Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 9 84200559 84200559 + Silent SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 g.chr9:84200559C>T c.1989G>A c.(1987-1989)ctG>ctA p.L663L BLCA 9 84200568 84200568 + Silent SNP G G A TCGA-4Z-AA7W-01A-11D-A391-08 TCGA-4Z-AA7W-10A-01D-A394-08 g.chr9:84200568G>A c.1980C>T c.(1978-1980)atC>atT p.I660I BLCA 9 84202674 84202674 + Silent SNP C C G TCGA-KQ-A41R-01A-21D-A34U-08 TCGA-KQ-A41R-10G-01D-A34X-08 g.chr9:84202674C>G c.1899G>C c.(1897-1899)acG>acC p.T633T BLCA 9 84202699 84202699 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr9:84202699G>C c.1874C>G c.(1873-1875)tCt>tGt p.S625C BLCA 9 84205815 84205815 + Silent SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 g.chr9:84205815G>A c.1734C>T c.(1732-1734)taC>taT p.Y578Y BLCA 9 84230944 84230944 + Missense_Mutation SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 g.chr9:84230944C>T c.871G>A c.(871-873)Gcc>Acc p.A291T BLCA 9 84230956 84230956 + Missense_Mutation SNP G G C TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 g.chr9:84230956G>C c.859C>G c.(859-861)Cca>Gca p.P287A BLCA 9 84230961 84230961 + Missense_Mutation SNP C C G TCGA-E7-A541-01A-11D-A26M-08 TCGA-E7-A541-10A-01D-A26K-08 g.chr9:84230961C>G c.854G>C c.(853-855)aGc>aCc p.S285T BLCA 9 84235392 84235392 + Missense_Mutation SNP C C A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr9:84235392C>A c.675G>T c.(673-675)aaG>aaT p.K225N BLCA 9 84235445 84235445 + Silent SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 g.chr9:84235445G>A c.622C>T c.(622-624)Cta>Tta p.L208L BLCA 9 84268900 84268900 + Silent SNP G G A TCGA-XF-A9T6-01A-11D-A42E-08 TCGA-XF-A9T6-10A-01D-A42H-08 g.chr9:84268900G>A c.286C>T c.(286-288)Ctg>Ttg p.L96L BLCA 9 84300624 84300624 + Missense_Mutation SNP C C A TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 g.chr9:84300624C>A c.201G>T c.(199-201)atG>atT p.M67I BRCA 9 84202721 84202721 + Missense_Mutation SNP C C G TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 g.chr9:84202721C>G c.1852G>C c.(1852-1854)Gga>Cga p.G618R BRCA 9 84202727 84202727 + Missense_Mutation SNP T T C TCGA-E9-A1NE-01A-21D-A14K-09 TCGA-E9-A1NE-10A-01D-A14K-09 g.chr9:84202727T>C c.1846A>G c.(1846-1848)Aca>Gca p.T616A BRCA 9 84202743 84202743 + Splice_Site SNP C C A TCGA-AO-A1KT-01A-11D-A13L-09 TCGA-AO-A1KT-10A-01D-A188-09 g.chr9:84202743C>A c.1830G>T c.(1828-1830)agG>agT p.R610S BRCA 9 84235381 84235381 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr9:84235381A>C c.686T>G c.(685-687)gTg>gGg p.V229G CHOL 9 84226713 84226713 + Missense_Mutation SNP C C T TCGA-3X-AAVE-01A-11D-A417-09 TCGA-3X-AAVE-10A-01D-A41A-09 g.chr9:84226713C>T c.1225G>A c.(1225-1227)Gcc>Acc p.A409T COAD 9 84200448 84200448 + Silent SNP G G A TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr9:84200448G>A c.2100C>T c.(2098-2100)tgC>tgT p.C700C COAD 9 84205859 84205859 + Missense_Mutation SNP G G A TCGA-CM-5344-01A-21D-1719-10 TCGA-CM-5344-10A-01D-1719-10 g.chr9:84205859G>A c.1690C>T c.(1690-1692)Ccg>Tcg p.P564S COAD 9 84205869 84205869 + Silent SNP C C T TCGA-CM-6161-01A-11D-1650-10 TCGA-CM-6161-10A-01D-1650-10 g.chr9:84205869C>T c.1680G>A c.(1678-1680)gcG>gcA p.A560A COAD 9 84205870 84205870 + Missense_Mutation SNP G G A TCGA-AA-3852-01A-01W-0900-09 TCGA-AA-3852-10A-01W-0900-09 g.chr9:84205870G>A c.1679C>T c.(1678-1680)gCg>gTg p.A560V COAD 9 84205889 84205889 + Missense_Mutation SNP A A C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr9:84205889A>C c.1660T>G c.(1660-1662)Ttg>Gtg p.L554V COAD 9 84205956 84205956 + Silent SNP A A G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr9:84205956A>G c.1593T>C c.(1591-1593)aaT>aaC p.N531N COAD 9 84208056 84208056 + Missense_Mutation SNP C C T TCGA-AA-3697-01A-01D-1719-10 TCGA-AA-3697-11A-01D-1719-10 g.chr9:84208056C>T c.1465G>A c.(1465-1467)Gct>Act p.A489T COAD 9 84208114 84208114 + Silent SNP G G A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr9:84208114G>A c.1407C>T c.(1405-1407)ccC>ccT p.P469P COAD 9 84225142 84225142 + Missense_Mutation SNP C C T TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr9:84225142C>T c.1324G>A c.(1324-1326)Ggg>Agg p.G442R COAD 9 84226773 84226773 + Missense_Mutation SNP C C T TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr9:84226773C>T c.1165G>A c.(1165-1167)Gct>Act p.A389T COAD 9 84249121 84249121 + Silent SNP C C T TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr9:84249121C>T c.468G>A c.(466-468)ccG>ccA p.P156P COAD 9 84300589 84300589 + Splice_Site SNP A A G TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr9:84300589A>G c.e4+1 COAD 9 84300630 84300630 + Silent SNP A A G TCGA-DM-A1D6-01A-21D-A152-10 TCGA-DM-A1D6-10A-01D-A152-10 g.chr9:84300630A>G c.195T>C c.(193-195)taT>taC p.Y65Y COADREAD 9 84200448 84200448 + Silent SNP G G A TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr9:84200448G>A c.2100C>T c.(2098-2100)tgC>tgT p.C700C COADREAD 9 84205859 84205859 + Missense_Mutation SNP G G A TCGA-CM-5344-01A-21D-1719-10 TCGA-CM-5344-10A-01D-1719-10 g.chr9:84205859G>A c.1690C>T c.(1690-1692)Ccg>Tcg p.P564S COADREAD 9 84205869 84205869 + Silent SNP C C T TCGA-CM-6161-01A-11D-1650-10 TCGA-CM-6161-10A-01D-1650-10 g.chr9:84205869C>T c.1680G>A c.(1678-1680)gcG>gcA p.A560A COADREAD 9 84205870 84205870 + Missense_Mutation SNP G G A TCGA-AA-3852-01A-01W-0900-09 TCGA-AA-3852-10A-01W-0900-09 g.chr9:84205870G>A c.1679C>T c.(1678-1680)gCg>gTg p.A560V COADREAD 9 84205889 84205889 + Missense_Mutation SNP A A C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr9:84205889A>C c.1660T>G c.(1660-1662)Ttg>Gtg p.L554V COADREAD 9 84205956 84205956 + Silent SNP A A G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr9:84205956A>G c.1593T>C c.(1591-1593)aaT>aaC p.N531N COADREAD 9 84208056 84208056 + Missense_Mutation SNP C C T TCGA-AA-3697-01A-01D-1719-10 TCGA-AA-3697-11A-01D-1719-10 g.chr9:84208056C>T c.1465G>A c.(1465-1467)Gct>Act p.A489T COADREAD 9 84208114 84208114 + Silent SNP G G A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr9:84208114G>A c.1407C>T c.(1405-1407)ccC>ccT p.P469P COADREAD 9 84225142 84225142 + Missense_Mutation SNP C C T TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr9:84225142C>T c.1324G>A c.(1324-1326)Ggg>Agg p.G442R COADREAD 9 84226773 84226773 + Missense_Mutation SNP C C T TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr9:84226773C>T c.1165G>A c.(1165-1167)Gct>Act p.A389T COADREAD 9 84249121 84249121 + Silent SNP C C T TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr9:84249121C>T c.468G>A c.(466-468)ccG>ccA p.P156P COADREAD 9 84300589 84300589 + Splice_Site SNP A A G TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr9:84300589A>G c.e4+1 COADREAD 9 84300630 84300630 + Silent SNP A A G TCGA-DM-A1D6-01A-21D-A152-10 TCGA-DM-A1D6-10A-01D-A152-10 g.chr9:84300630A>G c.195T>C c.(193-195)taT>taC p.Y65Y DLBC 9 84302311 84302311 + Silent SNP A A G TCGA-G8-6907-01A-11D-2210-10 TCGA-G8-6907-14A-01D-2210-10 g.chr9:84302311A>G c.63T>C c.(61-63)acT>acC p.T21T ESCA 9 84208174 84208174 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr9:84208174G>A c.1347C>T c.(1345-1347)caC>caT p.H449H ESCA 9 84230981 84230981 + Silent SNP C C A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 g.chr9:84230981C>A c.834G>T c.(832-834)ctG>ctT p.L278L ESCA 9 84235427 84235427 + Missense_Mutation SNP G G A TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 g.chr9:84235427G>A c.640C>T c.(640-642)Cgc>Tgc p.R214C ESCA 9 84249102 84249102 + Missense_Mutation SNP C C T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 g.chr9:84249102C>T c.487G>A c.(487-489)Ggc>Agc p.G163S ESCA 9 84268949 84268949 + Silent SNP A A C TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 g.chr9:84268949A>C c.237T>G c.(235-237)acT>acG p.T79T GBM 9 84200544 84200544 + Silent SNP G G A TCGA-19-2631-01A-01D-1353-08 TCGA-19-2631-10B-01D-1353-08 g.chr9:84200544G>A c.2004C>T c.(2002-2004)acC>acT p.T668T GBMLGG 9 84200544 84200544 + Silent SNP G G A TCGA-19-2631-01A-01D-1353-08 TCGA-19-2631-10B-01D-1353-08 g.chr9:84200544G>A c.2004C>T c.(2002-2004)acC>acT p.T668T HNSC 9 84199390 84199390 + Frame_Shift_Del DEL C C - TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 g.chr9:84199390delC c.2178delG c.(2176-2178)cggfs p.R726fs HNSC 9 84202720 84202720 + Frame_Shift_Del DEL C C - TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 g.chr9:84202720delC c.1853delG c.(1852-1854)ggafs p.G618fs HNSC 9 84205745 84205745 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 g.chr9:84205745C>G c.1804G>C c.(1804-1806)Gat>Cat p.D602H HNSC 9 84205764 84205764 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr9:84205764G>A c.1785C>T c.(1783-1785)gaC>gaT p.D595D HNSC 9 84208113 84208113 + Nonsense_Mutation SNP C C A TCGA-UF-A71D-01A-12D-A34J-08 TCGA-UF-A71D-10B-01D-A34M-08 g.chr9:84208113C>A c.1408G>T c.(1408-1410)Gga>Tga p.G470* HNSC 9 84226773 84226773 + Missense_Mutation SNP C C T TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 g.chr9:84226773C>T c.1165G>A c.(1165-1167)Gct>Act p.A389T HNSC 9 84226786 84226786 + Silent SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 g.chr9:84226786C>T c.1152G>A c.(1150-1152)ctG>ctA p.L384L HNSC 9 84230975 84230975 + Silent SNP C C T TCGA-CV-A6K2-01A-11D-A31L-08 TCGA-CV-A6K2-10A-01D-A31J-08 g.chr9:84230975C>T c.840G>A c.(838-840)aaG>aaA p.K280K HNSC 9 84231042 84231042 + Missense_Mutation SNP G G A TCGA-KU-A66S-01A-21D-A30E-08 TCGA-KU-A66S-10A-01D-A30H-08 g.chr9:84231042G>A c.773C>T c.(772-774)tCt>tTt p.S258F HNSC 9 84267137 84267137 + Missense_Mutation SNP T T C TCGA-CN-A641-01A-11D-A30E-08 TCGA-CN-A641-10A-01D-A30H-08 g.chr9:84267137T>C c.364A>G c.(364-366)Atc>Gtc p.I122V KICH 9 84199172 84199172 + Missense_Mutation SNP T T C TCGA-KM-8443-01A-11D-2310-10 TCGA-KM-8443-10A-01D-2311-10 g.chr9:84199172T>C c.2254A>G c.(2254-2256)Aag>Gag p.K752E KIPAN 9 84199172 84199172 + Missense_Mutation SNP T T C TCGA-KM-8443-01A-11D-2310-10 TCGA-KM-8443-10A-01D-2311-10 g.chr9:84199172T>C c.2254A>G c.(2254-2256)Aag>Gag p.K752E KIPAN 9 84205823 84205823 + Missense_Mutation SNP C C T TCGA-CJ-5677-01A-11D-1534-10 TCGA-CJ-5677-11A-01D-1534-10 g.chr9:84205823C>T c.1726G>A c.(1726-1728)Gcc>Acc p.A576T KIPAN 9 84267197 84267197 + Missense_Mutation SNP G G C TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 g.chr9:84267197G>C c.304C>G c.(304-306)Caa>Gaa p.Q102E KIRC 9 84205823 84205823 + Missense_Mutation SNP C C T TCGA-CJ-5677-01A-11D-1534-10 TCGA-CJ-5677-11A-01D-1534-10 g.chr9:84205823C>T c.1726G>A c.(1726-1728)Gcc>Acc p.A576T KIRC 9 84267197 84267197 + Missense_Mutation SNP G G C TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 g.chr9:84267197G>C c.304C>G c.(304-306)Caa>Gaa p.Q102E LIHC 9 84202721 84202721 + Nonsense_Mutation SNP C C A TCGA-2Y-A9H5-01A-11D-A382-10 TCGA-2Y-A9H5-10A-01D-A385-10 g.chr9:84202721C>A c.1852G>T c.(1852-1854)Gga>Tga p.G618* LIHC 9 84208092 84208092 + Nonsense_Mutation SNP G G A TCGA-FV-A495-01A-11D-A25V-10 TCGA-FV-A495-10A-01D-A25V-10 g.chr9:84208092G>A c.1429C>T c.(1429-1431)Cag>Tag p.Q477* LIHC 9 84208095 84208095 + Missense_Mutation SNP G G T TCGA-BC-A5W4-01A-11D-A28X-10 TCGA-BC-A5W4-10A-01D-A28X-10 g.chr9:84208095G>T c.1426C>A c.(1426-1428)Cgc>Agc p.R476S LIHC 9 84235385 84235385 + Missense_Mutation SNP T T C TCGA-2Y-A9H9-01A-21D-A38X-10 TCGA-2Y-A9H9-10A-01D-A38X-10 g.chr9:84235385T>C c.682A>G c.(682-684)Aag>Gag p.K228E LIHC 9 84268953 84268953 + Splice_Site SNP T T A TCGA-XR-A8TF-01A-11D-A35Z-10 TCGA-XR-A8TF-10A-01D-A35Z-10 g.chr9:84268953T>A c.e5-2 LIHC 9 84300807 84300807 + Missense_Mutation SNP T T C TCGA-G3-A3CK-01A-11D-A20W-10 TCGA-G3-A3CK-10A-01D-A20W-10 g.chr9:84300807T>C c.130A>G c.(130-132)Aaa>Gaa p.K44E LUAD 9 84208062 84208062 + Missense_Mutation SNP C C T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 g.chr9:84208062C>T c.1459G>A c.(1459-1461)Gtg>Atg p.V487M LUAD 9 84208119 84208119 + Nonsense_Mutation SNP C C A TCGA-69-7978-01A-11D-2184-08 TCGA-69-7978-10A-01D-2184-08 g.chr9:84208119C>A c.1402G>T c.(1402-1404)Gga>Tga p.G468* LUAD 9 84226816 84226816 + Missense_Mutation SNP C C A TCGA-55-8203-01A-11D-2238-08 TCGA-55-8203-10A-01D-2238-08 g.chr9:84226816C>A c.1122G>T c.(1120-1122)atG>atT p.M374I LUAD 9 84228380 84228380 + Silent SNP G G A TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 g.chr9:84228380G>A c.975C>T c.(973-975)gaC>gaT p.D325D LUAD 9 84267154 84267154 + Missense_Mutation SNP A A T TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 g.chr9:84267154A>T c.347T>A c.(346-348)aTg>aAg p.M116K LUAD 9 84267185 84267185 + Nonsense_Mutation SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 g.chr9:84267185G>A c.316C>T c.(316-318)Cag>Tag p.Q106* LUSC 9 84199166 84199166 + Missense_Mutation SNP T T C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 g.chr9:84199166T>C c.2260A>G c.(2260-2262)Ata>Gta p.I754V LUSC 9 84202721 84202721 + Missense_Mutation SNP C C G TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 g.chr9:84202721C>G c.1852G>C c.(1852-1854)Gga>Cga p.G618R LUSC 9 84231614 84231614 + Splice_Site SNP C C A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 g.chr9:84231614C>A c.712G>T c.(712-714)Gac>Tac p.D238Y LUSC 9 84249063 84249063 + Missense_Mutation SNP G G A TCGA-37-5819-01A-01D-1632-08 TCGA-37-5819-10A-01D-1632-08 g.chr9:84249063G>A c.526C>T c.(526-528)Cac>Tac p.H176Y OV 9 84200491 84200491 + Missense_Mutation SNP A A T TCGA-24-1564-01A-01W-0551-08 TCGA-24-1564-10A-01W-0551-08 g.chr9:84200491A>T c.2057T>A c.(2056-2058)gTg>gAg p.V686E PAAD 9 84205779 84205779 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr9:84205779G>T c.1770C>A c.(1768-1770)ttC>ttA p.F590L PAAD 9 84208113 84208113 + Nonsense_Mutation SNP C C A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 g.chr9:84208113C>A c.1408G>T c.(1408-1410)Gga>Tga p.G470* PAAD 9 84228383 84228383 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr9:84228383G>A c.972C>T c.(970-972)agC>agT p.S324S PCPG 9 84205889 84205889 + Silent SNP A A G TCGA-QR-A70T-01A-11D-A35D-08 TCGA-QR-A70T-10A-01D-A35B-08 g.chr9:84205889A>G c.1660T>C c.(1660-1662)Ttg>Ctg p.L554L PCPG 9 84228341 84228341 + Silent SNP A A G TCGA-RW-A684-01A-12D-A35D-08 TCGA-RW-A684-10A-01D-A35B-08 g.chr9:84228341A>G c.1014T>C c.(1012-1014)cgT>cgC p.R338R PRAD 9 84199168 84199168 + Missense_Mutation SNP T T C TCGA-HC-A6AO-01A-11D-A30E-08 TCGA-HC-A6AO-10A-01D-A30H-08 g.chr9:84199168T>C c.2258A>G c.(2257-2259)tAc>tGc p.Y753C PRAD 9 84202651 84202651 + Missense_Mutation SNP C C T TCGA-KK-A8I7-01A-21D-A364-08 TCGA-KK-A8I7-11A-12D-A362-08 g.chr9:84202651C>T c.1922G>A c.(1921-1923)aGg>aAg p.R641K PRAD 9 84202653 84202653 + Silent SNP G G T TCGA-XJ-A9DX-01A-11D-A377-08 TCGA-XJ-A9DX-10A-01D-A37A-08 g.chr9:84202653G>T c.1920C>A c.(1918-1920)gtC>gtA p.V640V PRAD 9 84205796 84205796 + Missense_Mutation SNP C C T TCGA-YL-A8SP-01B-11D-A377-08 TCGA-YL-A8SP-10A-01D-A37A-08 g.chr9:84205796C>T c.1753G>A c.(1753-1755)Gat>Aat p.D585N PRAD 9 84208159 84208159 + Silent SNP A A C TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr9:84208159A>C c.1362T>G c.(1360-1362)ggT>ggG p.G454G PRAD 9 84226744 84226744 + Silent SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr9:84226744C>T c.1194G>A c.(1192-1194)tcG>tcA p.S398S PRAD 9 84226784 84226784 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr9:84226784G>A c.1154C>T c.(1153-1155)aCc>aTc p.T385I SARC 9 84228347 84228347 + Silent SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 g.chr9:84228347G>A c.1008C>T c.(1006-1008)ggC>ggT p.G336G SARC 9 84230928 84230928 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 g.chr9:84230928G>A c.887C>T c.(886-888)tCc>tTc p.S296F SKCM 9 84208114 84208114 + Silent SNP G G A TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr9:84208114G>A c.1407C>T c.(1405-1407)ccC>ccT p.P469P SKCM 9 84225190 84225190 + Missense_Mutation SNP G G A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 g.chr9:84225190G>A c.1276C>T c.(1276-1278)Cac>Tac p.H426Y SKCM 9 84226687 84226687 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr9:84226687G>A c.1251C>T c.(1249-1251)ccC>ccT p.P417P SKCM 9 84226688 84226688 + Missense_Mutation SNP G G A TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr9:84226688G>A c.1250C>T c.(1249-1251)cCc>cTc p.P417L SKCM 9 84230986 84230986 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 g.chr9:84230986G>A c.829C>T c.(829-831)Cgc>Tgc p.R277C SKCM 9 84231585 84231585 + Silent SNP G G A TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 g.chr9:84231585G>A c.741C>T c.(739-741)aaC>aaT p.N247N SKCM 9 84268944 84268944 + Missense_Mutation SNP A A T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 g.chr9:84268944A>T c.242T>A c.(241-243)aTc>aAc p.I81N

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 9 84199214 84199214 single base substitution C G missense_variant E738Q 2212G>C BLCA-US 9 84202699 84202699 single base substitution G C missense_variant S625C 1874C>G BLCA-US 9 84230944 84230944 single base substitution C T 5_prime_UTR_variant BLCA-US 9 84230944 84230944 single base substitution C T downstream_gene_variant BLCA-US 9 84230944 84230944 single base substitution C T exon_variant BLCA-US 9 84230944 84230944 single base substitution C T missense_variant A291T 871G>A BLCA-US 9 84230944 84230944 single base substitution C T upstream_gene_variant BLCA-US 9 84230956 84230956 single base substitution G C 5_prime_UTR_variant BLCA-US 9 84230956 84230956 single base substitution G C downstream_gene_variant BLCA-US 9 84230956 84230956 single base substitution G C exon_variant BLCA-US 9 84230956 84230956 single base substitution G C missense_variant P287A 859C>G BLCA-US 9 84230956 84230956 single base substitution G C upstream_gene_variant BLCA-US 9 84235445 84235445 single base substitution G A 5_prime_UTR_variant BLCA-US 9 84235445 84235445 single base substitution G A exon_variant BLCA-US 9 84235445 84235445 single base substitution G A synonymous_variant L208L 622C>T BLCA-US 9 84235445 84235445 single base substitution G A synonymous_variant L218L 652C>T BLCA-US 9 84300624 84300624 single base substitution C A 5_prime_UTR_variant BLCA-US 9 84300624 84300624 single base substitution C A missense_variant M11I 33G>T BLCA-US 9 84300624 84300624 single base substitution C A missense_variant M67I 201G>T BOCA-FR 9 84242339 84242339 single base substitution T G intron_variant BOCA-FR 9 84265072 84265072 single base substitution G A intron_variant BOCA-FR 9 84307180 84307180 single base substitution C T upstream_gene_variant BRCA-EU 9 84194485 84194485 single base substitution C A downstream_gene_variant BRCA-EU 9 84195730 84195730 single base substitution G A downstream_gene_variant BRCA-EU 9 84197910 84197910 single base substitution G A downstream_gene_variant BRCA-EU 9 84198184 84198184 single base substitution A C downstream_gene_variant BRCA-EU 9 84198509 84198509 single base substitution C G downstream_gene_variant BRCA-EU 9 84199286 84199286 single base substitution C T intron_variant BRCA-EU 9 84200739 84200739 single base substitution C T intron_variant BRCA-EU 9 84200812 84200812 single base substitution A C intron_variant BRCA-EU 9 84200874 84200874 single base substitution T C intron_variant BRCA-EU 9 84201080 84201085 deletion of <=200bp CCACCA - intron_variant BRCA-EU 9 84201189 84201192 deletion of <=200bp CCCA - intron_variant BRCA-EU 9 84203086 84203086 single base substitution A T intron_variant BRCA-EU 9 84204253 84204253 single base substitution C G intron_variant BRCA-EU 9 84204317 84204317 single base substitution G C intron_variant BRCA-EU 9 84204651 84204651 single base substitution G C intron_variant BRCA-EU 9 84204675 84204675 single base substitution A C intron_variant BRCA-EU 9 84205369 84205369 single base substitution G A intron_variant BRCA-EU 9 84205371 84205371 single base substitution C T intron_variant BRCA-EU 9 84205812 84205812 single base substitution G A synonymous_variant A579A 1737C>T BRCA-EU 9 84205856 84205856 single base substitution G C missense_variant R565G 1693C>G BRCA-EU 9 84206215 84206215 single base substitution A C intron_variant BRCA-EU 9 84206418 84206418 single base substitution C G intron_variant BRCA-EU 9 84210583 84210583 single base substitution A G downstream_gene_variant BRCA-EU 9 84210583 84210583 single base substitution A G intron_variant BRCA-EU 9 84213002 84213002 single base substitution A T downstream_gene_variant BRCA-EU 9 84213002 84213002 single base substitution A T intron_variant BRCA-EU 9 84213154 84213154 single base substitution G A downstream_gene_variant BRCA-EU 9 84213154 84213154 single base substitution G A intron_variant BRCA-EU 9 84214775 84214775 single base substitution G A downstream_gene_variant BRCA-EU 9 84214775 84214775 single base substitution G A intron_variant BRCA-EU 9 84215691 84215691 single base substitution T C intron_variant BRCA-EU 9 84215874 84215874 single base substitution G A intron_variant BRCA-EU 9 84215904 84215904 single base substitution C A intron_variant BRCA-EU 9 84216251 84216251 single base substitution T A intron_variant BRCA-EU 9 84216583 84216583 single base substitution G A intron_variant BRCA-EU 9 84216951 84216951 single base substitution C G intron_variant BRCA-EU 9 84217234 84217234 single base substitution G A intron_variant BRCA-EU 9 84218191 84218191 single base substitution C G intron_variant BRCA-EU 9 84218355 84218355 single base substitution C G intron_variant BRCA-EU 9 84222090 84222090 single base substitution T C downstream_gene_variant BRCA-EU 9 84222090 84222090 single base substitution T C intron_variant BRCA-EU 9 84222494 84222494 single base substitution G C downstream_gene_variant BRCA-EU 9 84222494 84222494 single base substitution G C intron_variant BRCA-EU 9 84224752 84224752 single base substitution C G downstream_gene_variant BRCA-EU 9 84224752 84224752 single base substitution C G intron_variant BRCA-EU 9 84225314 84225314 single base substitution A G downstream_gene_variant BRCA-EU 9 84225314 84225314 single base substitution A G intron_variant BRCA-EU 9 84227794 84227794 single base substitution G A intron_variant BRCA-EU 9 84227917 84227917 single base substitution G A intron_variant BRCA-EU 9 84228384 84228384 single base substitution C G 5_prime_UTR_variant BRCA-EU 9 84228384 84228384 single base substitution C G exon_variant BRCA-EU 9 84228384 84228384 single base substitution C G missense_variant S324T 971G>C BRCA-EU 9 84232274 84232274 single base substitution A C downstream_gene_variant BRCA-EU 9 84232274 84232274 single base substitution A C intron_variant BRCA-EU 9 84232274 84232274 single base substitution A C upstream_gene_variant BRCA-EU 9 84232485 84232485 single base substitution C T downstream_gene_variant BRCA-EU 9 84232485 84232485 single base substitution C T intron_variant BRCA-EU 9 84232485 84232485 single base substitution C T upstream_gene_variant BRCA-EU 9 84233582 84233582 single base substitution C T downstream_gene_variant BRCA-EU 9 84233582 84233582 single base substitution C T intron_variant BRCA-EU 9 84234506 84234506 single base substitution C T downstream_gene_variant BRCA-EU 9 84234506 84234506 single base substitution C T intron_variant BRCA-EU 9 84234651 84234651 single base substitution G A downstream_gene_variant BRCA-EU 9 84234651 84234651 single base substitution G A intron_variant BRCA-EU 9 84235357 84235357 single base substitution T C downstream_gene_variant BRCA-EU 9 84235357 84235357 single base substitution T C missense_variant Y237C 710A>G BRCA-EU 9 84235357 84235357 single base substitution T C splice_region_variant BRCA-EU 9 84236080 84236080 single base substitution C G intron_variant BRCA-EU 9 84236080 84236080 single base substitution C G upstream_gene_variant BRCA-EU 9 84236566 84236566 single base substitution G A intron_variant BRCA-EU 9 84236566 84236566 single base substitution G A upstream_gene_variant BRCA-EU 9 84237357 84237357 deletion of <=200bp T - intron_variant BRCA-EU 9 84237357 84237357 deletion of <=200bp T - upstream_gene_variant BRCA-EU 9 84237506 84237506 single base substitution G A intron_variant BRCA-EU 9 84237506 84237506 single base substitution G A upstream_gene_variant BRCA-EU 9 84237916 84237916 single base substitution C T intron_variant BRCA-EU 9 84237916 84237916 single base substitution C T upstream_gene_variant BRCA-EU 9 84237992 84237992 single base substitution C G intron_variant BRCA-EU 9 84237992 84237992 single base substitution C G upstream_gene_variant BRCA-EU 9 84237997 84237997 single base substitution G C intron_variant BRCA-EU 9 84237997 84237997 single base substitution G C upstream_gene_variant BRCA-EU 9 84239240 84239240 single base substitution T C intron_variant BRCA-EU 9 84239240 84239240 single base substitution T C upstream_gene_variant BRCA-EU 9 84240904 84240904 single base substitution C T intron_variant BRCA-EU 9 84241259 84241259 single base substitution C T intron_variant BRCA-EU 9 84241304 84241304 single base substitution C G intron_variant BRCA-EU 9 84241792 84241792 single base substitution C G intron_variant BRCA-EU 9 84242227 84242227 single base substitution C G intron_variant BRCA-EU 9 84242521 84242521 single base substitution C G intron_variant BRCA-EU 9 84245979 84245979 single base substitution C T downstream_gene_variant BRCA-EU 9 84245979 84245979 single base substitution C T intron_variant BRCA-EU 9 84246706 84246706 single base substitution C G downstream_gene_variant BRCA-EU 9 84246706 84246706 single base substitution C G intron_variant BRCA-EU 9 84247316 84247316 deletion of <=200bp A - downstream_gene_variant BRCA-EU 9 84247316 84247316 deletion of <=200bp A - intron_variant BRCA-EU 9 84247684 84247684 single base substitution G C downstream_gene_variant BRCA-EU 9 84247684 84247684 single base substitution G C intron_variant BRCA-EU 9 84248255 84248255 single base substitution G A downstream_gene_variant BRCA-EU 9 84248255 84248255 single base substitution G A splice_region_variant BRCA-EU 9 84249899 84249899 single base substitution C T intron_variant BRCA-EU 9 84250057 84250057 single base substitution G A intron_variant BRCA-EU 9 84250081 84250081 single base substitution G A intron_variant BRCA-EU 9 84250095 84250095 single base substitution G A intron_variant BRCA-EU 9 84250360 84250360 single base substitution C G intron_variant BRCA-EU 9 84252082 84252082 single base substitution G C intron_variant BRCA-EU 9 84252724 84252724 single base substitution C G intron_variant BRCA-EU 9 84253873 84253873 single base substitution C G intron_variant BRCA-EU 9 84254596 84254596 single base substitution C G intron_variant BRCA-EU 9 84254769 84254769 single base substitution G A intron_variant BRCA-EU 9 84254855 84254855 single base substitution C A intron_variant BRCA-EU 9 84254977 84254977 single base substitution A G intron_variant BRCA-EU 9 84256939 84256939 deletion of <=200bp A - intron_variant BRCA-EU 9 84257335 84257335 single base substitution C T intron_variant BRCA-EU 9 84258983 84258983 single base substitution G A intron_variant BRCA-EU 9 84259280 84259280 single base substitution G A intron_variant BRCA-EU 9 84259396 84259396 single base substitution G T intron_variant BRCA-EU 9 84259407 84259407 single base substitution T C intron_variant BRCA-EU 9 84259743 84259743 single base substitution T C intron_variant BRCA-EU 9 84262407 84262407 single base substitution C T intron_variant BRCA-EU 9 84262761 84262761 single base substitution G A intron_variant BRCA-EU 9 84262846 84262846 single base substitution A T intron_variant BRCA-EU 9 84263032 84263032 single base substitution C G intron_variant BRCA-EU 9 84265498 84265498 single base substitution T C intron_variant BRCA-EU 9 84267476 84267476 single base substitution T C intron_variant BRCA-EU 9 84269853 84269853 single base substitution T A intron_variant BRCA-EU 9 84272766 84272766 single base substitution T C intron_variant BRCA-EU 9 84273254 84273254 single base substitution G A intron_variant BRCA-EU 9 84275312 84275312 single base substitution G A intron_variant BRCA-EU 9 84275585 84275585 deletion of <=200bp C - intron_variant BRCA-EU 9 84276520 84276520 single base substitution G A intron_variant BRCA-EU 9 84276712 84276712 single base substitution A G intron_variant BRCA-EU 9 84276749 84276749 single base substitution G T intron_variant BRCA-EU 9 84277781 84277781 single base substitution G C intron_variant BRCA-EU 9 84277793 84277793 single base substitution C T intron_variant BRCA-EU 9 84280210 84280210 single base substitution C G intron_variant BRCA-EU 9 84281499 84281499 single base substitution G C intron_variant BRCA-EU 9 84282555 84282555 single base substitution C G intron_variant BRCA-EU 9 84283434 84283434 deletion of <=200bp A - intron_variant BRCA-EU 9 84283492 84283492 single base substitution A T intron_variant BRCA-EU 9 84284942 84284942 single base substitution A T intron_variant BRCA-EU 9 84285643 84285643 insertion of <=200bp - TA intron_variant BRCA-EU 9 84286817 84286817 single base substitution C T intron_variant BRCA-EU 9 84287013 84287013 single base substitution G A intron_variant BRCA-EU 9 84287727 84287731 deletion of <=200bp TTACT - intron_variant BRCA-EU 9 84287756 84287756 single base substitution G C intron_variant BRCA-EU 9 84287913 84287913 single base substitution C T intron_variant BRCA-EU 9 84289135 84289135 single base substitution C T intron_variant BRCA-EU 9 84291818 84291818 single base substitution A T intron_variant BRCA-EU 9 84295396 84295396 single base substitution C T intron_variant BRCA-EU 9 84295405 84295405 single base substitution G T intron_variant BRCA-EU 9 84295858 84295858 insertion of <=200bp - CA intron_variant BRCA-EU 9 84297647 84297647 single base substitution A G intron_variant BRCA-EU 9 84299037 84299037 deletion of <=200bp A - intron_variant BRCA-EU 9 84299293 84299293 single base substitution C A intron_variant BRCA-EU 9 84300124 84300124 single base substitution A C intron_variant BRCA-EU 9 84300807 84300807 single base substitution T A 5_prime_UTR_variant BRCA-EU 9 84300807 84300807 single base substitution T A stop_gained K44* 130A>T BRCA-EU 9 84302253 84302253 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 9 84302253 84302253 single base substitution G C missense_variant H41D 121C>G BRCA-EU 9 84302657 84302657 single base substitution C A intron_variant BRCA-EU 9 84302657 84302657 single base substitution C A upstream_gene_variant BRCA-EU 9 84303525 84303525 single base substitution G C 5_prime_UTR_variant BRCA-EU 9 84303525 84303525 single base substitution G C upstream_gene_variant BRCA-EU 9 84303632 84303632 deletion of <=200bp G - 5_prime_UTR_variant BRCA-EU 9 84303632 84303632 deletion of <=200bp G - upstream_gene_variant BRCA-EU 9 84304652 84304652 single base substitution C T upstream_gene_variant BRCA-EU 9 84305355 84305355 single base substitution C A upstream_gene_variant BRCA-EU 9 84306094 84306094 single base substitution C G upstream_gene_variant BRCA-EU 9 84307100 84307100 single base substitution G A upstream_gene_variant BRCA-EU 9 84307736 84307736 insertion of <=200bp - T upstream_gene_variant BRCA-FR 9 84200739 84200739 single base substitution C T intron_variant BRCA-FR 9 84204651 84204651 single base substitution G C intron_variant BRCA-FR 9 84216251 84216251 single base substitution T A intron_variant BRCA-FR 9 84217734 84217734 single base substitution C T intron_variant BRCA-FR 9 84218355 84218355 single base substitution C G intron_variant BRCA-FR 9 84223582 84223582 single base substitution T C downstream_gene_variant BRCA-FR 9 84223582 84223582 single base substitution T C intron_variant BRCA-FR 9 84235357 84235357 single base substitution T C downstream_gene_variant BRCA-FR 9 84235357 84235357 single base substitution T C missense_variant Y237C 710A>G BRCA-FR 9 84235357 84235357 single base substitution T C splice_region_variant BRCA-FR 9 84236131 84236131 single base substitution C G intron_variant BRCA-FR 9 84236131 84236131 single base substitution C G upstream_gene_variant BRCA-FR 9 84237916 84237916 single base substitution C T intron_variant BRCA-FR 9 84237916 84237916 single base substitution C T upstream_gene_variant BRCA-FR 9 84242227 84242227 single base substitution C G intron_variant BRCA-FR 9 84250057 84250057 single base substitution G A intron_variant BRCA-FR 9 84252724 84252724 single base substitution C G intron_variant BRCA-FR 9 84254596 84254596 single base substitution C G intron_variant BRCA-FR 9 84257893 84257893 single base substitution C T intron_variant BRCA-FR 9 84257982 84257982 single base substitution C T intron_variant BRCA-FR 9 84263032 84263032 single base substitution C G intron_variant BRCA-FR 9 84269853 84269853 single base substitution T A intron_variant BRCA-FR 9 84276520 84276520 single base substitution G A intron_variant BRCA-FR 9 84282555 84282555 single base substitution C G intron_variant BRCA-FR 9 84289165 84289165 single base substitution C A intron_variant BRCA-FR 9 84292884 84292884 single base substitution G A intron_variant BRCA-FR 9 84306094 84306094 single base substitution C G upstream_gene_variant BRCA-UK 9 84197910 84197910 single base substitution G A downstream_gene_variant BRCA-UK 9 84213002 84213002 single base substitution A T downstream_gene_variant BRCA-UK 9 84213002 84213002 single base substitution A T intron_variant BRCA-UK 9 84231528 84231528 single base substitution C G downstream_gene_variant BRCA-UK 9 84231528 84231528 single base substitution C G intron_variant BRCA-UK 9 84231528 84231528 single base substitution C G upstream_gene_variant BRCA-UK 9 84238600 84238600 single base substitution G A intron_variant BRCA-UK 9 84238600 84238600 single base substitution G A upstream_gene_variant BRCA-UK 9 84248276 84248276 single base substitution C G 5_prime_UTR_variant BRCA-UK 9 84248276 84248276 single base substitution C G downstream_gene_variant BRCA-UK 9 84248276 84248276 single base substitution C G missense_variant R194T 581G>C BRCA-UK 9 84248276 84248276 single base substitution C G missense_variant R204T 611G>C BRCA-UK 9 84257335 84257335 single base substitution C T intron_variant BRCA-UK 9 84258932 84258932 single base substitution C T intron_variant BRCA-UK 9 84289135 84289135 single base substitution C T intron_variant BRCA-UK 9 84305078 84305078 single base substitution G C upstream_gene_variant BRCA-US 9 84202721 84202721 single base substitution C G missense_variant G618R 1852G>C BRCA-US 9 84202727 84202727 single base substitution T C missense_variant T616A 1846A>G BRCA-US 9 84202743 84202743 single base substitution C A missense_variant R610S 1830G>T BRCA-US 9 84235381 84235381 single base substitution A C 5_prime_UTR_variant BRCA-US 9 84235381 84235381 single base substitution A C exon_variant BRCA-US 9 84235381 84235381 single base substitution A C missense_variant V229G 686T>G BRCA-US 9 84235381 84235381 single base substitution A C missense_variant V239G 716T>G BTCA-JP 9 84199206 84199206 single base substitution C T synonymous_variant S740S 2220G>A BTCA-JP 9 84199337 84199337 single base substitution G A intron_variant BTCA-JP 9 84227039 84227039 single base substitution C T intron_variant BTCA-JP 9 84267021 84267021 single base substitution T C intron_variant BTCA-JP 9 84300694 84300694 single base substitution A C intron_variant BTCA-JP 9 84303026 84303026 single base substitution G A intron_variant BTCA-JP 9 84303026 84303026 single base substitution G A upstream_gene_variant CLLE-ES 9 84233546 84233546 single base substitution T G downstream_gene_variant CLLE-ES 9 84233546 84233546 single base substitution T G intron_variant CLLE-ES 9 84250117 84250117 single base substitution T G intron_variant CLLE-ES 9 84252456 84252456 single base substitution C A intron_variant CLLE-ES 9 84281550 84281550 single base substitution C T intron_variant CLLE-ES 9 84282396 84282396 single base substitution G A intron_variant CLLE-ES 9 84282623 84282623 single base substitution T C intron_variant CLLE-ES 9 84297099 84297099 single base substitution G A intron_variant CLLE-ES 9 84299062 84299062 single base substitution T C intron_variant CLLE-ES 9 84300048 84300048 single base substitution C T intron_variant COAD-US 9 84200448 84200448 single base substitution G A synonymous_variant C700C 2100C>T COAD-US 9 84205859 84205859 single base substitution G A missense_variant P564S 1690C>T COAD-US 9 84205889 84205889 single base substitution A C missense_variant L554V 1660T>G COAD-US 9 84208056 84208056 single base substitution C T missense_variant A489T 1465G>A COAD-US 9 84208114 84208114 single base substitution G A synonymous_variant P469P 1407C>T COAD-US 9 84225142 84225142 single base substitution C T downstream_gene_variant COAD-US 9 84225142 84225142 single base substitution C T missense_variant G117R 349G>A COAD-US 9 84225142 84225142 single base substitution C T missense_variant G442R 1324G>A COAD-US 9 84226773 84226773 single base substitution C T exon_variant COAD-US 9 84226773 84226773 single base substitution C T missense_variant A389T 1165G>A COAD-US 9 84226773 84226773 single base substitution C T missense_variant A64T 190G>A COAD-US 9 84300630 84300630 single base substitution A G 5_prime_UTR_variant COAD-US 9 84300630 84300630 single base substitution A G synonymous_variant Y65Y 195T>C COAD-US 9 84300630 84300630 single base substitution A G synonymous_variant Y9Y 27T>C COCA-CN 9 84199316 84199316 single base substitution C T intron_variant COCA-CN 9 84202841 84202841 single base substitution G C intron_variant COCA-CN 9 84202843 84202843 single base substitution G C intron_variant COCA-CN 9 84202844 84202844 single base substitution T A intron_variant COCA-CN 9 84202861 84202861 single base substitution G C intron_variant COCA-CN 9 84202870 84202870 single base substitution A T intron_variant COCA-CN 9 84208249 84208249 single base substitution A G intron_variant COCA-CN 9 84214902 84214902 single base substitution A G 3_prime_UTR_variant COCA-CN 9 84214902 84214902 single base substitution A G downstream_gene_variant COCA-CN 9 84214902 84214902 single base substitution A G intron_variant COCA-CN 9 84215046 84215046 single base substitution G A intron_variant COCA-CN 9 84225100 84225100 single base substitution C A downstream_gene_variant COCA-CN 9 84225100 84225100 single base substitution C A intron_variant COCA-CN 9 84228350 84228350 single base substitution T A exon_variant COCA-CN 9 84228350 84228350 single base substitution T A synonymous_variant P10P 30A>T COCA-CN 9 84228350 84228350 single base substitution T A synonymous_variant P335P 1005A>T COCA-CN 9 84228821 84228821 single base substitution C T intron_variant COCA-CN 9 84228821 84228821 single base substitution C T upstream_gene_variant COCA-CN 9 84228895 84228895 single base substitution C G intron_variant COCA-CN 9 84228895 84228895 single base substitution C G upstream_gene_variant COCA-CN 9 84231075 84231075 single base substitution C T downstream_gene_variant COCA-CN 9 84231075 84231075 single base substitution C T intron_variant COCA-CN 9 84231075 84231075 single base substitution C T upstream_gene_variant COCA-CN 9 84231662 84231662 single base substitution T G downstream_gene_variant COCA-CN 9 84231662 84231662 single base substitution T G intron_variant COCA-CN 9 84231662 84231662 single base substitution T G upstream_gene_variant COCA-CN 9 84235255 84235255 single base substitution G T downstream_gene_variant COCA-CN 9 84235255 84235255 single base substitution G T intron_variant COCA-CN 9 84235334 84235334 single base substitution T G downstream_gene_variant COCA-CN 9 84235334 84235334 single base substitution T G intron_variant COCA-CN 9 84240509 84240509 single base substitution A C intron_variant COCA-CN 9 84253823 84253823 single base substitution C T intron_variant COCA-CN 9 84254494 84254494 single base substitution T G intron_variant COCA-CN 9 84258160 84258160 single base substitution T G intron_variant COCA-CN 9 84267240 84267240 single base substitution G A intron_variant COCA-CN 9 84268758 84268758 single base substitution T G intron_variant COCA-CN 9 84272842 84272842 single base substitution T C intron_variant COCA-CN 9 84275014 84275014 single base substitution C A intron_variant COCA-CN 9 84275052 84275052 single base substitution C A intron_variant COCA-CN 9 84275275 84275275 single base substitution T G intron_variant COCA-CN 9 84304576 84304576 single base substitution T G upstream_gene_variant EOPC-DE 9 84267720 84267720 single base substitution T C intron_variant EOPC-DE 9 84270798 84270798 single base substitution C A intron_variant EOPC-DE 9 84294831 84294831 single base substitution G A intron_variant ESAD-UK 9 84195237 84195237 single base substitution A T downstream_gene_variant ESAD-UK 9 84195855 84195855 single base substitution G A downstream_gene_variant ESAD-UK 9 84196822 84196822 single base substitution G A downstream_gene_variant ESAD-UK 9 84197403 84197403 single base substitution G A downstream_gene_variant ESAD-UK 9 84201515 84201515 single base substitution G T intron_variant ESAD-UK 9 84202992 84202992 single base substitution G T intron_variant ESAD-UK 9 84206374 84206374 single base substitution T C intron_variant ESAD-UK 9 84206474 84206474 single base substitution C T intron_variant ESAD-UK 9 84207324 84207324 single base substitution C G intron_variant ESAD-UK 9 84207540 84207540 single base substitution T G intron_variant ESAD-UK 9 84210029 84210029 single base substitution G A downstream_gene_variant ESAD-UK 9 84210029 84210029 single base substitution G A intron_variant ESAD-UK 9 84210900 84210900 single base substitution G A downstream_gene_variant ESAD-UK 9 84210900 84210900 single base substitution G A intron_variant ESAD-UK 9 84211894 84211894 single base substitution C A downstream_gene_variant ESAD-UK 9 84211894 84211894 single base substitution C A intron_variant ESAD-UK 9 84212428 84212428 single base substitution G A downstream_gene_variant ESAD-UK 9 84212428 84212428 single base substitution G A intron_variant ESAD-UK 9 84213134 84213134 single base substitution C T downstream_gene_variant ESAD-UK 9 84213134 84213134 single base substitution C T intron_variant ESAD-UK 9 84216068 84216068 single base substitution C T intron_variant ESAD-UK 9 84217000 84217000 single base substitution C T intron_variant ESAD-UK 9 84218253 84218253 single base substitution C A intron_variant ESAD-UK 9 84221516 84221516 single base substitution G A intron_variant ESAD-UK 9 84222544 84222544 single base substitution G T downstream_gene_variant ESAD-UK 9 84222544 84222544 single base substitution G T intron_variant ESAD-UK 9 84224390 84224390 single base substitution G C downstream_gene_variant ESAD-UK 9 84224390 84224390 single base substitution G C intron_variant ESAD-UK 9 84226447 84226447 single base substitution C A downstream_gene_variant ESAD-UK 9 84226447 84226447 single base substitution C A intron_variant ESAD-UK 9 84226644 84226644 single base substitution C T downstream_gene_variant ESAD-UK 9 84226644 84226644 single base substitution C T intron_variant ESAD-UK 9 84229711 84229711 single base substitution C A intron_variant ESAD-UK 9 84229711 84229711 single base substitution C A upstream_gene_variant ESAD-UK 9 84231196 84231196 single base substitution G A downstream_gene_variant ESAD-UK 9 84231196 84231196 single base substitution G A intron_variant ESAD-UK 9 84231196 84231196 single base substitution G A upstream_gene_variant ESAD-UK 9 84235336 84235336 insertion of <=200bp - CA downstream_gene_variant ESAD-UK 9 84235336 84235336 insertion of <=200bp - CA intron_variant ESAD-UK 9 84235378 84235378 single base substitution T C 5_prime_UTR_variant ESAD-UK 9 84235378 84235378 single base substitution T C exon_variant ESAD-UK 9 84235378 84235378 single base substitution T C missense_variant D230G 689A>G ESAD-UK 9 84235378 84235378 single base substitution T C missense_variant D240G 719A>G ESAD-UK 9 84236081 84236081 single base substitution T A intron_variant ESAD-UK 9 84236081 84236081 single base substitution T A upstream_gene_variant ESAD-UK 9 84237540 84237540 single base substitution C T intron_variant ESAD-UK 9 84237540 84237540 single base substitution C T upstream_gene_variant ESAD-UK 9 84238978 84238978 single base substitution A C intron_variant ESAD-UK 9 84238978 84238978 single base substitution A C upstream_gene_variant ESAD-UK 9 84239388 84239388 single base substitution T C intron_variant ESAD-UK 9 84239388 84239388 single base substitution T C upstream_gene_variant ESAD-UK 9 84242424 84242424 single base substitution C A intron_variant ESAD-UK 9 84242631 84242631 single base substitution T C intron_variant ESAD-UK 9 84242805 84242805 single base substitution C T intron_variant ESAD-UK 9 84243298 84243298 single base substitution C A intron_variant ESAD-UK 9 84244738 84244738 single base substitution C A downstream_gene_variant ESAD-UK 9 84244738 84244738 single base substitution C A intron_variant ESAD-UK 9 84246992 84246992 single base substitution G A downstream_gene_variant ESAD-UK 9 84246992 84246992 single base substitution G A intron_variant ESAD-UK 9 84247225 84247225 single base substitution C G downstream_gene_variant ESAD-UK 9 84247225 84247225 single base substitution C G intron_variant ESAD-UK 9 84247482 84247482 single base substitution C A downstream_gene_variant ESAD-UK 9 84247482 84247482 single base substitution C A intron_variant ESAD-UK 9 84248353 84248353 single base substitution A G downstream_gene_variant ESAD-UK 9 84248353 84248353 single base substitution A G intron_variant ESAD-UK 9 84252972 84252972 single base substitution C T intron_variant ESAD-UK 9 84254311 84254311 single base substitution G A intron_variant ESAD-UK 9 84254732 84254732 single base substitution C T intron_variant ESAD-UK 9 84255177 84255177 single base substitution G T intron_variant ESAD-UK 9 84257638 84257638 insertion of <=200bp - GAAAG intron_variant ESAD-UK 9 84258466 84258466 single base substitution T G intron_variant ESAD-UK 9 84260467 84260467 single base substitution C A intron_variant ESAD-UK 9 84260807 84260807 single base substitution A G intron_variant ESAD-UK 9 84264463 84264463 single base substitution C A intron_variant ESAD-UK 9 84265901 84265901 single base substitution T G intron_variant ESAD-UK 9 84269677 84269677 single base substitution A G intron_variant ESAD-UK 9 84269973 84269973 single base substitution C T intron_variant ESAD-UK 9 84270840 84270840 single base substitution A T intron_variant ESAD-UK 9 84274874 84274874 single base substitution C T intron_variant ESAD-UK 9 84277223 84277223 single base substitution A C intron_variant ESAD-UK 9 84281516 84281516 single base substitution G A intron_variant ESAD-UK 9 84281724 84281724 deletion of <=200bp A - intron_variant ESAD-UK 9 84284082 84284082 single base substitution G C intron_variant ESAD-UK 9 84284528 84284528 insertion of <=200bp - C intron_variant ESAD-UK 9 84285641 84285641 single base substitution T A intron_variant ESAD-UK 9 84285643 84285643 single base substitution A T intron_variant ESAD-UK 9 84285690 84285690 single base substitution A T intron_variant ESAD-UK 9 84286070 84286070 single base substitution G A intron_variant ESAD-UK 9 84286378 84286378 single base substitution G T intron_variant ESAD-UK 9 84286421 84286421 single base substitution G A intron_variant ESAD-UK 9 84287889 84287889 single base substitution A T intron_variant ESAD-UK 9 84291249 84291249 single base substitution C T intron_variant ESAD-UK 9 84291429 84291429 single base substitution G A intron_variant ESAD-UK 9 84292160 84292160 single base substitution C A intron_variant ESAD-UK 9 84293569 84293569 single base substitution A C intron_variant ESAD-UK 9 84294583 84294583 single base substitution A C intron_variant ESAD-UK 9 84296112 84296112 single base substitution C A intron_variant ESAD-UK 9 84296844 84296844 single base substitution A C intron_variant ESAD-UK 9 84297744 84297744 single base substitution A G intron_variant ESAD-UK 9 84299976 84299976 single base substitution A C intron_variant ESAD-UK 9 84300622 84300622 single base substitution G A 5_prime_UTR_variant ESAD-UK 9 84300622 84300622 single base substitution G A missense_variant S12L 35C>T ESAD-UK 9 84300622 84300622 single base substitution G A missense_variant S68L 203C>T ESAD-UK 9 84301035 84301035 single base substitution G A intron_variant ESAD-UK 9 84302023 84302023 single base substitution C A intron_variant ESAD-UK 9 84302103 84302103 single base substitution G A intron_variant ESAD-UK 9 84304644 84304644 insertion of <=200bp - CTCCT upstream_gene_variant ESAD-UK 9 84305903 84305903 single base substitution G A upstream_gene_variant ESAD-UK 9 84307287 84307287 single base substitution A T upstream_gene_variant ESAD-UK 9 84307767 84307767 single base substitution C T upstream_gene_variant ESCA-CN 9 84200477 84200477 single base substitution T C missense_variant K691E 2071A>G ESCA-CN 9 84268878 84268878 single base substitution A G intron_variant GBM-US 9 84200544 84200544 single base substitution G A synonymous_variant T668T 2004C>T KIRC-US 9 84205823 84205823 single base substitution C T missense_variant A576T 1726G>A LAML-KR 9 84206126 84206126 single base substitution C A intron_variant LAML-KR 9 84207857 84207857 single base substitution A G intron_variant LAML-KR 9 84235367 84235367 single base substitution A G 5_prime_UTR_variant LAML-KR 9 84235367 84235367 single base substitution A G downstream_gene_variant LAML-KR 9 84235367 84235367 single base substitution A G exon_variant LAML-KR 9 84235367 84235367 single base substitution A G missense_variant S234P 700T>C LAML-KR 9 84275256 84275256 single base substitution C A intron_variant LICA-CN 9 84205828 84205828 single base substitution G A missense_variant A574V 1721C>T LICA-FR 9 84210730 84210730 deletion of <=200bp A - downstream_gene_variant LICA-FR 9 84210730 84210730 deletion of <=200bp A - intron_variant LICA-FR 9 84218242 84218242 single base substitution C A intron_variant LICA-FR 9 84220837 84220837 single base substitution T A intron_variant LICA-FR 9 84220848 84220848 single base substitution A G intron_variant LICA-FR 9 84226764 84226764 single base substitution C T exon_variant LICA-FR 9 84226764 84226764 single base substitution C T missense_variant A392T 1174G>A LICA-FR 9 84226764 84226764 single base substitution C T missense_variant A67T 199G>A LICA-FR 9 84228130 84228130 single base substitution C G intron_variant LICA-FR 9 84229910 84229910 single base substitution G C intron_variant LICA-FR 9 84229910 84229910 single base substitution G C upstream_gene_variant LICA-FR 9 84244379 84244379 single base substitution A G downstream_gene_variant LICA-FR 9 84244379 84244379 single base substitution A G intron_variant LICA-FR 9 84247470 84247470 single base substitution A G downstream_gene_variant LICA-FR 9 84247470 84247470 single base substitution A G intron_variant LICA-FR 9 84259948 84259948 single base substitution C T intron_variant LICA-FR 9 84280473 84280473 single base substitution T C intron_variant LICA-FR 9 84292152 84292152 insertion of <=200bp - C intron_variant LIHC-US 9 84208091 84208091 single base substitution T C missense_variant Q477R 1430A>G LIHC-US 9 84208092 84208092 single base substitution G A stop_gained Q477* 1429C>T LIHC-US 9 84208095 84208095 single base substitution G T missense_variant R476S 1426C>A LIHC-US 9 84300807 84300807 single base substitution T C 5_prime_UTR_premature_start_codon_gain_variant LIHC-US 9 84300807 84300807 single base substitution T C missense_variant K44E 130A>G LINC-JP 9 84199287 84199287 single base substitution G A intron_variant LINC-JP 9 84199873 84199873 single base substitution T C intron_variant LINC-JP 9 84202713 84202716 deletion of <=200bp GCTG - frameshift_variant AS619 LINC-JP 9 84202719 84202719 single base substitution T A synonymous_variant G618G 1854A>T LINC-JP 9 84203427 84203427 single base substitution G A intron_variant LINC-JP 9 84208131 84208131 single base substitution C T missense_variant D464N 1390G>A LINC-JP 9 84213392 84213392 single base substitution C T downstream_gene_variant LINC-JP 9 84213392 84213392 single base substitution C T intron_variant LINC-JP 9 84216517 84216517 deletion of <=200bp A - intron_variant LINC-JP 9 84222272 84222272 single base substitution T C downstream_gene_variant LINC-JP 9 84222272 84222272 single base substitution T C intron_variant LINC-JP 9 84226699 84226699 single base substitution G A downstream_gene_variant LINC-JP 9 84226699 84226699 single base substitution G A synonymous_variant Y413Y 1239C>T LINC-JP 9 84226699 84226699 single base substitution G A synonymous_variant Y88Y 264C>T LINC-JP 9 84237323 84237323 single base substitution C A intron_variant LINC-JP 9 84237323 84237323 single base substitution C A upstream_gene_variant LINC-JP 9 84239678 84239678 single base substitution T G intron_variant LINC-JP 9 84239678 84239678 single base substitution T G upstream_gene_variant LINC-JP 9 84242341 84242341 single base substitution T C intron_variant LINC-JP 9 84263604 84263604 single base substitution T C intron_variant LINC-JP 9 84264627 84264627 single base substitution C T intron_variant LINC-JP 9 84265424 84265424 single base substitution T C intron_variant LINC-JP 9 84267110 84267110 single base substitution G T intron_variant LINC-JP 9 84267110 84267110 single base substitution G T missense_variant L131I 391C>A LINC-JP 9 84275454 84275454 single base substitution G A intron_variant LINC-JP 9 84276672 84276672 insertion of <=200bp - C intron_variant LINC-JP 9 84277907 84277907 single base substitution T C intron_variant LINC-JP 9 84287692 84287692 single base substitution T G intron_variant LINC-JP 9 84302473 84302473 deletion of <=200bp C - intron_variant LINC-JP 9 84302473 84302473 deletion of <=200bp C - upstream_gene_variant LINC-JP 9 84303245 84303245 single base substitution G T 5_prime_UTR_variant LINC-JP 9 84303245 84303245 single base substitution G T upstream_gene_variant LIRI-JP 9 84193868 84193871 deletion of <=200bp AAGT - downstream_gene_variant LIRI-JP 9 84193879 84193879 single base substitution G A downstream_gene_variant LIRI-JP 9 84194024 84194024 single base substitution C A downstream_gene_variant LIRI-JP 9 84194678 84194678 single base substitution C G downstream_gene_variant LIRI-JP 9 84196186 84196186 single base substitution A C downstream_gene_variant LIRI-JP 9 84196977 84196977 single base substitution C A downstream_gene_variant LIRI-JP 9 84197616 84197616 single base substitution T A downstream_gene_variant LIRI-JP 9 84197907 84197907 single base substitution C T downstream_gene_variant LIRI-JP 9 84197964 84197964 single base substitution C T downstream_gene_variant LIRI-JP 9 84199921 84199921 single base substitution G C intron_variant LIRI-JP 9 84200547 84200561 deletion of <=200bp GGGGCAGTACCCCAG - inframe_deletion LGYCP663 LIRI-JP 9 84201937 84201937 single base substitution A C intron_variant LIRI-JP 9 84204647 84204647 single base substitution T C intron_variant LIRI-JP 9 84207953 84207963 deletion of <=200bp TGGGAGACAGG - frameshift_variant PVSQ520 LIRI-JP 9 84207994 84207994 single base substitution G C synonymous_variant V509V 1527C>G LIRI-JP 9 84208119 84208119 single base substitution C A stop_gained G468* 1402G>T LIRI-JP 9 84208521 84208521 single base substitution A C intron_variant LIRI-JP 9 84210149 84210149 single base substitution T C downstream_gene_variant LIRI-JP 9 84210149 84210149 single base substitution T C intron_variant LIRI-JP 9 84210878 84210878 single base substitution T C downstream_gene_variant LIRI-JP 9 84210878 84210878 single base substitution T C intron_variant LIRI-JP 9 84211921 84211921 single base substitution T A downstream_gene_variant LIRI-JP 9 84211921 84211921 single base substitution T A intron_variant LIRI-JP 9 84213017 84213017 single base substitution T A downstream_gene_variant LIRI-JP 9 84213017 84213017 single base substitution T A intron_variant LIRI-JP 9 84213282 84213282 single base substitution C T downstream_gene_variant LIRI-JP 9 84213282 84213282 single base substitution C T intron_variant LIRI-JP 9 84217136 84217149 deletion of <=200bp AGCACAGGATGTAA - intron_variant LIRI-JP 9 84217988 84217988 single base substitution A G intron_variant LIRI-JP 9 84219868 84219868 single base substitution A G intron_variant LIRI-JP 9 84221709 84221709 single base substitution T C intron_variant LIRI-JP 9 84221804 84221804 single base substitution T C downstream_gene_variant LIRI-JP 9 84221804 84221804 single base substitution T C intron_variant LIRI-JP 9 84222276 84222277 deletion of <=200bp AG - downstream_gene_variant LIRI-JP 9 84222276 84222277 deletion of <=200bp AG - intron_variant LIRI-JP 9 84228187 84228187 single base substitution T G intron_variant LIRI-JP 9 84229326 84229326 single base substitution G T intron_variant LIRI-JP 9 84229326 84229326 single base substitution G T upstream_gene_variant LIRI-JP 9 84230428 84230428 single base substitution A C downstream_gene_variant LIRI-JP 9 84230428 84230428 single base substitution A C intron_variant LIRI-JP 9 84230428 84230428 single base substitution A C upstream_gene_variant LIRI-JP 9 84231983 84231985 deletion of <=200bp TTA - downstream_gene_variant LIRI-JP 9 84231983 84231985 deletion of <=200bp TTA - intron_variant LIRI-JP 9 84231983 84231985 deletion of <=200bp TTA - upstream_gene_variant LIRI-JP 9 84233392 84233392 deletion of <=200bp T - downstream_gene_variant LIRI-JP 9 84233392 84233392 deletion of <=200bp T - intron_variant LIRI-JP 9 84233392 84233392 deletion of <=200bp T - upstream_gene_variant LIRI-JP 9 84235763 84235763 single base substitution T C intron_variant LIRI-JP 9 84235763 84235763 single base substitution T C upstream_gene_variant LIRI-JP 9 84238223 84238223 single base substitution T C intron_variant LIRI-JP 9 84238223 84238223 single base substitution T C upstream_gene_variant LIRI-JP 9 84239930 84239930 single base substitution T G intron_variant LIRI-JP 9 84239930 84239930 single base substitution T G upstream_gene_variant LIRI-JP 9 84240444 84240444 single base substitution G A intron_variant LIRI-JP 9 84240444 84240444 single base substitution G A upstream_gene_variant LIRI-JP 9 84240445 84240445 single base substitution C A intron_variant LIRI-JP 9 84240445 84240445 single base substitution C A upstream_gene_variant LIRI-JP 9 84241263 84241263 single base substitution C T intron_variant LIRI-JP 9 84242103 84242103 single base substitution T C intron_variant LIRI-JP 9 84242903 84242903 single base substitution G A intron_variant LIRI-JP 9 84244766 84244766 single base substitution C A downstream_gene_variant LIRI-JP 9 84244766 84244766 single base substitution C A intron_variant LIRI-JP 9 84249049 84249049 deletion of <=200bp T - 5_prime_UTR_variant LIRI-JP 9 84249049 84249049 deletion of <=200bp T - frameshift_variant K124 LIRI-JP 9 84249049 84249049 deletion of <=200bp T - frameshift_variant K180 LIRI-JP 9 84249049 84249049 deletion of <=200bp T - frameshift_variant K190 LIRI-JP 9 84249862 84249862 single base substitution C A intron_variant LIRI-JP 9 84250969 84250969 single base substitution T C intron_variant LIRI-JP 9 84252270 84252270 single base substitution T G intron_variant LIRI-JP 9 84252760 84252760 single base substitution T C intron_variant LIRI-JP 9 84252788 84252788 single base substitution T C intron_variant LIRI-JP 9 84253934 84253934 single base substitution C T intron_variant LIRI-JP 9 84256016 84256016 single base substitution G A intron_variant LIRI-JP 9 84256407 84256407 single base substitution T A intron_variant LIRI-JP 9 84256664 84256664 single base substitution G A intron_variant LIRI-JP 9 84258830 84258830 single base substitution T G intron_variant LIRI-JP 9 84264324 84264324 single base substitution G C intron_variant LIRI-JP 9 84265621 84265621 single base substitution C G intron_variant LIRI-JP 9 84266527 84266527 single base substitution T C intron_variant LIRI-JP 9 84266713 84266713 single base substitution A G intron_variant LIRI-JP 9 84266930 84266931 deletion of <=200bp TA - intron_variant LIRI-JP 9 84267473 84267473 single base substitution G C intron_variant LIRI-JP 9 84268382 84268382 single base substitution T A intron_variant LIRI-JP 9 84268502 84268502 single base substitution T C intron_variant LIRI-JP 9 84268926 84268926 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant LIRI-JP 9 84268926 84268926 single base substitution G A missense_variant T31M 92C>T LIRI-JP 9 84268926 84268926 single base substitution G A missense_variant T87M 260C>T LIRI-JP 9 84269711 84269712 deletion of <=200bp TG - intron_variant LIRI-JP 9 84270268 84270268 single base substitution T C intron_variant LIRI-JP 9 84273902 84273902 single base substitution C A intron_variant LIRI-JP 9 84277962 84277962 single base substitution T C intron_variant LIRI-JP 9 84280693 84280693 single base substitution C A intron_variant LIRI-JP 9 84282550 84282550 single base substitution T C intron_variant LIRI-JP 9 84283289 84283289 single base substitution A C intron_variant LIRI-JP 9 84287518 84287518 single base substitution A G intron_variant LIRI-JP 9 84287839 84287839 deletion of <=200bp C - intron_variant LIRI-JP 9 84287872 84287872 single base substitution G A intron_variant LIRI-JP 9 84287876 84287876 single base substitution T C intron_variant LIRI-JP 9 84289078 84289078 single base substitution T A intron_variant LIRI-JP 9 84289187 84289187 single base substitution T C intron_variant LIRI-JP 9 84289753 84289753 insertion of <=200bp - C intron_variant LIRI-JP 9 84289779 84289779 single base substitution G A intron_variant LIRI-JP 9 84291433 84291433 single base substitution A G intron_variant LIRI-JP 9 84293837 84293837 single base substitution C T intron_variant LIRI-JP 9 84295401 84295401 single base substitution T C intron_variant LIRI-JP 9 84295463 84295463 single base substitution C A intron_variant LIRI-JP 9 84295652 84295652 single base substitution C T intron_variant LIRI-JP 9 84296760 84296760 single base substitution T C intron_variant LIRI-JP 9 84297525 84297525 single base substitution T C intron_variant LIRI-JP 9 84298119 84298119 single base substitution A C intron_variant LIRI-JP 9 84298838 84298838 deletion of <=200bp T - intron_variant LIRI-JP 9 84300905 84300905 single base substitution C T intron_variant LIRI-JP 9 84301884 84301884 single base substitution T C intron_variant LIRI-JP 9 84306353 84306353 single base substitution G T upstream_gene_variant LIRI-JP 9 84307404 84307404 single base substitution C A upstream_gene_variant LIRI-JP 9 84307647 84307647 single base substitution T C upstream_gene_variant LIRI-JP 9 84307810 84307810 single base substitution T G upstream_gene_variant LIRI-JP 9 84309056 84309056 single base substitution G A upstream_gene_variant LUSC-KR 9 84199293 84199293 single base substitution A G intron_variant LUSC-KR 9 84203635 84203635 single base substitution G A intron_variant LUSC-KR 9 84207771 84207771 single base substitution G A intron_variant LUSC-KR 9 84214719 84214719 single base substitution A C downstream_gene_variant LUSC-KR 9 84214719 84214719 single base substitution A C intron_variant LUSC-KR 9 84215626 84215626 single base substitution C A intron_variant LUSC-KR 9 84222212 84222212 single base substitution A T downstream_gene_variant LUSC-KR 9 84222212 84222212 single base substitution A T intron_variant LUSC-KR 9 84223303 84223303 single base substitution C A downstream_gene_variant LUSC-KR 9 84223303 84223303 single base substitution C A intron_variant LUSC-KR 9 84228950 84228950 single base substitution G A intron_variant LUSC-KR 9 84228950 84228950 single base substitution G A upstream_gene_variant LUSC-KR 9 84235545 84235545 single base substitution G C intron_variant LUSC-KR 9 84235545 84235545 single base substitution G C upstream_gene_variant LUSC-KR 9 84239404 84239404 single base substitution C A intron_variant LUSC-KR 9 84239404 84239404 single base substitution C A upstream_gene_variant LUSC-KR 9 84247062 84247062 single base substitution C A downstream_gene_variant LUSC-KR 9 84247062 84247062 single base substitution C A intron_variant LUSC-KR 9 84252229 84252229 single base substitution T C intron_variant LUSC-KR 9 84253702 84253702 single base substitution G A intron_variant LUSC-KR 9 84253808 84253808 single base substitution G C intron_variant LUSC-KR 9 84258012 84258012 single base substitution C T intron_variant LUSC-KR 9 84261375 84261375 single base substitution C T intron_variant LUSC-KR 9 84268878 84268878 single base substitution A G intron_variant LUSC-KR 9 84270086 84270086 single base substitution C A intron_variant LUSC-KR 9 84270256 84270256 single base substitution C A intron_variant LUSC-KR 9 84270785 84270785 single base substitution G C intron_variant LUSC-KR 9 84276266 84276266 single base substitution C A intron_variant LUSC-KR 9 84278593 84278593 single base substitution A T intron_variant LUSC-KR 9 84280339 84280339 single base substitution G C intron_variant LUSC-KR 9 84280791 84280791 single base substitution A T intron_variant LUSC-KR 9 84290311 84290311 single base substitution G C intron_variant LUSC-KR 9 84292160 84292160 single base substitution C A intron_variant LUSC-KR 9 84292727 84292727 single base substitution G A intron_variant LUSC-KR 9 84301995 84301995 single base substitution T A intron_variant LUSC-KR 9 84302492 84302492 single base substitution C T intron_variant LUSC-KR 9 84302492 84302492 single base substitution C T upstream_gene_variant LUSC-KR 9 84304329 84304329 single base substitution G A upstream_gene_variant LUSC-KR 9 84304817 84304817 single base substitution G A upstream_gene_variant LUSC-KR 9 84308192 84308192 single base substitution G T upstream_gene_variant LUSC-US 9 84199166 84199166 single base substitution T C missense_variant I754V 2260A>G LUSC-US 9 84202721 84202721 single base substitution C G missense_variant G618R 1852G>C LUSC-US 9 84231614 84231614 single base substitution C A downstream_gene_variant LUSC-US 9 84231614 84231614 single base substitution C A missense_variant D238Y 712G>T LUSC-US 9 84231614 84231614 single base substitution C A splice_region_variant LUSC-US 9 84231614 84231614 single base substitution C A upstream_gene_variant LUSC-US 9 84249063 84249063 single base substitution G A 5_prime_UTR_variant LUSC-US 9 84249063 84249063 single base substitution G A missense_variant H120Y 358C>T LUSC-US 9 84249063 84249063 single base substitution G A missense_variant H176Y 526C>T LUSC-US 9 84249063 84249063 single base substitution G A missense_variant H186Y 556C>T MALY-DE 9 84197998 84197998 single base substitution A T downstream_gene_variant MALY-DE 9 84198000 84198000 single base substitution A T downstream_gene_variant MALY-DE 9 84198283 84198283 single base substitution T C downstream_gene_variant MALY-DE 9 84203815 84203815 single base substitution T G intron_variant MALY-DE 9 84208279 84208279 single base substitution G C intron_variant MALY-DE 9 84208546 84208546 single base substitution T C intron_variant MALY-DE 9 84208662 84208662 insertion of <=200bp - A intron_variant MALY-DE 9 84209267 84209267 deletion of <=200bp A - intron_variant MALY-DE 9 84210311 84210311 single base substitution G C downstream_gene_variant MALY-DE 9 84210311 84210311 single base substitution G C intron_variant MALY-DE 9 84212928 84212928 single base substitution A C downstream_gene_variant MALY-DE 9 84212928 84212928 single base substitution A C intron_variant MALY-DE 9 84213580 84213580 single base substitution C A downstream_gene_variant MALY-DE 9 84213580 84213580 single base substitution C A intron_variant MALY-DE 9 84217153 84217153 single base substitution A C intron_variant MALY-DE 9 84218204 84218204 single base substitution T A intron_variant MALY-DE 9 84218917 84218917 insertion of <=200bp - A intron_variant MALY-DE 9 84220049 84220049 single base substitution T A intron_variant MALY-DE 9 84221715 84221715 single base substitution T G intron_variant MALY-DE 9 84223516 84223516 single base substitution A G downstream_gene_variant MALY-DE 9 84223516 84223516 single base substitution A G intron_variant MALY-DE 9 84223947 84223949 deletion of <=200bp AAC - downstream_gene_variant MALY-DE 9 84223947 84223949 deletion of <=200bp AAC - intron_variant MALY-DE 9 84224580 84224580 single base substitution G C downstream_gene_variant MALY-DE 9 84224580 84224580 single base substitution G C intron_variant MALY-DE 9 84225118 84225118 single base substitution G T downstream_gene_variant MALY-DE 9 84225118 84225118 single base substitution G T intron_variant MALY-DE 9 84231069 84231069 single base substitution A C downstream_gene_variant MALY-DE 9 84231069 84231069 single base substitution A C intron_variant MALY-DE 9 84231069 84231069 single base substitution A C upstream_gene_variant MALY-DE 9 84231541 84231541 single base substitution T G downstream_gene_variant MALY-DE 9 84231541 84231541 single base substitution T G intron_variant MALY-DE 9 84231541 84231541 single base substitution T G upstream_gene_variant MALY-DE 9 84231619 84231619 insertion of <=200bp - A downstream_gene_variant MALY-DE 9 84231619 84231619 insertion of <=200bp - A splice_region_variant MALY-DE 9 84231619 84231619 insertion of <=200bp - A upstream_gene_variant MALY-DE 9 84235085 84235085 single base substitution C A downstream_gene_variant MALY-DE 9 84235085 84235085 single base substitution C A intron_variant MALY-DE 9 84240137 84240137 single base substitution G T intron_variant MALY-DE 9 84240137 84240137 single base substitution G T upstream_gene_variant MALY-DE 9 84241722 84241722 single base substitution C T intron_variant MALY-DE 9 84242474 84242474 single base substitution T C intron_variant MALY-DE 9 84243700 84243700 single base substitution C A downstream_gene_variant MALY-DE 9 84243700 84243700 single base substitution C A intron_variant MALY-DE 9 84243827 84243827 single base substitution T C downstream_gene_variant MALY-DE 9 84243827 84243827 single base substitution T C intron_variant MALY-DE 9 84244981 84244981 single base substitution G A downstream_gene_variant MALY-DE 9 84244981 84244981 single base substitution G A intron_variant MALY-DE 9 84249394 84249394 deletion of <=200bp A - intron_variant MALY-DE 9 84249734 84249734 single base substitution C A intron_variant MALY-DE 9 84250644 84250644 single base substitution C T intron_variant MALY-DE 9 84252350 84252350 single base substitution T C intron_variant MALY-DE 9 84257080 84257080 single base substitution C G intron_variant MALY-DE 9 84262221 84262221 single base substitution C G intron_variant MALY-DE 9 84262836 84262836 single base substitution T A intron_variant MALY-DE 9 84263542 84263542 single base substitution C T intron_variant MALY-DE 9 84265241 84265241 single base substitution A G intron_variant MALY-DE 9 84265804 84265804 single base substitution T A intron_variant MALY-DE 9 84266125 84266125 single base substitution T A intron_variant MALY-DE 9 84270482 84270482 single base substitution G A intron_variant MALY-DE 9 84273467 84273467 single base substitution A C intron_variant MALY-DE 9 84273467 84273467 single base substitution A G intron_variant MALY-DE 9 84274924 84274924 single base substitution T C intron_variant MALY-DE 9 84282624 84282624 single base substitution A T intron_variant MALY-DE 9 84285403 84285403 single base substitution G T intron_variant MALY-DE 9 84287673 84287674 deletion of <=200bp AC - intron_variant MALY-DE 9 84292147 84292147 single base substitution G A intron_variant MALY-DE 9 84292161 84292161 single base substitution A C intron_variant MALY-DE 9 84295980 84295980 single base substitution G A intron_variant MALY-DE 9 84299868 84299868 single base substitution T A intron_variant MALY-DE 9 84302791 84302791 single base substitution A C intron_variant MALY-DE 9 84302791 84302791 single base substitution A C upstream_gene_variant MALY-DE 9 84306198 84306198 single base substitution G C upstream_gene_variant MELA-AU 9 84194006 84194006 single base substitution G A downstream_gene_variant MELA-AU 9 84194614 84194614 single base substitution G A downstream_gene_variant MELA-AU 9 84194704 84194704 single base substitution G A downstream_gene_variant MELA-AU 9 84195171 84195171 single base substitution G A downstream_gene_variant MELA-AU 9 84195431 84195431 single base substitution G A downstream_gene_variant MELA-AU 9 84195507 84195507 single base substitution G A downstream_gene_variant MELA-AU 9 84196588 84196588 single base substitution G A downstream_gene_variant MELA-AU 9 84196679 84196679 single base substitution G A downstream_gene_variant MELA-AU 9 84196994 84196994 single base substitution G A downstream_gene_variant MELA-AU 9 84197984 84197984 single base substitution A T downstream_gene_variant MELA-AU 9 84198744 84198744 single base substitution G A 3_prime_UTR_variant MELA-AU 9 84198830 84198830 single base substitution G A 3_prime_UTR_variant MELA-AU 9 84199366 84199366 single base substitution G A synonymous_variant F734F 2202C>T MELA-AU 9 84201201 84201201 single base substitution G A intron_variant MELA-AU 9 84201262 84201262 single base substitution G A intron_variant MELA-AU 9 84201557 84201557 single base substitution G A intron_variant MELA-AU 9 84202079 84202079 single base substitution G A intron_variant MELA-AU 9 84202519 84202519 single base substitution G A intron_variant MELA-AU 9 84202791 84202791 single base substitution G A intron_variant MELA-AU 9 84202957 84202957 single base substitution G A intron_variant MELA-AU 9 84203338 84203338 single base substitution G A intron_variant MELA-AU 9 84203643 84203643 single base substitution G A intron_variant MELA-AU 9 84203831 84203831 single base substitution G A intron_variant MELA-AU 9 84205186 84205186 single base substitution G A intron_variant MELA-AU 9 84205390 84205390 single base substitution G T intron_variant MELA-AU 9 84205949 84205949 single base substitution G A missense_variant R534C 1600C>T MELA-AU 9 84205950 84205950 single base substitution G A synonymous_variant I533I 1599C>T MELA-AU 9 84206253 84206253 single base substitution G A intron_variant MELA-AU 9 84206965 84206965 single base substitution G A intron_variant MELA-AU 9 84207131 84207131 single base substitution G A intron_variant MELA-AU 9 84207187 84207187 single base substitution G A intron_variant MELA-AU 9 84207867 84207867 single base substitution G A intron_variant MELA-AU 9 84207958 84207958 single base substitution G A synonymous_variant V521V 1563C>T MELA-AU 9 84208114 84208114 single base substitution G A synonymous_variant P469P 1407C>T MELA-AU 9 84208592 84208592 single base substitution A T intron_variant MELA-AU 9 84208961 84208961 single base substitution G A intron_variant MELA-AU 9 84210632 84210632 single base substitution G A downstream_gene_variant MELA-AU 9 84210632 84210632 single base substitution G A intron_variant MELA-AU 9 84210809 84210809 single base substitution G A downstream_gene_variant MELA-AU 9 84210809 84210809 single base substitution G A intron_variant MELA-AU 9 84210964 84210964 single base substitution G A downstream_gene_variant MELA-AU 9 84210964 84210964 single base substitution G A intron_variant MELA-AU 9 84211356 84211356 single base substitution G A downstream_gene_variant MELA-AU 9 84211356 84211356 single base substitution G A intron_variant MELA-AU 9 84212056 84212056 single base substitution G A downstream_gene_variant MELA-AU 9 84212056 84212056 single base substitution G A intron_variant MELA-AU 9 84212300 84212300 single base substitution G A downstream_gene_variant MELA-AU 9 84212300 84212300 single base substitution G A intron_variant MELA-AU 9 84212749 84212749 single base substitution G A downstream_gene_variant MELA-AU 9 84212749 84212749 single base substitution G A intron_variant MELA-AU 9 84212796 84212796 single base substitution G A downstream_gene_variant MELA-AU 9 84212796 84212796 single base substitution G A intron_variant MELA-AU 9 84212963 84212963 single base substitution G A downstream_gene_variant MELA-AU 9 84212963 84212963 single base substitution G A intron_variant MELA-AU 9 84214140 84214140 single base substitution G A downstream_gene_variant MELA-AU 9 84214140 84214140 single base substitution G A intron_variant MELA-AU 9 84214165 84214165 single base substitution A G downstream_gene_variant MELA-AU 9 84214165 84214165 single base substitution A G intron_variant MELA-AU 9 84214666 84214666 single base substitution G A downstream_gene_variant MELA-AU 9 84214666 84214666 single base substitution G A intron_variant MELA-AU 9 84216149 84216149 single base substitution G A intron_variant MELA-AU 9 84216751 84216751 single base substitution G A intron_variant MELA-AU 9 84216989 84216989 single base substitution C T intron_variant MELA-AU 9 84217058 84217058 single base substitution G A intron_variant MELA-AU 9 84217600 84217600 single base substitution C T intron_variant MELA-AU 9 84218134 84218134 single base substitution T C intron_variant MELA-AU 9 84218469 84218469 single base substitution G A intron_variant MELA-AU 9 84218906 84218907 multiple base substitution (>=2bp and <=200bp) GA AC intron_variant MELA-AU 9 84219934 84219934 single base substitution A G intron_variant MELA-AU 9 84220129 84220129 single base substitution C T intron_variant MELA-AU 9 84224728 84224728 single base substitution A T downstream_gene_variant MELA-AU 9 84224728 84224728 single base substitution A T intron_variant MELA-AU 9 84224861 84224861 single base substitution G A downstream_gene_variant MELA-AU 9 84224861 84224861 single base substitution G A intron_variant MELA-AU 9 84224948 84224948 single base substitution G A downstream_gene_variant MELA-AU 9 84224948 84224948 single base substitution G A intron_variant MELA-AU 9 84225895 84225895 single base substitution G A downstream_gene_variant MELA-AU 9 84225895 84225895 single base substitution G A intron_variant MELA-AU 9 84225955 84225955 single base substitution G A downstream_gene_variant MELA-AU 9 84225955 84225955 single base substitution G A intron_variant MELA-AU 9 84226716 84226716 single base substitution C T downstream_gene_variant MELA-AU 9 84226716 84226716 single base substitution C T missense_variant A408T 1222G>A MELA-AU 9 84226716 84226716 single base substitution C T missense_variant A83T 247G>A MELA-AU 9 84226742 84226742 single base substitution G A downstream_gene_variant MELA-AU 9 84226742 84226742 single base substitution G A exon_variant MELA-AU 9 84226742 84226742 single base substitution G A missense_variant P399L 1196C>T MELA-AU 9 84226742 84226742 single base substitution G A missense_variant P74L 221C>T MELA-AU 9 84227084 84227084 single base substitution G A intron_variant MELA-AU 9 84227084 84227085 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 9 84227172 84227172 single base substitution G A intron_variant MELA-AU 9 84228112 84228112 single base substitution G A intron_variant MELA-AU 9 84229480 84229480 single base substitution G A intron_variant MELA-AU 9 84229480 84229480 single base substitution G A upstream_gene_variant MELA-AU 9 84229746 84229746 single base substitution A T intron_variant MELA-AU 9 84229746 84229746 single base substitution A T upstream_gene_variant MELA-AU 9 84230064 84230064 single base substitution G A intron_variant MELA-AU 9 84230064 84230064 single base substitution G A upstream_gene_variant MELA-AU 9 84230237 84230237 single base substitution C T intron_variant MELA-AU 9 84230237 84230237 single base substitution C T upstream_gene_variant MELA-AU 9 84230728 84230728 single base substitution A T downstream_gene_variant MELA-AU 9 84230728 84230728 single base substitution A T intron_variant MELA-AU 9 84230728 84230728 single base substitution A T upstream_gene_variant MELA-AU 9 84230986 84230986 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 9 84230986 84230986 single base substitution G A downstream_gene_variant MELA-AU 9 84230986 84230986 single base substitution G A exon_variant MELA-AU 9 84230986 84230986 single base substitution G A missense_variant R277C 829C>T MELA-AU 9 84230986 84230986 single base substitution G A upstream_gene_variant MELA-AU 9 84232624 84232624 single base substitution T A downstream_gene_variant MELA-AU 9 84232624 84232624 single base substitution T A intron_variant MELA-AU 9 84232624 84232624 single base substitution T A upstream_gene_variant MELA-AU 9 84236739 84236739 single base substitution G A intron_variant MELA-AU 9 84236739 84236739 single base substitution G A upstream_gene_variant MELA-AU 9 84237255 84237255 single base substitution T A intron_variant MELA-AU 9 84237255 84237255 single base substitution T A upstream_gene_variant MELA-AU 9 84238232 84238232 single base substitution C T intron_variant MELA-AU 9 84238232 84238232 single base substitution C T upstream_gene_variant MELA-AU 9 84238312 84238312 single base substitution G A intron_variant MELA-AU 9 84238312 84238312 single base substitution G A upstream_gene_variant MELA-AU 9 84239428 84239428 single base substitution G A intron_variant MELA-AU 9 84239428 84239428 single base substitution G A upstream_gene_variant MELA-AU 9 84239530 84239530 single base substitution T A intron_variant MELA-AU 9 84239530 84239530 single base substitution T A upstream_gene_variant MELA-AU 9 84240503 84240503 single base substitution G A intron_variant MELA-AU 9 84240871 84240871 single base substitution C T intron_variant MELA-AU 9 84241153 84241153 single base substitution A C intron_variant MELA-AU 9 84242126 84242126 single base substitution G A intron_variant MELA-AU 9 84242646 84242646 single base substitution T A intron_variant MELA-AU 9 84242775 84242775 single base substitution C A intron_variant MELA-AU 9 84243513 84243513 single base substitution A C downstream_gene_variant MELA-AU 9 84243513 84243513 single base substitution A C intron_variant MELA-AU 9 84243574 84243575 multiple base substitution (>=2bp and <=200bp) TA AC downstream_gene_variant MELA-AU 9 84243574 84243575 multiple base substitution (>=2bp and <=200bp) TA AC intron_variant MELA-AU 9 84245395 84245395 single base substitution G A downstream_gene_variant MELA-AU 9 84245395 84245395 single base substitution G A intron_variant MELA-AU 9 84246778 84246778 single base substitution G A downstream_gene_variant MELA-AU 9 84246778 84246778 single base substitution G A intron_variant MELA-AU 9 84247247 84247247 single base substitution T C downstream_gene_variant MELA-AU 9 84247247 84247247 single base substitution T C intron_variant MELA-AU 9 84247315 84247315 single base substitution G T downstream_gene_variant MELA-AU 9 84247315 84247315 single base substitution G T intron_variant MELA-AU 9 84248359 84248359 single base substitution G A downstream_gene_variant MELA-AU 9 84248359 84248359 single base substitution G A intron_variant MELA-AU 9 84248504 84248504 single base substitution T A 3_prime_UTR_variant MELA-AU 9 84248504 84248504 single base substitution T A intron_variant MELA-AU 9 84248514 84248514 single base substitution C T 3_prime_UTR_variant MELA-AU 9 84248514 84248514 single base substitution C T intron_variant MELA-AU 9 84248676 84248676 single base substitution C T 3_prime_UTR_variant MELA-AU 9 84248676 84248676 single base substitution C T intron_variant MELA-AU 9 84248895 84248895 single base substitution C T 3_prime_UTR_variant MELA-AU 9 84248895 84248895 single base substitution C T intron_variant MELA-AU 9 84249302 84249302 single base substitution G A intron_variant MELA-AU 9 84249518 84249518 single base substitution G A intron_variant MELA-AU 9 84249520 84249520 single base substitution G A intron_variant MELA-AU 9 84249664 84249664 single base substitution G A intron_variant MELA-AU 9 84250115 84250115 single base substitution A G intron_variant MELA-AU 9 84250396 84250396 single base substitution G A intron_variant MELA-AU 9 84252033 84252033 single base substitution G A intron_variant MELA-AU 9 84252136 84252136 single base substitution G A intron_variant MELA-AU 9 84252512 84252512 single base substitution G A intron_variant MELA-AU 9 84252884 84252884 single base substitution G A intron_variant MELA-AU 9 84255050 84255050 single base substitution G A intron_variant MELA-AU 9 84255368 84255368 single base substitution G A intron_variant MELA-AU 9 84256007 84256007 single base substitution G T intron_variant MELA-AU 9 84256311 84256311 single base substitution G A intron_variant MELA-AU 9 84257196 84257196 single base substitution G A intron_variant MELA-AU 9 84257197 84257197 single base substitution G A intron_variant MELA-AU 9 84258927 84258927 single base substitution G A intron_variant MELA-AU 9 84259029 84259029 single base substitution G A intron_variant MELA-AU 9 84259089 84259090 multiple base substitution (>=2bp and <=200bp) CA GT intron_variant MELA-AU 9 84259176 84259176 single base substitution A G intron_variant MELA-AU 9 84260203 84260203 single base substitution G A intron_variant MELA-AU 9 84260420 84260420 single base substitution C T intron_variant MELA-AU 9 84260566 84260566 single base substitution A C intron_variant MELA-AU 9 84261077 84261077 deletion of <=200bp T - intron_variant MELA-AU 9 84261218 84261218 single base substitution G A intron_variant MELA-AU 9 84261735 84261735 single base substitution C T intron_variant MELA-AU 9 84261800 84261800 single base substitution G A intron_variant MELA-AU 9 84262395 84262395 single base substitution C T intron_variant MELA-AU 9 84262486 84262486 single base substitution A G intron_variant MELA-AU 9 84262598 84262598 single base substitution G A intron_variant MELA-AU 9 84263314 84263314 single base substitution G A intron_variant MELA-AU 9 84263548 84263548 single base substitution G A intron_variant MELA-AU 9 84265677 84265677 single base substitution T C intron_variant MELA-AU 9 84265899 84265899 single base substitution G A intron_variant MELA-AU 9 84266763 84266763 single base substitution G A intron_variant MELA-AU 9 84266887 84266887 single base substitution G A intron_variant MELA-AU 9 84267875 84267875 single base substitution G A intron_variant MELA-AU 9 84268105 84268105 single base substitution G A intron_variant MELA-AU 9 84268944 84268944 single base substitution A T 5_prime_UTR_variant MELA-AU 9 84268944 84268944 single base substitution A T missense_variant I25N 74T>A MELA-AU 9 84268944 84268944 single base substitution A T missense_variant I81N 242T>A MELA-AU 9 84269319 84269319 single base substitution G A intron_variant MELA-AU 9 84269757 84269757 single base substitution G A intron_variant MELA-AU 9 84270609 84270609 single base substitution G A intron_variant MELA-AU 9 84270989 84270989 single base substitution G A intron_variant MELA-AU 9 84271350 84271350 single base substitution C T intron_variant MELA-AU 9 84272928 84272928 single base substitution G A intron_variant MELA-AU 9 84273670 84273670 single base substitution C T intron_variant MELA-AU 9 84275335 84275335 single base substitution T A intron_variant MELA-AU 9 84275392 84275392 single base substitution G A intron_variant MELA-AU 9 84276121 84276121 single base substitution T A intron_variant MELA-AU 9 84276680 84276680 single base substitution C A intron_variant MELA-AU 9 84277496 84277496 single base substitution C T intron_variant MELA-AU 9 84278761 84278761 single base substitution G A intron_variant MELA-AU 9 84279017 84279017 single base substitution G A intron_variant MELA-AU 9 84279457 84279460 deletion of <=200bp CACA - intron_variant MELA-AU 9 84279598 84279598 single base substitution G A intron_variant MELA-AU 9 84281335 84281335 single base substitution G A intron_variant MELA-AU 9 84281468 84281468 single base substitution G A intron_variant MELA-AU 9 84281692 84281692 insertion of <=200bp - AAAT intron_variant MELA-AU 9 84283103 84283103 single base substitution T C intron_variant MELA-AU 9 84283273 84283273 single base substitution G A intron_variant MELA-AU 9 84283551 84283551 single base substitution T A intron_variant MELA-AU 9 84283585 84283585 single base substitution G A intron_variant MELA-AU 9 84285359 84285359 single base substitution G C intron_variant MELA-AU 9 84285802 84285802 single base substitution G A intron_variant MELA-AU 9 84286474 84286474 single base substitution C T intron_variant MELA-AU 9 84286557 84286557 single base substitution C G intron_variant MELA-AU 9 84286756 84286756 single base substitution C T intron_variant MELA-AU 9 84287496 84287496 single base substitution C T intron_variant MELA-AU 9 84288270 84288270 single base substitution G A intron_variant MELA-AU 9 84288671 84288671 single base substitution C T intron_variant MELA-AU 9 84288684 84288684 single base substitution T C intron_variant MELA-AU 9 84288880 84288880 single base substitution C T intron_variant MELA-AU 9 84289237 84289237 single base substitution A G intron_variant MELA-AU 9 84289261 84289261 single base substitution G A intron_variant MELA-AU 9 84289611 84289611 single base substitution G A intron_variant MELA-AU 9 84290053 84290053 single base substitution G A intron_variant MELA-AU 9 84290696 84290696 single base substitution A G intron_variant MELA-AU 9 84291745 84291745 single base substitution G A intron_variant MELA-AU 9 84291928 84291928 single base substitution G A intron_variant MELA-AU 9 84292395 84292395 single base substitution G A intron_variant MELA-AU 9 84292407 84292407 single base substitution G A intron_variant MELA-AU 9 84293199 84293199 single base substitution C T intron_variant MELA-AU 9 84293445 84293445 single base substitution G A intron_variant MELA-AU 9 84293593 84293593 single base substitution G A intron_variant MELA-AU 9 84294272 84294272 single base substitution A G intron_variant MELA-AU 9 84295796 84295796 single base substitution G A intron_variant MELA-AU 9 84295856 84295856 single base substitution A C intron_variant MELA-AU 9 84296290 84296290 single base substitution A G intron_variant MELA-AU 9 84297205 84297206 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 9 84301270 84301271 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 9 84303703 84303703 single base substitution C T 5_prime_UTR_variant MELA-AU 9 84303703 84303703 single base substitution C T upstream_gene_variant MELA-AU 9 84304179 84304179 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 9 84304179 84304179 single base substitution G A upstream_gene_variant MELA-AU 9 84304646 84304646 single base substitution C T upstream_gene_variant MELA-AU 9 84304696 84304696 single base substitution C T upstream_gene_variant MELA-AU 9 84306002 84306002 single base substitution G A upstream_gene_variant MELA-AU 9 84307508 84307508 single base substitution T C upstream_gene_variant MELA-AU 9 84307826 84307826 single base substitution G A upstream_gene_variant MELA-AU 9 84308148 84308148 single base substitution C T upstream_gene_variant MELA-AU 9 84309208 84309208 single base substitution C G upstream_gene_variant ORCA-IN 9 84198174 84198174 single base substitution C A downstream_gene_variant ORCA-IN 9 84206350 84206350 single base substitution G A intron_variant ORCA-IN 9 84222646 84222646 single base substitution G C downstream_gene_variant ORCA-IN 9 84222646 84222646 single base substitution G C intron_variant ORCA-IN 9 84222809 84222809 single base substitution A G downstream_gene_variant ORCA-IN 9 84222809 84222809 single base substitution A G intron_variant ORCA-IN 9 84229047 84229047 single base substitution T A intron_variant ORCA-IN 9 84229047 84229047 single base substitution T A upstream_gene_variant ORCA-IN 9 84238906 84238906 single base substitution T A intron_variant ORCA-IN 9 84238906 84238906 single base substitution T A upstream_gene_variant ORCA-IN 9 84248229 84248229 single base substitution T C downstream_gene_variant ORCA-IN 9 84248229 84248229 single base substitution T C intron_variant ORCA-IN 9 84257641 84257641 insertion of <=200bp - G intron_variant ORCA-IN 9 84284311 84284311 single base substitution T C intron_variant ORCA-IN 9 84293704 84293704 single base substitution G A intron_variant OV-AU 9 84208995 84208995 single base substitution C T intron_variant OV-AU 9 84209998 84209998 single base substitution G C downstream_gene_variant OV-AU 9 84209998 84209998 single base substitution G C intron_variant OV-AU 9 84210066 84210066 single base substitution C A downstream_gene_variant OV-AU 9 84210066 84210066 single base substitution C A intron_variant OV-AU 9 84210974 84210974 single base substitution T C downstream_gene_variant OV-AU 9 84210974 84210974 single base substitution T C intron_variant OV-AU 9 84223525 84223525 single base substitution A C downstream_gene_variant OV-AU 9 84223525 84223525 single base substitution A C intron_variant OV-AU 9 84223810 84223810 single base substitution C G downstream_gene_variant OV-AU 9 84223810 84223810 single base substitution C G intron_variant OV-AU 9 84230565 84230565 single base substitution C A downstream_gene_variant OV-AU 9 84230565 84230565 single base substitution C A intron_variant OV-AU 9 84230565 84230565 single base substitution C A upstream_gene_variant OV-AU 9 84235158 84235158 single base substitution C G downstream_gene_variant OV-AU 9 84235158 84235158 single base substitution C G intron_variant OV-AU 9 84237466 84237466 single base substitution C T intron_variant OV-AU 9 84237466 84237466 single base substitution C T upstream_gene_variant OV-AU 9 84237849 84237849 single base substitution C T intron_variant OV-AU 9 84237849 84237849 single base substitution C T upstream_gene_variant OV-AU 9 84238884 84238884 single base substitution G T intron_variant OV-AU 9 84238884 84238884 single base substitution G T upstream_gene_variant OV-AU 9 84239791 84239791 single base substitution C T intron_variant OV-AU 9 84239791 84239791 single base substitution C T upstream_gene_variant OV-AU 9 84250340 84250340 single base substitution C T intron_variant OV-AU 9 84250530 84250530 single base substitution C G intron_variant OV-AU 9 84250531 84250531 single base substitution C A intron_variant OV-AU 9 84254508 84254508 single base substitution T G intron_variant OV-AU 9 84257238 84257238 single base substitution G C intron_variant OV-AU 9 84257750 84257750 single base substitution G C intron_variant OV-AU 9 84257787 84257787 single base substitution T C intron_variant OV-AU 9 84275273 84275273 single base substitution A T intron_variant OV-AU 9 84277058 84277058 single base substitution A G intron_variant OV-AU 9 84281536 84281536 single base substitution A G intron_variant OV-AU 9 84283082 84283082 single base substitution C A intron_variant PACA-AU 9 84199271 84199271 single base substitution G A intron_variant PACA-AU 9 84204237 84204237 single base substitution G A intron_variant PACA-AU 9 84205170 84205170 single base substitution A G intron_variant PACA-AU 9 84208861 84208861 single base substitution C T intron_variant PACA-AU 9 84210459 84210459 single base substitution C T downstream_gene_variant PACA-AU 9 84210459 84210459 single base substitution C T intron_variant PACA-AU 9 84216104 84216104 single base substitution C T intron_variant PACA-AU 9 84218789 84218789 single base substitution C T intron_variant PACA-AU 9 84219575 84219575 single base substitution T C intron_variant PACA-AU 9 84220624 84220624 single base substitution G A intron_variant PACA-AU 9 84221395 84221395 single base substitution A T intron_variant PACA-AU 9 84226695 84226695 single base substitution G A downstream_gene_variant PACA-AU 9 84226695 84226695 single base substitution G A missense_variant R415C 1243C>T PACA-AU 9 84226695 84226695 single base substitution G A missense_variant R90C 268C>T PACA-AU 9 84231562 84231562 single base substitution T G downstream_gene_variant PACA-AU 9 84231562 84231562 single base substitution T G missense_variant E255A 764A>C PACA-AU 9 84231562 84231562 single base substitution T G splice_region_variant PACA-AU 9 84231562 84231562 single base substitution T G upstream_gene_variant PACA-AU 9 84232943 84232943 insertion of <=200bp - AAC downstream_gene_variant PACA-AU 9 84232943 84232943 insertion of <=200bp - AAC intron_variant PACA-AU 9 84232943 84232943 insertion of <=200bp - AAC upstream_gene_variant PACA-AU 9 84237753 84237753 single base substitution G C intron_variant PACA-AU 9 84237753 84237753 single base substitution G C upstream_gene_variant PACA-AU 9 84240309 84240309 single base substitution T G intron_variant PACA-AU 9 84240309 84240309 single base substitution T G upstream_gene_variant PACA-AU 9 84247166 84247166 single base substitution G C downstream_gene_variant PACA-AU 9 84247166 84247166 single base substitution G C intron_variant PACA-AU 9 84249649 84249649 single base substitution C T intron_variant PACA-AU 9 84251932 84251932 single base substitution G C intron_variant PACA-AU 9 84252418 84252418 single base substitution C A intron_variant PACA-AU 9 84266484 84266484 single base substitution T C intron_variant PACA-AU 9 84269764 84269764 single base substitution A G intron_variant PACA-AU 9 84271703 84271703 single base substitution T A intron_variant PACA-AU 9 84273068 84273068 single base substitution C T intron_variant PACA-AU 9 84273148 84273148 single base substitution A T intron_variant PACA-AU 9 84276681 84276681 single base substitution A C intron_variant PACA-AU 9 84281310 84281310 single base substitution C A intron_variant PACA-AU 9 84284604 84284604 deletion of <=200bp T - intron_variant PACA-AU 9 84294852 84294852 single base substitution A C intron_variant PACA-AU 9 84298265 84298265 single base substitution C T intron_variant PACA-AU 9 84299807 84299807 single base substitution G A intron_variant PACA-AU 9 84300506 84300506 single base substitution G C intron_variant PACA-AU 9 84301336 84301336 single base substitution T C intron_variant PACA-CA 9 84194092 84194092 single base substitution G A downstream_gene_variant PACA-CA 9 84200780 84200780 single base substitution T C intron_variant PACA-CA 9 84210772 84210772 single base substitution T G downstream_gene_variant PACA-CA 9 84210772 84210772 single base substitution T G intron_variant PACA-CA 9 84212195 84212195 insertion of <=200bp - A downstream_gene_variant PACA-CA 9 84212195 84212195 insertion of <=200bp - A intron_variant PACA-CA 9 84217937 84217937 single base substitution A G intron_variant PACA-CA 9 84217938 84217938 single base substitution G T intron_variant PACA-CA 9 84219787 84219787 single base substitution C T intron_variant PACA-CA 9 84228224 84228224 single base substitution T C intron_variant PACA-CA 9 84230126 84230126 insertion of <=200bp - CCAGCTA intron_variant PACA-CA 9 84230126 84230126 insertion of <=200bp - CCAGCTA upstream_gene_variant PACA-CA 9 84234424 84234424 single base substitution C T downstream_gene_variant PACA-CA 9 84234424 84234424 single base substitution C T intron_variant PACA-CA 9 84239598 84239598 insertion of <=200bp - T intron_variant PACA-CA 9 84239598 84239598 insertion of <=200bp - T upstream_gene_variant PACA-CA 9 84244367 84244367 insertion of <=200bp - T downstream_gene_variant PACA-CA 9 84244367 84244367 insertion of <=200bp - T intron_variant PACA-CA 9 84251197 84251197 single base substitution A G intron_variant PACA-CA 9 84251786 84251786 single base substitution C T intron_variant PACA-CA 9 84258034 84258034 single base substitution A C intron_variant PACA-CA 9 84261169 84261169 single base substitution G A intron_variant PACA-CA 9 84263053 84263053 single base substitution G A intron_variant PACA-CA 9 84263685 84263685 single base substitution T C intron_variant PACA-CA 9 84264008 84264008 single base substitution T C intron_variant PACA-CA 9 84268927 84268927 single base substitution T C 5_prime_UTR_premature_start_codon_gain_variant PACA-CA 9 84268927 84268927 single base substitution T C missense_variant T31A 91A>G PACA-CA 9 84268927 84268927 single base substitution T C missense_variant T87A 259A>G PACA-CA 9 84271909 84271909 single base substitution A G intron_variant PACA-CA 9 84276692 84276692 single base substitution A G intron_variant PACA-CA 9 84276967 84276967 single base substitution A T intron_variant PACA-CA 9 84280791 84280791 single base substitution A T intron_variant PACA-CA 9 84282633 84282633 deletion of <=200bp C - intron_variant PACA-CA 9 84284126 84284126 single base substitution T C intron_variant PACA-CA 9 84284604 84284604 deletion of <=200bp T - intron_variant PACA-CA 9 84286186 84286186 single base substitution T G intron_variant PACA-CA 9 84289360 84289360 single base substitution C T intron_variant PACA-CA 9 84291996 84291996 single base substitution T C intron_variant PACA-CA 9 84295980 84295980 single base substitution G A intron_variant PACA-CA 9 84296606 84296606 single base substitution C G intron_variant PACA-CA 9 84308563 84308563 deletion of <=200bp A - upstream_gene_variant PACA-CA 9 84308601 84308601 single base substitution T A upstream_gene_variant PAEN-AU 9 84226645 84226645 single base substitution G A downstream_gene_variant PAEN-AU 9 84226645 84226645 single base substitution G A intron_variant PAEN-AU 9 84232977 84232977 single base substitution T C downstream_gene_variant PAEN-AU 9 84232977 84232977 single base substitution T C intron_variant PAEN-AU 9 84232977 84232977 single base substitution T C upstream_gene_variant PAEN-AU 9 84291339 84291339 single base substitution G C intron_variant PAEN-IT 9 84239624 84239624 single base substitution G A intron_variant PAEN-IT 9 84239624 84239624 single base substitution G A upstream_gene_variant PAEN-IT 9 84241932 84241932 single base substitution G C intron_variant PAEN-IT 9 84276033 84276033 single base substitution G T intron_variant PAEN-IT 9 84302638 84302638 single base substitution G C intron_variant PAEN-IT 9 84302638 84302638 single base substitution G C upstream_gene_variant PAEN-IT 9 84305326 84305326 single base substitution G T upstream_gene_variant PBCA-DE 9 84198892 84198892 single base substitution G T 3_prime_UTR_variant PBCA-DE 9 84199063 84199063 single base substitution C T 3_prime_UTR_variant PBCA-DE 9 84223133 84223133 single base substitution G A downstream_gene_variant PBCA-DE 9 84223133 84223133 single base substitution G A intron_variant PBCA-DE 9 84230704 84230704 single base substitution G A downstream_gene_variant PBCA-DE 9 84230704 84230704 single base substitution G A intron_variant PBCA-DE 9 84230704 84230704 single base substitution G A upstream_gene_variant PBCA-DE 9 84232088 84232088 single base substitution T G downstream_gene_variant PBCA-DE 9 84232088 84232088 single base substitution T G intron_variant PBCA-DE 9 84232088 84232088 single base substitution T G upstream_gene_variant PBCA-DE 9 84241242 84241242 single base substitution A G intron_variant PBCA-DE 9 84250188 84250188 single base substitution C T intron_variant PBCA-DE 9 84292152 84292152 insertion of <=200bp - C intron_variant PBCA-DE 9 84293103 84293103 single base substitution G T intron_variant PBCA-DE 9 84294020 84294020 single base substitution G T intron_variant PBCA-DE 9 84295798 84295798 deletion of <=200bp A - intron_variant PBCA-DE 9 84296998 84296999 deletion of <=200bp TA - intron_variant PBCA-DE 9 84298325 84298325 single base substitution G A intron_variant PBCA-DE 9 84308542 84308542 single base substitution A T upstream_gene_variant PRAD-CA 9 84199918 84199918 single base substitution T C intron_variant PRAD-CA 9 84203726 84203726 single base substitution C T intron_variant PRAD-CA 9 84244980 84244980 single base substitution C T downstream_gene_variant PRAD-CA 9 84244980 84244980 single base substitution C T intron_variant PRAD-CA 9 84272842 84272842 single base substitution T C intron_variant PRAD-CA 9 84292276 84292276 single base substitution C T intron_variant PRAD-CA 9 84296357 84296357 single base substitution G C intron_variant PRAD-UK 9 84207438 84207438 single base substitution A T intron_variant PRAD-UK 9 84233739 84233739 single base substitution C T downstream_gene_variant PRAD-UK 9 84233739 84233739 single base substitution C T intron_variant PRAD-UK 9 84236870 84236870 single base substitution T C intron_variant PRAD-UK 9 84236870 84236870 single base substitution T C upstream_gene_variant PRAD-UK 9 84244122 84244122 deletion of <=200bp T - downstream_gene_variant PRAD-UK 9 84244122 84244122 deletion of <=200bp T - intron_variant PRAD-UK 9 84257333 84257333 single base substitution C T intron_variant PRAD-UK 9 84260399 84260399 single base substitution T C intron_variant PRAD-UK 9 84268009 84268009 single base substitution A C intron_variant PRAD-UK 9 84269925 84269925 single base substitution C T intron_variant PRAD-UK 9 84270454 84270454 single base substitution T A intron_variant PRAD-UK 9 84271245 84271245 single base substitution T C intron_variant PRAD-UK 9 84283604 84283604 single base substitution A T intron_variant PRAD-UK 9 84285643 84285643 insertion of <=200bp - TA intron_variant PRAD-UK 9 84297270 84297270 single base substitution G A intron_variant PRAD-UK 9 84302780 84302780 single base substitution G A intron_variant PRAD-UK 9 84302780 84302780 single base substitution G A upstream_gene_variant PRAD-US 9 84199168 84199168 single base substitution T C missense_variant Y753C 2258A>G RECA-EU 9 84198226 84198226 single base substitution C G downstream_gene_variant RECA-EU 9 84198747 84198747 single base substitution C A 3_prime_UTR_variant RECA-EU 9 84205227 84205227 single base substitution T A intron_variant RECA-EU 9 84206036 84206036 single base substitution G A intron_variant RECA-EU 9 84212686 84212686 single base substitution G T downstream_gene_variant RECA-EU 9 84212686 84212686 single base substitution G T intron_variant RECA-EU 9 84212687 84212687 single base substitution G A downstream_gene_variant RECA-EU 9 84212687 84212687 single base substitution G A intron_variant RECA-EU 9 84214435 84214435 single base substitution A G downstream_gene_variant RECA-EU 9 84214435 84214435 single base substitution A G intron_variant RECA-EU 9 84222213 84222213 single base substitution A G downstream_gene_variant RECA-EU 9 84222213 84222213 single base substitution A G intron_variant RECA-EU 9 84223668 84223668 single base substitution A G downstream_gene_variant RECA-EU 9 84223668 84223668 single base substitution A G intron_variant RECA-EU 9 84224124 84224124 single base substitution C T downstream_gene_variant RECA-EU 9 84224124 84224124 single base substitution C T intron_variant RECA-EU 9 84224375 84224375 single base substitution G T downstream_gene_variant RECA-EU 9 84224375 84224375 single base substitution G T intron_variant RECA-EU 9 84225593 84225593 single base substitution G A downstream_gene_variant RECA-EU 9 84225593 84225593 single base substitution G A intron_variant RECA-EU 9 84226911 84226911 single base substitution C G intron_variant RECA-EU 9 84243706 84243706 single base substitution T A downstream_gene_variant RECA-EU 9 84243706 84243706 single base substitution T A intron_variant RECA-EU 9 84252805 84252805 single base substitution G T intron_variant RECA-EU 9 84255945 84255945 single base substitution T A intron_variant RECA-EU 9 84257811 84257811 single base substitution C T intron_variant RECA-EU 9 84270780 84270780 single base substitution A G intron_variant RECA-EU 9 84273625 84273625 single base substitution C A intron_variant RECA-EU 9 84279412 84279412 single base substitution A G intron_variant RECA-EU 9 84290345 84290345 single base substitution A C intron_variant SKCA-BR 9 84196547 84196547 single base substitution C T downstream_gene_variant SKCA-BR 9 84198153 84198153 single base substitution A G downstream_gene_variant SKCA-BR 9 84198154 84198154 single base substitution A G downstream_gene_variant SKCA-BR 9 84198174 84198174 single base substitution C A downstream_gene_variant SKCA-BR 9 84200932 84200932 insertion of <=200bp - CT intron_variant SKCA-BR 9 84200932 84200934 deletion of <=200bp CTT - intron_variant SKCA-BR 9 84200996 84200996 single base substitution T G intron_variant SKCA-BR 9 84202825 84202825 insertion of <=200bp - GTGTGTGTGTGTGTGTGTCATCCCGCC intron_variant SKCA-BR 9 84202831 84202831 insertion of <=200bp - GTGTGTGTGTGTCATCCCGCC intron_variant SKCA-BR 9 84202837 84202837 insertion of <=200bp - GTGTGTCATCCCGCC intron_variant SKCA-BR 9 84202884 84202884 single base substitution T C intron_variant SKCA-BR 9 84206600 84206600 single base substitution G A intron_variant SKCA-BR 9 84206738 84206738 single base substitution T A intron_variant SKCA-BR 9 84210729 84210730 deletion of <=200bp CA - downstream_gene_variant SKCA-BR 9 84210729 84210730 deletion of <=200bp CA - intron_variant SKCA-BR 9 84217465 84217465 single base substitution C T intron_variant SKCA-BR 9 84219229 84219229 single base substitution G A intron_variant SKCA-BR 9 84221563 84221563 single base substitution G A intron_variant SKCA-BR 9 84225430 84225430 single base substitution G A downstream_gene_variant SKCA-BR 9 84225430 84225430 single base substitution G A intron_variant SKCA-BR 9 84225431 84225431 single base substitution T A downstream_gene_variant SKCA-BR 9 84225431 84225431 single base substitution T A intron_variant SKCA-BR 9 84228818 84228821 deletion of <=200bp TTTC - intron_variant SKCA-BR 9 84228818 84228821 deletion of <=200bp TTTC - upstream_gene_variant SKCA-BR 9 84230431 84230431 single base substitution T A downstream_gene_variant SKCA-BR 9 84230431 84230431 single base substitution T A intron_variant SKCA-BR 9 84230431 84230431 single base substitution T A upstream_gene_variant SKCA-BR 9 84232048 84232051 deletion of <=200bp CAAA - downstream_gene_variant SKCA-BR 9 84232048 84232051 deletion of <=200bp CAAA - intron_variant SKCA-BR 9 84232048 84232051 deletion of <=200bp CAAA - upstream_gene_variant SKCA-BR 9 84232067 84232067 single base substitution G A downstream_gene_variant SKCA-BR 9 84232067 84232067 single base substitution G A intron_variant SKCA-BR 9 84232067 84232067 single base substitution G A upstream_gene_variant SKCA-BR 9 84238530 84238531 deletion of <=200bp CT - intron_variant SKCA-BR 9 84238530 84238531 deletion of <=200bp CT - upstream_gene_variant SKCA-BR 9 84238532 84238532 single base substitution T A intron_variant SKCA-BR 9 84238532 84238532 single base substitution T A upstream_gene_variant SKCA-BR 9 84240344 84240344 single base substitution G A intron_variant SKCA-BR 9 84240344 84240344 single base substitution G A upstream_gene_variant SKCA-BR 9 84240826 84240828 deletion of <=200bp TAA - intron_variant SKCA-BR 9 84248073 84248073 single base substitution G A downstream_gene_variant SKCA-BR 9 84248073 84248073 single base substitution G A intron_variant SKCA-BR 9 84252847 84252847 single base substitution G A intron_variant SKCA-BR 9 84253832 84253832 single base substitution A C intron_variant SKCA-BR 9 84255311 84255312 deletion of <=200bp TA - intron_variant SKCA-BR 9 84257291 84257291 single base substitution G A intron_variant SKCA-BR 9 84260659 84260669 deletion of <=200bp AAAAATAAAAT - intron_variant SKCA-BR 9 84262437 84262437 single base substitution A T intron_variant SKCA-BR 9 84262469 84262469 single base substitution T G intron_variant SKCA-BR 9 84262564 84262564 single base substitution G A intron_variant SKCA-BR 9 84262973 84262973 single base substitution G A intron_variant SKCA-BR 9 84267021 84267021 insertion of <=200bp - TACACACACACACAC intron_variant SKCA-BR 9 84267021 84267021 insertion of <=200bp - TACACAC intron_variant SKCA-BR 9 84270161 84270161 single base substitution A C intron_variant SKCA-BR 9 84270767 84270768 deletion of <=200bp CA - intron_variant SKCA-BR 9 84273060 84273060 single base substitution C A intron_variant SKCA-BR 9 84275095 84275095 single base substitution C T intron_variant SKCA-BR 9 84275892 84275893 deletion of <=200bp AC - intron_variant SKCA-BR 9 84276117 84276119 deletion of <=200bp ATT - intron_variant SKCA-BR 9 84276673 84276673 single base substitution C T intron_variant SKCA-BR 9 84277866 84277866 single base substitution G A intron_variant SKCA-BR 9 84278537 84278537 insertion of <=200bp - CT intron_variant SKCA-BR 9 84281204 84281204 single base substitution G A intron_variant SKCA-BR 9 84285629 84285629 insertion of <=200bp - GA intron_variant SKCA-BR 9 84285640 84285640 insertion of <=200bp - AAT intron_variant SKCA-BR 9 84290245 84290249 deletion of <=200bp GTAAA - intron_variant SKCA-BR 9 84293228 84293228 single base substitution G A intron_variant SKCA-BR 9 84293847 84293847 single base substitution G A intron_variant SKCA-BR 9 84295246 84295246 single base substitution G A intron_variant SKCA-BR 9 84296479 84296479 single base substitution G A intron_variant SKCA-BR 9 84298137 84298137 insertion of <=200bp - ATTT intron_variant SKCA-BR 9 84298805 84298805 single base substitution A C intron_variant SKCA-BR 9 84299307 84299307 single base substitution A T intron_variant SKCA-BR 9 84302489 84302489 single base substitution G A intron_variant SKCA-BR 9 84302489 84302489 single base substitution G A upstream_gene_variant SKCA-BR 9 84302502 84302502 single base substitution G A intron_variant SKCA-BR 9 84302502 84302502 single base substitution G A upstream_gene_variant SKCA-BR 9 84302916 84302916 single base substitution A C intron_variant SKCA-BR 9 84302916 84302916 single base substitution A C upstream_gene_variant SKCA-BR 9 84304552 84304552 single base substitution A G upstream_gene_variant SKCA-BR 9 84305358 84305358 single base substitution T C upstream_gene_variant SKCA-BR 9 84307670 84307670 single base substitution C T upstream_gene_variant SKCM-US 9 84208114 84208114 single base substitution G A synonymous_variant P469P 1407C>T SKCM-US 9 84225190 84225190 single base substitution G A downstream_gene_variant SKCM-US 9 84225190 84225190 single base substitution G A missense_variant H101Y 301C>T SKCM-US 9 84225190 84225190 single base substitution G A missense_variant H426Y 1276C>T SKCM-US 9 84226688 84226688 single base substitution G A downstream_gene_variant SKCM-US 9 84226688 84226688 single base substitution G A missense_variant P417L 1250C>T SKCM-US 9 84226688 84226688 single base substitution G A missense_variant P92L 275C>T SKCM-US 9 84230986 84230986 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant SKCM-US 9 84230986 84230986 single base substitution G A downstream_gene_variant SKCM-US 9 84230986 84230986 single base substitution G A exon_variant SKCM-US 9 84230986 84230986 single base substitution G A missense_variant R277C 829C>T SKCM-US 9 84230986 84230986 single base substitution G A upstream_gene_variant SKCM-US 9 84231585 84231585 single base substitution G A 5_prime_UTR_variant SKCM-US 9 84231585 84231585 single base substitution G A downstream_gene_variant SKCM-US 9 84231585 84231585 single base substitution G A exon_variant SKCM-US 9 84231585 84231585 single base substitution G A synonymous_variant N247N 741C>T SKCM-US 9 84231585 84231585 single base substitution G A upstream_gene_variant SKCM-US 9 84235405 84235405 single base substitution G A 5_prime_UTR_variant SKCM-US 9 84235405 84235405 single base substitution G A exon_variant SKCM-US 9 84235405 84235405 single base substitution G A missense_variant S221F 662C>T SKCM-US 9 84235405 84235405 single base substitution G A missense_variant S231F 692C>T SKCM-US 9 84249096 84249096 single base substitution G A 5_prime_UTR_variant SKCM-US 9 84249096 84249096 single base substitution G A missense_variant L109F 325C>T SKCM-US 9 84249096 84249096 single base substitution G A missense_variant L165F 493C>T SKCM-US 9 84249096 84249096 single base substitution G A missense_variant L175F 523C>T SKCM-US 9 84268944 84268944 single base substitution A T 5_prime_UTR_variant SKCM-US 9 84268944 84268944 single base substitution A T missense_variant I25N 74T>A SKCM-US 9 84268944 84268944 single base substitution A T missense_variant I81N 242T>A SKCM-US 9 84302253 84302253 single base substitution G A 5_prime_UTR_variant SKCM-US 9 84302253 84302253 single base substitution G A missense_variant H41Y 121C>T STAD-US 9 84199195 84199195 single base substitution C T missense_variant S744N 2231G>A STAD-US 9 84205815 84205815 single base substitution G A synonymous_variant Y578Y 1734C>T STAD-US 9 84208020 84208020 single base substitution T C missense_variant T501A 1501A>G STAD-US 9 84208132 84208132 deletion of <=200bp G - frameshift_variant P463 STAD-US 9 84225140 84225140 single base substitution C T downstream_gene_variant STAD-US 9 84225140 84225140 single base substitution C T synonymous_variant G117G 351G>A STAD-US 9 84225140 84225140 single base substitution C T synonymous_variant G442G 1326G>A STAD-US 9 84225192 84225192 deletion of <=200bp G - downstream_gene_variant STAD-US 9 84225192 84225192 deletion of <=200bp G - frameshift_variant P100 STAD-US 9 84225192 84225192 deletion of <=200bp G - frameshift_variant P425 STAD-US 9 84226773 84226773 single base substitution C T exon_variant STAD-US 9 84226773 84226773 single base substitution C T missense_variant A389T 1165G>A STAD-US 9 84226773 84226773 single base substitution C T missense_variant A64T 190G>A STAD-US 9 84226807 84226807 single base substitution G A exon_variant STAD-US 9 84226807 84226807 single base substitution G A synonymous_variant H377H 1131C>T STAD-US 9 84226807 84226807 single base substitution G A synonymous_variant H52H 156C>T STAD-US 9 84230907 84230907 single base substitution T C 5_prime_UTR_variant STAD-US 9 84230907 84230907 single base substitution T C downstream_gene_variant STAD-US 9 84230907 84230907 single base substitution T C exon_variant STAD-US 9 84230907 84230907 single base substitution T C intron_variant STAD-US 9 84230907 84230907 single base substitution T C missense_variant E303G 908A>G STAD-US 9 84230907 84230907 single base substitution T C upstream_gene_variant STAD-US 9 84248267 84248267 single base substitution C T 5_prime_UTR_variant STAD-US 9 84248267 84248267 single base substitution C T downstream_gene_variant STAD-US 9 84248267 84248267 single base substitution C T missense_variant G197D 590G>A STAD-US 9 84248267 84248267 single base substitution C T missense_variant G207D 620G>A UCEC-US 9 84199127 84199127 single base substitution C A stop_gained E767* 2299G>T UCEC-US 9 84199392 84199392 single base substitution G A missense_variant R726W 2176C>T UCEC-US 9 84199402 84199404 deletion of <=200bp GAG - inframe_deletion L722 UCEC-US 9 84200568 84200568 single base substitution G T splice_region_variant UCEC-US 9 84202635 84202635 single base substitution G A synonymous_variant R646R 1938C>T UCEC-US 9 84202636 84202656 deletion of <=200bp CGCAGGTCCCAGGACCTGACT - disruptive_inframe_deletion TVRSWDLR639T UCEC-US 9 84202674 84202674 single base substitution C A synonymous_variant T633T 1899G>T UCEC-US 9 84202721 84202721 single base substitution C T missense_variant G618R 1852G>A UCEC-US 9 84205842 84205842 single base substitution C A missense_variant E569D 1707G>T UCEC-US 9 84205949 84205949 single base substitution G A missense_variant R534C 1600C>T UCEC-US 9 84226713 84226713 single base substitution C T downstream_gene_variant UCEC-US 9 84226713 84226713 single base substitution C T missense_variant A409T 1225G>A UCEC-US 9 84226713 84226713 single base substitution C T missense_variant A84T 250G>A UCEC-US 9 84230908 84230908 single base substitution C A 5_prime_UTR_variant UCEC-US 9 84230908 84230908 single base substitution C A downstream_gene_variant UCEC-US 9 84230908 84230908 single base substitution C A exon_variant UCEC-US 9 84230908 84230908 single base substitution C A intron_variant UCEC-US 9 84230908 84230908 single base substitution C A stop_gained E303* 907G>T UCEC-US 9 84230908 84230908 single base substitution C A upstream_gene_variant UCEC-US 9 84230986 84230986 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 9 84230986 84230986 single base substitution G A downstream_gene_variant UCEC-US 9 84230986 84230986 single base substitution G A exon_variant UCEC-US 9 84230986 84230986 single base substitution G A missense_variant R277C 829C>T UCEC-US 9 84230986 84230986 single base substitution G A upstream_gene_variant UCEC-US 9 84235443 84235443 insertion of <=200bp - AA 5_prime_UTR_variant UCEC-US 9 84235443 84235443 insertion of <=200bp - AA exon_variant UCEC-US 9 84235443 84235443 insertion of <=200bp - AA frameshift_variant L208L? UCEC-US 9 84235443 84235443 insertion of <=200bp - AA frameshift_variant L218L? UCEC-US 9 84248275 84248278 deletion of <=200bp TCTG - downstream_gene_variant UCEC-US 9 84248275 84248278 deletion of <=200bp TCTG - frameshift_variant DR193 UCEC-US 9 84248275 84248278 deletion of <=200bp TCTG - frameshift_variant DR203 UCEC-US 9 84248275 84248278 deletion of <=200bp TCTG - splice_region_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand STC252 COSM3219102 c.1095C>T p.P365P Substitution - coding silent 9:81611928-81611928 - TCGA-D9-A6EC-06 COSM4401834 c.1250C>T p.P417L Substitution - Missense 9:81611773-81611773 - TCGA-B5-A11E-01 COSM1110444 c.829C>T p.R277C Substitution - Missense 9:81616071-81616071 - 2218467 COSM4421358 c.1359C>G p.D453E Substitution - Missense 9:81593247-81593247 - DLD1 COSM3219078 c.1741G>A p.A581T Substitution - Missense 9:81590893-81590893 - TCGA-D1-A103-01 COSM1110442 c.1225G>A p.A409T Substitution - Missense 9:81611798-81611798 - TCGA-GV-A3QI-01 COSM1314949 c.871G>A p.A291T Substitution - Missense 9:81616029-81616029 - TCGA-AA-A010-01 COSM285740 c.1593T>C p.N531N Substitution - coding silent 9:81591041-81591041 - TCGA-OL-A5RZ-01 COSM754108 c.1852G>C p.G618R Substitution - Missense 9:81587806-81587806 - TCGA-B5-A11O-01 COSM1110439 c.1852G>A p.G618R Substitution - Missense 9:81587806-81587806 - TCGA-BR-6452-01 COSM3908335 c.590G>A p.G197D Substitution - Missense 9:81633352-81633352 - TCGA-AA-3815-01 COSM1463188 c.234+2T>C p.? Unknown 9:81685674-81685674 - 1517_CLM COSM5757402 c.1286T>A p.V429E Substitution - Missense 9:81610265-81610265 - P04-2740 COSM247839 c.1017A>G p.P339P Substitution - coding silent 9:81613423-81613423 - pfg088T COSM4758282 c.2170G>C p.A724P Substitution - Missense 9:81584483-81584483 - TCGA-CJ-5677-01 COSM487589 c.1726G>A p.A576T Substitution - Missense 9:81590908-81590908 - T95 COSM4733893 c.2085C>T p.H695H Substitution - coding silent 9:81585548-81585548 - TCGA-19-2631 COSM2156435 c.2004C>T p.T668T Substitution - coding silent 9:81585629-81585629 - GHE0536 COSM5713910 c.1391A>G p.D464G Substitution - Missense 9:81593215-81593215 - 2492702 COSM5715900 c.1312G>T p.G438* Substitution - Nonsense 9:81610239-81610239 - ESO-175 COSM1267874 c.1829+4A>G p.? Unknown 9:81590801-81590801 - C086 COSM3219106 c.1012C>T p.R338C Substitution - Missense 9:81613428-81613428 - CSCC-35-T COSM4523204 c.1203G>A p.M401I Substitution - Missense 9:81611820-81611820 - ESO-717 COSM1242925 c.1713G>A p.T571T Substitution - coding silent 9:81590921-81590921 - CSCC-44-T COSM4459118 c.1112C>T p.P371L Substitution - Missense 9:81611911-81611911 - ATL065 COSM5711351 c.1408G>A p.G470R Substitution - Missense 9:81593198-81593198 - C547 COSM4442578 c.997G>A p.A333T Substitution - Missense 9:81613443-81613443 - TCGA-BC-A5W4-01 COSM4911492 c.1430A>G p.Q477R Substitution - Missense 9:81593176-81593176 - HCT8 COSM3219078 c.1741G>A p.A581T Substitution - Missense 9:81590893-81590893 - HN_62686 COSM122050 c.957A>T p.T319T Substitution - coding silent 9:81613483-81613483 - HCC163T COSM3664435 c.1390G>A p.D464N Substitution - Missense 9:81593216-81593216 - TCGA-D1-A17Q-01 COSM1110443 c.907G>T p.E303* Substitution - Nonsense 9:81615993-81615993 - T2197 COSM1229336 c.1693C>T p.R565C Substitution - Missense 9:81590941-81590941 - PT48 COSM5932505 c.1985C>T p.S662F Substitution - Missense 9:81585648-81585648 - RK197_C01 COSM3746065 c.1527C>G p.V509V Substitution - coding silent 9:81593079-81593079 - 2293782 COSM4609467 c.225G>T p.M75I Substitution - Missense 9:81685685-81685685 - 2492703 COSM5715900 c.1312G>T p.G438* Substitution - Nonsense 9:81610239-81610239 - CSCC-32-T COSM4465487 c.1386C>T p.P462P Substitution - coding silent 9:81593220-81593220 - TCGA-FV-A495-01 COSM4914450 c.1429C>T p.Q477* Substitution - Nonsense 9:81593177-81593177 - LUAD-B00416 COSM331659 c.1534A>T p.I512F Substitution - Missense 9:81593072-81593072 - 060T COSM1730088 c.1561G>T p.V521F Substitution - Missense 9:81593045-81593045 - TCGA-B5-A0JY-01 COSM1110440 c.1707G>T p.E569D Substitution - Missense 9:81590927-81590927 - 8066852 COSM3780783 c.1243C>T p.R415C Substitution - Missense 9:81611780-81611780 - 3N45-VS-3T45 COSM4982432 c.1752C>T p.P584P Substitution - coding silent 9:81590882-81590882 - HX22T COSM3664436 c.1239C>T p.Y413Y Substitution - coding silent 9:81611784-81611784 - I2L-P24Ta-Tumor-Organoid COSM5359431 c.1101A>G p.P367P Substitution - coding silent 9:81611922-81611922 - TCGA-AX-A060-01 COSM1110446 c.579_582delCAGA p.D193fs*15 Deletion - Frameshift 9:81633360-81633363 - TCGA-EE-A3AB-06 COSM3658819 c.242T>A p.I81N Substitution - Missense 9:81654029-81654029 - TCGA-FD-A3B6-01 COSM1314950 c.859C>G p.P287A Substitution - Missense 9:81616041-81616041 - HCT15 COSM3219078 c.1741G>A p.A581T Substitution - Missense 9:81590893-81590893 - 587294 COSM1229335 c.357G>C p.L119F Substitution - Missense 9:81652229-81652229 - Au7 COSM5606274 c.701C>T p.S234F Substitution - Missense 9:81620451-81620451 - TCGA-AA-3697-01 COSM1463183 c.1465G>A p.A489T Substitution - Missense 9:81593141-81593141 - TCGA-B5-A0JY-01 COSM1110443 c.907G>T p.E303* Substitution - Nonsense 9:81615993-81615993 - TCGA-G4-6588-01 COSM1463186 c.1165G>A p.A389T Substitution - Missense 9:81611858-81611858 - HCC67 COSM1625158 c.1854A>T p.G618G Substitution - coding silent 9:81587804-81587804 - 8015109 COSM218993 c.764A>C p.E255A Substitution - Missense 9:81616647-81616647 - TCGA-A8-A0A6-01 COSM3848900 c.686T>G p.V229G Substitution - Missense 9:81620466-81620466 - TCGA-AZ-4315-01 COSM1463182 c.1660T>G p.L554V Substitution - Missense 9:81590974-81590974 - TCGA-AP-A05N-01 COSM1110441 c.1600C>T p.R534C Substitution - Missense 9:81591034-81591034 - TCGA-CM-5861-01 COSM1463185 c.1324G>A p.G442R Substitution - Missense 9:81610227-81610227 - 202_T COSM4139595 c.1848A>G p.T616T Substitution - coding silent 9:81587810-81587810 - TCGA-D3-A1Q7-06 COSM3658813 c.741C>T p.N247N Substitution - coding silent 9:81616670-81616670 - TCGA-A5-A0GB-01 COSM1110436 c.1917_1937del21 p.V640_R646delVRSWDLR Deletion - In frame 9:81587721-81587741 - SH-3000 COSM5018571 c.2055C>T p.H685H Substitution - coding silent 9:81585578-81585578 - TCGA-EB-A44P-01 COSM3658814 c.662C>T p.S221F Substitution - Missense 9:81620490-81620490 - CSCC-45-T COSM4448629 c.1119delG p.M374fs*7 Deletion - Frameshift 9:81611904-81611904 - PR-02-2480 COSM247838 c.1896G>C p.W632C Substitution - Missense 9:81587762-81587762 - B59-3-Tumor COSM1756237 c.2212G>C p.E738Q Substitution - Missense 9:81584299-81584299 - C135 COSM754108 c.1852G>C p.G618R Substitution - Missense 9:81587806-81587806 - B59-3 COSM1756237 c.2212G>C p.E738Q Substitution - Missense 9:81584299-81584299 - TCGA-AA-3710-01 COSM3219093 c.1389delC p.D464fs*27 Deletion - Frameshift 9:81593217-81593217 - TCGA-AA-3710-01 COSM5105704 c.983C>T p.T328M Substitution - Missense 9:81613457-81613457 - TCGA-CJ-4900-01 COSM1497127 c.304C>G p.Q102E Substitution - Missense 9:81652282-81652282 - PT48 COSM3658814 c.662C>T p.S221F Substitution - Missense 9:81620490-81620490 - SC_9107 COSM5552395 c.1851C>G p.D617E Substitution - Missense 9:81587807-81587807 - YUSEL COSM1701260 c.427C>T p.L143F Substitution - Missense 9:81634247-81634247 - CSCC-31-T COSM3219106 c.1012C>T p.R338C Substitution - Missense 9:81613428-81613428 - STC291 COSM3908331 c.1501A>G p.T501A Substitution - Missense 9:81593105-81593105 - 2492700 COSM5715900 c.1312G>T p.G438* Substitution - Nonsense 9:81610239-81610239 - TCGA-E9-A1NE-01 COSM1490147 c.1846A>G p.T616A Substitution - Missense 9:81587812-81587812 - TCGA-BR-8487-01 COSM3908331 c.1501A>G p.T501A Substitution - Missense 9:81593105-81593105 - T3255 COSM609174 c.1852G>T p.G618* Substitution - Nonsense 9:81587806-81587806 - TCGA-AP-A0LM-01 COSM1110434 c.1980C>A p.I660I Substitution - coding silent 9:81585653-81585653 - TCGA-BR-8589-01 COSM3908334 c.908A>G p.E303G Substitution - Missense 9:81615992-81615992 - COLO320-DM COSM3219123 c.109C>A p.Q37K Substitution - Missense 9:81687350-81687350 - LP6005334-DNA_E01 COSM4412635 c.203C>T p.S68L Substitution - Missense 9:81685707-81685707 - TCGA-19-2631-01 COSM2156435 c.2004C>T p.T668T Substitution - coding silent 9:81585629-81585629 - CSCC-45-T COSM4448625 c.1112_1113delCT p.P371fs*51 Deletion - Frameshift 9:81611910-81611911 - TCGA-B5-A11E-01 COSM1110432 c.2176C>T p.R726W Substitution - Missense 9:81584477-81584477 - TCGA-BS-A0V6-01 COSM1110438 c.1898C>T p.T633M Substitution - Missense 9:81587760-81587760 - LC_C26 COSM1187744 c.665A>G p.N222S Substitution - Missense 9:81620487-81620487 - 202_T COSM4139596 c.294G>A p.Q98Q Substitution - coding silent 9:81653977-81653977 - TCGA-AO-A1KT-01 COSM1490148 c.1830G>T p.R610S Substitution - Missense 9:81587828-81587828 - TCGA-D1-A0ZV-01 COSM1110445 c.623_624insTT p.R209fs*1 Insertion - Frameshift 9:81620528-81620529 - PCSI_0083_Pa_X COSM5420408 c.259A>G p.T87A Substitution - Missense 9:81654012-81654012 - 19M COSM5579727 c.7C>T p.P3S Substitution - Missense 9:81688234-81688234 - TCGA-HC-A6AO-01 COSM4392322 c.2258A>G p.Y753C Substitution - Missense 9:81584253-81584253 - TCGA-BR-4362-01 COSM3908332 c.1326G>A p.G442G Substitution - coding silent 9:81610225-81610225 - TCGA-A5-A0R8-01 COSM1110435 c.1938C>T p.R646R Substitution - coding silent 9:81587720-81587720 - TCGA-A6-6781-01 COSM1463187 c.468G>A p.P156P Substitution - coding silent 9:81634206-81634206 - EGC15 COSM5064102 c.1136G>A p.G379D Substitution - Missense 9:81611887-81611887 - ESCC_11 COSM5428732 c.700T>C p.S234P Substitution - Missense 9:81620452-81620452 - SC_9046 COSM5557474 c.2240T>A p.I747N Substitution - Missense 9:81584271-81584271 - TCGA-DM-A28F-01 COSM5170749 c.629G>A p.G210D Substitution - Missense 9:81620523-81620523 - CHOL24 COSM1744958 c.2230_2234delAGCTG p.S744fs*1 Deletion - Frameshift 9:81584277-81584281 - BCM265T COSM4955177 c.1174G>A p.A392T Substitution - Missense 9:81611849-81611849 - HCC113T COSM5808367 c.1721C>T p.A574V Substitution - Missense 9:81590913-81590913 - TCGA-CM-5344-01 COSM1463180 c.1690C>T p.P564S Substitution - Missense 9:81590944-81590944 - LUAD_E00945 COSM389952 c.1796C>A p.A599D Substitution - Missense 9:81590838-81590838 - TCGA-WS-AB45-01 COSM5191993 c.1173C>T p.Y391Y Substitution - coding silent 9:81611850-81611850 - 1115157 COSM5551258 c.1576T>C p.C526R Substitution - Missense 9:81593030-81593030 - TCGA-BC-A5W4-01 COSM4911543 c.1426C>A p.R476S Substitution - Missense 9:81593180-81593180 - TCGA-D1-A0ZO-01 COSM1110437 c.1899G>T p.T633T Substitution - coding silent 9:81587759-81587759 - YUKLAB COSM1685646 c.1129delC p.H377fs*4 Deletion - Frameshift 9:81611894-81611894 - TCGA-K4-A3WV-01 COSM3780098 c.201G>T p.M67I Substitution - Missense 9:81685709-81685709 - TCGA-ER-A19G-06 COSM3658812 c.1276C>T p.H426Y Substitution - Missense 9:81610275-81610275 - TCGA-DK-A1AC-01 COSM1314948 c.1874C>G p.S625C Substitution - Missense 9:81587784-81587784 - TCGA-CD-A4MI-01 COSM3908330 c.1734C>T p.Y578Y Substitution - coding silent 9:81590900-81590900 - 587228 COSM1229336 c.1693C>T p.R565C Substitution - Missense 9:81590941-81590941 - TCGA-AA-3710-01 COSM5105703 c.2205+1G>T p.? Unknown 9:81584447-81584447 - TCGA-AB-2832-03 COSM1319576 c.63T>C p.T21T Substitution - coding silent 9:81687396-81687396 - TCGA-EB-A41A-01 COSM3658822 c.121C>T p.H41Y Substitution - Missense 9:81687338-81687338 - CSCC-55-T COSM4502076 c.603C>T p.S201S Substitution - coding silent 9:81620549-81620549 - ESO-539 COSM1267875 c.657A>G p.E219E Substitution - coding silent 9:81620495-81620495 - 076T COSM1730712 c.1595A>C p.Y532S Substitution - Missense 9:81591039-81591039 - ESCC_146 COSM5644739 c.635A>C p.D212A Substitution - Missense 9:81620517-81620517 - NB1767 COSM5703327 c.1021C>A p.L341I Substitution - Missense 9:81613419-81613419 - S00472 COSM5658039 c.1254G>T p.M418I Substitution - Missense 9:81611769-81611769 - ID43 COSM1166601 c.2183_2184insT p.Y729fs*16 Insertion - Frameshift 9:81584469-81584470 - pfg143T COSM4375307 c.2219C>T p.S740L Substitution - Missense 9:81584292-81584292 - pfg122T COSM4758284 c.1159C>A p.P387T Substitution - Missense 9:81611864-81611864 - CLL144 COSM1292874 c.1117G>T p.G373W Substitution - Missense 9:81611906-81611906 - SC_9022 COSM5557468 c.218T>G p.I73S Substitution - Missense 9:81685692-81685692 - CN-AML-19-T COSM5428732 c.700T>C p.S234P Substitution - Missense 9:81620452-81620452 - TCGA-85-6560-01 COSM754107 c.712G>T p.D238Y Substitution - Missense 9:81616699-81616699 - I2L-P24Tb-Tumor-Biopsy COSM5359431 c.1101A>G p.P367P Substitution - coding silent 9:81611922-81611922 - NB2272T COSM1236656 c.1464C>G p.C488W Substitution - Missense 9:81593142-81593142 - TCGA-HF-7132-01 COSM3908333 c.1131C>T p.H377H Substitution - coding silent 9:81611892-81611892 - TCGA-EE-A2MD-06 COSM1110444 c.829C>T p.R277C Substitution - Missense 9:81616071-81616071 - ESO-081 COSM1243680 c.1427G>A p.R476H Substitution - Missense 9:81593179-81593179 - TCGA-G3-A3CK-01 COSM4922376 c.130A>G p.K44E Substitution - Missense 9:81685892-81685892 - TLE44 COSM4168243 c.1062G>A p.A354A Substitution - coding silent 9:81613378-81613378 - TCGA-BG-A0MC-01 COSM1110433 c.2164_2166delCTC p.L722delL Deletion - In frame 9:81584487-81584489 - PD11383a COSM5786407 c.130A>T p.K44* Substitution - Nonsense 9:81685892-81685892 - ICGC_0021 COSM218993 c.764A>C p.E255A Substitution - Missense 9:81616647-81616647 - C058 COSM1110441 c.1600C>T p.R534C Substitution - Missense 9:81591034-81591034 - STC246 COSM3219092 c.1401C>T p.I467I Substitution - coding silent 9:81593205-81593205 - cSCCP5 COSM137965 c.2182C>T p.P728S Substitution - Missense 9:81584471-81584471 - TCGA-BR-6452-01 COSM3908329 c.2231G>A p.S744N Substitution - Missense 9:81584280-81584280 - 13542 COSM754108 c.1852G>C p.G618R Substitution - Missense 9:81587806-81587806 - PD4203a COSM164933 c.581G>C p.R194T Substitution - Missense 9:81633361-81633361 - TCGA-24-1564-01 COSM72989 c.2057T>A p.V686E Substitution - Missense 9:81585576-81585576 - YUKAT COSM5411348 c.68C>T p.P23L Substitution - Missense 9:81687391-81687391 - PD11326a COSM5789743 c.971G>C p.S324T Substitution - Missense 9:81613469-81613469 - 93T COSM110279 c.2188G>A p.G730R Substitution - Missense 9:81584465-81584465 - BD124T COSM3219064 c.2220G>A p.S740S Substitution - coding silent 9:81584291-81584291 - LUAD-NYU201 COSM371503 c.2110C>T p.L704L Substitution - coding silent 9:81585523-81585523 - MO_1012 COSM5569743 c.936G>A p.T312T Substitution - coding silent 9:81613504-81613504 - ESO-555 COSM1267876 c.1558C>G p.P520A Substitution - Missense 9:81593048-81593048 - 61 COSM5738632 c.274G>T p.V92F Substitution - Missense 9:81653997-81653997 - TCGA-AA-A02R-01 COSM5127652 c.1748G>A p.S583N Substitution - Missense 9:81590886-81590886 - I2L-P24Ta-Tumor-Biopsy COSM5359431 c.1101A>G p.P367P Substitution - coding silent 9:81611922-81611922 - TCGA-AA-3852-01 COSM271895 c.1679C>T p.A560V Substitution - Missense 9:81590955-81590955 - I2L-P7-Tumor-Organoid COSM5359534 c.1206C>A p.S402R Substitution - Missense 9:81611817-81611817 - ATL090 COSM5711352 c.1378C>A p.P460T Substitution - Missense 9:81593228-81593228 - CSCC-56-T COSM4476940 c.2108C>T p.S703F Substitution - Missense 9:81585525-81585525 - 98735 COSM326675 c.1427G>T p.R476L Substitution - Missense 9:81593179-81593179 - PD18771a COSM5780621 c.1693C>G p.R565G Substitution - Missense 9:81590941-81590941 - TCGA-EB-A3Y6-01 COSM3658816 c.493C>T p.L165F Substitution - Missense 9:81634181-81634181 - HCC163 COSM3664435 c.1390G>A p.D464N Substitution - Missense 9:81593216-81593216 - HCC67T COSM1625158 c.1854A>T p.G618G Substitution - coding silent 9:81587804-81587804 - T1154 COSM4733894 c.1274delC p.P425fs*3 Deletion - Frameshift 9:81610277-81610277 - CN-AML-NR-19-Dx COSM5428732 c.700T>C p.S234P Substitution - Missense 9:81620452-81620452 - ESCC_118 COSM5640383 c.370G>A p.G124R Substitution - Missense 9:81652216-81652216 - PD7188a COSM3769740 c.467C>T p.P156L Substitution - Missense 9:81634207-81634207 - SNU-175 COSM3219122 c.119A>G p.Y40C Substitution - Missense 9:81687340-81687340 - C80 COSM4619930 c.1215C>A p.A405A Substitution - coding silent 9:81611808-81611808 - pfg116T COSM4758292 c.144G>C p.E48D Substitution - Missense 9:81685878-81685878 - tumor_4110378 COSM5946463 c.712-6_712-5insT p.? Unknown 9:81616704-81616705 - TCGA-BR-7707-01 COSM1463186 c.1165G>A p.A389T Substitution - Missense 9:81611858-81611858 - TCGA-22-4613-01 COSM754109 c.2260A>G p.I754V Substitution - Missense 9:81584251-81584251 - TCGA-GC-A3I6-01 COSM1314951 c.622C>T p.L208L Substitution - coding silent 9:81620530-81620530 - RK197_C01 COSM1555261 c.1402G>T p.G468* Substitution - Nonsense 9:81593204-81593204 - BCM265T COSM4955177 c.1174G>A p.A392T Substitution - Missense 9:81611849-81611849 - TCGA-BP-5191-01 COSM487588 c.2119G>A p.A707T Substitution - Missense 9:81585514-81585514 - cSCCP6 COSM136719 c.1646G>A p.G549E Substitution - Missense 9:81590988-81590988 - H1155 COSM1196014 c.2207C>G p.S736C Substitution - Missense 9:81584304-81584304 - TCGA-60-2708-01 COSM754108 c.1852G>C p.G618R Substitution - Missense 9:81587806-81587806 - S0080 COSM5884886 c.2146A>G p.T716A Substitution - Missense 9:81584507-81584507 - TCGA-AZ-6598-01 COSM1463184 c.1407C>T p.P469P Substitution - coding silent 9:81593199-81593199 - I2L-P24Tb-Tumor-Organoid COSM5359431 c.1101A>G p.P367P Substitution - coding silent 9:81611922-81611922 - TCGA-37-5819-01 COSM754106 c.526C>T p.H176Y Substitution - Missense 9:81634148-81634148 - TCGA-D5-6928-01 COSM1463179 c.2100C>T p.C700C Substitution - coding silent 9:81585533-81585533 - PD4845a COSM5781502 c.1737C>T p.A579A Substitution - coding silent 9:81590897-81590897 - 134430 COSM326676 c.664A>G p.N222D Substitution - Missense 9:81620488-81620488 - TCGA-EE-A20C-06 COSM1463184 c.1407C>T p.P469P Substitution - coding silent 9:81593199-81593199 - 2492701 COSM5715900 c.1312G>T p.G438* Substitution - Nonsense 9:81610239-81610239 - Gp5D COSM3219099 c.1291A>G p.T431A Substitution - Missense 9:81610260-81610260 - TCGA-CM-6161-01 COSM1463181 c.1680G>A p.A560A Substitution - coding silent 9:81590954-81590954 - CHLA-258 COSM4588970 c.1212A>G p.A404A Substitution - coding silent 9:81611811-81611811 - TCGA-D1-A16X-01 COSM1110431 c.2299G>T p.E767* Substitution - Nonsense 9:81584212-81584212 - T3116 COSM3908332 c.1326G>A p.G442G Substitution - coding silent 9:81610225-81610225 - TCGA-DM-A1D6-01 COSM1463189 c.195T>C p.Y65Y Substitution - coding silent 9:81685715-81685715 - ESCC_BICR_047T COSM3219069 c.2071A>G p.K691E Substitution - Missense 9:81585562-81585562 - Pat_58_A COSM5876461 c.260C>T p.T87M Substitution - Missense 9:81654011-81654011 - HCC115T COSM1625157 c.1857_1860delCAGC p.S620fs*66 Deletion - Frameshift 9:81587798-81587801 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.197320 9q21.32 600189 2402755|CGAP|BC010100|C/T|coding|Thr563Thr|2129|Validated; 2402755|CGAP|BC015747|C/T|coding|Thr563Thr|1839|Validated Hs.689729;Hs.689731;Hs.689732;Hs.689733;Hs.689734;Hs.689735;Hs.689736;Hs.689737;Hs.689738;Hs.689739;Hs.689741;Hs.689742;Hs.689744;Hs.689745;Hs.689746;Hs.689747;Hs.689749;Hs.689750;Hs.689751;Hs.689752;Hs.689754;Hs.689755;Hs.689756;Hs.689757;Hs.689758;Hs.689760;Hs.689761;Hs.689762;Hs.689763;Hs.689764;Hs.689765;Hs.689766;Hs.689767;Hs.689769;Hs.689770;Hs.689771;Hs.689772;Hs.689773;Hs.689774;Hs.689776;Hs.689777;Hs.689778;Hs.689779;Hs.689780;Hs.689781;Hs.689782;Hs.689783;Hs.689784;Hs.689785;Hs.689786;Hs.689787;Hs.689788;Hs.689789;Hs.689790;Hs.689791;Hs.689792;Hs.689793;Hs.689794;Hs.689803;Hs.689804;Hs.689805 9q21.32 600189 2402755|CGAP|BC010100|C/T|coding|Thr563Thr|2129|Validated; 2402755|CGAP|BC015747|C/T|coding|Thr563Thr|1839|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer - AA Nonsense p.R209*fs*1 c.623_624insTT 9 84235444 UCEC A C IntronicSNV . c.235-6898T>G 9 84275849 CLL A T Missense p.I81N c.242T>A 9 84268944 CM A T Missense p.V686E c.2057T>A 9 84200491 OV ATTT - IntronicDeletion . c.234+12404_234+12407delAAAT 9 84288184 CLL C A Missense p.D238Y c.712G>T 9 84231614 LUSC C A Missense p.G373W c.1117G>T 9 84226821 CLL C A Missense p.R476L c.1427G>T 9 84208094 SCLC C A Missense p.R610S c.1830G>T 9 84202743 BRCA C A Nonsense p.G618* c.1852G>T 9 84202721 LUAD C A Synonymous p.T633T c.1899G>T 9 84202674 UCEC C - Frameshift p.G618Efs*69 c.1853delG 9 84202720 HNSC C - Frameshift p.T727Pfs*28 c.2178delG 9 84199390 HNSC CGCAGGTCCCAGGACCTGACT - InFrameDeletion p.V640_R646delVRSWDLR c.1917_1937delAGTCAGGTCCTGGGACCTGCG 9 84202636 UCEC C G Missense p.D282H c.844G>C 9 84230971 HNSC C G Missense p.G124A c.371G>C 9 84267130 CM C G Missense p.G618R c.1852G>C 9 84202721 LUSC C G Missense p.G618R c.1852G>C 9 84202721 NSCLC C G Missense p.R194T c.581G>C 9 84248276 BRCA C T IntronicSNV . c.234+9285G>A 9 84291306 PIA C T Missense p.A291T c.871G>A 9 84230944 BLCA C T Missense p.A576T c.1726G>A 9 84205823 RCCC C T Missense p.D751N c.2251G>A 9 84199175 BRCA C T Missense p.G618R c.1852G>A 9 84202721 UCEC GAG - InFrameDeletion p.L722delL c.2164_2166delCTC 9 84199402 UCEC G A IntronicSNV . c.1332-6703C>T 9 84214892 MM G A IntronicSNV . c.235-13445C>T 9 84282396 CLL G A Missense p.A560V c.1679C>T 9 84205870 COREAD G A Missense p.H176Y c.526C>T 9 84249063 LUSC G A Missense p.H426Y c.1276C>T 9 84225190 CM G A Missense p.R277C c.829C>T 9 84230986 CM G A Missense p.R534C c.1600C>T 9 84205949 UCEC G A Synonymous p.D325D c.975C>T 9 84228380 LUAD G A Synonymous p.L208L c.622C>T 9 84235445 BLCA G A Synonymous p.L527L c.1579C>T 9 84207942 MM G A Synonymous p.N247N c.741C>T 9 84231585 CM G A Synonymous p.P469P c.1407C>T 9 84208114 CM G A Synonymous p.R646R c.1938C>T 9 84202635 UCEC G A Synonymous p.T668T c.2004C>T 9 84200544 GBM G C Missense p.C488W c.1464C>G 9 84208057 NB G C Missense p.P287A c.859C>G 9 84230956 BLCA G C Missense p.P520A c.1558C>G 9 84207963 ESCA G - Frameshift p.P425Lfs*3 c.1274delC 9 84225192 STAD G T 3-UTRSNV . c.2310+224C>A 9 84198892 MB - T 3-UTRInsertion . c.2310+98dupA 9 84199018 CM T A Synonymous p.T319T c.957A>T 9 84228398 HNSC T C IntronicSNV . c.1829+4A>G 9 84205716 ESCA T C Missense p.I754V c.2260A>G 9 84199166 LUSC T C Missense p.N222D c.664A>G 9 84235403 SCLC T C Missense p.T616A c.1846A>G 9 84202727 BRCA T C Missense p.Y753C c.2258A>G 9 84199168 PRAD T C Synonymous p.E219E c.657A>G 9 84235410 ESCA TCTG - SpliceAcceptorDeletion . c.579_582delCAGA 9 84248275 UCEC TG CC IntronicBlockSubstitution . c.1830-104_1830-103delinsGG 9 84202846 ESCA T G Missense p.E255A c.764A>C 9 84231562 PAAD TTAAA - IntronicDeletion . c.234+12401_234+12405delTTTAA 9 84288186 CLL