Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 8 38162210 38162210 + Missense_Mutation SNP C C T TCGA-OR-A5LJ-01A-11D-A29I-10 TCGA-OR-A5LJ-10A-01D-A29L-10 g.chr8:38162210C>T c.2506G>A c.(2506-2508)Gga>Aga p.G836R BLCA 8 38133176 38133176 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 g.chr8:38133176C>T c.4297G>A c.(4297-4299)Gaa>Aaa p.E1433K BLCA 8 38133224 38133224 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 g.chr8:38133224C>G c.4249G>C c.(4249-4251)Gaa>Caa p.E1417Q BLCA 8 38133860 38133860 + Silent SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 g.chr8:38133860G>C c.4026C>G c.(4024-4026)ccC>ccG p.P1342P BLCA 8 38133960 38133960 + Missense_Mutation SNP C C T TCGA-XF-A9T5-01A-11D-A42E-08 TCGA-XF-A9T5-10A-01D-A42H-08 g.chr8:38133960C>T c.3926G>A c.(3925-3927)aGa>aAa p.R1309K BLCA 8 38148131 38148131 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr8:38148131C>T c.2980G>A c.(2980-2982)Gac>Aac p.D994N BLCA 8 38172198 38172198 + Missense_Mutation SNP C C T TCGA-FD-A62P-01A-32D-A30E-08 TCGA-FD-A62P-10A-01D-A30H-08 g.chr8:38172198C>T c.2209G>A c.(2209-2211)Gat>Aat p.D737N BLCA 8 38172275 38172275 + Missense_Mutation SNP C C T TCGA-E7-A7XN-01A-11D-A34U-08 TCGA-E7-A7XN-10A-01D-A34X-08 g.chr8:38172275C>T c.2132G>A c.(2131-2133)gGt>gAt p.G711D BLCA 8 38172276 38172276 + Missense_Mutation SNP C C A TCGA-E7-A7XN-01A-11D-A34U-08 TCGA-E7-A7XN-10A-01D-A34X-08 g.chr8:38172276C>A c.2131G>T c.(2131-2133)Ggt>Tgt p.G711C BLCA 8 38172285 38172285 + Missense_Mutation SNP C C G TCGA-XF-A9SJ-01A-11D-A391-08 TCGA-XF-A9SJ-10A-01D-A394-08 g.chr8:38172285C>G c.2122G>C c.(2122-2124)Gaa>Caa p.E708Q BLCA 8 38172986 38172986 + Missense_Mutation SNP G G A TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 g.chr8:38172986G>A c.2063C>T c.(2062-2064)tCa>tTa p.S688L BLCA 8 38173456 38173456 + Missense_Mutation SNP C C T TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr8:38173456C>T c.1960G>A c.(1960-1962)Gat>Aat p.D654N BLCA 8 38173473 38173473 + Missense_Mutation SNP C C G TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 g.chr8:38173473C>G c.1943G>C c.(1942-1944)aGa>aCa p.R648T BLCA 8 38175525 38175525 + Intron SNP G G C TCGA-UY-A78K-01A-11D-A339-08 TCGA-UY-A78K-10A-01D-A339-08 g.chr8:38175525G>C BLCA 8 38175548 38175548 + Intron SNP C C G TCGA-FD-A6TI-01A-11D-A32B-08 TCGA-FD-A6TI-10A-01D-A329-08 g.chr8:38175548C>G BLCA 8 38184304 38184304 + Missense_Mutation SNP C C G TCGA-SY-A9G5-01A-11D-A38G-08 TCGA-SY-A9G5-10A-01D-A38J-08 g.chr8:38184304C>G c.1652G>C c.(1651-1653)aGa>aCa p.R551T BLCA 8 38194862 38194862 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 g.chr8:38194862C>G c.871G>C c.(871-873)Gat>Cat p.D291H BLCA 8 38196111 38196111 + Missense_Mutation SNP C C G TCGA-KQ-A41N-01A-11D-A339-08 TCGA-KQ-A41N-10D-01D-A339-08 g.chr8:38196111C>G c.690G>C c.(688-690)agG>agC p.R230S BLCA 8 38205204 38205204 + Missense_Mutation SNP C C G TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 g.chr8:38205204C>G c.486G>C c.(484-486)caG>caC p.Q162H BRCA 8 38146045 38146045 + Missense_Mutation SNP C C T TCGA-AO-A1KS-01A-11D-A13L-09 TCGA-AO-A1KS-10A-01W-A14R-09 g.chr8:38146045C>T c.3461G>A c.(3460-3462)cGg>cAg p.R1154Q BRCA 8 38162118 38162118 + Silent SNP G G A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr8:38162118G>A c.2598C>T c.(2596-2598)ttC>ttT p.F866F BRCA 8 38162250 38162250 + Silent SNP A A G TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr8:38162250A>G c.2466T>C c.(2464-2466)tgT>tgC p.C822C BRCA 8 38162915 38162915 + Missense_Mutation SNP C C T TCGA-E2-A1II-01A-11D-A142-09 TCGA-E2-A1II-10A-01D-A142-09 g.chr8:38162915C>T c.2291G>A c.(2290-2292)cGt>cAt p.R764H BRCA 8 38172281 38172281 + Missense_Mutation SNP C C G TCGA-A8-A09M-01A-11W-A019-09 TCGA-A8-A09M-10A-01W-A021-09 g.chr8:38172281C>G c.2126G>C c.(2125-2127)aGc>aCc p.S709T BRCA 8 38172997 38172997 + Silent SNP C C T TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 g.chr8:38172997C>T c.2052G>A c.(2050-2052)caG>caA p.Q684Q BRCA 8 38173007 38173007 + Missense_Mutation SNP G G A TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr8:38173007G>A c.2042C>T c.(2041-2043)tCt>tTt p.S681F BRCA 8 38173482 38173482 + Nonsense_Mutation SNP G G C TCGA-E9-A247-01A-11D-A167-09 TCGA-E9-A247-10A-01D-A167-09 g.chr8:38173482G>C c.1934C>G c.(1933-1935)tCa>tGa p.S645* BRCA 8 38187391 38187391 + Silent SNP C C T TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 g.chr8:38187391C>T c.1086G>A c.(1084-1086)caG>caA p.Q362Q CESC 8 38172265 38172265 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr8:38172265C>T c.2142G>A c.(2140-2142)ctG>ctA p.L714L CESC 8 38173490 38173490 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr8:38173490C>G c.1926G>C c.(1924-1926)atG>atC p.M642I CESC 8 38205256 38205256 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 g.chr8:38205256G>A c.434C>T c.(433-435)cCa>cTa p.P145L CESC 8 38205669 38205669 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 g.chr8:38205669G>C c.21C>G c.(19-21)ttC>ttG p.F7L CHOL 8 38157087 38157087 + Nonsense_Mutation SNP G G T TCGA-ZD-A8I3-01A-11D-A417-09 TCGA-ZD-A8I3-10A-01D-A41A-09 g.chr8:38157087G>T c.2633C>A c.(2632-2634)tCa>tAa p.S878* CHOL 8 38205356 38205356 + Missense_Mutation SNP A A G TCGA-W5-AA39-01A-11D-A417-09 TCGA-W5-AA39-10A-01D-A41A-09 g.chr8:38205356A>G c.334T>C c.(334-336)Tat>Cat p.Y112H COAD 8 38133164 38133164 + Nonsense_Mutation SNP C C A TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr8:38133164C>A c.4309G>T c.(4309-4311)Gaa>Taa p.E1437* COAD 8 38133957 38133957 + Missense_Mutation SNP C C T TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr8:38133957C>T c.3929G>A c.(3928-3930)cGa>cAa p.R1310Q COAD 8 38137154 38137154 + Missense_Mutation SNP T T C TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr8:38137154T>C c.3664A>G c.(3664-3666)Atg>Gtg p.M1222V COAD 8 38139035 38139035 + Nonsense_Mutation SNP G G A TCGA-AD-6888-01A-11D-1924-10 TCGA-AD-6888-10A-01D-1924-10 g.chr8:38139035G>A c.3568C>T c.(3568-3570)Cga>Tga p.R1190* COAD 8 38148122 38148122 + Frame_Shift_Del DEL C C - TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr8:38148122delC c.2989delG c.(2989-2991)gacfs p.D997fs COAD 8 38162193 38162193 + Silent SNP G G A TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr8:38162193G>A c.2523C>T c.(2521-2523)tcC>tcT p.S841S COAD 8 38162809 38162809 + Silent SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr8:38162809G>A c.2397C>T c.(2395-2397)tgC>tgT p.C799C COAD 8 38162828 38162828 + Missense_Mutation SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr8:38162828C>T c.2378G>A c.(2377-2379)cGc>cAc p.R793H COAD 8 38184289 38184289 + Missense_Mutation SNP G G A TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr8:38184289G>A c.1667C>T c.(1666-1668)aCg>aTg p.T556M COAD 8 38186924 38186924 + Missense_Mutation SNP A A C TCGA-AA-3555-01A-01W-0831-10 TCGA-AA-3555-10A-01W-0831-10 g.chr8:38186924A>C c.1553T>G c.(1552-1554)tTt>tGt p.F518C COAD 8 38187341 38187341 + Missense_Mutation SNP A A G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr8:38187341A>G c.1136T>C c.(1135-1137)tTg>tCg p.L379S COAD 8 38205575 38205575 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr8:38205575C>T c.115G>A c.(115-117)Gac>Aac p.D39N COADREAD 8 38133164 38133164 + Nonsense_Mutation SNP C C A TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr8:38133164C>A c.4309G>T c.(4309-4311)Gaa>Taa p.E1437* COADREAD 8 38133957 38133957 + Missense_Mutation SNP C C T TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr8:38133957C>T c.3929G>A c.(3928-3930)cGa>cAa p.R1310Q COADREAD 8 38137154 38137154 + Missense_Mutation SNP T T C TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr8:38137154T>C c.3664A>G c.(3664-3666)Atg>Gtg p.M1222V COADREAD 8 38139035 38139035 + Nonsense_Mutation SNP G G A TCGA-AD-6888-01A-11D-1924-10 TCGA-AD-6888-10A-01D-1924-10 g.chr8:38139035G>A c.3568C>T c.(3568-3570)Cga>Tga p.R1190* COADREAD 8 38148122 38148122 + Frame_Shift_Del DEL C C - TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr8:38148122delC c.2989delG c.(2989-2991)gacfs p.D997fs COADREAD 8 38162193 38162193 + Silent SNP G G A TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr8:38162193G>A c.2523C>T c.(2521-2523)tcC>tcT p.S841S COADREAD 8 38162809 38162809 + Silent SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr8:38162809G>A c.2397C>T c.(2395-2397)tgC>tgT p.C799C COADREAD 8 38162828 38162828 + Missense_Mutation SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr8:38162828C>T c.2378G>A c.(2377-2379)cGc>cAc p.R793H COADREAD 8 38184289 38184289 + Missense_Mutation SNP G G A TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr8:38184289G>A c.1667C>T c.(1666-1668)aCg>aTg p.T556M COADREAD 8 38186924 38186924 + Missense_Mutation SNP A A C TCGA-AA-3555-01A-01W-0831-10 TCGA-AA-3555-10A-01W-0831-10 g.chr8:38186924A>C c.1553T>G c.(1552-1554)tTt>tGt p.F518C COADREAD 8 38187341 38187341 + Missense_Mutation SNP A A G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr8:38187341A>G c.1136T>C c.(1135-1137)tTg>tCg p.L379S COADREAD 8 38205575 38205575 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr8:38205575C>T c.115G>A c.(115-117)Gac>Aac p.D39N DLBC 8 38205133 38205133 + Missense_Mutation SNP G G A TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr8:38205133G>A c.557C>T c.(556-558)aCg>aTg p.T186M ESCA 8 38133346 38133346 + Missense_Mutation SNP G G T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 g.chr8:38133346G>T c.4127C>A c.(4126-4128)tCc>tAc p.S1376Y ESCA 8 38135883 38135883 + Nonsense_Mutation SNP T T A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 g.chr8:38135883T>A c.3808A>T c.(3808-3810)Aga>Tga p.R1270* ESCA 8 38137195 38137195 + Missense_Mutation SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 g.chr8:38137195C>T c.3623G>A c.(3622-3624)cGt>cAt p.R1208H ESCA 8 38173482 38173482 + Nonsense_Mutation SNP G G T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 g.chr8:38173482G>T c.1934C>A c.(1933-1935)tCa>tAa p.S645* ESCA 8 38187059 38187059 + Missense_Mutation SNP G G T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 g.chr8:38187059G>T c.1418C>A c.(1417-1419)gCg>gAg p.A473E GBM 8 38148069 38148069 + Silent SNP G G A TCGA-27-2518-01A-01D-1494-08 TCGA-27-2518-10A-01D-1494-08 g.chr8:38148069G>A c.3042C>T c.(3040-3042)ggC>ggT p.G1014G GBMLGG 8 38148069 38148069 + Silent SNP G G A TCGA-27-2518-01A-01D-1494-08 TCGA-27-2518-10A-01D-1494-08 g.chr8:38148069G>A c.3042C>T c.(3040-3042)ggC>ggT p.G1014G GBMLGG 8 38162272 38162272 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr8:38162272C>T c.2444G>A c.(2443-2445)cGc>cAc p.R815H GBMLGG 8 38173513 38173513 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr8:38173513G>A c.1903C>T c.(1903-1905)Cgc>Tgc p.R635C GBMLGG 8 38187117 38187117 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr8:38187117G>A c.1360C>T c.(1360-1362)Cgg>Tgg p.R454W GBMLGG 8 38187124 38187124 + Silent SNP G G A TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 g.chr8:38187124G>A c.1353C>T c.(1351-1353)agC>agT p.S451S GBMLGG 8 38187162 38187162 + Missense_Mutation SNP C C T TCGA-DU-A6S7-01A-21D-A32B-08 TCGA-DU-A6S7-10A-01D-A329-08 g.chr8:38187162C>T c.1315G>A c.(1315-1317)Gcc>Acc p.A439T HNSC 8 38146050 38146050 + Silent SNP C C T TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 g.chr8:38146050C>T c.3456G>A c.(3454-3456)acG>acA p.T1152T HNSC 8 38146196 38146196 + Missense_Mutation SNP C C G TCGA-KU-A66S-01A-21D-A30E-08 TCGA-KU-A66S-10A-01D-A30H-08 g.chr8:38146196C>G c.3310G>C c.(3310-3312)Gat>Cat p.D1104H HNSC 8 38148029 38148029 + Missense_Mutation SNP C C T TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 g.chr8:38148029C>T c.3082G>A c.(3082-3084)Gaa>Aaa p.E1028K HNSC 8 38148153 38148153 + Silent SNP C C A TCGA-CV-A6K2-01A-11D-A31L-08 TCGA-CV-A6K2-10A-01D-A31J-08 g.chr8:38148153C>A c.2958G>T c.(2956-2958)ctG>ctT p.L986L HNSC 8 38162107 38162107 + Missense_Mutation SNP C C G TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 g.chr8:38162107C>G c.2609G>C c.(2608-2610)aGa>aCa p.R870T HNSC 8 38162181 38162181 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 g.chr8:38162181G>A c.2535C>T c.(2533-2535)ctC>ctT p.L845L HNSC 8 38162186 38162186 + Missense_Mutation SNP T T C TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 g.chr8:38162186T>C c.2530A>G c.(2530-2532)Att>Gtt p.I844V HNSC 8 38172932 38172932 + Splice_Site SNP A A T TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 g.chr8:38172932A>T c.e11+1 HNSC 8 38172976 38172976 + Silent SNP C C T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 g.chr8:38172976C>T c.2073G>A c.(2071-2073)tcG>tcA p.S691S HNSC 8 38205401 38205401 + Missense_Mutation SNP C C T TCGA-KU-A66T-01A-11D-A30E-08 TCGA-KU-A66T-10A-01D-A30H-08 g.chr8:38205401C>T c.289G>A c.(289-291)Gcc>Acc p.A97T KIPAN 8 38135924 38135924 + Missense_Mutation SNP T T G TCGA-BP-4963-01A-01D-1462-08 TCGA-BP-4963-11A-01D-1462-08 g.chr8:38135924T>G c.3767A>C c.(3766-3768)gAg>gCg p.E1256A KIPAN 8 38139060 38139060 + Frame_Shift_Del DEL T T - TCGA-BP-5192-01A-01D-1429-08 TCGA-BP-5192-11A-01D-1429-08 g.chr8:38139060delT c.3543delA c.(3541-3543)gaafs p.E1183fs KIPAN 8 38173525 38173525 + Missense_Mutation SNP T T C TCGA-BP-4982-01A-01D-1462-08 TCGA-BP-4982-11A-01D-1462-08 g.chr8:38173525T>C c.1891A>G c.(1891-1893)Aag>Gag p.K631E KIPAN 8 38175506 38175506 + Intron SNP C C T TCGA-GL-A59T-01A-21D-A28G-10 TCGA-GL-A59T-10A-01D-A28G-10 g.chr8:38175506C>T KIPAN 8 38189086 38189086 + Missense_Mutation SNP C C A TCGA-A3-3357-01A-02D-1421-08 TCGA-A3-3357-11A-01D-1421-08 g.chr8:38189086C>A c.928G>T c.(928-930)Gtc>Ttc p.V310F KIPAN 8 38205403 38205403 + Nonsense_Mutation SNP G G T TCGA-B0-4839-01A-01D-1373-10 TCGA-B0-4839-11A-01D-1373-10 g.chr8:38205403G>T c.287C>A c.(286-288)tCa>tAa p.S96* KIRC 8 38135924 38135924 + Missense_Mutation SNP T T G TCGA-BP-4963-01A-01D-1462-08 TCGA-BP-4963-11A-01D-1462-08 g.chr8:38135924T>G c.3767A>C c.(3766-3768)gAg>gCg p.E1256A KIRC 8 38139060 38139060 + Frame_Shift_Del DEL T T - TCGA-BP-5192-01A-01D-1429-08 TCGA-BP-5192-11A-01D-1429-08 g.chr8:38139060delT c.3543delA c.(3541-3543)gaafs p.E1183fs KIRC 8 38173525 38173525 + Missense_Mutation SNP T T C TCGA-BP-4982-01A-01D-1462-08 TCGA-BP-4982-11A-01D-1462-08 g.chr8:38173525T>C c.1891A>G c.(1891-1893)Aag>Gag p.K631E KIRC 8 38189086 38189086 + Missense_Mutation SNP C C A TCGA-A3-3357-01A-02D-1421-08 TCGA-A3-3357-11A-01D-1421-08 g.chr8:38189086C>A c.928G>T c.(928-930)Gtc>Ttc p.V310F KIRC 8 38205403 38205403 + Nonsense_Mutation SNP G G T TCGA-B0-4839-01A-01D-1373-10 TCGA-B0-4839-11A-01D-1373-10 g.chr8:38205403G>T c.287C>A c.(286-288)tCa>tAa p.S96* KIRP 8 38175506 38175506 + Intron SNP C C T TCGA-GL-A59T-01A-21D-A28G-10 TCGA-GL-A59T-10A-01D-A28G-10 g.chr8:38175506C>T LGG 8 38162272 38162272 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr8:38162272C>T c.2444G>A c.(2443-2445)cGc>cAc p.R815H LGG 8 38173513 38173513 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr8:38173513G>A c.1903C>T c.(1903-1905)Cgc>Tgc p.R635C LGG 8 38187117 38187117 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr8:38187117G>A c.1360C>T c.(1360-1362)Cgg>Tgg p.R454W LGG 8 38187124 38187124 + Silent SNP G G A TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 g.chr8:38187124G>A c.1353C>T c.(1351-1353)agC>agT p.S451S LGG 8 38187162 38187162 + Missense_Mutation SNP C C T TCGA-DU-A6S7-01A-21D-A32B-08 TCGA-DU-A6S7-10A-01D-A329-08 g.chr8:38187162C>T c.1315G>A c.(1315-1317)Gcc>Acc p.A439T LIHC 8 38133282 38133282 + Silent SNP A A T TCGA-DD-A4NP-01A-11D-A28X-10 TCGA-DD-A4NP-10A-01D-A28X-10 g.chr8:38133282A>T c.4191T>A c.(4189-4191)tcT>tcA p.S1397S LIHC 8 38146052 38146052 + Frame_Shift_Del DEL T T - TCGA-DD-A1EG-01A-11D-A20W-10 TCGA-DD-A1EG-10A-01D-A20W-10 g.chr8:38146052delT c.3454delA c.(3454-3456)acgfs p.T1152fs LIHC 8 38146244 38146244 + Nonsense_Mutation SNP G G A TCGA-XR-A8TC-01A-11D-A35Z-10 TCGA-XR-A8TC-10A-01D-A35Z-10 g.chr8:38146244G>A c.3262C>T c.(3262-3264)Cag>Tag p.Q1088* LIHC 8 38148152 38148153 + Missense_Mutation DNP TC TC AG TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chr8:38148152_38148153TC>AG c.2958_2959GA>CT c.(2956-2961)ctGAac>ctCTac p.N987Y LIHC 8 38173035 38173035 + Missense_Mutation SNP G G T TCGA-EP-A2KB-01A-11D-A183-10 TCGA-EP-A2KB-10A-01D-A183-10 g.chr8:38173035G>T c.2014C>A c.(2014-2016)Cct>Act p.P672T LIHC 8 38178646 38178646 + Missense_Mutation SNP A A G TCGA-DD-A39Y-01A-11D-A20W-10 TCGA-DD-A39Y-11A-11D-A20W-10 g.chr8:38178646A>G c.1753T>C c.(1753-1755)Tct>Cct p.S585P LIHC 8 38184373 38184373 + Splice_Site SNP C C T TCGA-4R-AA8I-01A-11D-A382-10 TCGA-4R-AA8I-10B-01D-A385-10 g.chr8:38184373C>T c.1583G>A c.(1582-1584)gGa>gAa p.G528E LIHC 8 38205330 38205330 + Silent SNP T T C TCGA-DD-A3A0-01A-11D-A20W-10 TCGA-DD-A3A0-11A-11D-A20W-10 g.chr8:38205330T>C c.360A>G c.(358-360)agA>agG p.R120R LUAD 8 38133995 38133995 + Missense_Mutation SNP T T G TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 g.chr8:38133995T>G c.3891A>C c.(3889-3891)gaA>gaC p.E1297D LUAD 8 38146170 38146170 + Silent SNP C C A TCGA-62-A46O-01A-11D-A24D-08 TCGA-62-A46O-10A-01D-A24F-08 g.chr8:38146170C>A c.3336G>T c.(3334-3336)tcG>tcT p.S1112S LUAD 8 38146269 38146269 + Missense_Mutation SNP G G C TCGA-55-8092-01A-11D-2238-08 TCGA-55-8092-10A-01D-2238-08 g.chr8:38146269G>C c.3237C>G c.(3235-3237)aaC>aaG p.N1079K LUAD 8 38146989 38146989 + Silent SNP C C T TCGA-91-8499-01A-11D-2393-08 TCGA-91-8499-10A-01D-2393-08 g.chr8:38146989C>T c.3153G>A c.(3151-3153)ttG>ttA p.L1051L LUAD 8 38162187 38162187 + Silent SNP G G A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 g.chr8:38162187G>A c.2529C>T c.(2527-2529)taC>taT p.Y843Y LUAD 8 38172976 38172976 + Silent SNP C C T TCGA-69-7979-01A-11D-2184-08 TCGA-69-7979-10A-01D-2184-08 g.chr8:38172976C>T c.2073G>A c.(2071-2073)tcG>tcA p.S691S LUAD 8 38173510 38173510 + Missense_Mutation SNP C C T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 g.chr8:38173510C>T c.1906G>A c.(1906-1908)Gcc>Acc p.A636T LUAD 8 38175482 38175482 + Intron SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 g.chr8:38175482C>A LUAD 8 38187102 38187102 + Missense_Mutation SNP C C T TCGA-91-8499-01A-11D-2393-08 TCGA-91-8499-10A-01D-2393-08 g.chr8:38187102C>T c.1375G>A c.(1375-1377)Gaa>Aaa p.E459K LUAD 8 38189015 38189015 + Silent SNP A A G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 g.chr8:38189015A>G c.999T>C c.(997-999)caT>caC p.H333H LUAD 8 38189081 38189081 + Silent SNP C C T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 g.chr8:38189081C>T c.933G>A c.(931-933)caG>caA p.Q311Q LUAD 8 38196064 38196064 + Missense_Mutation SNP T T A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 g.chr8:38196064T>A c.737A>T c.(736-738)gAg>gTg p.E246V LUAD 8 38205092 38205092 + Frame_Shift_Del DEL T T - TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 g.chr8:38205092delT c.598delA c.(598-600)agcfs p.S200fs LUAD 8 38205598 38205598 + Missense_Mutation SNP T T A TCGA-86-8279-01A-11D-2284-08 TCGA-86-8279-10A-01D-2284-08 g.chr8:38205598T>A c.92A>T c.(91-93)gAg>gTg p.E31V LUSC 8 38133958 38133958 + Nonsense_Mutation SNP G G A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 g.chr8:38133958G>A c.3928C>T c.(3928-3930)Cga>Tga p.R1310* LUSC 8 38146064 38146064 + Missense_Mutation SNP C C T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 g.chr8:38146064C>T c.3442G>A c.(3442-3444)Gag>Aag p.E1148K LUSC 8 38146112 38146112 + Missense_Mutation SNP C C T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 g.chr8:38146112C>T c.3394G>A c.(3394-3396)Gat>Aat p.D1132N LUSC 8 38146142 38146142 + Missense_Mutation SNP C C T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 g.chr8:38146142C>T c.3364G>A c.(3364-3366)Gaa>Aaa p.E1122K LUSC 8 38146156 38146156 + Missense_Mutation SNP C C T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 g.chr8:38146156C>T c.3350G>A c.(3349-3351)aGa>aAa p.R1117K LUSC 8 38153399 38153399 + Missense_Mutation SNP C C T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 g.chr8:38153399C>T c.2830G>A c.(2830-2832)Gaa>Aaa p.E944K LUSC 8 38157060 38157060 + Missense_Mutation SNP T T C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 g.chr8:38157060T>C c.2660A>G c.(2659-2661)tAt>tGt p.Y887C LUSC 8 38162108 38162108 + Nonsense_Mutation SNP T T A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 g.chr8:38162108T>A c.2608A>T c.(2608-2610)Aga>Tga p.R870* LUSC 8 38162894 38162894 + Missense_Mutation SNP C C A TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 g.chr8:38162894C>A c.2312G>T c.(2311-2313)gGg>gTg p.G771V LUSC 8 38173512 38173512 + Missense_Mutation SNP C C T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 g.chr8:38173512C>T c.1904G>A c.(1903-1905)cGc>cAc p.R635H LUSC 8 38186925 38186925 + Missense_Mutation SNP A A G TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 g.chr8:38186925A>G c.1552T>C c.(1552-1554)Ttt>Ctt p.F518L LUSC 8 38187141 38187141 + Missense_Mutation SNP C C G TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 g.chr8:38187141C>G c.1336G>C c.(1336-1338)Gaa>Caa p.E446Q LUSC 8 38187168 38187168 + Missense_Mutation SNP C C G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 g.chr8:38187168C>G c.1309G>C c.(1309-1311)Gag>Cag p.E437Q LUSC 8 38187351 38187351 + Missense_Mutation SNP C C T TCGA-21-5784-01A-01D-1632-08 TCGA-21-5784-10A-01D-1632-08 g.chr8:38187351C>T c.1126G>A c.(1126-1128)Gag>Aag p.E376K LUSC 8 38189054 38189054 + Silent SNP C C A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 g.chr8:38189054C>A c.960G>T c.(958-960)gcG>gcT p.A320A LUSC 8 38205569 38205569 + Missense_Mutation SNP C C T TCGA-66-2768-01A-01D-1522-08 TCGA-66-2768-11A-01D-1522-08 g.chr8:38205569C>T c.121G>A c.(121-123)Gct>Act p.A41T LUSC 8 38205604 38205604 + Missense_Mutation SNP C C T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 g.chr8:38205604C>T c.86G>A c.(85-87)cGt>cAt p.R29H OV 8 38146956 38146956 + Silent SNP C C T TCGA-61-1722-01A-01D-1556-09 TCGA-61-1722-11A-01W-0639-09 g.chr8:38146956C>T c.3186G>A c.(3184-3186)gaG>gaA p.E1062E PAAD 8 38133932 38133932 + Silent SNP C C T TCGA-FZ-5923-01A-12D-1609-08 TCGA-FZ-5923-11A-01D-1609-08 g.chr8:38133932C>T c.3954G>A c.(3952-3954)caG>caA p.Q1318Q PAAD 8 38205092 38205092 + Frame_Shift_Del DEL T T - TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 g.chr8:38205092delT c.598delA c.(598-600)agcfs p.S200fs PAAD 8 38205092 38205092 + Frame_Shift_Del DEL T T - TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 g.chr8:38205092delT c.598delA c.(598-600)agcfs p.S200fs PAAD 8 38205092 38205092 + Frame_Shift_Del DEL T T - TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 g.chr8:38205092delT c.598delA c.(598-600)agcfs p.S200fs PAAD 8 38205092 38205092 + Frame_Shift_Del DEL T T - TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 g.chr8:38205092delT c.598delA c.(598-600)agcfs p.S200fs PAAD 8 38205092 38205092 + Frame_Shift_Del DEL T T - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 g.chr8:38205092delT c.598delA c.(598-600)agcfs p.S200fs PAAD 8 38205614 38205614 + Missense_Mutation SNP C C T TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 g.chr8:38205614C>T c.76G>A c.(76-78)Gcc>Acc p.A26T PCPG 8 38175553 38175553 + Intron SNP G G T TCGA-QR-A70N-01A-12D-A35D-08 TCGA-QR-A70N-10A-01D-A35B-08 g.chr8:38175553G>T PRAD 8 38146134 38146135 + Frame_Shift_Ins INS - - T TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 g.chr8:38146134_38146135insT c.3371_3372insA c.(3370-3372)cacfs p.H1124fs PRAD 8 38157097 38157097 + Nonsense_Mutation SNP G G A TCGA-HC-7740-01A-11D-2114-08 TCGA-HC-7740-10A-01D-2115-08 g.chr8:38157097G>A c.2623C>T c.(2623-2625)Cag>Tag p.Q875* PRAD 8 38162867 38162867 + Missense_Mutation SNP C C T TCGA-CH-5792-01A-11D-1576-08 TCGA-CH-5792-10A-01D-1576-08 g.chr8:38162867C>T c.2339G>A c.(2338-2340)cGc>cAc p.R780H PRAD 8 38173511 38173511 + Silent SNP G G A TCGA-J4-AAU2-01A-11D-A41K-08 TCGA-J4-AAU2-10A-01D-A41N-08 g.chr8:38173511G>A c.1905C>T c.(1903-1905)cgC>cgT p.R635R PRAD 8 38205427 38205427 + Nonsense_Mutation SNP G G C TCGA-ZG-A9LB-01A-11D-A41K-08 TCGA-ZG-A9LB-10A-01D-A41N-08 g.chr8:38205427G>C c.263C>G c.(262-264)tCa>tGa p.S88* SKCM 8 38133817 38133817 + Missense_Mutation SNP A A G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 g.chr8:38133817A>G c.4069T>C c.(4069-4071)Tat>Cat p.Y1357H SKCM 8 38133953 38133953 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 g.chr8:38133953C>T c.3933G>A c.(3931-3933)aaG>aaA p.K1311K SKCM 8 38146187 38146187 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr8:38146187G>A c.3319C>T c.(3319-3321)Cct>Tct p.P1107S SKCM 8 38157053 38157053 + Silent SNP G G A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 g.chr8:38157053G>A c.2667C>T c.(2665-2667)tcC>tcT p.S889S SKCM 8 38184340 38184340 + Missense_Mutation SNP C C A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 g.chr8:38184340C>A c.1616G>T c.(1615-1617)gGg>gTg p.G539V SKCM 8 38187043 38187043 + Silent SNP G G A TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr8:38187043G>A c.1434C>T c.(1432-1434)tcC>tcT p.S478S SKCM 8 38187400 38187400 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr8:38187400G>A c.1077C>T c.(1075-1077)ccC>ccT p.P359P SKCM 8 38189091 38189091 + Missense_Mutation SNP T T A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 g.chr8:38189091T>A c.923A>T c.(922-924)tAt>tTt p.Y308F SKCM 8 38194888 38194888 + Missense_Mutation SNP G G A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 g.chr8:38194888G>A c.845C>T c.(844-846)cCt>cTt p.P282L SKCM 8 38194889 38194889 + Missense_Mutation SNP G G A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 g.chr8:38194889G>A c.844C>T c.(844-846)Cct>Tct p.P282S SKCM 8 38205261 38205261 + Silent SNP C C A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 g.chr8:38205261C>A c.429G>T c.(427-429)gtG>gtT p.V143V

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 8 38146958 38146958 single base substitution C G exon_variant BLCA-CN 8 38146958 38146958 single base substitution C G missense_variant E1013Q 3037G>C BLCA-CN 8 38146958 38146958 single base substitution C G missense_variant E1062Q 3184G>C BLCA-CN 8 38172292 38172292 single base substitution C T downstream_gene_variant BLCA-CN 8 38172292 38172292 single base substitution C T splice_acceptor_variant BLCA-US 8 38148131 38148131 single base substitution C T exon_variant BLCA-US 8 38148131 38148131 single base substitution C T missense_variant D945N 2833G>A BLCA-US 8 38148131 38148131 single base substitution C T missense_variant D994N 2980G>A BLCA-US 8 38173473 38173473 single base substitution C G downstream_gene_variant BLCA-US 8 38173473 38173473 single base substitution C G missense_variant R648T 1943G>C BOCA-FR 8 38133688 38133688 single base substitution A G intron_variant BRCA-EU 8 38122886 38122886 deletion of <=200bp T - downstream_gene_variant BRCA-EU 8 38126013 38126013 insertion of <=200bp - A downstream_gene_variant BRCA-EU 8 38126256 38126256 single base substitution C G downstream_gene_variant BRCA-EU 8 38127437 38127437 single base substitution A C 3_prime_UTR_variant BRCA-EU 8 38128173 38128173 single base substitution C T 3_prime_UTR_variant BRCA-EU 8 38128173 38128173 single base substitution C T downstream_gene_variant BRCA-EU 8 38131467 38131467 deletion of <=200bp A - 3_prime_UTR_variant BRCA-EU 8 38131467 38131467 deletion of <=200bp A - downstream_gene_variant BRCA-EU 8 38133960 38133960 single base substitution C G exon_variant BRCA-EU 8 38133960 38133960 single base substitution C G missense_variant R1260T 3779G>C BRCA-EU 8 38133960 38133960 single base substitution C G missense_variant R1298T 3893G>C BRCA-EU 8 38133960 38133960 single base substitution C G missense_variant R1309T 3926G>C BRCA-EU 8 38134701 38134701 single base substitution C T intron_variant BRCA-EU 8 38134858 38134860 deletion of <=200bp CGA - intron_variant BRCA-EU 8 38135249 38135249 single base substitution T A intron_variant BRCA-EU 8 38135702 38135702 single base substitution C A intron_variant BRCA-EU 8 38137845 38137845 single base substitution G A intron_variant BRCA-EU 8 38137845 38137845 single base substitution G A upstream_gene_variant BRCA-EU 8 38137859 38137859 single base substitution G A intron_variant BRCA-EU 8 38137859 38137859 single base substitution G A upstream_gene_variant BRCA-EU 8 38138007 38138007 single base substitution G A intron_variant BRCA-EU 8 38138007 38138007 single base substitution G A upstream_gene_variant BRCA-EU 8 38138122 38138122 single base substitution G A intron_variant BRCA-EU 8 38138122 38138122 single base substitution G A upstream_gene_variant BRCA-EU 8 38138174 38138175 deletion of <=200bp GA - intron_variant BRCA-EU 8 38138174 38138175 deletion of <=200bp GA - upstream_gene_variant BRCA-EU 8 38138334 38138334 single base substitution G A intron_variant BRCA-EU 8 38138334 38138334 single base substitution G A upstream_gene_variant BRCA-EU 8 38138499 38138499 single base substitution C T intron_variant BRCA-EU 8 38138499 38138499 single base substitution C T upstream_gene_variant BRCA-EU 8 38138602 38138602 single base substitution G A intron_variant BRCA-EU 8 38138602 38138602 single base substitution G A upstream_gene_variant BRCA-EU 8 38138720 38138720 single base substitution G A intron_variant BRCA-EU 8 38138720 38138720 single base substitution G A upstream_gene_variant BRCA-EU 8 38138732 38138732 single base substitution G C intron_variant BRCA-EU 8 38138732 38138732 single base substitution G C upstream_gene_variant BRCA-EU 8 38138924 38138924 single base substitution G A intron_variant BRCA-EU 8 38138924 38138924 single base substitution G A upstream_gene_variant BRCA-EU 8 38139225 38139225 single base substitution G C intron_variant BRCA-EU 8 38139225 38139225 single base substitution G C upstream_gene_variant BRCA-EU 8 38139342 38139342 single base substitution G A intron_variant BRCA-EU 8 38139342 38139342 single base substitution G A upstream_gene_variant BRCA-EU 8 38139412 38139412 single base substitution G A intron_variant BRCA-EU 8 38139412 38139412 single base substitution G A upstream_gene_variant BRCA-EU 8 38139451 38139451 single base substitution G A intron_variant BRCA-EU 8 38139451 38139451 single base substitution G A upstream_gene_variant BRCA-EU 8 38139462 38139462 single base substitution G C intron_variant BRCA-EU 8 38139462 38139462 single base substitution G C upstream_gene_variant BRCA-EU 8 38139467 38139467 single base substitution G A intron_variant BRCA-EU 8 38139467 38139467 single base substitution G A upstream_gene_variant BRCA-EU 8 38139482 38139482 single base substitution G A intron_variant BRCA-EU 8 38139482 38139482 single base substitution G A upstream_gene_variant BRCA-EU 8 38139655 38139655 single base substitution G C intron_variant BRCA-EU 8 38139655 38139655 single base substitution G C upstream_gene_variant BRCA-EU 8 38139666 38139666 single base substitution G A intron_variant BRCA-EU 8 38139666 38139666 single base substitution G A upstream_gene_variant BRCA-EU 8 38139760 38139760 single base substitution G A intron_variant BRCA-EU 8 38139760 38139760 single base substitution G A upstream_gene_variant BRCA-EU 8 38140178 38140178 single base substitution G A intron_variant BRCA-EU 8 38140178 38140178 single base substitution G A upstream_gene_variant BRCA-EU 8 38140202 38140202 insertion of <=200bp - A intron_variant BRCA-EU 8 38140202 38140202 insertion of <=200bp - A upstream_gene_variant BRCA-EU 8 38140218 38140218 single base substitution G C intron_variant BRCA-EU 8 38140218 38140218 single base substitution G C upstream_gene_variant BRCA-EU 8 38140237 38140237 single base substitution G A intron_variant BRCA-EU 8 38140237 38140237 single base substitution G A upstream_gene_variant BRCA-EU 8 38140259 38140259 single base substitution G C intron_variant BRCA-EU 8 38140259 38140259 single base substitution G C upstream_gene_variant BRCA-EU 8 38144680 38144680 single base substitution A G downstream_gene_variant BRCA-EU 8 38144680 38144680 single base substitution A G intron_variant BRCA-EU 8 38144681 38144681 single base substitution C A downstream_gene_variant BRCA-EU 8 38144681 38144681 single base substitution C A intron_variant BRCA-EU 8 38146366 38146366 single base substitution C T downstream_gene_variant BRCA-EU 8 38146366 38146366 single base substitution C T intron_variant BRCA-EU 8 38147555 38147555 single base substitution G A intron_variant BRCA-EU 8 38147906 38147906 single base substitution A G intron_variant BRCA-EU 8 38150490 38150490 deletion of <=200bp A - downstream_gene_variant BRCA-EU 8 38150490 38150490 deletion of <=200bp A - intron_variant BRCA-EU 8 38150490 38150490 deletion of <=200bp A - upstream_gene_variant BRCA-EU 8 38151791 38151791 deletion of <=200bp T - downstream_gene_variant BRCA-EU 8 38151791 38151791 deletion of <=200bp T - intron_variant BRCA-EU 8 38151791 38151791 deletion of <=200bp T - upstream_gene_variant BRCA-EU 8 38151999 38151999 single base substitution C T downstream_gene_variant BRCA-EU 8 38151999 38151999 single base substitution C T intron_variant BRCA-EU 8 38151999 38151999 single base substitution C T upstream_gene_variant BRCA-EU 8 38152538 38152538 single base substitution T A downstream_gene_variant BRCA-EU 8 38152538 38152538 single base substitution T A intron_variant BRCA-EU 8 38152538 38152538 single base substitution T A upstream_gene_variant BRCA-EU 8 38154123 38154123 single base substitution C T intron_variant BRCA-EU 8 38154890 38154890 single base substitution G A intron_variant BRCA-EU 8 38156754 38156754 single base substitution G C intron_variant BRCA-EU 8 38156925 38156925 single base substitution C T intron_variant BRCA-EU 8 38158348 38158348 single base substitution C G intron_variant BRCA-EU 8 38158348 38158348 single base substitution C G upstream_gene_variant BRCA-EU 8 38158485 38158485 single base substitution C G intron_variant BRCA-EU 8 38158485 38158485 single base substitution C G upstream_gene_variant BRCA-EU 8 38159584 38159584 single base substitution C T intron_variant BRCA-EU 8 38159584 38159584 single base substitution C T upstream_gene_variant BRCA-EU 8 38162008 38162008 single base substitution G C intron_variant BRCA-EU 8 38162008 38162008 single base substitution G C upstream_gene_variant BRCA-EU 8 38163528 38163528 single base substitution T C intron_variant BRCA-EU 8 38164089 38164089 single base substitution C G intron_variant BRCA-EU 8 38165571 38165571 single base substitution C T intron_variant BRCA-EU 8 38165823 38165823 deletion of <=200bp T - intron_variant BRCA-EU 8 38166436 38166436 single base substitution G A intron_variant BRCA-EU 8 38167830 38167830 single base substitution C T intron_variant BRCA-EU 8 38168506 38168506 single base substitution T C intron_variant BRCA-EU 8 38170482 38170482 single base substitution A C downstream_gene_variant BRCA-EU 8 38170482 38170482 single base substitution A C intron_variant BRCA-EU 8 38171566 38171566 single base substitution C T downstream_gene_variant BRCA-EU 8 38171566 38171566 single base substitution C T intron_variant BRCA-EU 8 38172082 38172082 single base substitution G C downstream_gene_variant BRCA-EU 8 38172082 38172082 single base substitution G C intron_variant BRCA-EU 8 38172708 38172708 single base substitution T A downstream_gene_variant BRCA-EU 8 38172708 38172708 single base substitution T A intron_variant BRCA-EU 8 38173334 38173334 single base substitution G C downstream_gene_variant BRCA-EU 8 38173334 38173334 single base substitution G C intron_variant BRCA-EU 8 38174032 38174032 single base substitution A G 3_prime_UTR_variant BRCA-EU 8 38174032 38174032 single base substitution A G downstream_gene_variant BRCA-EU 8 38174032 38174032 single base substitution A G intron_variant BRCA-EU 8 38174654 38174654 single base substitution G A 3_prime_UTR_variant BRCA-EU 8 38174654 38174654 single base substitution G A downstream_gene_variant BRCA-EU 8 38174654 38174654 single base substitution G A exon_variant BRCA-EU 8 38174654 38174654 single base substitution G A intron_variant BRCA-EU 8 38175072 38175072 single base substitution C T 3_prime_UTR_variant BRCA-EU 8 38175072 38175072 single base substitution C T downstream_gene_variant BRCA-EU 8 38175072 38175072 single base substitution C T exon_variant BRCA-EU 8 38175072 38175072 single base substitution C T intron_variant BRCA-EU 8 38175505 38175505 single base substitution A G downstream_gene_variant BRCA-EU 8 38175505 38175505 single base substitution A G exon_variant BRCA-EU 8 38175505 38175505 single base substitution A G intron_variant BRCA-EU 8 38175505 38175505 single base substitution A G missense_variant V636A 1907T>C BRCA-EU 8 38176181 38176181 single base substitution C G downstream_gene_variant BRCA-EU 8 38176181 38176181 single base substitution C G intron_variant BRCA-EU 8 38176501 38176501 deletion of <=200bp C - downstream_gene_variant BRCA-EU 8 38176501 38176501 deletion of <=200bp C - exon_variant BRCA-EU 8 38176501 38176501 deletion of <=200bp C - intron_variant BRCA-EU 8 38178724 38178724 single base substitution C A intron_variant BRCA-EU 8 38178724 38178724 single base substitution C A upstream_gene_variant BRCA-EU 8 38178949 38178949 single base substitution G C intron_variant BRCA-EU 8 38178949 38178949 single base substitution G C upstream_gene_variant BRCA-EU 8 38180187 38180187 single base substitution G T intron_variant BRCA-EU 8 38180187 38180187 single base substitution G T upstream_gene_variant BRCA-EU 8 38180561 38180561 deletion of <=200bp T - intron_variant BRCA-EU 8 38180561 38180561 deletion of <=200bp T - upstream_gene_variant BRCA-EU 8 38181647 38181647 single base substitution C T intron_variant BRCA-EU 8 38181647 38181647 single base substitution C T upstream_gene_variant BRCA-EU 8 38182250 38182250 single base substitution C G intron_variant BRCA-EU 8 38182609 38182609 single base substitution G A intron_variant BRCA-EU 8 38183786 38183786 single base substitution G C intron_variant BRCA-EU 8 38184714 38184714 single base substitution C T intron_variant BRCA-EU 8 38184714 38184714 single base substitution C T upstream_gene_variant BRCA-EU 8 38184874 38184874 insertion of <=200bp - A intron_variant BRCA-EU 8 38184874 38184874 insertion of <=200bp - A upstream_gene_variant BRCA-EU 8 38184882 38184882 deletion of <=200bp T - intron_variant BRCA-EU 8 38184882 38184882 deletion of <=200bp T - upstream_gene_variant BRCA-EU 8 38185048 38185048 single base substitution T A intron_variant BRCA-EU 8 38185048 38185048 single base substitution T A upstream_gene_variant BRCA-EU 8 38186281 38186281 single base substitution A T intron_variant BRCA-EU 8 38186281 38186281 single base substitution A T upstream_gene_variant BRCA-EU 8 38188793 38188793 single base substitution A T intron_variant BRCA-EU 8 38188793 38188793 single base substitution A T upstream_gene_variant BRCA-EU 8 38189523 38189523 single base substitution G A intron_variant BRCA-EU 8 38189605 38189605 single base substitution A G intron_variant BRCA-EU 8 38189762 38189762 single base substitution G C intron_variant BRCA-EU 8 38190223 38190223 single base substitution C G downstream_gene_variant BRCA-EU 8 38190223 38190223 single base substitution C G intron_variant BRCA-EU 8 38190236 38190236 single base substitution C G downstream_gene_variant BRCA-EU 8 38190236 38190236 single base substitution C G intron_variant BRCA-EU 8 38190350 38190350 single base substitution C T downstream_gene_variant BRCA-EU 8 38190350 38190350 single base substitution C T intron_variant BRCA-EU 8 38190477 38190477 single base substitution C G downstream_gene_variant BRCA-EU 8 38190477 38190477 single base substitution C G intron_variant BRCA-EU 8 38190565 38190565 single base substitution G T downstream_gene_variant BRCA-EU 8 38190565 38190565 single base substitution G T intron_variant BRCA-EU 8 38190898 38190898 single base substitution C A downstream_gene_variant BRCA-EU 8 38190898 38190898 single base substitution C A intron_variant BRCA-EU 8 38191453 38191453 single base substitution G A downstream_gene_variant BRCA-EU 8 38191453 38191453 single base substitution G A intron_variant BRCA-EU 8 38193397 38193397 single base substitution G C downstream_gene_variant BRCA-EU 8 38193397 38193397 single base substitution G C intron_variant BRCA-EU 8 38193511 38193511 single base substitution G T downstream_gene_variant BRCA-EU 8 38193511 38193511 single base substitution G T intron_variant BRCA-EU 8 38194877 38194877 single base substitution A C downstream_gene_variant BRCA-EU 8 38194877 38194877 single base substitution A C missense_variant C286G 856T>G BRCA-EU 8 38194879 38194879 single base substitution G T downstream_gene_variant BRCA-EU 8 38194879 38194879 single base substitution G T missense_variant P285H 854C>A BRCA-EU 8 38195045 38195045 single base substitution T A intron_variant BRCA-EU 8 38195651 38195651 single base substitution C G intron_variant BRCA-EU 8 38196975 38196975 single base substitution C G intron_variant BRCA-EU 8 38200866 38200866 single base substitution G A downstream_gene_variant BRCA-EU 8 38200866 38200866 single base substitution G A intron_variant BRCA-EU 8 38201047 38201047 single base substitution C G downstream_gene_variant BRCA-EU 8 38201047 38201047 single base substitution C G intron_variant BRCA-EU 8 38201165 38201165 single base substitution G A downstream_gene_variant BRCA-EU 8 38201165 38201165 single base substitution G A intron_variant BRCA-EU 8 38203526 38203526 single base substitution T A downstream_gene_variant BRCA-EU 8 38203526 38203526 single base substitution T A intron_variant BRCA-EU 8 38203617 38203617 single base substitution T C downstream_gene_variant BRCA-EU 8 38203617 38203617 single base substitution T C intron_variant BRCA-EU 8 38204480 38204480 single base substitution C G downstream_gene_variant BRCA-EU 8 38204480 38204480 single base substitution C G intron_variant BRCA-EU 8 38205494 38205494 single base substitution G C downstream_gene_variant BRCA-EU 8 38205494 38205494 single base substitution G C missense_variant L66V 196C>G BRCA-EU 8 38205673 38205673 single base substitution G T missense_variant S6Y 17C>A BRCA-EU 8 38206125 38206125 single base substitution C T intron_variant BRCA-EU 8 38206189 38206189 deletion of <=200bp T - intron_variant BRCA-EU 8 38207669 38207669 single base substitution T C intron_variant BRCA-EU 8 38207958 38207958 single base substitution A C intron_variant BRCA-EU 8 38208615 38208615 single base substitution G A intron_variant BRCA-EU 8 38209773 38209773 single base substitution T C intron_variant BRCA-EU 8 38210615 38210615 single base substitution G C intron_variant BRCA-EU 8 38211081 38211081 single base substitution A T intron_variant BRCA-EU 8 38211548 38211548 single base substitution C T intron_variant BRCA-EU 8 38212073 38212073 single base substitution T C intron_variant BRCA-EU 8 38212247 38212247 deletion of <=200bp G - intron_variant BRCA-EU 8 38212626 38212626 single base substitution C T intron_variant BRCA-EU 8 38216685 38216685 insertion of <=200bp - A intron_variant BRCA-EU 8 38218658 38218658 single base substitution C T intron_variant BRCA-EU 8 38218746 38218746 single base substitution A G intron_variant BRCA-EU 8 38219533 38219533 single base substitution G C intron_variant BRCA-EU 8 38219635 38219635 single base substitution G C intron_variant BRCA-EU 8 38219692 38219692 single base substitution G A intron_variant BRCA-EU 8 38219753 38219753 single base substitution G C intron_variant BRCA-EU 8 38219997 38219997 single base substitution T G intron_variant BRCA-EU 8 38220409 38220409 insertion of <=200bp - T intron_variant BRCA-EU 8 38220780 38220780 single base substitution G C intron_variant BRCA-EU 8 38220848 38220848 single base substitution G C intron_variant BRCA-EU 8 38221637 38221637 insertion of <=200bp - A intron_variant BRCA-EU 8 38222218 38222218 single base substitution C G intron_variant BRCA-EU 8 38223954 38223954 single base substitution A T intron_variant BRCA-EU 8 38224497 38224497 single base substitution C A intron_variant BRCA-EU 8 38224906 38224906 single base substitution G T intron_variant BRCA-EU 8 38225355 38225355 single base substitution A G intron_variant BRCA-EU 8 38226643 38226643 single base substitution G T intron_variant BRCA-EU 8 38228465 38228465 insertion of <=200bp - T intron_variant BRCA-EU 8 38228650 38228650 deletion of <=200bp T - intron_variant BRCA-EU 8 38228678 38228678 deletion of <=200bp A - intron_variant BRCA-EU 8 38228678 38228678 insertion of <=200bp - A intron_variant BRCA-EU 8 38229184 38229184 single base substitution C T intron_variant BRCA-EU 8 38229324 38229324 single base substitution A G intron_variant BRCA-EU 8 38229475 38229475 single base substitution C T intron_variant BRCA-EU 8 38231678 38231678 single base substitution A G intron_variant BRCA-EU 8 38232523 38232523 deletion of <=200bp A - intron_variant BRCA-EU 8 38233106 38233106 insertion of <=200bp - A intron_variant BRCA-EU 8 38234519 38234519 single base substitution T A intron_variant BRCA-EU 8 38234854 38234854 single base substitution G C intron_variant BRCA-EU 8 38235448 38235448 single base substitution C G intron_variant BRCA-EU 8 38235449 38235449 insertion of <=200bp - A intron_variant BRCA-EU 8 38236129 38236129 single base substitution C T intron_variant BRCA-EU 8 38236501 38236501 single base substitution T C intron_variant BRCA-EU 8 38236862 38236862 single base substitution T G intron_variant BRCA-EU 8 38237905 38237905 single base substitution A T intron_variant BRCA-EU 8 38238027 38238027 single base substitution A C intron_variant BRCA-EU 8 38238479 38238479 single base substitution C T intron_variant BRCA-EU 8 38238479 38238479 single base substitution C T upstream_gene_variant BRCA-EU 8 38239990 38239990 single base substitution C G upstream_gene_variant BRCA-EU 8 38240444 38240444 single base substitution G A upstream_gene_variant BRCA-EU 8 38241122 38241122 single base substitution T A upstream_gene_variant BRCA-EU 8 38243922 38243922 single base substitution G A upstream_gene_variant BRCA-EU 8 38243997 38243997 single base substitution G A upstream_gene_variant BRCA-FR 8 38137508 38137508 single base substitution G A exon_variant BRCA-FR 8 38137508 38137508 single base substitution G A intron_variant BRCA-FR 8 38137515 38137515 single base substitution G T exon_variant BRCA-FR 8 38137515 38137515 single base substitution G T intron_variant BRCA-FR 8 38137657 38137657 single base substitution G C exon_variant BRCA-FR 8 38137657 38137657 single base substitution G C intron_variant BRCA-FR 8 38137676 38137676 single base substitution G T exon_variant BRCA-FR 8 38137676 38137676 single base substitution G T intron_variant BRCA-FR 8 38137845 38137845 single base substitution G A intron_variant BRCA-FR 8 38137845 38137845 single base substitution G A upstream_gene_variant BRCA-FR 8 38137859 38137859 single base substitution G A intron_variant BRCA-FR 8 38137859 38137859 single base substitution G A upstream_gene_variant BRCA-FR 8 38138007 38138007 single base substitution G A intron_variant BRCA-FR 8 38138007 38138007 single base substitution G A upstream_gene_variant BRCA-FR 8 38138122 38138122 single base substitution G A intron_variant BRCA-FR 8 38138122 38138122 single base substitution G A upstream_gene_variant BRCA-FR 8 38138334 38138334 single base substitution G A intron_variant BRCA-FR 8 38138334 38138334 single base substitution G A upstream_gene_variant BRCA-FR 8 38138602 38138602 single base substitution G A intron_variant BRCA-FR 8 38138602 38138602 single base substitution G A upstream_gene_variant BRCA-FR 8 38138720 38138720 single base substitution G A intron_variant BRCA-FR 8 38138720 38138720 single base substitution G A upstream_gene_variant BRCA-FR 8 38138732 38138732 single base substitution G C intron_variant BRCA-FR 8 38138732 38138732 single base substitution G C upstream_gene_variant BRCA-FR 8 38138888 38138888 single base substitution G A intron_variant BRCA-FR 8 38138888 38138888 single base substitution G A upstream_gene_variant BRCA-FR 8 38138905 38138905 single base substitution G A intron_variant BRCA-FR 8 38138905 38138905 single base substitution G A upstream_gene_variant BRCA-FR 8 38138924 38138924 single base substitution G A intron_variant BRCA-FR 8 38138924 38138924 single base substitution G A upstream_gene_variant BRCA-FR 8 38139225 38139225 single base substitution G C intron_variant BRCA-FR 8 38139225 38139225 single base substitution G C upstream_gene_variant BRCA-FR 8 38139342 38139342 single base substitution G A intron_variant BRCA-FR 8 38139342 38139342 single base substitution G A upstream_gene_variant BRCA-FR 8 38139412 38139412 single base substitution G A intron_variant BRCA-FR 8 38139412 38139412 single base substitution G A upstream_gene_variant BRCA-FR 8 38139482 38139482 single base substitution G A intron_variant BRCA-FR 8 38139482 38139482 single base substitution G A upstream_gene_variant BRCA-FR 8 38139655 38139655 single base substitution G C intron_variant BRCA-FR 8 38139655 38139655 single base substitution G C upstream_gene_variant BRCA-FR 8 38139666 38139666 single base substitution G A intron_variant BRCA-FR 8 38139666 38139666 single base substitution G A upstream_gene_variant BRCA-FR 8 38139760 38139760 single base substitution G A intron_variant BRCA-FR 8 38139760 38139760 single base substitution G A upstream_gene_variant BRCA-FR 8 38140178 38140178 single base substitution G A intron_variant BRCA-FR 8 38140178 38140178 single base substitution G A upstream_gene_variant BRCA-FR 8 38140218 38140218 single base substitution G C intron_variant BRCA-FR 8 38140218 38140218 single base substitution G C upstream_gene_variant BRCA-FR 8 38140237 38140237 single base substitution G A intron_variant BRCA-FR 8 38140237 38140237 single base substitution G A upstream_gene_variant BRCA-FR 8 38140259 38140259 single base substitution G C intron_variant BRCA-FR 8 38140259 38140259 single base substitution G C upstream_gene_variant BRCA-FR 8 38140896 38140896 single base substitution G C intron_variant BRCA-FR 8 38140896 38140896 single base substitution G C upstream_gene_variant BRCA-FR 8 38140982 38140982 single base substitution G A intron_variant BRCA-FR 8 38140982 38140982 single base substitution G A upstream_gene_variant BRCA-FR 8 38153828 38153828 single base substitution A G intron_variant BRCA-FR 8 38154123 38154123 single base substitution C T intron_variant BRCA-FR 8 38155990 38155990 single base substitution G C intron_variant BRCA-FR 8 38156014 38156014 single base substitution G C intron_variant BRCA-FR 8 38165777 38165777 single base substitution T G intron_variant BRCA-FR 8 38166436 38166436 single base substitution G A intron_variant BRCA-FR 8 38167003 38167003 single base substitution T A intron_variant BRCA-FR 8 38167830 38167830 single base substitution C T intron_variant BRCA-FR 8 38171566 38171566 single base substitution C T downstream_gene_variant BRCA-FR 8 38171566 38171566 single base substitution C T intron_variant BRCA-FR 8 38172082 38172082 single base substitution G C downstream_gene_variant BRCA-FR 8 38172082 38172082 single base substitution G C intron_variant BRCA-FR 8 38190565 38190565 single base substitution G T downstream_gene_variant BRCA-FR 8 38190565 38190565 single base substitution G T intron_variant BRCA-FR 8 38220780 38220780 single base substitution G C intron_variant BRCA-FR 8 38220848 38220848 single base substitution G C intron_variant BRCA-FR 8 38226643 38226643 single base substitution G T intron_variant BRCA-FR 8 38238027 38238027 single base substitution A C intron_variant BRCA-KR 8 38125337 38125337 single base substitution G A downstream_gene_variant BRCA-UK 8 38135249 38135249 single base substitution T A intron_variant BRCA-UK 8 38145172 38145172 single base substitution G C downstream_gene_variant BRCA-UK 8 38145172 38145172 single base substitution G C intron_variant BRCA-UK 8 38187285 38187285 single base substitution G T missense_variant Q398K 1192C>A BRCA-UK 8 38187285 38187285 single base substitution G T upstream_gene_variant BRCA-UK 8 38200170 38200170 single base substitution C G intron_variant BRCA-UK 8 38205494 38205494 single base substitution G C downstream_gene_variant BRCA-UK 8 38205494 38205494 single base substitution G C missense_variant L66V 196C>G BRCA-UK 8 38209773 38209773 single base substitution T C intron_variant BRCA-US 8 38124737 38124737 single base substitution C G downstream_gene_variant BRCA-US 8 38146045 38146045 single base substitution C T downstream_gene_variant BRCA-US 8 38146045 38146045 single base substitution C T missense_variant R1105Q 3314G>A BRCA-US 8 38146045 38146045 single base substitution C T missense_variant R1154Q 3461G>A BRCA-US 8 38162118 38162118 single base substitution G A synonymous_variant F866F 2598C>T BRCA-US 8 38162118 38162118 single base substitution G A upstream_gene_variant BRCA-US 8 38162250 38162250 single base substitution A G synonymous_variant C822C 2466T>C BRCA-US 8 38162250 38162250 single base substitution A G upstream_gene_variant BRCA-US 8 38162915 38162915 single base substitution C T missense_variant R764H 2291G>A BRCA-US 8 38172281 38172281 single base substitution C G downstream_gene_variant BRCA-US 8 38172281 38172281 single base substitution C G missense_variant S709T 2126G>C BRCA-US 8 38172997 38172997 single base substitution C T downstream_gene_variant BRCA-US 8 38172997 38172997 single base substitution C T synonymous_variant Q684Q 2052G>A BRCA-US 8 38173007 38173007 single base substitution G A downstream_gene_variant BRCA-US 8 38173007 38173007 single base substitution G A missense_variant S681F 2042C>T BRCA-US 8 38173482 38173482 single base substitution G C downstream_gene_variant BRCA-US 8 38173482 38173482 single base substitution G C stop_gained S645* 1934C>G BRCA-US 8 38174774 38174774 single base substitution G T 3_prime_UTR_variant BRCA-US 8 38174774 38174774 single base substitution G T downstream_gene_variant BRCA-US 8 38174774 38174774 single base substitution G T exon_variant BRCA-US 8 38174774 38174774 single base substitution G T intron_variant BRCA-US 8 38187391 38187391 single base substitution C T synonymous_variant Q362Q 1086G>A BRCA-US 8 38187391 38187391 single base substitution C T upstream_gene_variant BTCA-JP 8 38123581 38123581 single base substitution A C downstream_gene_variant BTCA-JP 8 38133925 38133925 single base substitution C A exon_variant BTCA-JP 8 38133925 38133925 single base substitution C A stop_gained E1272* 3814G>T BTCA-JP 8 38133925 38133925 single base substitution C A stop_gained E1310* 3928G>T BTCA-JP 8 38133925 38133925 single base substitution C A stop_gained E1321* 3961G>T BTCA-JP 8 38184327 38184327 single base substitution A G synonymous_variant L543L 1629T>C BTCA-JP 8 38184327 38184327 single base substitution A G synonymous_variant L9L 27T>C BTCA-JP 8 38187407 38187407 single base substitution C T missense_variant R357Q 1070G>A BTCA-JP 8 38187407 38187407 single base substitution C T upstream_gene_variant BTCA-JP 8 38205145 38205145 single base substitution G C downstream_gene_variant BTCA-JP 8 38205145 38205145 single base substitution G C missense_variant A182G 545C>G CESC-US 8 38124784 38124784 single base substitution C T downstream_gene_variant CESC-US 8 38126363 38126363 single base substitution C T downstream_gene_variant CESC-US 8 38134046 38134046 single base substitution C G intron_variant CESC-US 8 38172265 38172265 single base substitution C T downstream_gene_variant CESC-US 8 38172265 38172265 single base substitution C T synonymous_variant L714L 2142G>A CESC-US 8 38173490 38173490 single base substitution C G downstream_gene_variant CESC-US 8 38173490 38173490 single base substitution C G missense_variant M642I 1926G>C CESC-US 8 38174709 38174709 single base substitution C T 3_prime_UTR_variant CESC-US 8 38174709 38174709 single base substitution C T downstream_gene_variant CESC-US 8 38174709 38174709 single base substitution C T exon_variant CESC-US 8 38174709 38174709 single base substitution C T intron_variant CESC-US 8 38205256 38205256 single base substitution G A downstream_gene_variant CESC-US 8 38205256 38205256 single base substitution G A missense_variant P145L 434C>T CESC-US 8 38205669 38205669 single base substitution G C missense_variant F7L 21C>G CLLE-ES 8 38131228 38131228 single base substitution G C 3_prime_UTR_variant CLLE-ES 8 38131228 38131228 single base substitution G C downstream_gene_variant CLLE-ES 8 38137124 38137124 single base substitution T C exon_variant CLLE-ES 8 38137124 38137124 single base substitution T C missense_variant T1183A 3547A>G CLLE-ES 8 38137124 38137124 single base substitution T C missense_variant T1221A 3661A>G CLLE-ES 8 38137124 38137124 single base substitution T C missense_variant T1232A 3694A>G CLLE-ES 8 38141622 38141622 single base substitution G C intron_variant CLLE-ES 8 38141622 38141622 single base substitution G C upstream_gene_variant CLLE-ES 8 38148364 38148364 single base substitution A G downstream_gene_variant CLLE-ES 8 38148364 38148364 single base substitution A G intron_variant CLLE-ES 8 38148364 38148364 single base substitution A G upstream_gene_variant CLLE-ES 8 38160499 38160499 single base substitution C A intron_variant CLLE-ES 8 38160499 38160499 single base substitution C A upstream_gene_variant CLLE-ES 8 38190114 38190114 single base substitution C A downstream_gene_variant CLLE-ES 8 38190114 38190114 single base substitution C A intron_variant CLLE-ES 8 38196670 38196670 single base substitution C A intron_variant CLLE-ES 8 38229337 38229337 single base substitution T C intron_variant COAD-US 8 38124821 38124821 single base substitution C T downstream_gene_variant COAD-US 8 38125932 38125932 single base substitution A C downstream_gene_variant COAD-US 8 38133164 38133164 single base substitution C A exon_variant COAD-US 8 38133164 38133164 single base substitution C A stop_gained E1388* 4162G>T COAD-US 8 38133164 38133164 single base substitution C A stop_gained E1426* 4276G>T COAD-US 8 38133164 38133164 single base substitution C A stop_gained E1437* 4309G>T COAD-US 8 38133957 38133957 single base substitution C T exon_variant COAD-US 8 38133957 38133957 single base substitution C T missense_variant R1261Q 3782G>A COAD-US 8 38133957 38133957 single base substitution C T missense_variant R1299Q 3896G>A COAD-US 8 38133957 38133957 single base substitution C T missense_variant R1310Q 3929G>A COAD-US 8 38139035 38139035 single base substitution G A stop_gained R1141* 3421C>T COAD-US 8 38139035 38139035 single base substitution G A stop_gained R1190* 3568C>T COAD-US 8 38139035 38139035 single base substitution G A upstream_gene_variant COAD-US 8 38148122 38148122 deletion of <=200bp C - exon_variant COAD-US 8 38148122 38148122 deletion of <=200bp C - frameshift_variant D948 COAD-US 8 38148122 38148122 deletion of <=200bp C - frameshift_variant D997 COAD-US 8 38205575 38205575 single base substitution C T downstream_gene_variant COAD-US 8 38205575 38205575 single base substitution C T missense_variant D39N 115G>A COCA-CN 8 38126359 38126359 single base substitution G C downstream_gene_variant COCA-CN 8 38131326 38131326 single base substitution A C 3_prime_UTR_variant COCA-CN 8 38131326 38131326 single base substitution A C downstream_gene_variant COCA-CN 8 38133958 38133958 single base substitution G A exon_variant COCA-CN 8 38133958 38133958 single base substitution G A stop_gained R1261* 3781C>T COCA-CN 8 38133958 38133958 single base substitution G A stop_gained R1299* 3895C>T COCA-CN 8 38133958 38133958 single base substitution G A stop_gained R1310* 3928C>T COCA-CN 8 38137043 38137043 single base substitution G A intron_variant COCA-CN 8 38147840 38147840 single base substitution C T intron_variant COCA-CN 8 38153571 38153571 single base substitution A T intron_variant COCA-CN 8 38156915 38156915 single base substitution A T intron_variant COCA-CN 8 38161977 38161977 single base substitution G T intron_variant COCA-CN 8 38161977 38161977 single base substitution G T upstream_gene_variant COCA-CN 8 38162739 38162739 single base substitution C A intron_variant COCA-CN 8 38164652 38164652 single base substitution T A intron_variant COCA-CN 8 38164653 38164653 single base substitution A T intron_variant COCA-CN 8 38172413 38172413 single base substitution G A downstream_gene_variant COCA-CN 8 38172413 38172413 single base substitution G A intron_variant COCA-CN 8 38186873 38186873 single base substitution A C intron_variant COCA-CN 8 38186873 38186873 single base substitution A C upstream_gene_variant COCA-CN 8 38204971 38204971 single base substitution A C downstream_gene_variant COCA-CN 8 38204971 38204971 single base substitution A C intron_variant COCA-CN 8 38205132 38205132 single base substitution C T downstream_gene_variant COCA-CN 8 38205132 38205132 single base substitution C T synonymous_variant T186T 558G>A COCA-CN 8 38212990 38212990 single base substitution G C intron_variant COCA-CN 8 38215863 38215863 single base substitution A T intron_variant COCA-CN 8 38216539 38216539 single base substitution A G intron_variant COCA-CN 8 38234783 38234783 single base substitution A G intron_variant COCA-CN 8 38239806 38239806 single base substitution G C upstream_gene_variant COCA-CN 8 38241287 38241287 single base substitution A T upstream_gene_variant EOPC-DE 8 38143079 38143079 single base substitution T A downstream_gene_variant EOPC-DE 8 38143079 38143079 single base substitution T A intron_variant EOPC-DE 8 38143080 38143080 single base substitution A T downstream_gene_variant EOPC-DE 8 38143080 38143080 single base substitution A T intron_variant EOPC-DE 8 38172632 38172632 single base substitution C T downstream_gene_variant EOPC-DE 8 38172632 38172632 single base substitution C T intron_variant ESAD-UK 8 38125001 38125001 single base substitution G A downstream_gene_variant ESAD-UK 8 38125810 38125810 single base substitution G A downstream_gene_variant ESAD-UK 8 38126013 38126013 deletion of <=200bp A - downstream_gene_variant ESAD-UK 8 38127768 38127768 single base substitution T A 3_prime_UTR_variant ESAD-UK 8 38127768 38127768 single base substitution T A downstream_gene_variant ESAD-UK 8 38127863 38127863 single base substitution G A 3_prime_UTR_variant ESAD-UK 8 38127863 38127863 single base substitution G A downstream_gene_variant ESAD-UK 8 38129013 38129013 single base substitution C A 3_prime_UTR_variant ESAD-UK 8 38129013 38129013 single base substitution C A downstream_gene_variant ESAD-UK 8 38130510 38130510 single base substitution C A 3_prime_UTR_variant ESAD-UK 8 38130510 38130510 single base substitution C A downstream_gene_variant ESAD-UK 8 38130870 38130870 single base substitution A T 3_prime_UTR_variant ESAD-UK 8 38130870 38130870 single base substitution A T downstream_gene_variant ESAD-UK 8 38131467 38131467 deletion of <=200bp A - 3_prime_UTR_variant ESAD-UK 8 38131467 38131467 deletion of <=200bp A - downstream_gene_variant ESAD-UK 8 38136876 38136876 single base substitution C T intron_variant ESAD-UK 8 38141503 38141503 single base substitution C T intron_variant ESAD-UK 8 38141503 38141503 single base substitution C T upstream_gene_variant ESAD-UK 8 38142551 38142551 insertion of <=200bp - A downstream_gene_variant ESAD-UK 8 38142551 38142551 insertion of <=200bp - A intron_variant ESAD-UK 8 38142551 38142551 insertion of <=200bp - A upstream_gene_variant ESAD-UK 8 38143513 38143513 single base substitution T C downstream_gene_variant ESAD-UK 8 38143513 38143513 single base substitution T C intron_variant ESAD-UK 8 38144484 38144484 single base substitution C T downstream_gene_variant ESAD-UK 8 38144484 38144484 single base substitution C T intron_variant ESAD-UK 8 38145769 38145769 single base substitution T C downstream_gene_variant ESAD-UK 8 38145769 38145769 single base substitution T C intron_variant ESAD-UK 8 38146051 38146051 single base substitution G A downstream_gene_variant ESAD-UK 8 38146051 38146051 single base substitution G A missense_variant T1103M 3308C>T ESAD-UK 8 38146051 38146051 single base substitution G A missense_variant T1152M 3455C>T ESAD-UK 8 38146290 38146290 single base substitution G A downstream_gene_variant ESAD-UK 8 38146290 38146290 single base substitution G A intron_variant ESAD-UK 8 38148290 38148290 single base substitution T A intron_variant ESAD-UK 8 38148290 38148290 single base substitution T A upstream_gene_variant ESAD-UK 8 38149098 38149098 insertion of <=200bp - CT downstream_gene_variant ESAD-UK 8 38149098 38149098 insertion of <=200bp - CT intron_variant ESAD-UK 8 38149098 38149098 insertion of <=200bp - CT upstream_gene_variant ESAD-UK 8 38152083 38152083 single base substitution C A downstream_gene_variant ESAD-UK 8 38152083 38152083 single base substitution C A intron_variant ESAD-UK 8 38152083 38152083 single base substitution C A upstream_gene_variant ESAD-UK 8 38159060 38159060 single base substitution T G intron_variant ESAD-UK 8 38159060 38159060 single base substitution T G upstream_gene_variant ESAD-UK 8 38160456 38160456 single base substitution A C intron_variant ESAD-UK 8 38160456 38160456 single base substitution A C upstream_gene_variant ESAD-UK 8 38165141 38165141 insertion of <=200bp - A intron_variant ESAD-UK 8 38167159 38167159 insertion of <=200bp - A intron_variant ESAD-UK 8 38168328 38168328 single base substitution C T intron_variant ESAD-UK 8 38169778 38169778 single base substitution A T downstream_gene_variant ESAD-UK 8 38169778 38169778 single base substitution A T intron_variant ESAD-UK 8 38171743 38171743 single base substitution T A downstream_gene_variant ESAD-UK 8 38171743 38171743 single base substitution T A intron_variant ESAD-UK 8 38173011 38173011 single base substitution C T downstream_gene_variant ESAD-UK 8 38173011 38173011 single base substitution C T missense_variant V680I 2038G>A ESAD-UK 8 38174106 38174106 single base substitution G C 3_prime_UTR_variant ESAD-UK 8 38174106 38174106 single base substitution G C downstream_gene_variant ESAD-UK 8 38174106 38174106 single base substitution G C intron_variant ESAD-UK 8 38174184 38174184 single base substitution G T 3_prime_UTR_variant ESAD-UK 8 38174184 38174184 single base substitution G T downstream_gene_variant ESAD-UK 8 38174184 38174184 single base substitution G T intron_variant ESAD-UK 8 38178975 38178975 single base substitution C T intron_variant ESAD-UK 8 38178975 38178975 single base substitution C T upstream_gene_variant ESAD-UK 8 38180271 38180271 single base substitution A C intron_variant ESAD-UK 8 38180271 38180271 single base substitution A C upstream_gene_variant ESAD-UK 8 38183393 38183393 single base substitution C T intron_variant ESAD-UK 8 38184460 38184460 single base substitution G T intron_variant ESAD-UK 8 38184460 38184460 single base substitution G T upstream_gene_variant ESAD-UK 8 38185447 38185447 single base substitution C A intron_variant ESAD-UK 8 38185447 38185447 single base substitution C A upstream_gene_variant ESAD-UK 8 38185448 38185448 single base substitution C A intron_variant ESAD-UK 8 38185448 38185448 single base substitution C A upstream_gene_variant ESAD-UK 8 38187086 38187086 single base substitution G A missense_variant P464L 1391C>T ESAD-UK 8 38187086 38187086 single base substitution G A upstream_gene_variant ESAD-UK 8 38188564 38188564 single base substitution C T intron_variant ESAD-UK 8 38188564 38188564 single base substitution C T upstream_gene_variant ESAD-UK 8 38189564 38189564 single base substitution C A intron_variant ESAD-UK 8 38190342 38190342 single base substitution A G downstream_gene_variant ESAD-UK 8 38190342 38190342 single base substitution A G intron_variant ESAD-UK 8 38190526 38190527 deletion of <=200bp TT - downstream_gene_variant ESAD-UK 8 38190526 38190527 deletion of <=200bp TT - intron_variant ESAD-UK 8 38190529 38190530 deletion of <=200bp GT - downstream_gene_variant ESAD-UK 8 38190529 38190530 deletion of <=200bp GT - intron_variant ESAD-UK 8 38191112 38191112 single base substitution G A downstream_gene_variant ESAD-UK 8 38191112 38191112 single base substitution G A intron_variant ESAD-UK 8 38192596 38192596 single base substitution C A downstream_gene_variant ESAD-UK 8 38192596 38192596 single base substitution C A intron_variant ESAD-UK 8 38194035 38194035 deletion of <=200bp A - downstream_gene_variant ESAD-UK 8 38194035 38194035 deletion of <=200bp A - intron_variant ESAD-UK 8 38196355 38196355 single base substitution T C intron_variant ESAD-UK 8 38197071 38197071 single base substitution C T intron_variant ESAD-UK 8 38197251 38197251 single base substitution A C intron_variant ESAD-UK 8 38197925 38197925 single base substitution G A intron_variant ESAD-UK 8 38198571 38198571 single base substitution C T intron_variant ESAD-UK 8 38202336 38202336 single base substitution C T downstream_gene_variant ESAD-UK 8 38202336 38202336 single base substitution C T intron_variant ESAD-UK 8 38203882 38203882 single base substitution T A downstream_gene_variant ESAD-UK 8 38203882 38203882 single base substitution T A intron_variant ESAD-UK 8 38205878 38205878 single base substitution T G intron_variant ESAD-UK 8 38207979 38207979 single base substitution T C intron_variant ESAD-UK 8 38208314 38208314 single base substitution C T intron_variant ESAD-UK 8 38211718 38211718 single base substitution C T intron_variant ESAD-UK 8 38213789 38213789 insertion of <=200bp - A intron_variant ESAD-UK 8 38214958 38214958 single base substitution G C intron_variant ESAD-UK 8 38215583 38215583 insertion of <=200bp - A intron_variant ESAD-UK 8 38215602 38215602 insertion of <=200bp - TA intron_variant ESAD-UK 8 38216076 38216076 single base substitution T A intron_variant ESAD-UK 8 38216708 38216708 single base substitution A G intron_variant ESAD-UK 8 38217764 38217764 single base substitution T G intron_variant ESAD-UK 8 38221646 38221646 single base substitution T A intron_variant ESAD-UK 8 38224703 38224703 single base substitution G A intron_variant ESAD-UK 8 38225091 38225091 single base substitution G A intron_variant ESAD-UK 8 38225992 38225992 single base substitution A G intron_variant ESAD-UK 8 38227999 38227999 single base substitution A G intron_variant ESAD-UK 8 38228944 38228944 single base substitution T C intron_variant ESAD-UK 8 38232943 38232943 single base substitution G A intron_variant ESAD-UK 8 38233106 38233106 deletion of <=200bp A - intron_variant ESAD-UK 8 38233329 38233329 single base substitution T A intron_variant ESAD-UK 8 38235469 38235469 insertion of <=200bp - AAAAAGC intron_variant ESAD-UK 8 38235817 38235817 single base substitution T C intron_variant ESAD-UK 8 38235899 38235899 single base substitution C G intron_variant ESAD-UK 8 38242755 38242755 single base substitution C T upstream_gene_variant ESCA-CN 8 38138964 38138964 deletion of <=200bp A - intron_variant ESCA-CN 8 38138964 38138964 deletion of <=200bp A - upstream_gene_variant ESCA-CN 8 38146045 38146045 single base substitution C T downstream_gene_variant ESCA-CN 8 38146045 38146045 single base substitution C T missense_variant R1105Q 3314G>A ESCA-CN 8 38146045 38146045 single base substitution C T missense_variant R1154Q 3461G>A ESCA-CN 8 38162868 38162868 single base substitution G A missense_variant R780C 2338C>T ESCA-CN 8 38239106 38239106 single base substitution A C intron_variant ESCA-CN 8 38239106 38239106 single base substitution A C splice_donor_variant ESCA-CN 8 38239106 38239106 single base substitution A C upstream_gene_variant GBM-US 8 38148069 38148069 single base substitution G A exon_variant GBM-US 8 38148069 38148069 single base substitution G A synonymous_variant G1014G 3042C>T GBM-US 8 38148069 38148069 single base substitution G A synonymous_variant G965G 2895C>T KIRC-US 8 38125965 38125965 single base substitution G C downstream_gene_variant KIRC-US 8 38135924 38135924 single base substitution T G exon_variant KIRC-US 8 38135924 38135924 single base substitution T G missense_variant E1207A 3620A>C KIRC-US 8 38135924 38135924 single base substitution T G missense_variant E1245A 3734A>C KIRC-US 8 38135924 38135924 single base substitution T G missense_variant E1256A 3767A>C KIRC-US 8 38139060 38139060 deletion of <=200bp T - frameshift_variant E1132 KIRC-US 8 38139060 38139060 deletion of <=200bp T - frameshift_variant E1181 KIRC-US 8 38139060 38139060 deletion of <=200bp T - upstream_gene_variant KIRC-US 8 38173525 38173525 single base substitution T C downstream_gene_variant KIRC-US 8 38173525 38173525 single base substitution T C missense_variant K631E 1891A>G KIRC-US 8 38189086 38189086 single base substitution C A missense_variant V310F 928G>T KIRC-US 8 38189086 38189086 single base substitution C A upstream_gene_variant KIRC-US 8 38205403 38205403 single base substitution G T downstream_gene_variant KIRC-US 8 38205403 38205403 single base substitution G T stop_gained S96* 287C>A KIRP-US 8 38162890 38162890 single base substitution T C synonymous_variant K772K 2316A>G LAML-KR 8 38207366 38207366 single base substitution A C intron_variant LICA-CN 8 38194891 38194891 single base substitution T A missense_variant Y281F 842A>T LICA-FR 8 38147612 38147612 single base substitution T C intron_variant LICA-FR 8 38147628 38147628 single base substitution G C intron_variant LICA-FR 8 38176425 38176425 single base substitution C T downstream_gene_variant LICA-FR 8 38176425 38176425 single base substitution C T exon_variant LICA-FR 8 38176425 38176425 single base substitution C T missense_variant G615R 1843G>A LICA-FR 8 38188210 38188210 single base substitution C G intron_variant LICA-FR 8 38188210 38188210 single base substitution C G upstream_gene_variant LICA-FR 8 38194933 38194933 single base substitution T G missense_variant K267T 800A>C LIHC-US 8 38133282 38133282 single base substitution A T exon_variant LIHC-US 8 38133282 38133282 single base substitution A T synonymous_variant S1348S 4044T>A LIHC-US 8 38133282 38133282 single base substitution A T synonymous_variant S1386S 4158T>A LIHC-US 8 38133282 38133282 single base substitution A T synonymous_variant S1397S 4191T>A LIHC-US 8 38178646 38178646 single base substitution A G missense_variant S51P 151T>C LIHC-US 8 38178646 38178646 single base substitution A G missense_variant S585P 1753T>C LIHC-US 8 38178646 38178646 single base substitution A G upstream_gene_variant LINC-JP 8 38126631 38126631 single base substitution G C downstream_gene_variant LINC-JP 8 38133301 38133301 single base substitution T C exon_variant LINC-JP 8 38133301 38133301 single base substitution T C missense_variant K1342R 4025A>G LINC-JP 8 38133301 38133301 single base substitution T C missense_variant K1380R 4139A>G LINC-JP 8 38133301 38133301 single base substitution T C missense_variant K1391R 4172A>G LINC-JP 8 38146203 38146203 single base substitution C A downstream_gene_variant LINC-JP 8 38146203 38146203 single base substitution C A missense_variant K1052N 3156G>T LINC-JP 8 38146203 38146203 single base substitution C A missense_variant K1101N 3303G>T LINC-JP 8 38146211 38146215 deletion of <=200bp TACAG - downstream_gene_variant LINC-JP 8 38146211 38146215 deletion of <=200bp TACAG - frameshift_variant RCN1048 LINC-JP 8 38146211 38146215 deletion of <=200bp TACAG - frameshift_variant RCN1097 LINC-JP 8 38154737 38154737 single base substitution T C intron_variant LINC-JP 8 38162135 38162135 single base substitution T C missense_variant N861D 2581A>G LINC-JP 8 38162135 38162135 single base substitution T C upstream_gene_variant LINC-JP 8 38162327 38162327 single base substitution A C intron_variant LINC-JP 8 38163062 38163062 single base substitution T A intron_variant LINC-JP 8 38164643 38164643 single base substitution A T intron_variant LINC-JP 8 38167991 38167991 single base substitution C T intron_variant LINC-JP 8 38168127 38168127 single base substitution G T intron_variant LINC-JP 8 38169935 38169935 single base substitution G C downstream_gene_variant LINC-JP 8 38169935 38169935 single base substitution G C intron_variant LINC-JP 8 38171048 38171048 deletion of <=200bp A - downstream_gene_variant LINC-JP 8 38171048 38171048 deletion of <=200bp A - intron_variant LINC-JP 8 38171508 38171508 single base substitution A G downstream_gene_variant LINC-JP 8 38171508 38171508 single base substitution A G intron_variant LINC-JP 8 38173251 38173251 single base substitution T G downstream_gene_variant LINC-JP 8 38173251 38173251 single base substitution T G intron_variant LINC-JP 8 38178121 38178121 single base substitution A G 3_prime_UTR_variant LINC-JP 8 38178121 38178121 single base substitution A G intron_variant LINC-JP 8 38178121 38178121 single base substitution A G upstream_gene_variant LINC-JP 8 38183800 38183800 single base substitution A C intron_variant LINC-JP 8 38187476 38187476 single base substitution A T intron_variant LINC-JP 8 38187476 38187476 single base substitution A T upstream_gene_variant LINC-JP 8 38189037 38189037 single base substitution C G missense_variant R326P 977G>C LINC-JP 8 38189037 38189037 single base substitution C G upstream_gene_variant LINC-JP 8 38192287 38192287 single base substitution C A downstream_gene_variant LINC-JP 8 38192287 38192287 single base substitution C A intron_variant LINC-JP 8 38196196 38196196 single base substitution T C intron_variant LINC-JP 8 38199018 38199018 single base substitution T C intron_variant LINC-JP 8 38203207 38203207 single base substitution T C downstream_gene_variant LINC-JP 8 38203207 38203207 single base substitution T C intron_variant LINC-JP 8 38218659 38218659 single base substitution G A intron_variant LINC-JP 8 38224316 38224316 single base substitution T C intron_variant LINC-JP 8 38241115 38241115 deletion of <=200bp T - upstream_gene_variant LIRI-JP 8 38122282 38122282 single base substitution C G downstream_gene_variant LIRI-JP 8 38122460 38122460 single base substitution A C downstream_gene_variant LIRI-JP 8 38122867 38122867 single base substitution G A downstream_gene_variant LIRI-JP 8 38125143 38125143 single base substitution A G downstream_gene_variant LIRI-JP 8 38125261 38125261 single base substitution G T downstream_gene_variant LIRI-JP 8 38125471 38125471 single base substitution G A downstream_gene_variant LIRI-JP 8 38125637 38125637 single base substitution C T downstream_gene_variant LIRI-JP 8 38126079 38126079 single base substitution A G downstream_gene_variant LIRI-JP 8 38126188 38126188 single base substitution C T downstream_gene_variant LIRI-JP 8 38128987 38128987 single base substitution G A 3_prime_UTR_variant LIRI-JP 8 38128987 38128987 single base substitution G A downstream_gene_variant LIRI-JP 8 38130273 38130273 single base substitution T C 3_prime_UTR_variant LIRI-JP 8 38130273 38130273 single base substitution T C downstream_gene_variant LIRI-JP 8 38138011 38138011 single base substitution T C intron_variant LIRI-JP 8 38138011 38138011 single base substitution T C upstream_gene_variant LIRI-JP 8 38138057 38138057 single base substitution T C intron_variant LIRI-JP 8 38138057 38138057 single base substitution T C upstream_gene_variant LIRI-JP 8 38138120 38138120 single base substitution T C intron_variant LIRI-JP 8 38138120 38138120 single base substitution T C upstream_gene_variant LIRI-JP 8 38138126 38138126 single base substitution T A intron_variant LIRI-JP 8 38138126 38138126 single base substitution T A upstream_gene_variant LIRI-JP 8 38138132 38138132 single base substitution T G intron_variant LIRI-JP 8 38138132 38138132 single base substitution T G upstream_gene_variant LIRI-JP 8 38138886 38138890 deletion of <=200bp AAGAA - intron_variant LIRI-JP 8 38138886 38138890 deletion of <=200bp AAGAA - upstream_gene_variant LIRI-JP 8 38139232 38139235 deletion of <=200bp TTAT - intron_variant LIRI-JP 8 38139232 38139235 deletion of <=200bp TTAT - upstream_gene_variant LIRI-JP 8 38141891 38141891 single base substitution T C intron_variant LIRI-JP 8 38141891 38141891 single base substitution T C upstream_gene_variant LIRI-JP 8 38149476 38149476 single base substitution A T downstream_gene_variant LIRI-JP 8 38149476 38149476 single base substitution A T intron_variant LIRI-JP 8 38149476 38149476 single base substitution A T upstream_gene_variant LIRI-JP 8 38150864 38150864 single base substitution T C downstream_gene_variant LIRI-JP 8 38150864 38150864 single base substitution T C intron_variant LIRI-JP 8 38150864 38150864 single base substitution T C upstream_gene_variant LIRI-JP 8 38158403 38158403 single base substitution T C intron_variant LIRI-JP 8 38158403 38158403 single base substitution T C upstream_gene_variant LIRI-JP 8 38162892 38162892 single base substitution T C missense_variant K772E 2314A>G LIRI-JP 8 38172071 38172071 single base substitution G T downstream_gene_variant LIRI-JP 8 38172071 38172071 single base substitution G T intron_variant LIRI-JP 8 38172318 38172318 single base substitution C T downstream_gene_variant LIRI-JP 8 38172318 38172318 single base substitution C T intron_variant LIRI-JP 8 38172369 38172369 single base substitution T C downstream_gene_variant LIRI-JP 8 38172369 38172369 single base substitution T C intron_variant LIRI-JP 8 38177727 38177727 single base substitution G T 3_prime_UTR_variant LIRI-JP 8 38177727 38177727 single base substitution G T intron_variant LIRI-JP 8 38177727 38177727 single base substitution G T upstream_gene_variant LIRI-JP 8 38182319 38182319 single base substitution G T intron_variant LIRI-JP 8 38183745 38183745 single base substitution G A intron_variant LIRI-JP 8 38184362 38184362 single base substitution T A stop_gained K532* 1594A>T LIRI-JP 8 38184362 38184362 single base substitution T A upstream_gene_variant LIRI-JP 8 38184766 38184766 single base substitution G T intron_variant LIRI-JP 8 38184766 38184766 single base substitution G T upstream_gene_variant LIRI-JP 8 38185246 38185246 single base substitution C G intron_variant LIRI-JP 8 38185246 38185246 single base substitution C G upstream_gene_variant LIRI-JP 8 38185613 38185613 single base substitution G C intron_variant LIRI-JP 8 38185613 38185613 single base substitution G C upstream_gene_variant LIRI-JP 8 38188762 38188762 single base substitution T C intron_variant LIRI-JP 8 38188762 38188762 single base substitution T C upstream_gene_variant LIRI-JP 8 38194895 38194895 single base substitution T A missense_variant T280S 838A>T LIRI-JP 8 38196652 38196652 single base substitution T C intron_variant LIRI-JP 8 38201019 38201019 single base substitution G A downstream_gene_variant LIRI-JP 8 38201019 38201019 single base substitution G A intron_variant LIRI-JP 8 38201724 38201724 single base substitution G A downstream_gene_variant LIRI-JP 8 38201724 38201724 single base substitution G A intron_variant LIRI-JP 8 38202147 38202147 single base substitution C T downstream_gene_variant LIRI-JP 8 38202147 38202147 single base substitution C T intron_variant LIRI-JP 8 38202636 38202636 single base substitution C A downstream_gene_variant LIRI-JP 8 38202636 38202636 single base substitution C A intron_variant LIRI-JP 8 38205831 38205831 single base substitution A G intron_variant LIRI-JP 8 38207215 38207215 single base substitution T A intron_variant LIRI-JP 8 38211471 38211471 single base substitution T A intron_variant LIRI-JP 8 38212890 38212890 single base substitution T C intron_variant LIRI-JP 8 38214335 38214335 single base substitution T C intron_variant LIRI-JP 8 38215676 38215676 single base substitution T C intron_variant LIRI-JP 8 38221963 38221963 single base substitution T A intron_variant LIRI-JP 8 38222050 38222050 single base substitution T C intron_variant LIRI-JP 8 38222518 38222518 single base substitution C T intron_variant LIRI-JP 8 38222941 38222941 single base substitution G A intron_variant LIRI-JP 8 38223141 38223141 single base substitution C A intron_variant LIRI-JP 8 38229793 38229793 single base substitution A C intron_variant LIRI-JP 8 38231409 38231409 single base substitution A T intron_variant LIRI-JP 8 38236339 38236339 single base substitution C A intron_variant LIRI-JP 8 38236534 38236534 single base substitution A G intron_variant LIRI-JP 8 38237972 38237972 single base substitution G A intron_variant LIRI-JP 8 38240615 38240615 single base substitution C T upstream_gene_variant LIRI-JP 8 38243972 38243972 single base substitution G C upstream_gene_variant LUSC-KR 8 38130227 38130227 single base substitution T C 3_prime_UTR_variant LUSC-KR 8 38130227 38130227 single base substitution T C downstream_gene_variant LUSC-KR 8 38133147 38133147 single base substitution G T 3_prime_UTR_variant LUSC-KR 8 38133147 38133147 single base substitution G T exon_variant LUSC-KR 8 38136044 38136044 single base substitution C A intron_variant LUSC-KR 8 38140372 38140372 single base substitution T C intron_variant LUSC-KR 8 38140372 38140372 single base substitution T C upstream_gene_variant LUSC-KR 8 38141680 38141680 single base substitution T C intron_variant LUSC-KR 8 38141680 38141680 single base substitution T C upstream_gene_variant LUSC-KR 8 38147360 38147360 single base substitution C T intron_variant LUSC-KR 8 38149756 38149756 single base substitution C G downstream_gene_variant LUSC-KR 8 38149756 38149756 single base substitution C G intron_variant LUSC-KR 8 38149756 38149756 single base substitution C G upstream_gene_variant LUSC-KR 8 38153571 38153571 single base substitution A T intron_variant LUSC-KR 8 38157214 38157214 single base substitution G A exon_variant LUSC-KR 8 38157214 38157214 single base substitution G A intron_variant LUSC-KR 8 38157677 38157677 single base substitution T C intron_variant LUSC-KR 8 38157677 38157677 single base substitution T C upstream_gene_variant LUSC-KR 8 38176961 38176961 single base substitution T C downstream_gene_variant LUSC-KR 8 38176961 38176961 single base substitution T C intron_variant LUSC-KR 8 38176961 38176961 single base substitution T C upstream_gene_variant LUSC-KR 8 38178552 38178552 single base substitution A C 3_prime_UTR_variant LUSC-KR 8 38178552 38178552 single base substitution A C intron_variant LUSC-KR 8 38178552 38178552 single base substitution A C upstream_gene_variant LUSC-KR 8 38179510 38179510 single base substitution G T intron_variant LUSC-KR 8 38179510 38179510 single base substitution G T upstream_gene_variant LUSC-KR 8 38185274 38185274 single base substitution C A intron_variant LUSC-KR 8 38185274 38185274 single base substitution C A upstream_gene_variant LUSC-KR 8 38190608 38190608 single base substitution C G downstream_gene_variant LUSC-KR 8 38190608 38190608 single base substitution C G intron_variant LUSC-KR 8 38191450 38191450 single base substitution T C downstream_gene_variant LUSC-KR 8 38191450 38191450 single base substitution T C intron_variant LUSC-KR 8 38191793 38191793 single base substitution A C downstream_gene_variant LUSC-KR 8 38191793 38191793 single base substitution A C intron_variant LUSC-KR 8 38194255 38194255 single base substitution T C downstream_gene_variant LUSC-KR 8 38194255 38194255 single base substitution T C intron_variant LUSC-KR 8 38201511 38201511 single base substitution C A downstream_gene_variant LUSC-KR 8 38201511 38201511 single base substitution C A intron_variant LUSC-KR 8 38201913 38201913 single base substitution C A downstream_gene_variant LUSC-KR 8 38201913 38201913 single base substitution C A intron_variant LUSC-KR 8 38202306 38202306 single base substitution T C downstream_gene_variant LUSC-KR 8 38202306 38202306 single base substitution T C intron_variant LUSC-KR 8 38207366 38207366 single base substitution A C intron_variant LUSC-KR 8 38214967 38214967 single base substitution C G intron_variant LUSC-KR 8 38215660 38215660 single base substitution C G intron_variant LUSC-KR 8 38216325 38216325 single base substitution C T intron_variant LUSC-KR 8 38216581 38216581 single base substitution C G intron_variant LUSC-KR 8 38217354 38217354 single base substitution C G intron_variant LUSC-KR 8 38217534 38217534 single base substitution G T intron_variant LUSC-KR 8 38225067 38225067 single base substitution C T intron_variant LUSC-KR 8 38232165 38232165 single base substitution C G intron_variant LUSC-KR 8 38237711 38237711 single base substitution A T intron_variant LUSC-KR 8 38241742 38241742 single base substitution C T upstream_gene_variant LUSC-US 8 38133958 38133958 single base substitution G A exon_variant LUSC-US 8 38133958 38133958 single base substitution G A stop_gained R1261* 3781C>T LUSC-US 8 38133958 38133958 single base substitution G A stop_gained R1299* 3895C>T LUSC-US 8 38133958 38133958 single base substitution G A stop_gained R1310* 3928C>T LUSC-US 8 38146064 38146064 single base substitution C T downstream_gene_variant LUSC-US 8 38146064 38146064 single base substitution C T missense_variant E1099K 3295G>A LUSC-US 8 38146064 38146064 single base substitution C T missense_variant E1148K 3442G>A LUSC-US 8 38146112 38146112 single base substitution C T downstream_gene_variant LUSC-US 8 38146112 38146112 single base substitution C T missense_variant D1083N 3247G>A LUSC-US 8 38146112 38146112 single base substitution C T missense_variant D1132N 3394G>A LUSC-US 8 38146142 38146142 single base substitution C T downstream_gene_variant LUSC-US 8 38146142 38146142 single base substitution C T missense_variant E1073K 3217G>A LUSC-US 8 38146142 38146142 single base substitution C T missense_variant E1122K 3364G>A LUSC-US 8 38146156 38146156 single base substitution C T downstream_gene_variant LUSC-US 8 38146156 38146156 single base substitution C T missense_variant R1068K 3203G>A LUSC-US 8 38146156 38146156 single base substitution C T missense_variant R1117K 3350G>A LUSC-US 8 38153399 38153399 single base substitution C T exon_variant LUSC-US 8 38153399 38153399 single base substitution C T missense_variant E895K 2683G>A LUSC-US 8 38153399 38153399 single base substitution C T missense_variant E944K 2830G>A LUSC-US 8 38157060 38157060 single base substitution T C exon_variant LUSC-US 8 38157060 38157060 single base substitution T C intron_variant LUSC-US 8 38157060 38157060 single base substitution T C missense_variant Y887C 2660A>G LUSC-US 8 38162108 38162108 single base substitution T A stop_gained R870* 2608A>T LUSC-US 8 38162108 38162108 single base substitution T A upstream_gene_variant LUSC-US 8 38162894 38162894 single base substitution C A missense_variant G771V 2312G>T LUSC-US 8 38173512 38173512 single base substitution C T downstream_gene_variant LUSC-US 8 38173512 38173512 single base substitution C T missense_variant R635H 1904G>A LUSC-US 8 38186925 38186925 single base substitution A G missense_variant F518L 1552T>C LUSC-US 8 38186925 38186925 single base substitution A G upstream_gene_variant LUSC-US 8 38187141 38187141 single base substitution C G missense_variant E446Q 1336G>C LUSC-US 8 38187141 38187141 single base substitution C G upstream_gene_variant LUSC-US 8 38187168 38187168 single base substitution C G missense_variant E437Q 1309G>C LUSC-US 8 38187168 38187168 single base substitution C G upstream_gene_variant LUSC-US 8 38187351 38187351 single base substitution C T missense_variant E376K 1126G>A LUSC-US 8 38187351 38187351 single base substitution C T upstream_gene_variant LUSC-US 8 38189054 38189054 single base substitution C A synonymous_variant A320A 960G>T LUSC-US 8 38189054 38189054 single base substitution C A upstream_gene_variant LUSC-US 8 38205569 38205569 single base substitution C T downstream_gene_variant LUSC-US 8 38205569 38205569 single base substitution C T missense_variant A41T 121G>A LUSC-US 8 38205604 38205604 single base substitution C T downstream_gene_variant LUSC-US 8 38205604 38205604 single base substitution C T missense_variant R29H 86G>A MALY-DE 8 38125479 38125479 single base substitution C G downstream_gene_variant MALY-DE 8 38126978 38126978 single base substitution C G downstream_gene_variant MALY-DE 8 38148384 38148384 single base substitution G T downstream_gene_variant MALY-DE 8 38148384 38148384 single base substitution G T intron_variant MALY-DE 8 38148384 38148384 single base substitution G T upstream_gene_variant MALY-DE 8 38156879 38156879 single base substitution G A intron_variant MALY-DE 8 38158055 38158055 single base substitution T C intron_variant MALY-DE 8 38158055 38158055 single base substitution T C upstream_gene_variant MALY-DE 8 38162951 38162951 single base substitution C A missense_variant C752F 2255G>T MALY-DE 8 38167794 38167794 single base substitution A G intron_variant MALY-DE 8 38176259 38176260 deletion of <=200bp CA - downstream_gene_variant MALY-DE 8 38176259 38176260 deletion of <=200bp CA - intron_variant MALY-DE 8 38181416 38181416 single base substitution T A intron_variant MALY-DE 8 38181416 38181416 single base substitution T A upstream_gene_variant MALY-DE 8 38182280 38182280 insertion of <=200bp - C intron_variant MALY-DE 8 38186025 38186025 single base substitution A C intron_variant MALY-DE 8 38186025 38186025 single base substitution A C upstream_gene_variant MALY-DE 8 38199718 38199718 single base substitution C A intron_variant MALY-DE 8 38200779 38200779 single base substitution T C downstream_gene_variant MALY-DE 8 38200779 38200779 single base substitution T C intron_variant MALY-DE 8 38210707 38210707 insertion of <=200bp - A intron_variant MALY-DE 8 38212247 38212247 insertion of <=200bp - G intron_variant MALY-DE 8 38216391 38216391 single base substitution T G intron_variant MALY-DE 8 38216392 38216392 single base substitution T A intron_variant MALY-DE 8 38219593 38219593 single base substitution A G intron_variant MALY-DE 8 38220485 38220485 single base substitution A C intron_variant MALY-DE 8 38227382 38227382 single base substitution A C intron_variant MALY-DE 8 38227877 38227877 single base substitution A G intron_variant MALY-DE 8 38236770 38236770 single base substitution C A intron_variant MALY-DE 8 38237473 38237473 single base substitution A T intron_variant MALY-DE 8 38239640 38239640 single base substitution C T 5_prime_UTR_variant MALY-DE 8 38239640 38239640 single base substitution C T upstream_gene_variant MALY-DE 8 38240839 38240839 single base substitution T A upstream_gene_variant MALY-DE 8 38242604 38242604 single base substitution A C upstream_gene_variant MELA-AU 8 38124821 38124821 single base substitution C T downstream_gene_variant MELA-AU 8 38125650 38125650 single base substitution T A downstream_gene_variant MELA-AU 8 38126222 38126222 single base substitution A C downstream_gene_variant MELA-AU 8 38127279 38127279 single base substitution G A 3_prime_UTR_variant MELA-AU 8 38128367 38128368 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 8 38128367 38128368 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 8 38128615 38128615 single base substitution G A 3_prime_UTR_variant MELA-AU 8 38128615 38128615 single base substitution G A downstream_gene_variant MELA-AU 8 38128805 38128805 single base substitution G A 3_prime_UTR_variant MELA-AU 8 38128805 38128805 single base substitution G A downstream_gene_variant MELA-AU 8 38129395 38129395 single base substitution G A 3_prime_UTR_variant MELA-AU 8 38129395 38129395 single base substitution G A downstream_gene_variant MELA-AU 8 38130022 38130022 single base substitution C T 3_prime_UTR_variant MELA-AU 8 38130022 38130022 single base substitution C T downstream_gene_variant MELA-AU 8 38131559 38131559 single base substitution A G 3_prime_UTR_variant MELA-AU 8 38131559 38131559 single base substitution A G downstream_gene_variant MELA-AU 8 38132047 38132047 deletion of <=200bp C - 3_prime_UTR_variant MELA-AU 8 38132047 38132047 deletion of <=200bp C - downstream_gene_variant MELA-AU 8 38133817 38133817 single base substitution A G exon_variant MELA-AU 8 38133817 38133817 single base substitution A G missense_variant Y1308H 3922T>C MELA-AU 8 38133817 38133817 single base substitution A G missense_variant Y1346H 4036T>C MELA-AU 8 38133817 38133817 single base substitution A G missense_variant Y1357H 4069T>C MELA-AU 8 38134569 38134569 single base substitution C T intron_variant MELA-AU 8 38137000 38137000 single base substitution C T intron_variant MELA-AU 8 38137875 38137875 single base substitution G T intron_variant MELA-AU 8 38137875 38137875 single base substitution G T upstream_gene_variant MELA-AU 8 38139355 38139355 single base substitution G A intron_variant MELA-AU 8 38139355 38139355 single base substitution G A upstream_gene_variant MELA-AU 8 38139558 38139558 single base substitution G A intron_variant MELA-AU 8 38139558 38139558 single base substitution G A upstream_gene_variant MELA-AU 8 38139985 38139985 single base substitution C T intron_variant MELA-AU 8 38139985 38139985 single base substitution C T upstream_gene_variant MELA-AU 8 38140396 38140396 single base substitution T A intron_variant MELA-AU 8 38140396 38140396 single base substitution T A upstream_gene_variant MELA-AU 8 38141286 38141286 single base substitution C T intron_variant MELA-AU 8 38141286 38141286 single base substitution C T upstream_gene_variant MELA-AU 8 38143278 38143278 single base substitution C T downstream_gene_variant MELA-AU 8 38143278 38143278 single base substitution C T intron_variant MELA-AU 8 38145234 38145234 single base substitution G A downstream_gene_variant MELA-AU 8 38145234 38145234 single base substitution G A intron_variant MELA-AU 8 38145675 38145675 single base substitution G A downstream_gene_variant MELA-AU 8 38145675 38145675 single base substitution G A intron_variant MELA-AU 8 38146128 38146128 single base substitution C T downstream_gene_variant MELA-AU 8 38146128 38146128 single base substitution C T synonymous_variant Q1077Q 3231G>A MELA-AU 8 38146128 38146128 single base substitution C T synonymous_variant Q1126Q 3378G>A MELA-AU 8 38146366 38146366 single base substitution C T downstream_gene_variant MELA-AU 8 38146366 38146366 single base substitution C T intron_variant MELA-AU 8 38146788 38146788 single base substitution G A downstream_gene_variant MELA-AU 8 38146788 38146788 single base substitution G A intron_variant MELA-AU 8 38147069 38147069 single base substitution G A intron_variant MELA-AU 8 38147321 38147321 single base substitution C T intron_variant MELA-AU 8 38147787 38147787 single base substitution G A intron_variant MELA-AU 8 38148683 38148683 single base substitution C T downstream_gene_variant MELA-AU 8 38148683 38148683 single base substitution C T intron_variant MELA-AU 8 38148683 38148683 single base substitution C T upstream_gene_variant MELA-AU 8 38149536 38149536 single base substitution A G downstream_gene_variant MELA-AU 8 38149536 38149536 single base substitution A G intron_variant MELA-AU 8 38149536 38149536 single base substitution A G upstream_gene_variant MELA-AU 8 38150384 38150384 single base substitution G A downstream_gene_variant MELA-AU 8 38150384 38150384 single base substitution G A intron_variant MELA-AU 8 38150384 38150384 single base substitution G A upstream_gene_variant MELA-AU 8 38151368 38151368 single base substitution G A downstream_gene_variant MELA-AU 8 38151368 38151368 single base substitution G A intron_variant MELA-AU 8 38151368 38151368 single base substitution G A upstream_gene_variant MELA-AU 8 38151370 38151370 single base substitution G A downstream_gene_variant MELA-AU 8 38151370 38151370 single base substitution G A intron_variant MELA-AU 8 38151370 38151370 single base substitution G A upstream_gene_variant MELA-AU 8 38151416 38151417 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 8 38151416 38151417 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 8 38151416 38151417 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 8 38151715 38151715 single base substitution C T downstream_gene_variant MELA-AU 8 38151715 38151715 single base substitution C T intron_variant MELA-AU 8 38151715 38151715 single base substitution C T upstream_gene_variant MELA-AU 8 38152452 38152452 single base substitution G A downstream_gene_variant MELA-AU 8 38152452 38152452 single base substitution G A intron_variant MELA-AU 8 38152452 38152452 single base substitution G A upstream_gene_variant MELA-AU 8 38153158 38153158 single base substitution G A downstream_gene_variant MELA-AU 8 38153158 38153158 single base substitution G A intron_variant MELA-AU 8 38153158 38153158 single base substitution G A upstream_gene_variant MELA-AU 8 38153202 38153202 single base substitution G A downstream_gene_variant MELA-AU 8 38153202 38153202 single base substitution G A intron_variant MELA-AU 8 38153202 38153202 single base substitution G A upstream_gene_variant MELA-AU 8 38154594 38154594 single base substitution C A intron_variant MELA-AU 8 38154723 38154723 single base substitution C G intron_variant MELA-AU 8 38156942 38156942 single base substitution G C intron_variant MELA-AU 8 38156997 38156997 single base substitution G A exon_variant MELA-AU 8 38156997 38156997 single base substitution G A intron_variant MELA-AU 8 38156997 38156997 single base substitution G A missense_variant P908L 2723C>T MELA-AU 8 38157027 38157027 single base substitution C A exon_variant MELA-AU 8 38157027 38157027 single base substitution C A intron_variant MELA-AU 8 38157027 38157027 single base substitution C A missense_variant R898L 2693G>T MELA-AU 8 38157156 38157156 single base substitution G A exon_variant MELA-AU 8 38157156 38157156 single base substitution G A intron_variant MELA-AU 8 38157358 38157358 single base substitution T A intron_variant MELA-AU 8 38157358 38157358 single base substitution T A upstream_gene_variant MELA-AU 8 38157773 38157773 single base substitution G A intron_variant MELA-AU 8 38157773 38157773 single base substitution G A upstream_gene_variant MELA-AU 8 38158277 38158278 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 8 38158277 38158278 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 8 38158613 38158613 single base substitution G A intron_variant MELA-AU 8 38158613 38158613 single base substitution G A upstream_gene_variant MELA-AU 8 38158813 38158813 single base substitution G A intron_variant MELA-AU 8 38158813 38158813 single base substitution G A upstream_gene_variant MELA-AU 8 38158964 38158964 single base substitution G A intron_variant MELA-AU 8 38158964 38158964 single base substitution G A upstream_gene_variant MELA-AU 8 38159695 38159695 single base substitution G A intron_variant MELA-AU 8 38159695 38159695 single base substitution G A upstream_gene_variant MELA-AU 8 38160551 38160551 single base substitution C T intron_variant MELA-AU 8 38160551 38160551 single base substitution C T upstream_gene_variant MELA-AU 8 38161403 38161403 single base substitution G A intron_variant MELA-AU 8 38161403 38161403 single base substitution G A upstream_gene_variant MELA-AU 8 38161561 38161561 single base substitution G A intron_variant MELA-AU 8 38161561 38161561 single base substitution G A upstream_gene_variant MELA-AU 8 38162967 38162967 single base substitution G A splice_region_variant MELA-AU 8 38163695 38163695 single base substitution G A intron_variant MELA-AU 8 38163925 38163925 single base substitution G A intron_variant MELA-AU 8 38164251 38164251 single base substitution T C intron_variant MELA-AU 8 38164342 38164342 single base substitution G A intron_variant MELA-AU 8 38165647 38165647 single base substitution G A intron_variant MELA-AU 8 38166511 38166511 single base substitution G A intron_variant MELA-AU 8 38166589 38166589 single base substitution G A intron_variant MELA-AU 8 38169309 38169309 single base substitution G A downstream_gene_variant MELA-AU 8 38169309 38169309 single base substitution G A intron_variant MELA-AU 8 38169557 38169557 single base substitution G A downstream_gene_variant MELA-AU 8 38169557 38169557 single base substitution G A intron_variant MELA-AU 8 38169780 38169780 single base substitution A T downstream_gene_variant MELA-AU 8 38169780 38169780 single base substitution A T intron_variant MELA-AU 8 38169898 38169898 single base substitution A C downstream_gene_variant MELA-AU 8 38169898 38169898 single base substitution A C intron_variant MELA-AU 8 38169914 38169914 single base substitution G A downstream_gene_variant MELA-AU 8 38169914 38169914 single base substitution G A intron_variant MELA-AU 8 38169988 38169988 single base substitution G A downstream_gene_variant MELA-AU 8 38169988 38169988 single base substitution G A intron_variant MELA-AU 8 38170319 38170319 single base substitution G A downstream_gene_variant MELA-AU 8 38170319 38170319 single base substitution G A intron_variant MELA-AU 8 38170324 38170324 single base substitution A G downstream_gene_variant MELA-AU 8 38170324 38170324 single base substitution A G intron_variant MELA-AU 8 38171326 38171326 single base substitution T C downstream_gene_variant MELA-AU 8 38171326 38171326 single base substitution T C intron_variant MELA-AU 8 38171513 38171513 single base substitution G A downstream_gene_variant MELA-AU 8 38171513 38171513 single base substitution G A intron_variant MELA-AU 8 38172779 38172779 single base substitution G A downstream_gene_variant MELA-AU 8 38172779 38172779 single base substitution G A intron_variant MELA-AU 8 38173458 38173458 single base substitution G A downstream_gene_variant MELA-AU 8 38173458 38173458 single base substitution G A missense_variant S653F 1958C>T MELA-AU 8 38173923 38173923 single base substitution C T downstream_gene_variant MELA-AU 8 38173923 38173923 single base substitution C T intron_variant MELA-AU 8 38173983 38173983 single base substitution G A 3_prime_UTR_variant MELA-AU 8 38173983 38173983 single base substitution G A downstream_gene_variant MELA-AU 8 38173983 38173983 single base substitution G A intron_variant MELA-AU 8 38174298 38174298 single base substitution G A 3_prime_UTR_variant MELA-AU 8 38174298 38174298 single base substitution G A downstream_gene_variant MELA-AU 8 38174298 38174298 single base substitution G A intron_variant MELA-AU 8 38174611 38174611 single base substitution G A 3_prime_UTR_variant MELA-AU 8 38174611 38174611 single base substitution G A downstream_gene_variant MELA-AU 8 38174611 38174611 single base substitution G A exon_variant MELA-AU 8 38174611 38174611 single base substitution G A intron_variant MELA-AU 8 38175124 38175125 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 8 38175124 38175125 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 8 38175124 38175125 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 8 38175124 38175125 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 8 38178342 38178342 single base substitution G A 3_prime_UTR_variant MELA-AU 8 38178342 38178342 single base substitution G A intron_variant MELA-AU 8 38178342 38178342 single base substitution G A upstream_gene_variant MELA-AU 8 38178448 38178448 single base substitution G A 3_prime_UTR_variant MELA-AU 8 38178448 38178448 single base substitution G A intron_variant MELA-AU 8 38178448 38178448 single base substitution G A upstream_gene_variant MELA-AU 8 38178566 38178566 single base substitution A G intron_variant MELA-AU 8 38178566 38178566 single base substitution A G synonymous_variant S77S 231T>C MELA-AU 8 38178566 38178566 single base substitution A G upstream_gene_variant MELA-AU 8 38179370 38179370 single base substitution G A intron_variant MELA-AU 8 38179370 38179370 single base substitution G A upstream_gene_variant MELA-AU 8 38179574 38179574 single base substitution C T intron_variant MELA-AU 8 38179574 38179574 single base substitution C T upstream_gene_variant MELA-AU 8 38181264 38181264 single base substitution G A intron_variant MELA-AU 8 38181264 38181264 single base substitution G A upstream_gene_variant MELA-AU 8 38181446 38181446 single base substitution G A intron_variant MELA-AU 8 38181446 38181446 single base substitution G A upstream_gene_variant MELA-AU 8 38181619 38181619 single base substitution A G intron_variant MELA-AU 8 38181619 38181619 single base substitution A G upstream_gene_variant MELA-AU 8 38181771 38181771 single base substitution C T intron_variant MELA-AU 8 38181771 38181771 single base substitution C T upstream_gene_variant MELA-AU 8 38182231 38182231 single base substitution G A intron_variant MELA-AU 8 38182539 38182539 single base substitution A G intron_variant MELA-AU 8 38183751 38183751 single base substitution T A intron_variant MELA-AU 8 38183828 38183828 single base substitution T G intron_variant MELA-AU 8 38184490 38184490 single base substitution T G intron_variant MELA-AU 8 38184490 38184490 single base substitution T G upstream_gene_variant MELA-AU 8 38184612 38184612 single base substitution G A intron_variant MELA-AU 8 38184612 38184612 single base substitution G A upstream_gene_variant MELA-AU 8 38185392 38185392 single base substitution G A intron_variant MELA-AU 8 38185392 38185392 single base substitution G A upstream_gene_variant MELA-AU 8 38185449 38185449 single base substitution G T intron_variant MELA-AU 8 38185449 38185449 single base substitution G T upstream_gene_variant MELA-AU 8 38185711 38185711 single base substitution G A intron_variant MELA-AU 8 38185711 38185711 single base substitution G A upstream_gene_variant MELA-AU 8 38186707 38186707 single base substitution G A intron_variant MELA-AU 8 38186707 38186707 single base substitution G A upstream_gene_variant MELA-AU 8 38186709 38186709 single base substitution G A intron_variant MELA-AU 8 38186709 38186709 single base substitution G A upstream_gene_variant MELA-AU 8 38186951 38186951 single base substitution A T missense_variant L509H 1526T>A MELA-AU 8 38186951 38186951 single base substitution A T upstream_gene_variant MELA-AU 8 38187265 38187265 single base substitution G A synonymous_variant S404S 1212C>T MELA-AU 8 38187265 38187265 single base substitution G A upstream_gene_variant MELA-AU 8 38187705 38187705 single base substitution G A intron_variant MELA-AU 8 38187705 38187705 single base substitution G A upstream_gene_variant MELA-AU 8 38188071 38188071 single base substitution A T intron_variant MELA-AU 8 38188071 38188071 single base substitution A T upstream_gene_variant MELA-AU 8 38188366 38188366 single base substitution G A intron_variant MELA-AU 8 38188366 38188366 single base substitution G A upstream_gene_variant MELA-AU 8 38188842 38188842 deletion of <=200bp A - intron_variant MELA-AU 8 38188842 38188842 deletion of <=200bp A - upstream_gene_variant MELA-AU 8 38188879 38188879 single base substitution G A intron_variant MELA-AU 8 38188879 38188879 single base substitution G A upstream_gene_variant MELA-AU 8 38189381 38189381 single base substitution T C intron_variant MELA-AU 8 38189413 38189413 single base substitution T A intron_variant MELA-AU 8 38190466 38190466 single base substitution A G downstream_gene_variant MELA-AU 8 38190466 38190466 single base substitution A G intron_variant MELA-AU 8 38190713 38190713 single base substitution G A downstream_gene_variant MELA-AU 8 38190713 38190713 single base substitution G A intron_variant MELA-AU 8 38191397 38191397 single base substitution A T downstream_gene_variant MELA-AU 8 38191397 38191397 single base substitution A T intron_variant MELA-AU 8 38191601 38191601 single base substitution G A downstream_gene_variant MELA-AU 8 38191601 38191601 single base substitution G A intron_variant MELA-AU 8 38191878 38191878 single base substitution G A downstream_gene_variant MELA-AU 8 38191878 38191878 single base substitution G A intron_variant MELA-AU 8 38192058 38192058 single base substitution G A downstream_gene_variant MELA-AU 8 38192058 38192058 single base substitution G A intron_variant MELA-AU 8 38192063 38192063 single base substitution G A downstream_gene_variant MELA-AU 8 38192063 38192063 single base substitution G A intron_variant MELA-AU 8 38192776 38192776 single base substitution G A downstream_gene_variant MELA-AU 8 38192776 38192776 single base substitution G A intron_variant MELA-AU 8 38193334 38193334 single base substitution G A downstream_gene_variant MELA-AU 8 38193334 38193334 single base substitution G A intron_variant MELA-AU 8 38193710 38193710 single base substitution A C downstream_gene_variant MELA-AU 8 38193710 38193710 single base substitution A C intron_variant MELA-AU 8 38195882 38195882 single base substitution G C intron_variant MELA-AU 8 38196515 38196515 single base substitution G A intron_variant MELA-AU 8 38196577 38196577 single base substitution G A intron_variant MELA-AU 8 38196584 38196584 single base substitution G A intron_variant MELA-AU 8 38197258 38197258 single base substitution G A intron_variant MELA-AU 8 38197299 38197299 single base substitution G A intron_variant MELA-AU 8 38198751 38198751 single base substitution C T intron_variant MELA-AU 8 38199246 38199246 single base substitution G A intron_variant MELA-AU 8 38200429 38200429 single base substitution G A intron_variant MELA-AU 8 38200548 38200548 single base substitution A G intron_variant MELA-AU 8 38201001 38201002 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 8 38201001 38201002 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 8 38201008 38201008 single base substitution G A downstream_gene_variant MELA-AU 8 38201008 38201008 single base substitution G A intron_variant MELA-AU 8 38201608 38201608 single base substitution G A downstream_gene_variant MELA-AU 8 38201608 38201608 single base substitution G A intron_variant MELA-AU 8 38202312 38202312 single base substitution G A downstream_gene_variant MELA-AU 8 38202312 38202312 single base substitution G A intron_variant MELA-AU 8 38202731 38202731 single base substitution G A downstream_gene_variant MELA-AU 8 38202731 38202731 single base substitution G A intron_variant MELA-AU 8 38202781 38202781 single base substitution G A downstream_gene_variant MELA-AU 8 38202781 38202781 single base substitution G A intron_variant MELA-AU 8 38205616 38205616 single base substitution G A downstream_gene_variant MELA-AU 8 38205616 38205616 single base substitution G A missense_variant S25F 74C>T MELA-AU 8 38206916 38206917 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 8 38208053 38208053 single base substitution T A intron_variant MELA-AU 8 38208594 38208594 single base substitution A C intron_variant MELA-AU 8 38208832 38208832 single base substitution T A intron_variant MELA-AU 8 38208936 38208936 single base substitution A C intron_variant MELA-AU 8 38209407 38209407 single base substitution G A intron_variant MELA-AU 8 38209578 38209578 single base substitution G A intron_variant MELA-AU 8 38212249 38212249 single base substitution G A intron_variant MELA-AU 8 38212550 38212550 single base substitution C T intron_variant MELA-AU 8 38212552 38212552 single base substitution G A intron_variant MELA-AU 8 38212859 38212859 single base substitution G A intron_variant MELA-AU 8 38213370 38213370 single base substitution G A intron_variant MELA-AU 8 38213861 38213861 single base substitution G A intron_variant MELA-AU 8 38214850 38214851 multiple base substitution (>=2bp and <=200bp) AG TA intron_variant MELA-AU 8 38215377 38215377 single base substitution A G intron_variant MELA-AU 8 38216460 38216460 single base substitution C T intron_variant MELA-AU 8 38218498 38218498 single base substitution A C intron_variant MELA-AU 8 38218542 38218542 single base substitution G A intron_variant MELA-AU 8 38218659 38218659 single base substitution G T intron_variant MELA-AU 8 38219181 38219181 single base substitution G A intron_variant MELA-AU 8 38220921 38220922 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 8 38221266 38221266 single base substitution G A intron_variant MELA-AU 8 38221368 38221368 single base substitution T C intron_variant MELA-AU 8 38221612 38221612 single base substitution G A intron_variant MELA-AU 8 38222365 38222365 single base substitution A T intron_variant MELA-AU 8 38222762 38222762 single base substitution C A intron_variant MELA-AU 8 38223899 38223899 single base substitution G A intron_variant MELA-AU 8 38224756 38224756 single base substitution G A intron_variant MELA-AU 8 38225417 38225417 single base substitution G A intron_variant MELA-AU 8 38226470 38226470 single base substitution A G intron_variant MELA-AU 8 38227255 38227255 single base substitution G A intron_variant MELA-AU 8 38227974 38227974 single base substitution A T intron_variant MELA-AU 8 38228432 38228432 single base substitution G A intron_variant MELA-AU 8 38229011 38229011 single base substitution G A intron_variant MELA-AU 8 38229544 38229544 single base substitution G C intron_variant MELA-AU 8 38230201 38230201 single base substitution G A intron_variant MELA-AU 8 38231619 38231619 single base substitution G A intron_variant MELA-AU 8 38232499 38232499 single base substitution G A intron_variant MELA-AU 8 38232522 38232522 single base substitution G A intron_variant MELA-AU 8 38234347 38234347 single base substitution G A intron_variant MELA-AU 8 38234536 38234536 single base substitution G A intron_variant MELA-AU 8 38234891 38234891 single base substitution G A intron_variant MELA-AU 8 38235704 38235704 single base substitution C G intron_variant MELA-AU 8 38235964 38235964 single base substitution C T intron_variant MELA-AU 8 38236840 38236840 single base substitution T C intron_variant MELA-AU 8 38237118 38237132 deletion of <=200bp TTTACAAAGTACCAC - intron_variant MELA-AU 8 38237580 38237580 single base substitution C T intron_variant MELA-AU 8 38238302 38238303 multiple base substitution (>=2bp and <=200bp) CC TT 5_prime_UTR_variant MELA-AU 8 38238302 38238303 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 8 38239721 38239721 single base substitution C T 5_prime_UTR_variant MELA-AU 8 38239721 38239721 single base substitution C T upstream_gene_variant MELA-AU 8 38240314 38240314 single base substitution C T upstream_gene_variant MELA-AU 8 38240545 38240545 single base substitution G A upstream_gene_variant MELA-AU 8 38241230 38241230 single base substitution C T upstream_gene_variant ORCA-IN 8 38124818 38124818 single base substitution C T downstream_gene_variant ORCA-IN 8 38130379 38130379 single base substitution C T 3_prime_UTR_variant ORCA-IN 8 38130379 38130379 single base substitution C T downstream_gene_variant ORCA-IN 8 38152383 38152383 single base substitution C T downstream_gene_variant ORCA-IN 8 38152383 38152383 single base substitution C T intron_variant ORCA-IN 8 38152383 38152383 single base substitution C T upstream_gene_variant ORCA-IN 8 38196214 38196214 single base substitution G C intron_variant ORCA-IN 8 38196880 38196880 single base substitution G C intron_variant ORCA-IN 8 38221461 38221461 single base substitution G C intron_variant ORCA-IN 8 38239293 38239293 single base substitution T C intron_variant ORCA-IN 8 38239293 38239293 single base substitution T C upstream_gene_variant OV-AU 8 38132125 38132125 single base substitution A G 3_prime_UTR_variant OV-AU 8 38132125 38132125 single base substitution A G downstream_gene_variant OV-AU 8 38141025 38141025 single base substitution C A intron_variant OV-AU 8 38141025 38141025 single base substitution C A upstream_gene_variant OV-AU 8 38145257 38145257 single base substitution A C downstream_gene_variant OV-AU 8 38145257 38145257 single base substitution A C intron_variant OV-AU 8 38150420 38150420 single base substitution G A downstream_gene_variant OV-AU 8 38150420 38150420 single base substitution G A intron_variant OV-AU 8 38150420 38150420 single base substitution G A upstream_gene_variant OV-AU 8 38172858 38172858 single base substitution T C downstream_gene_variant OV-AU 8 38172858 38172858 single base substitution T C intron_variant OV-AU 8 38172947 38172947 single base substitution T C downstream_gene_variant OV-AU 8 38172947 38172947 single base substitution T C missense_variant D701G 2102A>G OV-AU 8 38184862 38184862 single base substitution C A intron_variant OV-AU 8 38184862 38184862 single base substitution C A upstream_gene_variant OV-AU 8 38202420 38202420 single base substitution A G downstream_gene_variant OV-AU 8 38202420 38202420 single base substitution A G intron_variant OV-AU 8 38204180 38204180 single base substitution T A downstream_gene_variant OV-AU 8 38204180 38204180 single base substitution T A intron_variant OV-AU 8 38207211 38207211 single base substitution G T intron_variant OV-AU 8 38208677 38208677 single base substitution A T intron_variant OV-AU 8 38208836 38208836 single base substitution C T intron_variant OV-AU 8 38216632 38216632 single base substitution C A intron_variant OV-AU 8 38226130 38226130 single base substitution T A intron_variant OV-AU 8 38230206 38230206 single base substitution G A intron_variant OV-AU 8 38234817 38234817 single base substitution C T intron_variant OV-AU 8 38235113 38235113 single base substitution C T intron_variant OV-AU 8 38235172 38235172 single base substitution T A intron_variant OV-AU 8 38237251 38237251 single base substitution C T intron_variant OV-AU 8 38237885 38237885 single base substitution C A intron_variant OV-AU 8 38239786 38239786 single base substitution C T 5_prime_UTR_variant OV-AU 8 38239786 38239786 single base substitution C T upstream_gene_variant PACA-AU 8 38123939 38123939 single base substitution G C downstream_gene_variant PACA-AU 8 38129637 38129637 single base substitution A T 3_prime_UTR_variant PACA-AU 8 38129637 38129637 single base substitution A T downstream_gene_variant PACA-AU 8 38137105 38137105 single base substitution T C exon_variant PACA-AU 8 38137105 38137105 single base substitution T C missense_variant N1189S 3566A>G PACA-AU 8 38137105 38137105 single base substitution T C missense_variant N1227S 3680A>G PACA-AU 8 38137105 38137105 single base substitution T C missense_variant N1238S 3713A>G PACA-AU 8 38138661 38138661 single base substitution G A intron_variant PACA-AU 8 38138661 38138661 single base substitution G A upstream_gene_variant PACA-AU 8 38143751 38143751 single base substitution C G downstream_gene_variant PACA-AU 8 38143751 38143751 single base substitution C G intron_variant PACA-AU 8 38143841 38143841 single base substitution C G downstream_gene_variant PACA-AU 8 38143841 38143841 single base substitution C G intron_variant PACA-AU 8 38143866 38143866 single base substitution C G downstream_gene_variant PACA-AU 8 38143866 38143866 single base substitution C G intron_variant PACA-AU 8 38143924 38143924 single base substitution C G downstream_gene_variant PACA-AU 8 38143924 38143924 single base substitution C G intron_variant PACA-AU 8 38143935 38143935 single base substitution C G downstream_gene_variant PACA-AU 8 38143935 38143935 single base substitution C G intron_variant PACA-AU 8 38144233 38144233 single base substitution C G downstream_gene_variant PACA-AU 8 38144233 38144233 single base substitution C G intron_variant PACA-AU 8 38144352 38144352 single base substitution C G downstream_gene_variant PACA-AU 8 38144352 38144352 single base substitution C G intron_variant PACA-AU 8 38149606 38149606 single base substitution T A downstream_gene_variant PACA-AU 8 38149606 38149606 single base substitution T A intron_variant PACA-AU 8 38149606 38149606 single base substitution T A upstream_gene_variant PACA-AU 8 38150793 38150793 single base substitution G T downstream_gene_variant PACA-AU 8 38150793 38150793 single base substitution G T intron_variant PACA-AU 8 38150793 38150793 single base substitution G T upstream_gene_variant PACA-AU 8 38154590 38154590 single base substitution T C intron_variant PACA-AU 8 38158168 38158168 single base substitution C T intron_variant PACA-AU 8 38158168 38158168 single base substitution C T upstream_gene_variant PACA-AU 8 38164648 38164648 deletion of <=200bp A - intron_variant PACA-AU 8 38167003 38167003 single base substitution T A intron_variant PACA-AU 8 38169038 38169038 single base substitution T C downstream_gene_variant PACA-AU 8 38169038 38169038 single base substitution T C intron_variant PACA-AU 8 38172594 38172594 single base substitution A G downstream_gene_variant PACA-AU 8 38172594 38172594 single base substitution A G intron_variant PACA-AU 8 38176491 38176491 single base substitution G T downstream_gene_variant PACA-AU 8 38176491 38176491 single base substitution G T exon_variant PACA-AU 8 38176491 38176491 single base substitution G T intron_variant PACA-AU 8 38179748 38179748 single base substitution G A intron_variant PACA-AU 8 38179748 38179748 single base substitution G A upstream_gene_variant PACA-AU 8 38184192 38184192 single base substitution G C intron_variant PACA-AU 8 38186512 38186512 single base substitution T C intron_variant PACA-AU 8 38186512 38186512 single base substitution T C upstream_gene_variant PACA-AU 8 38187879 38187879 single base substitution C T intron_variant PACA-AU 8 38187879 38187879 single base substitution C T upstream_gene_variant PACA-AU 8 38190938 38190938 single base substitution G A downstream_gene_variant PACA-AU 8 38190938 38190938 single base substitution G A intron_variant PACA-AU 8 38194847 38194847 single base substitution C A downstream_gene_variant PACA-AU 8 38194847 38194847 single base substitution C A missense_variant V296F 886G>T PACA-AU 8 38195579 38195587 deletion of <=200bp GGAGGGTGA - intron_variant PACA-AU 8 38197533 38197533 single base substitution C G intron_variant PACA-AU 8 38202131 38202131 single base substitution A T downstream_gene_variant PACA-AU 8 38202131 38202131 single base substitution A T intron_variant PACA-AU 8 38203882 38203882 single base substitution T A downstream_gene_variant PACA-AU 8 38203882 38203882 single base substitution T A intron_variant PACA-AU 8 38205468 38205468 single base substitution T C downstream_gene_variant PACA-AU 8 38205468 38205468 single base substitution T C synonymous_variant P74P 222A>G PACA-AU 8 38206314 38206314 single base substitution G A intron_variant PACA-AU 8 38206795 38206795 single base substitution C A intron_variant PACA-AU 8 38214209 38214209 single base substitution A G intron_variant PACA-AU 8 38215909 38215909 single base substitution T C intron_variant PACA-AU 8 38217919 38217919 single base substitution T A intron_variant PACA-AU 8 38218703 38218703 single base substitution G T intron_variant PACA-AU 8 38226319 38226319 single base substitution G T intron_variant PACA-AU 8 38235717 38235717 single base substitution C T intron_variant PACA-AU 8 38239266 38239266 single base substitution A G intron_variant PACA-AU 8 38239266 38239266 single base substitution A G upstream_gene_variant PACA-AU 8 38239348 38239348 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant PACA-AU 8 38239348 38239348 single base substitution G A upstream_gene_variant PACA-AU 8 38243519 38243519 insertion of <=200bp - A upstream_gene_variant PACA-CA 8 38124658 38124658 single base substitution A G downstream_gene_variant PACA-CA 8 38126012 38126012 insertion of <=200bp - A downstream_gene_variant PACA-CA 8 38126074 38126075 deletion of <=200bp GA - downstream_gene_variant PACA-CA 8 38134287 38134287 single base substitution C T intron_variant PACA-CA 8 38135579 38135579 single base substitution C T intron_variant PACA-CA 8 38136629 38136629 single base substitution T C intron_variant PACA-CA 8 38136997 38136997 single base substitution G A intron_variant PACA-CA 8 38147214 38147214 single base substitution C G intron_variant PACA-CA 8 38148240 38148240 deletion of <=200bp A - exon_variant PACA-CA 8 38148240 38148240 deletion of <=200bp A - intron_variant PACA-CA 8 38150897 38150897 single base substitution G A downstream_gene_variant PACA-CA 8 38150897 38150897 single base substitution G A intron_variant PACA-CA 8 38150897 38150897 single base substitution G A upstream_gene_variant PACA-CA 8 38152361 38152361 single base substitution A T downstream_gene_variant PACA-CA 8 38152361 38152361 single base substitution A T intron_variant PACA-CA 8 38152361 38152361 single base substitution A T upstream_gene_variant PACA-CA 8 38152531 38152531 single base substitution G A downstream_gene_variant PACA-CA 8 38152531 38152531 single base substitution G A intron_variant PACA-CA 8 38152531 38152531 single base substitution G A upstream_gene_variant PACA-CA 8 38156990 38156990 single base substitution C T exon_variant PACA-CA 8 38156990 38156990 single base substitution C T intron_variant PACA-CA 8 38156990 38156990 single base substitution C T synonymous_variant S910S 2730G>A PACA-CA 8 38160229 38160229 single base substitution T C intron_variant PACA-CA 8 38160229 38160229 single base substitution T C upstream_gene_variant PACA-CA 8 38163127 38163127 single base substitution T C intron_variant PACA-CA 8 38164875 38164875 deletion of <=200bp G - intron_variant PACA-CA 8 38167159 38167159 deletion of <=200bp A - intron_variant PACA-CA 8 38169096 38169105 deletion of <=200bp AGCCTCCCAA - downstream_gene_variant PACA-CA 8 38169096 38169105 deletion of <=200bp AGCCTCCCAA - intron_variant PACA-CA 8 38171900 38171900 deletion of <=200bp A - downstream_gene_variant PACA-CA 8 38171900 38171900 deletion of <=200bp A - intron_variant PACA-CA 8 38173389 38173389 single base substitution T C downstream_gene_variant PACA-CA 8 38173389 38173389 single base substitution T C intron_variant PACA-CA 8 38175810 38175810 single base substitution C T downstream_gene_variant PACA-CA 8 38175810 38175810 single base substitution C T intron_variant PACA-CA 8 38176462 38176462 deletion of <=200bp T - downstream_gene_variant PACA-CA 8 38176462 38176462 deletion of <=200bp T - exon_variant PACA-CA 8 38176462 38176462 deletion of <=200bp T - splice_region_variant PACA-CA 8 38181702 38181702 single base substitution T C intron_variant PACA-CA 8 38181702 38181702 single base substitution T C upstream_gene_variant PACA-CA 8 38184118 38184118 single base substitution T C intron_variant PACA-CA 8 38184300 38184300 single base substitution A G synonymous_variant N18N 54T>C PACA-CA 8 38184300 38184300 single base substitution A G synonymous_variant N552N 1656T>C PACA-CA 8 38186745 38186745 insertion of <=200bp - T intron_variant PACA-CA 8 38186745 38186745 insertion of <=200bp - T upstream_gene_variant PACA-CA 8 38191363 38191363 single base substitution G A downstream_gene_variant PACA-CA 8 38191363 38191363 single base substitution G A intron_variant PACA-CA 8 38194035 38194035 single base substitution A G downstream_gene_variant PACA-CA 8 38194035 38194035 single base substitution A G intron_variant PACA-CA 8 38195331 38195331 deletion of <=200bp A - intron_variant PACA-CA 8 38196604 38196604 single base substitution G C intron_variant PACA-CA 8 38197456 38197456 single base substitution C G intron_variant PACA-CA 8 38200539 38200539 single base substitution G A intron_variant PACA-CA 8 38200558 38200558 deletion of <=200bp A - intron_variant PACA-CA 8 38201257 38201257 single base substitution C G downstream_gene_variant PACA-CA 8 38201257 38201257 single base substitution C G intron_variant PACA-CA 8 38204250 38204250 single base substitution T A downstream_gene_variant PACA-CA 8 38204250 38204250 single base substitution T A intron_variant PACA-CA 8 38204717 38204717 single base substitution A G downstream_gene_variant PACA-CA 8 38204717 38204717 single base substitution A G intron_variant PACA-CA 8 38215752 38215752 single base substitution T C intron_variant PACA-CA 8 38216069 38216069 deletion of <=200bp A - intron_variant PACA-CA 8 38216263 38216263 single base substitution G A intron_variant PACA-CA 8 38220141 38220141 single base substitution T C intron_variant PACA-CA 8 38227475 38227475 single base substitution C G intron_variant PACA-CA 8 38230886 38230886 single base substitution G A intron_variant PACA-CA 8 38230897 38230897 single base substitution C T intron_variant PACA-CA 8 38230989 38230989 single base substitution G A intron_variant PACA-CA 8 38233615 38233615 deletion of <=200bp T - intron_variant PACA-CA 8 38233745 38233745 single base substitution C T intron_variant PACA-CA 8 38235976 38235976 single base substitution C T intron_variant PACA-CA 8 38240157 38240157 single base substitution C G upstream_gene_variant PACA-CA 8 38242181 38242181 single base substitution G A upstream_gene_variant PACA-CA 8 38242266 38242266 single base substitution C A upstream_gene_variant PAEN-AU 8 38133109 38133109 single base substitution T G 3_prime_UTR_variant PAEN-AU 8 38133109 38133109 single base substitution T G exon_variant PAEN-AU 8 38145257 38145257 single base substitution A C downstream_gene_variant PAEN-AU 8 38145257 38145257 single base substitution A C intron_variant PAEN-AU 8 38153087 38153087 single base substitution C G downstream_gene_variant PAEN-AU 8 38153087 38153087 single base substitution C G intron_variant PAEN-AU 8 38153087 38153087 single base substitution C G upstream_gene_variant PAEN-AU 8 38154466 38154466 single base substitution A C intron_variant PAEN-AU 8 38167941 38167941 single base substitution C T intron_variant PAEN-AU 8 38235448 38235448 single base substitution C T intron_variant PBCA-DE 8 38140925 38140925 single base substitution T C intron_variant PBCA-DE 8 38140925 38140925 single base substitution T C upstream_gene_variant PBCA-DE 8 38151603 38151603 insertion of <=200bp - T downstream_gene_variant PBCA-DE 8 38151603 38151603 insertion of <=200bp - T intron_variant PBCA-DE 8 38151603 38151603 insertion of <=200bp - T upstream_gene_variant PBCA-DE 8 38153162 38153162 single base substitution C A downstream_gene_variant PBCA-DE 8 38153162 38153162 single base substitution C A intron_variant PBCA-DE 8 38153162 38153162 single base substitution C A upstream_gene_variant PBCA-DE 8 38154021 38154021 single base substitution C T intron_variant PBCA-DE 8 38155339 38155339 deletion of <=200bp T - intron_variant PBCA-DE 8 38156049 38156050 deletion of <=200bp TG - intron_variant PBCA-DE 8 38156501 38156501 insertion of <=200bp - T intron_variant PBCA-DE 8 38163930 38163930 single base substitution C A intron_variant PBCA-DE 8 38166783 38166783 single base substitution C T intron_variant PBCA-DE 8 38170006 38170006 deletion of <=200bp C - downstream_gene_variant PBCA-DE 8 38170006 38170006 deletion of <=200bp C - intron_variant PBCA-DE 8 38172976 38172976 single base substitution C T downstream_gene_variant PBCA-DE 8 38172976 38172976 single base substitution C T synonymous_variant S691S 2073G>A PBCA-DE 8 38181924 38181924 insertion of <=200bp - T intron_variant PBCA-DE 8 38184423 38184423 single base substitution C A intron_variant PBCA-DE 8 38184423 38184423 single base substitution C A upstream_gene_variant PBCA-DE 8 38188251 38188251 deletion of <=200bp T - intron_variant PBCA-DE 8 38188251 38188251 deletion of <=200bp T - upstream_gene_variant PBCA-DE 8 38198943 38198943 insertion of <=200bp - GA intron_variant PBCA-DE 8 38198945 38198946 deletion of <=200bp AC - intron_variant PBCA-DE 8 38199472 38199472 deletion of <=200bp A - intron_variant PBCA-DE 8 38203166 38203166 single base substitution C T downstream_gene_variant PBCA-DE 8 38203166 38203166 single base substitution C T intron_variant PBCA-DE 8 38204421 38204421 single base substitution C T downstream_gene_variant PBCA-DE 8 38204421 38204421 single base substitution C T intron_variant PBCA-DE 8 38208331 38208331 single base substitution A T intron_variant PBCA-DE 8 38210714 38210714 single base substitution C A intron_variant PBCA-DE 8 38221928 38221928 single base substitution A G intron_variant PBCA-DE 8 38231633 38231633 deletion of <=200bp A - intron_variant PBCA-DE 8 38233642 38233642 single base substitution C A intron_variant PBCA-DE 8 38242082 38242082 insertion of <=200bp - T upstream_gene_variant PBCA-DE 8 38242482 38242482 single base substitution G T upstream_gene_variant PRAD-CA 8 38129834 38129834 single base substitution G C 3_prime_UTR_variant PRAD-CA 8 38129834 38129834 single base substitution G C downstream_gene_variant PRAD-CA 8 38131015 38131015 single base substitution G C 3_prime_UTR_variant PRAD-CA 8 38131015 38131015 single base substitution G C downstream_gene_variant PRAD-CA 8 38144949 38144949 single base substitution A C downstream_gene_variant PRAD-CA 8 38144949 38144949 single base substitution A C intron_variant PRAD-CA 8 38146025 38146025 single base substitution T C downstream_gene_variant PRAD-CA 8 38146025 38146025 single base substitution T C missense_variant T1112A 3334A>G PRAD-CA 8 38146025 38146025 single base substitution T C missense_variant T1161A 3481A>G PRAD-CA 8 38151162 38151162 single base substitution C T downstream_gene_variant PRAD-CA 8 38151162 38151162 single base substitution C T intron_variant PRAD-CA 8 38151162 38151162 single base substitution C T upstream_gene_variant PRAD-CA 8 38154549 38154549 single base substitution G C intron_variant PRAD-CA 8 38154909 38154909 single base substitution G C intron_variant PRAD-CA 8 38155052 38155052 single base substitution G C intron_variant PRAD-CA 8 38155328 38155328 single base substitution G A intron_variant PRAD-CA 8 38155364 38155364 single base substitution G A intron_variant PRAD-CA 8 38155871 38155871 single base substitution G A intron_variant PRAD-CA 8 38157436 38157436 single base substitution A G intron_variant PRAD-CA 8 38157436 38157436 single base substitution A G upstream_gene_variant PRAD-CA 8 38167003 38167003 single base substitution T A intron_variant PRAD-UK 8 38125929 38125929 single base substitution G C downstream_gene_variant PRAD-UK 8 38129362 38129362 single base substitution C T 3_prime_UTR_variant PRAD-UK 8 38129362 38129362 single base substitution C T downstream_gene_variant PRAD-UK 8 38141223 38141223 single base substitution G A intron_variant PRAD-UK 8 38141223 38141223 single base substitution G A upstream_gene_variant PRAD-UK 8 38148806 38148806 single base substitution T C downstream_gene_variant PRAD-UK 8 38148806 38148806 single base substitution T C intron_variant PRAD-UK 8 38148806 38148806 single base substitution T C upstream_gene_variant PRAD-UK 8 38150765 38150765 single base substitution A G downstream_gene_variant PRAD-UK 8 38150765 38150765 single base substitution A G intron_variant PRAD-UK 8 38150765 38150765 single base substitution A G upstream_gene_variant PRAD-UK 8 38186110 38186110 single base substitution T A intron_variant PRAD-UK 8 38186110 38186110 single base substitution T A upstream_gene_variant PRAD-UK 8 38219359 38219359 single base substitution G C intron_variant PRAD-UK 8 38244135 38244135 single base substitution C T upstream_gene_variant PRAD-US 8 38146134 38146134 insertion of <=200bp - T downstream_gene_variant PRAD-US 8 38146134 38146134 insertion of <=200bp - T frameshift_variant H1075H? PRAD-US 8 38146134 38146134 insertion of <=200bp - T frameshift_variant H1124H? PRAD-US 8 38157097 38157097 single base substitution G A exon_variant PRAD-US 8 38157097 38157097 single base substitution G A intron_variant PRAD-US 8 38157097 38157097 single base substitution G A stop_gained Q875* 2623C>T PRAD-US 8 38162867 38162867 single base substitution C T missense_variant R780H 2339G>A READ-US 8 38124754 38124754 single base substitution G A downstream_gene_variant READ-US 8 38137094 38137094 single base substitution G A exon_variant READ-US 8 38137094 38137094 single base substitution G A stop_gained R1193* 3577C>T READ-US 8 38137094 38137094 single base substitution G A stop_gained R1231* 3691C>T READ-US 8 38137094 38137094 single base substitution G A stop_gained R1242* 3724C>T READ-US 8 38148108 38148108 single base substitution G T exon_variant READ-US 8 38148108 38148108 single base substitution G T missense_variant F1001L 3003C>A READ-US 8 38148108 38148108 single base substitution G T missense_variant F952L 2856C>A READ-US 8 38153316 38153316 deletion of <=200bp G - exon_variant READ-US 8 38153316 38153316 deletion of <=200bp G - frameshift_variant Y922 READ-US 8 38153316 38153316 deletion of <=200bp G - frameshift_variant Y971 READ-US 8 38162945 38162945 single base substitution G A missense_variant S754L 2261C>T READ-US 8 38173513 38173513 single base substitution G A downstream_gene_variant READ-US 8 38173513 38173513 single base substitution G A missense_variant R635C 1903C>T RECA-EU 8 38129743 38129743 single base substitution C G 3_prime_UTR_variant RECA-EU 8 38129743 38129743 single base substitution C G downstream_gene_variant RECA-EU 8 38136362 38136362 single base substitution G A intron_variant RECA-EU 8 38140852 38140852 single base substitution A C intron_variant RECA-EU 8 38140852 38140852 single base substitution A C upstream_gene_variant RECA-EU 8 38147518 38147518 single base substitution G A intron_variant RECA-EU 8 38147519 38147519 single base substitution A C intron_variant RECA-EU 8 38193206 38193206 single base substitution T G downstream_gene_variant RECA-EU 8 38193206 38193206 single base substitution T G intron_variant RECA-EU 8 38207746 38207746 single base substitution A G intron_variant RECA-EU 8 38212674 38212674 single base substitution T G intron_variant RECA-EU 8 38214204 38214204 single base substitution C A intron_variant RECA-EU 8 38218148 38218148 single base substitution A G intron_variant RECA-EU 8 38219556 38219556 single base substitution T C intron_variant RECA-EU 8 38220443 38220443 single base substitution G A intron_variant RECA-EU 8 38222387 38222387 single base substitution T A intron_variant RECA-EU 8 38227157 38227157 single base substitution A G intron_variant RECA-EU 8 38236686 38236686 single base substitution A T intron_variant SKCA-BR 8 38126264 38126264 single base substitution A G downstream_gene_variant SKCA-BR 8 38130056 38130056 single base substitution T C 3_prime_UTR_variant SKCA-BR 8 38130056 38130056 single base substitution T C downstream_gene_variant SKCA-BR 8 38141454 38141454 single base substitution T G intron_variant SKCA-BR 8 38141454 38141454 single base substitution T G upstream_gene_variant SKCA-BR 8 38153625 38153625 single base substitution A G intron_variant SKCA-BR 8 38154465 38154465 single base substitution G A intron_variant SKCA-BR 8 38157125 38157125 single base substitution G T exon_variant SKCA-BR 8 38157125 38157125 single base substitution G T intron_variant SKCA-BR 8 38157999 38157999 single base substitution T A intron_variant SKCA-BR 8 38157999 38157999 single base substitution T A upstream_gene_variant SKCA-BR 8 38158055 38158055 single base substitution T C intron_variant SKCA-BR 8 38158055 38158055 single base substitution T C upstream_gene_variant SKCA-BR 8 38164165 38164165 single base substitution G A intron_variant SKCA-BR 8 38164643 38164643 single base substitution A T intron_variant SKCA-BR 8 38164647 38164647 single base substitution T A intron_variant SKCA-BR 8 38164650 38164652 deletion of <=200bp AAT - intron_variant SKCA-BR 8 38168379 38168379 single base substitution A T intron_variant SKCA-BR 8 38171228 38171228 single base substitution C A downstream_gene_variant SKCA-BR 8 38171228 38171228 single base substitution C A intron_variant SKCA-BR 8 38171643 38171643 single base substitution G A downstream_gene_variant SKCA-BR 8 38171643 38171643 single base substitution G A intron_variant SKCA-BR 8 38172712 38172712 single base substitution C T downstream_gene_variant SKCA-BR 8 38172712 38172712 single base substitution C T intron_variant SKCA-BR 8 38173566 38173566 single base substitution T G downstream_gene_variant SKCA-BR 8 38173566 38173566 single base substitution T G splice_region_variant SKCA-BR 8 38176494 38176494 single base substitution T A downstream_gene_variant SKCA-BR 8 38176494 38176494 single base substitution T A exon_variant SKCA-BR 8 38176494 38176494 single base substitution T A intron_variant SKCA-BR 8 38179512 38179512 single base substitution G A intron_variant SKCA-BR 8 38179512 38179512 single base substitution G A upstream_gene_variant SKCA-BR 8 38181386 38181386 single base substitution G A intron_variant SKCA-BR 8 38181386 38181386 single base substitution G A upstream_gene_variant SKCA-BR 8 38186417 38186417 single base substitution G A intron_variant SKCA-BR 8 38186417 38186417 single base substitution G A upstream_gene_variant SKCA-BR 8 38196169 38196169 single base substitution T C intron_variant SKCA-BR 8 38196657 38196657 insertion of <=200bp - CA intron_variant SKCA-BR 8 38200221 38200221 single base substitution T G intron_variant SKCA-BR 8 38202222 38202222 single base substitution C T downstream_gene_variant SKCA-BR 8 38202222 38202222 single base substitution C T intron_variant SKCA-BR 8 38202224 38202224 single base substitution C T downstream_gene_variant SKCA-BR 8 38202224 38202224 single base substitution C T intron_variant SKCA-BR 8 38208491 38208491 insertion of <=200bp - CT intron_variant SKCA-BR 8 38209185 38209185 single base substitution A T intron_variant SKCA-BR 8 38209339 38209339 single base substitution T A intron_variant SKCA-BR 8 38209554 38209554 single base substitution G A intron_variant SKCA-BR 8 38211127 38211127 single base substitution C A intron_variant SKCA-BR 8 38216129 38216129 single base substitution G A intron_variant SKCA-BR 8 38219575 38219575 single base substitution C A intron_variant SKCA-BR 8 38221795 38221795 insertion of <=200bp - AAACAAC intron_variant SKCA-BR 8 38222185 38222185 single base substitution C T intron_variant SKCA-BR 8 38223586 38223586 single base substitution A C intron_variant SKCA-BR 8 38224844 38224844 single base substitution G A intron_variant SKCA-BR 8 38225360 38225360 single base substitution G A intron_variant SKCA-BR 8 38225361 38225361 single base substitution G A intron_variant SKCA-BR 8 38225832 38225832 single base substitution G A intron_variant SKCA-BR 8 38227681 38227681 single base substitution G A intron_variant SKCA-BR 8 38230450 38230450 insertion of <=200bp - TC intron_variant SKCA-BR 8 38237996 38237996 single base substitution G A intron_variant SKCA-BR 8 38239264 38239266 deletion of <=200bp GCA - intron_variant SKCA-BR 8 38239264 38239266 deletion of <=200bp GCA - upstream_gene_variant SKCA-BR 8 38239593 38239593 single base substitution G A 5_prime_UTR_variant SKCA-BR 8 38239593 38239593 single base substitution G A upstream_gene_variant SKCA-BR 8 38244220 38244220 single base substitution T C upstream_gene_variant SKCM-US 8 38124821 38124821 single base substitution C T downstream_gene_variant SKCM-US 8 38133817 38133817 single base substitution A G exon_variant SKCM-US 8 38133817 38133817 single base substitution A G missense_variant Y1308H 3922T>C SKCM-US 8 38133817 38133817 single base substitution A G missense_variant Y1346H 4036T>C SKCM-US 8 38133817 38133817 single base substitution A G missense_variant Y1357H 4069T>C SKCM-US 8 38133953 38133953 single base substitution C T exon_variant SKCM-US 8 38133953 38133953 single base substitution C T synonymous_variant K1262K 3786G>A SKCM-US 8 38133953 38133953 single base substitution C T synonymous_variant K1300K 3900G>A SKCM-US 8 38133953 38133953 single base substitution C T synonymous_variant K1311K 3933G>A SKCM-US 8 38146118 38146118 single base substitution C T downstream_gene_variant SKCM-US 8 38146118 38146118 single base substitution C T missense_variant A1081T 3241G>A SKCM-US 8 38146118 38146118 single base substitution C T missense_variant A1130T 3388G>A SKCM-US 8 38146187 38146187 single base substitution G A downstream_gene_variant SKCM-US 8 38146187 38146187 single base substitution G A missense_variant P1058S 3172C>T SKCM-US 8 38146187 38146187 single base substitution G A missense_variant P1107S 3319C>T SKCM-US 8 38157053 38157053 single base substitution G A exon_variant SKCM-US 8 38157053 38157053 single base substitution G A intron_variant SKCM-US 8 38157053 38157053 single base substitution G A synonymous_variant S889S 2667C>T SKCM-US 8 38184340 38184340 single base substitution C A missense_variant G539V 1616G>T SKCM-US 8 38184340 38184340 single base substitution C A missense_variant G5V 14G>T SKCM-US 8 38187031 38187031 single base substitution G A synonymous_variant S482S 1446C>T SKCM-US 8 38187031 38187031 single base substitution G A upstream_gene_variant SKCM-US 8 38187400 38187400 single base substitution G A synonymous_variant P359P 1077C>T SKCM-US 8 38187400 38187400 single base substitution G A upstream_gene_variant SKCM-US 8 38189091 38189091 single base substitution T A missense_variant Y308F 923A>T SKCM-US 8 38189091 38189091 single base substitution T A upstream_gene_variant SKCM-US 8 38196056 38196056 single base substitution G A missense_variant P249S 745C>T SKCM-US 8 38205261 38205261 single base substitution C A downstream_gene_variant SKCM-US 8 38205261 38205261 single base substitution C A synonymous_variant V143V 429G>T STAD-US 8 38123659 38123659 single base substitution C A downstream_gene_variant STAD-US 8 38126504 38126504 single base substitution T C downstream_gene_variant STAD-US 8 38133883 38133883 single base substitution T C exon_variant STAD-US 8 38133883 38133883 single base substitution T C missense_variant M1286V 3856A>G STAD-US 8 38133883 38133883 single base substitution T C missense_variant M1324V 3970A>G STAD-US 8 38133883 38133883 single base substitution T C missense_variant M1335V 4003A>G STAD-US 8 38133958 38133958 single base substitution G A exon_variant STAD-US 8 38133958 38133958 single base substitution G A stop_gained R1261* 3781C>T STAD-US 8 38133958 38133958 single base substitution G A stop_gained R1299* 3895C>T STAD-US 8 38133958 38133958 single base substitution G A stop_gained R1310* 3928C>T STAD-US 8 38135877 38135877 single base substitution C G exon_variant STAD-US 8 38135877 38135877 single base substitution C G missense_variant E1223Q 3667G>C STAD-US 8 38135877 38135877 single base substitution C G missense_variant E1261Q 3781G>C STAD-US 8 38135877 38135877 single base substitution C G missense_variant E1272Q 3814G>C STAD-US 8 38139039 38139039 single base substitution G T synonymous_variant I1139I 3417C>A STAD-US 8 38139039 38139039 single base substitution G T synonymous_variant I1188I 3564C>A STAD-US 8 38139039 38139039 single base substitution G T upstream_gene_variant STAD-US 8 38139077 38139077 single base substitution C T missense_variant G1127S 3379G>A STAD-US 8 38139077 38139077 single base substitution C T missense_variant G1176S 3526G>A STAD-US 8 38139077 38139077 single base substitution C T upstream_gene_variant STAD-US 8 38146075 38146075 single base substitution T C downstream_gene_variant STAD-US 8 38146075 38146075 single base substitution T C missense_variant Y1095C 3284A>G STAD-US 8 38146075 38146075 single base substitution T C missense_variant Y1144C 3431A>G STAD-US 8 38146168 38146168 single base substitution T C downstream_gene_variant STAD-US 8 38146168 38146168 single base substitution T C missense_variant E1064G 3191A>G STAD-US 8 38146168 38146168 single base substitution T C missense_variant E1113G 3338A>G STAD-US 8 38146945 38146945 insertion of <=200bp - T exon_variant STAD-US 8 38146945 38146945 insertion of <=200bp - T frameshift_variant N1017K? STAD-US 8 38146945 38146945 insertion of <=200bp - T frameshift_variant N1066K? STAD-US 8 38178604 38178606 deletion of <=200bp TCT - disruptive_inframe_deletion KI598I STAD-US 8 38178604 38178606 deletion of <=200bp TCT - disruptive_inframe_deletion KI64I STAD-US 8 38178604 38178606 deletion of <=200bp TCT - upstream_gene_variant STAD-US 8 38178634 38178635 deletion of <=200bp TC - frameshift_variant EK54 STAD-US 8 38178634 38178635 deletion of <=200bp TC - frameshift_variant EK588 STAD-US 8 38178634 38178635 deletion of <=200bp TC - upstream_gene_variant STAD-US 8 38187222 38187222 deletion of <=200bp T - frameshift_variant T419 STAD-US 8 38187222 38187222 deletion of <=200bp T - upstream_gene_variant STAD-US 8 38187222 38187222 insertion of <=200bp - T frameshift_variant T419N? STAD-US 8 38187222 38187222 insertion of <=200bp - T upstream_gene_variant STAD-US 8 38189055 38189055 single base substitution G A missense_variant A320V 959C>T STAD-US 8 38189055 38189055 single base substitution G A upstream_gene_variant STAD-US 8 38194920 38194920 single base substitution G A synonymous_variant G271G 813C>T STAD-US 8 38205092 38205092 deletion of <=200bp T - downstream_gene_variant STAD-US 8 38205092 38205092 deletion of <=200bp T - frameshift_variant S200 STAD-US 8 38205098 38205098 single base substitution T C downstream_gene_variant STAD-US 8 38205098 38205098 single base substitution T C missense_variant K198E 592A>G STAD-US 8 38205208 38205209 deletion of <=200bp AT - downstream_gene_variant STAD-US 8 38205208 38205209 deletion of <=200bp AT - frameshift_variant I161 STAD-US 8 38205365 38205365 single base substitution T C downstream_gene_variant STAD-US 8 38205365 38205365 single base substitution T C missense_variant T109A 325A>G STAD-US 8 38205606 38205606 single base substitution G A downstream_gene_variant STAD-US 8 38205606 38205606 single base substitution G A synonymous_variant I28I 84C>T THCA-US 8 38187086 38187086 single base substitution G A missense_variant P464L 1391C>T THCA-US 8 38187086 38187086 single base substitution G A upstream_gene_variant THCA-US 8 38205277 38205277 single base substitution G A downstream_gene_variant THCA-US 8 38205277 38205277 single base substitution G A missense_variant S138L 413C>T UCEC-US 8 38133958 38133958 single base substitution G A exon_variant UCEC-US 8 38133958 38133958 single base substitution G A stop_gained R1261* 3781C>T UCEC-US 8 38133958 38133958 single base substitution G A stop_gained R1299* 3895C>T UCEC-US 8 38133958 38133958 single base substitution G A stop_gained R1310* 3928C>T UCEC-US 8 38146045 38146045 single base substitution C T downstream_gene_variant UCEC-US 8 38146045 38146045 single base substitution C T missense_variant R1105Q 3314G>A UCEC-US 8 38146045 38146045 single base substitution C T missense_variant R1154Q 3461G>A UCEC-US 8 38146081 38146081 single base substitution C A downstream_gene_variant UCEC-US 8 38146081 38146081 single base substitution C A missense_variant R1093I 3278G>T UCEC-US 8 38146081 38146081 single base substitution C A missense_variant R1142I 3425G>T UCEC-US 8 38146958 38146958 single base substitution C A exon_variant UCEC-US 8 38146958 38146958 single base substitution C A stop_gained E1013* 3037G>T UCEC-US 8 38146958 38146958 single base substitution C A stop_gained E1062* 3184G>T UCEC-US 8 38148019 38148019 single base substitution G A exon_variant UCEC-US 8 38148019 38148019 single base substitution G A missense_variant T1031I 3092C>T UCEC-US 8 38148019 38148019 single base substitution G A missense_variant T982I 2945C>T UCEC-US 8 38156991 38156991 single base substitution G A exon_variant UCEC-US 8 38156991 38156991 single base substitution G A intron_variant UCEC-US 8 38156991 38156991 single base substitution G A missense_variant S910L 2729C>T UCEC-US 8 38162250 38162250 single base substitution A T stop_gained C822* 2466T>A UCEC-US 8 38162250 38162250 single base substitution A T upstream_gene_variant UCEC-US 8 38162846 38162846 single base substitution A G missense_variant F787S 2360T>C UCEC-US 8 38173512 38173512 single base substitution C T downstream_gene_variant UCEC-US 8 38173512 38173512 single base substitution C T missense_variant R635H 1904G>A UCEC-US 8 38178677 38178677 single base substitution C A missense_variant K40N 120G>T UCEC-US 8 38178677 38178677 single base substitution C A missense_variant K574N 1722G>T UCEC-US 8 38178677 38178677 single base substitution C A upstream_gene_variant UCEC-US 8 38187182 38187182 single base substitution T G missense_variant Q432P 1295A>C UCEC-US 8 38187182 38187182 single base substitution T G upstream_gene_variant UCEC-US 8 38187256 38187256 single base substitution T G missense_variant K407N 1221A>C UCEC-US 8 38187256 38187256 single base substitution T G upstream_gene_variant UCEC-US 8 38187283 38187283 single base substitution C T synonymous_variant Q398Q 1194G>A UCEC-US 8 38187283 38187283 single base substitution C T upstream_gene_variant UCEC-US 8 38187309 38187309 single base substitution A G missense_variant Y390H 1168T>C UCEC-US 8 38187309 38187309 single base substitution A G upstream_gene_variant UCEC-US 8 38189004 38189004 single base substitution T G missense_variant E337A 1010A>C UCEC-US 8 38189004 38189004 single base substitution T G upstream_gene_variant UCEC-US 8 38194895 38194895 single base substitution T G missense_variant T280P 838A>C UCEC-US 8 38194927 38194927 single base substitution T C missense_variant Q269R 806A>G UCEC-US 8 38196054 38196054 single base substitution T C splice_region_variant UCEC-US 8 38196100 38196100 single base substitution A G missense_variant V234A 701T>C UCEC-US 8 38205429 38205429 single base substitution C T downstream_gene_variant UCEC-US 8 38205429 38205429 single base substitution C T synonymous_variant Q87Q 261G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand CLL151 COSM1292687 c.3694A>G p.T1232A Substitution - Missense 8:38279606-38279606 - TCGA-EK-A3GK-01 COSM4853304 c.434C>T p.P145L Substitution - Missense 8:38347738-38347738 - I2L-P7-Tumor-Organoid COSM2960308 c.1373C>T p.A458V Substitution - Missense 8:38329586-38329586 - TCGA-61-1722-01 COSM1330995 c.3186G>A p.E1062E Substitution - coding silent 8:38289438-38289438 - TCGA-B0-4839-01 COSM3367340 c.287C>A p.S96* Substitution - Nonsense 8:38347885-38347885 - Au3 COSM5602608 c.1211C>T p.S404F Substitution - Missense 8:38329748-38329748 - TCGA-AP-A051-01 COSM1099595 c.838A>C p.T280P Substitution - Missense 8:38337377-38337377 - TCGA-66-2785-01 COSM750469 c.1309G>C p.E437Q Substitution - Missense 8:38329650-38329650 - TCGA-AC-A23H-01 COSM3834657 c.2042C>T p.S681F Substitution - Missense 8:38315489-38315489 - SNU-175 COSM2960229 c.4101C>T p.C1367C Substitution - coding silent 8:38275854-38275854 - TCGA-27-2518 COSM2157278 c.3042C>T p.G1014G Substitution - coding silent 8:38290551-38290551 - B74-Tumor COSM1757240 c.2116-1G>A p.? Unknown 8:38314774-38314774 - CHC326T COSM4951286 c.800A>C p.K267T Substitution - Missense 8:38337415-38337415 - TCGA-AP-A056-01 COSM1099584 c.1295A>C p.Q432P Substitution - Missense 8:38329664-38329664 - BD49T COSM5497914 c.1070G>A p.R357Q Substitution - Missense 8:38329889-38329889 - TCGA-BR-4256-01 COSM3899961 c.3526G>A p.G1176S Substitution - Missense 8:38281559-38281559 - QC2-03-T2 COSM5651744 c.1311G>A p.E437E Substitution - coding silent 8:38329648-38329648 - TCGA-66-2768-01 COSM750462 c.121G>A p.A41T Substitution - Missense 8:38348051-38348051 - HCC066T COSM5821487 c.842A>T p.Y281F Substitution - Missense 8:38337373-38337373 - 450 COSM4435681 c.3394G>T p.D1132Y Substitution - Missense 8:38288594-38288594 - CSCC-40-T COSM4546364 c.3992G>A p.G1331E Substitution - Missense 8:38276376-38276376 - Pat_63_B COSM5874647 c.4109G>A p.C1370Y Substitution - Missense 8:38275846-38275846 - TCGA-AP-A056-01 COSM1099583 c.1722G>T p.K574N Substitution - Missense 8:38321159-38321159 - PD4252a COSM165605 c.196C>G p.L66V Substitution - Missense 8:38347976-38347976 - 2011-2344:2012-333-T COSM4605749 c.66C>T p.L22L Substitution - coding silent 8:38348106-38348106 - TCGA-EE-A2GD-06 COSM3648828 c.923A>T p.Y308F Substitution - Missense 8:38331573-38331573 - C80 COSM4619912 c.558G>A p.T186T Substitution - coding silent 8:38347614-38347614 - TCGA-B5-A11N-01 COSM1099579 c.2729C>T p.S910L Substitution - Missense 8:38299473-38299473 - TCGA-B5-A0K6-01 COSM1099601 c.701T>C p.V234A Substitution - Missense 8:38338582-38338582 - U2940 COSM5622185 c.112A>C p.S38R Substitution - Missense 8:38348060-38348060 - TCGA-AP-A056-01 COSM1099599 c.747A>G p.P249P Substitution - coding silent 8:38338536-38338536 - TCGA-AZ-6598-01 COSM1456895 c.2989delG p.D997fs*55 Deletion - Frameshift 8:38290604-38290604 - TCGA-GN-A269-01 COSM3648830 c.745C>T p.P249S Substitution - Missense 8:38338538-38338538 - TCGA-BR-6452-01 COSM3899973 c.84C>T p.I28I Substitution - coding silent 8:38348088-38348088 - 2492721 COSM5723923 c.2504C>T p.A835V Substitution - Missense 8:38304694-38304694 - 2171680 COSM4423522 c.1052C>G p.S351C Substitution - Missense 8:38331444-38331444 - ESO-151 COSM1270465 c.1261C>T p.R421* Substitution - Nonsense 8:38329698-38329698 - TCGA-A5-A0GI-01 COSM1099603 c.261G>A p.Q87Q Substitution - coding silent 8:38347911-38347911 - ESO-0292 COSM1241900 c.2615T>G p.L872R Substitution - Missense 8:38299587-38299587 - TCGA-60-2726-01 COSM750476 c.2608A>T p.R870* Substitution - Nonsense 8:38304590-38304590 - TCGA-HC-7740-01 COSM1472117 c.2623C>T p.Q875* Substitution - Nonsense 8:38299579-38299579 - TCGA-EB-A57M-01 COSM3648821 c.3388G>A p.A1130T Substitution - Missense 8:38288600-38288600 - TCGA-AX-A063-01 COSM1099591 c.1168T>C p.Y390H Substitution - Missense 8:38329791-38329791 - 2171680 COSM4423521 c.1052C>G p.S351C Substitution - Missense 8:38331444-38331444 - T3092 COSM4741217 c.245C>T p.T82I Substitution - Missense 8:38347927-38347927 - TCGA-HU-A4G8-01 COSM3899967 c.813C>T p.G271G Substitution - coding silent 8:38337402-38337402 - BD6T COSM5499011 c.1629T>C p.L543L Substitution - coding silent 8:38326809-38326809 - I2L-P7-Tumor-Organoid COSM5358982 c.4071T>C p.Y1357Y Substitution - coding silent 8:38276297-38276297 - 587376 COSM1232754 c.1690G>T p.A564S Substitution - Missense 8:38326748-38326748 - 2492711 COSM5718660 c.2573C>T p.S858F Substitution - Missense 8:38304625-38304625 - TCGA-GN-A269-01 COSM3648831 c.745C>T p.P249S Substitution - Missense 8:38338538-38338538 - 61 COSM5738320 c.1826A>G p.Q609R Substitution - Missense 8:38318924-38318924 - TCGA-HU-A4GN-01 COSM3899970 c.325A>G p.T109A Substitution - Missense 8:38347847-38347847 - CLL109 COSM1292688 c.550G>A p.E184K Substitution - Missense 8:38347622-38347622 - SNU-C4 COSM4654385 c.3807C>T p.G1269G Substitution - coding silent 8:38278366-38278366 - TCGA-22-1002-01 COSM750482 c.3442G>A p.E1148K Substitution - Missense 8:38288546-38288546 - 1874580 COSM1235022 c.2399C>G p.S800C Substitution - Missense 8:38305289-38305289 - TCGA-AD-6888-01 COSM1456894 c.3568C>T p.R1190* Substitution - Nonsense 8:38281517-38281517 - TCGA-AZ-4315-01 COSM1456900 c.115G>A p.D39N Substitution - Missense 8:38348057-38348057 - HCC066T COSM5821486 c.842A>T p.Y281F Substitution - Missense 8:38337373-38337373 - 61 COSM5497913 c.1070G>A p.R357Q Substitution - Missense 8:38329889-38329889 - TCGA-C5-A1MK-01 COSM4827199 c.21C>G p.F7L Substitution - Missense 8:38348151-38348151 - PD22365a COSM5790702 c.856T>G p.C286G Substitution - Missense 8:38337359-38337359 - CSCC-10-T COSM4466645 c.1445C>T p.S482F Substitution - Missense 8:38329514-38329514 - TCGA-AX-A0J0-01 COSM1099586 c.1221A>C p.K407N Substitution - Missense 8:38329738-38329738 - TCGA-B7-5816-01 COSM750483 c.3928C>T p.R1310* Substitution - Nonsense 8:38276440-38276440 - HCC2998 COSM2960349 c.15C>A p.F5L Substitution - Missense 8:38348157-38348157 - HCC69T COSM1623989 c.977G>C p.R326P Substitution - Missense 8:38331519-38331519 - 2011-2344:2012-333-T COSM4606207 c.9C>G p.F3L Substitution - Missense 8:38348163-38348163 - PD6404a COSM5768830 c.17C>A p.S6Y Substitution - Missense 8:38348155-38348155 - 2290930 COSM4440159 c.4022G>A p.C1341Y Substitution - Missense 8:38276346-38276346 - S01297 COSM5667785 c.1203G>T p.E401D Substitution - Missense 8:38329756-38329756 - HN_62374 COSM130215 c.2191G>A p.G731R Substitution - Missense 8:38314698-38314698 - 3N23-VS-3T23 COSM4979633 c.1320C>T p.S440S Substitution - coding silent 8:38329639-38329639 - B74 COSM1757240 c.2116-1G>A p.? Unknown 8:38314774-38314774 - 2492713 COSM5718660 c.2573C>T p.S858F Substitution - Missense 8:38304625-38304625 - T3090 COSM4741215 c.1255_1256insA p.T419fs*28 Insertion - Frameshift 8:38329703-38329704 - TCGA-EI-6917-01 COSM3432406 c.2261C>T p.S754L Substitution - Missense 8:38305427-38305427 - 19M COSM5579992 c.99C>T p.A33A Substitution - coding silent 8:38348073-38348073 - TCGA-AX-A0J0-01 COSM1099596 c.806A>G p.Q269R Substitution - Missense 8:38337409-38337409 - TCGA-B5-A0K9-01 COSM1099578 c.2792C>A p.A931D Substitution - Missense 8:38295919-38295919 - TCGA-EL-A3T2-01 COSM3374914 c.1391C>T p.P464L Substitution - Missense 8:38329568-38329568 - 40M COSM2960275 c.1959C>T p.S653S Substitution - coding silent 8:38315939-38315939 - SH-3000 COSM5018570 c.1859C>G p.S620W Substitution - Missense 8:38318035-38318035 - PD22365a COSM5790696 c.854C>A p.P285H Substitution - Missense 8:38337361-38337361 - TCGA-AA-A010-01 COSM286533 c.2397C>T p.C799C Substitution - coding silent 8:38305291-38305291 - RK234_C01 COSM4945008 c.838A>T p.T280S Substitution - Missense 8:38337377-38337377 - Pat_01_B COSM5874649 c.1960G>A p.D654N Substitution - Missense 8:38315938-38315938 - I2L-P7-Tumor-Organoid COSM2960309 c.1373C>T p.A458V Substitution - Missense 8:38329586-38329586 - RK107_C01 COSM1635780 c.1594A>T p.K532* Substitution - Nonsense 8:38326844-38326844 - CSCC-20-T COSM4466417 c.1433C>T p.S478F Substitution - Missense 8:38329526-38329526 - TCGA-AP-A051-01 COSM1099580 c.2466T>A p.C822* Substitution - Nonsense 8:38304732-38304732 - HCC69T COSM1623988 c.977G>C p.R326P Substitution - Missense 8:38331519-38331519 - PT44 COSM5436736 c.2338C>T p.R780C Substitution - Missense 8:38305350-38305350 - TCGA-CA-6718-01 COSM1456893 c.4309G>T p.E1437* Substitution - Nonsense 8:38275646-38275646 - 2492712 COSM5718660 c.2573C>T p.S858F Substitution - Missense 8:38304625-38304625 - TCGA-CG-4466-01 COSM3899960 c.3564C>A p.I1188I Substitution - coding silent 8:38281521-38281521 - TCGA-BR-6452-01 COSM3899965 c.959C>T p.A320V Substitution - Missense 8:38331537-38331537 - TCGA-BR-6452-01 COSM3899972 c.84C>T p.I28I Substitution - coding silent 8:38348088-38348088 - Pat_16_A COSM5874650 c.598delA p.S200fs*20 Deletion - Frameshift 8:38347574-38347574 - TCGA-E2-A2P5-01 COSM3834658 c.1086G>A p.Q362Q Substitution - coding silent 8:38329873-38329873 - TCGA-A3-3357-01 COSM486434 c.928G>T p.V310F Substitution - Missense 8:38331568-38331568 - TCGA-HU-A4GN-01 COSM3899958 c.4003A>G p.M1335V Substitution - Missense 8:38276365-38276365 - ccRCC-12 COSM1665030 c.594A>T p.K198N Substitution - Missense 8:38347578-38347578 - 587342 COSM1232751 c.2183A>G p.E728G Substitution - Missense 8:38314706-38314706 - PAPNNX COSM2960256 c.2693G>A p.R898H Substitution - Missense 8:38299509-38299509 - STC291 COSM5063184 c.697A>G p.T233A Substitution - Missense 8:38338586-38338586 - TCGA-39-5016-01 COSM750465 c.960G>T p.A320A Substitution - coding silent 8:38331536-38331536 - PDA_009 COSM4998333 c.1043G>T p.S348I Substitution - Missense 8:38331453-38331453 - TCGA-BR-4361-01 COSM3899962 c.3431A>G p.Y1144C Substitution - Missense 8:38288557-38288557 - 193 COSM1741775 c.1507A>G p.I503V Substitution - Missense 8:38329452-38329452 - TCGA-CH-5792-01 COSM486429 c.2339G>A p.R780H Substitution - Missense 8:38305349-38305349 - TCGA-B5-A0JZ-01 COSM1099588 c.1194G>A p.Q398Q Substitution - coding silent 8:38329765-38329765 - HT115 COSM2960302 c.1531A>G p.N511D Substitution - Missense 8:38329428-38329428 - TCGA-85-6560-01 COSM750477 c.2660A>G p.Y887C Substitution - Missense 8:38299542-38299542 - Gp2D COSM1643597 c.1255delA p.T419fs*8 Deletion - Frameshift 8:38329704-38329704 - TCGA-FW-A3R5-06 COSM3925249 c.1077C>T p.P359P Substitution - coding silent 8:38329882-38329882 - CHC892T COSM4796215 c.1843G>A p.G615R Substitution - Missense 8:38318907-38318907 - TCGA-ER-A2NH-06 COSM3648833 c.429G>T p.V143V Substitution - coding silent 8:38347743-38347743 - TCGA-39-5031-01 COSM750478 c.2830G>A p.E944K Substitution - Missense 8:38295881-38295881 - HCC2998 COSM2960348 c.15C>A p.F5L Substitution - Missense 8:38348157-38348157 - COLO678 COSM2960243 c.3727G>C p.V1243L Substitution - Missense 8:38279573-38279573 - S02234 COSM5676315 c.1581+1G>A p.? Unknown 8:38329377-38329377 - ESCC_BICR_055T COSM5436736 c.2338C>T p.R780C Substitution - Missense 8:38305350-38305350 - TCGA-MH-A55W-01 COSM3996045 c.2316A>G p.K772K Substitution - coding silent 8:38305372-38305372 - TCGA-B5-A0K6-01 COSM1099600 c.701T>C p.V234A Substitution - Missense 8:38338582-38338582 - HT115 COSM2960231 c.3963A>G p.E1321E Substitution - coding silent 8:38276405-38276405 - WA48 COSM238442 c.3795T>C p.C1265C Substitution - coding silent 8:38278378-38278378 - 587222 COSM1232748 c.736G>T p.E246* Substitution - Nonsense 8:38338547-38338547 - PD4134a COSM165603 c.1192C>A p.Q398K Substitution - Missense 8:38329767-38329767 - TCGA-B5-A0JZ-01 COSM1099589 c.1194G>A p.Q398Q Substitution - coding silent 8:38329765-38329765 - BN06T COSM1623987 c.3291_3295delCTGTA p.C1098fs*5 Deletion - Frameshift 8:38288693-38288697 - Pat_45_A COSM5874648 c.3488G>A p.R1163K Substitution - Missense 8:38288500-38288500 - TCGA-FW-A3R5-06 COSM3925248 c.1077C>T p.P359P Substitution - coding silent 8:38329882-38329882 - PD4252a COSM165604 c.196C>G p.L66V Substitution - Missense 8:38347976-38347976 - CSCC-59-T COSM4539496 c.2693G>T p.R898L Substitution - Missense 8:38299509-38299509 - TCGA-DD-A39Y-01 COSM4934596 c.1753T>C p.S585P Substitution - Missense 8:38321128-38321128 - S01297 COSM5667784 c.1203G>T p.E401D Substitution - Missense 8:38329756-38329756 - TCGA-BG-A0M4-01 COSM1099581 c.2360T>C p.F787S Substitution - Missense 8:38305328-38305328 - HCC69 COSM1623989 c.977G>C p.R326P Substitution - Missense 8:38331519-38331519 - TCGA-DD-A4NP-01 COSM4929077 c.4191T>A p.S1397S Substitution - coding silent 8:38275764-38275764 - TCGA-ER-A2NH-06 COSM3648832 c.429G>T p.V143V Substitution - coding silent 8:38347743-38347743 - 61 COSM5497914 c.1070G>A p.R357Q Substitution - Missense 8:38329889-38329889 - CSCC-10-T COSM4466644 c.1445C>T p.S482F Substitution - Missense 8:38329514-38329514 - TCGA-AZ-4315-01 COSM1456899 c.115G>A p.D39N Substitution - Missense 8:38348057-38348057 - HT115 COSM2960303 c.1531A>G p.N511D Substitution - Missense 8:38329428-38329428 - TCGA-AP-A056-01 COSM1099598 c.747A>G p.P249P Substitution - coding silent 8:38338536-38338536 - TCGA-GN-A266-06 COSM3648822 c.3319C>T p.P1107S Substitution - Missense 8:38288669-38288669 - PT20_2 COSM5900744 c.1616G>A p.G539E Substitution - Missense 8:38326822-38326822 - TCGA-33-4538-01 COSM750472 c.1552T>C p.F518L Substitution - Missense 8:38329407-38329407 - TCGA-AP-A056-01 COSM1099582 c.1722G>T p.K574N Substitution - Missense 8:38321159-38321159 - TCGA-AX-A0J0-01 COSM1099587 c.1221A>C p.K407N Substitution - Missense 8:38329738-38329738 - CMLPh-008 COSM1235022 c.2399C>G p.S800C Substitution - Missense 8:38305289-38305289 - TCGA-AX-A05Z-01 COSM1099575 c.3425G>T p.R1142I Substitution - Missense 8:38288563-38288563 - SJDES014-R1 COSM4588091 c.2101G>T p.D701Y Substitution - Missense 8:38315430-38315430 - TCGA-BP-4982-01 COSM486430 c.1891A>G p.K631E Substitution - Missense 8:38316007-38316007 - RK001_C01 COSM1635779 c.2314A>G p.K772E Substitution - Missense 8:38305374-38305374 - TCGA-EI-6917-01 COSM2960278 c.1903C>T p.R635C Substitution - Missense 8:38315995-38315995 - B22-Tumor COSM1755710 c.3184G>C p.E1062Q Substitution - Missense 8:38289440-38289440 - 587376 COSM1232753 c.1690G>T p.A564S Substitution - Missense 8:38326748-38326748 - ESCC_91 COSM5636966 c.1679C>T p.S560L Substitution - Missense 8:38326759-38326759 - TCGA-B5-A11Z-01 COSM1099592 c.1010A>C p.E337A Substitution - Missense 8:38331486-38331486 - CSCC-20-T COSM4454047 c.3963A>C p.E1321D Substitution - Missense 8:38276405-38276405 - TCGA-AN-A046-01 COSM3834655 c.2466T>C p.C822C Substitution - coding silent 8:38304732-38304732 - SC_9029 COSM5570606 c.3512T>G p.V1171G Substitution - Missense 8:38281573-38281573 - LUAD-LIP77 COSM342617 c.721G>T p.E241* Substitution - Nonsense 8:38338562-38338562 - LP6005690-DNA_C01 COSM4409285 c.2038G>A p.V680I Substitution - Missense 8:38315493-38315493 - 8036161 COSM3395311 c.886G>T p.V296F Substitution - Missense 8:38337329-38337329 - PTC-28C COSM4162976 c.3969C>A p.Y1323* Substitution - Nonsense 8:38276399-38276399 - 587222 COSM1232747 c.736G>T p.E246* Substitution - Nonsense 8:38338547-38338547 - U2940 COSM5622186 c.112A>C p.S38R Substitution - Missense 8:38348060-38348060 - TCGA-EI-6917-01 COSM3432405 c.3003C>A p.F1001L Substitution - Missense 8:38290590-38290590 - TCGA-39-5030-01 COSM750470 c.1336G>C p.E446Q Substitution - Missense 8:38329623-38329623 - LUAD-LIP77 COSM342618 c.721G>T p.E241* Substitution - Nonsense 8:38338562-38338562 - TCGA-E2-A2P5-01 COSM3834659 c.1086G>A p.Q362Q Substitution - coding silent 8:38329873-38329873 - TCGA-EK-A3GK-01 COSM4853305 c.434C>T p.P145L Substitution - Missense 8:38347738-38347738 - TCGA-EE-A29V-06 COSM3648820 c.3933G>A p.K1311K Substitution - coding silent 8:38276435-38276435 - Gp5D COSM2960246 c.3361T>C p.Y1121H Substitution - Missense 8:38288627-38288627 - TCGA-EW-A1PC-01 COSM3834656 c.2052G>A p.Q684Q Substitution - coding silent 8:38315479-38315479 - AOCS-139-1-5 COSM4151076 c.2102A>G p.D701G Substitution - Missense 8:38315429-38315429 - TCGA-BJ-A2NA-01 COSM3374917 c.413C>T p.S138L Substitution - Missense 8:38347759-38347759 - BD124T COSM5492375 c.3961G>T p.E1321* Substitution - Nonsense 8:38276407-38276407 - CSCC-60-T COSM4461601 c.1212C>T p.S404S Substitution - coding silent 8:38329747-38329747 - EGC15 COSM750483 c.3928C>T p.R1310* Substitution - Nonsense 8:38276440-38276440 - T3094 COSM4741213 c.1392G>A p.P464P Substitution - coding silent 8:38329567-38329567 - HCC152T COSM3663752 c.2581A>G p.N861D Substitution - Missense 8:38304617-38304617 - T3090 COSM4741216 c.1255_1256insA p.T419fs*28 Insertion - Frameshift 8:38329703-38329704 - 1191-01-02TD COSM1292687 c.3694A>G p.T1232A Substitution - Missense 8:38279606-38279606 - TCGA-AD-6895-01 COSM1099572 c.3929G>A p.R1310Q Substitution - Missense 8:38276439-38276439 - TCGA-EB-A3XD-01 COSM3648827 c.1446C>T p.S482S Substitution - coding silent 8:38329513-38329513 - 8066497 COSM3785988 c.3713A>G p.N1238S Substitution - Missense 8:38279587-38279587 - 61 COSM5738319 c.1826A>G p.Q609R Substitution - Missense 8:38318924-38318924 - SW48 COSM2960234 c.3905delA p.N1302fs*4 Deletion - Frameshift 8:38276463-38276463 - TCGA-66-2759-01 COSM750483 c.3928C>T p.R1310* Substitution - Nonsense 8:38276440-38276440 - 251 COSM1741904 c.2477A>G p.Y826C Substitution - Missense 8:38304721-38304721 - RK107_C01 COSM1635781 c.1594A>T p.K532* Substitution - Nonsense 8:38326844-38326844 - B22 COSM1755710 c.3184G>C p.E1062Q Substitution - Missense 8:38289440-38289440 - CHC892T COSM4796215 c.1843G>A p.G615R Substitution - Missense 8:38318907-38318907 - ESCC_131 COSM5642307 c.146A>T p.Y49F Substitution - Missense 8:38348026-38348026 - BD22T COSM5508847 c.545C>G p.A182G Substitution - Missense 8:38347627-38347627 - TCGA-D1-A167-01 COSM1099573 c.3461G>A p.R1154Q Substitution - Missense 8:38288527-38288527 - PT21_2 COSM5901578 c.484C>T p.Q162* Substitution - Nonsense 8:38347688-38347688 - 587284 COSM1232750 c.631C>T p.R211C Substitution - Missense 8:38347541-38347541 - TCGA-DK-A1AC-01 COSM1314028 c.2980G>A p.D994N Substitution - Missense 8:38290613-38290613 - TCGA-EI-6917-01 COSM3432404 c.3724C>T p.R1242* Substitution - Nonsense 8:38279576-38279576 - PT21_2 COSM5901577 c.484C>T p.Q162* Substitution - Nonsense 8:38347688-38347688 - TCGA-D1-A174-01 COSM750474 c.1904G>A p.R635H Substitution - Missense 8:38315994-38315994 - TCGA-CG-4442-01 COSM3899968 c.592A>G p.K198E Substitution - Missense 8:38347580-38347580 - TCGA-C5-A1MK-01 COSM4827198 c.21C>G p.F7L Substitution - Missense 8:38348151-38348151 - TCGA-EE-A3AB-06 COSM3648819 c.4069T>C p.Y1357H Substitution - Missense 8:38276299-38276299 - TCGA-B0-5094-01 COSM486432 c.1418C>T p.A473V Substitution - Missense 8:38329541-38329541 - CHC326T COSM4951285 c.800A>C p.K267T Substitution - Missense 8:38337415-38337415 - TCGA-D3-A1QA-06 COSM3648824 c.1616G>T p.G539V Substitution - Missense 8:38326822-38326822 - TCGA-E2-A1II-01 COSM1489269 c.2291G>A p.R764H Substitution - Missense 8:38305397-38305397 - TCGA-66-2785-01 COSM750468 c.1309G>C p.E437Q Substitution - Missense 8:38329650-38329650 - T3094 COSM4741214 c.1392G>A p.P464P Substitution - coding silent 8:38329567-38329567 - 2492723 COSM5723923 c.2504C>T p.A835V Substitution - Missense 8:38304694-38304694 - TCGA-21-5784-01 COSM750466 c.1126G>A p.E376K Substitution - Missense 8:38329833-38329833 - TCGA-AO-A1KS-01 COSM1099573 c.3461G>A p.R1154Q Substitution - Missense 8:38288527-38288527 - CHC326T COSM4951285 c.800A>C p.K267T Substitution - Missense 8:38337415-38337415 - YUGATOR COSM5409544 c.2443C>T p.R815C Substitution - Missense 8:38304755-38304755 - T3092 COSM4741218 c.245C>T p.T82I Substitution - Missense 8:38347927-38347927 - 2492720 COSM5723923 c.2504C>T p.A835V Substitution - Missense 8:38304694-38304694 - Pat_41_B COSM2960251 c.3080C>T p.A1027V Substitution - Missense 8:38290513-38290513 - HCC91 COSM1623986 c.3303G>T p.K1101N Substitution - Missense 8:38288685-38288685 - SNU-C2B COSM2960250 c.3197delA p.N1066fs*16 Deletion - Frameshift 8:38289427-38289427 - 193 COSM1741774 c.1507A>G p.I503V Substitution - Missense 8:38329452-38329452 - ccRCC-12 COSM1665031 c.594A>T p.K198N Substitution - Missense 8:38347578-38347578 - TCGA-BP-4963-01 COSM486427 c.3767A>C p.E1256A Substitution - Missense 8:38278406-38278406 - TCGA-CG-4442-01 COSM3899969 c.592A>G p.K198E Substitution - Missense 8:38347580-38347580 - TCGA-E9-A247-01 COSM1489270 c.1934C>G p.S645* Substitution - Nonsense 8:38315964-38315964 - TCGA-DK-A1AF-01 COSM1314029 c.1943G>C p.R648T Substitution - Missense 8:38315955-38315955 - TCGA-A3-3357-01 COSM486435 c.928G>T p.V310F Substitution - Missense 8:38331568-38331568 - C80 COSM4619911 c.558G>A p.T186T Substitution - coding silent 8:38347614-38347614 - TCGA-AN-A046-01 COSM3834654 c.2598C>T p.F866F Substitution - coding silent 8:38304600-38304600 - ESCC_131 COSM5642308 c.146A>T p.Y49F Substitution - Missense 8:38348026-38348026 - TCGA-39-5030-01 COSM750471 c.1336G>C p.E446Q Substitution - Missense 8:38329623-38329623 - TCGA-B5-A11E-01 COSM750483 c.3928C>T p.R1310* Substitution - Nonsense 8:38276440-38276440 - ESO-0149 COSM1270463 c.3564C>G p.I1188M Substitution - Missense 8:38281521-38281521 - CSCC-60-T COSM4461600 c.1212C>T p.S404S Substitution - coding silent 8:38329747-38329747 - 8047893 COSM3395312 c.222A>G p.P74P Substitution - coding silent 8:38347950-38347950 - TCGA-EE-A2GD-06 COSM3648829 c.923A>T p.Y308F Substitution - Missense 8:38331573-38331573 - TCGA-D3-A1QA-06 COSM3648825 c.1616G>T p.G539V Substitution - Missense 8:38326822-38326822 - TCGA-AX-A063-01 COSM1099590 c.1168T>C p.Y390H Substitution - Missense 8:38329791-38329791 - Au4 COSM2960345 c.74C>T p.S25F Substitution - Missense 8:38348098-38348098 - TCGA-22-1002-01 COSM750481 c.3394G>A p.D1132N Substitution - Missense 8:38288594-38288594 - TCGA-21-5784-01 COSM750467 c.1126G>A p.E376K Substitution - Missense 8:38329833-38329833 - HN_62426 COSM130216 c.1910C>T p.S637F Substitution - Missense 8:38317984-38317984 - 2492722 COSM5723923 c.2504C>T p.A835V Substitution - Missense 8:38304694-38304694 - S02234 COSM5676314 c.1581+1G>A p.? Unknown 8:38329377-38329377 - TCGA-24-2288-01 COSM116990 c.824G>C p.W275S Substitution - Missense 8:38337391-38337391 - BN33 COSM1623985 c.4172A>G p.K1391R Substitution - Missense 8:38275783-38275783 - cSCCP8 COSM140606 c.1541G>A p.G514E Substitution - Missense 8:38329418-38329418 - OVCAR-3 COSM1673859 c.3220A>G p.K1074E Substitution - Missense 8:38289404-38289404 - 8047893 COSM3395313 c.222A>G p.P74P Substitution - coding silent 8:38347950-38347950 - T1743 COSM3432404 c.3724C>T p.R1242* Substitution - Nonsense 8:38279576-38279576 - 2290929 COSM4440159 c.4022G>A p.C1341Y Substitution - Missense 8:38276346-38276346 - TCGA-66-2768-01 COSM750463 c.121G>A p.A41T Substitution - Missense 8:38348051-38348051 - PD22365a COSM5790703 c.856T>G p.C286G Substitution - Missense 8:38337359-38337359 - T2269 COSM1489269 c.2291G>A p.R764H Substitution - Missense 8:38305397-38305397 - PD13763a COSM5773526 c.1907T>C p.V636A Substitution - Missense 8:38317987-38317987 - QC2-03-T2 COSM5651743 c.1311G>A p.E437E Substitution - coding silent 8:38329648-38329648 - C089 COSM5543611 c.1711T>G p.S571A Substitution - Missense 8:38321170-38321170 - S02354 COSM5695685 c.2120G>A p.C707Y Substitution - Missense 8:38314769-38314769 - TCGA-D1-A17H-01 COSM1099572 c.3929G>A p.R1310Q Substitution - Missense 8:38276439-38276439 - CHC892T COSM4796216 c.1843G>A p.G615R Substitution - Missense 8:38318907-38318907 - CSCC-20-T COSM4466418 c.1433C>T p.S478F Substitution - Missense 8:38329526-38329526 - TCGA-AP-A051-01 COSM1099594 c.838A>C p.T280P Substitution - Missense 8:38337377-38337377 - 587284 COSM1232749 c.631C>T p.R211C Substitution - Missense 8:38347541-38347541 - 477 COSM4438871 c.3464G>C p.R1155T Substitution - Missense 8:38288524-38288524 - Pat_16_A COSM5874651 c.598delA p.S200fs*20 Deletion - Frameshift 8:38347574-38347574 - STC291 COSM5063183 c.697A>G p.T233A Substitution - Missense 8:38338586-38338586 - VCB-PH-13T COSM4770717 c.2612-7C>T p.? Unknown 8:38299597-38299597 - TCGA-22-1002-01 COSM750480 c.3364G>A p.E1122K Substitution - Missense 8:38288624-38288624 - Au4 COSM2960344 c.74C>T p.S25F Substitution - Missense 8:38348098-38348098 - HCC91T COSM1623986 c.3303G>T p.K1101N Substitution - Missense 8:38288685-38288685 - BD22T COSM5508846 c.545C>G p.A182G Substitution - Missense 8:38347627-38347627 - Gp2D COSM1643598 c.1255delA p.T419fs*8 Deletion - Frameshift 8:38329704-38329704 - ESCC_BICR_041T COSM1099573 c.3461G>A p.R1154Q Substitution - Missense 8:38288527-38288527 - TCGA-D1-A17R-01 COSM1099574 c.3460C>T p.R1154W Substitution - Missense 8:38288528-38288528 - CHC326T COSM4951286 c.800A>C p.K267T Substitution - Missense 8:38337415-38337415 - pfg008T COSM1643597 c.1255delA p.T419fs*8 Deletion - Frameshift 8:38329704-38329704 - cSCCP8 COSM140605 c.1541G>A p.G514E Substitution - Missense 8:38329418-38329418 - PD4252a COSM165605 c.196C>G p.L66V Substitution - Missense 8:38347976-38347976 - TCGA-A5-A0GI-01 COSM1099602 c.261G>A p.Q87Q Substitution - coding silent 8:38347911-38347911 - TCGA-DD-A39Y-01 COSM4934595 c.1753T>C p.S585P Substitution - Missense 8:38321128-38321128 - ESCC_43 COSM5629914 c.1647C>T p.N549N Substitution - coding silent 8:38326791-38326791 - 2011-2344:2012-333-T COSM4606208 c.9C>G p.F3L Substitution - Missense 8:38348163-38348163 - Au3 COSM5602609 c.1211C>T p.S404F Substitution - Missense 8:38329748-38329748 - TCGA-BR-6452-01 COSM3899964 c.959C>T p.A320V Substitution - Missense 8:38331537-38331537 - TCGA-66-2789-01 COSM750461 c.86G>A p.R29H Substitution - Missense 8:38348086-38348086 - PT20_2 COSM5900745 c.1616G>A p.G539E Substitution - Missense 8:38326822-38326822 - PD18251a COSM2960232 c.3926G>C p.R1309T Substitution - Missense 8:38276442-38276442 - TCGA-HU-A4GN-01 COSM3899971 c.325A>G p.T109A Substitution - Missense 8:38347847-38347847 - BD6T COSM5499012 c.1629T>C p.L543L Substitution - coding silent 8:38326809-38326809 - TCGA-EL-A3T2-01 COSM3374915 c.1391C>T p.P464L Substitution - Missense 8:38329568-38329568 - BN33T COSM1623985 c.4172A>G p.K1391R Substitution - Missense 8:38275783-38275783 - TCGA-AX-A0J0-01 COSM1099597 c.806A>G p.Q269R Substitution - Missense 8:38337409-38337409 - 219 COSM4425083 c.2400T>A p.S800S Substitution - coding silent 8:38305288-38305288 - CPCG0201-F1 COSM4879883 c.3481A>G p.T1161A Substitution - Missense 8:38288507-38288507 - RK234_C01 COSM4945009 c.838A>T p.T280S Substitution - Missense 8:38337377-38337377 - ccRCC-82 COSM1665029 c.1985A>C p.Q662P Substitution - Missense 8:38315913-38315913 - HCC69 COSM1623988 c.977G>C p.R326P Substitution - Missense 8:38331519-38331519 - ESO-151 COSM1270464 c.1261C>T p.R421* Substitution - Nonsense 8:38329698-38329698 - CHC892T COSM4796216 c.1843G>A p.G615R Substitution - Missense 8:38318907-38318907 - HCC152 COSM3663752 c.2581A>G p.N861D Substitution - Missense 8:38304617-38304617 - ESCC_91 COSM5636965 c.1679C>T p.S560L Substitution - Missense 8:38326759-38326759 - TCGA-22-5480-01 COSM750475 c.2312G>T p.G771V Substitution - Missense 8:38305376-38305376 - TCGA-Q1-A73O-01 COSM4835910 c.1926G>C p.M642I Substitution - Missense 8:38315972-38315972 - 3N23-VS-3T23 COSM4979634 c.1320C>T p.S440S Substitution - coding silent 8:38329639-38329639 - TCGA-EI-6509-01 COSM5078463 c.2913delC p.Y971fs*1 Deletion - Frameshift 8:38295798-38295798 - PD4134a COSM165602 c.1192C>A p.Q398K Substitution - Missense 8:38329767-38329767 - ESCC_43 COSM5629915 c.1647C>T p.N549N Substitution - coding silent 8:38326791-38326791 - CSCC-10-T COSM4547401 c.4218G>A p.S1406S Substitution - coding silent 8:38275737-38275737 - ESCC_62 COSM2960256 c.2693G>A p.R898H Substitution - Missense 8:38299509-38299509 - PD22365a COSM5790697 c.854C>A p.P285H Substitution - Missense 8:38337361-38337361 - TCGA-FS-A1ZZ-06 COSM3648823 c.2667C>T p.S889S Substitution - coding silent 8:38299535-38299535 - TCGA-27-2518-01 COSM2157278 c.3042C>T p.G1014G Substitution - coding silent 8:38290551-38290551 - PD4252a COSM165604 c.196C>G p.L66V Substitution - Missense 8:38347976-38347976 - PCSI_0090_Pa_P COSM3382245 c.1656T>C p.N552N Substitution - coding silent 8:38326782-38326782 - PT08_1 COSM1552728 c.1906G>A p.A636T Substitution - Missense 8:38315992-38315992 - TCGA-22-1002-01 COSM750479 c.3350G>A p.R1117K Substitution - Missense 8:38288638-38288638 - TCGA-A8-A09M-01 COSM454525 c.2126G>C p.S709T Substitution - Missense 8:38314763-38314763 - TCGA-B5-A11E-01 COSM1099576 c.3184G>T p.E1062* Substitution - Nonsense 8:38289440-38289440 - TCGA-B5-A11Z-01 COSM1099593 c.1010A>C p.E337A Substitution - Missense 8:38331486-38331486 - V-PH-13T COSM4770369 c.2942C>G p.P981R Substitution - Missense 8:38290651-38290651 - CLL109 COSM1292689 c.550G>A p.E184K Substitution - Missense 8:38347622-38347622 - TCGA-22-5473-01 COSM750474 c.1904G>A p.R635H Substitution - Missense 8:38315994-38315994 - TCGA-CJ-5681-01 COSM486428 c.3543A>G p.E1181E Substitution - coding silent 8:38281542-38281542 - 107106 COSM95513 c.1444T>C p.S482P Substitution - Missense 8:38329515-38329515 - tumor_4116738 COSM1161756 c.2255G>T p.C752F Substitution - Missense 8:38305433-38305433 - ME009T COSM223245 c.3433C>T p.P1145S Substitution - Missense 8:38288555-38288555 - TCGA-B0-5094-01 COSM486433 c.1418C>T p.A473V Substitution - Missense 8:38329541-38329541 - C089 COSM5543610 c.1711T>G p.S571A Substitution - Missense 8:38321170-38321170 - SNU-175 COSM2960264 c.2447T>C p.M816T Substitution - Missense 8:38304751-38304751 - TCGA-33-4538-01 COSM750473 c.1552T>C p.F518L Substitution - Missense 8:38329407-38329407 - TCGA-EB-A3XD-01 COSM3648826 c.1446C>T p.S482S Substitution - coding silent 8:38329513-38329513 - 53M COSM3432406 c.2261C>T p.S754L Substitution - Missense 8:38305427-38305427 - PD6404a COSM5768831 c.17C>A p.S6Y Substitution - Missense 8:38348155-38348155 - TCGA-AP-A056-01 COSM1099585 c.1295A>C p.Q432P Substitution - Missense 8:38329664-38329664 - BD49T COSM5497913 c.1070G>A p.R357Q Substitution - Missense 8:38329889-38329889 - 2011-2344:2012-333-T COSM4605750 c.66C>T p.L22L Substitution - coding silent 8:38348106-38348106 - TCGA-CD-5801-01 COSM3899963 c.3338A>G p.E1113G Substitution - Missense 8:38288650-38288650 - 19M COSM5579993 c.99C>T p.A33A Substitution - coding silent 8:38348073-38348073 - PCSI_0122_Pa_X COSM3382244 c.2730G>A p.S910S Substitution - coding silent 8:38299472-38299472 - PDA_009 COSM4998332 c.1043G>T p.S348I Substitution - Missense 8:38331453-38331453 - TCGA-BJ-A2NA-01 COSM3374916 c.413C>T p.S138L Substitution - Missense 8:38347759-38347759 - TCGA-B0-4839-01 COSM3367339 c.287C>A p.S96* Substitution - Nonsense 8:38347885-38347885 - PCSI_0090_Pa_P COSM3382246 c.1656T>C p.N552N Substitution - coding silent 8:38326782-38326782 - TCGA-HU-A4G8-01 COSM3899966 c.813C>T p.G271G Substitution - coding silent 8:38337402-38337402 - TCGA-D7-6822-01 COSM3899959 c.3814G>C p.E1272Q Substitution - Missense 8:38278359-38278359 - CRC-19T COSM750483 c.3928C>T p.R1310* Substitution - Nonsense 8:38276440-38276440 - pfg008T COSM1643598 c.1255delA p.T419fs*8 Deletion - Frameshift 8:38329704-38329704 - 2492714 COSM5718660 c.2573C>T p.S858F Substitution - Missense 8:38304625-38304625 - TCGA-39-5016-01 COSM750464 c.960G>T p.A320A Substitution - coding silent 8:38331536-38331536 - CSCC-40-T COSM4454020 c.3887A>C p.N1296T Substitution - Missense 8:38276481-38276481 - 587376 COSM1232752 c.2561G>T p.S854I Substitution - Missense 8:38304637-38304637 - 8036161 COSM3395310 c.886G>T p.V296F Substitution - Missense 8:38337329-38337329 - TCGA-AP-A0LE-01 COSM1099577 c.3092C>T p.T1031I Substitution - Missense 8:38290501-38290501 - TCGA-66-2789-01 COSM750460 c.86G>A p.R29H Substitution - Missense 8:38348086-38348086 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.608061;Hs.608062;Hs.608063;Hs.608066;Hs.608067;Hs.608069;Hs.608070;Hs.608071;Hs.608074;Hs.608075;Hs.608077;Hs.608078;Hs.608079;Hs.608080;Hs.608082;Hs.608083;Hs.608084;Hs.608085;Hs.608088;Hs.608089;Hs.608090;Hs.608092;Hs.608094;Hs.608096;Hs.608098;Hs.608099;Hs.608100;Hs.608101;Hs.608103;Hs.608104;Hs.608106;Hs.608109;Hs.608110;Hs.608111 8p11.2 607083 2456349|CGAP|BC101717|C/T|coding|Thr186Met|648|Candidate; 2456349|CGAP|BC113469|C/T|coding|Thr186Met|648|Candidate; 2456349|CGAP|BC115006|C/T|coding|Thr186Met|669|Candidate; 2456350|CGAP|BC101717|A/C|coding|Thr611Thr|1924|Candidate; 2456350|CGAP|BC113469|A/C|coding|Thr611Thr|1924|Candidate; 2456350|CGAP|BC115006|A/C|coding|Thr611Thr|1945|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.F518L c.1552T>C 8 38186925 LUSC A G Missense p.F787S c.2360T>C 8 38162846 UCEC A G Missense p.V234A c.701T>C 8 38196100 UCEC A G Missense p.Y1357H c.4069T>C 8 38133817 CM A G Missense p.Y390H c.1168T>C 8 38187309 UCEC A - IntronicDeletion . c.1855+1133delT 8 38175280 STAD C A IntronicSNV . c.1855+913G>T 8 38175500 RCCC C A Missense p.C752F c.2255G>T 8 38162951 DLBCL C A Missense p.G771V c.2312G>T 8 38162894 LUSC C A Missense p.V310F c.928G>T 8 38189086 RCCC C A SpliceAcceptorSNV . c.2612-1G>T 8 38157109 STAD C A Synonymous p.A320A c.960G>T 8 38189054 LUSC C A Synonymous p.V143V c.429G>T 8 38205261 CM CC AA Missense p.W1010F c.3029_3030delinsTT 8 38148081 CM C G Missense p.A481P c.1441G>C 8 38187036 CM C G Missense p.E1272Q c.3814G>C 8 38135877 STAD C G Missense p.E446Q c.1336G>C 8 38187141 LUSC C G Missense p.E927Q c.2779G>C 8 38153450 LUAD C G Missense p.G1285A c.3854G>C 8 38135837 LUAD C G Missense p.R648T c.1943G>C 8 38173473 BLCA C G Missense p.S709T c.2126G>C 8 38172281 BRCA C G Missense p.W275S c.824G>C 8 38194909 OV C T 5-UTRSNV . c.1-33951G>A 8 38239640 DLBCL C T 5-UTRSNV . c.1-5G>A 8 38205694 ESCA C T Missense p.D1132N c.3394G>A 8 38146112 LUSC C T Missense p.E1028K c.3082G>A 8 38148029 HNSC C T Missense p.E1122K c.3364G>A 8 38146142 LUSC C T Missense p.E1148K c.3442G>A 8 38146064 LUSC C T Missense p.E1434K c.4300G>A 8 38133173 BRCA C T Missense p.E184K c.550G>A 8 38205140 CLL C T Missense p.E376K c.1126G>A 8 38187351 LUSC C T Missense p.E534K c.1600G>A 8 38184356 BRCA C T Missense p.E944K c.2830G>A 8 38153399 LUSC C T Missense p.G1176S c.3526G>A 8 38139077 STAD C T Missense p.G731R c.2191G>A 8 38172216 HNSC C T Missense p.R1117K c.3350G>A 8 38146156 LUSC C T Missense p.R1154Q c.3461G>A 8 38146045 BRCA C T Missense p.R211H c.632G>A 8 38205058 LUAD C T Missense p.R29H c.86G>A 8 38205604 LUSC C T Missense p.R635H c.1904G>A 8 38173512 LUSC C T Missense p.R635H c.1904G>A 8 38173512 UCEC C T Missense p.R764H c.2291G>A 8 38162915 BRCA C T Missense p.R780H c.2339G>A 8 38162867 PRAD C T Synonymous p.K1311K c.3933G>A 8 38133953 CM C T Synonymous p.Q311Q c.933G>A 8 38189081 LUAD C T Synonymous p.Q398Q c.1194G>A 8 38187283 UCEC C T Synonymous p.Q87Q c.261G>A 8 38205429 UCEC C T Synonymous p.S691S c.2073G>A 8 38172976 HNSC G A IntronicSNV . c.1809+104C>T 8 38178486 CM G A IntronicSNV . c.1855+1070C>T 8 38175343 CM G A IntronicSNV . c.1855+911C>T 8 38175502 HNSC G A Missense p.P1145S c.3433C>T 8 38146073 CM G A Missense p.P121S c.361C>T 8 38205329 CM G A Missense p.P249S c.745C>T 8 38196056 CM G A Missense p.P464L c.1391C>T 8 38187086 THCA G A Missense p.P716S c.2146C>T 8 38172261 CM G A Missense p.S138L c.413C>T 8 38205277 THCA G A Missense p.T1031I c.3092C>T 8 38148019 UCEC G A Nonsense p.Q875* c.2623C>T 8 38157097 PRAD G A Nonsense p.R1310* c.3928C>T 8 38133958 LUSC G A Nonsense p.R1310* c.3928C>T 8 38133958 STAD G A Nonsense p.R421* c.1261C>T 8 38187216 ESCA G A Synonymous p.G1014G c.3042C>T 8 38148069 GBM G A Synonymous p.L845L c.2535C>T 8 38162181 HNSC G A Synonymous p.S404S c.1212C>T 8 38187265 CM G A Synonymous p.S451S c.1353C>T 8 38187124 CM G A Synonymous p.S889S c.2667C>T 8 38157053 CM G A Synonymous p.Y843Y c.2529C>T 8 38162187 LUAD G C Missense p.I1188M c.3564C>G 8 38139039 ESCA G C Missense p.L66V c.196C>G 8 38205494 BRCA G C Nonsense p.S645* c.1934C>G 8 38173482 BRCA GG AA Missense p.P282F c.844_845delinsTT 8 38194888 CM GG AT Missense p.S478Y c.1433_1434delinsAT 8 38187043 CM G - IntronicDeletion . c.1856-1143delC 8 38174703 STAD G T Missense p.L630I c.1888C>A 8 38173528 CM G T Missense p.Q398K c.1192C>A 8 38187285 BRCA G T Nonsense p.S96* c.287C>A 8 38205403 RCCC G T Synonymous p.I1188I c.3564C>A 8 38139039 STAD T A IntronicSNV . c.2242+21A>T 8 38172144 NSCLC T A Missense p.Y308F c.923A>T 8 38189091 CM T A Nonsense p.K532* c.1594A>T 8 38184362 HC T A Nonsense p.R870* c.2608A>T 8 38162108 LUSC T C Missense p.K631E c.1891A>G 8 38173525 RCCC T C Missense p.K772E c.2314A>G 8 38162892 HC T C Missense p.T1232A c.3694A>G 8 38137124 CLL T C Missense p.Y887C c.2660A>G 8 38157060 LUSC T - Frameshift p.E1182Kfs*15 c.3543delA 8 38139060 RCCC - T Frameshift p.H1124Qfs*23 c.3371dupA 8 38146135 PRAD T - Frameshift p.T419Pfs*8 c.1255delA 8 38187222 STAD T G Missense p.E1256A c.3767A>C 8 38135924 RCCC T G Missense p.E1297D c.3891A>C 8 38133995 LUAD T G Missense p.E337A c.1010A>C 8 38189004 UCEC