 57397488 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr12:57397488C>T c.1214G>A c.(1213-1215)tGt>tAt p.C405Y PAAD 12 57397725 57397725 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr12:57397725C>A c.977G>T c.(976-978)aGt>aTt p.S326I PRAD 12 57397205 57397205 + Silent SNP C C T TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-10A-01D-2114-08 g.chr12:57397205C>T c.1497G>A c.(1495-1497)acG>acA p.T499T PRAD 12 57398256 57398256 + Missense_Mutation SNP G G A TCGA-YL-A8SC-01A-11D-A377-08 TCGA-YL-A8SC-10A-01D-A37A-08 g.chr12:57398256G>A c.446C>T c.(445-447)tCg>tTg p.S149L READ 12 57397042 57397042 + Missense_Mutation SNP G G A TCGA-AG-3574-01A-01W-0831-10 TCGA-AG-3574-10A-01W-0831-10 g.chr12:57397042G>A c.1660C>T c.(1660-1662)Cgc>Tgc p.R554C SKCM 12 57396571 57396571 + Missense_Mutation SNP C C T TCGA-EE-A29N-06A-12D-A197-08 TCGA-EE-A29N-10A-01D-A199-08 g.chr12:57396571C>T c.2131G>A c.(2131-2133)Gac>Aac p.D711N SKCM 12 57396572 57396572 + Silent SNP C C T TCGA-EE-A29N-06A-12D-A197-08 TCGA-EE-A29N-10A-01D-A199-08 g.chr12:57396572C>T c.2130G>A c.(2128-2130)ccG>ccA p.P710P SKCM 12 57396833 57396833 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 g.chr12:57396833G>A c.1869C>T c.(1867-1869)caC>caT p.H623H SKCM 12 57397095 57397095 + Missense_Mutation SNP G G A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 g.chr12:57397095G>A c.1607C>T c.(1606-1608)gCc>gTc p.A536V SKCM 12 57397310 57397310 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 g.chr12:57397310G>A c.1392C>T c.(1390-1392)ttC>ttT p.F464F SKCM 12 57397398 57397398 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 g.chr12:57397398G>A c.1304C>T c.(1303-1305)cCc>cTc p.P435L SKCM 12 57397399 57397399 + Missense_Mutation SNP G G A TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr12:57397399G>A c.1303C>T c.(1303-1305)Ccc>Tcc p.P435S SKCM 12 57397508 57397508 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 g.chr12:57397508G>A c.1194C>T c.(1192-1194)ttC>ttT p.F398F SKCM 12 57397878 57397878 + Missense_Mutation SNP G G A TCGA-EE-A2GH-06A-11D-A196-08 TCGA-EE-A2GH-10A-01D-A198-08 g.chr12:57397878G>A c.824C>T c.(823-825)tCc>tTc p.S275F SKCM 12 57397974 57397974 + Missense_Mutation SNP G G A TCGA-D3-A51J-06A-11D-A25O-08 TCGA-D3-A51J-10A-01D-A25O-08 g.chr12:57397974G>A c.728C>T c.(727-729)tCc>tTc p.S243F SKCM 12 57398515 57398515 + Missense_Mutation SNP C C G TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr12:57398515C>G c.187G>C c.(187-189)Ggg>Cgg p.G63R SKCM 12 57398520 57398520 + Missense_Mutation SNP T T A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr12:57398520T>A c.182A>T c.(181-183)aAt>aTt p.N61I SKCM 12 57398536 57398536 + Nonsense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 g.chr12:57398536G>A c.166C>T c.(166-168)Cag>Tag p.Q56* SKCM 12 57398619 57398619 + Missense_Mutation SNP G G A TCGA-DA-A1HW-06A-11D-A19A-08 TCGA-DA-A1HW-10A-01D-A19A-08 g.chr12:57398619G>A c.83C>T c.(82-84)aCc>aTc p.T28I

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation ALL-US 12 57398391 57398391 single base substitution T C missense_variant E104G 311A>G BLCA-CN 12 57389181 57389181 single base substitution T C downstream_gene_variant BLCA-CN 12 57389244 57389244 single base substitution G A downstream_gene_variant BLCA-CN 12 57389729 57389729 single base substitution C G downstream_gene_variant BLCA-CN 12 57397012 57397012 single base substitution T C missense_variant S564G 1690A>G BLCA-US 12 57397508 57397508 single base substitution G A synonymous_variant F398F 1194C>T BLCA-US 12 57398642 57398642 single base substitution G C synonymous_variant L20L 60C>G BRCA-EU 12 57388120 57388120 single base substitution G C downstream_gene_variant BRCA-EU 12 57390636 57390636 single base substitution T C downstream_gene_variant BRCA-EU 12 57393269 57393269 deletion of <=200bp A - 3_prime_UTR_variant BRCA-EU 12 57394812 57394812 single base substitution G T 3_prime_UTR_variant BRCA-EU 12 57396563 57396563 single base substitution T A stop_lost *713C 2139A>T BRCA-EU 12 57399144 57399144 deletion of <=200bp A - intron_variant BRCA-EU 12 57399862 57399862 single base substitution C A intron_variant BRCA-EU 12 57400117 57400117 single base substitution C T intron_variant BRCA-EU 12 57401274 57401274 single base substitution T C upstream_gene_variant BRCA-EU 12 57401842 57401842 single base substitution A G upstream_gene_variant BRCA-EU 12 57402066 57402066 single base substitution T C upstream_gene_variant BRCA-EU 12 57402109 57402109 single base substitution C G upstream_gene_variant BRCA-EU 12 57403187 57403187 insertion of <=200bp - T upstream_gene_variant BRCA-EU 12 57403918 57403918 single base substitution A G upstream_gene_variant BRCA-EU 12 57404443 57404443 single base substitution C T upstream_gene_variant BRCA-EU 12 57404839 57404839 single base substitution C T upstream_gene_variant BRCA-FR 12 57388445 57388445 single base substitution C T downstream_gene_variant BRCA-FR 12 57396563 57396563 single base substitution T A stop_lost *713C 2139A>T BRCA-UK 12 57400156 57400156 single base substitution G A intron_variant BRCA-US 12 57389412 57389412 single base substitution G A downstream_gene_variant BRCA-US 12 57389644 57389644 single base substitution G A downstream_gene_variant BRCA-US 12 57397309 57397309 single base substitution G A missense_variant H465Y 1393C>T BRCA-US 12 57398476 57398476 single base substitution T G missense_variant T76P 226A>C BRCA-US 12 57398550 57398550 single base substitution G A missense_variant A51V 152C>T BTCA-JP 12 57389469 57389469 deletion of <=200bp C - downstream_gene_variant BTCA-JP 12 57389788 57389788 single base substitution C T downstream_gene_variant BTCA-JP 12 57396768 57396768 single base substitution C T missense_variant R645H 1934G>A CESC-US 12 57397132 57397132 single base substitution C G missense_variant E524Q 1570G>C CLLE-ES 12 57399567 57399567 single base substitution G T intron_variant COAD-US 12 57389286 57389286 single base substitution C T downstream_gene_variant COAD-US 12 57389643 57389643 single base substitution C T downstream_gene_variant COAD-US 12 57389722 57389722 single base substitution C T downstream_gene_variant COAD-US 12 57390030 57390030 single base substitution C T downstream_gene_variant COAD-US 12 57396584 57396584 single base substitution C T synonymous_variant A706A 2118G>A COAD-US 12 57397690 57397690 single base substitution G A missense_variant R338W 1012C>T COAD-US 12 57398096 57398096 single base substitution C T synonymous_variant P202P 606G>A COCA-CN 12 57388979 57388979 single base substitution C T downstream_gene_variant COCA-CN 12 57389504 57389504 single base substitution C T downstream_gene_variant ESAD-UK 12 57387631 57387631 single base substitution G C downstream_gene_variant ESAD-UK 12 57395163 57395163 single base substitution G A 3_prime_UTR_variant ESAD-UK 12 57398534 57398534 single base substitution C T synonymous_variant Q56Q 168G>A ESAD-UK 12 57400957 57400957 single base substitution C T upstream_gene_variant ESAD-UK 12 57404097 57404097 single base substitution C A upstream_gene_variant ESAD-UK 12 57404381 57404381 single base substitution C T upstream_gene_variant ESCA-CN 12 57398431 57398431 single base substitution C G missense_variant E91Q 271G>C GBM-US 12 57389618 57389618 single base substitution G T downstream_gene_variant GBM-US 12 57396685 57396685 single base substitution G T missense_variant L673I 2017C>A GBM-US 12 57397937 57397937 single base substitution G T missense_variant F255L 765C>A GBM-US 12 57398062 57398062 single base substitution T G missense_variant T214P 640A>C KIRC-US 12 57390041 57390041 single base substitution G A downstream_gene_variant KIRC-US 12 57396664 57396664 single base substitution C T missense_variant V680I 2038G>A KIRC-US 12 57396861 57396861 single base substitution A G missense_variant F614S 1841T>C KIRC-US 12 57397920 57397923 deletion of <=200bp AGGA - frameshift_variant FL260 KIRP-US 12 57389326 57389326 single base substitution G A downstream_gene_variant KIRP-US 12 57389791 57389791 single base substitution C G downstream_gene_variant LGG-US 12 57397618 57397618 single base substitution G T missense_variant H362N 1084C>A LGG-US 12 57398076 57398076 single base substitution G A missense_variant T209I 626C>T LICA-CN 12 57397851 57397851 single base substitution T G missense_variant K284T 851A>C LICA-FR 12 57389358 57389358 single base substitution G A downstream_gene_variant LICA-FR 12 57394525 57394525 single base substitution C A 3_prime_UTR_variant LICA-FR 12 57397116 57397122 deletion of <=200bp ACAGCCA - frameshift_variant MAV527 LICA-FR 12 57397291 57397291 single base substitution T C missense_variant I471V 1411A>G LIHC-US 12 57397205 57397205 single base substitution C T synonymous_variant T499T 1497G>A LIHC-US 12 57397645 57397645 single base substitution C G missense_variant E353Q 1057G>C LINC-JP 12 57390094 57390094 single base substitution T C downstream_gene_variant LINC-JP 12 57390182 57390182 single base substitution C T downstream_gene_variant LINC-JP 12 57395622 57395622 single base substitution A G 3_prime_UTR_variant LIRI-JP 12 57393865 57393865 single base substitution T C 3_prime_UTR_variant LIRI-JP 12 57394007 57394007 single base substitution T G 3_prime_UTR_variant LIRI-JP 12 57395210 57395210 single base substitution A G 3_prime_UTR_variant LIRI-JP 12 57396652 57396652 single base substitution T C missense_variant K684E 2050A>G LIRI-JP 12 57401663 57401663 single base substitution G A upstream_gene_variant LIRI-JP 12 57402574 57402574 single base substitution A G upstream_gene_variant LIRI-JP 12 57403317 57403317 single base substitution C T upstream_gene_variant LIRI-JP 12 57404756 57404756 single base substitution T C upstream_gene_variant LUSC-KR 12 57395117 57395117 single base substitution G T 3_prime_UTR_variant LUSC-US 12 57390016 57390016 single base substitution G A downstream_gene_variant LUSC-US 12 57398015 57398015 single base substitution G A synonymous_variant L229L 687C>T MALY-DE 12 57392515 57392515 single base substitution T C downstream_gene_variant MALY-DE 12 57395105 57395105 single base substitution C A 3_prime_UTR_variant MALY-DE 12 57402055 57402055 single base substitution T G upstream_gene_variant MALY-DE 12 57403454 57403454 single base substitution C A upstream_gene_variant MALY-DE 12 57403876 57403876 single base substitution T C upstream_gene_variant MELA-AU 12 57387986 57387986 single base substitution C A downstream_gene_variant MELA-AU 12 57388065 57388065 single base substitution C T downstream_gene_variant MELA-AU 12 57388134 57388134 single base substitution C T downstream_gene_variant MELA-AU 12 57388327 57388327 single base substitution G A downstream_gene_variant MELA-AU 12 57388447 57388447 single base substitution C T downstream_gene_variant MELA-AU 12 57388917 57388917 single base substitution C T downstream_gene_variant MELA-AU 12 57389028 57389028 single base substitution C T downstream_gene_variant MELA-AU 12 57389251 57389251 single base substitution G A downstream_gene_variant MELA-AU 12 57389496 57389496 single base substitution G C downstream_gene_variant MELA-AU 12 57389618 57389618 single base substitution G A downstream_gene_variant MELA-AU 12 57390017 57390017 single base substitution G A downstream_gene_variant MELA-AU 12 57390289 57390289 single base substitution G A downstream_gene_variant MELA-AU 12 57390510 57390510 single base substitution G A downstream_gene_variant MELA-AU 12 57391417 57391417 single base substitution G A downstream_gene_variant MELA-AU 12 57391722 57391722 single base substitution G A downstream_gene_variant MELA-AU 12 57392359 57392359 single base substitution G A downstream_gene_variant MELA-AU 12 57392516 57392516 single base substitution C T downstream_gene_variant MELA-AU 12 57392562 57392562 single base substitution C A downstream_gene_variant MELA-AU 12 57392724 57392724 single base substitution G A 3_prime_UTR_variant MELA-AU 12 57392820 57392850 deletion of <=200bp AGACGTCAACAACTCTTCTCTGTTTCATAAG - 3_prime_UTR_variant MELA-AU 12 57392950 57392950 single base substitution G A 3_prime_UTR_variant MELA-AU 12 57393024 57393024 single base substitution G A 3_prime_UTR_variant MELA-AU 12 57393250 57393250 single base substitution G A 3_prime_UTR_variant MELA-AU 12 57393513 57393513 single base substitution T C 3_prime_UTR_variant MELA-AU 12 57394197 57394197 single base substitution C A 3_prime_UTR_variant MELA-AU 12 57394228 57394228 single base substitution G A 3_prime_UTR_variant MELA-AU 12 57394632 57394633 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 12 57395100 57395100 single base substitution G A 3_prime_UTR_variant MELA-AU 12 57395191 57395191 single base substitution C T 3_prime_UTR_variant MELA-AU 12 57395550 57395550 single base substitution C T 3_prime_UTR_variant MELA-AU 12 57395836 57395836 single base substitution A C 3_prime_UTR_variant MELA-AU 12 57396583 57396583 single base substitution C A missense_variant D707Y 2119G>T MELA-AU 12 57396903 57396903 single base substitution G A missense_variant P600L 1799C>T MELA-AU 12 57397042 57397042 single base substitution G A missense_variant R554C 1660C>T MELA-AU 12 57398335 57398335 single base substitution G A missense_variant P123S 367C>T MELA-AU 12 57398496 57398496 single base substitution G A missense_variant T69I 206C>T MELA-AU 12 57398556 57398556 single base substitution G A missense_variant A49V 146C>T MELA-AU 12 57399744 57399745 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 57399801 57399801 single base substitution C T intron_variant MELA-AU 12 57399819 57399819 single base substitution G A intron_variant MELA-AU 12 57400428 57400428 single base substitution G A upstream_gene_variant MELA-AU 12 57401000 57401000 single base substitution C T upstream_gene_variant MELA-AU 12 57401054 57401054 single base substitution G A upstream_gene_variant MELA-AU 12 57402469 57402469 single base substitution G A upstream_gene_variant MELA-AU 12 57403218 57403218 single base substitution G A upstream_gene_variant MELA-AU 12 57403301 57403301 single base substitution G A upstream_gene_variant MELA-AU 12 57403555 57403555 single base substitution C T upstream_gene_variant MELA-AU 12 57403561 57403561 single base substitution C T upstream_gene_variant MELA-AU 12 57403925 57403926 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 12 57404061 57404061 single base substitution G A upstream_gene_variant MELA-AU 12 57404128 57404128 single base substitution C T upstream_gene_variant MELA-AU 12 57404358 57404358 single base substitution G A upstream_gene_variant MELA-AU 12 57404452 57404452 single base substitution C T upstream_gene_variant MELA-AU 12 57404586 57404586 single base substitution C T upstream_gene_variant MELA-AU 12 57404685 57404685 single base substitution G A upstream_gene_variant MELA-AU 12 57405092 57405092 single base substitution G A upstream_gene_variant ORCA-IN 12 57396599 57396599 single base substitution G C missense_variant I701M 2103C>G OV-AU 12 57387789 57387789 single base substitution G A downstream_gene_variant OV-AU 12 57403227 57403227 single base substitution T G upstream_gene_variant PACA-AU 12 57402432 57402432 single base substitution G A upstream_gene_variant PACA-AU 12 57403442 57403442 single base substitution C T upstream_gene_variant PACA-AU 12 57403815 57403815 single base substitution A G upstream_gene_variant PACA-AU 12 57405179 57405179 single base substitution G T upstream_gene_variant PACA-CA 12 57389556 57389556 single base substitution A G downstream_gene_variant PACA-CA 12 57390248 57390248 single base substitution C A downstream_gene_variant PACA-CA 12 57390501 57390501 single base substitution C G downstream_gene_variant PACA-CA 12 57392305 57392305 single base substitution A G downstream_gene_variant PACA-CA 12 57403714 57403714 single base substitution C T upstream_gene_variant PACA-CA 12 57404804 57404804 single base substitution G A upstream_gene_variant PAEN-IT 12 57404213 57404213 single base substitution G C upstream_gene_variant PBCA-DE 12 57387847 57387847 single base substitution A G downstream_gene_variant PBCA-DE 12 57405121 57405121 single base substitution G A upstream_gene_variant PRAD-UK 12 57398602 57398602 single base substitution T C missense_variant I34V 100A>G PRAD-US 12 57397205 57397205 single base substitution C T synonymous_variant T499T 1497G>A READ-US 12 57389630 57389630 single base substitution A T downstream_gene_variant RECA-EU 12 57399269 57399269 single base substitution C G intron_variant SKCA-BR 12 57390358 57390358 single base substitution G A downstream_gene_variant SKCA-BR 12 57392360 57392360 single base substitution G A downstream_gene_variant SKCA-BR 12 57392550 57392550 single base substitution G A downstream_gene_variant SKCA-BR 12 57397174 57397174 single base substitution A T missense_variant C510S 1528T>A SKCA-BR 12 57400300 57400300 single base substitution C T upstream_gene_variant SKCA-BR 12 57401622 57401622 single base substitution C T upstream_gene_variant SKCA-BR 12 57402647 57402647 single base substitution T G upstream_gene_variant SKCA-BR 12 57404998 57404998 single base substitution G A upstream_gene_variant SKCM-US 12 57389030 57389030 single base substitution G A downstream_gene_variant SKCM-US 12 57389082 57389082 single base substitution C T downstream_gene_variant SKCM-US 12 57389215 57389215 single base substitution G A downstream_gene_variant SKCM-US 12 57389466 57389466 single base substitution C T downstream_gene_variant SKCM-US 12 57389900 57389900 single base substitution G A downstream_gene_variant SKCM-US 12 57396833 57396833 single base substitution G A synonymous_variant H623H 1869C>T SKCM-US 12 57397095 57397095 single base substitution G A missense_variant A536V 1607C>T SKCM-US 12 57397310 57397310 single base substitution G A synonymous_variant F464F 1392C>T SKCM-US 12 57397398 57397398 single base substitution G A missense_variant P435L 1304C>T SKCM-US 12 57397399 57397399 single base substitution G A missense_variant P435S 1303C>T SKCM-US 12 57397508 57397508 single base substitution G A synonymous_variant F398F 1194C>T SKCM-US 12 57397878 57397878 single base substitution G A missense_variant S275F 824C>T SKCM-US 12 57397974 57397974 single base substitution G A missense_variant S243F 728C>T SKCM-US 12 57398251 57398251 single base substitution C T missense_variant E151K 451G>A SKCM-US 12 57398520 57398520 single base substitution T A missense_variant N61I 182A>T SKCM-US 12 57398536 57398536 single base substitution G A stop_gained Q56* 166C>T SKCM-US 12 57398619 57398619 single base substitution G A missense_variant T28I 83C>T STAD-US 12 57389029 57389029 single base substitution G T downstream_gene_variant STAD-US 12 57389178 57389178 single base substitution C T downstream_gene_variant STAD-US 12 57389247 57389247 single base substitution C T downstream_gene_variant STAD-US 12 57389505 57389505 single base substitution G A downstream_gene_variant STAD-US 12 57389547 57389547 single base substitution C T downstream_gene_variant STAD-US 12 57389660 57389660 single base substitution A G downstream_gene_variant STAD-US 12 57389756 57389756 single base substitution C T downstream_gene_variant STAD-US 12 57389924 57389924 single base substitution C G downstream_gene_variant STAD-US 12 57396722 57396722 single base substitution C T missense_variant M660I 1980G>A STAD-US 12 57397071 57397071 single base substitution C T missense_variant S544N 1631G>A STAD-US 12 57397343 57397343 single base substitution G A synonymous_variant C453C 1359C>T STAD-US 12 57397473 57397475 deletion of <=200bp AAG - disruptive_inframe_deletion FF409F STAD-US 12 57397688 57397688 single base substitution C T synonymous_variant R338R 1014G>A STAD-US 12 57397714 57397714 single base substitution A G synonymous_variant L330L 988T>C STAD-US 12 57398126 57398126 single base substitution G A synonymous_variant D192D 576C>T STAD-US 12 57398420 57398420 single base substitution T C synonymous_variant T94T 282A>G THCA-SA 12 57390038 57390038 single base substitution T C downstream_gene_variant THCA-SA 12 57394123 57394123 single base substitution C A 3_prime_UTR_variant THCA-SA 12 57394654 57394654 single base substitution G A 3_prime_UTR_variant THCA-SA 12 57395678 57395678 single base substitution T G 3_prime_UTR_variant THCA-US 12 57398352 57398352 single base substitution G A missense_variant A117V 350C>T UCEC-US 12 57389040 57389040 single base substitution C T downstream_gene_variant UCEC-US 12 57389152 57389152 single base substitution C T downstream_gene_variant UCEC-US 12 57389718 57389718 single base substitution C T downstream_gene_variant UCEC-US 12 57389789 57389789 single base substitution G A downstream_gene_variant UCEC-US 12 57389825 57389825 single base substitution C A downstream_gene_variant UCEC-US 12 57389842 57389842 single base substitution G A downstream_gene_variant UCEC-US 12 57389885 57389885 single base substitution C T downstream_gene_variant UCEC-US 12 57396573 57396573 single base substitution G A missense_variant P710L 2129C>T UCEC-US 12 57396717 57396717 single base substitution C T missense_variant R662H 1985G>A UCEC-US 12 57396823 57396823 single base substitution G A missense_variant H627Y 1879C>T UCEC-US 12 57396904 57396904 single base substitution G T missense_variant P600T 1798C>A UCEC-US 12 57397141 57397141 single base substitution G A missense_variant H521Y 1561C>T UCEC-US 12 57397160 57397160 single base substitution C T synonymous_variant A514A 1542G>A UCEC-US 12 57397202 57397202 single base substitution C T synonymous_variant L500L 1500G>A UCEC-US 12 57397276 57397276 single base substitution T G missense_variant N476H 1426A>C UCEC-US 12 57397300 57397300 single base substitution G A missense_variant R468W 1402C>T UCEC-US 12 57397315 57397315 single base substitution C A missense_variant D463Y 1387G>T UCEC-US 12 57397402 57397402 single base substitution C T missense_variant D434N 1300G>A UCEC-US 12 57397486 57397486 single base substitution C A stop_gained E406* 1216G>T UCEC-US 12 57397594 57397594 single base substitution G A synonymous_variant L370L 1108C>T UCEC-US 12 57398045 57398045 single base substitution C T synonymous_variant T219T 657G>A UCEC-US 12 57398419 57398419 single base substitution C A missense_variant D95Y 283G>T UCEC-US 12 57398602 57398602 single base substitution T C missense_variant I34V 100A>G

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-B0-4833-01 COSM3359854 c.2038G>A p.V680I Substitution - Missense 12:57002880-57002880 - T98G COSM1988085 c.1533T>G p.S511S Substitution - coding silent 12:57003385-57003385 - TCGA-DK-A2I1-01 COSM1299696 c.1194C>T p.F398F Substitution - coding silent 12:57003724-57003724 - MDA-MB-435 COSM1677099 c.2009G>T p.S670I Substitution - Missense 12:57002909-57002909 - TCGA-D7-6518-01 COSM4043748 c.282A>G p.T94T Substitution - coding silent 12:57004636-57004636 - TCGA-G4-6626-01 COSM1363199 c.2118G>A p.A706A Substitution - coding silent 12:57002800-57002800 - 587222 COSM941847 c.1387G>T p.D463Y Substitution - Missense 12:57003531-57003531 - TCGA-19-1790-01 COSM3398917 c.765C>A p.F255L Substitution - Missense 12:57004153-57004153 - 06-P2007 COSM1988098 c.1107G>C p.L369L Substitution - coding silent 12:57003811-57003811 - KM12 COSM1677100 c.556G>A p.E186K Substitution - Missense 12:57004362-57004362 - TCGA-BS-A0UV-01 COSM941851 c.283G>T p.D95Y Substitution - Missense 12:57004635-57004635 - CHC1712T COSM4791954 c.1411A>G p.I471V Substitution - Missense 12:57003507-57003507 - 38 COSM5733690 c.1967C>T p.S656L Substitution - Missense 12:57002951-57002951 - TCGA-BS-A0UV-01 COSM303592 c.1300G>A p.D434N Substitution - Missense 12:57003618-57003618 - WA19 COSM242300 c.233C>A p.A78D Substitution - Missense 12:57004685-57004685 - CSCC-20-T COSM4460481 c.1168C>T p.H390Y Substitution - Missense 12:57003750-57003750 - TCGA-AM-5820-01 COSM3688357 c.1012C>T p.R338W Substitution - Missense 12:57003906-57003906 - TCGA-ER-A19N-06 COSM3463613 c.166C>T p.Q56* Substitution - Nonsense 12:57004752-57004752 - HCC009T COSM5819781 c.851A>C p.K284T Substitution - Missense 12:57004067-57004067 - CSCC-11-T COSM4516388 c.1874_1875GG>AA p.R625Q Substitution - Missense 12:57003043-57003044 - TCGA-ER-A19N-06 COSM3463604 c.1869C>T p.H623H Substitution - coding silent 12:57003049-57003049 - TCGA-EE-A2MR-06 COSM3463612 c.182A>T p.N61I Substitution - Missense 12:57004736-57004736 - I2L-P19Tb-Tumor-Biopsy COSM5361597 c.1299C>T p.N433N Substitution - coding silent 12:57003619-57003619 - T155 COSM1177051 c.245A>C p.K82T Substitution - Missense 12:57004673-57004673 - LS411 COSM1988112 c.312G>T p.E104D Substitution - Missense 12:57004606-57004606 - TCGA-42-2590-01 COSM1323150 c.24A>G p.Q8Q Substitution - coding silent 12:57004894-57004894 - 2492723 COSM4043744 c.1359C>T p.C453C Substitution - coding silent 12:57003559-57003559 - TCGA-DM-A0XF-01 COSM1363201 c.606G>A p.P202P Substitution - coding silent 12:57004312-57004312 - TCGA-AP-A0LM-01 COSM941843 c.1542G>A p.A514A Substitution - coding silent 12:57003376-57003376 - TCGA-AD-6895-01 COSM1363201 c.606G>A p.P202P Substitution - coding silent 12:57004312-57004312 - TCGA-DA-A1HY-06 COSM3463605 c.1607C>T p.A536V Substitution - Missense 12:57003311-57003311 - TCGA-BS-A0TJ-01 COSM941838 c.2129C>T p.P710L Substitution - Missense 12:57002789-57002789 - B109 COSM1747161 c.1690A>G p.S564G Substitution - Missense 12:57003228-57003228 - TCGA-B0-5692-01 COSM468689 c.1841T>C p.F614S Substitution - Missense 12:57003077-57003077 - PT55 COSM5942516 c.650C>T p.P217L Substitution - Missense 12:57004268-57004268 - 587342 COSM1233144 c.1336G>A p.A446T Substitution - Missense 12:57003582-57003582 - T2269 COSM4742152 c.1855G>A p.E619K Substitution - Missense 12:57003063-57003063 - OSCC-GB_00800111 COSM4887810 c.2103C>G p.I701M Substitution - Missense 12:57002815-57002815 - HCC2157 COSM50385 c.295G>A p.V99I Substitution - Missense 12:57004623-57004623 - B109-Tumor COSM1747161 c.1690A>G p.S564G Substitution - Missense 12:57003228-57003228 - TCGA-AA-3663-01 COSM5100989 c.232G>A p.A78T Substitution - Missense 12:57004686-57004686 - HCA7 COSM4522224 c.1151G>A p.R384Q Substitution - Missense 12:57003767-57003767 - SC_9008 COSM1470648 c.1497G>A p.T499T Substitution - coding silent 12:57003421-57003421 - TCGA-D3-A51J-06 COSM3463610 c.728C>T p.S243F Substitution - Missense 12:57004190-57004190 - TCGA-AP-A059-01 COSM941842 c.1561C>T p.H521Y Substitution - Missense 12:57003357-57003357 - TCGA-AX-A0J0-01 COSM941847 c.1387G>T p.D463Y Substitution - Missense 12:57003531-57003531 - M14 COSM1677099 c.2009G>T p.S670I Substitution - Missense 12:57002909-57002909 - TCGA-D3-A5GO-06 COSM3463606 c.1392C>T p.F464F Substitution - coding silent 12:57003526-57003526 - PASFXA COSM5006044 c.311A>G p.E104G Substitution - Missense 12:57004607-57004607 - MD-143 COSM303592 c.1300G>A p.D434N Substitution - Missense 12:57003618-57003618 - TCGA-BR-8360-01 COSM4043747 c.576C>T p.D192D Substitution - coding silent 12:57004342-57004342 - C135 COSM4617401 c.309C>T p.Y103Y Substitution - coding silent 12:57004609-57004609 - TCGA-EJ-7315-01 COSM1470648 c.1497G>A p.T499T Substitution - coding silent 12:57003421-57003421 - TCGA-EE-A17X-06 COSM1299696 c.1194C>T p.F398F Substitution - coding silent 12:57003724-57003724 - ESO-H63 COSM1270716 c.1887G>A p.G629G Substitution - coding silent 12:57003031-57003031 - YUPLA COSM5375669 c.386_387CC>TT p.A129V Substitution - Missense 12:57004531-57004532 - CHC1712T COSM4791954 c.1411A>G p.I471V Substitution - Missense 12:57003507-57003507 - TCGA-AA-3833-01 COSM5112233 c.1090C>G p.R364G Substitution - Missense 12:57003828-57003828 - SNU-C2B COSM4209618 c.651C>A p.P217P Substitution - coding silent 12:57004267-57004267 - TCGA-AA-3715-01 COSM270576 c.907G>A p.D303N Substitution - Missense 12:57004011-57004011 - 2275_T COSM3954990 c.1140C>T p.H380H Substitution - coding silent 12:57003778-57003778 - TCGA-AA-3977-01 COSM5117900 c.680A>C p.Q227P Substitution - Missense 12:57004238-57004238 - TCGA-AP-A0LD-01 COSM941841 c.1798C>A p.P600T Substitution - Missense 12:57003120-57003120 - DN11190 COSM5789108 c.2139A>T p.*713C Nonstop extension 12:57002779-57002779 - TCGA-HU-A4H4-01 COSM4043742 c.1980G>A p.M660I Substitution - Missense 12:57002938-57002938 - 2492722 COSM4043744 c.1359C>T p.C453C Substitution - coding silent 12:57003559-57003559 - TCGA-AA-3492-01 COSM5097084 c.1606G>A p.A536T Substitution - Missense 12:57003312-57003312 - TCGA-D1-A103-01 COSM941844 c.1500G>A p.L500L Substitution - coding silent 12:57003418-57003418 - RKO COSM941842 c.1561C>T p.H521Y Substitution - Missense 12:57003357-57003357 - H1155 COSM1195451 c.1403G>A p.R468Q Substitution - Missense 12:57003515-57003515 - TCGA-AP-A0LM-01 COSM941839 c.1985G>A p.R662H Substitution - Missense 12:57002933-57002933 - TCGA-BR-4294-01 COSM4043745 c.1014G>A p.R338R Substitution - coding silent 12:57003904-57003904 - TCGA-AX-A0J0-01 COSM941848 c.1216G>T p.E406* Substitution - Nonsense 12:57003702-57003702 - TCGA-AA-A00N-01 COSM278186 c.638A>G p.D213G Substitution - Missense 12:57004280-57004280 - 2292387 COSM4610804 c.671T>C p.M224T Substitution - Missense 12:57004247-57004247 - Pat_21_B COSM5841568 c.1355A>T p.K452I Substitution - Missense 12:57003563-57003563 - TCGA-EE-A2GH-06 COSM3463609 c.824C>T p.S275F Substitution - Missense 12:57004094-57004094 - TARGET-30-PARETE COSM1289007 c.676A>C p.T226P Substitution - Missense 12:57004242-57004242 - CSCC-20-T COSM4460157 c.1155C>A p.N385K Substitution - Missense 12:57003763-57003763 - TCGA-66-2777-01 COSM694417 c.687C>T p.L229L Substitution - coding silent 12:57004231-57004231 - TCGA-BR-4184-01 COSM4043744 c.1359C>T p.C453C Substitution - coding silent 12:57003559-57003559 - ESO-130 COSM1270715 c.1873C>T p.R625W Substitution - Missense 12:57003045-57003045 - CSCC-16-T COSM4503222 c.634C>T p.H212Y Substitution - Missense 12:57004284-57004284 - TCGA-B5-A0K9-01 COSM941849 c.1108C>T p.L370L Substitution - coding silent 12:57003810-57003810 - TCGA-DB-5274-01 COSM3968338 c.1084C>A p.H362N Substitution - Missense 12:57003834-57003834 - TCGA-B5-A0JY-01 COSM941845 c.1426A>C p.N476H Substitution - Missense 12:57003492-57003492 - TCGA-DU-8168-01 COSM3968339 c.626C>T p.T209I Substitution - Missense 12:57004292-57004292 - LOVO COSM1988100 c.1073T>C p.L358P Substitution - Missense 12:57003845-57003845 - TCGA-AP-A054-01 COSM941852 c.100A>G p.I34V Substitution - Missense 12:57004818-57004818 - T2932 COSM1988072 c.2066delC p.P689fs*>24 Deletion - Frameshift 12:57002852-57002852 - TCGA-EL-A3H4-01 COSM3368891 c.350C>T p.A117V Substitution - Missense 12:57004568-57004568 - TCGA-A5-A0VP-01 COSM941846 c.1402C>T p.R468W Substitution - Missense 12:57003516-57003516 - TCGA-EB-A553-01 COSM3463611 c.451G>A p.E151K Substitution - Missense 12:57004467-57004467 - TCGA-BC-A112-01 COSM1470648 c.1497G>A p.T499T Substitution - coding silent 12:57003421-57003421 - TCGA-CG-5721-01 COSM4043746 c.988T>C p.L330L Substitution - coding silent 12:57003930-57003930 - TCGA-AA-3672-01 COSM5102235 c.343C>A p.L115I Substitution - Missense 12:57004575-57004575 - TCGA-EE-A29D-06 COSM3463608 c.1303C>T p.P435S Substitution - Missense 12:57003615-57003615 - TCGA-D3-A5GO-06 COSM3463607 c.1304C>T p.P435L Substitution - Missense 12:57003614-57003614 - 2492720 COSM4043744 c.1359C>T p.C453C Substitution - coding silent 12:57003559-57003559 - TCGA-A8-A07C-01 COSM431550 c.152C>T p.A51V Substitution - Missense 12:57004766-57004766 - TCGA-BS-A0UV-01 COSM941840 c.1879C>T p.H627Y Substitution - Missense 12:57003039-57003039 - CHC307T COSM251284 c.1580_1586delTGGCTGT p.M527fs*124 Deletion - Frameshift 12:57003332-57003338 - MDA-N COSM1677099 c.2009G>T p.S670I Substitution - Missense 12:57002909-57002909 - ESCC-237T COSM3936065 c.271G>C p.E91Q Substitution - Missense 12:57004647-57004647 - TCGA-DA-A1HW-06 COSM3463614 c.83C>T p.T28I Substitution - Missense 12:57004835-57004835 - RK223_C01 COSM4943682 c.2050A>G p.K684E Substitution - Missense 12:57002868-57002868 - TCGA-HU-A4H3-01 COSM4043743 c.1631G>A p.S544N Substitution - Missense 12:57003287-57003287 - T3503 COSM1470648 c.1497G>A p.T499T Substitution - coding silent 12:57003421-57003421 - PT35 COSM5913477 c.227C>T p.T76I Substitution - Missense 12:57004691-57004691 - TCGA-A8-A0A6-01 COSM3812617 c.226A>C p.T76P Substitution - Missense 12:57004692-57004692 - PD7307a COSM5789108 c.2139A>T p.*713C Nonstop extension 12:57002779-57002779 - TCGA-AP-A0LP-01 COSM941850 c.657G>A p.T219T Substitution - coding silent 12:57004261-57004261 - TCGA-12-0821-01 COSM3747926 c.640A>C p.T214P Substitution - Missense 12:57004278-57004278 - BON-1 COSM5368214 c.94G>A p.V32I Substitution - Missense 12:57004824-57004824 - I2L-P19Tb-Tumor-Organoid COSM5361597 c.1299C>T p.N433N Substitution - coding silent 12:57003619-57003619 - T3498 COSM1988072 c.2066delC p.P689fs*>24 Deletion - Frameshift 12:57002852-57002852 - TCGA-76-6664-01 COSM3398916 c.2017C>A p.L673I Substitution - Missense 12:57002901-57002901 - ESO-859 COSM1240686 c.916T>C p.F306L Substitution - Missense 12:57004002-57004002 - TCGA-GD-A3OP-01 COSM1299697 c.60C>G p.L20L Substitution - coding silent 12:57004858-57004858 - pfg008T COSM1639185 c.1605C>T p.D535D Substitution - coding silent 12:57003313-57003313 - TCGA-DR-A0ZM-01 COSM459424 c.1570G>C p.E524Q Substitution - Missense 12:57003348-57003348 - 587336 COSM1233143 c.110G>A p.G37E Substitution - Missense 12:57004808-57004808 - TCGA-A6-3809-01 COSM5086723 c.1799C>A p.P600H Substitution - Missense 12:57003119-57003119 - PD18286a COSM3770661 c.609C>G p.P203P Substitution - coding silent 12:57004309-57004309 - CHC307T COSM251284 c.1580_1586delTGGCTGT p.M527fs*124 Deletion - Frameshift 12:57003332-57003338 - 2492721 COSM4043744 c.1359C>T p.C453C Substitution - coding silent 12:57003559-57003559 - CSCC-4-T COSM4454931 c.615A>T p.P205P Substitution - coding silent 12:57004303-57004303 - T3080 COSM4742153 c.973G>A p.D325N Substitution - Missense 12:57003945-57003945 - CSCC-40-T COSM4489286 c.345C>G p.L115L Substitution - coding silent 12:57004573-57004573 - BD185T COSM5501123 c.1934G>A p.R645H Substitution - Missense 12:57002984-57002984 - 0030_CRUK_PC_0030_T1_DNA COSM941852 c.100A>G p.I34V Substitution - Missense 12:57004818-57004818 - T578 COSM4742154 c.624G>T p.K208N Substitution - Missense 12:57004294-57004294 - TCGA-A7-A0CJ-01 COSM431549 c.1393C>T p.H465Y Substitution - Missense 12:57003525-57003525 - T84 COSM1988078 c.1862A>G p.N621S Substitution - Missense 12:57003056-57003056 - CSCC-20-T COSM4522224 c.1151G>A p.R384Q Substitution - Missense 12:57003767-57003767 - TCGA-CC-A7IH-01 COSM4923273 c.1057G>C p.E353Q Substitution - Missense 12:57003861-57003861 - KM12 COSM1677100 c.556G>A p.E186K Substitution - Missense 12:57004362-57004362 - 587376 COSM1233145 c.254G>A p.S85N Substitution - Missense 12:57004664-57004664 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.591025 12q13.3

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G 3-UTRSNV . c.2136+1356T>C 12 57395210 HC AGGA - Frameshift p.F260Sfs*7 c.779_782delTCCT 12 57397920 RCCC A G Missense p.F306L c.916T>C 12 57397786 ESCA A G Missense p.F614S c.1841T>C 12 57396861 RCCC A G Missense p.L659P c.1976T>C 12 57396726 GBM A G Synonymous p.A106A c.318T>C 12 57398384 LUAD C A Synonymous p.S656S c.1968G>T 12 57396734 LUAD CC TT Missense p.D711N c.2130_2131delinsAA 12 57396571 CM C G Missense p.G63R c.187G>C 12 57398515 CM C T Missense p.A43T c.127G>A 12 57398575 LUAD C T Missense p.V680I c.2038G>A 12 57396664 RCCC C T Synonymous p.G629G c.1887G>A 12 57396815 ESCA C T Synonymous p.L596L c.1788G>A 12 57396914 LUAD C T Synonymous p.Q290Q c.870G>A 12 57397832 STAD C T Synonymous p.R338R c.1014G>A 12 57397688 STAD C T Synonymous p.T219T c.657G>A 12 57398045 UCEC C T Synonymous p.T499T c.1497G>A 12 57397205 PRAD G A Missense p.A117V c.350C>T 12 57398352 THCA G A Missense p.A51V c.152C>T 12 57398550 BRCA G A Missense p.A536V c.1607C>T 12 57397095 CM G A Missense p.H465Y c.1393C>T 12 57397309 BRCA G A Missense p.P148L c.443C>T 12 57398259 CM G A Missense p.P148S c.442C>T 12 57398260 CM G A Missense p.P155L c.464C>T 12 57398238 HNSC G A Missense p.P710L c.2129C>T 12 57396573 UCEC G A Missense p.R468W c.1402C>T 12 57397300 UCEC G A Missense p.R554C c.1660C>T 12 57397042 COREAD G A Missense p.R625W c.1873C>T 12 57396829 ESCA G A Missense p.R625W c.1873C>T 12 57396829 HNSC G A Missense p.S275F c.824C>T 12 57397878 CM G A Missense p.S671F c.2012C>T 12 57396690 CM G A Missense p.T209I c.626C>T 12 57398076 LGG G A Missense p.T28I c.83C>T 12 57398619 CM G A Nonsense p.Q56* c.166C>T 12 57398536 CM G A Synonymous p.D535D c.1605C>T 12 57397097 STAD G A Synonymous p.F398F c.1194C>T 12 57397508 BLCA G A Synonymous p.F398F c.1194C>T 12 57397508 CM G A Synonymous p.H623H c.1869C>T 12 57396833 CM G A Synonymous p.L109L c.325C>T 12 57398377 CM G A Synonymous p.L115L c.345C>T 12 57398357 CM G A Synonymous p.L229L c.687C>T 12 57398015 LUSC G A Synonymous p.L370L c.1108C>T 12 57397594 UCEC G C Synonymous p.L20L c.60C>G 12 57398642 BLCA G T Missense p.F255L c.765C>A 12 57397937 GBM G T Missense p.L673I c.2017C>A 12 57396685 GBM G T Missense p.P600T c.1798C>A 12 57396904 UCEC T C Missense p.I34V c.100A>G 12 57398602 UCEC T C Synonymous p.T94T c.282A>G 12 57398420 STAD T G Missense p.T214P c.640A>C 12 57398062 GBM