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 6 99956553 99956553 + Missense_Mutation SNP C C A TCGA-OR-A5JA-01A-11D-A29I-10 TCGA-OR-A5JA-10A-01D-A29L-10 g.chr6:99956553C>A c.206G>T c.(205-207)aGa>aTa p.R69I BLCA 6 99885183 99885183 + Silent SNP C C G TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 g.chr6:99885183C>G c.2253G>C c.(2251-2253)gtG>gtC p.V751V BLCA 6 99885210 99885210 + Missense_Mutation SNP C C G TCGA-FD-A6TC-01A-21D-A339-08 TCGA-FD-A6TC-10A-21D-A339-08 g.chr6:99885210C>G c.2226G>C c.(2224-2226)atG>atC p.M742I BLCA 6 99894186 99894186 + Missense_Mutation SNP C C T TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 g.chr6:99894186C>T c.1462G>A c.(1462-1464)Gat>Aat p.D488N BLCA 6 99894213 99894213 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 g.chr6:99894213C>T c.1435G>A c.(1435-1437)Gag>Aag p.E479K BLCA 6 99936646 99936646 + Missense_Mutation SNP C C T TCGA-E7-A7XN-01A-11D-A34U-08 TCGA-E7-A7XN-10A-01D-A34X-08 g.chr6:99936646C>T c.529G>A c.(529-531)Gaa>Aaa p.E177K BRCA 6 99885230 99885230 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 g.chr6:99885230C>G c.2206G>C c.(2206-2208)Gtg>Ctg p.V736L BRCA 6 99885238 99885238 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 g.chr6:99885238T>C c.2198A>G c.(2197-2199)tAt>tGt p.Y733C BRCA 6 99887703 99887703 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 g.chr6:99887703C>T c.2102G>A c.(2101-2103)aGa>aAa p.R701K BRCA 6 99887726 99887726 + Silent SNP G G C TCGA-A8-A09D-01A-11W-A019-09 TCGA-A8-A09D-10A-01W-A021-09 g.chr6:99887726G>C c.2079C>G c.(2077-2079)ggC>ggG p.G693G BRCA 6 99924030 99924030 + Frame_Shift_Del DEL C C - TCGA-E2-A2P6-01A-11D-A19Y-09 TCGA-E2-A2P6-10B-01D-A19Y-09 g.chr6:99924030delC c.922delG c.(922-924)gaafs p.E309fs BRCA 6 99936136 99936136 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 g.chr6:99936136C>T c.654G>A c.(652-654)atG>atA p.M218I BRCA 6 99936655 99936655 + Missense_Mutation SNP C C T TCGA-BH-A18J-01A-11D-A12B-09 TCGA-BH-A18J-11A-31D-A12B-09 g.chr6:99936655C>T c.520G>A c.(520-522)Gaa>Aaa p.E174K BRCA 6 99956518 99956518 + Missense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 g.chr6:99956518C>G c.241G>C c.(241-243)Gat>Cat p.D81H CESC 6 99893792 99893792 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 g.chr6:99893792G>A c.1856C>T c.(1855-1857)tCa>tTa p.S619L COAD 6 99887716 99887716 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr6:99887716G>A c.2089C>T c.(2089-2091)Cgt>Tgt p.R697C COAD 6 99893708 99893708 + Frame_Shift_Del DEL T T - TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr6:99893708delT c.1940delA c.(1939-1941)aacfs p.N647fs COAD 6 99893879 99893879 + Frame_Shift_Del DEL A A - TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr6:99893879delA c.1769delT c.(1768-1770)ttafs p.L590fs COAD 6 99893889 99893889 + Missense_Mutation SNP A A C TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr6:99893889A>C c.1759T>G c.(1759-1761)Tta>Gta p.L587V COAD 6 99894051 99894051 + Missense_Mutation SNP G G A TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr6:99894051G>A c.1597C>T c.(1597-1599)Ccc>Tcc p.P533S COAD 6 99894073 99894073 + Silent SNP T T C TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr6:99894073T>C c.1575A>G c.(1573-1575)ggA>ggG p.G525G COAD 6 99894073 99894073 + Silent SNP T T C TCGA-F4-6460-01A-11D-1771-10 TCGA-F4-6460-10B-01D-1771-10 g.chr6:99894073T>C c.1575A>G c.(1573-1575)ggA>ggG p.G525G COAD 6 99894094 99894094 + Silent SNP C C T TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr6:99894094C>T c.1554G>A c.(1552-1554)ggG>ggA p.G518G COAD 6 99914576 99914576 + Missense_Mutation SNP C C A TCGA-A6-2683-01A-01W-0831-10 TCGA-A6-2683-10A-01W-0831-10 g.chr6:99914576C>A c.1079G>T c.(1078-1080)aGc>aTc p.S360I COAD 6 99916432 99916432 + Silent SNP T T C TCGA-CK-6751-01A-11D-1835-10 TCGA-CK-6751-10A-01D-1835-10 g.chr6:99916432T>C c.996A>G c.(994-996)gaA>gaG p.E332E COAD 6 99930673 99930673 + Frame_Shift_Del DEL T T - TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr6:99930673delT c.801delA c.(799-801)aaafs p.K267fs COAD 6 99936601 99936601 + Missense_Mutation SNP T T A TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr6:99936601T>A c.574A>T c.(574-576)Att>Ttt p.I192F COAD 6 99936603 99936603 + Missense_Mutation SNP C C T TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr6:99936603C>T c.572G>A c.(571-573)gGa>gAa p.G191E COAD 6 99936616 99936616 + Missense_Mutation SNP A A C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr6:99936616A>C c.559T>G c.(559-561)Tta>Gta p.L187V COADREAD 6 99887716 99887716 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr6:99887716G>A c.2089C>T c.(2089-2091)Cgt>Tgt p.R697C COADREAD 6 99891446 99891446 + Missense_Mutation SNP G G T TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr6:99891446G>T c.2068C>A c.(2068-2070)Cat>Aat p.H690N COADREAD 6 99893708 99893708 + Frame_Shift_Del DEL T T - TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr6:99893708delT c.1940delA c.(1939-1941)aacfs p.N647fs COADREAD 6 99893879 99893879 + Frame_Shift_Del DEL A A - TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr6:99893879delA c.1769delT c.(1768-1770)ttafs p.L590fs COADREAD 6 99893889 99893889 + Missense_Mutation SNP A A C TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr6:99893889A>C c.1759T>G c.(1759-1761)Tta>Gta p.L587V COADREAD 6 99894051 99894051 + Missense_Mutation SNP G G A TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr6:99894051G>A c.1597C>T c.(1597-1599)Ccc>Tcc p.P533S COADREAD 6 99894073 99894073 + Silent SNP T T C TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr6:99894073T>C c.1575A>G c.(1573-1575)ggA>ggG p.G525G COADREAD 6 99894073 99894073 + Silent SNP T T C TCGA-F4-6460-01A-11D-1771-10 TCGA-F4-6460-10B-01D-1771-10 g.chr6:99894073T>C c.1575A>G c.(1573-1575)ggA>ggG p.G525G COADREAD 6 99894094 99894094 + Silent SNP C C T TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr6:99894094C>T c.1554G>A c.(1552-1554)ggG>ggA p.G518G COADREAD 6 99894322 99894322 + Silent SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr6:99894322G>A c.1326C>T c.(1324-1326)gaC>gaT p.D442D COADREAD 6 99914576 99914576 + Missense_Mutation SNP C C A TCGA-A6-2683-01A-01W-0831-10 TCGA-A6-2683-10A-01W-0831-10 g.chr6:99914576C>A c.1079G>T c.(1078-1080)aGc>aTc p.S360I COADREAD 6 99916432 99916432 + Silent SNP T T C TCGA-CK-6751-01A-11D-1835-10 TCGA-CK-6751-10A-01D-1835-10 g.chr6:99916432T>C c.996A>G c.(994-996)gaA>gaG p.E332E COADREAD 6 99930673 99930673 + Frame_Shift_Del DEL T T - TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr6:99930673delT c.801delA c.(799-801)aaafs p.K267fs COADREAD 6 99936601 99936601 + Missense_Mutation SNP T T A TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr6:99936601T>A c.574A>T c.(574-576)Att>Ttt p.I192F COADREAD 6 99936603 99936603 + Missense_Mutation SNP C C T TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr6:99936603C>T c.572G>A c.(571-573)gGa>gAa p.G191E COADREAD 6 99936616 99936616 + Missense_Mutation SNP A A C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr6:99936616A>C c.559T>G c.(559-561)Tta>Gta p.L187V ESCA 6 99894129 99894129 + Missense_Mutation SNP G G A TCGA-LN-A4A9-01A-11D-A28B-09 TCGA-LN-A4A9-10A-01D-A28E-09 g.chr6:99894129G>A c.1519C>T c.(1519-1521)Cct>Tct p.P507S ESCA 6 99936085 99936085 + Silent SNP G G A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 g.chr6:99936085G>A c.705C>T c.(703-705)gaC>gaT p.D235D HNSC 6 99883592 99883592 + Silent SNP T T C TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 g.chr6:99883592T>C c.2445A>G c.(2443-2445)taA>taG p.*815* HNSC 6 99894132 99894132 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 g.chr6:99894132C>T c.1516G>A c.(1516-1518)Gag>Aag p.E506K HNSC 6 99894228 99894228 + Missense_Mutation SNP T T C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 g.chr6:99894228T>C c.1420A>G c.(1420-1422)Agc>Ggc p.S474G HNSC 6 99912603 99912603 + Missense_Mutation SNP C C G TCGA-KU-A66S-01A-21D-A30E-08 TCGA-KU-A66S-10A-01D-A30H-08 g.chr6:99912603C>G c.1185G>C c.(1183-1185)tgG>tgC p.W395C KICH 6 99930673 99930673 + Silent SNP T T C TCGA-KL-8342-01A-11D-2310-10 TCGA-KL-8342-11A-01D-2310-10 g.chr6:99930673T>C c.801A>G c.(799-801)aaA>aaG p.K267K KIPAN 6 99894085 99894085 + Silent SNP T T C TCGA-KV-A6GE-01A-11D-A31X-10 TCGA-KV-A6GE-10A-01D-A31X-10 g.chr6:99894085T>C c.1563A>G c.(1561-1563)agA>agG p.R521R KIPAN 6 99912577 99912577 + Frame_Shift_Del DEL A A - TCGA-B0-5701-01A-11D-1534-10 TCGA-B0-5701-11A-01D-1534-10 g.chr6:99912577delA c.1211delT c.(1210-1212)ttafs p.L404fs KIPAN 6 99924089 99924089 + Missense_Mutation SNP T T C TCGA-B0-4691-01A-01D-1361-10 TCGA-B0-4691-11A-01D-1361-10 g.chr6:99924089T>C c.863A>G c.(862-864)gAt>gGt p.D288G KIPAN 6 99930673 99930673 + Silent SNP T T C TCGA-KL-8342-01A-11D-2310-10 TCGA-KL-8342-11A-01D-2310-10 g.chr6:99930673T>C c.801A>G c.(799-801)aaA>aaG p.K267K KIPAN 6 99930682 99930682 + Missense_Mutation SNP C C A TCGA-BQ-5891-01A-11D-1589-08 TCGA-BQ-5891-11A-01D-1589-08 g.chr6:99930682C>A c.792G>T c.(790-792)gaG>gaT p.E264D KIRC 6 99912577 99912577 + Frame_Shift_Del DEL A A - TCGA-B0-5701-01A-11D-1534-10 TCGA-B0-5701-11A-01D-1534-10 g.chr6:99912577delA c.1211delT c.(1210-1212)ttafs p.L404fs KIRC 6 99924089 99924089 + Missense_Mutation SNP T T C TCGA-B0-4691-01A-01D-1361-10 TCGA-B0-4691-11A-01D-1361-10 g.chr6:99924089T>C c.863A>G c.(862-864)gAt>gGt p.D288G KIRP 6 99894085 99894085 + Silent SNP T T C TCGA-KV-A6GE-01A-11D-A31X-10 TCGA-KV-A6GE-10A-01D-A31X-10 g.chr6:99894085T>C c.1563A>G c.(1561-1563)agA>agG p.R521R KIRP 6 99930682 99930682 + Missense_Mutation SNP C C A TCGA-BQ-5891-01A-11D-1589-08 TCGA-BQ-5891-11A-01D-1589-08 g.chr6:99930682C>A c.792G>T c.(790-792)gaG>gaT p.E264D LIHC 6 99883624 99883624 + Missense_Mutation SNP C C T TCGA-DD-AACA-01A-11D-A40R-10 TCGA-DD-AACA-10A-01D-A40U-10 g.chr6:99883624C>T c.2413G>A c.(2413-2415)Gcc>Acc p.A805T LIHC 6 99885203 99885203 + Missense_Mutation SNP C C G TCGA-DD-AADM-01A-11D-A40R-10 TCGA-DD-AADM-10A-01D-A40U-10 g.chr6:99885203C>G c.2233G>C c.(2233-2235)Ggc>Cgc p.G745R LUAD 6 99893964 99893964 + Missense_Mutation SNP G G C TCGA-53-A4EZ-01A-12D-A24P-08 TCGA-53-A4EZ-10A-01D-A24P-08 g.chr6:99893964G>C c.1684C>G c.(1684-1686)Ctt>Gtt p.L562V LUAD 6 99894011 99894011 + Frame_Shift_Del DEL T T - TCGA-80-5611-01A-01D-1625-08 TCGA-80-5611-10A-01D-1625-08 g.chr6:99894011delT c.1637delA c.(1636-1638)aagfs p.K546fs LUAD 6 99930642 99930642 + Missense_Mutation SNP G G C TCGA-83-5908-01A-21D-2284-08 TCGA-83-5908-10A-01D-2284-08 g.chr6:99930642G>C c.832C>G c.(832-834)Cag>Gag p.Q278E LUAD 6 99958050 99958050 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 g.chr6:99958050C>A c.47G>T c.(46-48)aGa>aTa p.R16I LUSC 6 99951668 99951668 + Missense_Mutation SNP G G T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 g.chr6:99951668G>T c.451C>A c.(451-453)Cag>Aag p.Q151K OV 6 99894075 99894075 + Nonsense_Mutation SNP C C A TCGA-24-1474-01A-01W-0551-08 TCGA-24-1474-10A-01W-0551-08 g.chr6:99894075C>A c.1573G>T c.(1573-1575)Gga>Tga p.G525* PAAD 6 99883713 99883713 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr6:99883713G>A c.2324C>T c.(2323-2325)gCg>gTg p.A775V PAAD 6 99893884 99893884 + Silent SNP A A G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr6:99893884A>G c.1764T>C c.(1762-1764)tgT>tgC p.C588C PRAD 6 99885247 99885247 + Missense_Mutation SNP T T C TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 g.chr6:99885247T>C c.2189A>G c.(2188-2190)tAc>tGc p.Y730C PRAD 6 99936563 99936563 + Silent SNP G G C TCGA-J4-A83L-01A-11D-A34U-08 TCGA-J4-A83L-10A-01D-A34X-08 g.chr6:99936563G>C c.612C>G c.(610-612)gtC>gtG p.V204V PRAD 6 99955361 99955361 + Missense_Mutation SNP T T C TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 g.chr6:99955361T>C c.320A>G c.(319-321)aAg>aGg p.K107R READ 6 99891446 99891446 + Missense_Mutation SNP G G T TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr6:99891446G>T c.2068C>A c.(2068-2070)Cat>Aat p.H690N READ 6 99894322 99894322 + Silent SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr6:99894322G>A c.1326C>T c.(1324-1326)gaC>gaT p.D442D SARC 6 99894289 99894289 + Missense_Mutation SNP T T A TCGA-DX-A8BO-01A-11D-A417-09 TCGA-DX-A8BO-10B-01D-A41A-09 g.chr6:99894289T>A c.1359A>T c.(1357-1359)gaA>gaT p.E453D SKCM 6 99883615 99883615 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 g.chr6:99883615G>A c.2422C>T c.(2422-2424)Ctt>Ttt p.L808F SKCM 6 99885165 99885165 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr6:99885165G>A c.2271C>T c.(2269-2271)tcC>tcT p.S757S SKCM 6 99893858 99893858 + Missense_Mutation SNP G G C TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 g.chr6:99893858G>C c.1790C>G c.(1789-1791)tCt>tGt p.S597C SKCM 6 99894074 99894074 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 g.chr6:99894074C>T c.1574G>A c.(1573-1575)gGa>gAa p.G525E SKCM 6 99894322 99894322 + Silent SNP G G A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr6:99894322G>A c.1326C>T c.(1324-1326)gaC>gaT p.D442D SKCM 6 99958081 99958081 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 g.chr6:99958081G>A c.16C>T c.(16-18)Cca>Tca p.P6S

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 6 99893724 99893724 single base substitution C T 3_prime_UTR_variant BLCA-CN 6 99893724 99893724 single base substitution C T downstream_gene_variant BLCA-CN 6 99893724 99893724 single base substitution C T intron_variant BLCA-CN 6 99893724 99893724 single base substitution C T missense_variant E322K 964G>A BLCA-CN 6 99893724 99893724 single base substitution C T missense_variant E594K 1780G>A BLCA-CN 6 99893724 99893724 single base substitution C T missense_variant E642K 1924G>A BRCA-EU 6 99875258 99875258 single base substitution C T downstream_gene_variant BRCA-EU 6 99875416 99875416 single base substitution C T downstream_gene_variant BRCA-EU 6 99875871 99875871 single base substitution C G downstream_gene_variant BRCA-EU 6 99876231 99876231 single base substitution G A downstream_gene_variant BRCA-EU 6 99876448 99876448 single base substitution G A downstream_gene_variant BRCA-EU 6 99878089 99878089 single base substitution T C downstream_gene_variant BRCA-EU 6 99878177 99878177 single base substitution G A downstream_gene_variant BRCA-EU 6 99878862 99878862 single base substitution G C downstream_gene_variant BRCA-EU 6 99878972 99878972 single base substitution C G downstream_gene_variant BRCA-EU 6 99880488 99880488 single base substitution C T 3_prime_UTR_variant BRCA-EU 6 99880488 99880488 single base substitution C T downstream_gene_variant BRCA-EU 6 99880666 99880666 single base substitution T C 3_prime_UTR_variant BRCA-EU 6 99880666 99880666 single base substitution T C downstream_gene_variant BRCA-EU 6 99881233 99881233 single base substitution A C 3_prime_UTR_variant BRCA-EU 6 99881233 99881233 single base substitution A C downstream_gene_variant BRCA-EU 6 99881596 99881596 single base substitution C T 3_prime_UTR_variant BRCA-EU 6 99881596 99881596 single base substitution C T downstream_gene_variant BRCA-EU 6 99884039 99884039 single base substitution C G intron_variant BRCA-EU 6 99885533 99885533 single base substitution T C intron_variant BRCA-EU 6 99885767 99885767 single base substitution C T intron_variant BRCA-EU 6 99885775 99885775 single base substitution C A intron_variant BRCA-EU 6 99887899 99887899 single base substitution A G intron_variant BRCA-EU 6 99888174 99888174 single base substitution C T intron_variant BRCA-EU 6 99888235 99888235 single base substitution A G intron_variant BRCA-EU 6 99888570 99888570 deletion of <=200bp T - intron_variant BRCA-EU 6 99890174 99890174 single base substitution G A downstream_gene_variant BRCA-EU 6 99890174 99890174 single base substitution G A intron_variant BRCA-EU 6 99893715 99893715 single base substitution T G 3_prime_UTR_variant BRCA-EU 6 99893715 99893715 single base substitution T G downstream_gene_variant BRCA-EU 6 99893715 99893715 single base substitution T G intron_variant BRCA-EU 6 99893715 99893715 single base substitution T G missense_variant T325P 973A>C BRCA-EU 6 99893715 99893715 single base substitution T G missense_variant T597P 1789A>C BRCA-EU 6 99893715 99893715 single base substitution T G missense_variant T645P 1933A>C BRCA-EU 6 99893716 99893716 single base substitution A T 3_prime_UTR_variant BRCA-EU 6 99893716 99893716 single base substitution A T downstream_gene_variant BRCA-EU 6 99893716 99893716 single base substitution A T intron_variant BRCA-EU 6 99893716 99893716 single base substitution A T stop_gained C324* 972T>A BRCA-EU 6 99893716 99893716 single base substitution A T stop_gained C596* 1788T>A BRCA-EU 6 99893716 99893716 single base substitution A T stop_gained C644* 1932T>A BRCA-EU 6 99893796 99893796 single base substitution A C 3_prime_UTR_variant BRCA-EU 6 99893796 99893796 single base substitution A C downstream_gene_variant BRCA-EU 6 99893796 99893796 single base substitution A C intron_variant BRCA-EU 6 99893796 99893796 single base substitution A C missense_variant C298G 892T>G BRCA-EU 6 99893796 99893796 single base substitution A C missense_variant C570G 1708T>G BRCA-EU 6 99893796 99893796 single base substitution A C missense_variant C618G 1852T>G BRCA-EU 6 99894845 99894845 single base substitution C A intron_variant BRCA-EU 6 99895038 99895038 single base substitution T C intron_variant BRCA-EU 6 99896128 99896128 single base substitution G C intron_variant BRCA-EU 6 99898465 99898465 single base substitution G A intron_variant BRCA-EU 6 99899100 99899100 single base substitution G A intron_variant BRCA-EU 6 99899500 99899500 single base substitution C G intron_variant BRCA-EU 6 99900796 99900796 single base substitution C G intron_variant BRCA-EU 6 99901012 99901012 single base substitution C G intron_variant BRCA-EU 6 99901258 99901258 deletion of <=200bp A - intron_variant BRCA-EU 6 99901958 99901958 single base substitution C G intron_variant BRCA-EU 6 99905234 99905234 single base substitution C A intron_variant BRCA-EU 6 99908001 99908001 deletion of <=200bp T - downstream_gene_variant BRCA-EU 6 99908001 99908001 deletion of <=200bp T - intron_variant BRCA-EU 6 99909997 99909997 deletion of <=200bp A - downstream_gene_variant BRCA-EU 6 99909997 99909997 deletion of <=200bp A - intron_variant BRCA-EU 6 99910702 99910702 single base substitution T C downstream_gene_variant BRCA-EU 6 99910702 99910702 single base substitution T C intron_variant BRCA-EU 6 99910975 99910975 single base substitution A T downstream_gene_variant BRCA-EU 6 99910975 99910975 single base substitution A T intron_variant BRCA-EU 6 99911354 99911354 single base substitution G C downstream_gene_variant BRCA-EU 6 99911354 99911354 single base substitution G C intron_variant BRCA-EU 6 99915252 99915252 single base substitution T C intron_variant BRCA-EU 6 99915252 99915252 single base substitution T C upstream_gene_variant BRCA-EU 6 99915845 99915845 single base substitution T A intron_variant BRCA-EU 6 99915845 99915845 single base substitution T A upstream_gene_variant BRCA-EU 6 99915863 99915863 single base substitution T C intron_variant BRCA-EU 6 99915863 99915863 single base substitution T C upstream_gene_variant BRCA-EU 6 99918746 99918746 single base substitution T A intron_variant BRCA-EU 6 99919967 99919967 single base substitution C T intron_variant BRCA-EU 6 99923341 99923341 single base substitution G A intron_variant BRCA-EU 6 99924868 99924868 single base substitution C G intron_variant BRCA-EU 6 99924868 99924868 single base substitution C G upstream_gene_variant BRCA-EU 6 99928121 99928121 single base substitution A C downstream_gene_variant BRCA-EU 6 99928121 99928121 single base substitution A C intron_variant BRCA-EU 6 99928121 99928121 single base substitution A C upstream_gene_variant BRCA-EU 6 99929181 99929181 single base substitution G A downstream_gene_variant BRCA-EU 6 99929181 99929181 single base substitution G A intron_variant BRCA-EU 6 99929379 99929379 insertion of <=200bp - T downstream_gene_variant BRCA-EU 6 99929379 99929379 insertion of <=200bp - T intron_variant BRCA-EU 6 99931280 99931280 single base substitution T G intron_variant BRCA-EU 6 99931280 99931280 single base substitution T G upstream_gene_variant BRCA-EU 6 99933214 99933214 single base substitution C T intron_variant BRCA-EU 6 99933214 99933214 single base substitution C T upstream_gene_variant BRCA-EU 6 99934823 99934823 single base substitution A G intron_variant BRCA-EU 6 99934823 99934823 single base substitution A G upstream_gene_variant BRCA-EU 6 99935233 99935233 single base substitution C T intron_variant BRCA-EU 6 99935233 99935233 single base substitution C T upstream_gene_variant BRCA-EU 6 99935899 99935899 single base substitution C A intron_variant BRCA-EU 6 99936000 99936000 single base substitution C T intron_variant BRCA-EU 6 99938765 99938780 deletion of <=200bp AGCAAACCTATTTCAT - intron_variant BRCA-EU 6 99938780 99938780 single base substitution T A intron_variant BRCA-EU 6 99938871 99938871 deletion of <=200bp T - intron_variant BRCA-EU 6 99939879 99939879 single base substitution G C intron_variant BRCA-EU 6 99939977 99939977 single base substitution A C intron_variant BRCA-EU 6 99940150 99940150 single base substitution C G intron_variant BRCA-EU 6 99940156 99940156 single base substitution C T intron_variant BRCA-EU 6 99941364 99941364 insertion of <=200bp - GTAT intron_variant BRCA-EU 6 99941777 99941777 single base substitution C G intron_variant BRCA-EU 6 99942227 99942227 single base substitution T G intron_variant BRCA-EU 6 99944021 99944021 deletion of <=200bp A - intron_variant BRCA-EU 6 99944172 99944172 deletion of <=200bp T - intron_variant BRCA-EU 6 99944645 99944645 single base substitution A T downstream_gene_variant BRCA-EU 6 99944645 99944645 single base substitution A T intron_variant BRCA-EU 6 99944646 99944646 insertion of <=200bp - T downstream_gene_variant BRCA-EU 6 99944646 99944646 insertion of <=200bp - T intron_variant BRCA-EU 6 99945242 99945242 single base substitution C G downstream_gene_variant BRCA-EU 6 99945242 99945242 single base substitution C G intron_variant BRCA-EU 6 99945780 99945780 single base substitution C G downstream_gene_variant BRCA-EU 6 99945780 99945780 single base substitution C G intron_variant BRCA-EU 6 99946401 99946401 single base substitution G C downstream_gene_variant BRCA-EU 6 99946401 99946401 single base substitution G C intron_variant BRCA-EU 6 99947539 99947539 single base substitution G A downstream_gene_variant BRCA-EU 6 99947539 99947539 single base substitution G A intron_variant BRCA-EU 6 99947791 99947791 single base substitution C G downstream_gene_variant BRCA-EU 6 99947791 99947791 single base substitution C G intron_variant BRCA-EU 6 99948013 99948013 insertion of <=200bp - T downstream_gene_variant BRCA-EU 6 99948013 99948013 insertion of <=200bp - T intron_variant BRCA-EU 6 99948407 99948407 single base substitution G A downstream_gene_variant BRCA-EU 6 99948407 99948407 single base substitution G A intron_variant BRCA-EU 6 99948468 99948468 single base substitution T G downstream_gene_variant BRCA-EU 6 99948468 99948468 single base substitution T G intron_variant BRCA-EU 6 99948882 99948882 single base substitution G A downstream_gene_variant BRCA-EU 6 99948882 99948882 single base substitution G A intron_variant BRCA-EU 6 99950754 99950754 single base substitution C A intron_variant BRCA-EU 6 99951136 99951136 single base substitution C A intron_variant BRCA-EU 6 99952516 99952516 single base substitution C G downstream_gene_variant BRCA-EU 6 99952516 99952516 single base substitution C G intron_variant BRCA-EU 6 99952516 99952516 single base substitution C G upstream_gene_variant BRCA-EU 6 99952946 99952946 single base substitution G C downstream_gene_variant BRCA-EU 6 99952946 99952946 single base substitution G C intron_variant BRCA-EU 6 99952946 99952946 single base substitution G C upstream_gene_variant BRCA-EU 6 99954427 99954427 single base substitution C T downstream_gene_variant BRCA-EU 6 99954427 99954427 single base substitution C T intron_variant BRCA-EU 6 99954427 99954427 single base substitution C T upstream_gene_variant BRCA-EU 6 99955706 99955706 single base substitution G A downstream_gene_variant BRCA-EU 6 99955706 99955706 single base substitution G A intron_variant BRCA-EU 6 99955706 99955706 single base substitution G A upstream_gene_variant BRCA-EU 6 99955830 99955830 single base substitution T G downstream_gene_variant BRCA-EU 6 99955830 99955830 single base substitution T G intron_variant BRCA-EU 6 99955830 99955830 single base substitution T G upstream_gene_variant BRCA-EU 6 99957856 99957856 single base substitution T C intron_variant BRCA-EU 6 99957856 99957856 single base substitution T C upstream_gene_variant BRCA-EU 6 99959384 99959384 single base substitution G A intron_variant BRCA-EU 6 99959384 99959384 single base substitution G A upstream_gene_variant BRCA-EU 6 99959834 99959834 single base substitution C T intron_variant BRCA-EU 6 99959834 99959834 single base substitution C T upstream_gene_variant BRCA-EU 6 99962338 99962338 single base substitution T C intron_variant BRCA-EU 6 99962338 99962338 single base substitution T C upstream_gene_variant BRCA-EU 6 99962873 99962873 single base substitution C G 5_prime_UTR_variant BRCA-EU 6 99962873 99962873 single base substitution C G intron_variant BRCA-EU 6 99962873 99962873 single base substitution C G upstream_gene_variant BRCA-EU 6 99963720 99963720 single base substitution G A intron_variant BRCA-EU 6 99963720 99963720 single base substitution G A upstream_gene_variant BRCA-EU 6 99965965 99965965 single base substitution T C intron_variant BRCA-EU 6 99965965 99965965 single base substitution T C upstream_gene_variant BRCA-EU 6 99966453 99966453 single base substitution C T intron_variant BRCA-EU 6 99966453 99966453 single base substitution C T upstream_gene_variant BRCA-EU 6 99966709 99966709 single base substitution G A intron_variant BRCA-EU 6 99966709 99966709 single base substitution G A upstream_gene_variant BRCA-EU 6 99966947 99966947 single base substitution C T intron_variant BRCA-EU 6 99966947 99966947 single base substitution C T upstream_gene_variant BRCA-EU 6 99967623 99967623 single base substitution G C intron_variant BRCA-EU 6 99967623 99967623 single base substitution G C upstream_gene_variant BRCA-EU 6 99968749 99968749 deletion of <=200bp A - intron_variant BRCA-EU 6 99969124 99969125 deletion of <=200bp AA - intron_variant BRCA-EU 6 99969160 99969160 insertion of <=200bp - T intron_variant BRCA-EU 6 99969208 99969208 single base substitution C T intron_variant BRCA-EU 6 99969383 99969383 single base substitution G C intron_variant BRCA-EU 6 99970009 99970009 single base substitution G T upstream_gene_variant BRCA-EU 6 99970973 99970973 single base substitution G T upstream_gene_variant BRCA-EU 6 99972756 99972756 single base substitution C T upstream_gene_variant BRCA-FR 6 99881596 99881596 single base substitution C T 3_prime_UTR_variant BRCA-FR 6 99881596 99881596 single base substitution C T downstream_gene_variant BRCA-FR 6 99891894 99891894 single base substitution C T downstream_gene_variant BRCA-FR 6 99891894 99891894 single base substitution C T intron_variant BRCA-FR 6 99895038 99895038 single base substitution T C intron_variant BRCA-FR 6 99896128 99896128 single base substitution G C intron_variant BRCA-FR 6 99901012 99901012 single base substitution C G intron_variant BRCA-FR 6 99911354 99911354 single base substitution G C downstream_gene_variant BRCA-FR 6 99911354 99911354 single base substitution G C intron_variant BRCA-FR 6 99923341 99923341 single base substitution G A intron_variant BRCA-FR 6 99924868 99924868 single base substitution C G intron_variant BRCA-FR 6 99924868 99924868 single base substitution C G upstream_gene_variant BRCA-FR 6 99927350 99927350 single base substitution T C downstream_gene_variant BRCA-FR 6 99927350 99927350 single base substitution T C intron_variant BRCA-FR 6 99927350 99927350 single base substitution T C upstream_gene_variant BRCA-FR 6 99940150 99940150 single base substitution C G intron_variant BRCA-FR 6 99942227 99942227 single base substitution T G intron_variant BRCA-FR 6 99945242 99945242 single base substitution C G downstream_gene_variant BRCA-FR 6 99945242 99945242 single base substitution C G intron_variant BRCA-FR 6 99945780 99945780 single base substitution C G downstream_gene_variant BRCA-FR 6 99945780 99945780 single base substitution C G intron_variant BRCA-FR 6 99947791 99947791 single base substitution C G downstream_gene_variant BRCA-FR 6 99947791 99947791 single base substitution C G intron_variant BRCA-FR 6 99948882 99948882 single base substitution G A downstream_gene_variant BRCA-FR 6 99948882 99948882 single base substitution G A intron_variant BRCA-UK 6 99884526 99884526 single base substitution C G intron_variant BRCA-UK 6 99893715 99893715 single base substitution T G 3_prime_UTR_variant BRCA-UK 6 99893715 99893715 single base substitution T G downstream_gene_variant BRCA-UK 6 99893715 99893715 single base substitution T G intron_variant BRCA-UK 6 99893715 99893715 single base substitution T G missense_variant T325P 973A>C BRCA-UK 6 99893715 99893715 single base substitution T G missense_variant T597P 1789A>C BRCA-UK 6 99893715 99893715 single base substitution T G missense_variant T645P 1933A>C BRCA-UK 6 99893716 99893716 single base substitution A T 3_prime_UTR_variant BRCA-UK 6 99893716 99893716 single base substitution A T downstream_gene_variant BRCA-UK 6 99893716 99893716 single base substitution A T intron_variant BRCA-UK 6 99893716 99893716 single base substitution A T stop_gained C324* 972T>A BRCA-UK 6 99893716 99893716 single base substitution A T stop_gained C596* 1788T>A BRCA-UK 6 99893716 99893716 single base substitution A T stop_gained C644* 1932T>A BRCA-UK 6 99936655 99936655 single base substitution C G 5_prime_UTR_variant BRCA-UK 6 99936655 99936655 single base substitution C G exon_variant BRCA-UK 6 99936655 99936655 single base substitution C G missense_variant E174Q 520G>C BRCA-UK 6 99949804 99949804 single base substitution G C downstream_gene_variant BRCA-UK 6 99949804 99949804 single base substitution G C exon_variant BRCA-UK 6 99949804 99949804 single base substitution G C intron_variant BRCA-UK 6 99950102 99950102 single base substitution C T intron_variant BRCA-UK 6 99962943 99962943 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant BRCA-UK 6 99962943 99962943 single base substitution G C intron_variant BRCA-UK 6 99962943 99962943 single base substitution G C upstream_gene_variant BRCA-UK 6 99972756 99972756 single base substitution C T upstream_gene_variant BRCA-US 6 99885230 99885230 single base substitution C G 3_prime_UTR_variant BRCA-US 6 99885230 99885230 single base substitution C G missense_variant V29L 85G>C BRCA-US 6 99885230 99885230 single base substitution C G missense_variant V416L 1246G>C BRCA-US 6 99885230 99885230 single base substitution C G missense_variant V688L 2062G>C BRCA-US 6 99885230 99885230 single base substitution C G missense_variant V736L 2206G>C BRCA-US 6 99885238 99885238 single base substitution T C 3_prime_UTR_variant BRCA-US 6 99885238 99885238 single base substitution T C missense_variant Y26C 77A>G BRCA-US 6 99885238 99885238 single base substitution T C missense_variant Y413C 1238A>G BRCA-US 6 99885238 99885238 single base substitution T C missense_variant Y685C 2054A>G BRCA-US 6 99885238 99885238 single base substitution T C missense_variant Y733C 2198A>G BRCA-US 6 99887703 99887703 single base substitution C T 3_prime_UTR_variant BRCA-US 6 99887703 99887703 single base substitution C T 5_prime_UTR_variant BRCA-US 6 99887703 99887703 single base substitution C T missense_variant R381K 1142G>A BRCA-US 6 99887703 99887703 single base substitution C T missense_variant R653K 1958G>A BRCA-US 6 99887703 99887703 single base substitution C T missense_variant R701K 2102G>A BRCA-US 6 99887726 99887726 single base substitution G C 3_prime_UTR_variant BRCA-US 6 99887726 99887726 single base substitution G C 5_prime_UTR_variant BRCA-US 6 99887726 99887726 single base substitution G C synonymous_variant G373G 1119C>G BRCA-US 6 99887726 99887726 single base substitution G C synonymous_variant G645G 1935C>G BRCA-US 6 99887726 99887726 single base substitution G C synonymous_variant G693G 2079C>G BRCA-US 6 99924030 99924030 deletion of <=200bp C - 3_prime_UTR_variant BRCA-US 6 99924030 99924030 deletion of <=200bp C - exon_variant BRCA-US 6 99924030 99924030 deletion of <=200bp C - frameshift_variant E18 BRCA-US 6 99924030 99924030 deletion of <=200bp C - frameshift_variant E308 BRCA-US 6 99924030 99924030 deletion of <=200bp C - frameshift_variant E46 BRCA-US 6 99924030 99924030 deletion of <=200bp C - frameshift_variant E64 BRCA-US 6 99936136 99936136 single base substitution C T 5_prime_UTR_variant BRCA-US 6 99936136 99936136 single base substitution C T exon_variant BRCA-US 6 99936136 99936136 single base substitution C T missense_variant M218I 654G>A BRCA-US 6 99936655 99936655 single base substitution C T 5_prime_UTR_variant BRCA-US 6 99936655 99936655 single base substitution C T exon_variant BRCA-US 6 99936655 99936655 single base substitution C T missense_variant E174K 520G>A BRCA-US 6 99956518 99956518 single base substitution C G 5_prime_UTR_variant BRCA-US 6 99956518 99956518 single base substitution C G downstream_gene_variant BRCA-US 6 99956518 99956518 single base substitution C G exon_variant BRCA-US 6 99956518 99956518 single base substitution C G missense_variant D81H 241G>C BRCA-US 6 99956518 99956518 single base substitution C G upstream_gene_variant BTCA-JP 6 99914622 99914622 single base substitution C T 3_prime_UTR_variant BTCA-JP 6 99914622 99914622 single base substitution C T intron_variant BTCA-JP 6 99914622 99914622 single base substitution C T missense_variant V345M 1033G>A BTCA-JP 6 99914622 99914622 single base substitution C T missense_variant V55M 163G>A BTCA-JP 6 99914622 99914622 single base substitution C T upstream_gene_variant BTCA-JP 6 99916391 99916391 deletion of <=200bp T - intron_variant BTCA-JP 6 99916391 99916391 deletion of <=200bp T - upstream_gene_variant BTCA-JP 6 99955413 99955413 single base substitution G C downstream_gene_variant BTCA-JP 6 99955413 99955413 single base substitution G C splice_region_variant BTCA-JP 6 99955413 99955413 single base substitution G C upstream_gene_variant CESC-US 6 99893792 99893792 single base substitution G A 3_prime_UTR_variant CESC-US 6 99893792 99893792 single base substitution G A downstream_gene_variant CESC-US 6 99893792 99893792 single base substitution G A intron_variant CESC-US 6 99893792 99893792 single base substitution G A missense_variant S299L 896C>T CESC-US 6 99893792 99893792 single base substitution G A missense_variant S571L 1712C>T CESC-US 6 99893792 99893792 single base substitution G A missense_variant S619L 1856C>T CLLE-ES 6 99903402 99903402 single base substitution G A intron_variant CLLE-ES 6 99918958 99918958 deletion of <=200bp G - intron_variant CLLE-ES 6 99949290 99949290 single base substitution T A downstream_gene_variant CLLE-ES 6 99949290 99949290 single base substitution T A intron_variant CLLE-ES 6 99957002 99957002 single base substitution C T intron_variant CLLE-ES 6 99957002 99957002 single base substitution C T upstream_gene_variant COAD-US 6 99887716 99887716 single base substitution G A 3_prime_UTR_variant COAD-US 6 99887716 99887716 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant COAD-US 6 99887716 99887716 single base substitution G A missense_variant R377C 1129C>T COAD-US 6 99887716 99887716 single base substitution G A missense_variant R649C 1945C>T COAD-US 6 99887716 99887716 single base substitution G A missense_variant R697C 2089C>T COAD-US 6 99893878 99893878 single base substitution T C 3_prime_UTR_variant COAD-US 6 99893878 99893878 single base substitution T C exon_variant COAD-US 6 99893878 99893878 single base substitution T C intron_variant COAD-US 6 99893878 99893878 single base substitution T C synonymous_variant L270L 810A>G COAD-US 6 99893878 99893878 single base substitution T C synonymous_variant L542L 1626A>G COAD-US 6 99893878 99893878 single base substitution T C synonymous_variant L590L 1770A>G COAD-US 6 99893879 99893879 deletion of <=200bp A - 3_prime_UTR_variant COAD-US 6 99893879 99893879 deletion of <=200bp A - exon_variant COAD-US 6 99893879 99893879 deletion of <=200bp A - frameshift_variant L270 COAD-US 6 99893879 99893879 deletion of <=200bp A - frameshift_variant L542 COAD-US 6 99893879 99893879 deletion of <=200bp A - frameshift_variant L590 COAD-US 6 99893879 99893879 deletion of <=200bp A - intron_variant COAD-US 6 99894051 99894051 single base substitution G A 3_prime_UTR_variant COAD-US 6 99894051 99894051 single base substitution G A exon_variant COAD-US 6 99894051 99894051 single base substitution G A intron_variant COAD-US 6 99894051 99894051 single base substitution G A missense_variant P213S 637C>T COAD-US 6 99894051 99894051 single base substitution G A missense_variant P485S 1453C>T COAD-US 6 99894051 99894051 single base substitution G A missense_variant P533S 1597C>T COAD-US 6 99894086 99894086 single base substitution C G 3_prime_UTR_variant COAD-US 6 99894086 99894086 single base substitution C G exon_variant COAD-US 6 99894086 99894086 single base substitution C G intron_variant COAD-US 6 99894086 99894086 single base substitution C G missense_variant R201T 602G>C COAD-US 6 99894086 99894086 single base substitution C G missense_variant R473T 1418G>C COAD-US 6 99894086 99894086 single base substitution C G missense_variant R521T 1562G>C COAD-US 6 99930673 99930673 deletion of <=200bp T - exon_variant COAD-US 6 99930673 99930673 deletion of <=200bp T - frameshift_variant K23 COAD-US 6 99930673 99930673 deletion of <=200bp T - frameshift_variant K267 COAD-US 6 99930673 99930673 deletion of <=200bp T - intron_variant COAD-US 6 99936603 99936603 single base substitution C T 5_prime_UTR_variant COAD-US 6 99936603 99936603 single base substitution C T exon_variant COAD-US 6 99936603 99936603 single base substitution C T missense_variant G191E 572G>A COAD-US 6 99936616 99936616 single base substitution A C 5_prime_UTR_premature_start_codon_gain_variant COAD-US 6 99936616 99936616 single base substitution A C exon_variant COAD-US 6 99936616 99936616 single base substitution A C missense_variant L187V 559T>G COCA-CN 6 99878879 99878879 single base substitution G A downstream_gene_variant COCA-CN 6 99887625 99887625 single base substitution A C intron_variant COCA-CN 6 99891451 99891451 single base substitution C A 3_prime_UTR_variant COCA-CN 6 99891451 99891451 single base substitution C A 5_prime_UTR_variant COCA-CN 6 99891451 99891451 single base substitution C A downstream_gene_variant COCA-CN 6 99891451 99891451 single base substitution C A missense_variant R368I 1103G>T COCA-CN 6 99891451 99891451 single base substitution C A missense_variant R640I 1919G>T COCA-CN 6 99891451 99891451 single base substitution C A missense_variant R688I 2063G>T COCA-CN 6 99912644 99912644 single base substitution G A exon_variant COCA-CN 6 99912644 99912644 single base substitution G A intron_variant COCA-CN 6 99912644 99912644 single base substitution G A upstream_gene_variant COCA-CN 6 99912973 99912973 single base substitution G A 3_prime_UTR_variant COCA-CN 6 99912973 99912973 single base substitution G A missense_variant P383S 1147C>T COCA-CN 6 99912973 99912973 single base substitution G A missense_variant P63S 187C>T COCA-CN 6 99912973 99912973 single base substitution G A missense_variant P81S 241C>T COCA-CN 6 99912973 99912973 single base substitution G A missense_variant P93S 277C>T COCA-CN 6 99912973 99912973 single base substitution G A upstream_gene_variant COCA-CN 6 99920112 99920112 single base substitution G T intron_variant COCA-CN 6 99920835 99920835 single base substitution G T intron_variant COCA-CN 6 99926888 99926888 single base substitution C A downstream_gene_variant COCA-CN 6 99926888 99926888 single base substitution C A intron_variant COCA-CN 6 99926888 99926888 single base substitution C A upstream_gene_variant COCA-CN 6 99928104 99928104 single base substitution T G downstream_gene_variant COCA-CN 6 99928104 99928104 single base substitution T G intron_variant COCA-CN 6 99928104 99928104 single base substitution T G upstream_gene_variant COCA-CN 6 99936001 99936001 single base substitution G T intron_variant COCA-CN 6 99944646 99944646 single base substitution T A downstream_gene_variant COCA-CN 6 99944646 99944646 single base substitution T A intron_variant COCA-CN 6 99951711 99951711 single base substitution C T 5_prime_UTR_variant COCA-CN 6 99951711 99951711 single base substitution C T downstream_gene_variant COCA-CN 6 99951711 99951711 single base substitution C T exon_variant COCA-CN 6 99951711 99951711 single base substitution C T synonymous_variant T136T 408G>A COCA-CN 6 99951711 99951711 single base substitution C T upstream_gene_variant COCA-CN 6 99956550 99956550 single base substitution C A 5_prime_UTR_variant COCA-CN 6 99956550 99956550 single base substitution C A downstream_gene_variant COCA-CN 6 99956550 99956550 single base substitution C A exon_variant COCA-CN 6 99956550 99956550 single base substitution C A missense_variant R70I 209G>T COCA-CN 6 99956550 99956550 single base substitution C A upstream_gene_variant COCA-CN 6 99973893 99973893 single base substitution G A upstream_gene_variant EOPC-DE 6 99968045 99968045 single base substitution G A intron_variant EOPC-DE 6 99968045 99968045 single base substitution G A upstream_gene_variant ESAD-UK 6 99877295 99877295 single base substitution A G downstream_gene_variant ESAD-UK 6 99878983 99878983 single base substitution C T downstream_gene_variant ESAD-UK 6 99879443 99879443 single base substitution C T downstream_gene_variant ESAD-UK 6 99884747 99884747 single base substitution G A intron_variant ESAD-UK 6 99885289 99885289 insertion of <=200bp - A intron_variant ESAD-UK 6 99886546 99886546 single base substitution G T intron_variant ESAD-UK 6 99886691 99886691 single base substitution G A intron_variant ESAD-UK 6 99887422 99887422 single base substitution C T intron_variant ESAD-UK 6 99888936 99888936 single base substitution T A downstream_gene_variant ESAD-UK 6 99888936 99888936 single base substitution T A intron_variant ESAD-UK 6 99889711 99889711 single base substitution T A downstream_gene_variant ESAD-UK 6 99889711 99889711 single base substitution T A intron_variant ESAD-UK 6 99891718 99891718 deletion of <=200bp T - downstream_gene_variant ESAD-UK 6 99891718 99891718 deletion of <=200bp T - intron_variant ESAD-UK 6 99892889 99892889 single base substitution A G downstream_gene_variant ESAD-UK 6 99892889 99892889 single base substitution A G intron_variant ESAD-UK 6 99893623 99893623 single base substitution A C downstream_gene_variant ESAD-UK 6 99893623 99893623 single base substitution A C intron_variant ESAD-UK 6 99894486 99894486 single base substitution A C intron_variant ESAD-UK 6 99895182 99895182 single base substitution C G intron_variant ESAD-UK 6 99895443 99895443 single base substitution C G intron_variant ESAD-UK 6 99896372 99896372 single base substitution G A intron_variant ESAD-UK 6 99896714 99896714 single base substitution C A intron_variant ESAD-UK 6 99896828 99896828 single base substitution C A intron_variant ESAD-UK 6 99900593 99900593 single base substitution C T intron_variant ESAD-UK 6 99902348 99902348 single base substitution A G intron_variant ESAD-UK 6 99903964 99903964 single base substitution G A intron_variant ESAD-UK 6 99904869 99904869 single base substitution G A intron_variant ESAD-UK 6 99904895 99904895 single base substitution T C intron_variant ESAD-UK 6 99905386 99905386 single base substitution G A downstream_gene_variant ESAD-UK 6 99905386 99905386 single base substitution G A intron_variant ESAD-UK 6 99909997 99909997 deletion of <=200bp A - downstream_gene_variant ESAD-UK 6 99909997 99909997 deletion of <=200bp A - intron_variant ESAD-UK 6 99911270 99911270 single base substitution T A downstream_gene_variant ESAD-UK 6 99911270 99911270 single base substitution T A intron_variant ESAD-UK 6 99911981 99911981 single base substitution G A downstream_gene_variant ESAD-UK 6 99911981 99911981 single base substitution G A intron_variant ESAD-UK 6 99915113 99915113 single base substitution G T intron_variant ESAD-UK 6 99915113 99915113 single base substitution G T upstream_gene_variant ESAD-UK 6 99917366 99917366 single base substitution T A intron_variant ESAD-UK 6 99917366 99917366 single base substitution T A upstream_gene_variant ESAD-UK 6 99920604 99920604 single base substitution A C intron_variant ESAD-UK 6 99921031 99921031 single base substitution C A intron_variant ESAD-UK 6 99922272 99922272 single base substitution C T intron_variant ESAD-UK 6 99922715 99922715 single base substitution T G intron_variant ESAD-UK 6 99928352 99928352 single base substitution G C downstream_gene_variant ESAD-UK 6 99928352 99928352 single base substitution G C intron_variant ESAD-UK 6 99928352 99928352 single base substitution G C upstream_gene_variant ESAD-UK 6 99929814 99929814 single base substitution G A downstream_gene_variant ESAD-UK 6 99929814 99929814 single base substitution G A intron_variant ESAD-UK 6 99931164 99931164 single base substitution C G intron_variant ESAD-UK 6 99931164 99931164 single base substitution C G upstream_gene_variant ESAD-UK 6 99931225 99931225 single base substitution C T intron_variant ESAD-UK 6 99931225 99931225 single base substitution C T upstream_gene_variant ESAD-UK 6 99932542 99932542 single base substitution G C intron_variant ESAD-UK 6 99932542 99932542 single base substitution G C upstream_gene_variant ESAD-UK 6 99933454 99933454 deletion of <=200bp G - intron_variant ESAD-UK 6 99933454 99933454 deletion of <=200bp G - upstream_gene_variant ESAD-UK 6 99935345 99935345 single base substitution A G intron_variant ESAD-UK 6 99935345 99935345 single base substitution A G upstream_gene_variant ESAD-UK 6 99939061 99939061 single base substitution G A intron_variant ESAD-UK 6 99939297 99939297 single base substitution G A intron_variant ESAD-UK 6 99940322 99940322 single base substitution T G intron_variant ESAD-UK 6 99940474 99940474 single base substitution G A intron_variant ESAD-UK 6 99940978 99940978 single base substitution C T intron_variant ESAD-UK 6 99944645 99944646 deletion of <=200bp AT - downstream_gene_variant ESAD-UK 6 99944645 99944646 deletion of <=200bp AT - intron_variant ESAD-UK 6 99946837 99946837 single base substitution G C downstream_gene_variant ESAD-UK 6 99946837 99946837 single base substitution G C intron_variant ESAD-UK 6 99948362 99948362 single base substitution T G downstream_gene_variant ESAD-UK 6 99948362 99948362 single base substitution T G intron_variant ESAD-UK 6 99948492 99948492 single base substitution C T downstream_gene_variant ESAD-UK 6 99948492 99948492 single base substitution C T intron_variant ESAD-UK 6 99948630 99948630 single base substitution G A downstream_gene_variant ESAD-UK 6 99948630 99948630 single base substitution G A intron_variant ESAD-UK 6 99956049 99956049 single base substitution T A downstream_gene_variant ESAD-UK 6 99956049 99956049 single base substitution T A intron_variant ESAD-UK 6 99956049 99956049 single base substitution T A upstream_gene_variant ESAD-UK 6 99956367 99956367 single base substitution T G downstream_gene_variant ESAD-UK 6 99956367 99956367 single base substitution T G intron_variant ESAD-UK 6 99956367 99956367 single base substitution T G upstream_gene_variant ESAD-UK 6 99958694 99958694 single base substitution G A intron_variant ESAD-UK 6 99958694 99958694 single base substitution G A upstream_gene_variant ESAD-UK 6 99959151 99959151 single base substitution C A intron_variant ESAD-UK 6 99959151 99959151 single base substitution C A upstream_gene_variant ESAD-UK 6 99959280 99959281 deletion of <=200bp CA - intron_variant ESAD-UK 6 99959280 99959281 deletion of <=200bp CA - upstream_gene_variant ESAD-UK 6 99959358 99959358 single base substitution C G intron_variant ESAD-UK 6 99959358 99959358 single base substitution C G upstream_gene_variant ESAD-UK 6 99961232 99961232 single base substitution C T intron_variant ESAD-UK 6 99961232 99961232 single base substitution C T upstream_gene_variant ESAD-UK 6 99963555 99963555 single base substitution G A intron_variant ESAD-UK 6 99963555 99963555 single base substitution G A upstream_gene_variant ESAD-UK 6 99965222 99965222 single base substitution A T intron_variant ESAD-UK 6 99965222 99965222 single base substitution A T upstream_gene_variant ESAD-UK 6 99965867 99965867 single base substitution C G intron_variant ESAD-UK 6 99965867 99965867 single base substitution C G upstream_gene_variant ESAD-UK 6 99968849 99968849 deletion of <=200bp C - 5_prime_UTR_variant ESAD-UK 6 99971546 99971546 single base substitution A G upstream_gene_variant ESAD-UK 6 99971570 99971570 single base substitution G A upstream_gene_variant ESAD-UK 6 99972180 99972180 single base substitution G A upstream_gene_variant ESAD-UK 6 99972761 99972761 single base substitution T G upstream_gene_variant ESAD-UK 6 99972966 99972966 single base substitution G C upstream_gene_variant ESCA-CN 6 99968755 99968755 single base substitution A T intron_variant ESCA-CN 6 99974080 99974080 deletion of <=200bp A - upstream_gene_variant GBM-US 6 99930669 99930669 single base substitution G A exon_variant GBM-US 6 99930669 99930669 single base substitution G A intron_variant GBM-US 6 99930669 99930669 single base substitution G A missense_variant P25S 73C>T GBM-US 6 99930669 99930669 single base substitution G A missense_variant P269S 805C>T KIRC-US 6 99912577 99912577 deletion of <=200bp A - 3_prime_UTR_variant KIRC-US 6 99912577 99912577 deletion of <=200bp A - exon_variant KIRC-US 6 99912577 99912577 deletion of <=200bp A - frameshift_variant L102 KIRC-US 6 99912577 99912577 deletion of <=200bp A - frameshift_variant L114 KIRC-US 6 99912577 99912577 deletion of <=200bp A - frameshift_variant L404 KIRC-US 6 99912577 99912577 deletion of <=200bp A - frameshift_variant L84 KIRC-US 6 99912577 99912577 deletion of <=200bp A - intron_variant KIRC-US 6 99912577 99912577 deletion of <=200bp A - upstream_gene_variant KIRC-US 6 99924089 99924089 single base substitution T C 3_prime_UTR_variant KIRC-US 6 99924089 99924089 single base substitution T C exon_variant KIRC-US 6 99924089 99924089 single base substitution T C missense_variant D26G 77A>G KIRC-US 6 99924089 99924089 single base substitution T C missense_variant D288G 863A>G KIRC-US 6 99924089 99924089 single base substitution T C missense_variant D44G 131A>G KIRC-US 6 99924089 99924089 single base substitution T C upstream_gene_variant KIRP-US 6 99894085 99894085 single base substitution T C 3_prime_UTR_variant KIRP-US 6 99894085 99894085 single base substitution T C exon_variant KIRP-US 6 99894085 99894085 single base substitution T C intron_variant KIRP-US 6 99894085 99894085 single base substitution T C synonymous_variant R201R 603A>G KIRP-US 6 99894085 99894085 single base substitution T C synonymous_variant R473R 1419A>G KIRP-US 6 99894085 99894085 single base substitution T C synonymous_variant R521R 1563A>G KIRP-US 6 99930682 99930682 single base substitution C A exon_variant KIRP-US 6 99930682 99930682 single base substitution C A intron_variant KIRP-US 6 99930682 99930682 single base substitution C A missense_variant E20D 60G>T KIRP-US 6 99930682 99930682 single base substitution C A missense_variant E264D 792G>T LAML-KR 6 99901042 99901042 single base substitution T A intron_variant LAML-KR 6 99956560 99956560 single base substitution T C 5_prime_UTR_variant LAML-KR 6 99956560 99956560 single base substitution T C downstream_gene_variant LAML-KR 6 99956560 99956560 single base substitution T C exon_variant LAML-KR 6 99956560 99956560 single base substitution T C missense_variant K67E 199A>G LAML-KR 6 99956560 99956560 single base substitution T C upstream_gene_variant LICA-FR 6 99876729 99876729 insertion of <=200bp - TTT downstream_gene_variant LICA-FR 6 99881206 99881206 single base substitution T C 3_prime_UTR_variant LICA-FR 6 99881206 99881206 single base substitution T C downstream_gene_variant LICA-FR 6 99887682 99887682 single base substitution A G 3_prime_UTR_variant LICA-FR 6 99887682 99887682 single base substitution A G missense_variant M388T 1163T>C LICA-FR 6 99887682 99887682 single base substitution A G missense_variant M660T 1979T>C LICA-FR 6 99887682 99887682 single base substitution A G missense_variant M708T 2123T>C LICA-FR 6 99887682 99887682 single base substitution A G start_lost M1T 2T>C LICA-FR 6 99893360 99893360 deletion of <=200bp A - downstream_gene_variant LICA-FR 6 99893360 99893360 deletion of <=200bp A - intron_variant LICA-FR 6 99894186 99894186 single base substitution C T 3_prime_UTR_variant LICA-FR 6 99894186 99894186 single base substitution C T exon_variant LICA-FR 6 99894186 99894186 single base substitution C T intron_variant LICA-FR 6 99894186 99894186 single base substitution C T missense_variant D168N 502G>A LICA-FR 6 99894186 99894186 single base substitution C T missense_variant D440N 1318G>A LICA-FR 6 99894186 99894186 single base substitution C T missense_variant D488N 1462G>A LICA-FR 6 99909035 99909035 single base substitution A C downstream_gene_variant LICA-FR 6 99909035 99909035 single base substitution A C intron_variant LICA-FR 6 99921798 99921798 single base substitution A C intron_variant LICA-FR 6 99923194 99923197 deletion of <=200bp TTTT - intron_variant LICA-FR 6 99925167 99925167 single base substitution T G downstream_gene_variant LICA-FR 6 99925167 99925167 single base substitution T G intron_variant LICA-FR 6 99925167 99925167 single base substitution T G upstream_gene_variant LICA-FR 6 99929355 99929355 single base substitution T G downstream_gene_variant LICA-FR 6 99929355 99929355 single base substitution T G intron_variant LICA-FR 6 99958002 99958002 single base substitution A T 5_prime_UTR_premature_start_codon_gain_variant LICA-FR 6 99958002 99958002 single base substitution A T exon_variant LICA-FR 6 99958002 99958002 single base substitution A T missense_variant I32N 95T>A LICA-FR 6 99958002 99958002 single base substitution A T upstream_gene_variant LINC-JP 6 99884512 99884512 single base substitution A G intron_variant LINC-JP 6 99886828 99886828 single base substitution T G intron_variant LINC-JP 6 99915986 99915986 single base substitution T A 3_prime_UTR_variant LINC-JP 6 99915986 99915986 single base substitution T A intron_variant LINC-JP 6 99915986 99915986 single base substitution T A upstream_gene_variant LINC-JP 6 99928806 99928806 deletion of <=200bp A - downstream_gene_variant LINC-JP 6 99928806 99928806 deletion of <=200bp A - intron_variant LINC-JP 6 99928806 99928806 deletion of <=200bp A - upstream_gene_variant LINC-JP 6 99936652 99936652 deletion of <=200bp T - 5_prime_UTR_variant LINC-JP 6 99936652 99936652 deletion of <=200bp T - exon_variant LINC-JP 6 99936652 99936652 deletion of <=200bp T - frameshift_variant T175 LINC-JP 6 99944021 99944021 deletion of <=200bp A - intron_variant LINC-JP 6 99955257 99955257 single base substitution G T downstream_gene_variant LINC-JP 6 99955257 99955257 single base substitution G T intron_variant LINC-JP 6 99955257 99955257 single base substitution G T upstream_gene_variant LINC-JP 6 99965494 99965494 single base substitution G T intron_variant LINC-JP 6 99965494 99965494 single base substitution G T upstream_gene_variant LINC-JP 6 99968935 99968935 single base substitution C T 5_prime_UTR_variant LINC-JP 6 99974090 99974090 single base substitution A G upstream_gene_variant LINC-JP 6 99974091 99974091 single base substitution G A upstream_gene_variant LIRI-JP 6 99881316 99881316 single base substitution T G 3_prime_UTR_variant LIRI-JP 6 99881316 99881316 single base substitution T G downstream_gene_variant LIRI-JP 6 99881537 99881537 single base substitution C A 3_prime_UTR_variant LIRI-JP 6 99881537 99881537 single base substitution C A downstream_gene_variant LIRI-JP 6 99881539 99881539 single base substitution A G 3_prime_UTR_variant LIRI-JP 6 99881539 99881539 single base substitution A G downstream_gene_variant LIRI-JP 6 99882443 99882443 single base substitution A G 3_prime_UTR_variant LIRI-JP 6 99882443 99882443 single base substitution A G downstream_gene_variant LIRI-JP 6 99883514 99883514 single base substitution A G 3_prime_UTR_variant LIRI-JP 6 99883583 99883583 insertion of <=200bp - CATTA 3_prime_UTR_variant LIRI-JP 6 99886956 99886956 single base substitution A G intron_variant LIRI-JP 6 99887173 99887173 single base substitution T C intron_variant LIRI-JP 6 99888331 99888331 single base substitution T C intron_variant LIRI-JP 6 99889778 99889778 single base substitution A G downstream_gene_variant LIRI-JP 6 99889778 99889778 single base substitution A G intron_variant LIRI-JP 6 99892636 99892636 single base substitution G A downstream_gene_variant LIRI-JP 6 99892636 99892636 single base substitution G A intron_variant LIRI-JP 6 99898097 99898097 single base substitution T C intron_variant LIRI-JP 6 99899139 99899139 single base substitution A C intron_variant LIRI-JP 6 99901839 99901839 single base substitution A G intron_variant LIRI-JP 6 99907512 99907512 single base substitution G A downstream_gene_variant LIRI-JP 6 99907512 99907512 single base substitution G A intron_variant LIRI-JP 6 99907622 99907622 single base substitution T C downstream_gene_variant LIRI-JP 6 99907622 99907622 single base substitution T C intron_variant LIRI-JP 6 99909982 99909982 single base substitution T C downstream_gene_variant LIRI-JP 6 99909982 99909982 single base substitution T C intron_variant LIRI-JP 6 99911444 99911444 single base substitution C T downstream_gene_variant LIRI-JP 6 99911444 99911444 single base substitution C T intron_variant LIRI-JP 6 99911742 99911742 single base substitution A C downstream_gene_variant LIRI-JP 6 99911742 99911742 single base substitution A C intron_variant LIRI-JP 6 99911747 99911747 single base substitution A G downstream_gene_variant LIRI-JP 6 99911747 99911747 single base substitution A G intron_variant LIRI-JP 6 99912658 99912658 single base substitution T G exon_variant LIRI-JP 6 99912658 99912658 single base substitution T G intron_variant LIRI-JP 6 99912658 99912658 single base substitution T G upstream_gene_variant LIRI-JP 6 99914454 99914454 single base substitution A G intron_variant LIRI-JP 6 99914454 99914454 single base substitution A G upstream_gene_variant LIRI-JP 6 99915197 99915197 single base substitution A C intron_variant LIRI-JP 6 99915197 99915197 single base substitution A C upstream_gene_variant LIRI-JP 6 99918901 99918901 single base substitution T C intron_variant LIRI-JP 6 99920330 99920330 single base substitution G A intron_variant LIRI-JP 6 99923536 99923536 single base substitution G A intron_variant LIRI-JP 6 99923576 99923576 single base substitution A C intron_variant LIRI-JP 6 99926638 99926638 single base substitution G T downstream_gene_variant LIRI-JP 6 99926638 99926638 single base substitution G T intron_variant LIRI-JP 6 99926638 99926638 single base substitution G T upstream_gene_variant LIRI-JP 6 99930007 99930007 single base substitution T A downstream_gene_variant LIRI-JP 6 99930007 99930007 single base substitution T A intron_variant LIRI-JP 6 99930041 99930041 single base substitution C T downstream_gene_variant LIRI-JP 6 99930041 99930041 single base substitution C T intron_variant LIRI-JP 6 99930572 99930572 single base substitution G T 3_prime_UTR_variant LIRI-JP 6 99930572 99930572 single base substitution G T intron_variant LIRI-JP 6 99933155 99933155 single base substitution A C intron_variant LIRI-JP 6 99933155 99933155 single base substitution A C upstream_gene_variant LIRI-JP 6 99933357 99933357 single base substitution T C intron_variant LIRI-JP 6 99933357 99933357 single base substitution T C upstream_gene_variant LIRI-JP 6 99933781 99933781 single base substitution G A intron_variant LIRI-JP 6 99933781 99933781 single base substitution G A upstream_gene_variant LIRI-JP 6 99934224 99934224 single base substitution A G intron_variant LIRI-JP 6 99934224 99934224 single base substitution A G upstream_gene_variant LIRI-JP 6 99934900 99934900 single base substitution T C intron_variant LIRI-JP 6 99934900 99934900 single base substitution T C upstream_gene_variant LIRI-JP 6 99940246 99940246 single base substitution T G intron_variant LIRI-JP 6 99946559 99946559 single base substitution T G downstream_gene_variant LIRI-JP 6 99946559 99946559 single base substitution T G intron_variant LIRI-JP 6 99947978 99947978 single base substitution C T downstream_gene_variant LIRI-JP 6 99947978 99947978 single base substitution C T intron_variant LIRI-JP 6 99948808 99948808 single base substitution A T downstream_gene_variant LIRI-JP 6 99948808 99948808 single base substitution A T intron_variant LIRI-JP 6 99949233 99949233 single base substitution C A downstream_gene_variant LIRI-JP 6 99949233 99949233 single base substitution C A intron_variant LIRI-JP 6 99949683 99949683 single base substitution T C downstream_gene_variant LIRI-JP 6 99949683 99949683 single base substitution T C exon_variant LIRI-JP 6 99949683 99949683 single base substitution T C intron_variant LIRI-JP 6 99954185 99954185 single base substitution A C downstream_gene_variant LIRI-JP 6 99954185 99954185 single base substitution A C intron_variant LIRI-JP 6 99954185 99954185 single base substitution A C upstream_gene_variant LIRI-JP 6 99957257 99957257 single base substitution G A intron_variant LIRI-JP 6 99957257 99957257 single base substitution G A upstream_gene_variant LIRI-JP 6 99965571 99965571 single base substitution G T intron_variant LIRI-JP 6 99965571 99965571 single base substitution G T upstream_gene_variant LIRI-JP 6 99967905 99967905 single base substitution G A intron_variant LIRI-JP 6 99967905 99967905 single base substitution G A upstream_gene_variant LIRI-JP 6 99968305 99968305 single base substitution C G intron_variant LIRI-JP 6 99968305 99968305 single base substitution C G upstream_gene_variant LIRI-JP 6 99970550 99970550 single base substitution C T upstream_gene_variant LIRI-JP 6 99970556 99970556 single base substitution G T upstream_gene_variant LIRI-JP 6 99971237 99971237 single base substitution T C upstream_gene_variant LIRI-JP 6 99971740 99971740 single base substitution A C upstream_gene_variant LIRI-JP 6 99972484 99972484 single base substitution A G upstream_gene_variant LIRI-JP 6 99972856 99972856 single base substitution A C upstream_gene_variant LIRI-JP 6 99973716 99973716 single base substitution A G upstream_gene_variant LUSC-KR 6 99883694 99883694 single base substitution T C 3_prime_UTR_variant LUSC-KR 6 99883694 99883694 single base substitution T C synonymous_variant A461A 1383A>G LUSC-KR 6 99883694 99883694 single base substitution T C synonymous_variant A733A 2199A>G LUSC-KR 6 99883694 99883694 single base substitution T C synonymous_variant A74A 222A>G LUSC-KR 6 99883694 99883694 single base substitution T C synonymous_variant A781A 2343A>G LUSC-KR 6 99887484 99887484 single base substitution A G intron_variant LUSC-KR 6 99890705 99890705 single base substitution G A downstream_gene_variant LUSC-KR 6 99890705 99890705 single base substitution G A intron_variant LUSC-KR 6 99908684 99908684 single base substitution A G downstream_gene_variant LUSC-KR 6 99908684 99908684 single base substitution A G intron_variant LUSC-KR 6 99915537 99915537 single base substitution A G intron_variant LUSC-KR 6 99915537 99915537 single base substitution A G upstream_gene_variant LUSC-KR 6 99927498 99927498 single base substitution T A downstream_gene_variant LUSC-KR 6 99927498 99927498 single base substitution T A intron_variant LUSC-KR 6 99927498 99927498 single base substitution T A upstream_gene_variant LUSC-KR 6 99929939 99929939 single base substitution C A downstream_gene_variant LUSC-KR 6 99929939 99929939 single base substitution C A intron_variant LUSC-KR 6 99953029 99953029 single base substitution C T downstream_gene_variant LUSC-KR 6 99953029 99953029 single base substitution C T intron_variant LUSC-KR 6 99953029 99953029 single base substitution C T upstream_gene_variant LUSC-KR 6 99972950 99972950 single base substitution G C upstream_gene_variant LUSC-US 6 99951668 99951668 single base substitution G T 5_prime_UTR_variant LUSC-US 6 99951668 99951668 single base substitution G T downstream_gene_variant LUSC-US 6 99951668 99951668 single base substitution G T exon_variant LUSC-US 6 99951668 99951668 single base substitution G T missense_variant Q151K 451C>A LUSC-US 6 99951668 99951668 single base substitution G T upstream_gene_variant MALY-DE 6 99880426 99880426 single base substitution C T 3_prime_UTR_variant MALY-DE 6 99880426 99880426 single base substitution C T downstream_gene_variant MALY-DE 6 99890076 99890076 single base substitution C T downstream_gene_variant MALY-DE 6 99890076 99890076 single base substitution C T intron_variant MALY-DE 6 99920666 99920666 single base substitution G A intron_variant MALY-DE 6 99937683 99937683 single base substitution C T intron_variant MALY-DE 6 99952447 99952447 single base substitution A C downstream_gene_variant MALY-DE 6 99952447 99952447 single base substitution A C intron_variant MALY-DE 6 99952447 99952447 single base substitution A C upstream_gene_variant MALY-DE 6 99955005 99955005 single base substitution C T downstream_gene_variant MALY-DE 6 99955005 99955005 single base substitution C T intron_variant MALY-DE 6 99955005 99955005 single base substitution C T upstream_gene_variant MALY-DE 6 99968853 99968853 insertion of <=200bp - AGGGCGCCGGAGAGCCTGGAGC 5_prime_UTR_variant MELA-AU 6 99876946 99876946 single base substitution C T downstream_gene_variant MELA-AU 6 99878080 99878080 single base substitution T C downstream_gene_variant MELA-AU 6 99880123 99880123 single base substitution C A downstream_gene_variant MELA-AU 6 99881059 99881059 single base substitution A T 3_prime_UTR_variant MELA-AU 6 99881059 99881059 single base substitution A T downstream_gene_variant MELA-AU 6 99881789 99881789 single base substitution G A 3_prime_UTR_variant MELA-AU 6 99881789 99881789 single base substitution G A downstream_gene_variant MELA-AU 6 99883752 99883752 single base substitution A G intron_variant MELA-AU 6 99885582 99885582 single base substitution G T intron_variant MELA-AU 6 99885619 99885619 single base substitution C T intron_variant MELA-AU 6 99886075 99886075 single base substitution A T intron_variant MELA-AU 6 99886770 99886770 single base substitution G A intron_variant MELA-AU 6 99887482 99887482 single base substitution C T intron_variant MELA-AU 6 99887563 99887563 single base substitution G A intron_variant MELA-AU 6 99888407 99888407 single base substitution G A intron_variant MELA-AU 6 99889330 99889330 single base substitution C T downstream_gene_variant MELA-AU 6 99889330 99889330 single base substitution C T intron_variant MELA-AU 6 99889355 99889355 single base substitution C G downstream_gene_variant MELA-AU 6 99889355 99889355 single base substitution C G intron_variant MELA-AU 6 99891811 99891811 single base substitution A G downstream_gene_variant MELA-AU 6 99891811 99891811 single base substitution A G intron_variant MELA-AU 6 99892595 99892595 single base substitution C T downstream_gene_variant MELA-AU 6 99892595 99892595 single base substitution C T intron_variant MELA-AU 6 99892919 99892919 single base substitution C A downstream_gene_variant MELA-AU 6 99892919 99892919 single base substitution C A intron_variant MELA-AU 6 99895643 99895644 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 99898341 99898341 single base substitution C A intron_variant MELA-AU 6 99899956 99899956 single base substitution G A intron_variant MELA-AU 6 99900555 99900555 single base substitution A G intron_variant MELA-AU 6 99902027 99902027 single base substitution A C intron_variant MELA-AU 6 99902559 99902559 single base substitution T C intron_variant MELA-AU 6 99902722 99902722 single base substitution T G intron_variant MELA-AU 6 99903058 99903058 single base substitution C T intron_variant MELA-AU 6 99905501 99905501 single base substitution G A downstream_gene_variant MELA-AU 6 99905501 99905501 single base substitution G A intron_variant MELA-AU 6 99905520 99905520 single base substitution A G downstream_gene_variant MELA-AU 6 99905520 99905520 single base substitution A G intron_variant MELA-AU 6 99907461 99907461 single base substitution A T downstream_gene_variant MELA-AU 6 99907461 99907461 single base substitution A T intron_variant MELA-AU 6 99908188 99908188 single base substitution A G downstream_gene_variant MELA-AU 6 99908188 99908188 single base substitution A G intron_variant MELA-AU 6 99909002 99909003 multiple base substitution (>=2bp and <=200bp) AA GT downstream_gene_variant MELA-AU 6 99909002 99909003 multiple base substitution (>=2bp and <=200bp) AA GT intron_variant MELA-AU 6 99909330 99909330 single base substitution T A downstream_gene_variant MELA-AU 6 99909330 99909330 single base substitution T A intron_variant MELA-AU 6 99910682 99910682 single base substitution A G 3_prime_UTR_variant MELA-AU 6 99910682 99910682 single base substitution A G downstream_gene_variant MELA-AU 6 99910682 99910682 single base substitution A G intron_variant MELA-AU 6 99911149 99911149 single base substitution C T downstream_gene_variant MELA-AU 6 99911149 99911149 single base substitution C T intron_variant MELA-AU 6 99911486 99911486 single base substitution G A downstream_gene_variant MELA-AU 6 99911486 99911486 single base substitution G A intron_variant MELA-AU 6 99911605 99911605 single base substitution T C downstream_gene_variant MELA-AU 6 99911605 99911605 single base substitution T C intron_variant MELA-AU 6 99912935 99912935 single base substitution C T intron_variant MELA-AU 6 99912935 99912935 single base substitution C T upstream_gene_variant MELA-AU 6 99914154 99914154 single base substitution C A intron_variant MELA-AU 6 99914154 99914154 single base substitution C A upstream_gene_variant MELA-AU 6 99914438 99914438 single base substitution A G intron_variant MELA-AU 6 99914438 99914438 single base substitution A G upstream_gene_variant MELA-AU 6 99915216 99915216 single base substitution G A intron_variant MELA-AU 6 99915216 99915216 single base substitution G A upstream_gene_variant MELA-AU 6 99915449 99915449 single base substitution T A intron_variant MELA-AU 6 99915449 99915449 single base substitution T A upstream_gene_variant MELA-AU 6 99915544 99915544 single base substitution G A intron_variant MELA-AU 6 99915544 99915544 single base substitution G A upstream_gene_variant MELA-AU 6 99915585 99915585 single base substitution G A intron_variant MELA-AU 6 99915585 99915585 single base substitution G A upstream_gene_variant MELA-AU 6 99917295 99917295 single base substitution G A intron_variant MELA-AU 6 99917295 99917295 single base substitution G A upstream_gene_variant MELA-AU 6 99917366 99917366 single base substitution T A intron_variant MELA-AU 6 99917366 99917366 single base substitution T A upstream_gene_variant MELA-AU 6 99917370 99917370 single base substitution T A intron_variant MELA-AU 6 99917370 99917370 single base substitution T A upstream_gene_variant MELA-AU 6 99918958 99918958 single base substitution G A intron_variant MELA-AU 6 99918967 99918967 single base substitution T A intron_variant MELA-AU 6 99921459 99921459 single base substitution C T intron_variant MELA-AU 6 99921532 99921532 single base substitution G A intron_variant MELA-AU 6 99923163 99923163 single base substitution G A intron_variant MELA-AU 6 99924084 99924084 single base substitution G A 3_prime_UTR_variant MELA-AU 6 99924084 99924084 single base substitution G A exon_variant MELA-AU 6 99924084 99924084 single base substitution G A stop_gained Q28* 82C>T MELA-AU 6 99924084 99924084 single base substitution G A stop_gained Q290* 868C>T MELA-AU 6 99924084 99924084 single base substitution G A stop_gained Q46* 136C>T MELA-AU 6 99924084 99924084 single base substitution G A upstream_gene_variant MELA-AU 6 99926416 99926416 single base substitution G A downstream_gene_variant MELA-AU 6 99926416 99926416 single base substitution G A intron_variant MELA-AU 6 99926416 99926416 single base substitution G A upstream_gene_variant MELA-AU 6 99927650 99927650 single base substitution G C downstream_gene_variant MELA-AU 6 99927650 99927650 single base substitution G C intron_variant MELA-AU 6 99927650 99927650 single base substitution G C upstream_gene_variant MELA-AU 6 99927846 99927846 single base substitution C T downstream_gene_variant MELA-AU 6 99927846 99927846 single base substitution C T intron_variant MELA-AU 6 99927846 99927846 single base substitution C T upstream_gene_variant MELA-AU 6 99929062 99929062 single base substitution G C downstream_gene_variant MELA-AU 6 99929062 99929062 single base substitution G C intron_variant MELA-AU 6 99929062 99929062 single base substitution G C upstream_gene_variant MELA-AU 6 99931269 99931269 single base substitution C T intron_variant MELA-AU 6 99931269 99931269 single base substitution C T upstream_gene_variant MELA-AU 6 99931321 99931321 single base substitution G A intron_variant MELA-AU 6 99931321 99931321 single base substitution G A upstream_gene_variant MELA-AU 6 99931410 99931410 single base substitution G A intron_variant MELA-AU 6 99931410 99931410 single base substitution G A upstream_gene_variant MELA-AU 6 99931880 99931880 single base substitution G A intron_variant MELA-AU 6 99931880 99931880 single base substitution G A upstream_gene_variant MELA-AU 6 99932228 99932228 single base substitution G A intron_variant MELA-AU 6 99932228 99932228 single base substitution G A upstream_gene_variant MELA-AU 6 99935590 99935590 single base substitution A G intron_variant MELA-AU 6 99935590 99935590 single base substitution A G upstream_gene_variant MELA-AU 6 99936538 99936538 single base substitution G A intron_variant MELA-AU 6 99937162 99937162 single base substitution T C intron_variant MELA-AU 6 99938292 99938292 single base substitution G A intron_variant MELA-AU 6 99938743 99938743 single base substitution G A intron_variant MELA-AU 6 99938918 99938918 single base substitution G A intron_variant MELA-AU 6 99939991 99939991 single base substitution C T intron_variant MELA-AU 6 99940803 99940803 single base substitution A C intron_variant MELA-AU 6 99941397 99941397 single base substitution G A intron_variant MELA-AU 6 99942473 99942473 single base substitution T A intron_variant MELA-AU 6 99943438 99943438 single base substitution G A intron_variant MELA-AU 6 99944994 99944994 single base substitution G A downstream_gene_variant MELA-AU 6 99944994 99944994 single base substitution G A intron_variant MELA-AU 6 99945207 99945207 single base substitution C T downstream_gene_variant MELA-AU 6 99945207 99945207 single base substitution C T intron_variant MELA-AU 6 99945743 99945743 single base substitution C T downstream_gene_variant MELA-AU 6 99945743 99945743 single base substitution C T intron_variant MELA-AU 6 99946678 99946678 single base substitution G A downstream_gene_variant MELA-AU 6 99946678 99946678 single base substitution G A intron_variant MELA-AU 6 99947629 99947629 single base substitution C A downstream_gene_variant MELA-AU 6 99947629 99947629 single base substitution C A intron_variant MELA-AU 6 99948617 99948617 single base substitution C G downstream_gene_variant MELA-AU 6 99948617 99948617 single base substitution C G intron_variant MELA-AU 6 99948975 99948975 single base substitution T A downstream_gene_variant MELA-AU 6 99948975 99948975 single base substitution T A intron_variant MELA-AU 6 99951783 99951783 single base substitution C T downstream_gene_variant MELA-AU 6 99951783 99951783 single base substitution C T intron_variant MELA-AU 6 99951783 99951783 single base substitution C T upstream_gene_variant MELA-AU 6 99951930 99951930 single base substitution T C downstream_gene_variant MELA-AU 6 99951930 99951930 single base substitution T C intron_variant MELA-AU 6 99951930 99951930 single base substitution T C upstream_gene_variant MELA-AU 6 99952111 99952111 single base substitution G A downstream_gene_variant MELA-AU 6 99952111 99952111 single base substitution G A intron_variant MELA-AU 6 99952111 99952111 single base substitution G A upstream_gene_variant MELA-AU 6 99953434 99953434 single base substitution C T downstream_gene_variant MELA-AU 6 99953434 99953434 single base substitution C T intron_variant MELA-AU 6 99953434 99953434 single base substitution C T upstream_gene_variant MELA-AU 6 99953724 99953724 single base substitution C T downstream_gene_variant MELA-AU 6 99953724 99953724 single base substitution C T intron_variant MELA-AU 6 99953724 99953724 single base substitution C T upstream_gene_variant MELA-AU 6 99955435 99955435 single base substitution A G downstream_gene_variant MELA-AU 6 99955435 99955435 single base substitution A G intron_variant MELA-AU 6 99955435 99955435 single base substitution A G upstream_gene_variant MELA-AU 6 99955927 99955927 single base substitution G T downstream_gene_variant MELA-AU 6 99955927 99955927 single base substitution G T intron_variant MELA-AU 6 99955927 99955927 single base substitution G T upstream_gene_variant MELA-AU 6 99956738 99956738 single base substitution T A intron_variant MELA-AU 6 99956738 99956738 single base substitution T A upstream_gene_variant MELA-AU 6 99959549 99959549 single base substitution G A intron_variant MELA-AU 6 99959549 99959549 single base substitution G A upstream_gene_variant MELA-AU 6 99960413 99960413 single base substitution T G intron_variant MELA-AU 6 99960413 99960413 single base substitution T G upstream_gene_variant MELA-AU 6 99960764 99960764 single base substitution C A intron_variant MELA-AU 6 99960764 99960764 single base substitution C A upstream_gene_variant MELA-AU 6 99961275 99961275 single base substitution G A intron_variant MELA-AU 6 99961275 99961275 single base substitution G A upstream_gene_variant MELA-AU 6 99962609 99962609 single base substitution G C intron_variant MELA-AU 6 99962609 99962609 single base substitution G C upstream_gene_variant MELA-AU 6 99963128 99963128 single base substitution G A 5_prime_UTR_variant MELA-AU 6 99963128 99963128 single base substitution G A intron_variant MELA-AU 6 99963681 99963681 single base substitution C T intron_variant MELA-AU 6 99963681 99963681 single base substitution C T upstream_gene_variant MELA-AU 6 99963985 99963985 single base substitution T C intron_variant MELA-AU 6 99963985 99963985 single base substitution T C upstream_gene_variant MELA-AU 6 99964793 99964793 single base substitution G A intron_variant MELA-AU 6 99964793 99964793 single base substitution G A upstream_gene_variant MELA-AU 6 99965438 99965438 single base substitution G A intron_variant MELA-AU 6 99965438 99965438 single base substitution G A upstream_gene_variant MELA-AU 6 99965444 99965444 single base substitution G A intron_variant MELA-AU 6 99965444 99965444 single base substitution G A upstream_gene_variant MELA-AU 6 99965703 99965703 single base substitution G A intron_variant MELA-AU 6 99965703 99965703 single base substitution G A upstream_gene_variant MELA-AU 6 99965888 99965888 single base substitution G A intron_variant MELA-AU 6 99965888 99965888 single base substitution G A upstream_gene_variant MELA-AU 6 99966145 99966145 single base substitution C T intron_variant MELA-AU 6 99966145 99966145 single base substitution C T upstream_gene_variant MELA-AU 6 99966201 99966201 single base substitution G A intron_variant MELA-AU 6 99966201 99966201 single base substitution G A upstream_gene_variant MELA-AU 6 99966603 99966603 single base substitution T G intron_variant MELA-AU 6 99966603 99966603 single base substitution T G upstream_gene_variant MELA-AU 6 99966884 99966884 single base substitution G A intron_variant MELA-AU 6 99966884 99966884 single base substitution G A upstream_gene_variant MELA-AU 6 99967232 99967232 single base substitution C T intron_variant MELA-AU 6 99967232 99967232 single base substitution C T upstream_gene_variant MELA-AU 6 99967467 99967467 single base substitution G A intron_variant MELA-AU 6 99967467 99967467 single base substitution G A upstream_gene_variant MELA-AU 6 99968850 99968850 single base substitution T A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 6 99968852 99968852 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 6 99968861 99968861 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 6 99968870 99968870 single base substitution G A 5_prime_UTR_variant MELA-AU 6 99968904 99968905 multiple base substitution (>=2bp and <=200bp) AA CC 5_prime_UTR_variant MELA-AU 6 99968910 99968910 single base substitution T C 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 6 99970636 99970636 single base substitution G C upstream_gene_variant MELA-AU 6 99972433 99972433 single base substitution C T upstream_gene_variant MELA-AU 6 99972735 99972736 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 6 99973090 99973090 single base substitution G A upstream_gene_variant MELA-AU 6 99973152 99973152 single base substitution G C upstream_gene_variant MELA-AU 6 99973206 99973206 single base substitution A T upstream_gene_variant ORCA-IN 6 99938737 99938737 single base substitution C T intron_variant ORCA-IN 6 99944576 99944576 single base substitution T C intron_variant ORCA-IN 6 99966897 99966897 deletion of <=200bp G - intron_variant ORCA-IN 6 99966897 99966897 deletion of <=200bp G - upstream_gene_variant OV-AU 6 99889542 99889542 single base substitution T G downstream_gene_variant OV-AU 6 99889542 99889542 single base substitution T G intron_variant OV-AU 6 99894504 99894504 single base substitution C A intron_variant OV-AU 6 99895399 99895399 single base substitution T C intron_variant OV-AU 6 99904135 99904135 single base substitution T C intron_variant OV-AU 6 99919104 99919104 single base substitution G C intron_variant OV-AU 6 99922291 99922291 single base substitution C G intron_variant OV-AU 6 99926680 99926680 single base substitution T C downstream_gene_variant OV-AU 6 99926680 99926680 single base substitution T C intron_variant OV-AU 6 99926680 99926680 single base substitution T C upstream_gene_variant OV-AU 6 99930290 99930290 single base substitution T A 3_prime_UTR_variant OV-AU 6 99930290 99930290 single base substitution T A downstream_gene_variant OV-AU 6 99930290 99930290 single base substitution T A intron_variant OV-AU 6 99936177 99936177 single base substitution A T splice_region_variant OV-AU 6 99946752 99946752 single base substitution A C downstream_gene_variant OV-AU 6 99946752 99946752 single base substitution A C intron_variant OV-AU 6 99947015 99947015 single base substitution C T downstream_gene_variant OV-AU 6 99947015 99947015 single base substitution C T intron_variant OV-AU 6 99952211 99952211 single base substitution T A downstream_gene_variant OV-AU 6 99952211 99952211 single base substitution T A intron_variant OV-AU 6 99952211 99952211 single base substitution T A upstream_gene_variant OV-AU 6 99956304 99956304 single base substitution C G downstream_gene_variant OV-AU 6 99956304 99956304 single base substitution C G intron_variant OV-AU 6 99956304 99956304 single base substitution C G upstream_gene_variant OV-AU 6 99957520 99957520 single base substitution G C intron_variant OV-AU 6 99957520 99957520 single base substitution G C upstream_gene_variant OV-AU 6 99957879 99957879 single base substitution G C intron_variant OV-AU 6 99957879 99957879 single base substitution G C upstream_gene_variant OV-AU 6 99960471 99960471 single base substitution T G intron_variant OV-AU 6 99960471 99960471 single base substitution T G upstream_gene_variant OV-AU 6 99960547 99960547 single base substitution C A intron_variant OV-AU 6 99960547 99960547 single base substitution C A upstream_gene_variant OV-AU 6 99969055 99969055 single base substitution G A intron_variant OV-AU 6 99969544 99969544 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant OV-AU 6 99969865 99969865 single base substitution G C upstream_gene_variant OV-AU 6 99973264 99973264 single base substitution C G upstream_gene_variant PACA-AU 6 99877168 99877168 single base substitution A T downstream_gene_variant PACA-AU 6 99878434 99878434 single base substitution A T downstream_gene_variant PACA-AU 6 99881220 99881222 deletion of <=200bp TGA - 3_prime_UTR_variant PACA-AU 6 99881220 99881222 deletion of <=200bp TGA - downstream_gene_variant PACA-AU 6 99882698 99882698 single base substitution C T 3_prime_UTR_variant PACA-AU 6 99882698 99882698 single base substitution C T downstream_gene_variant PACA-AU 6 99882974 99882974 single base substitution G A 3_prime_UTR_variant PACA-AU 6 99882974 99882974 single base substitution G A downstream_gene_variant PACA-AU 6 99882988 99882988 single base substitution T A 3_prime_UTR_variant PACA-AU 6 99882988 99882988 single base substitution T A downstream_gene_variant PACA-AU 6 99885270 99885270 single base substitution T A 3_prime_UTR_variant PACA-AU 6 99885270 99885270 single base substitution T A synonymous_variant A15A 45A>T PACA-AU 6 99885270 99885270 single base substitution T A synonymous_variant A402A 1206A>T PACA-AU 6 99885270 99885270 single base substitution T A synonymous_variant A674A 2022A>T PACA-AU 6 99885270 99885270 single base substitution T A synonymous_variant A722A 2166A>T PACA-AU 6 99888852 99888852 deletion of <=200bp T - downstream_gene_variant PACA-AU 6 99888852 99888852 deletion of <=200bp T - intron_variant PACA-AU 6 99889173 99889173 single base substitution C T downstream_gene_variant PACA-AU 6 99889173 99889173 single base substitution C T intron_variant PACA-AU 6 99890536 99890536 single base substitution G A downstream_gene_variant PACA-AU 6 99890536 99890536 single base substitution G A intron_variant PACA-AU 6 99898152 99898152 single base substitution T A intron_variant PACA-AU 6 99900811 99900811 single base substitution C A intron_variant PACA-AU 6 99901294 99901294 deletion of <=200bp C - intron_variant PACA-AU 6 99902189 99902192 deletion of <=200bp AGAT - intron_variant PACA-AU 6 99910086 99910086 single base substitution T A downstream_gene_variant PACA-AU 6 99910086 99910086 single base substitution T A intron_variant PACA-AU 6 99911074 99911074 deletion of <=200bp A - downstream_gene_variant PACA-AU 6 99911074 99911074 deletion of <=200bp A - intron_variant PACA-AU 6 99918261 99918261 single base substitution C T intron_variant PACA-AU 6 99919268 99919268 single base substitution G T intron_variant PACA-AU 6 99922263 99922263 single base substitution A G intron_variant PACA-AU 6 99926442 99926442 single base substitution C T downstream_gene_variant PACA-AU 6 99926442 99926442 single base substitution C T intron_variant PACA-AU 6 99926442 99926442 single base substitution C T upstream_gene_variant PACA-AU 6 99926760 99926760 single base substitution C T downstream_gene_variant PACA-AU 6 99926760 99926760 single base substitution C T intron_variant PACA-AU 6 99926760 99926760 single base substitution C T upstream_gene_variant PACA-AU 6 99926882 99926884 deletion of <=200bp CAA - downstream_gene_variant PACA-AU 6 99926882 99926884 deletion of <=200bp CAA - intron_variant PACA-AU 6 99926882 99926884 deletion of <=200bp CAA - upstream_gene_variant PACA-AU 6 99936083 99936083 single base substitution G A exon_variant PACA-AU 6 99936083 99936083 single base substitution G A missense_variant L18F 52C>T PACA-AU 6 99936083 99936083 single base substitution G A missense_variant S236F 707C>T PACA-AU 6 99936290 99936290 single base substitution A G intron_variant PACA-AU 6 99936334 99936334 single base substitution G T intron_variant PACA-AU 6 99940925 99940925 single base substitution G A intron_variant PACA-AU 6 99941047 99941047 single base substitution C T intron_variant PACA-AU 6 99957692 99957692 single base substitution C G intron_variant PACA-AU 6 99957692 99957692 single base substitution C G upstream_gene_variant PACA-AU 6 99960339 99960339 single base substitution G T intron_variant PACA-AU 6 99960339 99960339 single base substitution G T upstream_gene_variant PACA-AU 6 99963364 99963364 single base substitution C T 5_prime_UTR_variant PACA-AU 6 99963364 99963364 single base substitution C T intron_variant PACA-AU 6 99963364 99963364 single base substitution C T upstream_gene_variant PACA-AU 6 99966999 99966999 single base substitution T A intron_variant PACA-AU 6 99966999 99966999 single base substitution T A upstream_gene_variant PACA-AU 6 99968749 99968749 deletion of <=200bp A - intron_variant PACA-CA 6 99878765 99878765 single base substitution C T downstream_gene_variant PACA-CA 6 99878766 99878766 single base substitution G A downstream_gene_variant PACA-CA 6 99879029 99879029 single base substitution C T downstream_gene_variant PACA-CA 6 99881659 99881659 single base substitution T C 3_prime_UTR_variant PACA-CA 6 99881659 99881659 single base substitution T C downstream_gene_variant PACA-CA 6 99886960 99886960 single base substitution T G intron_variant PACA-CA 6 99897804 99897804 single base substitution C G intron_variant PACA-CA 6 99901271 99901271 single base substitution C A intron_variant PACA-CA 6 99903624 99903624 single base substitution T C intron_variant PACA-CA 6 99905141 99905141 single base substitution G C intron_variant PACA-CA 6 99927034 99927035 deletion of <=200bp AT - downstream_gene_variant PACA-CA 6 99927034 99927035 deletion of <=200bp AT - intron_variant PACA-CA 6 99927034 99927035 deletion of <=200bp AT - upstream_gene_variant PACA-CA 6 99928387 99928387 single base substitution A G downstream_gene_variant PACA-CA 6 99928387 99928387 single base substitution A G intron_variant PACA-CA 6 99928387 99928387 single base substitution A G upstream_gene_variant PACA-CA 6 99928686 99928686 single base substitution G A downstream_gene_variant PACA-CA 6 99928686 99928686 single base substitution G A intron_variant PACA-CA 6 99928686 99928686 single base substitution G A upstream_gene_variant PACA-CA 6 99930499 99930499 single base substitution A C 3_prime_UTR_variant PACA-CA 6 99930499 99930499 single base substitution A C intron_variant PACA-CA 6 99932097 99932097 single base substitution G A intron_variant PACA-CA 6 99932097 99932097 single base substitution G A upstream_gene_variant PACA-CA 6 99934854 99934854 single base substitution G A intron_variant PACA-CA 6 99934854 99934854 single base substitution G A upstream_gene_variant PACA-CA 6 99946947 99946947 single base substitution A G downstream_gene_variant PACA-CA 6 99946947 99946947 single base substitution A G intron_variant PACA-CA 6 99954984 99954984 single base substitution G A downstream_gene_variant PACA-CA 6 99954984 99954984 single base substitution G A intron_variant PACA-CA 6 99954984 99954984 single base substitution G A upstream_gene_variant PACA-CA 6 99955641 99955641 single base substitution C T downstream_gene_variant PACA-CA 6 99955641 99955641 single base substitution C T intron_variant PACA-CA 6 99955641 99955641 single base substitution C T upstream_gene_variant PACA-CA 6 99958908 99958908 single base substitution A G intron_variant PACA-CA 6 99958908 99958908 single base substitution A G upstream_gene_variant PACA-CA 6 99963747 99963747 single base substitution T A intron_variant PACA-CA 6 99963747 99963747 single base substitution T A upstream_gene_variant PACA-CA 6 99971586 99971586 single base substitution T G upstream_gene_variant PACA-CA 6 99973364 99973364 insertion of <=200bp - T upstream_gene_variant PACA-CA 6 99973584 99973584 single base substitution G A upstream_gene_variant PAEN-AU 6 99956730 99956730 deletion of <=200bp C - intron_variant PAEN-AU 6 99956730 99956730 deletion of <=200bp C - upstream_gene_variant PAEN-AU 6 99966503 99966503 single base substitution G T intron_variant PAEN-AU 6 99966503 99966503 single base substitution G T upstream_gene_variant PAEN-AU 6 99969913 99969913 single base substitution G T upstream_gene_variant PAEN-IT 6 99891381 99891381 single base substitution T C downstream_gene_variant PAEN-IT 6 99891381 99891381 single base substitution T C intron_variant PAEN-IT 6 99893988 99893988 single base substitution C G 3_prime_UTR_variant PAEN-IT 6 99893988 99893988 single base substitution C G exon_variant PAEN-IT 6 99893988 99893988 single base substitution C G intron_variant PAEN-IT 6 99893988 99893988 single base substitution C G missense_variant E234Q 700G>C PAEN-IT 6 99893988 99893988 single base substitution C G missense_variant E506Q 1516G>C PAEN-IT 6 99893988 99893988 single base substitution C G missense_variant E554Q 1660G>C PAEN-IT 6 99915009 99915009 single base substitution C A intron_variant PAEN-IT 6 99915009 99915009 single base substitution C A upstream_gene_variant PBCA-DE 6 99888606 99888606 insertion of <=200bp - T intron_variant PBCA-DE 6 99892269 99892269 single base substitution T G downstream_gene_variant PBCA-DE 6 99892269 99892269 single base substitution T G intron_variant PBCA-DE 6 99895264 99895264 single base substitution A C intron_variant PBCA-DE 6 99914880 99914880 single base substitution C A intron_variant PBCA-DE 6 99914880 99914880 single base substitution C A upstream_gene_variant PBCA-DE 6 99922047 99922047 single base substitution G A intron_variant PBCA-DE 6 99925430 99925430 single base substitution C A downstream_gene_variant PBCA-DE 6 99925430 99925430 single base substitution C A intron_variant PBCA-DE 6 99925430 99925430 single base substitution C A upstream_gene_variant PBCA-DE 6 99954392 99954392 single base substitution C T downstream_gene_variant PBCA-DE 6 99954392 99954392 single base substitution C T intron_variant PBCA-DE 6 99954392 99954392 single base substitution C T upstream_gene_variant PBCA-DE 6 99963726 99963728 deletion of <=200bp CTG - intron_variant PBCA-DE 6 99963726 99963728 deletion of <=200bp CTG - upstream_gene_variant PBCA-DE 6 99964871 99964871 single base substitution C T intron_variant PBCA-DE 6 99964871 99964871 single base substitution C T upstream_gene_variant PBCA-DE 6 99965320 99965320 insertion of <=200bp - T intron_variant PBCA-DE 6 99965320 99965320 insertion of <=200bp - T upstream_gene_variant PBCA-DE 6 99967046 99967046 single base substitution T C intron_variant PBCA-DE 6 99967046 99967046 single base substitution T C upstream_gene_variant PBCA-DE 6 99970483 99970486 deletion of <=200bp CCCA - upstream_gene_variant PRAD-CA 6 99882964 99882964 single base substitution G A 3_prime_UTR_variant PRAD-CA 6 99882964 99882964 single base substitution G A downstream_gene_variant PRAD-CA 6 99885572 99885572 single base substitution T C intron_variant PRAD-CA 6 99918045 99918045 single base substitution T C intron_variant PRAD-CA 6 99927041 99927041 single base substitution C T downstream_gene_variant PRAD-CA 6 99927041 99927041 single base substitution C T intron_variant PRAD-CA 6 99927041 99927041 single base substitution C T upstream_gene_variant PRAD-CA 6 99969685 99969685 single base substitution T G upstream_gene_variant PRAD-UK 6 99878086 99878086 single base substitution G A downstream_gene_variant PRAD-UK 6 99879599 99879599 deletion of <=200bp T - downstream_gene_variant PRAD-UK 6 99887033 99887033 single base substitution C A intron_variant PRAD-UK 6 99918382 99918382 single base substitution A G intron_variant PRAD-UK 6 99921645 99921645 single base substitution A C intron_variant PRAD-UK 6 99940701 99940701 single base substitution T C intron_variant PRAD-UK 6 99965802 99965802 single base substitution G A intron_variant PRAD-UK 6 99965802 99965802 single base substitution G A upstream_gene_variant PRAD-UK 6 99967164 99967164 insertion of <=200bp - T intron_variant PRAD-UK 6 99967164 99967164 insertion of <=200bp - T upstream_gene_variant PRAD-US 6 99885247 99885247 single base substitution T C 3_prime_UTR_variant PRAD-US 6 99885247 99885247 single base substitution T C missense_variant Y23C 68A>G PRAD-US 6 99885247 99885247 single base substitution T C missense_variant Y410C 1229A>G PRAD-US 6 99885247 99885247 single base substitution T C missense_variant Y682C 2045A>G PRAD-US 6 99885247 99885247 single base substitution T C missense_variant Y730C 2189A>G PRAD-US 6 99955361 99955361 single base substitution T C 5_prime_UTR_variant PRAD-US 6 99955361 99955361 single base substitution T C downstream_gene_variant PRAD-US 6 99955361 99955361 single base substitution T C exon_variant PRAD-US 6 99955361 99955361 single base substitution T C missense_variant K107R 320A>G PRAD-US 6 99955361 99955361 single base substitution T C upstream_gene_variant READ-US 6 99951735 99951735 single base substitution A C 5_prime_UTR_variant READ-US 6 99951735 99951735 single base substitution A C downstream_gene_variant READ-US 6 99951735 99951735 single base substitution A C exon_variant READ-US 6 99951735 99951735 single base substitution A C stop_gained Y128* 384T>G READ-US 6 99951735 99951735 single base substitution A C upstream_gene_variant RECA-EU 6 99885875 99885875 single base substitution T C intron_variant RECA-EU 6 99909118 99909118 single base substitution C T downstream_gene_variant RECA-EU 6 99909118 99909118 single base substitution C T intron_variant RECA-EU 6 99922684 99922684 single base substitution T C intron_variant SKCA-BR 6 99876728 99876728 insertion of <=200bp - CT downstream_gene_variant SKCA-BR 6 99876728 99876728 insertion of <=200bp - CTTT downstream_gene_variant SKCA-BR 6 99877887 99877887 single base substitution C T downstream_gene_variant SKCA-BR 6 99879007 99879007 single base substitution G A downstream_gene_variant SKCA-BR 6 99882810 99882810 single base substitution G A 3_prime_UTR_variant SKCA-BR 6 99882810 99882810 single base substitution G A downstream_gene_variant SKCA-BR 6 99895042 99895042 single base substitution G A intron_variant SKCA-BR 6 99899269 99899269 single base substitution G A intron_variant SKCA-BR 6 99904010 99904011 deletion of <=200bp GA - intron_variant SKCA-BR 6 99907840 99907840 single base substitution C T downstream_gene_variant SKCA-BR 6 99907840 99907840 single base substitution C T intron_variant SKCA-BR 6 99908538 99908538 single base substitution C A downstream_gene_variant SKCA-BR 6 99908538 99908538 single base substitution C A intron_variant SKCA-BR 6 99910863 99910863 single base substitution T A downstream_gene_variant SKCA-BR 6 99910863 99910863 single base substitution T A intron_variant SKCA-BR 6 99911480 99911480 single base substitution G A downstream_gene_variant SKCA-BR 6 99911480 99911480 single base substitution G A intron_variant SKCA-BR 6 99912329 99912329 single base substitution T G downstream_gene_variant SKCA-BR 6 99912329 99912329 single base substitution T G intron_variant SKCA-BR 6 99913758 99913758 single base substitution G A intron_variant SKCA-BR 6 99913758 99913758 single base substitution G A upstream_gene_variant SKCA-BR 6 99919301 99919301 single base substitution T C intron_variant SKCA-BR 6 99920937 99920937 single base substitution A T intron_variant SKCA-BR 6 99921653 99921653 insertion of <=200bp - AACACACACACACACACAC intron_variant SKCA-BR 6 99926095 99926096 deletion of <=200bp TG - downstream_gene_variant SKCA-BR 6 99926095 99926096 deletion of <=200bp TG - intron_variant SKCA-BR 6 99926095 99926096 deletion of <=200bp TG - upstream_gene_variant SKCA-BR 6 99926104 99926104 single base substitution T G downstream_gene_variant SKCA-BR 6 99926104 99926104 single base substitution T G intron_variant SKCA-BR 6 99926104 99926104 single base substitution T G upstream_gene_variant SKCA-BR 6 99926885 99926885 insertion of <=200bp - CA downstream_gene_variant SKCA-BR 6 99926885 99926885 insertion of <=200bp - CA intron_variant SKCA-BR 6 99926885 99926885 insertion of <=200bp - CA upstream_gene_variant SKCA-BR 6 99931321 99931321 single base substitution G A intron_variant SKCA-BR 6 99931321 99931321 single base substitution G A upstream_gene_variant SKCA-BR 6 99931571 99931571 single base substitution A G intron_variant SKCA-BR 6 99931571 99931571 single base substitution A G upstream_gene_variant SKCA-BR 6 99932732 99932733 deletion of <=200bp AT - intron_variant SKCA-BR 6 99932732 99932733 deletion of <=200bp AT - upstream_gene_variant SKCA-BR 6 99932954 99932954 single base substitution C T intron_variant SKCA-BR 6 99932954 99932954 single base substitution C T upstream_gene_variant SKCA-BR 6 99933051 99933051 insertion of <=200bp - CA intron_variant SKCA-BR 6 99933051 99933051 insertion of <=200bp - CA upstream_gene_variant SKCA-BR 6 99937831 99937831 insertion of <=200bp - GA intron_variant SKCA-BR 6 99944101 99944101 single base substitution C T intron_variant SKCA-BR 6 99952256 99952256 single base substitution T C downstream_gene_variant SKCA-BR 6 99952256 99952256 single base substitution T C intron_variant SKCA-BR 6 99952256 99952256 single base substitution T C upstream_gene_variant SKCA-BR 6 99959710 99959714 deletion of <=200bp TGTGA - intron_variant SKCA-BR 6 99959710 99959714 deletion of <=200bp TGTGA - upstream_gene_variant SKCA-BR 6 99960433 99960433 single base substitution G A intron_variant SKCA-BR 6 99960433 99960433 single base substitution G A upstream_gene_variant SKCA-BR 6 99960699 99960699 single base substitution C T intron_variant SKCA-BR 6 99960699 99960699 single base substitution C T upstream_gene_variant SKCA-BR 6 99961027 99961027 single base substitution C T intron_variant SKCA-BR 6 99961027 99961027 single base substitution C T upstream_gene_variant SKCA-BR 6 99961179 99961179 single base substitution C T intron_variant SKCA-BR 6 99961179 99961179 single base substitution C T upstream_gene_variant SKCA-BR 6 99965477 99965477 insertion of <=200bp - AT intron_variant SKCA-BR 6 99965477 99965477 insertion of <=200bp - AT upstream_gene_variant SKCA-BR 6 99965761 99965761 single base substitution C T intron_variant SKCA-BR 6 99965761 99965761 single base substitution C T upstream_gene_variant SKCA-BR 6 99971318 99971319 deletion of <=200bp CA - upstream_gene_variant SKCA-BR 6 99971948 99971951 deletion of <=200bp GATA - upstream_gene_variant SKCM-US 6 99883615 99883615 single base substitution G A 3_prime_UTR_variant SKCM-US 6 99883615 99883615 single base substitution G A missense_variant L101F 301C>T SKCM-US 6 99883615 99883615 single base substitution G A missense_variant L488F 1462C>T SKCM-US 6 99883615 99883615 single base substitution G A missense_variant L760F 2278C>T SKCM-US 6 99883615 99883615 single base substitution G A missense_variant L808F 2422C>T SKCM-US 6 99885165 99885165 single base substitution G A 3_prime_UTR_variant SKCM-US 6 99885165 99885165 single base substitution G A synonymous_variant S437S 1311C>T SKCM-US 6 99885165 99885165 single base substitution G A synonymous_variant S50S 150C>T SKCM-US 6 99885165 99885165 single base substitution G A synonymous_variant S709S 2127C>T SKCM-US 6 99885165 99885165 single base substitution G A synonymous_variant S757S 2271C>T SKCM-US 6 99893858 99893858 single base substitution G C 3_prime_UTR_variant SKCM-US 6 99893858 99893858 single base substitution G C exon_variant SKCM-US 6 99893858 99893858 single base substitution G C intron_variant SKCM-US 6 99893858 99893858 single base substitution G C missense_variant S277C 830C>G SKCM-US 6 99893858 99893858 single base substitution G C missense_variant S549C 1646C>G SKCM-US 6 99893858 99893858 single base substitution G C missense_variant S597C 1790C>G SKCM-US 6 99894074 99894074 single base substitution C T 3_prime_UTR_variant SKCM-US 6 99894074 99894074 single base substitution C T exon_variant SKCM-US 6 99894074 99894074 single base substitution C T intron_variant SKCM-US 6 99894074 99894074 single base substitution C T missense_variant G205E 614G>A SKCM-US 6 99894074 99894074 single base substitution C T missense_variant G477E 1430G>A SKCM-US 6 99894074 99894074 single base substitution C T missense_variant G525E 1574G>A SKCM-US 6 99894322 99894322 single base substitution G A 3_prime_UTR_variant SKCM-US 6 99894322 99894322 single base substitution G A exon_variant SKCM-US 6 99894322 99894322 single base substitution G A intron_variant SKCM-US 6 99894322 99894322 single base substitution G A synonymous_variant D122D 366C>T SKCM-US 6 99894322 99894322 single base substitution G A synonymous_variant D394D 1182C>T SKCM-US 6 99894322 99894322 single base substitution G A synonymous_variant D442D 1326C>T SKCM-US 6 99958081 99958081 single base substitution G A 5_prime_UTR_variant SKCM-US 6 99958081 99958081 single base substitution G A exon_variant SKCM-US 6 99958081 99958081 single base substitution G A missense_variant P6S 16C>T SKCM-US 6 99958081 99958081 single base substitution G A upstream_gene_variant STAD-US 6 99885256 99885256 single base substitution T G 3_prime_UTR_variant STAD-US 6 99885256 99885256 single base substitution T G missense_variant K20T 59A>C STAD-US 6 99885256 99885256 single base substitution T G missense_variant K407T 1220A>C STAD-US 6 99885256 99885256 single base substitution T G missense_variant K679T 2036A>C STAD-US 6 99885256 99885256 single base substitution T G missense_variant K727T 2180A>C STAD-US 6 99891518 99891518 single base substitution A C 3_prime_UTR_variant STAD-US 6 99891518 99891518 single base substitution A C 5_prime_UTR_premature_start_codon_gain_variant STAD-US 6 99891518 99891518 single base substitution A C downstream_gene_variant STAD-US 6 99891518 99891518 single base substitution A C missense_variant Y346D 1036T>G STAD-US 6 99891518 99891518 single base substitution A C missense_variant Y618D 1852T>G STAD-US 6 99891518 99891518 single base substitution A C missense_variant Y666D 1996T>G STAD-US 6 99893879 99893879 deletion of <=200bp A - 3_prime_UTR_variant STAD-US 6 99893879 99893879 deletion of <=200bp A - exon_variant STAD-US 6 99893879 99893879 deletion of <=200bp A - frameshift_variant L270 STAD-US 6 99893879 99893879 deletion of <=200bp A - frameshift_variant L542 STAD-US 6 99893879 99893879 deletion of <=200bp A - frameshift_variant L590 STAD-US 6 99893879 99893879 deletion of <=200bp A - intron_variant STAD-US 6 99894017 99894017 single base substitution T C 3_prime_UTR_variant STAD-US 6 99894017 99894017 single base substitution T C exon_variant STAD-US 6 99894017 99894017 single base substitution T C intron_variant STAD-US 6 99894017 99894017 single base substitution T C missense_variant Y224C 671A>G STAD-US 6 99894017 99894017 single base substitution T C missense_variant Y496C 1487A>G STAD-US 6 99894017 99894017 single base substitution T C missense_variant Y544C 1631A>G STAD-US 6 99894207 99894207 single base substitution G A 3_prime_UTR_variant STAD-US 6 99894207 99894207 single base substitution G A exon_variant STAD-US 6 99894207 99894207 single base substitution G A intron_variant STAD-US 6 99894207 99894207 single base substitution G A missense_variant R161C 481C>T STAD-US 6 99894207 99894207 single base substitution G A missense_variant R433C 1297C>T STAD-US 6 99894207 99894207 single base substitution G A missense_variant R481C 1441C>T STAD-US 6 99894246 99894246 deletion of <=200bp C - 3_prime_UTR_variant STAD-US 6 99894246 99894246 deletion of <=200bp C - exon_variant STAD-US 6 99894246 99894246 deletion of <=200bp C - frameshift_variant D148 STAD-US 6 99894246 99894246 deletion of <=200bp C - frameshift_variant D420 STAD-US 6 99894246 99894246 deletion of <=200bp C - frameshift_variant D468 STAD-US 6 99894246 99894246 deletion of <=200bp C - intron_variant STAD-US 6 99936572 99936572 deletion of <=200bp A - 5_prime_UTR_variant STAD-US 6 99936572 99936572 deletion of <=200bp A - exon_variant STAD-US 6 99936572 99936572 deletion of <=200bp A - frameshift_variant F201 STAD-US 6 99956514 99956514 single base substitution A C 5_prime_UTR_variant STAD-US 6 99956514 99956514 single base substitution A C downstream_gene_variant STAD-US 6 99956514 99956514 single base substitution A C exon_variant STAD-US 6 99956514 99956514 single base substitution A C missense_variant I82S 245T>G STAD-US 6 99956514 99956514 single base substitution A C upstream_gene_variant STAD-US 6 99956550 99956550 single base substitution C T 5_prime_UTR_variant STAD-US 6 99956550 99956550 single base substitution C T downstream_gene_variant STAD-US 6 99956550 99956550 single base substitution C T exon_variant STAD-US 6 99956550 99956550 single base substitution C T missense_variant R70K 209G>A STAD-US 6 99956550 99956550 single base substitution C T upstream_gene_variant STAD-US 6 99958034 99958034 single base substitution A G 5_prime_UTR_variant STAD-US 6 99958034 99958034 single base substitution A G exon_variant STAD-US 6 99958034 99958034 single base substitution A G synonymous_variant T21T 63T>C STAD-US 6 99958034 99958034 single base substitution A G upstream_gene_variant THCA-US 6 99924037 99924037 single base substitution C G 3_prime_UTR_variant THCA-US 6 99924037 99924037 single base substitution C G exon_variant THCA-US 6 99924037 99924037 single base substitution C G synonymous_variant V15V 45G>C THCA-US 6 99924037 99924037 single base substitution C G synonymous_variant V305V 915G>C THCA-US 6 99924037 99924037 single base substitution C G synonymous_variant V43V 129G>C THCA-US 6 99924037 99924037 single base substitution C G synonymous_variant V61V 183G>C UCEC-US 6 99883615 99883615 single base substitution G T 3_prime_UTR_variant UCEC-US 6 99883615 99883615 single base substitution G T missense_variant L101I 301C>A UCEC-US 6 99883615 99883615 single base substitution G T missense_variant L488I 1462C>A UCEC-US 6 99883615 99883615 single base substitution G T missense_variant L760I 2278C>A UCEC-US 6 99883615 99883615 single base substitution G T missense_variant L808I 2422C>A UCEC-US 6 99883677 99883677 single base substitution A C 3_prime_UTR_variant UCEC-US 6 99883677 99883677 single base substitution A C missense_variant V467G 1400T>G UCEC-US 6 99883677 99883677 single base substitution A C missense_variant V739G 2216T>G UCEC-US 6 99883677 99883677 single base substitution A C missense_variant V787G 2360T>G UCEC-US 6 99883677 99883677 single base substitution A C missense_variant V80G 239T>G UCEC-US 6 99891451 99891451 single base substitution C A 3_prime_UTR_variant UCEC-US 6 99891451 99891451 single base substitution C A 5_prime_UTR_variant UCEC-US 6 99891451 99891451 single base substitution C A downstream_gene_variant UCEC-US 6 99891451 99891451 single base substitution C A missense_variant R368I 1103G>T UCEC-US 6 99891451 99891451 single base substitution C A missense_variant R640I 1919G>T UCEC-US 6 99891451 99891451 single base substitution C A missense_variant R688I 2063G>T UCEC-US 6 99891489 99891489 single base substitution A C 3_prime_UTR_variant UCEC-US 6 99891489 99891489 single base substitution A C 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 6 99891489 99891489 single base substitution A C downstream_gene_variant UCEC-US 6 99891489 99891489 single base substitution A C missense_variant I355M 1065T>G UCEC-US 6 99891489 99891489 single base substitution A C missense_variant I627M 1881T>G UCEC-US 6 99891489 99891489 single base substitution A C missense_variant I675M 2025T>G UCEC-US 6 99893833 99893833 single base substitution C T 3_prime_UTR_variant UCEC-US 6 99893833 99893833 single base substitution C T downstream_gene_variant UCEC-US 6 99893833 99893833 single base substitution C T intron_variant UCEC-US 6 99893833 99893833 single base substitution C T synonymous_variant Q285Q 855G>A UCEC-US 6 99893833 99893833 single base substitution C T synonymous_variant Q557Q 1671G>A UCEC-US 6 99893833 99893833 single base substitution C T synonymous_variant Q605Q 1815G>A UCEC-US 6 99912964 99912964 single base substitution C A 3_prime_UTR_variant UCEC-US 6 99912964 99912964 single base substitution C A stop_gained E386* 1156G>T UCEC-US 6 99912964 99912964 single base substitution C A stop_gained E66* 196G>T UCEC-US 6 99912964 99912964 single base substitution C A stop_gained E84* 250G>T UCEC-US 6 99912964 99912964 single base substitution C A stop_gained E96* 286G>T UCEC-US 6 99912964 99912964 single base substitution C A upstream_gene_variant UCEC-US 6 99912980 99912980 single base substitution A C 3_prime_UTR_variant UCEC-US 6 99912980 99912980 single base substitution A C missense_variant I380M 1140T>G UCEC-US 6 99912980 99912980 single base substitution A C missense_variant I60M 180T>G UCEC-US 6 99912980 99912980 single base substitution A C missense_variant I78M 234T>G UCEC-US 6 99912980 99912980 single base substitution A C missense_variant I90M 270T>G UCEC-US 6 99912980 99912980 single base substitution A C upstream_gene_variant UCEC-US 6 99914615 99914615 single base substitution A G 3_prime_UTR_variant UCEC-US 6 99914615 99914615 single base substitution A G intron_variant UCEC-US 6 99914615 99914615 single base substitution A G missense_variant M347T 1040T>C UCEC-US 6 99914615 99914615 single base substitution A G missense_variant M57T 170T>C UCEC-US 6 99914615 99914615 single base substitution A G upstream_gene_variant UCEC-US 6 99914628 99914628 single base substitution C A 3_prime_UTR_variant UCEC-US 6 99914628 99914628 single base substitution C A intron_variant UCEC-US 6 99914628 99914628 single base substitution C A stop_gained E343* 1027G>T UCEC-US 6 99914628 99914628 single base substitution C A stop_gained E53* 157G>T UCEC-US 6 99914628 99914628 single base substitution C A upstream_gene_variant UCEC-US 6 99916422 99916422 single base substitution T C exon_variant UCEC-US 6 99916422 99916422 single base substitution T C intron_variant UCEC-US 6 99916422 99916422 single base substitution T C missense_variant K336E 1006A>G UCEC-US 6 99916422 99916422 single base substitution T C missense_variant K46E 136A>G UCEC-US 6 99916422 99916422 single base substitution T C upstream_gene_variant UCEC-US 6 99924021 99924021 single base substitution T G missense_variant K21Q 61A>C UCEC-US 6 99924021 99924021 single base substitution T G missense_variant K311Q 931A>C UCEC-US 6 99924021 99924021 single base substitution T G missense_variant K49Q 145A>C UCEC-US 6 99924021 99924021 single base substitution T G missense_variant K67Q 199A>C UCEC-US 6 99924021 99924021 single base substitution T G splice_region_variant UCEC-US 6 99930758 99930758 single base substitution T C intron_variant UCEC-US 6 99930758 99930758 single base substitution T C missense_variant D239G 716A>G UCEC-US 6 99930758 99930758 single base substitution T C splice_region_variant UCEC-US 6 99930758 99930758 single base substitution T C upstream_gene_variant UCEC-US 6 99936568 99936568 single base substitution C T 5_prime_UTR_variant UCEC-US 6 99936568 99936568 single base substitution C T exon_variant UCEC-US 6 99936568 99936568 single base substitution C T missense_variant A203T 607G>A UCEC-US 6 99936593 99936593 single base substitution A C 5_prime_UTR_variant UCEC-US 6 99936593 99936593 single base substitution A C exon_variant UCEC-US 6 99936593 99936593 single base substitution A C missense_variant N194K 582T>G UCEC-US 6 99936595 99936595 single base substitution T G 5_prime_UTR_variant UCEC-US 6 99936595 99936595 single base substitution T G exon_variant UCEC-US 6 99936595 99936595 single base substitution T G missense_variant N194H 580A>C UCEC-US 6 99936646 99936646 single base substitution C A 5_prime_UTR_variant UCEC-US 6 99936646 99936646 single base substitution C A exon_variant UCEC-US 6 99936646 99936646 single base substitution C A stop_gained E177* 529G>T UCEC-US 6 99956569 99956569 single base substitution C T 5_prime_UTR_variant UCEC-US 6 99956569 99956569 single base substitution C T downstream_gene_variant UCEC-US 6 99956569 99956569 single base substitution C T exon_variant UCEC-US 6 99956569 99956569 single base substitution C T missense_variant E64K 190G>A UCEC-US 6 99956569 99956569 single base substitution C T upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand EGC15 COSM5062009 c.1213C>T p.R405W Substitution - Missense 6:99464699-99464699 - TCGA-AM-5821-01 COSM3762232 c.1770A>G p.L590L Substitution - coding silent 6:99446002-99446002 - TCGA-BS-A0UL-01 COSM1082824 c.716A>G p.D239G Substitution - Missense 6:99482882-99482882 - TCGA-AP-A056-01 COSM1082819 c.1140T>G p.I380M Substitution - Missense 6:99465104-99465104 - TCGA-BS-A0UF-01 COSM1082811 c.2422C>A p.L808I Substitution - Missense 6:99435739-99435739 - PD4006a COSM3396799 c.1932T>A p.C644* Substitution - Nonsense 6:99445840-99445840 - WSU-HN13 COSM3080122 c.349A>G p.I117V Substitution - Missense 6:99507456-99507456 - CH-144-T2 COSM5650744 c.1736A>T p.Q579L Substitution - Missense 6:99446036-99446036 - 2497771 COSM5750377 c.714G>T p.L238L Substitution - coding silent 6:99488200-99488200 - B22 COSM1754380 c.1924G>A p.E642K Substitution - Missense 6:99445848-99445848 - T2269 COSM4739868 c.91G>T p.D31Y Substitution - Missense 6:99510130-99510130 - B22-Tumor COSM1754380 c.1924G>A p.E642K Substitution - Missense 6:99445848-99445848 - SNUH_G10_S1 COSM150143 c.2343A>G p.A781A Substitution - coding silent 6:99435818-99435818 - TCGA-EJ-7782-01 COSM3784019 c.2189A>G p.Y730C Substitution - Missense 6:99437371-99437371 - I2L-P19Ta-Tumor-Organoid COSM3080104 c.1082C>T p.T361M Substitution - Missense 6:99466697-99466697 - TCGA-FW-A3TU-06 COSM3630726 c.1574G>A p.G525E Substitution - Missense 6:99446198-99446198 - PD14435a COSM5790442 c.1852T>G p.C618G Substitution - Missense 6:99445920-99445920 - PD4203a COSM165449 c.520G>C p.E174Q Substitution - Missense 6:99488779-99488779 - TCGA-AP-A056-01 COSM1082812 c.2360T>G p.V787G Substitution - Missense 6:99435801-99435801 - T2197 COSM4739864 c.1291T>A p.S431T Substitution - Missense 6:99464621-99464621 - D8 COSM5007533 c.839G>A p.C280Y Substitution - Missense 6:99482759-99482759 - TCGA-D1-A176-01 COSM1082830 c.194G>A p.C65Y Substitution - Missense 6:99508689-99508689 - SNUH_G76_S1 COSM3762233 c.1562G>C p.R521T Substitution - Missense 6:99446210-99446210 - HCC2998 COSM3080125 c.124A>C p.S42R Substitution - Missense 6:99508759-99508759 - DLD1 COSM3080095 c.1918C>T p.L640L Substitution - coding silent 6:99445854-99445854 - SNU-175 COSM3080105 c.1080C>T p.S360S Substitution - coding silent 6:99466699-99466699 - LS411 COSM1439353 c.1769delT p.L590fs*1 Deletion - Frameshift 6:99446003-99446003 - sysucc-834T COSM3080118 c.408G>A p.T136T Substitution - coding silent 6:99503835-99503835 - 39 COSM150144 c.199A>G p.K67E Substitution - Missense 6:99508684-99508684 - TCGA-BQ-5891-01 COSM3995170 c.792G>T p.E264D Substitution - Missense 6:99482806-99482806 - HCT8 COSM3080095 c.1918C>T p.L640L Substitution - coding silent 6:99445854-99445854 - TCGA-BG-A0M4-01 COSM1082813 c.2072A>G p.Q691R Substitution - Missense 6:99443566-99443566 - 721LT COSM150144 c.199A>G p.K67E Substitution - Missense 6:99508684-99508684 - SNUH_G45_S1 COSM150143 c.2343A>G p.A781A Substitution - coding silent 6:99435818-99435818 - PD4006a COSM3396799 c.1932T>A p.C644* Substitution - Nonsense 6:99445840-99445840 - TCGA-EQ-5647-01 COSM3080099 c.1441C>T p.R481C Substitution - Missense 6:99446331-99446331 - TCGA-B0-4691-01 COSM3366628 c.863A>G p.D288G Substitution - Missense 6:99476213-99476213 - TCGA-B5-A0JY-01 COSM1082814 c.2063G>T p.R688I Substitution - Missense 6:99443575-99443575 - 66 COSM150144 c.199A>G p.K67E Substitution - Missense 6:99508684-99508684 - 587284 COSM1232083 c.611T>G p.V204G Substitution - Missense 6:99488688-99488688 - T3064 COSM4739865 c.630G>T p.Q210H Substitution - Missense 6:99488284-99488284 - ccRCC-64 COSM1664923 c.161T>C p.I54T Substitution - Missense 6:99508722-99508722 - PDA_070 COSM3762233 c.1562G>C p.R521T Substitution - Missense 6:99446210-99446210 - TCGA-C8-A26Y-01 COSM3831275 c.654G>A p.M218I Substitution - Missense 6:99488260-99488260 - TCGA-ET-A2MY-01 COSM3374412 c.915G>C p.V305V Substitution - coding silent 6:99476161-99476161 - TCGA-CG-5723-01 COSM3876304 c.245T>G p.I82S Substitution - Missense 6:99508638-99508638 - PD4006a COSM219333 c.1933A>C p.T645P Substitution - Missense 6:99445839-99445839 - TCGA-BS-A0UV-01 COSM1082827 c.580A>C p.N194H Substitution - Missense 6:99488719-99488719 - S02376 COSM5697248 c.433C>T p.Q145* Substitution - Nonsense 6:99503810-99503810 - MD-090 COSM303534 c.2316T>C p.G772G Substitution - coding silent 6:99435845-99435845 - TCGA-18-3421-01 COSM743745 c.451C>A p.Q151K Substitution - Missense 6:99503792-99503792 - PTC-14C COSM4004165 c.1710A>G p.G570G Substitution - coding silent 6:99446062-99446062 - TCGA-KV-A6GE-01 COSM3995169 c.1563A>G p.R521R Substitution - coding silent 6:99446209-99446209 - TCGA-EJ-7330-01 COSM1471964 c.320A>G p.K107R Substitution - Missense 6:99507485-99507485 - TCGA-B5-A0JY-01 COSM1082829 c.529G>T p.E177* Substitution - Nonsense 6:99488770-99488770 - MEL-Ma-Mel-48 COSM1167719 c.401delT p.L134fs*13 Deletion - Frameshift 6:99503842-99503842 - SNU-C4 COSM1439353 c.1769delT p.L590fs*1 Deletion - Frameshift 6:99446003-99446003 - TCGA-IR-A3LA-01 COSM4845550 c.1856C>T p.S619L Substitution - Missense 6:99445916-99445916 - TCGA-AG-3892-01 COSM258338 c.2068C>A p.H690N Substitution - Missense 6:99443570-99443570 - ITNET_0100_T COSM4963679 c.1660G>C p.E554Q Substitution - Missense 6:99446112-99446112 - PT38 COSM5922577 c.47G>A p.R16K Substitution - Missense 6:99510174-99510174 - MINO COSM1740946 c.1002delA p.V337fs*9 Deletion - Frameshift 6:99468550-99468550 - TCGA-BS-A0UF-01 COSM1082826 c.582T>G p.N194K Substitution - Missense 6:99488717-99488717 - TCGA-AA-3663-01 COSM1439358 c.801delA p.G268fs*38 Deletion - Frameshift 6:99482797-99482797 - PET100T COSM4963679 c.1660G>C p.E554Q Substitution - Missense 6:99446112-99446112 - XHDG38 COSM4769765 c.649C>G p.L217V Substitution - Missense 6:99488265-99488265 - BCM321T COSM4955243 c.2123T>C p.M708T Substitution - Missense 6:99439806-99439806 - TCGA-24-1474-01 COSM79093 c.1573G>T p.G525* Substitution - Nonsense 6:99446199-99446199 - sysucc-1050T COSM5765911 c.1147C>T p.P383S Substitution - Missense 6:99465097-99465097 - 35 COSM5016155 c.2231_2233delAAG p.E744delE Deletion - In frame 6:99437327-99437329 - CHC1746T COSM4787932 c.1462G>A p.D488N Substitution - Missense 6:99446310-99446310 - LUAD-CHTN-MAD06-00668 COSM360211 c.1298C>G p.S433C Substitution - Missense 6:99464614-99464614 - CHC1746T COSM4787932 c.1462G>A p.D488N Substitution - Missense 6:99446310-99446310 - TCGA-BR-8680-01 COSM3876302 c.1996T>G p.Y666D Substitution - Missense 6:99443642-99443642 - 8035591 COSM3394367 c.707C>T p.S236F Substitution - Missense 6:99488207-99488207 - CHC1746T COSM4787869 c.95T>A p.I32N Substitution - Missense 6:99510126-99510126 - TCGA-AP-A0LE-01 COSM1082817 c.1220C>T p.T407I Substitution - Missense 6:99464692-99464692 - I2L-P19Ta-Tumor-Organoid COSM1439353 c.1769delT p.L590fs*1 Deletion - Frameshift 6:99446003-99446003 - TCGA-BR-8680-01 COSM3876306 c.209G>A p.R70K Substitution - Missense 6:99508674-99508674 - TCGA-B5-A11E-01 COSM1082823 c.931A>C p.K311Q Substitution - Missense 6:99476145-99476145 - BCM321T COSM4955243 c.2123T>C p.M708T Substitution - Missense 6:99439806-99439806 - TCGA-AX-A05Z-01 COSM1082829 c.529G>T p.E177* Substitution - Nonsense 6:99488770-99488770 - TCGA-EE-A2GR-06 COSM173058 c.1326C>T p.D442D Substitution - coding silent 6:99446446-99446446 - TCGA-BH-A0B6-01 COSM3831274 c.2102G>A p.R701K Substitution - Missense 6:99439827-99439827 - TCGA-AD-6895-01 COSM1439354 c.1597C>T p.P533S Substitution - Missense 6:99446175-99446175 - TCGA-BH-A18J-01 COSM451963 c.520G>A p.E174K Substitution - Missense 6:99488779-99488779 - T3724 COSM4739866 c.102A>G p.V34V Substitution - coding silent 6:99508781-99508781 - GC8_T COSM150144 c.199A>G p.K67E Substitution - Missense 6:99508684-99508684 - TCGA-AP-A054-01 COSM1082820 c.1040T>C p.M347T Substitution - Missense 6:99466739-99466739 - TCGA-BR-4361-01 COSM3876303 c.1631A>G p.Y544C Substitution - Missense 6:99446141-99446141 - GC8_T COSM150143 c.2343A>G p.A781A Substitution - coding silent 6:99435818-99435818 - TCGA-14-1034 COSM2155225 c.805C>T p.P269S Substitution - Missense 6:99482793-99482793 - S01023 COSM5666730 c.883C>A p.Q295K Substitution - Missense 6:99476193-99476193 - TCGA-BS-A0UV-01 COSM1082822 c.1006A>G p.K336E Substitution - Missense 6:99468546-99468546 - TCGA-CA-6717-01 COSM1446580 c.2089C>T p.R697C Substitution - Missense 6:99439840-99439840 - TCGA-B5-A0JY-01 COSM1082818 c.1156G>T p.E386* Substitution - Nonsense 6:99465088-99465088 - TCGA-AP-A0LM-01 COSM1082815 c.2025T>G p.I675M Substitution - Missense 6:99443613-99443613 - TCGA-14-1034-02 COSM2155225 c.805C>T p.P269S Substitution - Missense 6:99482793-99482793 - Pat_41_B COSM5871273 c.1164+1G>A p.? Unknown 6:99465079-99465079 - 8036161 COSM3394366 c.2166A>T p.A722A Substitution - coding silent 6:99437394-99437394 - PT55 COSM5942090 c.1492G>A p.E498K Substitution - Missense 6:99446280-99446280 - BD121T COSM5515159 c.1033G>A p.V345M Substitution - Missense 6:99466746-99466746 - TCGA-BH-A18G-01 COSM3831273 c.2198A>G p.Y733C Substitution - Missense 6:99437362-99437362 - CSCC-27-T COSM4455550 c.817A>T p.K273* Substitution - Nonsense 6:99482781-99482781 - STC297 COSM3080098 c.1688G>A p.R563H Substitution - Missense 6:99446084-99446084 - ESCC_167 COSM5648638 c.1056G>A p.R352R Substitution - coding silent 6:99466723-99466723 - TCGA-BR-4256-01 COSM3876308 c.63T>C p.T21T Substitution - coding silent 6:99510158-99510158 - TCGA-A6-6140-01 COSM3762232 c.1770A>G p.L590L Substitution - coding silent 6:99446002-99446002 - TCGA-AM-5820-01 COSM3762233 c.1562G>C p.R521T Substitution - Missense 6:99446210-99446210 - BK0008 COSM4185695 c.1A>T p.M1L Substitution - Missense 6:99510220-99510220 - 25 COSM5011652 c.1294T>A p.S432T Substitution - Missense 6:99464618-99464618 - TCGA-A5-A0GB-01 COSM1082825 c.607G>A p.A203T Substitution - Missense 6:99488692-99488692 - CHC1746T COSM4787869 c.95T>A p.I32N Substitution - Missense 6:99510126-99510126 - PD4006a COSM3396799 c.1932T>A p.C644* Substitution - Nonsense 6:99445840-99445840 - I2L-P19Ta-Tumor-Biopsy COSM1439353 c.1769delT p.L590fs*1 Deletion - Frameshift 6:99446003-99446003 - PD4006a COSM219333 c.1933A>C p.T645P Substitution - Missense 6:99445839-99445839 - 108 COSM3831273 c.2198A>G p.Y733C Substitution - Missense 6:99437362-99437362 - TCGA-E2-A2P6-01 COSM5835272 c.922delG p.E308fs*11 Deletion - Frameshift 6:99476154-99476154 - TCGA-EE-A3JI-06 COSM3630727 c.16C>T p.P6S Substitution - Missense 6:99510205-99510205 - TCGA-FW-A3R5-06 COSM3922281 c.2271C>T p.S757S Substitution - coding silent 6:99437289-99437289 - TCGA-B5-A0JY-01 COSM1082816 c.1815G>A p.Q605Q Substitution - coding silent 6:99445957-99445957 - S00934 COSM5662916 c.452A>G p.Q151R Substitution - Missense 6:99503791-99503791 - UM-SCC-17B COSM4598671 c.70C>G p.H24D Substitution - Missense 6:99510151-99510151 - AOCS-163-1-4 COSM4153668 c.619-6T>A p.? Unknown 6:99488301-99488301 - TCGA-G4-6309-01 COSM1439353 c.1769delT p.L590fs*1 Deletion - Frameshift 6:99446003-99446003 - Patient_1_tumour_4 COSM1754380 c.1924G>A p.E642K Substitution - Missense 6:99445848-99445848 - TCGA-A6-2683-01 COSM291238 c.1079G>T p.S360I Substitution - Missense 6:99466700-99466700 - TCGA-AO-A03M-01 COSM3831272 c.2206G>C p.V736L Substitution - Missense 6:99437354-99437354 - 454 COSM4436042 c.1452A>C p.E484D Substitution - Missense 6:99446320-99446320 - HN_62863 COSM130126 c.539A>G p.K180R Substitution - Missense 6:99488760-99488760 - TCGA-A8-A09D-01 COSM451962 c.2079C>G p.G693G Substitution - coding silent 6:99439850-99439850 - Pat_59_B COSM5871271 c.2173G>A p.G725R Substitution - Missense 6:99437387-99437387 - TCGA-CA-6717-01 COSM1439360 c.559T>G p.L187V Substitution - Missense 6:99488740-99488740 - TCGA-D1-A17Q-01 COSM1082831 c.190G>A p.E64K Substitution - Missense 6:99508693-99508693 - ME009T COSM223115 c.377+1G>A p.? Unknown 6:99507427-99507427 - TCGA-AZ-6598-01 COSM1439359 c.572G>A p.G191E Substitution - Missense 6:99488727-99488727 - TCGA-D8-A1J8-01 COSM3831276 c.241G>C p.D81H Substitution - Missense 6:99508642-99508642 - SNUH_G73_S1 COSM4415874 c.1661A>G p.E554G Substitution - Missense 6:99446111-99446111 - TCGA-EE-A3J7-06 COSM3922280 c.2422C>T p.L808F Substitution - Missense 6:99435739-99435739 - TCGA-DI-A0WH-01 COSM1082828 c.576T>C p.I192I Substitution - coding silent 6:99488723-99488723 - SNUH_G45_S1 COSM4004165 c.1710A>G p.G570G Substitution - coding silent 6:99446062-99446062 - NYU658 COSM4771078 c.416A>G p.N139S Substitution - Missense 6:99503827-99503827 - TCGA-EE-A29A-06 COSM3630725 c.1790C>G p.S597C Substitution - Missense 6:99445982-99445982 - TCGA-BR-8680-01 COSM3876301 c.2180A>C p.K727T Substitution - Missense 6:99437380-99437380 - TCGA-BS-A0UV-01 COSM1082821 c.1027G>T p.E343* Substitution - Nonsense 6:99466752-99466752 - HT115 COSM3080123 c.213C>A p.F71L Substitution - Missense 6:99508670-99508670 - HCT116 COSM3080093 c.1991G>A p.G664E Substitution - Missense 6:99443647-99443647 - CN-AML-CR-32-Dx COSM150144 c.199A>G p.K67E Substitution - Missense 6:99508684-99508684 - 101047 COSM95484 c.752T>C p.L251P Substitution - Missense 6:99482846-99482846 - HCT15 COSM3080095 c.1918C>T p.L640L Substitution - coding silent 6:99445854-99445854 - STC297 COSM5062010 c.417T>G p.N139K Substitution - Missense 6:99503826-99503826 - TCGA-EI-7002-01 COSM3430975 c.384T>G p.Y128* Substitution - Nonsense 6:99503859-99503859 - Pat_06_B COSM5871272 c.2074-1G>T p.? Unknown 6:99439856-99439856 - PD4006a COSM219333 c.1933A>C p.T645P Substitution - Missense 6:99445839-99445839 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.143316;Hs.143328;Hs.143347;Hs.143374;Hs.143408;Hs.143410 6q16.2

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A - Frameshift p.L134Yfs*13 c.401delT 6 99951718 CM A - Frameshift p.L404Yfs*15 c.1211delT 6 99912577 RCCC A G 3-UTRSNV . c.2442+2056T>C 6 99881539 HC A G 3-UTRSNV . c.2442+81T>C 6 99883514 HC A G Missense p.M347T c.1040T>C 6 99914615 UCEC A G Synonymous p.T21T c.63T>C 6 99958034 STAD C A 3-UTRSNV . c.2442+2058G>T 6 99881537 HC C A Missense p.D435Y c.1303G>T 6 99912485 CM C A Missense p.S360I c.1079G>T 6 99914576 COREAD C A Nonsense p.G525* c.1573G>T 6 99894075 OV C G Missense p.E174Q c.520G>C 6 99936655 BRCA C G Synonymous p.V305V c.915G>C 6 99924037 THCA C T Missense p.A203T c.607G>A 6 99936568 UCEC C T Missense p.E174K c.520G>A 6 99936655 BRCA G A Missense p.L808F c.2422C>T 6 99883615 CM G A Missense p.P269S c.805C>T 6 99930669 GBM G A Missense p.P6S c.16C>T 6 99958081 CM G A Missense p.R481C c.1441C>T 6 99894207 STAD G A Synonymous p.D442D c.1326C>T 6 99894322 CM G C Missense p.S597C c.1790C>G 6 99893858 CM G C Synonymous p.G693G c.2079C>G 6 99887726 BRCA G T Missense p.Q151K c.451C>A 6 99951668 LUSC T C 3-UTRSNV . c.2442+3A>G 6 99883592 HNSC T C Missense p.D239G c.716A>G 6 99930758 UCEC T C Missense p.D288G c.863A>G 6 99924089 RCCC T C Missense p.K107R c.320A>G 6 99955361 PRAD T C Missense p.K180R c.539A>G 6 99936636 HNSC T C Missense p.S474G c.1420A>G 6 99894228 HNSC T - Frameshift p.K546Rfs*19 c.1637delA 6 99894011 LUAD T G IntronicSNV . c.1165-35A>C 6 99912658 HC