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 8 12580711 12580711 + Missense_Mutation SNP A A G TCGA-PK-A5HB-01A-11D-A29I-10 TCGA-PK-A5HB-11A-11D-A29L-10 g.chr8:12580711A>G c.2216T>C c.(2215-2217)gTa>gCa p.V739A BLCA 8 12583256 12583256 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 g.chr8:12583256C>T c.2143G>A c.(2143-2145)Gag>Aag p.E715K BLCA 8 12583256 12583256 + Missense_Mutation SNP C C T TCGA-ZF-A9R9-01A-11D-A38G-08 TCGA-ZF-A9R9-10A-01D-A38J-08 g.chr8:12583256C>T c.2143G>A c.(2143-2145)Gag>Aag p.E715K BLCA 8 12583269 12583269 + Silent SNP G G A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr8:12583269G>A c.2130C>T c.(2128-2130)ttC>ttT p.F710F BLCA 8 12583373 12583373 + Nonsense_Mutation SNP C C A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 g.chr8:12583373C>A c.2026G>T c.(2026-2028)Gag>Tag p.E676* BRCA 8 12586696 12586696 + Missense_Mutation SNP C C T TCGA-BH-A0W7-01A-11D-A10Y-09 TCGA-BH-A0W7-10A-01D-A110-09 g.chr8:12586696C>T c.1834G>A c.(1834-1836)Gat>Aat p.D612N BRCA 8 12594303 12594303 + Missense_Mutation SNP G G A TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 g.chr8:12594303G>A c.1358C>T c.(1357-1359)aCt>aTt p.T453I BRCA 8 12598445 12598445 + Missense_Mutation SNP G G A TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 g.chr8:12598445G>A c.901C>T c.(901-903)Ctc>Ttc p.L301F CESC 8 12586472 12586472 + Missense_Mutation SNP A A T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 g.chr8:12586472A>T c.1948T>A c.(1948-1950)Tta>Ata p.L650I CESC 8 12594212 12594212 + Missense_Mutation SNP C C G TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 g.chr8:12594212C>G c.1449G>C c.(1447-1449)atG>atC p.M483I CESC 8 12594230 12594230 + Missense_Mutation SNP G G T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 g.chr8:12594230G>T c.1431C>A c.(1429-1431)ttC>ttA p.F477L CESC 8 12594605 12594605 + Missense_Mutation SNP G G T TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 g.chr8:12594605G>T c.1158C>A c.(1156-1158)agC>agA p.S386R CHOL 8 12586483 12586483 + Missense_Mutation SNP C C A TCGA-W5-AA31-01A-11D-A417-09 TCGA-W5-AA31-10A-01D-A41A-09 g.chr8:12586483C>A c.1937G>T c.(1936-1938)cGg>cTg p.R646L COAD 8 12580614 12580614 + Silent SNP T T C TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr8:12580614T>C c.2313A>G c.(2311-2313)caA>caG p.Q771Q COAD 8 12580616 12580616 + Nonsense_Mutation SNP G G A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr8:12580616G>A c.2311C>T c.(2311-2313)Caa>Taa p.Q771* COAD 8 12580761 12580761 + Silent SNP T T C TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr8:12580761T>C c.2166A>G c.(2164-2166)gcA>gcG p.A722A COAD 8 12583292 12583292 + Nonsense_Mutation SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr8:12583292G>A c.2107C>T c.(2107-2109)Cga>Tga p.R703* COAD 8 12583306 12583306 + Nonsense_Mutation SNP A A T TCGA-AY-6196-01A-11D-1719-10 TCGA-AY-6196-10A-01D-1719-10 g.chr8:12583306A>T c.2093T>A c.(2092-2094)tTa>tAa p.L698* COAD 8 12583334 12583334 + Missense_Mutation SNP A A T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr8:12583334A>T c.2065T>A c.(2065-2067)Tct>Act p.S689T COAD 8 12586535 12586535 + Missense_Mutation SNP C C T TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr8:12586535C>T c.1885G>A c.(1885-1887)Gtg>Atg p.V629M COAD 8 12586690 12586690 + Missense_Mutation SNP G G C TCGA-D5-6536-01A-11D-1719-10 TCGA-D5-6536-10A-01D-1719-10 g.chr8:12586690G>C c.1840C>G c.(1840-1842)Caa>Gaa p.Q614E COAD 8 12586699 12586699 + Missense_Mutation SNP T T C TCGA-AA-3851-01A-01W-0995-10 TCGA-AA-3851-10A-01W-0995-10 g.chr8:12586699T>C c.1831A>G c.(1831-1833)Agt>Ggt p.S611G COAD 8 12586832 12586832 + Silent SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr8:12586832C>T c.1698G>A c.(1696-1698)aaG>aaA p.K566K COAD 8 12589275 12589276 + Frame_Shift_Ins INS - - T TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr8:12589275_12589276insT c.1657_1658insA c.(1657-1659)atafs p.I553fs COAD 8 12592878 12592878 + Missense_Mutation SNP C C T TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr8:12592878C>T c.1483G>A c.(1483-1485)Gga>Aga p.G495R COADREAD 8 12580614 12580614 + Silent SNP T T C TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr8:12580614T>C c.2313A>G c.(2311-2313)caA>caG p.Q771Q COADREAD 8 12580616 12580616 + Nonsense_Mutation SNP G G A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr8:12580616G>A c.2311C>T c.(2311-2313)Caa>Taa p.Q771* COADREAD 8 12580761 12580761 + Silent SNP T T C TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr8:12580761T>C c.2166A>G c.(2164-2166)gcA>gcG p.A722A COADREAD 8 12583292 12583292 + Nonsense_Mutation SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr8:12583292G>A c.2107C>T c.(2107-2109)Cga>Tga p.R703* COADREAD 8 12583306 12583306 + Nonsense_Mutation SNP A A T TCGA-AY-6196-01A-11D-1719-10 TCGA-AY-6196-10A-01D-1719-10 g.chr8:12583306A>T c.2093T>A c.(2092-2094)tTa>tAa p.L698* COADREAD 8 12583334 12583334 + Missense_Mutation SNP A A T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr8:12583334A>T c.2065T>A c.(2065-2067)Tct>Act p.S689T COADREAD 8 12586510 12586510 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr8:12586510G>A c.1910C>T c.(1909-1911)tCt>tTt p.S637F COADREAD 8 12586535 12586535 + Missense_Mutation SNP C C T TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr8:12586535C>T c.1885G>A c.(1885-1887)Gtg>Atg p.V629M COADREAD 8 12586690 12586690 + Missense_Mutation SNP G G C TCGA-D5-6536-01A-11D-1719-10 TCGA-D5-6536-10A-01D-1719-10 g.chr8:12586690G>C c.1840C>G c.(1840-1842)Caa>Gaa p.Q614E COADREAD 8 12586699 12586699 + Missense_Mutation SNP T T C TCGA-AA-3851-01A-01W-0995-10 TCGA-AA-3851-10A-01W-0995-10 g.chr8:12586699T>C c.1831A>G c.(1831-1833)Agt>Ggt p.S611G COADREAD 8 12586832 12586832 + Silent SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr8:12586832C>T c.1698G>A c.(1696-1698)aaG>aaA p.K566K COADREAD 8 12589275 12589276 + Frame_Shift_Ins INS - - T TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr8:12589275_12589276insT c.1657_1658insA c.(1657-1659)atafs p.I553fs COADREAD 8 12592878 12592878 + Missense_Mutation SNP C C T TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr8:12592878C>T c.1483G>A c.(1483-1485)Gga>Aga p.G495R COADREAD 8 12594230 12594230 + Silent SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr8:12594230G>A c.1431C>T c.(1429-1431)ttC>ttT p.F477F ESCA 8 12586755 12586755 + Missense_Mutation SNP C C T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 g.chr8:12586755C>T c.1775G>A c.(1774-1776)aGa>aAa p.R592K ESCA 8 12592793 12592793 + Splice_Site SNP A A G TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 g.chr8:12592793A>G c.e7+1 ESCA 8 12595527 12595527 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 g.chr8:12595527G>A c.1090C>T c.(1090-1092)Ctc>Ttc p.L364F GBMLGG 8 12594616 12594616 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr8:12594616C>T c.1147G>A c.(1147-1149)Gtc>Atc p.V383I GBMLGG 8 12595574 12595574 + Missense_Mutation SNP T T C TCGA-FG-6691-01A-11D-1893-08 TCGA-FG-6691-10A-01D-1893-08 g.chr8:12595574T>C c.1043A>G c.(1042-1044)aAa>aGa p.K348R HNSC 8 12583338 12583338 + Silent SNP A A T TCGA-CV-7248-01A-11D-2012-08 TCGA-CV-7248-10A-01D-2013-08 g.chr8:12583338A>T c.2061T>A c.(2059-2061)gtT>gtA p.V687V HNSC 8 12586411 12586411 + Splice_Site SNP T T G TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 g.chr8:12586411T>G c.2009A>C c.(2008-2010)aAg>aCg p.K670T HNSC 8 12586780 12586780 + Missense_Mutation SNP G G C TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 g.chr8:12586780G>C c.1750C>G c.(1750-1752)Ctc>Gtc p.L584V HNSC 8 12594431 12594431 + Missense_Mutation SNP T T A TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 g.chr8:12594431T>A c.1332A>T c.(1330-1332)agA>agT p.R444S HNSC 8 12595535 12595535 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr8:12595535G>A c.1082C>T c.(1081-1083)tCt>tTt p.S361F HNSC 8 12595579 12595579 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr8:12595579A>G c.1038T>C c.(1036-1038)tgT>tgC p.C346C HNSC 8 12598387 12598387 + Missense_Mutation SNP T T C TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 g.chr8:12598387T>C c.959A>G c.(958-960)cAa>cGa p.Q320R HNSC 8 12598402 12598402 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 g.chr8:12598402G>A c.944C>T c.(943-945)gCa>gTa p.A315V KIPAN 8 12586770 12586770 + Missense_Mutation SNP A A C TCGA-CW-5588-01A-01D-1534-10 TCGA-CW-5588-11A-01D-1535-10 g.chr8:12586770A>C c.1760T>G c.(1759-1761)tTt>tGt p.F587C KIPAN 8 12592860 12592860 + Missense_Mutation SNP T T G TCGA-AK-3430-01A-01D-1251-10 TCGA-AK-3430-10A-01D-1251-10 g.chr8:12592860T>G c.1501A>C c.(1501-1503)Aat>Cat p.N501H KIPAN 8 12592895 12592900 + In_Frame_Del DEL GGCTCA GGCTCA - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr8:12592895_12592900delGGCTCA c.1461_1466delTGAGCC c.(1459-1467)tttgagcca>tta p.487_489FEP>L KIRC 8 12586770 12586770 + Missense_Mutation SNP A A C TCGA-CW-5588-01A-01D-1534-10 TCGA-CW-5588-11A-01D-1535-10 g.chr8:12586770A>C c.1760T>G c.(1759-1761)tTt>tGt p.F587C KIRC 8 12592860 12592860 + Missense_Mutation SNP T T G TCGA-AK-3430-01A-01D-1251-10 TCGA-AK-3430-10A-01D-1251-10 g.chr8:12592860T>G c.1501A>C c.(1501-1503)Aat>Cat p.N501H KIRC 8 12592895 12592900 + In_Frame_Del DEL GGCTCA GGCTCA - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr8:12592895_12592900delGGCTCA c.1461_1466delTGAGCC c.(1459-1467)tttgagcca>tta p.487_489FEP>L LAML 8 12583332 12583332 + Silent SNP A A G TCGA-AB-2906-03A-01D-0739-09 TCGA-AB-2906-11A-01D-0739-09 g.chr8:12583332A>G c.2067T>C c.(2065-2067)tcT>tcC p.S689S LGG 8 12594616 12594616 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr8:12594616C>T c.1147G>A c.(1147-1149)Gtc>Atc p.V383I LGG 8 12595574 12595574 + Missense_Mutation SNP T T C TCGA-FG-6691-01A-11D-1893-08 TCGA-FG-6691-10A-01D-1893-08 g.chr8:12595574T>C c.1043A>G c.(1042-1044)aAa>aGa p.K348R LIHC 8 12580687 12580687 + Missense_Mutation SNP A A G TCGA-ED-A97K-01A-21D-A382-10 TCGA-ED-A97K-10A-01D-A385-10 g.chr8:12580687A>G c.2240T>C c.(2239-2241)gTt>gCt p.V747A LIHC 8 12586494 12586494 + Silent SNP A A G TCGA-ES-A2HT-01A-12D-A183-10 TCGA-ES-A2HT-11A-11D-A183-10 g.chr8:12586494A>G c.1926T>C c.(1924-1926)gtT>gtC p.V642V LIHC 8 12589255 12589255 + Nonsense_Mutation SNP C C A TCGA-DD-AACJ-01A-11D-A40R-10 TCGA-DD-AACJ-10A-01D-A40U-10 g.chr8:12589255C>A c.1678G>T c.(1678-1680)Gaa>Taa p.E560* LIHC 8 12600698 12600698 + Missense_Mutation SNP A A C TCGA-RC-A6M5-01A-11D-A32G-10 TCGA-RC-A6M5-10A-01D-A32G-10 g.chr8:12600698A>C c.815T>G c.(814-816)cTt>cGt p.L272R LUAD 8 12586805 12586805 + Missense_Mutation SNP C C A TCGA-44-8119-01A-11D-2238-08 TCGA-44-8119-10A-01D-2238-08 g.chr8:12586805C>A c.1725G>T c.(1723-1725)atG>atT p.M575I LUAD 8 12586807 12586807 + Missense_Mutation SNP T T C TCGA-44-6778-01A-11D-1855-08 TCGA-44-6778-10A-01D-1855-08 g.chr8:12586807T>C c.1723A>G c.(1723-1725)Atg>Gtg p.M575V LUAD 8 12594296 12594297 + Frame_Shift_Ins INS - - T TCGA-NJ-A55A-01A-11D-A25L-08 TCGA-NJ-A55A-10A-01D-A25L-08 g.chr8:12594296_12594297insT c.1364_1365insA c.(1363-1365)aatfs p.N455fs LUAD 8 12595582 12595582 + Silent SNP T T C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 g.chr8:12595582T>C c.1035A>G c.(1033-1035)ccA>ccG p.P345P LUAD 8 12600764 12600764 + Missense_Mutation SNP T T C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 g.chr8:12600764T>C c.749A>G c.(748-750)tAc>tGc p.Y250C LUSC 8 12583331 12583331 + Nonsense_Mutation SNP G G A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 g.chr8:12583331G>A c.2068C>T c.(2068-2070)Caa>Taa p.Q690* OV 8 12580616 12580616 + Missense_Mutation SNP G G T TCGA-61-2008-01A-02W-0722-08 TCGA-61-2008-11A-01W-0722-08 g.chr8:12580616G>T c.2311C>A c.(2311-2313)Caa>Aaa p.Q771K PAAD 8 12598479 12598479 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr8:12598479G>A c.867C>T c.(865-867)ctC>ctT p.L289L PRAD 8 12586450 12586450 + Missense_Mutation SNP C C A TCGA-VP-A87H-01A-11D-A34U-08 TCGA-VP-A87H-10A-01D-A34X-08 g.chr8:12586450C>A c.1970G>T c.(1969-1971)gGa>gTa p.G657V PRAD 8 12594257 12594257 + Silent SNP T T C TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr8:12594257T>C c.1404A>G c.(1402-1404)ccA>ccG p.P468P PRAD 8 12600768 12600768 + Missense_Mutation SNP T T G TCGA-KK-A8IA-01A-11D-A364-08 TCGA-KK-A8IA-11A-11D-A362-08 g.chr8:12600768T>G c.745A>C c.(745-747)Att>Ctt p.I249L READ 8 12586510 12586510 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr8:12586510G>A c.1910C>T c.(1909-1911)tCt>tTt p.S637F READ 8 12594230 12594230 + Silent SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr8:12594230G>A c.1431C>T c.(1429-1431)ttC>ttT p.F477F SKCM 8 12594427 12594427 + Nonsense_Mutation SNP T T A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 g.chr8:12594427T>A c.1336A>T c.(1336-1338)Aag>Tag p.K446* SKCM 8 12595517 12595517 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 g.chr8:12595517G>A c.1100C>T c.(1099-1101)cCt>cTt p.P367L SKCM 8 12598449 12598449 + Frame_Shift_Del DEL T T - TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr8:12598449delT c.897delA c.(895-897)ttafs p.L299fs SKCM 8 12600729 12600729 + Missense_Mutation SNP T T C TCGA-RP-A694-06A-11D-A30X-08 TCGA-RP-A694-10A-01D-A30X-08 g.chr8:12600729T>C c.784A>G c.(784-786)Aaa>Gaa p.K262E SKCM 8 12600738 12600738 + Nonsense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 g.chr8:12600738G>A c.775C>T c.(775-777)Caa>Taa p.Q259*

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 8 12580545 12580545 single base substitution C A 3_prime_UTR_variant BLCA-CN 8 12580545 12580545 single base substitution C A exon_variant BLCA-CN 8 12594253 12594253 single base substitution C G 3_prime_UTR_variant BLCA-CN 8 12594253 12594253 single base substitution C G downstream_gene_variant BLCA-CN 8 12594253 12594253 single base substitution C G missense_variant E113Q 337G>C BLCA-CN 8 12594253 12594253 single base substitution C G missense_variant E470Q 1408G>C BLCA-CN 8 12594253 12594253 single base substitution C G missense_variant E73Q 217G>C BLCA-CN 8 12594253 12594253 single base substitution C G upstream_gene_variant BLCA-US 8 12583256 12583256 single base substitution C T 3_prime_UTR_variant BLCA-US 8 12583256 12583256 single base substitution C T downstream_gene_variant BLCA-US 8 12583256 12583256 single base substitution C T exon_variant BLCA-US 8 12583256 12583256 single base substitution C T missense_variant E141K 421G>A BLCA-US 8 12583256 12583256 single base substitution C T missense_variant E318K 952G>A BLCA-US 8 12583256 12583256 single base substitution C T missense_variant E358K 1072G>A BLCA-US 8 12583256 12583256 single base substitution C T missense_variant E715K 2143G>A BRCA-EU 8 12574444 12574444 single base substitution C A downstream_gene_variant BRCA-EU 8 12574625 12574625 single base substitution T C downstream_gene_variant BRCA-EU 8 12575351 12575351 single base substitution C A downstream_gene_variant BRCA-EU 8 12575805 12575805 single base substitution C T downstream_gene_variant BRCA-EU 8 12577614 12577614 single base substitution T C downstream_gene_variant BRCA-EU 8 12578770 12578770 single base substitution C T downstream_gene_variant BRCA-EU 8 12579262 12579262 single base substitution C T downstream_gene_variant BRCA-EU 8 12579629 12579629 single base substitution G A 3_prime_UTR_variant BRCA-EU 8 12579629 12579629 single base substitution G A downstream_gene_variant BRCA-EU 8 12579813 12579813 single base substitution A T 3_prime_UTR_variant BRCA-EU 8 12579813 12579813 single base substitution A T downstream_gene_variant BRCA-EU 8 12579953 12579953 single base substitution C T 3_prime_UTR_variant BRCA-EU 8 12579953 12579953 single base substitution C T downstream_gene_variant BRCA-EU 8 12583526 12583526 single base substitution T C downstream_gene_variant BRCA-EU 8 12583526 12583526 single base substitution T C intron_variant BRCA-EU 8 12583526 12583526 single base substitution T C upstream_gene_variant BRCA-EU 8 12583632 12583632 single base substitution T C downstream_gene_variant BRCA-EU 8 12583632 12583632 single base substitution T C intron_variant BRCA-EU 8 12583632 12583632 single base substitution T C upstream_gene_variant BRCA-EU 8 12585274 12585274 single base substitution C G downstream_gene_variant BRCA-EU 8 12585274 12585274 single base substitution C G intron_variant BRCA-EU 8 12585274 12585274 single base substitution C G upstream_gene_variant BRCA-EU 8 12585329 12585329 insertion of <=200bp - C downstream_gene_variant BRCA-EU 8 12585329 12585329 insertion of <=200bp - C intron_variant BRCA-EU 8 12585329 12585329 insertion of <=200bp - C upstream_gene_variant BRCA-EU 8 12587931 12587931 single base substitution C G intron_variant BRCA-EU 8 12587931 12587931 single base substitution C G upstream_gene_variant BRCA-EU 8 12588040 12588040 single base substitution C T intron_variant BRCA-EU 8 12588040 12588040 single base substitution C T upstream_gene_variant BRCA-EU 8 12591380 12591380 single base substitution A C downstream_gene_variant BRCA-EU 8 12591380 12591380 single base substitution A C intron_variant BRCA-EU 8 12591380 12591380 single base substitution A C upstream_gene_variant BRCA-EU 8 12591428 12591428 single base substitution A T downstream_gene_variant BRCA-EU 8 12591428 12591428 single base substitution A T intron_variant BRCA-EU 8 12591428 12591428 single base substitution A T upstream_gene_variant BRCA-EU 8 12591528 12591567 deletion of <=200bp CTAATATTATGCCAAAAACCACAATTACTTTTGCACCAAC - downstream_gene_variant BRCA-EU 8 12591528 12591567 deletion of <=200bp CTAATATTATGCCAAAAACCACAATTACTTTTGCACCAAC - intron_variant BRCA-EU 8 12591528 12591567 deletion of <=200bp CTAATATTATGCCAAAAACCACAATTACTTTTGCACCAAC - upstream_gene_variant BRCA-EU 8 12591608 12591608 insertion of <=200bp - G downstream_gene_variant BRCA-EU 8 12591608 12591608 insertion of <=200bp - G intron_variant BRCA-EU 8 12591608 12591608 insertion of <=200bp - G upstream_gene_variant BRCA-EU 8 12592657 12592657 single base substitution A T downstream_gene_variant BRCA-EU 8 12592657 12592657 single base substitution A T intron_variant BRCA-EU 8 12593750 12593750 single base substitution C T downstream_gene_variant BRCA-EU 8 12593750 12593750 single base substitution C T intron_variant BRCA-EU 8 12593750 12593750 single base substitution C T upstream_gene_variant BRCA-EU 8 12594890 12594890 deletion of <=200bp A - downstream_gene_variant BRCA-EU 8 12594890 12594890 deletion of <=200bp A - intron_variant BRCA-EU 8 12594890 12594890 deletion of <=200bp A - upstream_gene_variant BRCA-EU 8 12595654 12595654 single base substitution C G splice_acceptor_variant BRCA-EU 8 12595654 12595654 single base substitution C G upstream_gene_variant BRCA-EU 8 12596865 12596865 single base substitution A C intron_variant BRCA-EU 8 12596865 12596865 single base substitution A C upstream_gene_variant BRCA-EU 8 12598341 12598341 single base substitution C G intron_variant BRCA-EU 8 12598341 12598341 single base substitution C G upstream_gene_variant BRCA-EU 8 12598549 12598549 single base substitution C G intron_variant BRCA-EU 8 12598549 12598549 single base substitution C G upstream_gene_variant BRCA-EU 8 12600029 12600029 single base substitution C T intron_variant BRCA-EU 8 12600029 12600029 single base substitution C T upstream_gene_variant BRCA-EU 8 12600124 12600124 single base substitution G A intron_variant BRCA-EU 8 12600124 12600124 single base substitution G A upstream_gene_variant BRCA-EU 8 12600296 12600296 single base substitution G A intron_variant BRCA-EU 8 12600296 12600296 single base substitution G A upstream_gene_variant BRCA-EU 8 12600957 12600957 single base substitution T C intron_variant BRCA-EU 8 12600957 12600957 single base substitution T C upstream_gene_variant BRCA-EU 8 12602227 12602227 single base substitution A G intron_variant BRCA-EU 8 12602227 12602227 single base substitution A G upstream_gene_variant BRCA-EU 8 12602796 12602796 single base substitution T C intron_variant BRCA-EU 8 12602796 12602796 single base substitution T C upstream_gene_variant BRCA-EU 8 12606632 12606632 single base substitution C T intron_variant BRCA-EU 8 12608671 12608671 single base substitution C T intron_variant BRCA-EU 8 12608883 12608883 single base substitution T G intron_variant BRCA-EU 8 12609477 12609477 single base substitution T C intron_variant BRCA-EU 8 12610519 12610519 single base substitution G A intron_variant BRCA-EU 8 12610640 12610640 deletion of <=200bp T - 5_prime_UTR_variant BRCA-EU 8 12610640 12610640 deletion of <=200bp T - intron_variant BRCA-EU 8 12610780 12610780 single base substitution A G 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 8 12610780 12610780 single base substitution A G intron_variant BRCA-EU 8 12610996 12610996 single base substitution A C 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 8 12610996 12610996 single base substitution A C intron_variant BRCA-EU 8 12611968 12611968 single base substitution G A intron_variant BRCA-EU 8 12611968 12611968 single base substitution G A upstream_gene_variant BRCA-EU 8 12612190 12612190 single base substitution C T intron_variant BRCA-EU 8 12612190 12612190 single base substitution C T upstream_gene_variant BRCA-EU 8 12614814 12614814 single base substitution A C upstream_gene_variant BRCA-EU 8 12614827 12614827 single base substitution C T upstream_gene_variant BRCA-EU 8 12615224 12615224 single base substitution C T upstream_gene_variant BRCA-EU 8 12616030 12616030 single base substitution C G upstream_gene_variant BRCA-FR 8 12579813 12579813 single base substitution A T 3_prime_UTR_variant BRCA-FR 8 12579813 12579813 single base substitution A T downstream_gene_variant BRCA-FR 8 12588040 12588040 single base substitution C T intron_variant BRCA-FR 8 12588040 12588040 single base substitution C T upstream_gene_variant BRCA-FR 8 12607526 12607526 single base substitution G A intron_variant BRCA-FR 8 12617573 12617573 single base substitution C A upstream_gene_variant BRCA-UK 8 12600029 12600029 single base substitution C T intron_variant BRCA-UK 8 12600029 12600029 single base substitution C T upstream_gene_variant BRCA-US 8 12586696 12586696 single base substitution C T 3_prime_UTR_variant BRCA-US 8 12586696 12586696 single base substitution C T exon_variant BRCA-US 8 12586696 12586696 single base substitution C T missense_variant D215N 643G>A BRCA-US 8 12586696 12586696 single base substitution C T missense_variant D255N 763G>A BRCA-US 8 12586696 12586696 single base substitution C T missense_variant D38N 112G>A BRCA-US 8 12586696 12586696 single base substitution C T missense_variant D612N 1834G>A BRCA-US 8 12586696 12586696 single base substitution C T upstream_gene_variant BRCA-US 8 12594303 12594303 single base substitution G A 3_prime_UTR_variant BRCA-US 8 12594303 12594303 single base substitution G A downstream_gene_variant BRCA-US 8 12594303 12594303 single base substitution G A intron_variant BRCA-US 8 12594303 12594303 single base substitution G A missense_variant T453I 1358C>T BRCA-US 8 12594303 12594303 single base substitution G A missense_variant T96I 287C>T BRCA-US 8 12594303 12594303 single base substitution G A upstream_gene_variant BRCA-US 8 12598445 12598445 single base substitution G A 5_prime_UTR_variant BRCA-US 8 12598445 12598445 single base substitution G A exon_variant BRCA-US 8 12598445 12598445 single base substitution G A missense_variant L301F 901C>T BRCA-US 8 12598445 12598445 single base substitution G A upstream_gene_variant BTCA-JP 8 12595409 12595409 single base substitution A C downstream_gene_variant BTCA-JP 8 12595409 12595409 single base substitution A C intron_variant BTCA-JP 8 12595409 12595409 single base substitution A C upstream_gene_variant CESC-US 8 12586472 12586472 single base substitution A T 3_prime_UTR_variant CESC-US 8 12586472 12586472 single base substitution A T downstream_gene_variant CESC-US 8 12586472 12586472 single base substitution A T missense_variant L253I 757T>A CESC-US 8 12586472 12586472 single base substitution A T missense_variant L293I 877T>A CESC-US 8 12586472 12586472 single base substitution A T missense_variant L650I 1948T>A CESC-US 8 12586472 12586472 single base substitution A T missense_variant L76I 226T>A CESC-US 8 12586472 12586472 single base substitution A T upstream_gene_variant CESC-US 8 12594212 12594212 single base substitution C G 3_prime_UTR_variant CESC-US 8 12594212 12594212 single base substitution C G downstream_gene_variant CESC-US 8 12594212 12594212 single base substitution C G missense_variant M126I 378G>C CESC-US 8 12594212 12594212 single base substitution C G missense_variant M483I 1449G>C CESC-US 8 12594212 12594212 single base substitution C G missense_variant M86I 258G>C CESC-US 8 12594212 12594212 single base substitution C G splice_region_variant CESC-US 8 12594212 12594212 single base substitution C G upstream_gene_variant CESC-US 8 12594230 12594230 single base substitution G T 3_prime_UTR_variant CESC-US 8 12594230 12594230 single base substitution G T downstream_gene_variant CESC-US 8 12594230 12594230 single base substitution G T missense_variant F120L 360C>A CESC-US 8 12594230 12594230 single base substitution G T missense_variant F477L 1431C>A CESC-US 8 12594230 12594230 single base substitution G T missense_variant F80L 240C>A CESC-US 8 12594230 12594230 single base substitution G T upstream_gene_variant CESC-US 8 12594605 12594605 single base substitution G T downstream_gene_variant CESC-US 8 12594605 12594605 single base substitution G T exon_variant CESC-US 8 12594605 12594605 single base substitution G T missense_variant S29R 87C>A CESC-US 8 12594605 12594605 single base substitution G T missense_variant S386R 1158C>A CESC-US 8 12594605 12594605 single base substitution G T upstream_gene_variant CLLE-ES 8 12605273 12605273 single base substitution T C intron_variant CLLE-ES 8 12605273 12605273 single base substitution T C upstream_gene_variant CLLE-ES 8 12618100 12618100 single base substitution C T upstream_gene_variant COAD-US 8 12586535 12586535 single base substitution C T 3_prime_UTR_variant COAD-US 8 12586535 12586535 single base substitution C T downstream_gene_variant COAD-US 8 12586535 12586535 single base substitution C T missense_variant V232M 694G>A COAD-US 8 12586535 12586535 single base substitution C T missense_variant V272M 814G>A COAD-US 8 12586535 12586535 single base substitution C T missense_variant V55M 163G>A COAD-US 8 12586535 12586535 single base substitution C T missense_variant V629M 1885G>A COAD-US 8 12586535 12586535 single base substitution C T upstream_gene_variant COAD-US 8 12586690 12586690 single base substitution G C 3_prime_UTR_variant COAD-US 8 12586690 12586690 single base substitution G C exon_variant COAD-US 8 12586690 12586690 single base substitution G C missense_variant Q217E 649C>G COAD-US 8 12586690 12586690 single base substitution G C missense_variant Q257E 769C>G COAD-US 8 12586690 12586690 single base substitution G C missense_variant Q40E 118C>G COAD-US 8 12586690 12586690 single base substitution G C missense_variant Q614E 1840C>G COAD-US 8 12586690 12586690 single base substitution G C upstream_gene_variant COAD-US 8 12586832 12586832 single base substitution C T 3_prime_UTR_variant COAD-US 8 12586832 12586832 single base substitution C T 5_prime_UTR_variant COAD-US 8 12586832 12586832 single base substitution C T exon_variant COAD-US 8 12586832 12586832 single base substitution C T synonymous_variant K169K 507G>A COAD-US 8 12586832 12586832 single base substitution C T synonymous_variant K209K 627G>A COAD-US 8 12586832 12586832 single base substitution C T synonymous_variant K566K 1698G>A COAD-US 8 12586832 12586832 single base substitution C T upstream_gene_variant COAD-US 8 12592878 12592878 single base substitution C T 3_prime_UTR_variant COAD-US 8 12592878 12592878 single base substitution C T downstream_gene_variant COAD-US 8 12592878 12592878 single base substitution C T exon_variant COAD-US 8 12592878 12592878 single base substitution C T missense_variant G138R 412G>A COAD-US 8 12592878 12592878 single base substitution C T missense_variant G495R 1483G>A COAD-US 8 12592878 12592878 single base substitution C T missense_variant G98R 292G>A COCA-CN 8 12586522 12586522 single base substitution G A 3_prime_UTR_variant COCA-CN 8 12586522 12586522 single base substitution G A downstream_gene_variant COCA-CN 8 12586522 12586522 single base substitution G A missense_variant P236L 707C>T COCA-CN 8 12586522 12586522 single base substitution G A missense_variant P276L 827C>T COCA-CN 8 12586522 12586522 single base substitution G A missense_variant P59L 176C>T COCA-CN 8 12586522 12586522 single base substitution G A missense_variant P633L 1898C>T COCA-CN 8 12586522 12586522 single base substitution G A upstream_gene_variant COCA-CN 8 12586880 12586880 single base substitution G T 5_prime_UTR_variant COCA-CN 8 12586880 12586880 single base substitution G T intron_variant COCA-CN 8 12586880 12586880 single base substitution G T upstream_gene_variant COCA-CN 8 12589370 12589370 single base substitution A C downstream_gene_variant COCA-CN 8 12589370 12589370 single base substitution A C splice_region_variant COCA-CN 8 12589370 12589370 single base substitution A C upstream_gene_variant COCA-CN 8 12595340 12595340 single base substitution G T downstream_gene_variant COCA-CN 8 12595340 12595340 single base substitution G T intron_variant COCA-CN 8 12595340 12595340 single base substitution G T upstream_gene_variant COCA-CN 8 12595459 12595459 single base substitution G T downstream_gene_variant COCA-CN 8 12595459 12595459 single base substitution G T intron_variant COCA-CN 8 12595459 12595459 single base substitution G T upstream_gene_variant COCA-CN 8 12598369 12598369 single base substitution G A intron_variant COCA-CN 8 12598369 12598369 single base substitution G A upstream_gene_variant COCA-CN 8 12600645 12600645 single base substitution T G intron_variant COCA-CN 8 12600645 12600645 single base substitution T G upstream_gene_variant COCA-CN 8 12601368 12601368 single base substitution T G intron_variant COCA-CN 8 12601368 12601368 single base substitution T G upstream_gene_variant COCA-CN 8 12608816 12608816 single base substitution T G intron_variant COCA-CN 8 12608820 12608820 single base substitution T G intron_variant COCA-CN 8 12611409 12611409 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant COCA-CN 8 12611409 12611409 single base substitution C A intron_variant COCA-CN 8 12612666 12612666 single base substitution G A intron_variant COCA-CN 8 12612666 12612666 single base substitution G A synonymous_variant A88A 264C>T COCA-CN 8 12612666 12612666 single base substitution G A upstream_gene_variant COCA-CN 8 12612789 12612789 single base substitution G C intron_variant COCA-CN 8 12612789 12612789 single base substitution G C synonymous_variant R47R 141C>G COCA-CN 8 12612789 12612789 single base substitution G C upstream_gene_variant ESAD-UK 8 12574424 12574424 single base substitution C T downstream_gene_variant ESAD-UK 8 12574516 12574516 single base substitution T C downstream_gene_variant ESAD-UK 8 12575545 12575545 single base substitution G A downstream_gene_variant ESAD-UK 8 12576106 12576106 single base substitution G A downstream_gene_variant ESAD-UK 8 12576280 12576280 single base substitution T C downstream_gene_variant ESAD-UK 8 12579009 12579009 single base substitution C G downstream_gene_variant ESAD-UK 8 12580141 12580141 single base substitution G A 3_prime_UTR_variant ESAD-UK 8 12580141 12580141 single base substitution G A downstream_gene_variant ESAD-UK 8 12582287 12582287 single base substitution A C downstream_gene_variant ESAD-UK 8 12582287 12582287 single base substitution A C intron_variant ESAD-UK 8 12586869 12586869 deletion of <=200bp A - 5_prime_UTR_variant ESAD-UK 8 12586869 12586869 deletion of <=200bp A - intron_variant ESAD-UK 8 12586869 12586869 deletion of <=200bp A - upstream_gene_variant ESAD-UK 8 12586997 12586997 single base substitution A C intron_variant ESAD-UK 8 12586997 12586997 single base substitution A C upstream_gene_variant ESAD-UK 8 12587134 12587134 single base substitution C G intron_variant ESAD-UK 8 12587134 12587134 single base substitution C G upstream_gene_variant ESAD-UK 8 12587552 12587552 single base substitution A C intron_variant ESAD-UK 8 12587552 12587552 single base substitution A C upstream_gene_variant ESAD-UK 8 12588885 12588885 single base substitution G A intron_variant ESAD-UK 8 12588885 12588885 single base substitution G A upstream_gene_variant ESAD-UK 8 12589636 12589636 single base substitution C A downstream_gene_variant ESAD-UK 8 12589636 12589636 single base substitution C A intron_variant ESAD-UK 8 12589636 12589636 single base substitution C A upstream_gene_variant ESAD-UK 8 12591922 12591922 deletion of <=200bp T - downstream_gene_variant ESAD-UK 8 12591922 12591922 deletion of <=200bp T - intron_variant ESAD-UK 8 12592228 12592228 single base substitution C T downstream_gene_variant ESAD-UK 8 12592228 12592228 single base substitution C T intron_variant ESAD-UK 8 12592758 12592758 single base substitution T G downstream_gene_variant ESAD-UK 8 12592758 12592758 single base substitution T G intron_variant ESAD-UK 8 12592915 12592915 single base substitution A G downstream_gene_variant ESAD-UK 8 12592915 12592915 single base substitution A G exon_variant ESAD-UK 8 12592915 12592915 single base substitution A G splice_region_variant ESAD-UK 8 12594185 12594185 single base substitution C T downstream_gene_variant ESAD-UK 8 12594185 12594185 single base substitution C T intron_variant ESAD-UK 8 12594185 12594185 single base substitution C T upstream_gene_variant ESAD-UK 8 12598102 12598102 single base substitution A G intron_variant ESAD-UK 8 12598102 12598102 single base substitution A G upstream_gene_variant ESAD-UK 8 12598828 12598828 single base substitution G T intron_variant ESAD-UK 8 12598828 12598828 single base substitution G T upstream_gene_variant ESAD-UK 8 12600477 12600477 single base substitution C T intron_variant ESAD-UK 8 12600477 12600477 single base substitution C T upstream_gene_variant ESAD-UK 8 12600970 12600970 single base substitution C T intron_variant ESAD-UK 8 12600970 12600970 single base substitution C T upstream_gene_variant ESAD-UK 8 12601692 12601692 single base substitution C T intron_variant ESAD-UK 8 12601692 12601692 single base substitution C T upstream_gene_variant ESAD-UK 8 12602233 12602233 single base substitution A G intron_variant ESAD-UK 8 12602233 12602233 single base substitution A G upstream_gene_variant ESAD-UK 8 12602603 12602603 deletion of <=200bp A - intron_variant ESAD-UK 8 12602603 12602603 deletion of <=200bp A - upstream_gene_variant ESAD-UK 8 12605750 12605750 single base substitution G T intron_variant ESAD-UK 8 12605750 12605750 single base substitution G T upstream_gene_variant ESAD-UK 8 12606581 12606581 single base substitution G A intron_variant ESAD-UK 8 12608311 12608311 single base substitution T C intron_variant ESAD-UK 8 12609615 12609615 single base substitution G C intron_variant ESAD-UK 8 12610369 12610369 single base substitution A T intron_variant ESAD-UK 8 12613147 12613147 single base substitution C G intron_variant ESAD-UK 8 12613147 12613147 single base substitution C G upstream_gene_variant ESAD-UK 8 12616028 12616028 single base substitution C T upstream_gene_variant ESAD-UK 8 12616686 12616686 single base substitution G T upstream_gene_variant ESAD-UK 8 12617453 12617453 single base substitution C T upstream_gene_variant ESAD-UK 8 12618389 12618389 single base substitution C A upstream_gene_variant ESAD-UK 8 12618509 12618509 single base substitution G T upstream_gene_variant ESCA-CN 8 12594547 12594547 single base substitution C A 3_prime_UTR_variant ESCA-CN 8 12594547 12594547 single base substitution C A downstream_gene_variant ESCA-CN 8 12594547 12594547 single base substitution C A missense_variant D20Y 58G>T ESCA-CN 8 12594547 12594547 single base substitution C A missense_variant D406Y 1216G>T ESCA-CN 8 12594547 12594547 single base substitution C A missense_variant D49Y 145G>T ESCA-CN 8 12594547 12594547 single base substitution C A upstream_gene_variant KIRC-US 8 12586770 12586770 single base substitution A C 3_prime_UTR_variant KIRC-US 8 12586770 12586770 single base substitution A C exon_variant KIRC-US 8 12586770 12586770 single base substitution A C missense_variant F13C 38T>G KIRC-US 8 12586770 12586770 single base substitution A C missense_variant F190C 569T>G KIRC-US 8 12586770 12586770 single base substitution A C missense_variant F230C 689T>G KIRC-US 8 12586770 12586770 single base substitution A C missense_variant F587C 1760T>G KIRC-US 8 12586770 12586770 single base substitution A C upstream_gene_variant KIRC-US 8 12592860 12592860 single base substitution T G 3_prime_UTR_variant KIRC-US 8 12592860 12592860 single base substitution T G downstream_gene_variant KIRC-US 8 12592860 12592860 single base substitution T G exon_variant KIRC-US 8 12592860 12592860 single base substitution T G missense_variant N104H 310A>C KIRC-US 8 12592860 12592860 single base substitution T G missense_variant N144H 430A>C KIRC-US 8 12592860 12592860 single base substitution T G missense_variant N501H 1501A>C LGG-US 8 12595574 12595574 single base substitution T C 5_prime_UTR_variant LGG-US 8 12595574 12595574 single base substitution T C exon_variant LGG-US 8 12595574 12595574 single base substitution T C missense_variant K348R 1043A>G LGG-US 8 12595574 12595574 single base substitution T C upstream_gene_variant LIHC-US 8 12586494 12586494 single base substitution A G 3_prime_UTR_variant LIHC-US 8 12586494 12586494 single base substitution A G downstream_gene_variant LIHC-US 8 12586494 12586494 single base substitution A G synonymous_variant V245V 735T>C LIHC-US 8 12586494 12586494 single base substitution A G synonymous_variant V285V 855T>C LIHC-US 8 12586494 12586494 single base substitution A G synonymous_variant V642V 1926T>C LIHC-US 8 12586494 12586494 single base substitution A G synonymous_variant V68V 204T>C LIHC-US 8 12586494 12586494 single base substitution A G upstream_gene_variant LINC-JP 8 12583975 12583975 single base substitution C A downstream_gene_variant LINC-JP 8 12583975 12583975 single base substitution C A intron_variant LINC-JP 8 12583975 12583975 single base substitution C A upstream_gene_variant LINC-JP 8 12594244 12594244 single base substitution C A 3_prime_UTR_variant LINC-JP 8 12594244 12594244 single base substitution C A downstream_gene_variant LINC-JP 8 12594244 12594244 single base substitution C A missense_variant D116Y 346G>T LINC-JP 8 12594244 12594244 single base substitution C A missense_variant D473Y 1417G>T LINC-JP 8 12594244 12594244 single base substitution C A missense_variant D76Y 226G>T LINC-JP 8 12594244 12594244 single base substitution C A upstream_gene_variant LINC-JP 8 12596116 12596116 single base substitution A T intron_variant LINC-JP 8 12596116 12596116 single base substitution A T upstream_gene_variant LINC-JP 8 12604717 12604717 single base substitution C A intron_variant LINC-JP 8 12604717 12604717 single base substitution C A upstream_gene_variant LINC-JP 8 12616087 12616087 single base substitution A T upstream_gene_variant LIRI-JP 8 12575508 12575508 single base substitution T C downstream_gene_variant LIRI-JP 8 12579612 12579612 single base substitution T A 3_prime_UTR_variant LIRI-JP 8 12579612 12579612 single base substitution T A downstream_gene_variant LIRI-JP 8 12581987 12581987 single base substitution C T downstream_gene_variant LIRI-JP 8 12581987 12581987 single base substitution C T intron_variant LIRI-JP 8 12583574 12583574 single base substitution T C downstream_gene_variant LIRI-JP 8 12583574 12583574 single base substitution T C intron_variant LIRI-JP 8 12583574 12583574 single base substitution T C upstream_gene_variant LIRI-JP 8 12583834 12583834 single base substitution A T downstream_gene_variant LIRI-JP 8 12583834 12583834 single base substitution A T intron_variant LIRI-JP 8 12583834 12583834 single base substitution A T upstream_gene_variant LIRI-JP 8 12584217 12584219 deletion of <=200bp TCA - downstream_gene_variant LIRI-JP 8 12584217 12584219 deletion of <=200bp TCA - intron_variant LIRI-JP 8 12584217 12584219 deletion of <=200bp TCA - upstream_gene_variant LIRI-JP 8 12584752 12584752 insertion of <=200bp - G downstream_gene_variant LIRI-JP 8 12584752 12584752 insertion of <=200bp - G intron_variant LIRI-JP 8 12584752 12584752 insertion of <=200bp - G upstream_gene_variant LIRI-JP 8 12589276 12589276 insertion of <=200bp - T 3_prime_UTR_variant LIRI-JP 8 12589276 12589276 insertion of <=200bp - T downstream_gene_variant LIRI-JP 8 12589276 12589276 insertion of <=200bp - T exon_variant LIRI-JP 8 12589276 12589276 insertion of <=200bp - T frameshift_variant I156N? LIRI-JP 8 12589276 12589276 insertion of <=200bp - T frameshift_variant I196N? LIRI-JP 8 12589276 12589276 insertion of <=200bp - T frameshift_variant I553N? LIRI-JP 8 12589276 12589276 insertion of <=200bp - T upstream_gene_variant LIRI-JP 8 12590410 12590410 single base substitution G T downstream_gene_variant LIRI-JP 8 12590410 12590410 single base substitution G T intron_variant LIRI-JP 8 12590410 12590410 single base substitution G T upstream_gene_variant LIRI-JP 8 12591783 12591784 deletion of <=200bp TA - downstream_gene_variant LIRI-JP 8 12591783 12591784 deletion of <=200bp TA - intron_variant LIRI-JP 8 12591783 12591784 deletion of <=200bp TA - upstream_gene_variant LIRI-JP 8 12591876 12591876 single base substitution A C downstream_gene_variant LIRI-JP 8 12591876 12591876 single base substitution A C intron_variant LIRI-JP 8 12591876 12591876 single base substitution A C upstream_gene_variant LIRI-JP 8 12594134 12594134 single base substitution T C downstream_gene_variant LIRI-JP 8 12594134 12594134 single base substitution T C intron_variant LIRI-JP 8 12594134 12594134 single base substitution T C upstream_gene_variant LIRI-JP 8 12594152 12594152 single base substitution G A downstream_gene_variant LIRI-JP 8 12594152 12594152 single base substitution G A intron_variant LIRI-JP 8 12594152 12594152 single base substitution G A upstream_gene_variant LIRI-JP 8 12594745 12594745 single base substitution T C downstream_gene_variant LIRI-JP 8 12594745 12594745 single base substitution T C intron_variant LIRI-JP 8 12594745 12594745 single base substitution T C upstream_gene_variant LIRI-JP 8 12595866 12595866 single base substitution T C intron_variant LIRI-JP 8 12595866 12595866 single base substitution T C upstream_gene_variant LIRI-JP 8 12596526 12596526 single base substitution C T intron_variant LIRI-JP 8 12596526 12596526 single base substitution C T upstream_gene_variant LIRI-JP 8 12600955 12600955 single base substitution C T intron_variant LIRI-JP 8 12600955 12600955 single base substitution C T upstream_gene_variant LIRI-JP 8 12601860 12601860 single base substitution C T intron_variant LIRI-JP 8 12601860 12601860 single base substitution C T upstream_gene_variant LIRI-JP 8 12602141 12602141 single base substitution C A intron_variant LIRI-JP 8 12602141 12602141 single base substitution C A upstream_gene_variant LIRI-JP 8 12603335 12603335 single base substitution A G intron_variant LIRI-JP 8 12603335 12603335 single base substitution A G upstream_gene_variant LIRI-JP 8 12609959 12609959 single base substitution A G intron_variant LIRI-JP 8 12610487 12610487 single base substitution G C intron_variant LIRI-JP 8 12611046 12611046 single base substitution A C 5_prime_UTR_variant LIRI-JP 8 12611046 12611046 single base substitution A C intron_variant LIRI-JP 8 12614451 12614451 single base substitution G A upstream_gene_variant LIRI-JP 8 12615799 12615799 single base substitution A G upstream_gene_variant LIRI-JP 8 12616192 12616192 single base substitution C T upstream_gene_variant LUSC-KR 8 12575786 12575786 single base substitution G A downstream_gene_variant LUSC-KR 8 12579337 12579337 single base substitution C G downstream_gene_variant LUSC-KR 8 12579418 12579418 single base substitution T A 3_prime_UTR_variant LUSC-KR 8 12579418 12579418 single base substitution T A downstream_gene_variant LUSC-KR 8 12580435 12580435 single base substitution T G 3_prime_UTR_variant LUSC-KR 8 12580435 12580435 single base substitution T G downstream_gene_variant LUSC-KR 8 12580435 12580435 single base substitution T G exon_variant LUSC-KR 8 12580769 12580769 single base substitution A C intron_variant LUSC-KR 8 12583480 12583480 single base substitution G A downstream_gene_variant LUSC-KR 8 12583480 12583480 single base substitution G A exon_variant LUSC-KR 8 12583480 12583480 single base substitution G A intron_variant LUSC-KR 8 12583666 12583666 single base substitution A G downstream_gene_variant LUSC-KR 8 12583666 12583666 single base substitution A G intron_variant LUSC-KR 8 12583666 12583666 single base substitution A G upstream_gene_variant LUSC-KR 8 12584647 12584647 single base substitution A T downstream_gene_variant LUSC-KR 8 12584647 12584647 single base substitution A T intron_variant LUSC-KR 8 12584647 12584647 single base substitution A T upstream_gene_variant LUSC-US 8 12583331 12583331 single base substitution G A 3_prime_UTR_variant LUSC-US 8 12583331 12583331 single base substitution G A downstream_gene_variant LUSC-US 8 12583331 12583331 single base substitution G A exon_variant LUSC-US 8 12583331 12583331 single base substitution G A stop_gained Q116* 346C>T LUSC-US 8 12583331 12583331 single base substitution G A stop_gained Q293* 877C>T LUSC-US 8 12583331 12583331 single base substitution G A stop_gained Q333* 997C>T LUSC-US 8 12583331 12583331 single base substitution G A stop_gained Q690* 2068C>T MALY-DE 8 12575273 12575273 single base substitution C T downstream_gene_variant MALY-DE 8 12580294 12580295 deletion of <=200bp CA - 3_prime_UTR_variant MALY-DE 8 12580294 12580295 deletion of <=200bp CA - downstream_gene_variant MALY-DE 8 12580294 12580295 deletion of <=200bp CA - exon_variant MALY-DE 8 12598482 12598482 single base substitution T A 5_prime_UTR_variant MALY-DE 8 12598482 12598482 single base substitution T A exon_variant MALY-DE 8 12598482 12598482 single base substitution T A synonymous_variant V288V 864A>T MALY-DE 8 12598482 12598482 single base substitution T A upstream_gene_variant MALY-DE 8 12607775 12607775 single base substitution T G intron_variant MALY-DE 8 12608758 12608758 single base substitution A C intron_variant MALY-DE 8 12610549 12610549 single base substitution A T 5_prime_UTR_variant MALY-DE 8 12610549 12610549 single base substitution A T intron_variant MALY-DE 8 12610799 12610799 single base substitution A T 5_prime_UTR_variant MALY-DE 8 12610799 12610799 single base substitution A T intron_variant MALY-DE 8 12613403 12613403 single base substitution C T intron_variant MALY-DE 8 12613403 12613403 single base substitution C T upstream_gene_variant MALY-DE 8 12615571 12615571 single base substitution C T upstream_gene_variant MELA-AU 8 12575009 12575009 single base substitution G A downstream_gene_variant MELA-AU 8 12575227 12575227 single base substitution G A downstream_gene_variant MELA-AU 8 12575964 12575965 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 8 12576040 12576041 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 8 12576349 12576349 single base substitution A T downstream_gene_variant MELA-AU 8 12577121 12577121 single base substitution G A downstream_gene_variant MELA-AU 8 12577347 12577347 single base substitution G A downstream_gene_variant MELA-AU 8 12577651 12577651 insertion of <=200bp - TG downstream_gene_variant MELA-AU 8 12577834 12577834 single base substitution G A downstream_gene_variant MELA-AU 8 12578272 12578272 single base substitution G A downstream_gene_variant MELA-AU 8 12578611 12578611 single base substitution C T downstream_gene_variant MELA-AU 8 12579779 12579779 single base substitution T G 3_prime_UTR_variant MELA-AU 8 12579779 12579779 single base substitution T G downstream_gene_variant MELA-AU 8 12580065 12580065 single base substitution G A 3_prime_UTR_variant MELA-AU 8 12580065 12580065 single base substitution G A downstream_gene_variant MELA-AU 8 12581425 12581425 single base substitution G A intron_variant MELA-AU 8 12581663 12581663 single base substitution G A intron_variant MELA-AU 8 12582175 12582175 single base substitution G A downstream_gene_variant MELA-AU 8 12582175 12582175 single base substitution G A intron_variant MELA-AU 8 12583052 12583052 single base substitution G A downstream_gene_variant MELA-AU 8 12583052 12583052 single base substitution G A intron_variant MELA-AU 8 12583235 12583236 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 8 12583235 12583236 multiple base substitution (>=2bp and <=200bp) CC TT splice_donor_variant MELA-AU 8 12583454 12583454 single base substitution G A downstream_gene_variant MELA-AU 8 12583454 12583454 single base substitution G A exon_variant MELA-AU 8 12583454 12583454 single base substitution G A intron_variant MELA-AU 8 12583727 12583727 single base substitution G A downstream_gene_variant MELA-AU 8 12583727 12583727 single base substitution G A intron_variant MELA-AU 8 12583727 12583727 single base substitution G A upstream_gene_variant MELA-AU 8 12584102 12584102 single base substitution G A downstream_gene_variant MELA-AU 8 12584102 12584102 single base substitution G A intron_variant MELA-AU 8 12584102 12584102 single base substitution G A upstream_gene_variant MELA-AU 8 12584709 12584709 single base substitution G A downstream_gene_variant MELA-AU 8 12584709 12584709 single base substitution G A intron_variant MELA-AU 8 12584709 12584709 single base substitution G A upstream_gene_variant MELA-AU 8 12586274 12586274 single base substitution G A downstream_gene_variant MELA-AU 8 12586274 12586274 single base substitution G A intron_variant MELA-AU 8 12586274 12586274 single base substitution G A upstream_gene_variant MELA-AU 8 12586369 12586369 single base substitution G A downstream_gene_variant MELA-AU 8 12586369 12586369 single base substitution G A intron_variant MELA-AU 8 12586369 12586369 single base substitution G A upstream_gene_variant MELA-AU 8 12586848 12586848 single base substitution G A 5_prime_UTR_variant MELA-AU 8 12586848 12586848 single base substitution G A intron_variant MELA-AU 8 12586848 12586848 single base substitution G A splice_region_variant MELA-AU 8 12586848 12586848 single base substitution G A upstream_gene_variant MELA-AU 8 12590481 12590481 single base substitution G A downstream_gene_variant MELA-AU 8 12590481 12590481 single base substitution G A intron_variant MELA-AU 8 12590481 12590481 single base substitution G A upstream_gene_variant MELA-AU 8 12591447 12591447 single base substitution T G downstream_gene_variant MELA-AU 8 12591447 12591447 single base substitution T G intron_variant MELA-AU 8 12591447 12591447 single base substitution T G upstream_gene_variant MELA-AU 8 12592058 12592058 single base substitution G A downstream_gene_variant MELA-AU 8 12592058 12592058 single base substitution G A intron_variant MELA-AU 8 12592714 12592714 single base substitution C T downstream_gene_variant MELA-AU 8 12592714 12592714 single base substitution C T intron_variant MELA-AU 8 12593300 12593300 single base substitution G T downstream_gene_variant MELA-AU 8 12593300 12593300 single base substitution G T intron_variant MELA-AU 8 12593300 12593300 single base substitution G T upstream_gene_variant MELA-AU 8 12593813 12593813 single base substitution A T downstream_gene_variant MELA-AU 8 12593813 12593813 single base substitution A T intron_variant MELA-AU 8 12593813 12593813 single base substitution A T upstream_gene_variant MELA-AU 8 12594229 12594229 single base substitution C T 3_prime_UTR_variant MELA-AU 8 12594229 12594229 single base substitution C T downstream_gene_variant MELA-AU 8 12594229 12594229 single base substitution C T missense_variant E121K 361G>A MELA-AU 8 12594229 12594229 single base substitution C T missense_variant E478K 1432G>A MELA-AU 8 12594229 12594229 single base substitution C T missense_variant E81K 241G>A MELA-AU 8 12594229 12594229 single base substitution C T upstream_gene_variant MELA-AU 8 12594624 12594624 single base substitution G A downstream_gene_variant MELA-AU 8 12594624 12594624 single base substitution G A exon_variant MELA-AU 8 12594624 12594624 single base substitution G A missense_variant S23L 68C>T MELA-AU 8 12594624 12594624 single base substitution G A missense_variant S380L 1139C>T MELA-AU 8 12594624 12594624 single base substitution G A upstream_gene_variant MELA-AU 8 12595464 12595465 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 8 12595464 12595465 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 8 12595464 12595465 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 8 12596667 12596669 deletion of <=200bp GTC - intron_variant MELA-AU 8 12596667 12596669 deletion of <=200bp GTC - upstream_gene_variant MELA-AU 8 12597698 12597698 single base substitution C T intron_variant MELA-AU 8 12597698 12597698 single base substitution C T upstream_gene_variant MELA-AU 8 12598114 12598114 single base substitution G A intron_variant MELA-AU 8 12598114 12598114 single base substitution G A upstream_gene_variant MELA-AU 8 12598338 12598338 insertion of <=200bp - CCTCTTAGCCCTA intron_variant MELA-AU 8 12598338 12598338 insertion of <=200bp - CCTCTTAGCCCTA upstream_gene_variant MELA-AU 8 12598462 12598462 single base substitution A G 5_prime_UTR_variant MELA-AU 8 12598462 12598462 single base substitution A G exon_variant MELA-AU 8 12598462 12598462 single base substitution A G missense_variant L295S 884T>C MELA-AU 8 12598462 12598462 single base substitution A G upstream_gene_variant MELA-AU 8 12598489 12598489 single base substitution C T 5_prime_UTR_variant MELA-AU 8 12598489 12598489 single base substitution C T exon_variant MELA-AU 8 12598489 12598489 single base substitution C T missense_variant G286E 857G>A MELA-AU 8 12598489 12598489 single base substitution C T upstream_gene_variant MELA-AU 8 12598787 12598787 single base substitution G A intron_variant MELA-AU 8 12598787 12598787 single base substitution G A upstream_gene_variant MELA-AU 8 12598826 12598826 single base substitution G A intron_variant MELA-AU 8 12598826 12598826 single base substitution G A upstream_gene_variant MELA-AU 8 12600280 12600280 single base substitution C T intron_variant MELA-AU 8 12600280 12600280 single base substitution C T upstream_gene_variant MELA-AU 8 12600764 12600764 single base substitution T C 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 8 12600764 12600764 single base substitution T C exon_variant MELA-AU 8 12600764 12600764 single base substitution T C missense_variant Y250C 749A>G MELA-AU 8 12600764 12600764 single base substitution T C upstream_gene_variant MELA-AU 8 12601861 12601861 single base substitution G A intron_variant MELA-AU 8 12601861 12601861 single base substitution G A upstream_gene_variant MELA-AU 8 12602918 12602918 single base substitution G A intron_variant MELA-AU 8 12602918 12602918 single base substitution G A upstream_gene_variant MELA-AU 8 12602931 12602931 single base substitution T C intron_variant MELA-AU 8 12602931 12602931 single base substitution T C upstream_gene_variant MELA-AU 8 12604591 12604591 single base substitution T C intron_variant MELA-AU 8 12604591 12604591 single base substitution T C upstream_gene_variant MELA-AU 8 12604728 12604728 single base substitution G A intron_variant MELA-AU 8 12604728 12604728 single base substitution G A upstream_gene_variant MELA-AU 8 12606011 12606011 single base substitution A G intron_variant MELA-AU 8 12607193 12607193 single base substitution T C intron_variant MELA-AU 8 12608753 12608753 single base substitution A T intron_variant MELA-AU 8 12610400 12610400 insertion of <=200bp - TA intron_variant MELA-AU 8 12610830 12610830 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 8 12610830 12610830 single base substitution G T intron_variant MELA-AU 8 12612483 12612483 single base substitution C T intron_variant MELA-AU 8 12612483 12612483 single base substitution C T synonymous_variant R149R 447G>A MELA-AU 8 12612483 12612483 single base substitution C T upstream_gene_variant MELA-AU 8 12613225 12613225 single base substitution G A intron_variant MELA-AU 8 12613225 12613225 single base substitution G A upstream_gene_variant MELA-AU 8 12613929 12613929 single base substitution C T upstream_gene_variant MELA-AU 8 12615271 12615271 single base substitution G A upstream_gene_variant MELA-AU 8 12615392 12615392 single base substitution T A upstream_gene_variant MELA-AU 8 12615914 12615914 single base substitution G A upstream_gene_variant MELA-AU 8 12616191 12616191 single base substitution G A upstream_gene_variant MELA-AU 8 12617567 12617567 single base substitution A G upstream_gene_variant ORCA-IN 8 12583388 12583388 single base substitution C A downstream_gene_variant ORCA-IN 8 12583388 12583388 single base substitution C A exon_variant ORCA-IN 8 12583388 12583388 single base substitution C A missense_variant V274F 820G>T ORCA-IN 8 12583388 12583388 single base substitution C A missense_variant V314F 940G>T ORCA-IN 8 12583388 12583388 single base substitution C A missense_variant V671F 2011G>T ORCA-IN 8 12583388 12583388 single base substitution C A missense_variant V97F 289G>T ORCA-IN 8 12583388 12583388 single base substitution C A splice_region_variant OV-AU 8 12590255 12590255 single base substitution G C downstream_gene_variant OV-AU 8 12590255 12590255 single base substitution G C intron_variant OV-AU 8 12590255 12590255 single base substitution G C upstream_gene_variant OV-AU 8 12597211 12597211 single base substitution C G intron_variant OV-AU 8 12597211 12597211 single base substitution C G upstream_gene_variant OV-AU 8 12597481 12597481 single base substitution C T intron_variant OV-AU 8 12597481 12597481 single base substitution C T upstream_gene_variant OV-AU 8 12610356 12610356 single base substitution A C intron_variant OV-AU 8 12612170 12612170 single base substitution T G intron_variant OV-AU 8 12612170 12612170 single base substitution T G upstream_gene_variant PACA-AU 8 12574784 12574784 single base substitution G A downstream_gene_variant PACA-AU 8 12584355 12584355 single base substitution T C downstream_gene_variant PACA-AU 8 12584355 12584355 single base substitution T C intron_variant PACA-AU 8 12584355 12584355 single base substitution T C upstream_gene_variant PACA-AU 8 12597099 12597099 single base substitution C T intron_variant PACA-AU 8 12597099 12597099 single base substitution C T upstream_gene_variant PACA-AU 8 12598161 12598161 deletion of <=200bp A - intron_variant PACA-AU 8 12598161 12598161 deletion of <=200bp A - upstream_gene_variant PACA-CA 8 12576106 12576106 single base substitution G A downstream_gene_variant PACA-CA 8 12581514 12581553 deletion of <=200bp GACTTAAAATATAAAGCTTCAGAATGACAAAAGGAGCTAC - intron_variant PACA-CA 8 12589129 12589129 single base substitution C G intron_variant PACA-CA 8 12589129 12589129 single base substitution C G upstream_gene_variant PACA-CA 8 12591921 12591921 insertion of <=200bp - T downstream_gene_variant PACA-CA 8 12591921 12591921 insertion of <=200bp - T intron_variant PACA-CA 8 12605273 12605273 single base substitution T C intron_variant PACA-CA 8 12605273 12605273 single base substitution T C upstream_gene_variant PACA-CA 8 12606311 12606311 single base substitution T C intron_variant PACA-CA 8 12608736 12608736 single base substitution T A intron_variant PACA-CA 8 12615674 12615674 single base substitution G A upstream_gene_variant PAEN-AU 8 12592155 12592155 single base substitution A C downstream_gene_variant PAEN-AU 8 12592155 12592155 single base substitution A C intron_variant PAEN-IT 8 12576169 12576169 single base substitution C T downstream_gene_variant PAEN-IT 8 12578309 12578309 single base substitution T A downstream_gene_variant PAEN-IT 8 12579207 12579207 single base substitution T C downstream_gene_variant PBCA-DE 8 12575050 12575050 deletion of <=200bp G - downstream_gene_variant PBCA-DE 8 12580294 12580295 deletion of <=200bp CA - 3_prime_UTR_variant PBCA-DE 8 12580294 12580295 deletion of <=200bp CA - downstream_gene_variant PBCA-DE 8 12580294 12580295 deletion of <=200bp CA - exon_variant PBCA-DE 8 12594703 12594703 single base substitution C T downstream_gene_variant PBCA-DE 8 12594703 12594703 single base substitution C T intron_variant PBCA-DE 8 12594703 12594703 single base substitution C T upstream_gene_variant PBCA-DE 8 12605001 12605001 single base substitution A G intron_variant PBCA-DE 8 12605001 12605001 single base substitution A G upstream_gene_variant PBCA-DE 8 12611854 12611854 single base substitution G C intron_variant PBCA-DE 8 12611854 12611854 single base substitution G C upstream_gene_variant PBCA-DE 8 12616833 12616833 insertion of <=200bp - G upstream_gene_variant PRAD-CA 8 12592377 12592377 single base substitution T A downstream_gene_variant PRAD-CA 8 12592377 12592377 single base substitution T A intron_variant PRAD-UK 8 12574699 12574699 single base substitution A G downstream_gene_variant PRAD-UK 8 12580320 12580320 single base substitution G C 3_prime_UTR_variant PRAD-UK 8 12580320 12580320 single base substitution G C downstream_gene_variant PRAD-UK 8 12580320 12580320 single base substitution G C exon_variant PRAD-UK 8 12588445 12588445 single base substitution C A intron_variant PRAD-UK 8 12588445 12588445 single base substitution C A upstream_gene_variant PRAD-UK 8 12592054 12592054 single base substitution T G downstream_gene_variant PRAD-UK 8 12592054 12592054 single base substitution T G intron_variant PRAD-UK 8 12594916 12594916 single base substitution T C downstream_gene_variant PRAD-UK 8 12594916 12594916 single base substitution T C intron_variant PRAD-UK 8 12594916 12594916 single base substitution T C upstream_gene_variant PRAD-UK 8 12596509 12596509 single base substitution G A intron_variant PRAD-UK 8 12596509 12596509 single base substitution G A upstream_gene_variant PRAD-UK 8 12610477 12610477 single base substitution G A intron_variant PRAD-UK 8 12617347 12617347 single base substitution G A upstream_gene_variant PRAD-UK 8 12617888 12617888 single base substitution A T upstream_gene_variant PRAD-UK 8 12618185 12618185 single base substitution A C upstream_gene_variant READ-US 8 12586744 12586744 single base substitution G A 3_prime_UTR_variant READ-US 8 12586744 12586744 single base substitution G A exon_variant READ-US 8 12586744 12586744 single base substitution G A stop_gained R199* 595C>T READ-US 8 12586744 12586744 single base substitution G A stop_gained R22* 64C>T READ-US 8 12586744 12586744 single base substitution G A stop_gained R239* 715C>T READ-US 8 12586744 12586744 single base substitution G A stop_gained R596* 1786C>T READ-US 8 12586744 12586744 single base substitution G A upstream_gene_variant RECA-EU 8 12582509 12582509 single base substitution T G downstream_gene_variant RECA-EU 8 12582509 12582509 single base substitution T G intron_variant RECA-EU 8 12587635 12587635 single base substitution G A intron_variant RECA-EU 8 12587635 12587635 single base substitution G A upstream_gene_variant RECA-EU 8 12594733 12594733 single base substitution T A downstream_gene_variant RECA-EU 8 12594733 12594733 single base substitution T A intron_variant RECA-EU 8 12594733 12594733 single base substitution T A upstream_gene_variant RECA-EU 8 12598176 12598176 single base substitution A C intron_variant RECA-EU 8 12598176 12598176 single base substitution A C upstream_gene_variant RECA-EU 8 12600201 12600201 single base substitution T A intron_variant RECA-EU 8 12600201 12600201 single base substitution T A upstream_gene_variant RECA-EU 8 12605967 12605967 single base substitution A G intron_variant RECA-EU 8 12606963 12606963 single base substitution T A intron_variant SKCA-BR 8 12575049 12575050 deletion of <=200bp TG - downstream_gene_variant SKCA-BR 8 12575140 12575140 single base substitution G A downstream_gene_variant SKCA-BR 8 12575209 12575209 single base substitution G T downstream_gene_variant SKCA-BR 8 12577205 12577205 single base substitution T C downstream_gene_variant SKCA-BR 8 12584628 12584628 insertion of <=200bp - CTT downstream_gene_variant SKCA-BR 8 12584628 12584628 insertion of <=200bp - CTT intron_variant SKCA-BR 8 12584628 12584628 insertion of <=200bp - CTT upstream_gene_variant SKCA-BR 8 12586052 12586052 single base substitution A G downstream_gene_variant SKCA-BR 8 12586052 12586052 single base substitution A G intron_variant SKCA-BR 8 12586052 12586052 single base substitution A G upstream_gene_variant SKCA-BR 8 12586377 12586377 single base substitution G A downstream_gene_variant SKCA-BR 8 12586377 12586377 single base substitution G A intron_variant SKCA-BR 8 12586377 12586377 single base substitution G A upstream_gene_variant SKCA-BR 8 12589073 12589073 single base substitution G A intron_variant SKCA-BR 8 12589073 12589073 single base substitution G A upstream_gene_variant SKCA-BR 8 12608803 12608803 insertion of <=200bp - ATGTTTTTTTTTTGTT intron_variant SKCA-BR 8 12610654 12610654 single base substitution G A 5_prime_UTR_variant SKCA-BR 8 12610654 12610654 single base substitution G A intron_variant SKCA-BR 8 12611766 12611766 single base substitution T C 5_prime_UTR_variant SKCA-BR 8 12611766 12611766 single base substitution T C intron_variant SKCA-BR 8 12612814 12612814 single base substitution T C intron_variant SKCA-BR 8 12612814 12612814 single base substitution T C missense_variant E39G 116A>G SKCA-BR 8 12612814 12612814 single base substitution T C upstream_gene_variant SKCA-BR 8 12613445 12613445 single base substitution C T exon_variant SKCA-BR 8 12613445 12613445 single base substitution C T upstream_gene_variant SKCA-BR 8 12616002 12616002 single base substitution G A upstream_gene_variant SKCA-BR 8 12616304 12616330 deletion of <=200bp CTCTCTCTCTCTATATATATATATATA - upstream_gene_variant SKCA-BR 8 12616316 12616316 single base substitution A C upstream_gene_variant SKCA-BR 8 12616320 12616320 single base substitution A C upstream_gene_variant SKCA-BR 8 12616324 12616324 single base substitution A C upstream_gene_variant SKCA-BR 8 12616328 12616328 single base substitution A C upstream_gene_variant SKCA-BR 8 12616330 12616330 single base substitution A C upstream_gene_variant SKCA-BR 8 12617476 12617476 single base substitution C T upstream_gene_variant SKCA-BR 8 12617604 12617604 single base substitution C T upstream_gene_variant SKCM-US 8 12594427 12594427 single base substitution T A 3_prime_UTR_variant SKCM-US 8 12594427 12594427 single base substitution T A downstream_gene_variant SKCM-US 8 12594427 12594427 single base substitution T A stop_gained K446* 1336A>T SKCM-US 8 12594427 12594427 single base substitution T A stop_gained K60* 178A>T SKCM-US 8 12594427 12594427 single base substitution T A stop_gained K89* 265A>T SKCM-US 8 12594427 12594427 single base substitution T A upstream_gene_variant SKCM-US 8 12595517 12595517 single base substitution G A downstream_gene_variant SKCM-US 8 12595517 12595517 single base substitution G A exon_variant SKCM-US 8 12595517 12595517 single base substitution G A missense_variant P10L 29C>T SKCM-US 8 12595517 12595517 single base substitution G A missense_variant P367L 1100C>T SKCM-US 8 12595517 12595517 single base substitution G A upstream_gene_variant SKCM-US 8 12598449 12598449 deletion of <=200bp T - 5_prime_UTR_variant SKCM-US 8 12598449 12598449 deletion of <=200bp T - exon_variant SKCM-US 8 12598449 12598449 deletion of <=200bp T - frameshift_variant L299 SKCM-US 8 12598449 12598449 deletion of <=200bp T - upstream_gene_variant SKCM-US 8 12600729 12600729 single base substitution T C 5_prime_UTR_premature_start_codon_gain_variant SKCM-US 8 12600729 12600729 single base substitution T C exon_variant SKCM-US 8 12600729 12600729 single base substitution T C missense_variant K262E 784A>G SKCM-US 8 12600729 12600729 single base substitution T C upstream_gene_variant SKCM-US 8 12600738 12600738 single base substitution G A 5_prime_UTR_variant SKCM-US 8 12600738 12600738 single base substitution G A exon_variant SKCM-US 8 12600738 12600738 single base substitution G A stop_gained Q259* 775C>T SKCM-US 8 12600738 12600738 single base substitution G A upstream_gene_variant STAD-US 8 12586437 12586437 single base substitution G A 3_prime_UTR_variant STAD-US 8 12586437 12586437 single base substitution G A downstream_gene_variant STAD-US 8 12586437 12586437 single base substitution G A synonymous_variant A264A 792C>T STAD-US 8 12586437 12586437 single base substitution G A synonymous_variant A304A 912C>T STAD-US 8 12586437 12586437 single base substitution G A synonymous_variant A661A 1983C>T STAD-US 8 12586437 12586437 single base substitution G A synonymous_variant A87A 261C>T STAD-US 8 12586437 12586437 single base substitution G A upstream_gene_variant STAD-US 8 12586497 12586497 single base substitution T C 3_prime_UTR_variant STAD-US 8 12586497 12586497 single base substitution T C downstream_gene_variant STAD-US 8 12586497 12586497 single base substitution T C synonymous_variant T244T 732A>G STAD-US 8 12586497 12586497 single base substitution T C synonymous_variant T284T 852A>G STAD-US 8 12586497 12586497 single base substitution T C synonymous_variant T641T 1923A>G STAD-US 8 12586497 12586497 single base substitution T C synonymous_variant T67T 201A>G STAD-US 8 12586497 12586497 single base substitution T C upstream_gene_variant STAD-US 8 12589277 12589277 single base substitution T A 3_prime_UTR_variant STAD-US 8 12589277 12589277 single base substitution T A downstream_gene_variant STAD-US 8 12589277 12589277 single base substitution T A exon_variant STAD-US 8 12589277 12589277 single base substitution T A missense_variant K155N 465A>T STAD-US 8 12589277 12589277 single base substitution T A missense_variant K195N 585A>T STAD-US 8 12589277 12589277 single base substitution T A missense_variant K552N 1656A>T STAD-US 8 12589277 12589277 single base substitution T A upstream_gene_variant STAD-US 8 12594270 12594270 single base substitution T A 3_prime_UTR_variant STAD-US 8 12594270 12594270 single base substitution T A downstream_gene_variant STAD-US 8 12594270 12594270 single base substitution T A missense_variant Y107F 320A>T STAD-US 8 12594270 12594270 single base substitution T A missense_variant Y464F 1391A>T STAD-US 8 12594270 12594270 single base substitution T A missense_variant Y67F 200A>T STAD-US 8 12594270 12594270 single base substitution T A upstream_gene_variant STAD-US 8 12594548 12594548 single base substitution C A 3_prime_UTR_variant STAD-US 8 12594548 12594548 single base substitution C A downstream_gene_variant STAD-US 8 12594548 12594548 single base substitution C A missense_variant E19D 57G>T STAD-US 8 12594548 12594548 single base substitution C A missense_variant E405D 1215G>T STAD-US 8 12594548 12594548 single base substitution C A missense_variant E48D 144G>T STAD-US 8 12594548 12594548 single base substitution C A upstream_gene_variant STAD-US 8 12598381 12598381 single base substitution A T splice_donor_variant STAD-US 8 12598381 12598381 single base substitution A T upstream_gene_variant THCA-SA 8 12612633 12612633 single base substitution G A intron_variant THCA-SA 8 12612633 12612633 single base substitution G A synonymous_variant L99L 297C>T THCA-SA 8 12612633 12612633 single base substitution G A upstream_gene_variant THCA-US 8 12580704 12580704 single base substitution T C 3_prime_UTR_variant THCA-US 8 12580704 12580704 single base substitution T C exon_variant THCA-US 8 12580704 12580704 single base substitution T C synonymous_variant P167P 501A>G THCA-US 8 12580704 12580704 single base substitution T C synonymous_variant P344P 1032A>G THCA-US 8 12580704 12580704 single base substitution T C synonymous_variant P384P 1152A>G THCA-US 8 12580704 12580704 single base substitution T C synonymous_variant P741P 2223A>G THCA-US 8 12594452 12594452 single base substitution C G 3_prime_UTR_variant THCA-US 8 12594452 12594452 single base substitution C G downstream_gene_variant THCA-US 8 12594452 12594452 single base substitution C G synonymous_variant V437V 1311G>C THCA-US 8 12594452 12594452 single base substitution C G synonymous_variant V51V 153G>C THCA-US 8 12594452 12594452 single base substitution C G synonymous_variant V80V 240G>C THCA-US 8 12594452 12594452 single base substitution C G upstream_gene_variant UCEC-US 8 12580661 12580661 single base substitution G T 3_prime_UTR_variant UCEC-US 8 12580661 12580661 single base substitution G T exon_variant UCEC-US 8 12580661 12580661 single base substitution G T synonymous_variant R182R 544C>A UCEC-US 8 12580661 12580661 single base substitution G T synonymous_variant R359R 1075C>A UCEC-US 8 12580661 12580661 single base substitution G T synonymous_variant R399R 1195C>A UCEC-US 8 12580661 12580661 single base substitution G T synonymous_variant R756R 2266C>A UCEC-US 8 12580702 12580702 single base substitution C T 3_prime_UTR_variant UCEC-US 8 12580702 12580702 single base substitution C T exon_variant UCEC-US 8 12580702 12580702 single base substitution C T missense_variant R168Q 503G>A UCEC-US 8 12580702 12580702 single base substitution C T missense_variant R345Q 1034G>A UCEC-US 8 12580702 12580702 single base substitution C T missense_variant R385Q 1154G>A UCEC-US 8 12580702 12580702 single base substitution C T missense_variant R742Q 2225G>A UCEC-US 8 12586535 12586535 single base substitution C T 3_prime_UTR_variant UCEC-US 8 12586535 12586535 single base substitution C T downstream_gene_variant UCEC-US 8 12586535 12586535 single base substitution C T missense_variant V232M 694G>A UCEC-US 8 12586535 12586535 single base substitution C T missense_variant V272M 814G>A UCEC-US 8 12586535 12586535 single base substitution C T missense_variant V55M 163G>A UCEC-US 8 12586535 12586535 single base substitution C T missense_variant V629M 1885G>A UCEC-US 8 12586535 12586535 single base substitution C T upstream_gene_variant UCEC-US 8 12586561 12586561 single base substitution T C 3_prime_UTR_variant UCEC-US 8 12586561 12586561 single base substitution T C downstream_gene_variant UCEC-US 8 12586561 12586561 single base substitution T C missense_variant Y223C 668A>G UCEC-US 8 12586561 12586561 single base substitution T C missense_variant Y263C 788A>G UCEC-US 8 12586561 12586561 single base substitution T C missense_variant Y46C 137A>G UCEC-US 8 12586561 12586561 single base substitution T C missense_variant Y620C 1859A>G UCEC-US 8 12586561 12586561 single base substitution T C upstream_gene_variant UCEC-US 8 12586681 12586681 single base substitution A G downstream_gene_variant UCEC-US 8 12586681 12586681 single base substitution A G splice_donor_variant UCEC-US 8 12586681 12586681 single base substitution A G upstream_gene_variant UCEC-US 8 12592793 12592793 single base substitution A G downstream_gene_variant UCEC-US 8 12592793 12592793 single base substitution A G splice_donor_variant UCEC-US 8 12592878 12592878 single base substitution C T 3_prime_UTR_variant UCEC-US 8 12592878 12592878 single base substitution C T downstream_gene_variant UCEC-US 8 12592878 12592878 single base substitution C T exon_variant UCEC-US 8 12592878 12592878 single base substitution C T missense_variant G138R 412G>A UCEC-US 8 12592878 12592878 single base substitution C T missense_variant G495R 1483G>A UCEC-US 8 12592878 12592878 single base substitution C T missense_variant G98R 292G>A UCEC-US 8 12594230 12594230 single base substitution G A 3_prime_UTR_variant UCEC-US 8 12594230 12594230 single base substitution G A downstream_gene_variant UCEC-US 8 12594230 12594230 single base substitution G A synonymous_variant F120F 360C>T UCEC-US 8 12594230 12594230 single base substitution G A synonymous_variant F477F 1431C>T UCEC-US 8 12594230 12594230 single base substitution G A synonymous_variant F80F 240C>T UCEC-US 8 12594230 12594230 single base substitution G A upstream_gene_variant UCEC-US 8 12594517 12594517 single base substitution C T 3_prime_UTR_variant UCEC-US 8 12594517 12594517 single base substitution C T downstream_gene_variant UCEC-US 8 12594517 12594517 single base substitution C T missense_variant V30I 88G>A UCEC-US 8 12594517 12594517 single base substitution C T missense_variant V416I 1246G>A UCEC-US 8 12594517 12594517 single base substitution C T missense_variant V59I 175G>A UCEC-US 8 12594517 12594517 single base substitution C T upstream_gene_variant UCEC-US 8 12600699 12600699 single base substitution G T 5_prime_UTR_variant UCEC-US 8 12600699 12600699 single base substitution G T exon_variant UCEC-US 8 12600699 12600699 single base substitution G T missense_variant L272I 814C>A UCEC-US 8 12600699 12600699 single base substitution G T upstream_gene_variant UCEC-US 8 12600704 12600704 single base substitution G A 5_prime_UTR_variant UCEC-US 8 12600704 12600704 single base substitution G A exon_variant UCEC-US 8 12600704 12600704 single base substitution G A missense_variant A270V 809C>T UCEC-US 8 12600704 12600704 single base substitution G A upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-IR-A3LI-01 COSM4846138 c.1431C>A p.F477L Substitution - Missense 8:12736721-12736721 - sysucc-325T COSM5461308 c.1898C>T p.P633L Substitution - Missense 8:12729013-12729013 - TCGA-FP-A4BE-01 COSM3896657 c.1656A>T p.K552N Substitution - Missense 8:12731768-12731768 - PTC-7C COSM4162661 c.2075G>T p.C692F Substitution - Missense 8:12725815-12725815 - B80-3 COSM1755563 c.1408G>C p.E470Q Substitution - Missense 8:12736744-12736744 - TCGA-BR-6852-01 COSM3896659 c.1215G>T p.E405D Substitution - Missense 8:12737039-12737039 - TCGA-AP-A0LM-01 COSM1095916 c.2225G>A p.R742Q Substitution - Missense 8:12723193-12723193 - TCGA-EI-6917-01 COSM1673765 c.1786C>T p.R596* Substitution - Nonsense 8:12729235-12729235 - CSCC-7-T COSM4530414 c.1698G>C p.K566N Substitution - Missense 8:12729323-12729323 - T30 COSM5345498 c.2131G>A p.G711R Substitution - Missense 8:12725759-12725759 - T55 COSM4698373 c.1118A>G p.E373G Substitution - Missense 8:12737136-12737136 - sysucc-1270T COSM5766162 c.264C>T p.A88A Substitution - coding silent 8:12755157-12755157 - PT37 COSM4635570 c.1382C>T p.S461F Substitution - Missense 8:12736770-12736770 - HX12T COSM1623588 c.1417G>T p.D473Y Substitution - Missense 8:12736735-12736735 - DLD1 COSM3316455 c.2071G>T p.A691S Substitution - Missense 8:12725819-12725819 - TCGA-RP-A694-06 COSM4894504 c.784A>G p.K262E Substitution - Missense 8:12743220-12743220 - ESCC_BICR_004T COSM5431494 c.1216G>T p.D406Y Substitution - Missense 8:12737038-12737038 - TCGA-FD-A3SN-01 COSM3778893 c.2143G>A p.E715K Substitution - Missense 8:12725747-12725747 - TCGA-A5-A0GI-01 COSM1095919 c.1847+2T>C p.? Unknown 8:12729172-12729172 - TCGA-B6-A0IJ-01 COSM453989 c.1358C>T p.T453I Substitution - Missense 8:12736794-12736794 - 169 COSM3722375 c.1750C>G p.L584V Substitution - Missense 8:12729271-12729271 - HCC2998 COSM1673765 c.1786C>T p.R596* Substitution - Nonsense 8:12729235-12729235 - TCGA-AP-A051-01 COSM1095939 c.809C>T p.A270V Substitution - Missense 8:12743195-12743195 - SM-4B296 COSM4410327 c.1452-6T>C p.? Unknown 8:12735406-12735406 - CSCC-54-T COSM4563748 c.988G>A p.E330K Substitution - Missense 8:12738120-12738120 - pfg068T COSM4750097 c.2153A>G p.E718G Substitution - Missense 8:12725737-12725737 - PTC_288 COSM5958081 c.297C>T p.L99L Substitution - coding silent 8:12755124-12755124 - TCGA-AZ-4315-01 COSM1454764 c.1698G>A p.K566K Substitution - coding silent 8:12729323-12729323 - TCGA-AB-2906-03 COSM166647 c.2067T>C p.S689S Substitution - coding silent 8:12725823-12725823 - TCGA-FG-6691-01 COSM3929375 c.1043A>G p.K348R Substitution - Missense 8:12738065-12738065 - EW8 COSM4587766 c.1893C>T p.F631F Substitution - coding silent 8:12729018-12729018 - 1604875 COSM141225 c.814C>T p.L272F Substitution - Missense 8:12743190-12743190 - TCGA-AX-A0J1-01 COSM1095917 c.1885G>A p.V629M Substitution - Missense 8:12729026-12729026 - I2L-P19Ta-Tumor-Organoid COSM4698374 c.884delT p.L295fs*1 Deletion - Frameshift 8:12740953-12740953 - T3202 COSM4698374 c.884delT p.L295fs*1 Deletion - Frameshift 8:12740953-12740953 - EW8 COSM4587767 c.1428T>C p.D476D Substitution - coding silent 8:12736724-12736724 - TCGA-EK-A2IP-01 COSM4822417 c.1449G>C p.M483I Substitution - Missense 8:12736703-12736703 - ESCC_142 COSM5643845 c.1576G>C p.D526H Substitution - Missense 8:12731848-12731848 - Au5 COSM5605838 c.1432G>A p.E478K Substitution - Missense 8:12736720-12736720 - HN_00076 COSM124131 c.2026G>A p.E676K Substitution - Missense 8:12725864-12725864 - TCGA-BR-A4QL-01 COSM3896658 c.1391A>T p.Y464F Substitution - Missense 8:12736761-12736761 - TCGA-CW-5588-01 COSM486063 c.1760T>G p.F587C Substitution - Missense 8:12729261-12729261 - CSCC-4-T COSM4569389 c.1722T>A p.T574T Substitution - coding silent 8:12729299-12729299 - TCGA-BR-8485-01 COSM3896656 c.1923A>G p.T641T Substitution - coding silent 8:12728988-12728988 - TARGET-30-PARMLF COSM1285954 c.2121T>C p.L707L Substitution - coding silent 8:12725769-12725769 - sysucc-723T COSM5764005 c.141C>G p.R47R Substitution - coding silent 8:12755280-12755280 - TCGA-C5-A2LS-01 COSM4856183 c.1158C>A p.S386R Substitution - Missense 8:12737096-12737096 - 8 COSM4166927 c.2266C>T p.R756W Substitution - Missense 8:12723152-12723152 - TCGA-AX-A05Z-01 COSM1095938 c.814C>A p.L272I Substitution - Missense 8:12743190-12743190 - LOVO COSM3316476 c.871G>A p.D291N Substitution - Missense 8:12740966-12740966 - TCGA-AU-6004-01 COSM1095917 c.1885G>A p.V629M Substitution - Missense 8:12729026-12729026 - HCT15 COSM3316455 c.2071G>T p.A691S Substitution - Missense 8:12725819-12725819 - TCGA-BH-A0W7-01 COSM453988 c.1834G>A p.D612N Substitution - Missense 8:12729187-12729187 - PT36 COSM5915793 c.1063C>T p.H355Y Substitution - Missense 8:12738045-12738045 - B80-3-Tumor COSM1755563 c.1408G>C p.E470Q Substitution - Missense 8:12736744-12736744 - SNUH_G10_S1 COSM3982387 c.1114-10A>G p.? Unknown 8:12737150-12737150 - TCGA-66-2785-01 COSM749433 c.2068C>T p.Q690* Substitution - Nonsense 8:12725822-12725822 - HCC2998 COSM1673765 c.1786C>T p.R596* Substitution - Nonsense 8:12729235-12729235 - TCGA-A6-6780-01 COSM1095921 c.1483G>A p.G495R Substitution - Missense 8:12735369-12735369 - TCGA-AP-A059-01 COSM1095921 c.1483G>A p.G495R Substitution - Missense 8:12735369-12735369 - I2L-P14b-Tumor-Biopsy COSM1095921 c.1483G>A p.G495R Substitution - Missense 8:12735369-12735369 - TCGA-61-2008-01 COSM71451 c.2311C>A p.Q771K Substitution - Missense 8:12723107-12723107 - EW8 COSM4587768 c.851G>T p.R284M Substitution - Missense 8:12740986-12740986 - T3174 COSM4698372 c.1827T>C p.C609C Substitution - coding silent 8:12729194-12729194 - 24T COSM3715944 c.2011G>T p.V671F Substitution - Missense 8:12725879-12725879 - TCGA-D3-A3C7-06 COSM3644956 c.1336A>T p.K446* Substitution - Nonsense 8:12736918-12736918 - HCT8 COSM4635570 c.1382C>T p.S461F Substitution - Missense 8:12736770-12736770 - LC_S19 COSM1187495 c.1937G>T p.R646L Substitution - Missense 8:12728974-12728974 - TCGA-ER-A19F-06 COSM3644967 c.775C>T p.Q259* Substitution - Nonsense 8:12743229-12743229 - TCGA-CG-4306-01 COSM3316457 c.1983C>T p.A661A Substitution - coding silent 8:12728928-12728928 - TCGA-AP-A054-01 COSM1095920 c.1566+2T>C p.? Unknown 8:12735284-12735284 - AML49 COSM166647 c.2067T>C p.S689S Substitution - coding silent 8:12725823-12725823 - TCGA-BS-A0UV-01 COSM261801 c.1431C>T p.F477F Substitution - coding silent 8:12736721-12736721 - HCT116 COSM3316458 c.1932A>G p.G644G Substitution - coding silent 8:12728979-12728979 - TCGA-BR-6452-01 COSM3896660 c.963+2T>A p.? Unknown 8:12740872-12740872 - T155 COSM1176700 c.1294C>A p.L432I Substitution - Missense 8:12736960-12736960 - TCGA-AG-A002-01 COSM261800 c.1910C>T p.S637F Substitution - Missense 8:12729001-12729001 - 40M COSM5585663 c.2130C>T p.F710F Substitution - coding silent 8:12725760-12725760 - TCGA-AG-A002-01 COSM261801 c.1431C>T p.F477F Substitution - coding silent 8:12736721-12736721 - TCGA-A8-A09G-01 COSM453990 c.901C>T p.L301F Substitution - Missense 8:12740936-12740936 - AB COSM5414774 c.2122C>T p.Q708* Substitution - Nonsense 8:12725768-12725768 - T3225 COSM4698371 c.1902C>T p.D634D Substitution - coding silent 8:12729009-12729009 - NB-1931 COSM1285953 c.1405G>C p.E469Q Substitution - Missense 8:12736747-12736747 - HT115 COSM1673765 c.1786C>T p.R596* Substitution - Nonsense 8:12729235-12729235 - TCGA-D5-6536-01 COSM1454763 c.1840C>G p.Q614E Substitution - Missense 8:12729181-12729181 - EGC15 COSM5062876 c.1491G>A p.S497S Substitution - coding silent 8:12735361-12735361 - TCGA-D3-A51T-06 COSM3644957 c.1100C>T p.P367L Substitution - Missense 8:12738008-12738008 - TCGA-AK-3430-01 COSM486064 c.1501A>C p.N501H Substitution - Missense 8:12735351-12735351 - TCGA-AP-A054-01 COSM1095918 c.1859A>G p.Y620C Substitution - Missense 8:12729052-12729052 - TCGA-A5-A0GH-01 COSM1095922 c.1246G>A p.V416I Substitution - Missense 8:12737008-12737008 - TCGA-FI-A2F8-01 COSM1095915 c.2266C>A p.R756R Substitution - coding silent 8:12723152-12723152 - TCGA-EL-A3H5-01 COSM3374765 c.2223A>G p.P741P Substitution - coding silent 8:12723195-12723195 - OSCC-GB_00240111 COSM3715944 c.2011G>T p.V671F Substitution - Missense 8:12725879-12725879 - PT51 COSM5938214 c.1490C>T p.S497L Substitution - Missense 8:12735362-12735362 - TCGA-BP-5198-01 COSM486065 c.894C>T p.A298A Substitution - coding silent 8:12740943-12740943 - 230 COSM3730352 c.2137A>T p.M713L Substitution - Missense 8:12725753-12725753 - HCT8 COSM3316455 c.2071G>T p.A691S Substitution - Missense 8:12725819-12725819 - TCGA-ES-A2HT-01 COSM4938625 c.1926T>C p.V642V Substitution - coding silent 8:12728985-12728985 - TCGA-ET-A2MY-01 COSM3374766 c.1311G>C p.V437V Substitution - coding silent 8:12736943-12736943 - WT025 COSM5062876 c.1491G>A p.S497S Substitution - coding silent 8:12735361-12735361 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.180171;Hs.180178 8p23.1

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C IntronicSNV . c.721+1163T>G 8 12611046 HC A C Missense p.F587C c.1760T>G 8 12586770 RCCC A G SpliceDonorSNV . c.1566+2T>C 8 12592793 UCEC A G SpliceDonorSNV . c.1847+2T>C 8 12586681 UCEC A G Synonymous p.L707L c.2121T>C 8 12583278 NB A G Synonymous p.S689S c.2067T>C 8 12583332 AML A T Synonymous p.V687V c.2061T>A 8 12583338 HNSC C A Missense p.E405D c.1215G>T 8 12594548 STAD C A Missense p.V586L c.1756G>T 8 12586774 STAD C G Missense p.E469Q c.1405G>C 8 12594256 NB C G Synonymous p.V437V c.1311G>C 8 12594452 THCA C T Missense p.D612N c.1834G>A 8 12586696 BRCA C T Missense p.E360K c.1078G>A 8 12595539 CM C T Missense p.E676K c.2026G>A 8 12583373 HNSC C T Missense p.V416I c.1246G>A 8 12594517 UCEC G A IntronicSNV . c.2011-84C>T 8 12583472 CM G A Missense p.T453I c.1358C>T 8 12594303 BRCA G A Nonsense p.Q259* c.775C>T 8 12600738 CM G A Synonymous p.A661A c.1983C>T 8 12586437 STAD G C Missense p.L584V c.1750C>G 8 12586780 HNSC G T Missense p.Q771K c.2311C>A 8 12580616 OV G T Synonymous p.R756R c.2266C>A 8 12580661 UCEC T A Missense p.R444S c.1332A>T 8 12594431 HNSC T A Nonsense p.K446* c.1336A>T 8 12594427 CM T C Missense p.K348R c.1043A>G 8 12595574 LGG T C Missense p.M575V c.1723A>G 8 12586807 LUAD T C Missense p.Q320R c.959A>G 8 12598387 HNSC T C Missense p.S611G c.1831A>G 8 12586699 COREAD T C Missense p.Y620C c.1859A>G 8 12586561 UCEC T C Synonymous p.P741P c.2223A>G 8 12580704 THCA T - Frameshift p.L299Ffs*8 c.897delA 8 12598449 CM T G Missense p.K670T c.2009A>C 8 12586411 HNSC T G Missense p.N501H c.1501A>C 8 12592860 RCCC