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 1 67306280 67306280 + Missense_Mutation SNP C C T TCGA-OR-A5KB-01A-11D-A30A-10 TCGA-OR-A5KB-11A-11D-A30A-10 g.chr1:67306280C>T c.1366G>A c.(1366-1368)Gag>Aag p.E456K BLCA 1 67288098 67288098 + Silent SNP T T A TCGA-UY-A78K-01A-11D-A339-08 TCGA-UY-A78K-10A-01D-A339-08 g.chr1:67288098T>A c.2442A>T c.(2440-2442)ggA>ggT p.G814G BLCA 1 67288118 67288118 + Silent SNP G G A TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr1:67288118G>A c.2422C>T c.(2422-2424)Ctg>Ttg p.L808L BLCA 1 67293551 67293551 + Missense_Mutation SNP G G C TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 g.chr1:67293551G>C c.2056C>G c.(2056-2058)Cac>Gac p.H686D BLCA 1 67293582 67293582 + Silent SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 g.chr1:67293582G>A c.2025C>T c.(2023-2025)atC>atT p.I675I BLCA 1 67299711 67299711 + Missense_Mutation SNP G G C TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 g.chr1:67299711G>C c.1854C>G c.(1852-1854)atC>atG p.I618M BLCA 1 67299722 67299722 + Missense_Mutation SNP C C A TCGA-UY-A78O-01A-12D-A339-08 TCGA-UY-A78O-10A-01D-A339-08 g.chr1:67299722C>A c.1843G>T c.(1843-1845)Gat>Tat p.D615Y BLCA 1 67299731 67299731 + Missense_Mutation SNP T T A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr1:67299731T>A c.1834A>T c.(1834-1836)Ata>Tta p.I612L BLCA 1 67313237 67313237 + Missense_Mutation SNP C C A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 g.chr1:67313237C>A c.1221G>T c.(1219-1221)atG>atT p.M407I BLCA 1 67327922 67327922 + Missense_Mutation SNP G G A TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 g.chr1:67327922G>A c.1004C>T c.(1003-1005)tCa>tTa p.S335L BLCA 1 67337122 67337122 + Missense_Mutation SNP T T A TCGA-XF-A9T0-01A-11D-A391-08 TCGA-XF-A9T0-10A-01D-A394-08 g.chr1:67337122T>A c.871A>T c.(871-873)Atg>Ttg p.M291L BLCA 1 67337187 67337187 + Missense_Mutation SNP C C A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr1:67337187C>A c.806G>T c.(805-807)aGa>aTa p.R269I BLCA 1 67340468 67340468 + Missense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 g.chr1:67340468C>G c.796G>C c.(796-798)Gta>Cta p.V266L BLCA 1 67356879 67356879 + Missense_Mutation SNP C C T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 g.chr1:67356879C>T c.601G>A c.(601-603)Gaa>Aaa p.E201K BRCA 1 67292637 67292637 + Missense_Mutation SNP C C A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr1:67292637C>A c.2205G>T c.(2203-2205)gaG>gaT p.E735D BRCA 1 67293563 67293563 + Nonsense_Mutation SNP C C A TCGA-A7-A56D-01A-11D-A27P-09 TCGA-A7-A56D-10A-01D-A27P-09 g.chr1:67293563C>A c.2044G>T c.(2044-2046)Gaa>Taa p.E682* BRCA 1 67299695 67299695 + Nonsense_Mutation SNP G G A TCGA-C8-A12W-01A-11D-A10Y-09 TCGA-C8-A12W-10A-01D-A110-09 g.chr1:67299695G>A c.1870C>T c.(1870-1872)Cga>Tga p.R624* BRCA 1 67306238 67306238 + Missense_Mutation SNP C C T TCGA-AO-A12E-01A-11D-A10M-09 TCGA-AO-A12E-10A-01D-A10M-09 g.chr1:67306238C>T c.1408G>A c.(1408-1410)Gcc>Acc p.A470T BRCA 1 67371056 67371056 + Missense_Mutation SNP T T C TCGA-BH-A208-01A-11D-A159-09 TCGA-BH-A208-11A-51D-A159-09 g.chr1:67371056T>C c.173A>G c.(172-174)aAc>aGc p.N58S CESC 1 67340544 67340544 + Silent SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 g.chr1:67340544G>C c.720C>G c.(718-720)ctC>ctG p.L240L CESC 1 67359062 67359062 + Missense_Mutation SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 g.chr1:67359062C>T c.380G>A c.(379-381)cGa>cAa p.R127Q COAD 1 67288097 67288097 + Nonsense_Mutation SNP G G A TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr1:67288097G>A c.2443C>T c.(2443-2445)Cag>Tag p.Q815* COAD 1 67292620 67292620 + Missense_Mutation SNP A A G TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr1:67292620A>G c.2222T>C c.(2221-2223)tTg>tCg p.L741S COAD 1 67292620 67292620 + Missense_Mutation SNP A A G TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr1:67292620A>G c.2222T>C c.(2221-2223)tTg>tCg p.L741S COAD 1 67292620 67292620 + Missense_Mutation SNP A A G TCGA-G4-6307-01A-11D-1719-10 TCGA-G4-6307-10A-01D-1720-10 g.chr1:67292620A>G c.2222T>C c.(2221-2223)tTg>tCg p.L741S COAD 1 67299312 67299312 + Missense_Mutation SNP T T C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr1:67299312T>C c.1969A>G c.(1969-1971)Ata>Gta p.I657V COAD 1 67306238 67306238 + Missense_Mutation SNP C C T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr1:67306238C>T c.1408G>A c.(1408-1410)Gcc>Acc p.A470T COAD 1 67306260 67306260 + Silent SNP A A G TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr1:67306260A>G c.1386T>C c.(1384-1386)caT>caC p.H462H COAD 1 67306261 67306261 + Missense_Mutation SNP T T A TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr1:67306261T>A c.1385A>T c.(1384-1386)cAt>cTt p.H462L COAD 1 67337149 67337149 + Missense_Mutation SNP C C T TCGA-AA-3680-01A-01W-0900-09 TCGA-AA-3680-10A-01W-0900-09 g.chr1:67337149C>T c.844G>A c.(844-846)Ggc>Agc p.G282S COAD 1 67340576 67340577 + Frame_Shift_Ins INS - - T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:67340576_67340577insT c.687_688insA c.(685-690)aaagaafs p.E230fs COAD 1 67359089 67359089 + Missense_Mutation SNP T T C TCGA-D5-5540-01A-01D-1650-10 TCGA-D5-5540-10A-01D-1650-10 g.chr1:67359089T>C c.353A>G c.(352-354)gAc>gGc p.D118G COAD 1 67359089 67359089 + Missense_Mutation SNP T T C TCGA-D5-6529-01A-11D-1771-10 TCGA-D5-6529-10A-01D-1771-10 g.chr1:67359089T>C c.353A>G c.(352-354)gAc>gGc p.D118G COAD 1 67359090 67359090 + Missense_Mutation SNP C C A TCGA-D5-6923-01A-11D-1924-10 TCGA-D5-6923-10A-01D-1924-10 g.chr1:67359090C>A c.352G>T c.(352-354)Gac>Tac p.D118Y COAD 1 67371018 67371019 + Frame_Shift_Ins INS - - A TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr1:67371018_67371019insA c.210_211insT c.(208-213)tttgctfs p.A71fs COADREAD 1 67288097 67288097 + Nonsense_Mutation SNP G G A TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr1:67288097G>A c.2443C>T c.(2443-2445)Cag>Tag p.Q815* COADREAD 1 67292620 67292620 + Missense_Mutation SNP A A G TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr1:67292620A>G c.2222T>C c.(2221-2223)tTg>tCg p.L741S COADREAD 1 67292620 67292620 + Missense_Mutation SNP A A G TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr1:67292620A>G c.2222T>C c.(2221-2223)tTg>tCg p.L741S COADREAD 1 67292620 67292620 + Missense_Mutation SNP A A G TCGA-G4-6307-01A-11D-1719-10 TCGA-G4-6307-10A-01D-1720-10 g.chr1:67292620A>G c.2222T>C c.(2221-2223)tTg>tCg p.L741S COADREAD 1 67299312 67299312 + Missense_Mutation SNP T T C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr1:67299312T>C c.1969A>G c.(1969-1971)Ata>Gta p.I657V COADREAD 1 67306238 67306238 + Missense_Mutation SNP C C T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr1:67306238C>T c.1408G>A c.(1408-1410)Gcc>Acc p.A470T COADREAD 1 67306260 67306260 + Silent SNP A A G TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr1:67306260A>G c.1386T>C c.(1384-1386)caT>caC p.H462H COADREAD 1 67306261 67306261 + Missense_Mutation SNP T T A TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr1:67306261T>A c.1385A>T c.(1384-1386)cAt>cTt p.H462L COADREAD 1 67306290 67306290 + Silent SNP T T C TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:67306290T>C c.1356A>G c.(1354-1356)gaA>gaG p.E452E COADREAD 1 67306347 67306347 + Missense_Mutation SNP T T G TCGA-AG-3600-01A-01W-0833-10 TCGA-AG-3600-10A-01W-0833-10 g.chr1:67306347T>G c.1299A>C c.(1297-1299)gaA>gaC p.E433D COADREAD 1 67337149 67337149 + Missense_Mutation SNP C C T TCGA-AA-3680-01A-01W-0900-09 TCGA-AA-3680-10A-01W-0900-09 g.chr1:67337149C>T c.844G>A c.(844-846)Ggc>Agc p.G282S COADREAD 1 67340576 67340577 + Frame_Shift_Ins INS - - T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:67340576_67340577insT c.687_688insA c.(685-690)aaagaafs p.E230fs COADREAD 1 67358918 67358918 + Missense_Mutation SNP A A C TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:67358918A>C c.524T>G c.(523-525)tTt>tGt p.F175C COADREAD 1 67359089 67359089 + Missense_Mutation SNP T T C TCGA-D5-5540-01A-01D-1650-10 TCGA-D5-5540-10A-01D-1650-10 g.chr1:67359089T>C c.353A>G c.(352-354)gAc>gGc p.D118G COADREAD 1 67359089 67359089 + Missense_Mutation SNP T T C TCGA-D5-6529-01A-11D-1771-10 TCGA-D5-6529-10A-01D-1771-10 g.chr1:67359089T>C c.353A>G c.(352-354)gAc>gGc p.D118G COADREAD 1 67359090 67359090 + Missense_Mutation SNP C C A TCGA-AG-3742-01A-11D-1657-10 TCGA-AG-3742-11A-01D-1657-10 g.chr1:67359090C>A c.352G>T c.(352-354)Gac>Tac p.D118Y COADREAD 1 67359090 67359090 + Missense_Mutation SNP C C A TCGA-D5-6923-01A-11D-1924-10 TCGA-D5-6923-10A-01D-1924-10 g.chr1:67359090C>A c.352G>T c.(352-354)Gac>Tac p.D118Y COADREAD 1 67370934 67370934 + Missense_Mutation SNP G G A TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr1:67370934G>A c.295C>T c.(295-297)Cct>Tct p.P99S COADREAD 1 67371018 67371019 + Frame_Shift_Ins INS - - A TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr1:67371018_67371019insA c.210_211insT c.(208-213)tttgctfs p.A71fs DLBC 1 67327986 67327986 + Splice_Site SNP C C G TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr1:67327986C>G c.e7-1 ESCA 1 67288089 67288089 + Silent SNP A A T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 g.chr1:67288089A>T c.2451T>A c.(2449-2451)tcT>tcA p.S817S ESCA 1 67301382 67301382 + Missense_Mutation SNP C C T TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 g.chr1:67301382C>T c.1660G>A c.(1660-1662)Gtt>Att p.V554I ESCA 1 67313346 67313346 + Missense_Mutation SNP G G T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 g.chr1:67313346G>T c.1112C>A c.(1111-1113)tCt>tAt p.S371Y GBM 1 67301382 67301382 + Missense_Mutation SNP C C T TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 g.chr1:67301382C>T c.1660G>A c.(1660-1662)Gtt>Att p.V554I GBM 1 67301450 67301450 + Missense_Mutation SNP C C T TCGA-27-2526-01A-01D-1494-08 TCGA-27-2526-10A-01D-1494-08 g.chr1:67301450C>T c.1592G>A c.(1591-1593)cGt>cAt p.R531H GBM 1 67313167 67313167 + Splice_Site SNP C C T TCGA-06-2570-01A-01D-1495-08 TCGA-06-2570-10A-01D-1495-08 g.chr1:67313167C>T c.1291G>A c.(1291-1293)Gaa>Aaa p.E431K GBMLGG 1 67292589 67292589 + Silent SNP G G A TCGA-S9-A7QW-01A-11D-A34A-08 TCGA-S9-A7QW-10A-01D-A34A-08 g.chr1:67292589G>A c.2253C>T c.(2251-2253)taC>taT p.Y751Y GBMLGG 1 67299299 67299299 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:67299299G>T c.1982C>A c.(1981-1983)gCt>gAt p.A661D GBMLGG 1 67301382 67301382 + Missense_Mutation SNP C C T TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 g.chr1:67301382C>T c.1660G>A c.(1660-1662)Gtt>Att p.V554I GBMLGG 1 67301450 67301450 + Missense_Mutation SNP C C T TCGA-27-2526-01A-01D-1494-08 TCGA-27-2526-10A-01D-1494-08 g.chr1:67301450C>T c.1592G>A c.(1591-1593)cGt>cAt p.R531H GBMLGG 1 67313167 67313167 + Splice_Site SNP C C T TCGA-06-2570-01A-01D-1495-08 TCGA-06-2570-10A-01D-1495-08 g.chr1:67313167C>T c.1291G>A c.(1291-1293)Gaa>Aaa p.E431K GBMLGG 1 67340464 67340464 + Splice_Site SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:67340464G>A c.800C>T c.(799-801)aCt>aTt p.T267I GBMLGG 1 67356837 67356837 + Splice_Site SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:67356837C>A c.643G>T c.(643-645)Gat>Tat p.D215Y GBMLGG 1 67370972 67370972 + Missense_Mutation SNP T T C TCGA-DU-7011-01A-11D-2024-08 TCGA-DU-7011-10A-01D-2024-08 g.chr1:67370972T>C c.257A>G c.(256-258)cAa>cGa p.Q86R GBMLGG 1 67371036 67371037 + Frame_Shift_Ins INS - - A TCGA-HT-7854-01A-11D-2253-08 TCGA-HT-7854-10A-01D-2253-08 g.chr1:67371036_67371037insA c.192_193insT c.(190-195)aagaagfs p.K65fs HNSC 1 67292591 67292591 + Missense_Mutation SNP A A C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 g.chr1:67292591A>C c.2251T>G c.(2251-2253)Tac>Gac p.Y751D HNSC 1 67292604 67292604 + Silent SNP A A T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 g.chr1:67292604A>T c.2238T>A c.(2236-2238)gcT>gcA p.A746A HNSC 1 67292683 67292683 + Missense_Mutation SNP A A G TCGA-CQ-6225-01A-11D-1912-08 TCGA-CQ-6225-10A-01D-1912-08 g.chr1:67292683A>G c.2159T>C c.(2158-2160)tTt>tCt p.F720S HNSC 1 67327892 67327892 + Missense_Mutation SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 g.chr1:67327892C>A c.1034G>T c.(1033-1035)aGt>aTt p.S345I HNSC 1 67340502 67340502 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 g.chr1:67340502G>A c.762C>T c.(760-762)gtC>gtT p.V254V HNSC 1 67359072 67359072 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 g.chr1:67359072C>A c.370G>T c.(370-372)Gtt>Ttt p.V124F HNSC 1 67370926 67370926 + Silent SNP C C A TCGA-T2-A6WZ-01A-21D-A34J-08 TCGA-T2-A6WZ-10B-01D-A34M-08 g.chr1:67370926C>A c.303G>T c.(301-303)ctG>ctT p.L101L HNSC 1 67390434 67390435 + Frame_Shift_Ins INS - - C TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 g.chr1:67390434_67390435insC c.80_81insG c.(79-81)ggcfs p.G27fs KIPAN 1 67301400 67301400 + Missense_Mutation SNP C C T TCGA-CJ-5679-01A-11D-1534-10 TCGA-CJ-5679-11A-01D-1535-10 g.chr1:67301400C>T c.1642G>A c.(1642-1644)Gca>Aca p.A548T KIPAN 1 67340463 67340463 + Splice_Site SNP C C T TCGA-B0-4816-01A-01D-1501-10 TCGA-B0-4816-11A-02D-1501-10 g.chr1:67340463C>T c.e5+1 KIPAN 1 67358977 67358977 + Missense_Mutation SNP T T G TCGA-B0-5691-01A-11D-1534-10 TCGA-B0-5691-11A-01D-1534-10 g.chr1:67358977T>G c.465A>C c.(463-465)gaA>gaC p.E155D KIPAN 1 67390428 67390428 + Missense_Mutation SNP T T A TCGA-B8-5550-01A-01D-1534-10 TCGA-B8-5550-10A-01D-1535-10 g.chr1:67390428T>A c.87A>T c.(85-87)aaA>aaT p.K29N KIRC 1 67301400 67301400 + Missense_Mutation SNP C C T TCGA-CJ-5679-01A-11D-1534-10 TCGA-CJ-5679-11A-01D-1535-10 g.chr1:67301400C>T c.1642G>A c.(1642-1644)Gca>Aca p.A548T KIRC 1 67340463 67340463 + Splice_Site SNP C C T TCGA-B0-4816-01A-01D-1501-10 TCGA-B0-4816-11A-02D-1501-10 g.chr1:67340463C>T c.e5+1 KIRC 1 67358977 67358977 + Missense_Mutation SNP T T G TCGA-B0-5691-01A-11D-1534-10 TCGA-B0-5691-11A-01D-1534-10 g.chr1:67358977T>G c.465A>C c.(463-465)gaA>gaC p.E155D KIRC 1 67390428 67390428 + Missense_Mutation SNP T T A TCGA-B8-5550-01A-01D-1534-10 TCGA-B8-5550-10A-01D-1535-10 g.chr1:67390428T>A c.87A>T c.(85-87)aaA>aaT p.K29N LGG 1 67292589 67292589 + Silent SNP G G A TCGA-S9-A7QW-01A-11D-A34A-08 TCGA-S9-A7QW-10A-01D-A34A-08 g.chr1:67292589G>A c.2253C>T c.(2251-2253)taC>taT p.Y751Y LGG 1 67299299 67299299 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:67299299G>T c.1982C>A c.(1981-1983)gCt>gAt p.A661D LGG 1 67340464 67340464 + Splice_Site SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:67340464G>A c.800C>T c.(799-801)aCt>aTt p.T267I LGG 1 67356837 67356837 + Splice_Site SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:67356837C>A c.643G>T c.(643-645)Gat>Tat p.D215Y LGG 1 67370972 67370972 + Missense_Mutation SNP T T C TCGA-DU-7011-01A-11D-2024-08 TCGA-DU-7011-10A-01D-2024-08 g.chr1:67370972T>C c.257A>G c.(256-258)cAa>cGa p.Q86R LGG 1 67371036 67371037 + Frame_Shift_Ins INS - - A TCGA-HT-7854-01A-11D-2253-08 TCGA-HT-7854-10A-01D-2253-08 g.chr1:67371036_67371037insA c.192_193insT c.(190-195)aagaagfs p.K65fs LIHC 1 67292680 67292680 + Frame_Shift_Del DEL A A - TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chr1:67292680delA c.2162delT c.(2161-2163)ttafs p.L721fs LIHC 1 67356850 67356850 + Silent SNP C C T TCGA-DD-A3A8-01A-11D-A22F-10 TCGA-DD-A3A8-11A-11D-A22F-10 g.chr1:67356850C>T c.630G>A c.(628-630)ttG>ttA p.L210L LIHC 1 67371059 67371059 + Splice_Site SNP C C T TCGA-2Y-A9HA-01A-11D-A38X-10 TCGA-2Y-A9HA-10A-01D-A38X-10 g.chr1:67371059C>T c.e2-1 LUAD 1 67288077 67288077 + Silent SNP C C G TCGA-17-Z023-01A-01W-0746-08 TCGA-17-Z023-11A-01W-0746-08 g.chr1:67288077C>G c.2463G>C c.(2461-2463)ctG>ctC p.L821L LUAD 1 67288118 67288118 + Missense_Mutation SNP G G C TCGA-55-8089-01A-11D-2238-08 TCGA-55-8089-10A-01D-2238-08 g.chr1:67288118G>C c.2422C>G c.(2422-2424)Ctg>Gtg p.L808V LUAD 1 67288175 67288175 + Missense_Mutation SNP C C A TCGA-50-5946-01A-11D-1753-08 TCGA-50-5946-10A-01D-1753-08 g.chr1:67288175C>A c.2365G>T c.(2365-2367)Gct>Tct p.A789S LUAD 1 67288201 67288201 + Splice_Site SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 g.chr1:67288201C>G c.e16-1 LUAD 1 67292623 67292623 + Missense_Mutation SNP G G C TCGA-69-7979-01A-11D-2184-08 TCGA-69-7979-10A-01D-2184-08 g.chr1:67292623G>C c.2219C>G c.(2218-2220)tCt>tGt p.S740C LUAD 1 67292659 67292659 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 g.chr1:67292659C>A c.2183G>T c.(2182-2184)gGt>gTt p.G728V LUAD 1 67293554 67293554 + Missense_Mutation SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 g.chr1:67293554T>A c.2053A>T c.(2053-2055)Att>Ttt p.I685F LUAD 1 67299719 67299719 + Nonsense_Mutation SNP C C A TCGA-17-Z030-01A-01W-0746-08 TCGA-17-Z030-11A-01W-0746-08 g.chr1:67299719C>A c.1846G>T c.(1846-1848)Gga>Tga p.G616* LUAD 1 67303405 67303405 + Silent SNP T T A TCGA-05-4424-01A-22D-1855-08 TCGA-05-4424-10A-01D-1855-08 g.chr1:67303405T>A c.1569A>T c.(1567-1569)atA>atT p.I523I LUAD 1 67306171 67306171 + Missense_Mutation SNP G G T TCGA-69-8255-01A-11D-2284-08 TCGA-69-8255-10A-01D-2284-08 g.chr1:67306171G>T c.1475C>A c.(1474-1476)gCc>gAc p.A492D LUAD 1 67327898 67327898 + Missense_Mutation SNP G G A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 g.chr1:67327898G>A c.1028C>T c.(1027-1029)tCa>tTa p.S343L LUAD 1 67327902 67327902 + Missense_Mutation SNP C C G TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 g.chr1:67327902C>G c.1024G>C c.(1024-1026)Gag>Cag p.E342Q LUAD 1 67327965 67327965 + Frame_Shift_Del DEL C C - TCGA-44-7661-01A-11D-2063-08 TCGA-44-7661-10A-01D-2063-08 g.chr1:67327965delC c.961delG c.(961-963)gatfs p.D321fs LUAD 1 67337072 67337072 + Missense_Mutation SNP T T A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 g.chr1:67337072T>A c.921A>T c.(919-921)aaA>aaT p.K307N LUAD 1 67340507 67340507 + Missense_Mutation SNP T T A TCGA-55-7995-01A-11D-2184-08 TCGA-55-7995-10A-01D-2184-08 g.chr1:67340507T>A c.757A>T c.(757-759)Aca>Tca p.T253S LUAD 1 67370902 67370902 + Silent SNP G G A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 g.chr1:67370902G>A c.327C>T c.(325-327)ccC>ccT p.P109P LUAD 1 67371051 67371051 + Missense_Mutation SNP C C A TCGA-95-7562-01A-11D-2238-08 TCGA-95-7562-10B-01D-2238-08 g.chr1:67371051C>A c.178G>T c.(178-180)Gcc>Tcc p.A60S LUAD 1 67371051 67371051 + Missense_Mutation SNP C C G TCGA-91-6848-01A-11D-1945-08 TCGA-91-6848-11A-01D-1945-08 g.chr1:67371051C>G c.178G>C c.(178-180)Gcc>Ccc p.A60P LUAD 1 67390500 67390500 + Missense_Mutation SNP T T A TCGA-17-Z030-01A-01W-0746-08 TCGA-17-Z030-11A-01W-0746-08 g.chr1:67390500T>A c.15A>T c.(13-15)aaA>aaT p.K5N LUSC 1 67292639 67292639 + Nonsense_Mutation SNP C C A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr1:67292639C>A c.2203G>T c.(2203-2205)Gag>Tag p.E735* LUSC 1 67337155 67337155 + Nonsense_Mutation SNP T T A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 g.chr1:67337155T>A c.838A>T c.(838-840)Aga>Tga p.R280* LUSC 1 67390477 67390477 + Missense_Mutation SNP G G C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 g.chr1:67390477G>C c.38C>G c.(37-39)gCc>gGc p.A13G OV 1 67292619 67292619 + Missense_Mutation SNP C C A TCGA-57-1584-01A-01W-0615-10 TCGA-57-1584-11A-01W-0615-10 g.chr1:67292619C>A c.2223G>T c.(2221-2223)ttG>ttT p.L741F OV 1 67337151 67337151 + Nonsense_Mutation SNP A A C TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 g.chr1:67337151A>C c.842T>G c.(841-843)tTa>tGa p.L281* OV 1 67359088 67359088 + Missense_Mutation SNP G G T TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 g.chr1:67359088G>T c.354C>A c.(352-354)gaC>gaA p.D118E PAAD 1 67279820 67279820 + Missense_Mutation SNP G G A TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 g.chr1:67279820G>A c.2540C>T c.(2539-2541)tCa>tTa p.S847L PAAD 1 67299780 67299780 + Silent SNP T T C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:67299780T>C c.1785A>G c.(1783-1785)gaA>gaG p.E595E PAAD 1 67301382 67301382 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:67301382C>T c.1660G>A c.(1660-1662)Gtt>Att p.V554I PAAD 1 67303362 67303362 + Intron SNP T T G TCGA-3A-A9IB-01A-21D-A397-08 TCGA-3A-A9IB-10A-01D-A39A-08 g.chr1:67303362T>G PAAD 1 67306218 67306218 + Nonsense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:67306218C>T c.1428G>A c.(1426-1428)tgG>tgA p.W476* PAAD 1 67337143 67337143 + Missense_Mutation SNP C C A TCGA-YB-A89D-01A-12D-A36O-08 TCGA-YB-A89D-10A-01D-A367-08 g.chr1:67337143C>A c.850G>T c.(850-852)Gac>Tac p.D284Y PRAD 1 67299306 67299306 + Nonsense_Mutation SNP G G A TCGA-HC-A8D0-01A-11D-A364-08 TCGA-HC-A8D0-10A-01D-A362-08 g.chr1:67299306G>A c.1975C>T c.(1975-1977)Cga>Tga p.R659* READ 1 67306290 67306290 + Silent SNP T T C TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:67306290T>C c.1356A>G c.(1354-1356)gaA>gaG p.E452E READ 1 67306347 67306347 + Missense_Mutation SNP T T G TCGA-AG-3600-01A-01W-0833-10 TCGA-AG-3600-10A-01W-0833-10 g.chr1:67306347T>G c.1299A>C c.(1297-1299)gaA>gaC p.E433D READ 1 67358918 67358918 + Missense_Mutation SNP A A C TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:67358918A>C c.524T>G c.(523-525)tTt>tGt p.F175C READ 1 67359090 67359090 + Missense_Mutation SNP C C A TCGA-AG-3742-01A-11D-1657-10 TCGA-AG-3742-11A-01D-1657-10 g.chr1:67359090C>A c.352G>T c.(352-354)Gac>Tac p.D118Y READ 1 67370934 67370934 + Missense_Mutation SNP G G A TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr1:67370934G>A c.295C>T c.(295-297)Cct>Tct p.P99S SARC 1 67301325 67301325 + Missense_Mutation SNP G G A TCGA-K1-A3PN-01A-11D-A228-09 TCGA-K1-A3PN-10A-01D-A22A-09 g.chr1:67301325G>A c.1717C>T c.(1717-1719)Cca>Tca p.P573S SKCM 1 67299299 67299299 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr1:67299299G>A c.1982C>T c.(1981-1983)gCt>gTt p.A661V SKCM 1 67299694 67299694 + Missense_Mutation SNP C C T TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr1:67299694C>T c.1871G>A c.(1870-1872)cGa>cAa p.R624Q SKCM 1 67299708 67299708 + Silent SNP G G A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 g.chr1:67299708G>A c.1857C>T c.(1855-1857)tcC>tcT p.S619S SKCM 1 67301341 67301341 + Silent SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 g.chr1:67301341C>T c.1701G>A c.(1699-1701)cgG>cgA p.R567R SKCM 1 67301343 67301343 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 g.chr1:67301343G>A c.1699C>T c.(1699-1701)Cgg>Tgg p.R567W SKCM 1 67306349 67306349 + Missense_Mutation SNP C C T TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr1:67306349C>T c.1297G>A c.(1297-1299)Gaa>Aaa p.E433K SKCM 1 67313257 67313257 + Missense_Mutation SNP G G A TCGA-FS-A1ZA-06A-11D-A197-08 TCGA-FS-A1ZA-10A-01D-A199-08 g.chr1:67313257G>A c.1201C>T c.(1201-1203)Cat>Tat p.H401Y SKCM 1 67340619 67340619 + Splice_Site SNP A A T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 g.chr1:67340619A>T c.645T>A c.(643-645)gaT>gaA p.D215E SKCM 1 67356859 67356859 + Silent SNP C C T TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chr1:67356859C>T c.621G>A c.(619-621)cgG>cgA p.R207R SKCM 1 67390462 67390462 + Missense_Mutation SNP G G A TCGA-EE-A29T-06A-11D-A197-08 TCGA-EE-A29T-10A-01D-A199-08 g.chr1:67390462G>A c.53C>T c.(52-54)gCt>gTt p.A18V

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 1 67288103 67288103 single base substitution C A 3_prime_UTR_variant BLCA-CN 1 67288103 67288103 single base substitution C A missense_variant D526Y 1576G>T BLCA-CN 1 67288103 67288103 single base substitution C A missense_variant D546Y 1636G>T BLCA-CN 1 67288103 67288103 single base substitution C A missense_variant D813Y 2437G>T BLCA-CN 1 67327859 67327859 single base substitution T C 3_prime_UTR_variant BLCA-CN 1 67327859 67327859 single base substitution T C downstream_gene_variant BLCA-CN 1 67327859 67327859 single base substitution T C exon_variant BLCA-CN 1 67327859 67327859 single base substitution T C missense_variant Q102R 305A>G BLCA-CN 1 67327859 67327859 single base substitution T C missense_variant Q122R 365A>G BLCA-CN 1 67327859 67327859 single base substitution T C missense_variant Q356R 1067A>G BLCA-CN 1 67327859 67327859 single base substitution T C missense_variant Q43R 128A>G BLCA-CN 1 67327859 67327859 single base substitution T C missense_variant Q89R 266A>G BLCA-US 1 67299731 67299731 single base substitution T A 3_prime_UTR_variant BLCA-US 1 67299731 67299731 single base substitution T A downstream_gene_variant BLCA-US 1 67299731 67299731 single base substitution T A missense_variant I358L 1072A>T BLCA-US 1 67299731 67299731 single base substitution T A missense_variant I378L 1132A>T BLCA-US 1 67299731 67299731 single base substitution T A missense_variant I612L 1834A>T BRCA-EU 1 67273580 67273580 single base substitution G A downstream_gene_variant BRCA-EU 1 67274663 67274663 single base substitution C A downstream_gene_variant BRCA-EU 1 67275409 67275409 single base substitution C G downstream_gene_variant BRCA-EU 1 67275898 67275898 single base substitution G A downstream_gene_variant BRCA-EU 1 67275903 67275903 single base substitution C T downstream_gene_variant BRCA-EU 1 67276929 67276929 single base substitution C G downstream_gene_variant BRCA-EU 1 67278469 67278469 insertion of <=200bp - A downstream_gene_variant BRCA-EU 1 67278673 67278673 single base substitution G A 3_prime_UTR_variant BRCA-EU 1 67278673 67278673 single base substitution G A downstream_gene_variant BRCA-EU 1 67280209 67280209 single base substitution G A intron_variant BRCA-EU 1 67281104 67281104 single base substitution C G intron_variant BRCA-EU 1 67281537 67281537 single base substitution C G intron_variant BRCA-EU 1 67283042 67283042 single base substitution G T intron_variant BRCA-EU 1 67283110 67283110 single base substitution G C intron_variant BRCA-EU 1 67286978 67286978 single base substitution C A intron_variant BRCA-EU 1 67288097 67288097 single base substitution G T 3_prime_UTR_variant BRCA-EU 1 67288097 67288097 single base substitution G T missense_variant Q528K 1582C>A BRCA-EU 1 67288097 67288097 single base substitution G T missense_variant Q548K 1642C>A BRCA-EU 1 67288097 67288097 single base substitution G T missense_variant Q815K 2443C>A BRCA-EU 1 67290618 67290618 single base substitution C G intron_variant BRCA-EU 1 67290947 67290947 single base substitution C T intron_variant BRCA-EU 1 67290964 67290964 single base substitution G A intron_variant BRCA-EU 1 67291446 67291446 single base substitution G T intron_variant BRCA-EU 1 67291511 67291511 single base substitution C G intron_variant BRCA-EU 1 67291648 67291648 single base substitution C A intron_variant BRCA-EU 1 67292835 67292835 single base substitution C G intron_variant BRCA-EU 1 67293173 67293173 insertion of <=200bp - A intron_variant BRCA-EU 1 67293252 67293252 single base substitution C T intron_variant BRCA-EU 1 67295368 67295368 single base substitution G A intron_variant BRCA-EU 1 67295454 67295454 single base substitution C G intron_variant BRCA-EU 1 67295837 67295837 single base substitution G C intron_variant BRCA-EU 1 67295966 67295966 single base substitution C T intron_variant BRCA-EU 1 67296473 67296473 deletion of <=200bp T - intron_variant BRCA-EU 1 67298387 67298387 single base substitution G T downstream_gene_variant BRCA-EU 1 67298387 67298387 single base substitution G T intron_variant BRCA-EU 1 67298627 67298627 single base substitution C A downstream_gene_variant BRCA-EU 1 67298627 67298627 single base substitution C A intron_variant BRCA-EU 1 67298899 67298899 insertion of <=200bp - A downstream_gene_variant BRCA-EU 1 67298899 67298899 insertion of <=200bp - A intron_variant BRCA-EU 1 67303288 67303288 single base substitution G C 3_prime_UTR_variant BRCA-EU 1 67303288 67303288 single base substitution G C downstream_gene_variant BRCA-EU 1 67303288 67303288 single base substitution G C intron_variant BRCA-EU 1 67303379 67303379 single base substitution C G intron_variant BRCA-EU 1 67303379 67303379 single base substitution C G missense_variant R154T 461G>C BRCA-EU 1 67303379 67303379 single base substitution C G missense_variant R532T 1595G>C BRCA-EU 1 67303750 67303750 single base substitution T G intron_variant BRCA-EU 1 67305153 67305153 single base substitution C T intron_variant BRCA-EU 1 67305964 67305964 single base substitution T G intron_variant BRCA-EU 1 67306506 67306506 single base substitution C T intron_variant BRCA-EU 1 67307523 67307523 single base substitution A T intron_variant BRCA-EU 1 67307533 67307533 single base substitution T C intron_variant BRCA-EU 1 67310284 67310284 single base substitution G A downstream_gene_variant BRCA-EU 1 67310284 67310284 single base substitution G A intron_variant BRCA-EU 1 67311806 67311806 single base substitution C A downstream_gene_variant BRCA-EU 1 67311806 67311806 single base substitution C A intron_variant BRCA-EU 1 67313944 67313944 single base substitution T A intron_variant BRCA-EU 1 67313944 67313944 single base substitution T A missense_variant N116Y 346A>T BRCA-EU 1 67314395 67314395 single base substitution G C intron_variant BRCA-EU 1 67314436 67314436 single base substitution G A intron_variant BRCA-EU 1 67314759 67314759 single base substitution G A intron_variant BRCA-EU 1 67314782 67314782 single base substitution C T intron_variant BRCA-EU 1 67315248 67315248 single base substitution T A intron_variant BRCA-EU 1 67315948 67315948 single base substitution C T intron_variant BRCA-EU 1 67316394 67316394 single base substitution A T intron_variant BRCA-EU 1 67317963 67317963 single base substitution C A intron_variant BRCA-EU 1 67320381 67320381 single base substitution A C intron_variant BRCA-EU 1 67320699 67320699 single base substitution T C intron_variant BRCA-EU 1 67322016 67322016 single base substitution C G downstream_gene_variant BRCA-EU 1 67322016 67322016 single base substitution C G intron_variant BRCA-EU 1 67323355 67323355 single base substitution T C downstream_gene_variant BRCA-EU 1 67323355 67323355 single base substitution T C intron_variant BRCA-EU 1 67323808 67323808 single base substitution A G downstream_gene_variant BRCA-EU 1 67323808 67323808 single base substitution A G intron_variant BRCA-EU 1 67324426 67324426 single base substitution C T downstream_gene_variant BRCA-EU 1 67324426 67324426 single base substitution C T intron_variant BRCA-EU 1 67329102 67329102 single base substitution C T intron_variant BRCA-EU 1 67329102 67329102 single base substitution C T upstream_gene_variant BRCA-EU 1 67329918 67329918 single base substitution C G intron_variant BRCA-EU 1 67329918 67329918 single base substitution C G upstream_gene_variant BRCA-EU 1 67329954 67329954 single base substitution C A intron_variant BRCA-EU 1 67329954 67329954 single base substitution C A upstream_gene_variant BRCA-EU 1 67330473 67330473 single base substitution G A intron_variant BRCA-EU 1 67330473 67330473 single base substitution G A upstream_gene_variant BRCA-EU 1 67332001 67332001 single base substitution A G downstream_gene_variant BRCA-EU 1 67332001 67332001 single base substitution A G intron_variant BRCA-EU 1 67332001 67332001 single base substitution A G upstream_gene_variant BRCA-EU 1 67332078 67332078 single base substitution C G downstream_gene_variant BRCA-EU 1 67332078 67332078 single base substitution C G intron_variant BRCA-EU 1 67332078 67332078 single base substitution C G upstream_gene_variant BRCA-EU 1 67332916 67332916 single base substitution C G downstream_gene_variant BRCA-EU 1 67332916 67332916 single base substitution C G intron_variant BRCA-EU 1 67332916 67332916 single base substitution C G upstream_gene_variant BRCA-EU 1 67333044 67333044 single base substitution G C downstream_gene_variant BRCA-EU 1 67333044 67333044 single base substitution G C intron_variant BRCA-EU 1 67333367 67333367 single base substitution T C downstream_gene_variant BRCA-EU 1 67333367 67333367 single base substitution T C intron_variant BRCA-EU 1 67334302 67334302 single base substitution C G downstream_gene_variant BRCA-EU 1 67334302 67334302 single base substitution C G intron_variant BRCA-EU 1 67334743 67334743 single base substitution G A downstream_gene_variant BRCA-EU 1 67334743 67334743 single base substitution G A intron_variant BRCA-EU 1 67334878 67334878 single base substitution C G downstream_gene_variant BRCA-EU 1 67334878 67334878 single base substitution C G intron_variant BRCA-EU 1 67337350 67337350 single base substitution T C intron_variant BRCA-EU 1 67337350 67337350 single base substitution T C upstream_gene_variant BRCA-EU 1 67340008 67340008 single base substitution C T intron_variant BRCA-EU 1 67340008 67340008 single base substitution C T upstream_gene_variant BRCA-EU 1 67341144 67341144 single base substitution G C intron_variant BRCA-EU 1 67341144 67341144 single base substitution G C upstream_gene_variant BRCA-EU 1 67341480 67341480 insertion of <=200bp - A intron_variant BRCA-EU 1 67341480 67341480 insertion of <=200bp - A upstream_gene_variant BRCA-EU 1 67342601 67342601 single base substitution G A intron_variant BRCA-EU 1 67342601 67342601 single base substitution G A upstream_gene_variant BRCA-EU 1 67343450 67343450 single base substitution C G intron_variant BRCA-EU 1 67343450 67343450 single base substitution C G upstream_gene_variant BRCA-EU 1 67343602 67343602 single base substitution C A intron_variant BRCA-EU 1 67343602 67343602 single base substitution C A upstream_gene_variant BRCA-EU 1 67344000 67344000 single base substitution C G intron_variant BRCA-EU 1 67344000 67344000 single base substitution C G upstream_gene_variant BRCA-EU 1 67344120 67344120 single base substitution C T intron_variant BRCA-EU 1 67344120 67344120 single base substitution C T upstream_gene_variant BRCA-EU 1 67345505 67345505 deletion of <=200bp T - intron_variant BRCA-EU 1 67345505 67345505 deletion of <=200bp T - upstream_gene_variant BRCA-EU 1 67346448 67346448 single base substitution A T intron_variant BRCA-EU 1 67346959 67346959 single base substitution C G intron_variant BRCA-EU 1 67347794 67347794 single base substitution C T intron_variant BRCA-EU 1 67348055 67348055 single base substitution A T intron_variant BRCA-EU 1 67348218 67348218 single base substitution C T intron_variant BRCA-EU 1 67349606 67349606 single base substitution C A intron_variant BRCA-EU 1 67351113 67351113 single base substitution T C intron_variant BRCA-EU 1 67351617 67351617 single base substitution T C intron_variant BRCA-EU 1 67351787 67351787 single base substitution C T intron_variant BRCA-EU 1 67353912 67353912 single base substitution C G intron_variant BRCA-EU 1 67355766 67355766 single base substitution G T downstream_gene_variant BRCA-EU 1 67355766 67355766 single base substitution G T intron_variant BRCA-EU 1 67356952 67356952 single base substitution T G downstream_gene_variant BRCA-EU 1 67356952 67356952 single base substitution T G splice_region_variant BRCA-EU 1 67360236 67360236 deletion of <=200bp A - intron_variant BRCA-EU 1 67361151 67361151 single base substitution C G intron_variant BRCA-EU 1 67361234 67361234 single base substitution G A intron_variant BRCA-EU 1 67361490 67361490 deletion of <=200bp T - intron_variant BRCA-EU 1 67363010 67363010 single base substitution G C intron_variant BRCA-EU 1 67363922 67363922 single base substitution T C intron_variant BRCA-EU 1 67364763 67364763 single base substitution C T intron_variant BRCA-EU 1 67364884 67364884 single base substitution C G intron_variant BRCA-EU 1 67365297 67365297 single base substitution T C intron_variant BRCA-EU 1 67365579 67365579 single base substitution C G downstream_gene_variant BRCA-EU 1 67365579 67365579 single base substitution C G intron_variant BRCA-EU 1 67365790 67365790 single base substitution T C downstream_gene_variant BRCA-EU 1 67365790 67365790 single base substitution T C intron_variant BRCA-EU 1 67366061 67366061 single base substitution G C downstream_gene_variant BRCA-EU 1 67366061 67366061 single base substitution G C intron_variant BRCA-EU 1 67369625 67369625 single base substitution T C downstream_gene_variant BRCA-EU 1 67369625 67369625 single base substitution T C intron_variant BRCA-EU 1 67370746 67370746 single base substitution T C 3_prime_UTR_variant BRCA-EU 1 67370746 67370746 single base substitution T C intron_variant BRCA-EU 1 67372264 67372264 single base substitution T C intron_variant BRCA-EU 1 67372264 67372264 single base substitution T C upstream_gene_variant BRCA-EU 1 67374750 67374750 single base substitution G T intron_variant BRCA-EU 1 67374750 67374750 single base substitution G T upstream_gene_variant BRCA-EU 1 67375743 67375743 single base substitution T C intron_variant BRCA-EU 1 67375743 67375743 single base substitution T C upstream_gene_variant BRCA-EU 1 67377394 67377394 single base substitution C G intron_variant BRCA-EU 1 67377394 67377394 single base substitution C G upstream_gene_variant BRCA-EU 1 67378463 67378463 single base substitution C T intron_variant BRCA-EU 1 67378735 67378735 single base substitution C T intron_variant BRCA-EU 1 67379591 67379591 single base substitution G T intron_variant BRCA-EU 1 67380438 67380438 single base substitution A T intron_variant BRCA-EU 1 67381349 67381349 deletion of <=200bp A - intron_variant BRCA-EU 1 67381697 67381697 single base substitution G C intron_variant BRCA-EU 1 67381946 67381946 single base substitution C T downstream_gene_variant BRCA-EU 1 67381946 67381946 single base substitution C T intron_variant BRCA-EU 1 67382404 67382404 single base substitution A G downstream_gene_variant BRCA-EU 1 67382404 67382404 single base substitution A G intron_variant BRCA-EU 1 67382925 67382925 single base substitution C T downstream_gene_variant BRCA-EU 1 67382925 67382925 single base substitution C T intron_variant BRCA-EU 1 67383108 67383108 single base substitution T C downstream_gene_variant BRCA-EU 1 67383108 67383108 single base substitution T C intron_variant BRCA-EU 1 67383470 67383470 single base substitution C G downstream_gene_variant BRCA-EU 1 67383470 67383470 single base substitution C G intron_variant BRCA-EU 1 67385153 67385153 single base substitution C G downstream_gene_variant BRCA-EU 1 67385153 67385153 single base substitution C G intron_variant BRCA-EU 1 67386623 67386623 single base substitution C G downstream_gene_variant BRCA-EU 1 67386623 67386623 single base substitution C G intron_variant BRCA-EU 1 67388269 67388269 single base substitution A G intron_variant BRCA-EU 1 67390396 67390396 single base substitution G T 5_prime_UTR_variant BRCA-EU 1 67390396 67390396 single base substitution G T exon_variant BRCA-EU 1 67390396 67390396 single base substitution G T missense_variant A40D 119C>A BRCA-EU 1 67390396 67390396 single base substitution G T upstream_gene_variant BRCA-EU 1 67390597 67390597 single base substitution G A upstream_gene_variant BRCA-EU 1 67390998 67390998 single base substitution C T upstream_gene_variant BRCA-EU 1 67392022 67392022 single base substitution G C upstream_gene_variant BRCA-EU 1 67392792 67392792 single base substitution C T upstream_gene_variant BRCA-FR 1 67280209 67280209 single base substitution G A intron_variant BRCA-FR 1 67282590 67282590 single base substitution C A intron_variant BRCA-FR 1 67290618 67290618 single base substitution C G intron_variant BRCA-FR 1 67290947 67290947 single base substitution C T intron_variant BRCA-FR 1 67291511 67291511 single base substitution C G intron_variant BRCA-FR 1 67292963 67292963 single base substitution A G intron_variant BRCA-FR 1 67294621 67294621 single base substitution G A intron_variant BRCA-FR 1 67296244 67296244 single base substitution G C intron_variant BRCA-FR 1 67307523 67307523 single base substitution A T intron_variant BRCA-FR 1 67307533 67307533 single base substitution T C intron_variant BRCA-FR 1 67309547 67309547 single base substitution G C downstream_gene_variant BRCA-FR 1 67309547 67309547 single base substitution G C intron_variant BRCA-FR 1 67340008 67340008 single base substitution C T intron_variant BRCA-FR 1 67340008 67340008 single base substitution C T upstream_gene_variant BRCA-FR 1 67342601 67342601 single base substitution G A intron_variant BRCA-FR 1 67342601 67342601 single base substitution G A upstream_gene_variant BRCA-FR 1 67343602 67343602 single base substitution C A intron_variant BRCA-FR 1 67343602 67343602 single base substitution C A upstream_gene_variant BRCA-FR 1 67344000 67344000 single base substitution C G intron_variant BRCA-FR 1 67344000 67344000 single base substitution C G upstream_gene_variant BRCA-FR 1 67344120 67344120 single base substitution C T intron_variant BRCA-FR 1 67344120 67344120 single base substitution C T upstream_gene_variant BRCA-FR 1 67353912 67353912 single base substitution C G intron_variant BRCA-FR 1 67356708 67356708 single base substitution G C 3_prime_UTR_variant BRCA-FR 1 67356708 67356708 single base substitution G C downstream_gene_variant BRCA-FR 1 67356708 67356708 single base substitution G C intron_variant BRCA-FR 1 67357208 67357208 single base substitution G C downstream_gene_variant BRCA-FR 1 67357208 67357208 single base substitution G C intron_variant BRCA-FR 1 67362323 67362323 single base substitution C T intron_variant BRCA-FR 1 67378463 67378463 single base substitution C T intron_variant BRCA-FR 1 67384340 67384340 single base substitution G A downstream_gene_variant BRCA-FR 1 67384340 67384340 single base substitution G A intron_variant BRCA-FR 1 67388849 67388849 single base substitution A G intron_variant BRCA-FR 1 67394668 67394668 single base substitution G C upstream_gene_variant BRCA-UK 1 67290413 67290413 single base substitution G A intron_variant BRCA-UK 1 67292835 67292835 single base substitution C G intron_variant BRCA-UK 1 67293252 67293252 single base substitution C T intron_variant BRCA-UK 1 67295837 67295837 single base substitution G C intron_variant BRCA-UK 1 67337350 67337350 single base substitution T C intron_variant BRCA-UK 1 67337350 67337350 single base substitution T C upstream_gene_variant BRCA-UK 1 67343450 67343450 single base substitution C G intron_variant BRCA-UK 1 67343450 67343450 single base substitution C G upstream_gene_variant BRCA-UK 1 67363010 67363010 single base substitution G C intron_variant BRCA-UK 1 67382404 67382404 single base substitution A G downstream_gene_variant BRCA-UK 1 67382404 67382404 single base substitution A G intron_variant BRCA-US 1 67292637 67292637 single base substitution C A 3_prime_UTR_variant BRCA-US 1 67292637 67292637 single base substitution C A missense_variant E448D 1344G>T BRCA-US 1 67292637 67292637 single base substitution C A missense_variant E468D 1404G>T BRCA-US 1 67292637 67292637 single base substitution C A missense_variant E735D 2205G>T BRCA-US 1 67293563 67293563 single base substitution C A 3_prime_UTR_variant BRCA-US 1 67293563 67293563 single base substitution C A intron_variant BRCA-US 1 67293563 67293563 single base substitution C A stop_gained E682* 2044G>T BRCA-US 1 67299695 67299695 single base substitution G A 3_prime_UTR_variant BRCA-US 1 67299695 67299695 single base substitution G A downstream_gene_variant BRCA-US 1 67299695 67299695 single base substitution G A stop_gained R370* 1108C>T BRCA-US 1 67299695 67299695 single base substitution G A stop_gained R390* 1168C>T BRCA-US 1 67299695 67299695 single base substitution G A stop_gained R624* 1870C>T BRCA-US 1 67306238 67306238 single base substitution C T 3_prime_UTR_variant BRCA-US 1 67306238 67306238 single base substitution C T missense_variant A216T 646G>A BRCA-US 1 67306238 67306238 single base substitution C T missense_variant A236T 706G>A BRCA-US 1 67306238 67306238 single base substitution C T missense_variant A470T 1408G>A BRCA-US 1 67306238 67306238 single base substitution C T missense_variant A92T 274G>A BRCA-US 1 67371056 67371056 single base substitution T C intron_variant BRCA-US 1 67371056 67371056 single base substitution T C missense_variant N58S 173A>G BRCA-US 1 67371056 67371056 single base substitution T C splice_region_variant BRCA-US 1 67371056 67371056 single base substitution T C upstream_gene_variant BTCA-JP 1 67288021 67288021 single base substitution A T intron_variant BTCA-JP 1 67292585 67292585 single base substitution C T 3_prime_UTR_variant BTCA-JP 1 67292585 67292585 single base substitution C T missense_variant V466I 1396G>A BTCA-JP 1 67292585 67292585 single base substitution C T missense_variant V486I 1456G>A BTCA-JP 1 67292585 67292585 single base substitution C T missense_variant V753I 2257G>A BTCA-JP 1 67299842 67299842 deletion of <=200bp A - downstream_gene_variant BTCA-JP 1 67299842 67299842 deletion of <=200bp A - intron_variant BTCA-JP 1 67313153 67313153 deletion of <=200bp T - downstream_gene_variant BTCA-JP 1 67313153 67313153 deletion of <=200bp T - intron_variant BTCA-JP 1 67313251 67313251 single base substitution C G 3_prime_UTR_variant BTCA-JP 1 67313251 67313251 single base substitution C G downstream_gene_variant BTCA-JP 1 67313251 67313251 single base substitution C G intron_variant BTCA-JP 1 67313251 67313251 single base substitution C G missense_variant D149H 445G>C BTCA-JP 1 67313251 67313251 single base substitution C G missense_variant D169H 505G>C BTCA-JP 1 67313251 67313251 single base substitution C G missense_variant D403H 1207G>C BTCA-JP 1 67359186 67359186 deletion of <=200bp A - intron_variant CESC-US 1 67340544 67340544 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant CESC-US 1 67340544 67340544 single base substitution G C intron_variant CESC-US 1 67340544 67340544 single base substitution G C synonymous_variant L240L 720C>G CESC-US 1 67340544 67340544 single base substitution G C synonymous_variant L6L 18C>G CESC-US 1 67340544 67340544 single base substitution G C upstream_gene_variant CESC-US 1 67359062 67359062 single base substitution C T 3_prime_UTR_variant CESC-US 1 67359062 67359062 single base substitution C T 5_prime_UTR_variant CESC-US 1 67359062 67359062 single base substitution C T exon_variant CESC-US 1 67359062 67359062 single base substitution C T intron_variant CESC-US 1 67359062 67359062 single base substitution C T missense_variant R127Q 380G>A CLLE-ES 1 67292091 67292091 single base substitution C G intron_variant CLLE-ES 1 67303123 67303123 single base substitution G C downstream_gene_variant CLLE-ES 1 67303123 67303123 single base substitution G C intron_variant CLLE-ES 1 67324077 67324077 single base substitution G A downstream_gene_variant CLLE-ES 1 67324077 67324077 single base substitution G A intron_variant CLLE-ES 1 67329613 67329613 single base substitution T A intron_variant CLLE-ES 1 67329613 67329613 single base substitution T A upstream_gene_variant CLLE-ES 1 67335215 67335215 deletion of <=200bp G - downstream_gene_variant CLLE-ES 1 67335215 67335215 deletion of <=200bp G - intron_variant CLLE-ES 1 67351172 67351172 single base substitution C T intron_variant CLLE-ES 1 67351467 67351467 single base substitution G T intron_variant CLLE-ES 1 67370121 67370121 single base substitution T C downstream_gene_variant CLLE-ES 1 67370121 67370121 single base substitution T C intron_variant CLLE-ES 1 67381349 67381349 single base substitution A T intron_variant CLLE-ES 1 67385112 67385112 single base substitution G C downstream_gene_variant CLLE-ES 1 67385112 67385112 single base substitution G C intron_variant CLLE-ES 1 67388865 67388865 single base substitution G T intron_variant COAD-US 1 67288097 67288097 single base substitution G A 3_prime_UTR_variant COAD-US 1 67288097 67288097 single base substitution G A stop_gained Q528* 1582C>T COAD-US 1 67288097 67288097 single base substitution G A stop_gained Q548* 1642C>T COAD-US 1 67288097 67288097 single base substitution G A stop_gained Q815* 2443C>T COAD-US 1 67299312 67299312 single base substitution T C 3_prime_UTR_variant COAD-US 1 67299312 67299312 single base substitution T C downstream_gene_variant COAD-US 1 67299312 67299312 single base substitution T C missense_variant I403V 1207A>G COAD-US 1 67299312 67299312 single base substitution T C missense_variant I423V 1267A>G COAD-US 1 67299312 67299312 single base substitution T C missense_variant I657V 1969A>G COAD-US 1 67306260 67306260 single base substitution A G 3_prime_UTR_variant COAD-US 1 67306260 67306260 single base substitution A G synonymous_variant H208H 624T>C COAD-US 1 67306260 67306260 single base substitution A G synonymous_variant H228H 684T>C COAD-US 1 67306260 67306260 single base substitution A G synonymous_variant H462H 1386T>C COAD-US 1 67306260 67306260 single base substitution A G synonymous_variant H84H 252T>C COAD-US 1 67306261 67306261 single base substitution T A 3_prime_UTR_variant COAD-US 1 67306261 67306261 single base substitution T A missense_variant H208L 623A>T COAD-US 1 67306261 67306261 single base substitution T A missense_variant H228L 683A>T COAD-US 1 67306261 67306261 single base substitution T A missense_variant H462L 1385A>T COAD-US 1 67306261 67306261 single base substitution T A missense_variant H84L 251A>T COAD-US 1 67327829 67327829 insertion of <=200bp - T downstream_gene_variant COAD-US 1 67327829 67327829 insertion of <=200bp - T splice_donor_variant COAD-US 1 67340576 67340576 insertion of <=200bp - T 5_prime_UTR_variant COAD-US 1 67340576 67340576 insertion of <=200bp - T frameshift_variant E230E? COAD-US 1 67340576 67340576 insertion of <=200bp - T intron_variant COAD-US 1 67340576 67340576 insertion of <=200bp - T upstream_gene_variant COAD-US 1 67390426 67390426 deletion of <=200bp T - 5_prime_UTR_variant COAD-US 1 67390426 67390426 deletion of <=200bp T - exon_variant COAD-US 1 67390426 67390426 deletion of <=200bp T - frameshift_variant K30 COAD-US 1 67390426 67390426 deletion of <=200bp T - upstream_gene_variant COAD-US 1 67391832 67391832 single base substitution G T upstream_gene_variant COAD-US 1 67391892 67391892 single base substitution G A upstream_gene_variant COAD-US 1 67391895 67391895 single base substitution G C upstream_gene_variant COCA-CN 1 67287927 67287927 single base substitution T A intron_variant COCA-CN 1 67292643 67292643 single base substitution T C 3_prime_UTR_variant COCA-CN 1 67292643 67292643 single base substitution T C synonymous_variant Q446Q 1338A>G COCA-CN 1 67292643 67292643 single base substitution T C synonymous_variant Q466Q 1398A>G COCA-CN 1 67292643 67292643 single base substitution T C synonymous_variant Q733Q 2199A>G COCA-CN 1 67293492 67293492 single base substitution A G intron_variant COCA-CN 1 67293492 67293492 single base substitution A G splice_region_variant COCA-CN 1 67299550 67299550 single base substitution A G downstream_gene_variant COCA-CN 1 67299550 67299550 single base substitution A G intron_variant COCA-CN 1 67306433 67306433 single base substitution C T intron_variant COCA-CN 1 67359100 67359100 single base substitution T C intron_variant COCA-CN 1 67359100 67359100 single base substitution T C splice_region_variant COCA-CN 1 67394925 67394925 single base substitution G A upstream_gene_variant EOPC-DE 1 67294620 67294620 single base substitution C T intron_variant EOPC-DE 1 67320147 67320147 single base substitution C T intron_variant EOPC-DE 1 67359765 67359765 single base substitution G A intron_variant ESAD-UK 1 67275697 67275697 single base substitution T C downstream_gene_variant ESAD-UK 1 67276591 67276591 single base substitution T A downstream_gene_variant ESAD-UK 1 67277644 67277644 single base substitution T G downstream_gene_variant ESAD-UK 1 67278469 67278469 deletion of <=200bp A - downstream_gene_variant ESAD-UK 1 67278514 67278514 single base substitution G T downstream_gene_variant ESAD-UK 1 67279694 67279694 single base substitution A C 3_prime_UTR_variant ESAD-UK 1 67280243 67280243 single base substitution C T intron_variant ESAD-UK 1 67283306 67283306 single base substitution C T intron_variant ESAD-UK 1 67285592 67285592 single base substitution T A intron_variant ESAD-UK 1 67286497 67286497 single base substitution T A intron_variant ESAD-UK 1 67288108 67288108 single base substitution T C 3_prime_UTR_variant ESAD-UK 1 67288108 67288108 single base substitution T C missense_variant D524G 1571A>G ESAD-UK 1 67288108 67288108 single base substitution T C missense_variant D544G 1631A>G ESAD-UK 1 67288108 67288108 single base substitution T C missense_variant D811G 2432A>G ESAD-UK 1 67288109 67288109 single base substitution C A 3_prime_UTR_variant ESAD-UK 1 67288109 67288109 single base substitution C A missense_variant D524Y 1570G>T ESAD-UK 1 67288109 67288109 single base substitution C A missense_variant D544Y 1630G>T ESAD-UK 1 67288109 67288109 single base substitution C A missense_variant D811Y 2431G>T ESAD-UK 1 67288575 67288575 deletion of <=200bp T - intron_variant ESAD-UK 1 67288575 67288575 insertion of <=200bp - T intron_variant ESAD-UK 1 67290775 67290775 single base substitution C A intron_variant ESAD-UK 1 67291267 67291267 single base substitution C A intron_variant ESAD-UK 1 67292049 67292049 single base substitution T A intron_variant ESAD-UK 1 67292719 67292719 single base substitution T C 3_prime_UTR_variant ESAD-UK 1 67292719 67292719 single base substitution T C missense_variant Y421C 1262A>G ESAD-UK 1 67292719 67292719 single base substitution T C missense_variant Y441C 1322A>G ESAD-UK 1 67292719 67292719 single base substitution T C missense_variant Y708C 2123A>G ESAD-UK 1 67292744 67292744 single base substitution A C intron_variant ESAD-UK 1 67292898 67292898 single base substitution T A intron_variant ESAD-UK 1 67293173 67293173 insertion of <=200bp - A intron_variant ESAD-UK 1 67293651 67293651 single base substitution T C intron_variant ESAD-UK 1 67293976 67293976 single base substitution G A intron_variant ESAD-UK 1 67295544 67295544 single base substitution A C intron_variant ESAD-UK 1 67295760 67295760 single base substitution A C intron_variant ESAD-UK 1 67296070 67296070 single base substitution C A intron_variant ESAD-UK 1 67299495 67299495 single base substitution T G downstream_gene_variant ESAD-UK 1 67299495 67299495 single base substitution T G intron_variant ESAD-UK 1 67300197 67300197 single base substitution A C downstream_gene_variant ESAD-UK 1 67300197 67300197 single base substitution A C intron_variant ESAD-UK 1 67300590 67300590 single base substitution G A downstream_gene_variant ESAD-UK 1 67300590 67300590 single base substitution G A intron_variant ESAD-UK 1 67301412 67301412 single base substitution A C downstream_gene_variant ESAD-UK 1 67301412 67301412 single base substitution A C intron_variant ESAD-UK 1 67301412 67301412 single base substitution A C missense_variant F290V 868T>G ESAD-UK 1 67301412 67301412 single base substitution A C missense_variant F310V 928T>G ESAD-UK 1 67301412 67301412 single base substitution A C missense_variant F544V 1630T>G ESAD-UK 1 67305631 67305631 single base substitution G A intron_variant ESAD-UK 1 67305652 67305652 single base substitution G C intron_variant ESAD-UK 1 67309005 67309005 single base substitution G A downstream_gene_variant ESAD-UK 1 67309005 67309005 single base substitution G A intron_variant ESAD-UK 1 67312892 67312892 single base substitution A C downstream_gene_variant ESAD-UK 1 67312892 67312892 single base substitution A C intron_variant ESAD-UK 1 67312893 67312893 single base substitution A C downstream_gene_variant ESAD-UK 1 67312893 67312893 single base substitution A C intron_variant ESAD-UK 1 67314064 67314064 single base substitution A C intron_variant ESAD-UK 1 67314102 67314102 single base substitution G T intron_variant ESAD-UK 1 67314372 67314372 insertion of <=200bp - TA intron_variant ESAD-UK 1 67315403 67315403 single base substitution T C intron_variant ESAD-UK 1 67316056 67316056 single base substitution T G intron_variant ESAD-UK 1 67316203 67316203 single base substitution A C intron_variant ESAD-UK 1 67317216 67317240 deletion of <=200bp TTAAAAGAAGAGAAATCATAGTGTG - intron_variant ESAD-UK 1 67317648 67317648 single base substitution A C intron_variant ESAD-UK 1 67317891 67317891 single base substitution T G intron_variant ESAD-UK 1 67318217 67318217 single base substitution A C intron_variant ESAD-UK 1 67318363 67318363 insertion of <=200bp - C intron_variant ESAD-UK 1 67322663 67322663 single base substitution A C downstream_gene_variant ESAD-UK 1 67322663 67322663 single base substitution A C intron_variant ESAD-UK 1 67322706 67322706 single base substitution T C downstream_gene_variant ESAD-UK 1 67322706 67322706 single base substitution T C intron_variant ESAD-UK 1 67323825 67323825 single base substitution A C downstream_gene_variant ESAD-UK 1 67323825 67323825 single base substitution A C intron_variant ESAD-UK 1 67323979 67323979 single base substitution G A downstream_gene_variant ESAD-UK 1 67323979 67323979 single base substitution G A intron_variant ESAD-UK 1 67324133 67324133 single base substitution G A downstream_gene_variant ESAD-UK 1 67324133 67324133 single base substitution G A intron_variant ESAD-UK 1 67325346 67325346 single base substitution T C downstream_gene_variant ESAD-UK 1 67325346 67325346 single base substitution T C intron_variant ESAD-UK 1 67327066 67327068 deletion of <=200bp ACA - downstream_gene_variant ESAD-UK 1 67327066 67327068 deletion of <=200bp ACA - intron_variant ESAD-UK 1 67327838 67327838 single base substitution G T 3_prime_UTR_variant ESAD-UK 1 67327838 67327838 single base substitution G T downstream_gene_variant ESAD-UK 1 67327838 67327838 single base substitution G T exon_variant ESAD-UK 1 67327838 67327838 single base substitution G T missense_variant T109K 326C>A ESAD-UK 1 67327838 67327838 single base substitution G T missense_variant T129K 386C>A ESAD-UK 1 67327838 67327838 single base substitution G T missense_variant T363K 1088C>A ESAD-UK 1 67327838 67327838 single base substitution G T missense_variant T50K 149C>A ESAD-UK 1 67327838 67327838 single base substitution G T missense_variant T96K 287C>A ESAD-UK 1 67328540 67328540 single base substitution G A intron_variant ESAD-UK 1 67328540 67328540 single base substitution G A upstream_gene_variant ESAD-UK 1 67328984 67328984 deletion of <=200bp T - intron_variant ESAD-UK 1 67328984 67328984 deletion of <=200bp T - upstream_gene_variant ESAD-UK 1 67329976 67329976 single base substitution G T intron_variant ESAD-UK 1 67329976 67329976 single base substitution G T upstream_gene_variant ESAD-UK 1 67330198 67330198 single base substitution G A intron_variant ESAD-UK 1 67330198 67330198 single base substitution G A upstream_gene_variant ESAD-UK 1 67331493 67331493 single base substitution T G downstream_gene_variant ESAD-UK 1 67331493 67331493 single base substitution T G intron_variant ESAD-UK 1 67331493 67331493 single base substitution T G upstream_gene_variant ESAD-UK 1 67333175 67333175 single base substitution A T downstream_gene_variant ESAD-UK 1 67333175 67333175 single base substitution A T intron_variant ESAD-UK 1 67334752 67334752 single base substitution T C downstream_gene_variant ESAD-UK 1 67334752 67334752 single base substitution T C intron_variant ESAD-UK 1 67334757 67334757 insertion of <=200bp - AAAT downstream_gene_variant ESAD-UK 1 67334757 67334757 insertion of <=200bp - AAAT intron_variant ESAD-UK 1 67335838 67335838 single base substitution C T downstream_gene_variant ESAD-UK 1 67335838 67335838 single base substitution C T intron_variant ESAD-UK 1 67336283 67336283 single base substitution A C downstream_gene_variant ESAD-UK 1 67336283 67336283 single base substitution A C intron_variant ESAD-UK 1 67336861 67336861 single base substitution C T 3_prime_UTR_variant ESAD-UK 1 67336861 67336861 single base substitution C T intron_variant ESAD-UK 1 67337745 67337745 single base substitution A T intron_variant ESAD-UK 1 67337745 67337745 single base substitution A T upstream_gene_variant ESAD-UK 1 67339018 67339018 single base substitution G A intron_variant ESAD-UK 1 67339018 67339018 single base substitution G A upstream_gene_variant ESAD-UK 1 67339117 67339117 single base substitution G T intron_variant ESAD-UK 1 67339117 67339117 single base substitution G T upstream_gene_variant ESAD-UK 1 67339958 67339958 single base substitution T G intron_variant ESAD-UK 1 67339958 67339958 single base substitution T G upstream_gene_variant ESAD-UK 1 67340117 67340117 single base substitution G A intron_variant ESAD-UK 1 67340117 67340117 single base substitution G A upstream_gene_variant ESAD-UK 1 67340206 67340206 single base substitution G A intron_variant ESAD-UK 1 67340206 67340206 single base substitution G A upstream_gene_variant ESAD-UK 1 67344696 67344696 single base substitution G A intron_variant ESAD-UK 1 67344696 67344696 single base substitution G A upstream_gene_variant ESAD-UK 1 67344964 67344964 single base substitution C T intron_variant ESAD-UK 1 67344964 67344964 single base substitution C T upstream_gene_variant ESAD-UK 1 67345174 67345174 single base substitution T G intron_variant ESAD-UK 1 67345174 67345174 single base substitution T G upstream_gene_variant ESAD-UK 1 67345656 67345656 single base substitution T G intron_variant ESAD-UK 1 67346289 67346289 single base substitution C T intron_variant ESAD-UK 1 67346768 67346768 single base substitution A G intron_variant ESAD-UK 1 67346777 67346777 single base substitution C T intron_variant ESAD-UK 1 67349242 67349242 single base substitution T C intron_variant ESAD-UK 1 67350487 67350487 single base substitution G A intron_variant ESAD-UK 1 67352449 67352449 single base substitution C T intron_variant ESAD-UK 1 67354795 67354795 single base substitution C A downstream_gene_variant ESAD-UK 1 67354795 67354795 single base substitution C A intron_variant ESAD-UK 1 67355001 67355001 single base substitution A G downstream_gene_variant ESAD-UK 1 67355001 67355001 single base substitution A G intron_variant ESAD-UK 1 67355479 67355479 single base substitution C T downstream_gene_variant ESAD-UK 1 67355479 67355479 single base substitution C T intron_variant ESAD-UK 1 67357294 67357294 single base substitution G A downstream_gene_variant ESAD-UK 1 67357294 67357294 single base substitution G A intron_variant ESAD-UK 1 67357301 67357301 single base substitution C T downstream_gene_variant ESAD-UK 1 67357301 67357301 single base substitution C T intron_variant ESAD-UK 1 67357708 67357708 single base substitution G T downstream_gene_variant ESAD-UK 1 67357708 67357708 single base substitution G T intron_variant ESAD-UK 1 67358046 67358046 insertion of <=200bp - A downstream_gene_variant ESAD-UK 1 67358046 67358046 insertion of <=200bp - A intron_variant ESAD-UK 1 67358387 67358387 single base substitution G A downstream_gene_variant ESAD-UK 1 67358387 67358387 single base substitution G A intron_variant ESAD-UK 1 67359516 67359516 single base substitution G T intron_variant ESAD-UK 1 67359604 67359604 single base substitution C T intron_variant ESAD-UK 1 67360486 67360487 deletion of <=200bp TA - intron_variant ESAD-UK 1 67361172 67361172 insertion of <=200bp - A intron_variant ESAD-UK 1 67361831 67361831 single base substitution T A intron_variant ESAD-UK 1 67363548 67363548 single base substitution G A intron_variant ESAD-UK 1 67365678 67365678 single base substitution A C downstream_gene_variant ESAD-UK 1 67365678 67365678 single base substitution A C intron_variant ESAD-UK 1 67365941 67365941 single base substitution C A downstream_gene_variant ESAD-UK 1 67365941 67365941 single base substitution C A intron_variant ESAD-UK 1 67365992 67365992 single base substitution C G downstream_gene_variant ESAD-UK 1 67365992 67365992 single base substitution C G intron_variant ESAD-UK 1 67366946 67366946 deletion of <=200bp T - downstream_gene_variant ESAD-UK 1 67366946 67366946 deletion of <=200bp T - intron_variant ESAD-UK 1 67367135 67367135 single base substitution C T downstream_gene_variant ESAD-UK 1 67367135 67367135 single base substitution C T intron_variant ESAD-UK 1 67372326 67372326 single base substitution A G intron_variant ESAD-UK 1 67372326 67372326 single base substitution A G upstream_gene_variant ESAD-UK 1 67374784 67374784 single base substitution A C intron_variant ESAD-UK 1 67374784 67374784 single base substitution A C upstream_gene_variant ESAD-UK 1 67378778 67378778 insertion of <=200bp - T intron_variant ESAD-UK 1 67383576 67383576 single base substitution C A downstream_gene_variant ESAD-UK 1 67383576 67383576 single base substitution C A intron_variant ESAD-UK 1 67390248 67390248 single base substitution A C intron_variant ESAD-UK 1 67392325 67392331 deletion of <=200bp AATTAGT - upstream_gene_variant ESAD-UK 1 67394341 67394345 deletion of <=200bp TTTTA - upstream_gene_variant ESCA-CN 1 67279678 67279678 single base substitution A T 3_prime_UTR_variant ESCA-CN 1 67299281 67299281 single base substitution G T 3_prime_UTR_variant ESCA-CN 1 67299281 67299281 single base substitution G T downstream_gene_variant ESCA-CN 1 67299281 67299281 single base substitution G T missense_variant A413D 1238C>A ESCA-CN 1 67299281 67299281 single base substitution G T missense_variant A433D 1298C>A ESCA-CN 1 67299281 67299281 single base substitution G T missense_variant A667D 2000C>A ESCA-CN 1 67313223 67313223 single base substitution A G 3_prime_UTR_variant ESCA-CN 1 67313223 67313223 single base substitution A G downstream_gene_variant ESCA-CN 1 67313223 67313223 single base substitution A G intron_variant ESCA-CN 1 67313223 67313223 single base substitution A G missense_variant M158T 473T>C ESCA-CN 1 67313223 67313223 single base substitution A G missense_variant M178T 533T>C ESCA-CN 1 67313223 67313223 single base substitution A G missense_variant M412T 1235T>C GBM-US 1 67301382 67301382 single base substitution C T downstream_gene_variant GBM-US 1 67301382 67301382 single base substitution C T intron_variant GBM-US 1 67301382 67301382 single base substitution C T missense_variant V300I 898G>A GBM-US 1 67301382 67301382 single base substitution C T missense_variant V320I 958G>A GBM-US 1 67301382 67301382 single base substitution C T missense_variant V554I 1660G>A GBM-US 1 67301450 67301450 single base substitution C T downstream_gene_variant GBM-US 1 67301450 67301450 single base substitution C T intron_variant GBM-US 1 67301450 67301450 single base substitution C T missense_variant R277H 830G>A GBM-US 1 67301450 67301450 single base substitution C T missense_variant R297H 890G>A GBM-US 1 67301450 67301450 single base substitution C T missense_variant R531H 1592G>A GBM-US 1 67313167 67313167 single base substitution C T downstream_gene_variant GBM-US 1 67313167 67313167 single base substitution C T intron_variant GBM-US 1 67313167 67313167 single base substitution C T missense_variant E177K 529G>A GBM-US 1 67313167 67313167 single base substitution C T missense_variant E197K 589G>A GBM-US 1 67313167 67313167 single base substitution C T missense_variant E431K 1291G>A GBM-US 1 67313167 67313167 single base substitution C T splice_region_variant KIRC-US 1 67301400 67301400 single base substitution C T downstream_gene_variant KIRC-US 1 67301400 67301400 single base substitution C T intron_variant KIRC-US 1 67301400 67301400 single base substitution C T missense_variant A294T 880G>A KIRC-US 1 67301400 67301400 single base substitution C T missense_variant A314T 940G>A KIRC-US 1 67301400 67301400 single base substitution C T missense_variant A548T 1642G>A KIRC-US 1 67340463 67340463 single base substitution C T intron_variant KIRC-US 1 67340463 67340463 single base substitution C T splice_donor_variant KIRC-US 1 67340463 67340463 single base substitution C T upstream_gene_variant KIRC-US 1 67358977 67358977 single base substitution T G 3_prime_UTR_variant KIRC-US 1 67358977 67358977 single base substitution T G 5_prime_UTR_variant KIRC-US 1 67358977 67358977 single base substitution T G exon_variant KIRC-US 1 67358977 67358977 single base substitution T G missense_variant E155D 465A>C KIRC-US 1 67390428 67390428 single base substitution T A 5_prime_UTR_variant KIRC-US 1 67390428 67390428 single base substitution T A exon_variant KIRC-US 1 67390428 67390428 single base substitution T A missense_variant K29N 87A>T KIRC-US 1 67390428 67390428 single base substitution T A upstream_gene_variant LAML-KR 1 67306054 67306054 single base substitution C A intron_variant LAML-KR 1 67323235 67323235 single base substitution G T downstream_gene_variant LAML-KR 1 67323235 67323235 single base substitution G T intron_variant LGG-US 1 67371036 67371036 insertion of <=200bp - A 3_prime_UTR_variant LGG-US 1 67371036 67371036 insertion of <=200bp - A 5_prime_UTR_variant LGG-US 1 67371036 67371036 insertion of <=200bp - A frameshift_variant K65I? LGG-US 1 67371036 67371036 insertion of <=200bp - A intron_variant LGG-US 1 67371036 67371036 insertion of <=200bp - A upstream_gene_variant LGG-US 1 67390426 67390426 deletion of <=200bp T - 5_prime_UTR_variant LGG-US 1 67390426 67390426 deletion of <=200bp T - exon_variant LGG-US 1 67390426 67390426 deletion of <=200bp T - frameshift_variant K30 LGG-US 1 67390426 67390426 deletion of <=200bp T - upstream_gene_variant LICA-CN 1 67358914 67358914 single base substitution T A downstream_gene_variant LICA-CN 1 67358914 67358914 single base substitution T A splice_region_variant LICA-FR 1 67280400 67280400 single base substitution A G intron_variant LICA-FR 1 67288099 67288099 single base substitution C A 3_prime_UTR_variant LICA-FR 1 67288099 67288099 single base substitution C A missense_variant G527V 1580G>T LICA-FR 1 67288099 67288099 single base substitution C A missense_variant G547V 1640G>T LICA-FR 1 67288099 67288099 single base substitution C A missense_variant G814V 2441G>T LICA-FR 1 67288201 67288201 single base substitution C T splice_acceptor_variant LICA-FR 1 67289358 67289358 single base substitution T C intron_variant LICA-FR 1 67291111 67291111 single base substitution G A intron_variant LICA-FR 1 67292560 67292560 single base substitution T C 3_prime_UTR_variant LICA-FR 1 67292560 67292560 single base substitution T C missense_variant Y474C 1421A>G LICA-FR 1 67292560 67292560 single base substitution T C missense_variant Y494C 1481A>G LICA-FR 1 67292560 67292560 single base substitution T C missense_variant Y761C 2282A>G LICA-FR 1 67293545 67293545 single base substitution A G 3_prime_UTR_variant LICA-FR 1 67293545 67293545 single base substitution A G intron_variant LICA-FR 1 67293545 67293545 single base substitution A G missense_variant C688R 2062T>C LICA-FR 1 67297991 67297991 single base substitution A G intron_variant LICA-FR 1 67299454 67299454 single base substitution T C downstream_gene_variant LICA-FR 1 67299454 67299454 single base substitution T C intron_variant LICA-FR 1 67303436 67303436 single base substitution T C 3_prime_UTR_variant LICA-FR 1 67303436 67303436 single base substitution T C missense_variant Q135R 404A>G LICA-FR 1 67303436 67303436 single base substitution T C missense_variant Q259R 776A>G LICA-FR 1 67303436 67303436 single base substitution T C missense_variant Q279R 836A>G LICA-FR 1 67303436 67303436 single base substitution T C missense_variant Q513R 1538A>G LICA-FR 1 67323219 67323219 insertion of <=200bp - T downstream_gene_variant LICA-FR 1 67323219 67323219 insertion of <=200bp - T intron_variant LICA-FR 1 67338179 67338179 single base substitution C T intron_variant LICA-FR 1 67338179 67338179 single base substitution C T upstream_gene_variant LICA-FR 1 67342679 67342679 single base substitution G T intron_variant LICA-FR 1 67342679 67342679 single base substitution G T upstream_gene_variant LICA-FR 1 67360444 67360444 single base substitution T C intron_variant LICA-FR 1 67369706 67369706 insertion of <=200bp - ATATATATATATATGC downstream_gene_variant LICA-FR 1 67369706 67369706 insertion of <=200bp - ATATATATATATATGC intron_variant LICA-FR 1 67369707 67369707 insertion of <=200bp - ATATATACATATGC downstream_gene_variant LICA-FR 1 67369707 67369707 insertion of <=200bp - ATATATACATATGC intron_variant LICA-FR 1 67369713 67369713 single base substitution C T downstream_gene_variant LICA-FR 1 67369713 67369713 single base substitution C T intron_variant LICA-FR 1 67394735 67394735 single base substitution A G upstream_gene_variant LIHC-US 1 67292730 67292730 single base substitution C T splice_acceptor_variant LIHC-US 1 67306354 67306354 single base substitution T C missense_variant E177G 530A>G LIHC-US 1 67306354 67306354 single base substitution T C missense_variant E197G 590A>G LIHC-US 1 67306354 67306354 single base substitution T C missense_variant E431G 1292A>G LIHC-US 1 67306354 67306354 single base substitution T C missense_variant K53R 158A>G LIHC-US 1 67306354 67306354 single base substitution T C splice_region_variant LIHC-US 1 67356850 67356850 single base substitution C T 3_prime_UTR_variant LIHC-US 1 67356850 67356850 single base substitution C T 5_prime_UTR_variant LIHC-US 1 67356850 67356850 single base substitution C T downstream_gene_variant LIHC-US 1 67356850 67356850 single base substitution C T exon_variant LIHC-US 1 67356850 67356850 single base substitution C T synonymous_variant L210L 630G>A LINC-JP 1 67286421 67286421 single base substitution C A intron_variant LINC-JP 1 67292356 67292356 single base substitution G A intron_variant LINC-JP 1 67296659 67296659 single base substitution C A intron_variant LINC-JP 1 67301512 67301512 single base substitution G A downstream_gene_variant LINC-JP 1 67301512 67301512 single base substitution G A intron_variant LINC-JP 1 67303430 67303430 single base substitution C T 3_prime_UTR_variant LINC-JP 1 67303430 67303430 single base substitution C T missense_variant R137K 410G>A LINC-JP 1 67303430 67303430 single base substitution C T missense_variant R261K 782G>A LINC-JP 1 67303430 67303430 single base substitution C T missense_variant R281K 842G>A LINC-JP 1 67303430 67303430 single base substitution C T missense_variant R515K 1544G>A LINC-JP 1 67308898 67308898 deletion of <=200bp T - downstream_gene_variant LINC-JP 1 67308898 67308898 deletion of <=200bp T - intron_variant LINC-JP 1 67313119 67313119 single base substitution G T downstream_gene_variant LINC-JP 1 67313119 67313119 single base substitution G T intron_variant LINC-JP 1 67317724 67317724 single base substitution T C intron_variant LINC-JP 1 67325972 67325972 single base substitution A G downstream_gene_variant LINC-JP 1 67325972 67325972 single base substitution A G intron_variant LINC-JP 1 67330733 67330733 single base substitution C T intron_variant LINC-JP 1 67330733 67330733 single base substitution C T upstream_gene_variant LINC-JP 1 67340416 67340416 single base substitution T A intron_variant LINC-JP 1 67340416 67340416 single base substitution T A upstream_gene_variant LINC-JP 1 67341629 67341629 single base substitution G T intron_variant LINC-JP 1 67341629 67341629 single base substitution G T upstream_gene_variant LINC-JP 1 67348311 67348311 single base substitution T C intron_variant LINC-JP 1 67348863 67348863 single base substitution C T intron_variant LINC-JP 1 67356569 67356569 single base substitution C A 3_prime_UTR_variant LINC-JP 1 67356569 67356569 single base substitution C A downstream_gene_variant LINC-JP 1 67356569 67356569 single base substitution C A intron_variant LINC-JP 1 67358971 67358971 single base substitution T C 3_prime_UTR_variant LINC-JP 1 67358971 67358971 single base substitution T C 5_prime_UTR_premature_start_codon_gain_variant LINC-JP 1 67358971 67358971 single base substitution T C exon_variant LINC-JP 1 67358971 67358971 single base substitution T C missense_variant I157M 471A>G LIRI-JP 1 67274880 67274880 single base substitution G T downstream_gene_variant LIRI-JP 1 67275313 67275313 single base substitution T C downstream_gene_variant LIRI-JP 1 67277221 67277221 single base substitution C T downstream_gene_variant LIRI-JP 1 67279307 67279307 single base substitution G A 3_prime_UTR_variant LIRI-JP 1 67279307 67279307 single base substitution G A downstream_gene_variant LIRI-JP 1 67279658 67279658 single base substitution C T 3_prime_UTR_variant LIRI-JP 1 67280342 67280342 single base substitution C T intron_variant LIRI-JP 1 67280681 67280681 single base substitution G A intron_variant LIRI-JP 1 67282962 67282962 single base substitution G A intron_variant LIRI-JP 1 67283229 67283229 single base substitution C T intron_variant LIRI-JP 1 67283374 67283374 single base substitution T C intron_variant LIRI-JP 1 67284341 67284341 single base substitution C T intron_variant LIRI-JP 1 67287007 67287007 single base substitution C A intron_variant LIRI-JP 1 67287163 67287163 single base substitution A G intron_variant LIRI-JP 1 67287628 67287628 single base substitution C T intron_variant LIRI-JP 1 67288258 67288258 single base substitution T C intron_variant LIRI-JP 1 67291849 67291849 single base substitution A C intron_variant LIRI-JP 1 67293798 67293798 single base substitution T C intron_variant LIRI-JP 1 67295099 67295099 single base substitution C A intron_variant LIRI-JP 1 67295334 67295334 single base substitution T C intron_variant LIRI-JP 1 67295652 67295652 single base substitution C A intron_variant LIRI-JP 1 67297763 67297763 single base substitution A C intron_variant LIRI-JP 1 67299504 67299504 single base substitution T C downstream_gene_variant LIRI-JP 1 67299504 67299504 single base substitution T C intron_variant LIRI-JP 1 67299743 67299743 single base substitution T C 3_prime_UTR_variant LIRI-JP 1 67299743 67299743 single base substitution T C downstream_gene_variant LIRI-JP 1 67299743 67299743 single base substitution T C missense_variant I354V 1060A>G LIRI-JP 1 67299743 67299743 single base substitution T C missense_variant I374V 1120A>G LIRI-JP 1 67299743 67299743 single base substitution T C missense_variant I608V 1822A>G LIRI-JP 1 67302908 67302908 single base substitution A T downstream_gene_variant LIRI-JP 1 67302908 67302908 single base substitution A T intron_variant LIRI-JP 1 67303350 67303350 single base substitution T A intron_variant LIRI-JP 1 67303350 67303350 single base substitution T A missense_variant T164S 490A>T LIRI-JP 1 67303350 67303350 single base substitution T A missense_variant T542S 1624A>T LIRI-JP 1 67308774 67308774 single base substitution C T downstream_gene_variant LIRI-JP 1 67308774 67308774 single base substitution C T intron_variant LIRI-JP 1 67310497 67310497 single base substitution G A downstream_gene_variant LIRI-JP 1 67310497 67310497 single base substitution G A intron_variant LIRI-JP 1 67310649 67310649 single base substitution G T downstream_gene_variant LIRI-JP 1 67310649 67310649 single base substitution G T intron_variant LIRI-JP 1 67310660 67310660 single base substitution T A downstream_gene_variant LIRI-JP 1 67310660 67310660 single base substitution T A intron_variant LIRI-JP 1 67311148 67311148 single base substitution A T downstream_gene_variant LIRI-JP 1 67311148 67311148 single base substitution A T intron_variant LIRI-JP 1 67311715 67311715 single base substitution C T downstream_gene_variant LIRI-JP 1 67311715 67311715 single base substitution C T intron_variant LIRI-JP 1 67312589 67312589 single base substitution T C downstream_gene_variant LIRI-JP 1 67312589 67312589 single base substitution T C intron_variant LIRI-JP 1 67317544 67317544 single base substitution A C intron_variant LIRI-JP 1 67319493 67319493 single base substitution A T intron_variant LIRI-JP 1 67319645 67319645 single base substitution T C intron_variant LIRI-JP 1 67323816 67323816 single base substitution T A downstream_gene_variant LIRI-JP 1 67323816 67323816 single base substitution T A intron_variant LIRI-JP 1 67327506 67327506 single base substitution A G downstream_gene_variant LIRI-JP 1 67327506 67327506 single base substitution A G intron_variant LIRI-JP 1 67328461 67328461 single base substitution C A intron_variant LIRI-JP 1 67328461 67328461 single base substitution C A upstream_gene_variant LIRI-JP 1 67328775 67328794 deletion of <=200bp TATTCAAATCATCAAAAATA - intron_variant LIRI-JP 1 67328775 67328794 deletion of <=200bp TATTCAAATCATCAAAAATA - upstream_gene_variant LIRI-JP 1 67333491 67333491 single base substitution G A downstream_gene_variant LIRI-JP 1 67333491 67333491 single base substitution G A intron_variant LIRI-JP 1 67333623 67333623 single base substitution T C downstream_gene_variant LIRI-JP 1 67333623 67333623 single base substitution T C intron_variant LIRI-JP 1 67335098 67335098 single base substitution A T downstream_gene_variant LIRI-JP 1 67335098 67335098 single base substitution A T intron_variant LIRI-JP 1 67337362 67337362 single base substitution A C intron_variant LIRI-JP 1 67337362 67337362 single base substitution A C upstream_gene_variant LIRI-JP 1 67339203 67339203 single base substitution G T intron_variant LIRI-JP 1 67339203 67339203 single base substitution G T upstream_gene_variant LIRI-JP 1 67340316 67340316 single base substitution A G intron_variant LIRI-JP 1 67340316 67340316 single base substitution A G upstream_gene_variant LIRI-JP 1 67340365 67340365 single base substitution C A intron_variant LIRI-JP 1 67340365 67340365 single base substitution C A upstream_gene_variant LIRI-JP 1 67340879 67340879 single base substitution C T intron_variant LIRI-JP 1 67340879 67340879 single base substitution C T upstream_gene_variant LIRI-JP 1 67342215 67342215 single base substitution G A intron_variant LIRI-JP 1 67342215 67342215 single base substitution G A upstream_gene_variant LIRI-JP 1 67345576 67345576 single base substitution C G intron_variant LIRI-JP 1 67347016 67347016 single base substitution C A intron_variant LIRI-JP 1 67347557 67347557 single base substitution A T intron_variant LIRI-JP 1 67348474 67348474 single base substitution T C intron_variant LIRI-JP 1 67349204 67349204 single base substitution G A intron_variant LIRI-JP 1 67351716 67351716 single base substitution T C intron_variant LIRI-JP 1 67352602 67352602 single base substitution A G intron_variant LIRI-JP 1 67352621 67352621 single base substitution C T intron_variant LIRI-JP 1 67352796 67352796 single base substitution G A intron_variant LIRI-JP 1 67353205 67353205 single base substitution A T intron_variant LIRI-JP 1 67353470 67353470 single base substitution T A intron_variant LIRI-JP 1 67353891 67353891 single base substitution C A intron_variant LIRI-JP 1 67356703 67356703 single base substitution C T 3_prime_UTR_variant LIRI-JP 1 67356703 67356703 single base substitution C T downstream_gene_variant LIRI-JP 1 67356703 67356703 single base substitution C T intron_variant LIRI-JP 1 67363813 67363813 single base substitution G A intron_variant LIRI-JP 1 67371098 67371098 single base substitution A T intron_variant LIRI-JP 1 67371098 67371098 single base substitution A T upstream_gene_variant LIRI-JP 1 67371540 67371540 single base substitution T C intron_variant LIRI-JP 1 67371540 67371540 single base substitution T C upstream_gene_variant LIRI-JP 1 67372209 67372209 single base substitution T C intron_variant LIRI-JP 1 67372209 67372209 single base substitution T C upstream_gene_variant LIRI-JP 1 67377194 67377194 single base substitution T C intron_variant LIRI-JP 1 67377194 67377194 single base substitution T C upstream_gene_variant LIRI-JP 1 67377317 67377317 single base substitution T C intron_variant LIRI-JP 1 67377317 67377317 single base substitution T C upstream_gene_variant LIRI-JP 1 67379614 67379614 single base substitution C A intron_variant LIRI-JP 1 67381249 67381249 single base substitution T C intron_variant LIRI-JP 1 67387081 67387081 single base substitution A C exon_variant LIRI-JP 1 67387081 67387081 single base substitution A C intron_variant LIRI-JP 1 67387254 67387254 single base substitution A G intron_variant LIRI-JP 1 67387353 67387353 single base substitution C A intron_variant LIRI-JP 1 67388787 67388787 single base substitution T C intron_variant LIRI-JP 1 67393074 67393074 single base substitution A G upstream_gene_variant LIRI-JP 1 67394019 67394019 single base substitution A G upstream_gene_variant LIRI-JP 1 67394945 67394945 single base substitution G T upstream_gene_variant LIRI-JP 1 67395407 67395407 single base substitution A G upstream_gene_variant LUSC-KR 1 67274614 67274614 single base substitution C A downstream_gene_variant LUSC-KR 1 67278398 67278398 single base substitution G T downstream_gene_variant LUSC-KR 1 67281279 67281279 single base substitution A C intron_variant LUSC-KR 1 67282190 67282190 single base substitution C T intron_variant LUSC-KR 1 67283965 67283965 single base substitution T A intron_variant LUSC-KR 1 67287827 67287827 single base substitution T C intron_variant LUSC-KR 1 67289438 67289438 single base substitution T C intron_variant LUSC-KR 1 67290245 67290245 single base substitution G C intron_variant LUSC-KR 1 67294890 67294890 single base substitution C A intron_variant LUSC-KR 1 67299722 67299722 single base substitution C T 3_prime_UTR_variant LUSC-KR 1 67299722 67299722 single base substitution C T downstream_gene_variant LUSC-KR 1 67299722 67299722 single base substitution C T missense_variant D361N 1081G>A LUSC-KR 1 67299722 67299722 single base substitution C T missense_variant D381N 1141G>A LUSC-KR 1 67299722 67299722 single base substitution C T missense_variant D615N 1843G>A LUSC-KR 1 67301806 67301806 single base substitution C T downstream_gene_variant LUSC-KR 1 67301806 67301806 single base substitution C T intron_variant LUSC-KR 1 67301923 67301923 single base substitution A G downstream_gene_variant LUSC-KR 1 67301923 67301923 single base substitution A G intron_variant LUSC-KR 1 67303842 67303842 single base substitution G T intron_variant LUSC-KR 1 67305586 67305586 single base substitution G A intron_variant LUSC-KR 1 67306769 67306769 single base substitution G A intron_variant LUSC-KR 1 67314231 67314231 single base substitution G A intron_variant LUSC-KR 1 67315633 67315633 single base substitution C G intron_variant LUSC-KR 1 67315909 67315909 single base substitution G C intron_variant LUSC-KR 1 67321409 67321409 single base substitution G C downstream_gene_variant LUSC-KR 1 67321409 67321409 single base substitution G C intron_variant LUSC-KR 1 67322779 67322779 single base substitution G C downstream_gene_variant LUSC-KR 1 67322779 67322779 single base substitution G C intron_variant LUSC-KR 1 67323235 67323235 single base substitution G T downstream_gene_variant LUSC-KR 1 67323235 67323235 single base substitution G T intron_variant LUSC-KR 1 67326349 67326349 single base substitution G C downstream_gene_variant LUSC-KR 1 67326349 67326349 single base substitution G C intron_variant LUSC-KR 1 67332428 67332428 single base substitution T A downstream_gene_variant LUSC-KR 1 67332428 67332428 single base substitution T A intron_variant LUSC-KR 1 67332428 67332428 single base substitution T A upstream_gene_variant LUSC-KR 1 67336342 67336342 single base substitution G A downstream_gene_variant LUSC-KR 1 67336342 67336342 single base substitution G A intron_variant LUSC-KR 1 67336680 67336680 single base substitution C A 3_prime_UTR_variant LUSC-KR 1 67336680 67336680 single base substitution C A intron_variant LUSC-KR 1 67337405 67337405 single base substitution A T intron_variant LUSC-KR 1 67337405 67337405 single base substitution A T upstream_gene_variant LUSC-KR 1 67337629 67337629 single base substitution A C intron_variant LUSC-KR 1 67337629 67337629 single base substitution A C upstream_gene_variant LUSC-KR 1 67338527 67338527 single base substitution C A intron_variant LUSC-KR 1 67338527 67338527 single base substitution C A upstream_gene_variant LUSC-KR 1 67339358 67339358 single base substitution G C intron_variant LUSC-KR 1 67339358 67339358 single base substitution G C upstream_gene_variant LUSC-KR 1 67341171 67341171 single base substitution C T intron_variant LUSC-KR 1 67341171 67341171 single base substitution C T upstream_gene_variant LUSC-KR 1 67343459 67343459 single base substitution G A intron_variant LUSC-KR 1 67343459 67343459 single base substitution G A upstream_gene_variant LUSC-KR 1 67344127 67344127 single base substitution G T intron_variant LUSC-KR 1 67344127 67344127 single base substitution G T upstream_gene_variant LUSC-KR 1 67344824 67344824 single base substitution G A intron_variant LUSC-KR 1 67344824 67344824 single base substitution G A upstream_gene_variant LUSC-KR 1 67345192 67345192 single base substitution G C intron_variant LUSC-KR 1 67345192 67345192 single base substitution G C upstream_gene_variant LUSC-KR 1 67345193 67345193 single base substitution T C intron_variant LUSC-KR 1 67345193 67345193 single base substitution T C upstream_gene_variant LUSC-KR 1 67348858 67348858 single base substitution C T intron_variant LUSC-KR 1 67350874 67350874 single base substitution C G intron_variant LUSC-KR 1 67358541 67358541 single base substitution A T downstream_gene_variant LUSC-KR 1 67358541 67358541 single base substitution A T intron_variant LUSC-KR 1 67358682 67358682 single base substitution G A downstream_gene_variant LUSC-KR 1 67358682 67358682 single base substitution G A intron_variant LUSC-KR 1 67358736 67358736 single base substitution A G downstream_gene_variant LUSC-KR 1 67358736 67358736 single base substitution A G intron_variant LUSC-KR 1 67361074 67361074 single base substitution C A intron_variant LUSC-KR 1 67366362 67366362 single base substitution A C downstream_gene_variant LUSC-KR 1 67366362 67366362 single base substitution A C intron_variant LUSC-KR 1 67368413 67368413 single base substitution G A downstream_gene_variant LUSC-KR 1 67368413 67368413 single base substitution G A intron_variant LUSC-KR 1 67370296 67370296 single base substitution C A downstream_gene_variant LUSC-KR 1 67370296 67370296 single base substitution C A intron_variant LUSC-KR 1 67378840 67378840 single base substitution G A intron_variant LUSC-KR 1 67379525 67379525 single base substitution C A intron_variant LUSC-KR 1 67391036 67391036 single base substitution G T upstream_gene_variant LUSC-KR 1 67392197 67392197 single base substitution A T upstream_gene_variant LUSC-KR 1 67392455 67392455 single base substitution G C upstream_gene_variant LUSC-US 1 67292639 67292639 single base substitution C A 3_prime_UTR_variant LUSC-US 1 67292639 67292639 single base substitution C A stop_gained E448* 1342G>T LUSC-US 1 67292639 67292639 single base substitution C A stop_gained E468* 1402G>T LUSC-US 1 67292639 67292639 single base substitution C A stop_gained E735* 2203G>T LUSC-US 1 67337155 67337155 single base substitution T A 3_prime_UTR_variant LUSC-US 1 67337155 67337155 single base substitution T A stop_gained R13* 37A>T LUSC-US 1 67337155 67337155 single base substitution T A stop_gained R26* 76A>T LUSC-US 1 67337155 67337155 single base substitution T A stop_gained R280* 838A>T LUSC-US 1 67337155 67337155 single base substitution T A stop_gained R46* 136A>T LUSC-US 1 67390477 67390477 single base substitution G C 5_prime_UTR_variant LUSC-US 1 67390477 67390477 single base substitution G C exon_variant LUSC-US 1 67390477 67390477 single base substitution G C missense_variant A13G 38C>G LUSC-US 1 67390477 67390477 single base substitution G C upstream_gene_variant MALY-DE 1 67277386 67277386 insertion of <=200bp - A downstream_gene_variant MALY-DE 1 67283268 67283268 deletion of <=200bp A - intron_variant MALY-DE 1 67288151 67288151 single base substitution T A 3_prime_UTR_variant MALY-DE 1 67288151 67288151 single base substitution T A missense_variant T510S 1528A>T MALY-DE 1 67288151 67288151 single base substitution T A missense_variant T530S 1588A>T MALY-DE 1 67288151 67288151 single base substitution T A missense_variant T797S 2389A>T MALY-DE 1 67291143 67291143 single base substitution C T intron_variant MALY-DE 1 67293173 67293173 insertion of <=200bp - A intron_variant MALY-DE 1 67301873 67301873 single base substitution A G downstream_gene_variant MALY-DE 1 67301873 67301873 single base substitution A G intron_variant MALY-DE 1 67302442 67302442 single base substitution C T downstream_gene_variant MALY-DE 1 67302442 67302442 single base substitution C T intron_variant MALY-DE 1 67311523 67311524 deletion of <=200bp GT - downstream_gene_variant MALY-DE 1 67311523 67311524 deletion of <=200bp GT - intron_variant MALY-DE 1 67314763 67314763 single base substitution C T intron_variant MALY-DE 1 67321997 67321997 deletion of <=200bp A - downstream_gene_variant MALY-DE 1 67321997 67321997 deletion of <=200bp A - intron_variant MALY-DE 1 67327330 67327330 single base substitution A G downstream_gene_variant MALY-DE 1 67327330 67327330 single base substitution A G intron_variant MALY-DE 1 67334800 67334801 deletion of <=200bp AT - downstream_gene_variant MALY-DE 1 67334800 67334801 deletion of <=200bp AT - intron_variant MALY-DE 1 67337901 67337901 insertion of <=200bp - TTAT intron_variant MALY-DE 1 67337901 67337901 insertion of <=200bp - TTAT upstream_gene_variant MALY-DE 1 67339105 67339105 deletion of <=200bp A - intron_variant MALY-DE 1 67339105 67339105 deletion of <=200bp A - upstream_gene_variant MALY-DE 1 67355012 67355012 single base substitution G T downstream_gene_variant MALY-DE 1 67355012 67355012 single base substitution G T intron_variant MALY-DE 1 67358780 67358780 single base substitution G T downstream_gene_variant MALY-DE 1 67358780 67358780 single base substitution G T intron_variant MALY-DE 1 67367940 67367940 single base substitution T A downstream_gene_variant MALY-DE 1 67367940 67367940 single base substitution T A intron_variant MALY-DE 1 67378814 67378814 single base substitution A C intron_variant MALY-DE 1 67381056 67381056 single base substitution G A intron_variant MALY-DE 1 67388892 67388892 single base substitution A G intron_variant MALY-DE 1 67393779 67393779 single base substitution C G upstream_gene_variant MELA-AU 1 67273672 67273672 single base substitution T C downstream_gene_variant MELA-AU 1 67273838 67273838 single base substitution C T downstream_gene_variant MELA-AU 1 67274397 67274397 single base substitution G A downstream_gene_variant MELA-AU 1 67274688 67274688 single base substitution G A downstream_gene_variant MELA-AU 1 67275727 67275727 single base substitution C T downstream_gene_variant MELA-AU 1 67276034 67276034 single base substitution G A downstream_gene_variant MELA-AU 1 67276061 67276061 single base substitution G A downstream_gene_variant MELA-AU 1 67276104 67276104 single base substitution G A downstream_gene_variant MELA-AU 1 67276205 67276205 single base substitution G A downstream_gene_variant MELA-AU 1 67276287 67276287 single base substitution G A downstream_gene_variant MELA-AU 1 67276616 67276616 single base substitution C T downstream_gene_variant MELA-AU 1 67276791 67276791 single base substitution C T downstream_gene_variant MELA-AU 1 67276816 67276816 single base substitution G A downstream_gene_variant MELA-AU 1 67276861 67276861 single base substitution G A downstream_gene_variant MELA-AU 1 67276913 67276913 single base substitution G A downstream_gene_variant MELA-AU 1 67277011 67277011 single base substitution G A downstream_gene_variant MELA-AU 1 67277274 67277274 single base substitution G A downstream_gene_variant MELA-AU 1 67277369 67277369 single base substitution T A downstream_gene_variant MELA-AU 1 67277384 67277384 single base substitution G A downstream_gene_variant MELA-AU 1 67277527 67277527 single base substitution T C downstream_gene_variant MELA-AU 1 67277744 67277744 single base substitution A G downstream_gene_variant MELA-AU 1 67277786 67277786 single base substitution C T downstream_gene_variant MELA-AU 1 67277788 67277788 single base substitution G A downstream_gene_variant MELA-AU 1 67277896 67277896 single base substitution A G downstream_gene_variant MELA-AU 1 67278339 67278339 single base substitution G A downstream_gene_variant MELA-AU 1 67278392 67278392 single base substitution C T downstream_gene_variant MELA-AU 1 67278437 67278437 single base substitution T C downstream_gene_variant MELA-AU 1 67278478 67278478 single base substitution A T downstream_gene_variant MELA-AU 1 67278649 67278649 single base substitution G A 3_prime_UTR_variant MELA-AU 1 67278649 67278649 single base substitution G A downstream_gene_variant MELA-AU 1 67279496 67279496 single base substitution T C 3_prime_UTR_variant MELA-AU 1 67279496 67279496 single base substitution T C downstream_gene_variant MELA-AU 1 67280309 67280309 single base substitution C T intron_variant MELA-AU 1 67280367 67280367 single base substitution G A intron_variant MELA-AU 1 67280477 67280477 single base substitution A G intron_variant MELA-AU 1 67280623 67280623 single base substitution G A intron_variant MELA-AU 1 67280906 67280906 single base substitution C T intron_variant MELA-AU 1 67280913 67280913 single base substitution G A intron_variant MELA-AU 1 67281249 67281249 single base substitution G A intron_variant MELA-AU 1 67281326 67281326 single base substitution G A intron_variant MELA-AU 1 67281649 67281649 single base substitution C T intron_variant MELA-AU 1 67281805 67281805 single base substitution A G intron_variant MELA-AU 1 67281867 67281867 single base substitution A T intron_variant MELA-AU 1 67281985 67281985 single base substitution G A intron_variant MELA-AU 1 67282321 67282321 single base substitution G A intron_variant MELA-AU 1 67282816 67282816 single base substitution C T intron_variant MELA-AU 1 67282864 67282864 single base substitution C T intron_variant MELA-AU 1 67282952 67282952 single base substitution C T intron_variant MELA-AU 1 67283053 67283053 single base substitution C T intron_variant MELA-AU 1 67283284 67283284 single base substitution A G intron_variant MELA-AU 1 67283345 67283345 single base substitution G A intron_variant MELA-AU 1 67283426 67283426 single base substitution G A intron_variant MELA-AU 1 67283932 67283932 single base substitution G A intron_variant MELA-AU 1 67284204 67284204 single base substitution C T intron_variant MELA-AU 1 67284412 67284412 single base substitution G A intron_variant MELA-AU 1 67284955 67284955 single base substitution G A intron_variant MELA-AU 1 67285303 67285303 single base substitution G A intron_variant MELA-AU 1 67285973 67285973 single base substitution G A intron_variant MELA-AU 1 67286257 67286257 single base substitution A T intron_variant MELA-AU 1 67286872 67286872 single base substitution C T intron_variant MELA-AU 1 67287092 67287092 single base substitution A C intron_variant MELA-AU 1 67287130 67287130 single base substitution C T intron_variant MELA-AU 1 67287244 67287244 single base substitution G A intron_variant MELA-AU 1 67287621 67287621 single base substitution G A intron_variant MELA-AU 1 67287919 67287919 single base substitution G A intron_variant MELA-AU 1 67288385 67288385 single base substitution G A intron_variant MELA-AU 1 67288521 67288521 single base substitution C T intron_variant MELA-AU 1 67288571 67288571 single base substitution T A intron_variant MELA-AU 1 67289091 67289091 single base substitution C T intron_variant MELA-AU 1 67290096 67290096 single base substitution G A intron_variant MELA-AU 1 67291133 67291133 single base substitution G A intron_variant MELA-AU 1 67291623 67291623 single base substitution C T intron_variant MELA-AU 1 67291958 67291958 single base substitution G A intron_variant MELA-AU 1 67292376 67292376 single base substitution G A intron_variant MELA-AU 1 67292757 67292757 single base substitution A T intron_variant MELA-AU 1 67292988 67292988 single base substitution G A intron_variant MELA-AU 1 67293582 67293582 single base substitution G A 3_prime_UTR_variant MELA-AU 1 67293582 67293582 single base substitution G A intron_variant MELA-AU 1 67293582 67293582 single base substitution G A synonymous_variant I675I 2025C>T MELA-AU 1 67293611 67293611 single base substitution G A intron_variant MELA-AU 1 67293761 67293761 single base substitution A G intron_variant MELA-AU 1 67293824 67293824 single base substitution G A intron_variant MELA-AU 1 67293848 67293848 single base substitution G A intron_variant MELA-AU 1 67293935 67293935 single base substitution G A intron_variant MELA-AU 1 67293950 67293950 single base substitution C T intron_variant MELA-AU 1 67294470 67294470 single base substitution G A intron_variant MELA-AU 1 67294490 67294491 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 67294499 67294499 single base substitution G A intron_variant MELA-AU 1 67294548 67294548 single base substitution G A intron_variant MELA-AU 1 67294677 67294677 single base substitution C T intron_variant MELA-AU 1 67294817 67294818 multiple base substitution (>=2bp and <=200bp) CC TG intron_variant MELA-AU 1 67294867 67294867 single base substitution C T intron_variant MELA-AU 1 67294928 67294928 single base substitution G A intron_variant MELA-AU 1 67294964 67294964 single base substitution G A intron_variant MELA-AU 1 67295277 67295277 single base substitution G A intron_variant MELA-AU 1 67295467 67295467 single base substitution G A intron_variant MELA-AU 1 67295508 67295508 single base substitution A C intron_variant MELA-AU 1 67295552 67295552 single base substitution C T intron_variant MELA-AU 1 67295674 67295674 single base substitution G A intron_variant MELA-AU 1 67295705 67295705 single base substitution G A intron_variant MELA-AU 1 67295894 67295894 single base substitution G A intron_variant MELA-AU 1 67295957 67295957 single base substitution C T intron_variant MELA-AU 1 67296239 67296239 single base substitution C T intron_variant MELA-AU 1 67296359 67296359 single base substitution G A intron_variant MELA-AU 1 67296371 67296371 single base substitution G A intron_variant MELA-AU 1 67296448 67296448 single base substitution G A intron_variant MELA-AU 1 67296604 67296604 single base substitution G A intron_variant MELA-AU 1 67296643 67296643 single base substitution G A intron_variant MELA-AU 1 67296971 67296971 single base substitution G A intron_variant MELA-AU 1 67296993 67296993 single base substitution C T intron_variant MELA-AU 1 67297139 67297139 single base substitution A T intron_variant MELA-AU 1 67297249 67297249 single base substitution C T intron_variant MELA-AU 1 67297303 67297303 single base substitution C T intron_variant MELA-AU 1 67297307 67297307 single base substitution A C intron_variant MELA-AU 1 67297441 67297441 single base substitution G A intron_variant MELA-AU 1 67297858 67297858 single base substitution G A intron_variant MELA-AU 1 67297972 67297972 single base substitution G A intron_variant MELA-AU 1 67298376 67298376 single base substitution G A downstream_gene_variant MELA-AU 1 67298376 67298376 single base substitution G A intron_variant MELA-AU 1 67298610 67298610 single base substitution A T downstream_gene_variant MELA-AU 1 67298610 67298610 single base substitution A T intron_variant MELA-AU 1 67298660 67298660 single base substitution G A downstream_gene_variant MELA-AU 1 67298660 67298660 single base substitution G A intron_variant MELA-AU 1 67299142 67299142 single base substitution C T downstream_gene_variant MELA-AU 1 67299142 67299142 single base substitution C T intron_variant MELA-AU 1 67299390 67299390 single base substitution C T downstream_gene_variant MELA-AU 1 67299390 67299390 single base substitution C T splice_acceptor_variant MELA-AU 1 67299786 67299786 single base substitution C A 3_prime_UTR_variant MELA-AU 1 67299786 67299786 single base substitution C A downstream_gene_variant MELA-AU 1 67299786 67299786 single base substitution C A missense_variant W339C 1017G>T MELA-AU 1 67299786 67299786 single base substitution C A missense_variant W359C 1077G>T MELA-AU 1 67299786 67299786 single base substitution C A missense_variant W593C 1779G>T MELA-AU 1 67300523 67300523 single base substitution G A downstream_gene_variant MELA-AU 1 67300523 67300523 single base substitution G A intron_variant MELA-AU 1 67300530 67300530 single base substitution C G downstream_gene_variant MELA-AU 1 67300530 67300530 single base substitution C G intron_variant MELA-AU 1 67300856 67300856 single base substitution G A downstream_gene_variant MELA-AU 1 67300856 67300856 single base substitution G A intron_variant MELA-AU 1 67301151 67301151 single base substitution C T downstream_gene_variant MELA-AU 1 67301151 67301151 single base substitution C T intron_variant MELA-AU 1 67301599 67301599 single base substitution A T downstream_gene_variant MELA-AU 1 67301599 67301599 single base substitution A T intron_variant MELA-AU 1 67301806 67301806 single base substitution C T downstream_gene_variant MELA-AU 1 67301806 67301806 single base substitution C T intron_variant MELA-AU 1 67301891 67301891 single base substitution G A downstream_gene_variant MELA-AU 1 67301891 67301891 single base substitution G A intron_variant MELA-AU 1 67301994 67301994 single base substitution A G downstream_gene_variant MELA-AU 1 67301994 67301994 single base substitution A G intron_variant MELA-AU 1 67301998 67301998 single base substitution A G downstream_gene_variant MELA-AU 1 67301998 67301998 single base substitution A G intron_variant MELA-AU 1 67302031 67302031 single base substitution G A downstream_gene_variant MELA-AU 1 67302031 67302031 single base substitution G A intron_variant MELA-AU 1 67302223 67302223 single base substitution C T downstream_gene_variant MELA-AU 1 67302223 67302223 single base substitution C T intron_variant MELA-AU 1 67302301 67302301 single base substitution C T downstream_gene_variant MELA-AU 1 67302301 67302301 single base substitution C T intron_variant MELA-AU 1 67302341 67302341 single base substitution G A downstream_gene_variant MELA-AU 1 67302341 67302341 single base substitution G A intron_variant MELA-AU 1 67302362 67302362 single base substitution C T downstream_gene_variant MELA-AU 1 67302362 67302362 single base substitution C T intron_variant MELA-AU 1 67302893 67302893 single base substitution G A downstream_gene_variant MELA-AU 1 67302893 67302893 single base substitution G A intron_variant MELA-AU 1 67303288 67303288 single base substitution G A 3_prime_UTR_variant MELA-AU 1 67303288 67303288 single base substitution G A downstream_gene_variant MELA-AU 1 67303288 67303288 single base substitution G A intron_variant MELA-AU 1 67303342 67303342 single base substitution G A intron_variant MELA-AU 1 67303342 67303342 single base substitution G A synonymous_variant F166F 498C>T MELA-AU 1 67303342 67303342 single base substitution G A synonymous_variant F544F 1632C>T MELA-AU 1 67303698 67303698 single base substitution G A intron_variant MELA-AU 1 67303848 67303848 single base substitution G A intron_variant MELA-AU 1 67304087 67304087 single base substitution G A intron_variant MELA-AU 1 67304203 67304203 single base substitution G A intron_variant MELA-AU 1 67304681 67304681 single base substitution G A intron_variant MELA-AU 1 67304693 67304693 single base substitution A G intron_variant MELA-AU 1 67304785 67304785 single base substitution A T intron_variant MELA-AU 1 67304874 67304874 single base substitution G A intron_variant MELA-AU 1 67305632 67305632 single base substitution G A intron_variant MELA-AU 1 67306695 67306695 single base substitution C T intron_variant MELA-AU 1 67307165 67307165 single base substitution A G intron_variant MELA-AU 1 67307197 67307197 single base substitution C T intron_variant MELA-AU 1 67307298 67307298 single base substitution C T intron_variant MELA-AU 1 67307691 67307691 single base substitution C T intron_variant MELA-AU 1 67307819 67307819 single base substitution C T intron_variant MELA-AU 1 67307923 67307923 single base substitution T C intron_variant MELA-AU 1 67308058 67308058 single base substitution G A intron_variant MELA-AU 1 67308060 67308060 deletion of <=200bp T - intron_variant MELA-AU 1 67308428 67308428 single base substitution G A intron_variant MELA-AU 1 67308582 67308582 single base substitution G A intron_variant MELA-AU 1 67308640 67308640 single base substitution G A downstream_gene_variant MELA-AU 1 67308640 67308640 single base substitution G A intron_variant MELA-AU 1 67308784 67308784 single base substitution G A downstream_gene_variant MELA-AU 1 67308784 67308784 single base substitution G A intron_variant MELA-AU 1 67309332 67309334 multiple base substitution (>=2bp and <=200bp) GGA AAG downstream_gene_variant MELA-AU 1 67309332 67309334 multiple base substitution (>=2bp and <=200bp) GGA AAG intron_variant MELA-AU 1 67309372 67309372 single base substitution C T downstream_gene_variant MELA-AU 1 67309372 67309372 single base substitution C T intron_variant MELA-AU 1 67309760 67309760 single base substitution G A downstream_gene_variant MELA-AU 1 67309760 67309760 single base substitution G A intron_variant MELA-AU 1 67309843 67309843 single base substitution A C downstream_gene_variant MELA-AU 1 67309843 67309843 single base substitution A C intron_variant MELA-AU 1 67310161 67310161 single base substitution C T downstream_gene_variant MELA-AU 1 67310161 67310161 single base substitution C T intron_variant MELA-AU 1 67310759 67310759 single base substitution C T downstream_gene_variant MELA-AU 1 67310759 67310759 single base substitution C T intron_variant MELA-AU 1 67310801 67310801 single base substitution G A downstream_gene_variant MELA-AU 1 67310801 67310801 single base substitution G A intron_variant MELA-AU 1 67310861 67310861 single base substitution G A downstream_gene_variant MELA-AU 1 67310861 67310861 single base substitution G A intron_variant MELA-AU 1 67311270 67311270 single base substitution C T downstream_gene_variant MELA-AU 1 67311270 67311270 single base substitution C T intron_variant MELA-AU 1 67311312 67311312 single base substitution G A downstream_gene_variant MELA-AU 1 67311312 67311312 single base substitution G A intron_variant MELA-AU 1 67311358 67311358 single base substitution G A downstream_gene_variant MELA-AU 1 67311358 67311358 single base substitution G A intron_variant MELA-AU 1 67312116 67312116 single base substitution G A downstream_gene_variant MELA-AU 1 67312116 67312116 single base substitution G A intron_variant MELA-AU 1 67312144 67312144 single base substitution G A downstream_gene_variant MELA-AU 1 67312144 67312144 single base substitution G A intron_variant MELA-AU 1 67312401 67312401 single base substitution G A downstream_gene_variant MELA-AU 1 67312401 67312401 single base substitution G A intron_variant MELA-AU 1 67312431 67312431 single base substitution G A downstream_gene_variant MELA-AU 1 67312431 67312431 single base substitution G A intron_variant MELA-AU 1 67312599 67312599 single base substitution G A downstream_gene_variant MELA-AU 1 67312599 67312599 single base substitution G A intron_variant MELA-AU 1 67313324 67313324 single base substitution T C 3_prime_UTR_variant MELA-AU 1 67313324 67313324 single base substitution T C downstream_gene_variant MELA-AU 1 67313324 67313324 single base substitution T C intron_variant MELA-AU 1 67313324 67313324 single base substitution T C synonymous_variant V124V 372A>G MELA-AU 1 67313324 67313324 single base substitution T C synonymous_variant V144V 432A>G MELA-AU 1 67313324 67313324 single base substitution T C synonymous_variant V378V 1134A>G MELA-AU 1 67313545 67313545 single base substitution G A downstream_gene_variant MELA-AU 1 67313545 67313545 single base substitution G A intron_variant MELA-AU 1 67313636 67313636 single base substitution C T 3_prime_UTR_variant MELA-AU 1 67313636 67313636 single base substitution C T intron_variant MELA-AU 1 67314074 67314074 single base substitution C T intron_variant MELA-AU 1 67314247 67314247 single base substitution T C intron_variant MELA-AU 1 67314258 67314258 single base substitution G C intron_variant MELA-AU 1 67314775 67314775 single base substitution A G intron_variant MELA-AU 1 67314808 67314808 single base substitution T C intron_variant MELA-AU 1 67314810 67314810 single base substitution C T intron_variant MELA-AU 1 67314967 67314967 single base substitution G A intron_variant MELA-AU 1 67314979 67314979 single base substitution C T intron_variant MELA-AU 1 67315060 67315060 single base substitution C T intron_variant MELA-AU 1 67315119 67315119 single base substitution A T intron_variant MELA-AU 1 67315150 67315150 single base substitution C T intron_variant MELA-AU 1 67315157 67315157 single base substitution C T intron_variant MELA-AU 1 67315364 67315364 single base substitution C T intron_variant MELA-AU 1 67315639 67315639 single base substitution C T intron_variant MELA-AU 1 67315660 67315660 single base substitution G A intron_variant MELA-AU 1 67315780 67315780 single base substitution T C intron_variant MELA-AU 1 67315863 67315863 single base substitution G A intron_variant MELA-AU 1 67316006 67316006 single base substitution G A intron_variant MELA-AU 1 67316102 67316102 single base substitution G A intron_variant MELA-AU 1 67316180 67316180 single base substitution G A intron_variant MELA-AU 1 67316201 67316201 single base substitution G A intron_variant MELA-AU 1 67316556 67316556 single base substitution G A intron_variant MELA-AU 1 67317050 67317050 single base substitution A G intron_variant MELA-AU 1 67317144 67317144 single base substitution A C intron_variant MELA-AU 1 67317257 67317257 single base substitution C T intron_variant MELA-AU 1 67317281 67317281 single base substitution G A intron_variant MELA-AU 1 67317394 67317394 single base substitution G A intron_variant MELA-AU 1 67317418 67317418 single base substitution G A intron_variant MELA-AU 1 67317455 67317455 single base substitution A C intron_variant MELA-AU 1 67317727 67317727 single base substitution A T intron_variant MELA-AU 1 67318084 67318084 single base substitution G A intron_variant MELA-AU 1 67318272 67318272 single base substitution C T intron_variant MELA-AU 1 67318626 67318626 single base substitution G A intron_variant MELA-AU 1 67318666 67318666 single base substitution C T intron_variant MELA-AU 1 67318726 67318726 single base substitution G A intron_variant MELA-AU 1 67318734 67318734 single base substitution A G intron_variant MELA-AU 1 67319141 67319141 single base substitution G A intron_variant MELA-AU 1 67319412 67319412 single base substitution T G intron_variant MELA-AU 1 67319453 67319453 single base substitution C T intron_variant MELA-AU 1 67319495 67319495 single base substitution G A intron_variant MELA-AU 1 67319534 67319534 single base substitution G A intron_variant MELA-AU 1 67320209 67320209 single base substitution G C intron_variant MELA-AU 1 67320459 67320459 single base substitution C T intron_variant MELA-AU 1 67321198 67321198 single base substitution G A intron_variant MELA-AU 1 67321390 67321390 single base substitution T A intron_variant MELA-AU 1 67321640 67321640 single base substitution C T downstream_gene_variant MELA-AU 1 67321640 67321640 single base substitution C T intron_variant MELA-AU 1 67321970 67321970 single base substitution G A downstream_gene_variant MELA-AU 1 67321970 67321970 single base substitution G A intron_variant MELA-AU 1 67322728 67322728 single base substitution G A downstream_gene_variant MELA-AU 1 67322728 67322728 single base substitution G A intron_variant MELA-AU 1 67322980 67322980 single base substitution G A downstream_gene_variant MELA-AU 1 67322980 67322980 single base substitution G A intron_variant MELA-AU 1 67323029 67323030 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 1 67323029 67323030 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 67323886 67323886 single base substitution G A downstream_gene_variant MELA-AU 1 67323886 67323886 single base substitution G A intron_variant MELA-AU 1 67323887 67323887 single base substitution G A downstream_gene_variant MELA-AU 1 67323887 67323887 single base substitution G A intron_variant MELA-AU 1 67324014 67324014 single base substitution C T downstream_gene_variant MELA-AU 1 67324014 67324014 single base substitution C T intron_variant MELA-AU 1 67324032 67324032 single base substitution G A downstream_gene_variant MELA-AU 1 67324032 67324032 single base substitution G A intron_variant MELA-AU 1 67324145 67324145 single base substitution G A downstream_gene_variant MELA-AU 1 67324145 67324145 single base substitution G A intron_variant MELA-AU 1 67324271 67324271 single base substitution C T downstream_gene_variant MELA-AU 1 67324271 67324271 single base substitution C T intron_variant MELA-AU 1 67324621 67324621 single base substitution A C downstream_gene_variant MELA-AU 1 67324621 67324621 single base substitution A C intron_variant MELA-AU 1 67325078 67325078 single base substitution C T downstream_gene_variant MELA-AU 1 67325078 67325078 single base substitution C T intron_variant MELA-AU 1 67325111 67325111 single base substitution C T downstream_gene_variant MELA-AU 1 67325111 67325111 single base substitution C T intron_variant MELA-AU 1 67325147 67325147 single base substitution T C downstream_gene_variant MELA-AU 1 67325147 67325147 single base substitution T C intron_variant MELA-AU 1 67325284 67325284 single base substitution G A downstream_gene_variant MELA-AU 1 67325284 67325284 single base substitution G A intron_variant MELA-AU 1 67325463 67325463 single base substitution A G downstream_gene_variant MELA-AU 1 67325463 67325463 single base substitution A G intron_variant MELA-AU 1 67325522 67325522 single base substitution G A downstream_gene_variant MELA-AU 1 67325522 67325522 single base substitution G A intron_variant MELA-AU 1 67326008 67326008 single base substitution G A downstream_gene_variant MELA-AU 1 67326008 67326008 single base substitution G A intron_variant MELA-AU 1 67326193 67326193 single base substitution T C downstream_gene_variant MELA-AU 1 67326193 67326193 single base substitution T C intron_variant MELA-AU 1 67326554 67326554 single base substitution C A downstream_gene_variant MELA-AU 1 67326554 67326554 single base substitution C A intron_variant MELA-AU 1 67326631 67326631 single base substitution C T downstream_gene_variant MELA-AU 1 67326631 67326631 single base substitution C T intron_variant MELA-AU 1 67327267 67327267 single base substitution G A downstream_gene_variant MELA-AU 1 67327267 67327267 single base substitution G A intron_variant MELA-AU 1 67327674 67327674 single base substitution C T downstream_gene_variant MELA-AU 1 67327674 67327674 single base substitution C T intron_variant MELA-AU 1 67327763 67327763 single base substitution A G downstream_gene_variant MELA-AU 1 67327763 67327763 single base substitution A G intron_variant MELA-AU 1 67328238 67328238 single base substitution C T intron_variant MELA-AU 1 67328238 67328238 single base substitution C T upstream_gene_variant MELA-AU 1 67328322 67328322 single base substitution G A intron_variant MELA-AU 1 67328322 67328322 single base substitution G A upstream_gene_variant MELA-AU 1 67328458 67328458 single base substitution C T intron_variant MELA-AU 1 67328458 67328458 single base substitution C T upstream_gene_variant MELA-AU 1 67328651 67328651 single base substitution C T intron_variant MELA-AU 1 67328651 67328651 single base substitution C T upstream_gene_variant MELA-AU 1 67328696 67328696 single base substitution G A intron_variant MELA-AU 1 67328696 67328696 single base substitution G A upstream_gene_variant MELA-AU 1 67329199 67329199 single base substitution T C intron_variant MELA-AU 1 67329199 67329199 single base substitution T C upstream_gene_variant MELA-AU 1 67329366 67329366 single base substitution C T intron_variant MELA-AU 1 67329366 67329366 single base substitution C T upstream_gene_variant MELA-AU 1 67329396 67329396 single base substitution C T intron_variant MELA-AU 1 67329396 67329396 single base substitution C T upstream_gene_variant MELA-AU 1 67330254 67330254 single base substitution G A intron_variant MELA-AU 1 67330254 67330254 single base substitution G A upstream_gene_variant MELA-AU 1 67331129 67331129 single base substitution G A intron_variant MELA-AU 1 67331129 67331129 single base substitution G A upstream_gene_variant MELA-AU 1 67331213 67331213 single base substitution G A intron_variant MELA-AU 1 67331213 67331213 single base substitution G A upstream_gene_variant MELA-AU 1 67331313 67331313 single base substitution G A intron_variant MELA-AU 1 67331313 67331313 single base substitution G A upstream_gene_variant MELA-AU 1 67331477 67331477 single base substitution G A intron_variant MELA-AU 1 67331477 67331477 single base substitution G A upstream_gene_variant MELA-AU 1 67331560 67331560 single base substitution C T downstream_gene_variant MELA-AU 1 67331560 67331560 single base substitution C T intron_variant MELA-AU 1 67331560 67331560 single base substitution C T upstream_gene_variant MELA-AU 1 67331750 67331750 single base substitution G A downstream_gene_variant MELA-AU 1 67331750 67331750 single base substitution G A intron_variant MELA-AU 1 67331750 67331750 single base substitution G A upstream_gene_variant MELA-AU 1 67331909 67331909 single base substitution G A downstream_gene_variant MELA-AU 1 67331909 67331909 single base substitution G A intron_variant MELA-AU 1 67331909 67331909 single base substitution G A upstream_gene_variant MELA-AU 1 67332529 67332529 single base substitution A G downstream_gene_variant MELA-AU 1 67332529 67332529 single base substitution A G intron_variant MELA-AU 1 67332529 67332529 single base substitution A G upstream_gene_variant MELA-AU 1 67333169 67333169 single base substitution C A downstream_gene_variant MELA-AU 1 67333169 67333169 single base substitution C A intron_variant MELA-AU 1 67333194 67333194 single base substitution C T downstream_gene_variant MELA-AU 1 67333194 67333194 single base substitution C T intron_variant MELA-AU 1 67333221 67333221 single base substitution C T downstream_gene_variant MELA-AU 1 67333221 67333221 single base substitution C T intron_variant MELA-AU 1 67333326 67333326 single base substitution G A downstream_gene_variant MELA-AU 1 67333326 67333326 single base substitution G A intron_variant MELA-AU 1 67333335 67333335 single base substitution G A downstream_gene_variant MELA-AU 1 67333335 67333335 single base substitution G A intron_variant MELA-AU 1 67333662 67333662 single base substitution C T downstream_gene_variant MELA-AU 1 67333662 67333662 single base substitution C T intron_variant MELA-AU 1 67333683 67333683 single base substitution C T downstream_gene_variant MELA-AU 1 67333683 67333683 single base substitution C T intron_variant MELA-AU 1 67333838 67333838 single base substitution G A downstream_gene_variant MELA-AU 1 67333838 67333838 single base substitution G A intron_variant MELA-AU 1 67334310 67334310 single base substitution G A downstream_gene_variant MELA-AU 1 67334310 67334310 single base substitution G A intron_variant MELA-AU 1 67334585 67334585 single base substitution C T downstream_gene_variant MELA-AU 1 67334585 67334585 single base substitution C T intron_variant MELA-AU 1 67334704 67334704 single base substitution C T downstream_gene_variant MELA-AU 1 67334704 67334704 single base substitution C T intron_variant MELA-AU 1 67334938 67334938 single base substitution G A downstream_gene_variant MELA-AU 1 67334938 67334938 single base substitution G A intron_variant MELA-AU 1 67335485 67335485 single base substitution C T downstream_gene_variant MELA-AU 1 67335485 67335485 single base substitution C T intron_variant MELA-AU 1 67336104 67336104 single base substitution G A downstream_gene_variant MELA-AU 1 67336104 67336104 single base substitution G A intron_variant MELA-AU 1 67336130 67336130 single base substitution A T downstream_gene_variant MELA-AU 1 67336130 67336130 single base substitution A T intron_variant MELA-AU 1 67336183 67336183 single base substitution C T downstream_gene_variant MELA-AU 1 67336183 67336183 single base substitution C T intron_variant MELA-AU 1 67336351 67336351 single base substitution G A downstream_gene_variant MELA-AU 1 67336351 67336351 single base substitution G A intron_variant MELA-AU 1 67336550 67336550 single base substitution A G 3_prime_UTR_variant MELA-AU 1 67336550 67336550 single base substitution A G intron_variant MELA-AU 1 67336876 67336876 single base substitution A G 3_prime_UTR_variant MELA-AU 1 67336876 67336876 single base substitution A G intron_variant MELA-AU 1 67337451 67337451 single base substitution G A intron_variant MELA-AU 1 67337451 67337451 single base substitution G A upstream_gene_variant MELA-AU 1 67337488 67337488 single base substitution C T intron_variant MELA-AU 1 67337488 67337488 single base substitution C T upstream_gene_variant MELA-AU 1 67337728 67337728 single base substitution G A intron_variant MELA-AU 1 67337728 67337728 single base substitution G A upstream_gene_variant MELA-AU 1 67338035 67338035 single base substitution C T intron_variant MELA-AU 1 67338035 67338035 single base substitution C T upstream_gene_variant MELA-AU 1 67338132 67338132 single base substitution G A intron_variant MELA-AU 1 67338132 67338132 single base substitution G A upstream_gene_variant MELA-AU 1 67338168 67338168 single base substitution C T intron_variant MELA-AU 1 67338168 67338168 single base substitution C T upstream_gene_variant MELA-AU 1 67338182 67338182 single base substitution G A intron_variant MELA-AU 1 67338182 67338182 single base substitution G A upstream_gene_variant MELA-AU 1 67338260 67338260 single base substitution C T intron_variant MELA-AU 1 67338260 67338260 single base substitution C T upstream_gene_variant MELA-AU 1 67338666 67338666 single base substitution G A intron_variant MELA-AU 1 67338666 67338666 single base substitution G A upstream_gene_variant MELA-AU 1 67338830 67338830 single base substitution G A intron_variant MELA-AU 1 67338830 67338830 single base substitution G A upstream_gene_variant MELA-AU 1 67338831 67338831 single base substitution G A intron_variant MELA-AU 1 67338831 67338831 single base substitution G A upstream_gene_variant MELA-AU 1 67338841 67338841 single base substitution C T intron_variant MELA-AU 1 67338841 67338841 single base substitution C T upstream_gene_variant MELA-AU 1 67338859 67338859 single base substitution C T intron_variant MELA-AU 1 67338859 67338859 single base substitution C T upstream_gene_variant MELA-AU 1 67339034 67339034 single base substitution T C intron_variant MELA-AU 1 67339034 67339034 single base substitution T C upstream_gene_variant MELA-AU 1 67339038 67339038 single base substitution C T intron_variant MELA-AU 1 67339038 67339038 single base substitution C T upstream_gene_variant MELA-AU 1 67339189 67339189 single base substitution C T intron_variant MELA-AU 1 67339189 67339189 single base substitution C T upstream_gene_variant MELA-AU 1 67339202 67339202 single base substitution G A intron_variant MELA-AU 1 67339202 67339202 single base substitution G A upstream_gene_variant MELA-AU 1 67339441 67339441 single base substitution C T intron_variant MELA-AU 1 67339441 67339441 single base substitution C T upstream_gene_variant MELA-AU 1 67339563 67339563 single base substitution C T intron_variant MELA-AU 1 67339563 67339563 single base substitution C T upstream_gene_variant MELA-AU 1 67339603 67339603 single base substitution C G intron_variant MELA-AU 1 67339603 67339603 single base substitution C G upstream_gene_variant MELA-AU 1 67339651 67339651 single base substitution T A intron_variant MELA-AU 1 67339651 67339651 single base substitution T A upstream_gene_variant MELA-AU 1 67339679 67339679 single base substitution A G intron_variant MELA-AU 1 67339679 67339679 single base substitution A G upstream_gene_variant MELA-AU 1 67339758 67339758 single base substitution G A intron_variant MELA-AU 1 67339758 67339758 single base substitution G A upstream_gene_variant MELA-AU 1 67339827 67339828 multiple base substitution (>=2bp and <=200bp) AT CA intron_variant MELA-AU 1 67339827 67339828 multiple base substitution (>=2bp and <=200bp) AT CA upstream_gene_variant MELA-AU 1 67339865 67339865 single base substitution G A intron_variant MELA-AU 1 67339865 67339865 single base substitution G A upstream_gene_variant MELA-AU 1 67340106 67340106 single base substitution C T intron_variant MELA-AU 1 67340106 67340106 single base substitution C T upstream_gene_variant MELA-AU 1 67340347 67340347 single base substitution C A intron_variant MELA-AU 1 67340347 67340347 single base substitution C A upstream_gene_variant MELA-AU 1 67340434 67340434 single base substitution A T intron_variant MELA-AU 1 67340434 67340434 single base substitution A T upstream_gene_variant MELA-AU 1 67340619 67340619 single base substitution A T intron_variant MELA-AU 1 67340619 67340619 single base substitution A T missense_variant D215E 645T>A MELA-AU 1 67340619 67340619 single base substitution A T splice_region_variant MELA-AU 1 67340619 67340619 single base substitution A T upstream_gene_variant MELA-AU 1 67340740 67340740 single base substitution G A intron_variant MELA-AU 1 67340740 67340740 single base substitution G A upstream_gene_variant MELA-AU 1 67340796 67340796 single base substitution C T intron_variant MELA-AU 1 67340796 67340796 single base substitution C T upstream_gene_variant MELA-AU 1 67340814 67340814 single base substitution C T intron_variant MELA-AU 1 67340814 67340814 single base substitution C T upstream_gene_variant MELA-AU 1 67341192 67341192 single base substitution T A intron_variant MELA-AU 1 67341192 67341192 single base substitution T A upstream_gene_variant MELA-AU 1 67341308 67341308 single base substitution G A intron_variant MELA-AU 1 67341308 67341308 single base substitution G A upstream_gene_variant MELA-AU 1 67341643 67341643 single base substitution G A intron_variant MELA-AU 1 67341643 67341643 single base substitution G A upstream_gene_variant MELA-AU 1 67341965 67341965 single base substitution G A intron_variant MELA-AU 1 67341965 67341965 single base substitution G A upstream_gene_variant MELA-AU 1 67342000 67342000 single base substitution C T intron_variant MELA-AU 1 67342000 67342000 single base substitution C T upstream_gene_variant MELA-AU 1 67342018 67342018 single base substitution C T intron_variant MELA-AU 1 67342018 67342018 single base substitution C T upstream_gene_variant MELA-AU 1 67342112 67342112 single base substitution G A intron_variant MELA-AU 1 67342112 67342112 single base substitution G A upstream_gene_variant MELA-AU 1 67342601 67342601 single base substitution G A intron_variant MELA-AU 1 67342601 67342601 single base substitution G A upstream_gene_variant MELA-AU 1 67342985 67342985 single base substitution G A intron_variant MELA-AU 1 67342985 67342985 single base substitution G A upstream_gene_variant MELA-AU 1 67343229 67343229 single base substitution C T intron_variant MELA-AU 1 67343229 67343229 single base substitution C T upstream_gene_variant MELA-AU 1 67343335 67343335 single base substitution T C intron_variant MELA-AU 1 67343335 67343335 single base substitution T C upstream_gene_variant MELA-AU 1 67343411 67343411 single base substitution C A intron_variant MELA-AU 1 67343411 67343411 single base substitution C A upstream_gene_variant MELA-AU 1 67343784 67343784 single base substitution G A intron_variant MELA-AU 1 67343784 67343784 single base substitution G A upstream_gene_variant MELA-AU 1 67343847 67343847 single base substitution C T intron_variant MELA-AU 1 67343847 67343847 single base substitution C T upstream_gene_variant MELA-AU 1 67344586 67344586 single base substitution A T intron_variant MELA-AU 1 67344586 67344586 single base substitution A T upstream_gene_variant MELA-AU 1 67344671 67344671 single base substitution G A intron_variant MELA-AU 1 67344671 67344671 single base substitution G A upstream_gene_variant MELA-AU 1 67345428 67345428 single base substitution T C intron_variant MELA-AU 1 67345428 67345428 single base substitution T C upstream_gene_variant MELA-AU 1 67345577 67345577 single base substitution C T intron_variant MELA-AU 1 67346342 67346342 single base substitution G A intron_variant MELA-AU 1 67346363 67346363 single base substitution G A intron_variant MELA-AU 1 67346436 67346436 single base substitution G A intron_variant MELA-AU 1 67346548 67346548 single base substitution G A intron_variant MELA-AU 1 67346560 67346560 single base substitution G A intron_variant MELA-AU 1 67346657 67346657 single base substitution G A intron_variant MELA-AU 1 67346658 67346658 single base substitution G A intron_variant MELA-AU 1 67346881 67346881 single base substitution G A intron_variant MELA-AU 1 67347056 67347056 single base substitution G A intron_variant MELA-AU 1 67347070 67347070 single base substitution G A intron_variant MELA-AU 1 67347087 67347087 single base substitution G A intron_variant MELA-AU 1 67347248 67347248 single base substitution C T intron_variant MELA-AU 1 67347256 67347256 single base substitution T C intron_variant MELA-AU 1 67347454 67347454 single base substitution A C intron_variant MELA-AU 1 67347474 67347474 single base substitution G A intron_variant MELA-AU 1 67347484 67347484 single base substitution G A intron_variant MELA-AU 1 67347892 67347892 single base substitution G A intron_variant MELA-AU 1 67347991 67347991 single base substitution A C intron_variant MELA-AU 1 67348209 67348209 single base substitution T C intron_variant MELA-AU 1 67348539 67348539 single base substitution G A intron_variant MELA-AU 1 67349020 67349020 single base substitution G A intron_variant MELA-AU 1 67349118 67349118 single base substitution A T intron_variant MELA-AU 1 67349142 67349142 single base substitution G A intron_variant MELA-AU 1 67349347 67349347 single base substitution G A intron_variant MELA-AU 1 67349527 67349527 single base substitution G A intron_variant MELA-AU 1 67349530 67349530 single base substitution A T intron_variant MELA-AU 1 67350027 67350027 single base substitution G A intron_variant MELA-AU 1 67350245 67350245 single base substitution G A intron_variant MELA-AU 1 67350321 67350321 single base substitution G A intron_variant MELA-AU 1 67350560 67350560 single base substitution C T intron_variant MELA-AU 1 67350727 67350727 single base substitution C T intron_variant MELA-AU 1 67350778 67350778 single base substitution C T intron_variant MELA-AU 1 67351194 67351194 single base substitution C T intron_variant MELA-AU 1 67351472 67351472 single base substitution C T intron_variant MELA-AU 1 67351820 67351820 single base substitution G A intron_variant MELA-AU 1 67351886 67351886 single base substitution T A intron_variant MELA-AU 1 67352662 67352662 single base substitution G A intron_variant MELA-AU 1 67352664 67352664 single base substitution G A intron_variant MELA-AU 1 67352722 67352722 single base substitution C T intron_variant MELA-AU 1 67353162 67353162 single base substitution G A intron_variant MELA-AU 1 67353228 67353228 single base substitution G A intron_variant MELA-AU 1 67353917 67353917 single base substitution G A intron_variant MELA-AU 1 67354233 67354233 single base substitution A C downstream_gene_variant MELA-AU 1 67354233 67354233 single base substitution A C intron_variant MELA-AU 1 67354239 67354239 single base substitution G A downstream_gene_variant MELA-AU 1 67354239 67354239 single base substitution G A intron_variant MELA-AU 1 67354308 67354309 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 1 67354308 67354309 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 67354351 67354351 single base substitution G A downstream_gene_variant MELA-AU 1 67354351 67354351 single base substitution G A intron_variant MELA-AU 1 67354576 67354576 single base substitution C T downstream_gene_variant MELA-AU 1 67354576 67354576 single base substitution C T intron_variant MELA-AU 1 67354653 67354653 single base substitution G A downstream_gene_variant MELA-AU 1 67354653 67354653 single base substitution G A intron_variant MELA-AU 1 67354677 67354677 single base substitution G A downstream_gene_variant MELA-AU 1 67354677 67354677 single base substitution G A intron_variant MELA-AU 1 67354847 67354847 single base substitution T A downstream_gene_variant MELA-AU 1 67354847 67354847 single base substitution T A intron_variant MELA-AU 1 67355038 67355038 single base substitution G A downstream_gene_variant MELA-AU 1 67355038 67355038 single base substitution G A intron_variant MELA-AU 1 67355186 67355186 single base substitution T A downstream_gene_variant MELA-AU 1 67355186 67355186 single base substitution T A intron_variant MELA-AU 1 67355352 67355352 single base substitution G A downstream_gene_variant MELA-AU 1 67355352 67355352 single base substitution G A intron_variant MELA-AU 1 67355513 67355513 single base substitution C T downstream_gene_variant MELA-AU 1 67355513 67355513 single base substitution C T intron_variant MELA-AU 1 67355918 67355918 single base substitution G A 3_prime_UTR_variant MELA-AU 1 67355918 67355918 single base substitution G A downstream_gene_variant MELA-AU 1 67355918 67355918 single base substitution G A intron_variant MELA-AU 1 67356064 67356064 single base substitution G T 3_prime_UTR_variant MELA-AU 1 67356064 67356064 single base substitution G T downstream_gene_variant MELA-AU 1 67356064 67356064 single base substitution G T intron_variant MELA-AU 1 67356421 67356421 single base substitution G A 3_prime_UTR_variant MELA-AU 1 67356421 67356421 single base substitution G A downstream_gene_variant MELA-AU 1 67356421 67356421 single base substitution G A intron_variant MELA-AU 1 67356503 67356503 single base substitution G A 3_prime_UTR_variant MELA-AU 1 67356503 67356503 single base substitution G A downstream_gene_variant MELA-AU 1 67356503 67356503 single base substitution G A intron_variant MELA-AU 1 67356520 67356520 single base substitution G A 3_prime_UTR_variant MELA-AU 1 67356520 67356520 single base substitution G A downstream_gene_variant MELA-AU 1 67356520 67356520 single base substitution G A intron_variant MELA-AU 1 67356537 67356537 single base substitution A G 3_prime_UTR_variant MELA-AU 1 67356537 67356537 single base substitution A G downstream_gene_variant MELA-AU 1 67356537 67356537 single base substitution A G intron_variant MELA-AU 1 67356549 67356549 single base substitution G A 3_prime_UTR_variant MELA-AU 1 67356549 67356549 single base substitution G A downstream_gene_variant MELA-AU 1 67356549 67356549 single base substitution G A intron_variant MELA-AU 1 67356859 67356859 single base substitution C T 3_prime_UTR_variant MELA-AU 1 67356859 67356859 single base substitution C T 5_prime_UTR_variant MELA-AU 1 67356859 67356859 single base substitution C T downstream_gene_variant MELA-AU 1 67356859 67356859 single base substitution C T exon_variant MELA-AU 1 67356859 67356859 single base substitution C T synonymous_variant R207R 621G>A MELA-AU 1 67357163 67357163 single base substitution G A downstream_gene_variant MELA-AU 1 67357163 67357163 single base substitution G A intron_variant MELA-AU 1 67357208 67357208 single base substitution G A downstream_gene_variant MELA-AU 1 67357208 67357208 single base substitution G A intron_variant MELA-AU 1 67357798 67357798 single base substitution C T downstream_gene_variant MELA-AU 1 67357798 67357798 single base substitution C T intron_variant MELA-AU 1 67358043 67358043 single base substitution G A downstream_gene_variant MELA-AU 1 67358043 67358043 single base substitution G A intron_variant MELA-AU 1 67358324 67358324 single base substitution C T downstream_gene_variant MELA-AU 1 67358324 67358324 single base substitution C T intron_variant MELA-AU 1 67358663 67358663 single base substitution A T downstream_gene_variant MELA-AU 1 67358663 67358663 single base substitution A T intron_variant MELA-AU 1 67358666 67358666 single base substitution A G downstream_gene_variant MELA-AU 1 67358666 67358666 single base substitution A G intron_variant MELA-AU 1 67359170 67359170 single base substitution G A intron_variant MELA-AU 1 67359184 67359184 single base substitution A T intron_variant MELA-AU 1 67359235 67359235 single base substitution G A intron_variant MELA-AU 1 67359314 67359314 single base substitution A T intron_variant MELA-AU 1 67359339 67359339 single base substitution G A intron_variant MELA-AU 1 67360032 67360032 single base substitution C T intron_variant MELA-AU 1 67360152 67360152 single base substitution G A intron_variant MELA-AU 1 67360376 67360376 single base substitution G A intron_variant MELA-AU 1 67360529 67360529 single base substitution C T intron_variant MELA-AU 1 67361735 67361735 single base substitution G A intron_variant MELA-AU 1 67361779 67361779 single base substitution T A intron_variant MELA-AU 1 67361812 67361812 single base substitution C T intron_variant MELA-AU 1 67362308 67362308 single base substitution G A intron_variant MELA-AU 1 67362331 67362331 single base substitution A T intron_variant MELA-AU 1 67362354 67362354 single base substitution C T intron_variant MELA-AU 1 67362617 67362617 single base substitution G A intron_variant MELA-AU 1 67363619 67363619 single base substitution C T intron_variant MELA-AU 1 67364005 67364005 single base substitution G A intron_variant MELA-AU 1 67364192 67364192 single base substitution C T intron_variant MELA-AU 1 67365134 67365134 single base substitution G T intron_variant MELA-AU 1 67365158 67365158 single base substitution G A intron_variant MELA-AU 1 67366432 67366432 single base substitution C T downstream_gene_variant MELA-AU 1 67366432 67366432 single base substitution C T intron_variant MELA-AU 1 67367066 67367067 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 1 67367066 67367067 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 67367109 67367109 single base substitution G A downstream_gene_variant MELA-AU 1 67367109 67367109 single base substitution G A intron_variant MELA-AU 1 67367223 67367223 single base substitution G A downstream_gene_variant MELA-AU 1 67367223 67367223 single base substitution G A intron_variant MELA-AU 1 67367390 67367390 single base substitution G A downstream_gene_variant MELA-AU 1 67367390 67367390 single base substitution G A intron_variant MELA-AU 1 67367452 67367452 single base substitution G A downstream_gene_variant MELA-AU 1 67367452 67367452 single base substitution G A intron_variant MELA-AU 1 67367459 67367459 single base substitution G A downstream_gene_variant MELA-AU 1 67367459 67367459 single base substitution G A intron_variant MELA-AU 1 67367483 67367483 single base substitution C T downstream_gene_variant MELA-AU 1 67367483 67367483 single base substitution C T intron_variant MELA-AU 1 67367850 67367850 single base substitution T C downstream_gene_variant MELA-AU 1 67367850 67367850 single base substitution T C intron_variant MELA-AU 1 67367992 67367992 single base substitution G A downstream_gene_variant MELA-AU 1 67367992 67367992 single base substitution G A intron_variant MELA-AU 1 67368007 67368007 single base substitution G A downstream_gene_variant MELA-AU 1 67368007 67368007 single base substitution G A intron_variant MELA-AU 1 67368081 67368081 single base substitution C T downstream_gene_variant MELA-AU 1 67368081 67368081 single base substitution C T intron_variant MELA-AU 1 67368343 67368343 single base substitution G A downstream_gene_variant MELA-AU 1 67368343 67368343 single base substitution G A intron_variant MELA-AU 1 67368371 67368371 single base substitution G T downstream_gene_variant MELA-AU 1 67368371 67368371 single base substitution G T intron_variant MELA-AU 1 67368418 67368419 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 1 67368418 67368419 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 67368419 67368419 single base substitution G A downstream_gene_variant MELA-AU 1 67368419 67368419 single base substitution G A intron_variant MELA-AU 1 67368433 67368433 single base substitution C T downstream_gene_variant MELA-AU 1 67368433 67368433 single base substitution C T intron_variant MELA-AU 1 67368541 67368541 single base substitution G A downstream_gene_variant MELA-AU 1 67368541 67368541 single base substitution G A intron_variant MELA-AU 1 67369016 67369016 single base substitution G A downstream_gene_variant MELA-AU 1 67369016 67369016 single base substitution G A intron_variant MELA-AU 1 67369838 67369838 single base substitution G A downstream_gene_variant MELA-AU 1 67369838 67369838 single base substitution G A intron_variant MELA-AU 1 67370057 67370057 single base substitution G A downstream_gene_variant MELA-AU 1 67370057 67370057 single base substitution G A intron_variant MELA-AU 1 67370297 67370297 single base substitution C T downstream_gene_variant MELA-AU 1 67370297 67370297 single base substitution C T intron_variant MELA-AU 1 67370329 67370329 single base substitution A G downstream_gene_variant MELA-AU 1 67370329 67370329 single base substitution A G intron_variant MELA-AU 1 67370378 67370378 single base substitution G A downstream_gene_variant MELA-AU 1 67370378 67370378 single base substitution G A intron_variant MELA-AU 1 67371637 67371637 single base substitution C T intron_variant MELA-AU 1 67371637 67371637 single base substitution C T upstream_gene_variant MELA-AU 1 67371950 67371950 single base substitution A T intron_variant MELA-AU 1 67371950 67371950 single base substitution A T upstream_gene_variant MELA-AU 1 67372332 67372332 single base substitution G A intron_variant MELA-AU 1 67372332 67372332 single base substitution G A upstream_gene_variant MELA-AU 1 67372424 67372424 single base substitution C T intron_variant MELA-AU 1 67372424 67372424 single base substitution C T upstream_gene_variant MELA-AU 1 67372985 67372985 single base substitution G A intron_variant MELA-AU 1 67372985 67372985 single base substitution G A upstream_gene_variant MELA-AU 1 67373518 67373518 single base substitution T A intron_variant MELA-AU 1 67373518 67373518 single base substitution T A upstream_gene_variant MELA-AU 1 67373792 67373792 single base substitution G A intron_variant MELA-AU 1 67373792 67373792 single base substitution G A upstream_gene_variant MELA-AU 1 67374395 67374395 single base substitution G A intron_variant MELA-AU 1 67374395 67374395 single base substitution G A upstream_gene_variant MELA-AU 1 67375323 67375323 single base substitution G A intron_variant MELA-AU 1 67375323 67375323 single base substitution G A upstream_gene_variant MELA-AU 1 67375543 67375543 single base substitution T C intron_variant MELA-AU 1 67375543 67375543 single base substitution T C upstream_gene_variant MELA-AU 1 67376225 67376225 single base substitution G A intron_variant MELA-AU 1 67376225 67376225 single base substitution G A upstream_gene_variant MELA-AU 1 67376473 67376473 single base substitution G A intron_variant MELA-AU 1 67376473 67376473 single base substitution G A upstream_gene_variant MELA-AU 1 67376918 67376918 single base substitution A G intron_variant MELA-AU 1 67376918 67376918 single base substitution A G upstream_gene_variant MELA-AU 1 67377035 67377035 single base substitution C T intron_variant MELA-AU 1 67377035 67377035 single base substitution C T upstream_gene_variant MELA-AU 1 67377539 67377539 single base substitution C T intron_variant MELA-AU 1 67377539 67377539 single base substitution C T upstream_gene_variant MELA-AU 1 67378045 67378045 single base substitution G A intron_variant MELA-AU 1 67378079 67378079 single base substitution G A intron_variant MELA-AU 1 67378468 67378468 single base substitution G A intron_variant MELA-AU 1 67378591 67378591 single base substitution C T intron_variant MELA-AU 1 67378765 67378765 single base substitution G A intron_variant MELA-AU 1 67378767 67378767 single base substitution G A intron_variant MELA-AU 1 67378959 67378959 single base substitution G A intron_variant MELA-AU 1 67379181 67379181 single base substitution A G intron_variant MELA-AU 1 67379446 67379446 single base substitution A C intron_variant MELA-AU 1 67379456 67379456 single base substitution G A intron_variant MELA-AU 1 67380414 67380414 single base substitution T A intron_variant MELA-AU 1 67380563 67380563 single base substitution G A intron_variant MELA-AU 1 67380717 67380717 single base substitution C T intron_variant MELA-AU 1 67382338 67382338 single base substitution G A downstream_gene_variant MELA-AU 1 67382338 67382338 single base substitution G A intron_variant MELA-AU 1 67383354 67383354 single base substitution G A downstream_gene_variant MELA-AU 1 67383354 67383354 single base substitution G A intron_variant MELA-AU 1 67383690 67383691 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 1 67383690 67383691 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 67383718 67383718 single base substitution G A downstream_gene_variant MELA-AU 1 67383718 67383718 single base substitution G A intron_variant MELA-AU 1 67383829 67383829 single base substitution A C downstream_gene_variant MELA-AU 1 67383829 67383829 single base substitution A C intron_variant MELA-AU 1 67384090 67384090 single base substitution C A downstream_gene_variant MELA-AU 1 67384090 67384090 single base substitution C A intron_variant MELA-AU 1 67384203 67384203 single base substitution G A downstream_gene_variant MELA-AU 1 67384203 67384203 single base substitution G A intron_variant MELA-AU 1 67384224 67384224 single base substitution G A downstream_gene_variant MELA-AU 1 67384224 67384224 single base substitution G A intron_variant MELA-AU 1 67385549 67385549 single base substitution G C downstream_gene_variant MELA-AU 1 67385549 67385549 single base substitution G C intron_variant MELA-AU 1 67385679 67385679 single base substitution G A downstream_gene_variant MELA-AU 1 67385679 67385679 single base substitution G A intron_variant MELA-AU 1 67385700 67385700 single base substitution G A downstream_gene_variant MELA-AU 1 67385700 67385700 single base substitution G A intron_variant MELA-AU 1 67385722 67385722 single base substitution A G downstream_gene_variant MELA-AU 1 67385722 67385722 single base substitution A G intron_variant MELA-AU 1 67386798 67386798 single base substitution G A downstream_gene_variant MELA-AU 1 67386798 67386798 single base substitution G A intron_variant MELA-AU 1 67386872 67386872 single base substitution G A downstream_gene_variant MELA-AU 1 67386872 67386872 single base substitution G A intron_variant MELA-AU 1 67387378 67387378 single base substitution G A intron_variant MELA-AU 1 67387925 67387925 single base substitution G A intron_variant MELA-AU 1 67387948 67387948 single base substitution G A intron_variant MELA-AU 1 67388271 67388271 single base substitution G A intron_variant MELA-AU 1 67388387 67388387 single base substitution G A intron_variant MELA-AU 1 67388511 67388511 single base substitution G A intron_variant MELA-AU 1 67388612 67388612 single base substitution G A intron_variant MELA-AU 1 67389243 67389243 single base substitution A G intron_variant MELA-AU 1 67390495 67390495 single base substitution G A 5_prime_UTR_variant MELA-AU 1 67390495 67390495 single base substitution G A exon_variant MELA-AU 1 67390495 67390495 single base substitution G A missense_variant S7F 20C>T MELA-AU 1 67390495 67390495 single base substitution G A upstream_gene_variant MELA-AU 1 67390983 67390983 single base substitution C T upstream_gene_variant MELA-AU 1 67392670 67392670 single base substitution A T upstream_gene_variant MELA-AU 1 67393963 67393963 single base substitution C T upstream_gene_variant MELA-AU 1 67394217 67394217 single base substitution C T upstream_gene_variant MELA-AU 1 67395416 67395416 single base substitution C T upstream_gene_variant ORCA-IN 1 67278837 67278837 single base substitution T C 3_prime_UTR_variant ORCA-IN 1 67278837 67278837 single base substitution T C downstream_gene_variant ORCA-IN 1 67285057 67285057 single base substitution C G intron_variant ORCA-IN 1 67295152 67295152 single base substitution A G intron_variant ORCA-IN 1 67306954 67306954 single base substitution C T intron_variant ORCA-IN 1 67324756 67324756 single base substitution G A downstream_gene_variant ORCA-IN 1 67324756 67324756 single base substitution G A intron_variant ORCA-IN 1 67333132 67333132 single base substitution C G downstream_gene_variant ORCA-IN 1 67333132 67333132 single base substitution C G intron_variant ORCA-IN 1 67361412 67361412 single base substitution A G intron_variant ORCA-IN 1 67361808 67361808 single base substitution G C intron_variant OV-AU 1 67277696 67277696 single base substitution T A downstream_gene_variant OV-AU 1 67281833 67281833 single base substitution A G intron_variant OV-AU 1 67286658 67286658 single base substitution A T intron_variant OV-AU 1 67287846 67287846 single base substitution C G intron_variant OV-AU 1 67292283 67292283 single base substitution G C intron_variant OV-AU 1 67298169 67298169 single base substitution T C intron_variant OV-AU 1 67300170 67300170 single base substitution T C downstream_gene_variant OV-AU 1 67300170 67300170 single base substitution T C intron_variant OV-AU 1 67302002 67302002 single base substitution A G downstream_gene_variant OV-AU 1 67302002 67302002 single base substitution A G intron_variant OV-AU 1 67302114 67302114 single base substitution C A downstream_gene_variant OV-AU 1 67302114 67302114 single base substitution C A intron_variant OV-AU 1 67303513 67303513 single base substitution G C intron_variant OV-AU 1 67323094 67323094 single base substitution A G downstream_gene_variant OV-AU 1 67323094 67323094 single base substitution A G intron_variant OV-AU 1 67326872 67326872 single base substitution G A downstream_gene_variant OV-AU 1 67326872 67326872 single base substitution G A intron_variant OV-AU 1 67330680 67330680 single base substitution T C intron_variant OV-AU 1 67330680 67330680 single base substitution T C upstream_gene_variant OV-AU 1 67331345 67331345 single base substitution G C intron_variant OV-AU 1 67331345 67331345 single base substitution G C upstream_gene_variant OV-AU 1 67335279 67335279 single base substitution C A downstream_gene_variant OV-AU 1 67335279 67335279 single base substitution C A intron_variant OV-AU 1 67338348 67338348 single base substitution C T intron_variant OV-AU 1 67338348 67338348 single base substitution C T upstream_gene_variant OV-AU 1 67338881 67338881 single base substitution C T intron_variant OV-AU 1 67338881 67338881 single base substitution C T upstream_gene_variant OV-AU 1 67341683 67341683 single base substitution A G intron_variant OV-AU 1 67341683 67341683 single base substitution A G upstream_gene_variant OV-AU 1 67348894 67348894 single base substitution T C intron_variant OV-AU 1 67351120 67351120 single base substitution G C intron_variant OV-AU 1 67358667 67358667 single base substitution A G downstream_gene_variant OV-AU 1 67358667 67358667 single base substitution A G intron_variant OV-AU 1 67367993 67367993 single base substitution T A downstream_gene_variant OV-AU 1 67367993 67367993 single base substitution T A intron_variant OV-AU 1 67369344 67369344 single base substitution T G downstream_gene_variant OV-AU 1 67369344 67369344 single base substitution T G intron_variant OV-AU 1 67369774 67369774 single base substitution G A downstream_gene_variant OV-AU 1 67369774 67369774 single base substitution G A intron_variant OV-AU 1 67375175 67375175 single base substitution T G intron_variant OV-AU 1 67375175 67375175 single base substitution T G upstream_gene_variant OV-AU 1 67379882 67379882 single base substitution T C intron_variant OV-AU 1 67380044 67380044 single base substitution C T intron_variant OV-AU 1 67386628 67386628 single base substitution C T downstream_gene_variant OV-AU 1 67386628 67386628 single base substitution C T intron_variant OV-AU 1 67387001 67387001 single base substitution C T exon_variant OV-AU 1 67387001 67387001 single base substitution C T intron_variant OV-US 1 67359088 67359088 single base substitution G T 3_prime_UTR_variant OV-US 1 67359088 67359088 single base substitution G T 5_prime_UTR_variant OV-US 1 67359088 67359088 single base substitution G T exon_variant OV-US 1 67359088 67359088 single base substitution G T intron_variant OV-US 1 67359088 67359088 single base substitution G T missense_variant D118E 354C>A PACA-AU 1 67273999 67273999 single base substitution T C downstream_gene_variant PACA-AU 1 67274975 67274975 insertion of <=200bp - CA downstream_gene_variant PACA-AU 1 67276063 67276063 deletion of <=200bp A - downstream_gene_variant PACA-AU 1 67280834 67280834 single base substitution C G intron_variant PACA-AU 1 67281982 67281982 single base substitution C T intron_variant PACA-AU 1 67285540 67285540 single base substitution G A intron_variant PACA-AU 1 67288801 67288801 single base substitution C A intron_variant PACA-AU 1 67291648 67291648 single base substitution C G intron_variant PACA-AU 1 67292674 67292674 single base substitution C A 3_prime_UTR_variant PACA-AU 1 67292674 67292674 single base substitution C A missense_variant C436F 1307G>T PACA-AU 1 67292674 67292674 single base substitution C A missense_variant C456F 1367G>T PACA-AU 1 67292674 67292674 single base substitution C A missense_variant C723F 2168G>T PACA-AU 1 67295052 67295052 single base substitution A G intron_variant PACA-AU 1 67298585 67298585 single base substitution A C downstream_gene_variant PACA-AU 1 67298585 67298585 single base substitution A C intron_variant PACA-AU 1 67298898 67298898 single base substitution T A downstream_gene_variant PACA-AU 1 67298898 67298898 single base substitution T A intron_variant PACA-AU 1 67300238 67300238 single base substitution A T downstream_gene_variant PACA-AU 1 67300238 67300238 single base substitution A T intron_variant PACA-AU 1 67313068 67313068 single base substitution C T downstream_gene_variant PACA-AU 1 67313068 67313068 single base substitution C T intron_variant PACA-AU 1 67317751 67317751 single base substitution G A intron_variant PACA-AU 1 67327386 67327386 single base substitution C T downstream_gene_variant PACA-AU 1 67327386 67327386 single base substitution C T intron_variant PACA-AU 1 67327977 67327977 single base substitution A G 3_prime_UTR_variant PACA-AU 1 67327977 67327977 single base substitution A G exon_variant PACA-AU 1 67327977 67327977 single base substitution A G missense_variant S317P 949T>C PACA-AU 1 67327977 67327977 single base substitution A G missense_variant S4P 10T>C PACA-AU 1 67327977 67327977 single base substitution A G missense_variant S50P 148T>C PACA-AU 1 67327977 67327977 single base substitution A G missense_variant S63P 187T>C PACA-AU 1 67327977 67327977 single base substitution A G missense_variant S83P 247T>C PACA-AU 1 67329228 67329228 single base substitution G C intron_variant PACA-AU 1 67329228 67329228 single base substitution G C upstream_gene_variant PACA-AU 1 67332878 67332878 single base substitution T C downstream_gene_variant PACA-AU 1 67332878 67332878 single base substitution T C intron_variant PACA-AU 1 67332878 67332878 single base substitution T C upstream_gene_variant PACA-AU 1 67334294 67334294 single base substitution G A downstream_gene_variant PACA-AU 1 67334294 67334294 single base substitution G A intron_variant PACA-AU 1 67334800 67334800 insertion of <=200bp - AT downstream_gene_variant PACA-AU 1 67334800 67334800 insertion of <=200bp - AT intron_variant PACA-AU 1 67337228 67337228 single base substitution G C intron_variant PACA-AU 1 67337228 67337228 single base substitution G C upstream_gene_variant PACA-AU 1 67337735 67337735 single base substitution T A intron_variant PACA-AU 1 67337735 67337735 single base substitution T A upstream_gene_variant PACA-AU 1 67337901 67337901 insertion of <=200bp - TTTAT intron_variant PACA-AU 1 67337901 67337901 insertion of <=200bp - TTTAT upstream_gene_variant PACA-AU 1 67338039 67338039 single base substitution G T intron_variant PACA-AU 1 67338039 67338039 single base substitution G T upstream_gene_variant PACA-AU 1 67338639 67338639 single base substitution A G intron_variant PACA-AU 1 67338639 67338639 single base substitution A G upstream_gene_variant PACA-AU 1 67345097 67345097 single base substitution T G intron_variant PACA-AU 1 67345097 67345097 single base substitution T G upstream_gene_variant PACA-AU 1 67347629 67347629 single base substitution C T intron_variant PACA-AU 1 67357096 67357096 single base substitution A T downstream_gene_variant PACA-AU 1 67357096 67357096 single base substitution A T intron_variant PACA-AU 1 67357717 67357717 single base substitution C T downstream_gene_variant PACA-AU 1 67357717 67357717 single base substitution C T intron_variant PACA-AU 1 67358728 67358728 single base substitution A G downstream_gene_variant PACA-AU 1 67358728 67358728 single base substitution A G intron_variant PACA-AU 1 67358776 67358776 single base substitution G A downstream_gene_variant PACA-AU 1 67358776 67358776 single base substitution G A intron_variant PACA-AU 1 67361114 67361114 single base substitution G A intron_variant PACA-AU 1 67364950 67364950 single base substitution G A intron_variant PACA-AU 1 67365666 67365666 single base substitution G A downstream_gene_variant PACA-AU 1 67365666 67365666 single base substitution G A intron_variant PACA-AU 1 67371709 67371709 single base substitution C T intron_variant PACA-AU 1 67371709 67371709 single base substitution C T upstream_gene_variant PACA-AU 1 67376016 67376016 deletion of <=200bp A - intron_variant PACA-AU 1 67376016 67376016 deletion of <=200bp A - upstream_gene_variant PACA-AU 1 67383150 67383150 deletion of <=200bp A - downstream_gene_variant PACA-AU 1 67383150 67383150 deletion of <=200bp A - intron_variant PACA-AU 1 67384231 67384231 single base substitution T C downstream_gene_variant PACA-AU 1 67384231 67384231 single base substitution T C intron_variant PACA-AU 1 67384251 67384251 single base substitution A C downstream_gene_variant PACA-AU 1 67384251 67384251 single base substitution A C intron_variant PACA-AU 1 67387437 67387437 single base substitution A T intron_variant PACA-AU 1 67392792 67392792 single base substitution C T upstream_gene_variant PACA-CA 1 67273935 67273935 single base substitution C G downstream_gene_variant PACA-CA 1 67275103 67275103 insertion of <=200bp - AATT downstream_gene_variant PACA-CA 1 67279668 67279668 single base substitution A C 3_prime_UTR_variant PACA-CA 1 67282563 67282563 single base substitution T A intron_variant PACA-CA 1 67286932 67286932 single base substitution C T intron_variant PACA-CA 1 67287117 67287117 single base substitution G C intron_variant PACA-CA 1 67293172 67293172 insertion of <=200bp - A intron_variant PACA-CA 1 67296486 67296486 deletion of <=200bp A - intron_variant PACA-CA 1 67298922 67298922 single base substitution A T downstream_gene_variant PACA-CA 1 67298922 67298922 single base substitution A T intron_variant PACA-CA 1 67300230 67300230 single base substitution A G downstream_gene_variant PACA-CA 1 67300230 67300230 single base substitution A G intron_variant PACA-CA 1 67301998 67301998 single base substitution A G downstream_gene_variant PACA-CA 1 67301998 67301998 single base substitution A G intron_variant PACA-CA 1 67306464 67306464 single base substitution C A intron_variant PACA-CA 1 67308702 67308702 single base substitution G A downstream_gene_variant PACA-CA 1 67308702 67308702 single base substitution G A intron_variant PACA-CA 1 67312190 67312190 single base substitution C T downstream_gene_variant PACA-CA 1 67312190 67312190 single base substitution C T intron_variant PACA-CA 1 67315161 67315161 single base substitution C T intron_variant PACA-CA 1 67316565 67316565 insertion of <=200bp - A intron_variant PACA-CA 1 67316902 67316902 single base substitution G A intron_variant PACA-CA 1 67317296 67317296 single base substitution A C intron_variant PACA-CA 1 67317607 67317607 single base substitution G A intron_variant PACA-CA 1 67325177 67325177 single base substitution A T downstream_gene_variant PACA-CA 1 67325177 67325177 single base substitution A T intron_variant PACA-CA 1 67326872 67326872 single base substitution G A downstream_gene_variant PACA-CA 1 67326872 67326872 single base substitution G A intron_variant PACA-CA 1 67327291 67327291 single base substitution C T downstream_gene_variant PACA-CA 1 67327291 67327291 single base substitution C T intron_variant PACA-CA 1 67327866 67327866 single base substitution G T 3_prime_UTR_variant PACA-CA 1 67327866 67327866 single base substitution G T downstream_gene_variant PACA-CA 1 67327866 67327866 single base substitution G T exon_variant PACA-CA 1 67327866 67327866 single base substitution G T missense_variant Q100K 298C>A PACA-CA 1 67327866 67327866 single base substitution G T missense_variant Q120K 358C>A PACA-CA 1 67327866 67327866 single base substitution G T missense_variant Q354K 1060C>A PACA-CA 1 67327866 67327866 single base substitution G T missense_variant Q41K 121C>A PACA-CA 1 67327866 67327866 single base substitution G T missense_variant Q87K 259C>A PACA-CA 1 67329720 67329720 single base substitution C T intron_variant PACA-CA 1 67329720 67329720 single base substitution C T upstream_gene_variant PACA-CA 1 67330226 67330226 single base substitution A T intron_variant PACA-CA 1 67330226 67330226 single base substitution A T upstream_gene_variant PACA-CA 1 67332000 67332000 single base substitution G A downstream_gene_variant PACA-CA 1 67332000 67332000 single base substitution G A intron_variant PACA-CA 1 67332000 67332000 single base substitution G A upstream_gene_variant PACA-CA 1 67333331 67333331 single base substitution G A downstream_gene_variant PACA-CA 1 67333331 67333331 single base substitution G A intron_variant PACA-CA 1 67334421 67334421 single base substitution A C downstream_gene_variant PACA-CA 1 67334421 67334421 single base substitution A C intron_variant PACA-CA 1 67334443 67334443 single base substitution G A downstream_gene_variant PACA-CA 1 67334443 67334443 single base substitution G A intron_variant PACA-CA 1 67336088 67336088 single base substitution G A downstream_gene_variant PACA-CA 1 67336088 67336088 single base substitution G A intron_variant PACA-CA 1 67337555 67337555 single base substitution G C intron_variant PACA-CA 1 67337555 67337555 single base substitution G C upstream_gene_variant PACA-CA 1 67338400 67338400 single base substitution C A intron_variant PACA-CA 1 67338400 67338400 single base substitution C A upstream_gene_variant PACA-CA 1 67339097 67339097 single base substitution C A intron_variant PACA-CA 1 67339097 67339097 single base substitution C A upstream_gene_variant PACA-CA 1 67341168 67341181 deletion of <=200bp ATGCAAATAATAGA - intron_variant PACA-CA 1 67341168 67341181 deletion of <=200bp ATGCAAATAATAGA - upstream_gene_variant PACA-CA 1 67342218 67342218 single base substitution C G intron_variant PACA-CA 1 67342218 67342218 single base substitution C G upstream_gene_variant PACA-CA 1 67346036 67346036 single base substitution G T intron_variant PACA-CA 1 67346396 67346396 single base substitution G T intron_variant PACA-CA 1 67347903 67347903 single base substitution C T intron_variant PACA-CA 1 67349836 67349836 single base substitution G A intron_variant PACA-CA 1 67352583 67352583 single base substitution G A intron_variant PACA-CA 1 67356861 67356861 single base substitution G A 3_prime_UTR_variant PACA-CA 1 67356861 67356861 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant PACA-CA 1 67356861 67356861 single base substitution G A downstream_gene_variant PACA-CA 1 67356861 67356861 single base substitution G A exon_variant PACA-CA 1 67356861 67356861 single base substitution G A missense_variant R207W 619C>T PACA-CA 1 67358649 67358649 insertion of <=200bp - G downstream_gene_variant PACA-CA 1 67358649 67358649 insertion of <=200bp - G intron_variant PACA-CA 1 67358750 67358750 single base substitution A G downstream_gene_variant PACA-CA 1 67358750 67358750 single base substitution A G intron_variant PACA-CA 1 67362848 67362848 single base substitution T A intron_variant PACA-CA 1 67363443 67363443 single base substitution C T intron_variant PACA-CA 1 67365945 67365945 single base substitution C T downstream_gene_variant PACA-CA 1 67365945 67365945 single base substitution C T intron_variant PACA-CA 1 67369018 67369018 single base substitution A G downstream_gene_variant PACA-CA 1 67369018 67369018 single base substitution A G intron_variant PACA-CA 1 67369784 67369784 single base substitution T A downstream_gene_variant PACA-CA 1 67369784 67369784 single base substitution T A intron_variant PACA-CA 1 67372642 67372642 deletion of <=200bp G - 5_prime_UTR_variant PACA-CA 1 67372642 67372642 deletion of <=200bp G - intron_variant PACA-CA 1 67372642 67372642 deletion of <=200bp G - upstream_gene_variant PACA-CA 1 67373431 67373431 single base substitution A G intron_variant PACA-CA 1 67373431 67373431 single base substitution A G upstream_gene_variant PACA-CA 1 67376611 67376611 single base substitution G A intron_variant PACA-CA 1 67376611 67376611 single base substitution G A upstream_gene_variant PACA-CA 1 67378655 67378655 deletion of <=200bp T - intron_variant PACA-CA 1 67385627 67385627 single base substitution G C downstream_gene_variant PACA-CA 1 67385627 67385627 single base substitution G C intron_variant PACA-CA 1 67390725 67390725 single base substitution C T upstream_gene_variant PAEN-AU 1 67278151 67278151 single base substitution G C downstream_gene_variant PAEN-AU 1 67278157 67278157 single base substitution G C downstream_gene_variant PAEN-AU 1 67301891 67301891 single base substitution G A downstream_gene_variant PAEN-AU 1 67301891 67301891 single base substitution G A intron_variant PAEN-AU 1 67313915 67313915 single base substitution C T 3_prime_UTR_variant PAEN-AU 1 67313915 67313915 single base substitution C T intron_variant PAEN-AU 1 67358800 67358800 single base substitution G A downstream_gene_variant PAEN-AU 1 67358800 67358800 single base substitution G A intron_variant PAEN-AU 1 67358896 67358896 single base substitution T C downstream_gene_variant PAEN-AU 1 67358896 67358896 single base substitution T C intron_variant PAEN-AU 1 67371437 67371437 single base substitution C T intron_variant PAEN-AU 1 67371437 67371437 single base substitution C T upstream_gene_variant PAEN-IT 1 67344797 67344797 single base substitution C G intron_variant PAEN-IT 1 67344797 67344797 single base substitution C G upstream_gene_variant PBCA-DE 1 67277034 67277034 single base substitution T C downstream_gene_variant PBCA-DE 1 67279485 67279485 single base substitution G A 3_prime_UTR_variant PBCA-DE 1 67279485 67279485 single base substitution G A downstream_gene_variant PBCA-DE 1 67280227 67280227 single base substitution A G intron_variant PBCA-DE 1 67283967 67283967 single base substitution A G intron_variant PBCA-DE 1 67294620 67294620 single base substitution C T intron_variant PBCA-DE 1 67301998 67301998 single base substitution A G downstream_gene_variant PBCA-DE 1 67301998 67301998 single base substitution A G intron_variant PBCA-DE 1 67302892 67302892 single base substitution C T downstream_gene_variant PBCA-DE 1 67302892 67302892 single base substitution C T intron_variant PBCA-DE 1 67311523 67311524 deletion of <=200bp GT - downstream_gene_variant PBCA-DE 1 67311523 67311524 deletion of <=200bp GT - intron_variant PBCA-DE 1 67316566 67316566 insertion of <=200bp - A intron_variant PBCA-DE 1 67326020 67326020 single base substitution T A downstream_gene_variant PBCA-DE 1 67326020 67326020 single base substitution T A intron_variant PBCA-DE 1 67333237 67333237 insertion of <=200bp - T downstream_gene_variant PBCA-DE 1 67333237 67333237 insertion of <=200bp - T intron_variant PBCA-DE 1 67334800 67334801 deletion of <=200bp AT - downstream_gene_variant PBCA-DE 1 67334800 67334801 deletion of <=200bp AT - intron_variant PBCA-DE 1 67340743 67340743 single base substitution C A intron_variant PBCA-DE 1 67340743 67340743 single base substitution C A upstream_gene_variant PBCA-DE 1 67340745 67340745 single base substitution G A intron_variant PBCA-DE 1 67340745 67340745 single base substitution G A upstream_gene_variant PBCA-DE 1 67341455 67341455 single base substitution G A intron_variant PBCA-DE 1 67341455 67341455 single base substitution G A upstream_gene_variant PBCA-DE 1 67348626 67348626 deletion of <=200bp T - intron_variant PBCA-DE 1 67353375 67353375 single base substitution G A intron_variant PBCA-DE 1 67356569 67356569 single base substitution C A 3_prime_UTR_variant PBCA-DE 1 67356569 67356569 single base substitution C A downstream_gene_variant PBCA-DE 1 67356569 67356569 single base substitution C A intron_variant PBCA-DE 1 67374969 67374970 deletion of <=200bp AC - intron_variant PBCA-DE 1 67374969 67374970 deletion of <=200bp AC - upstream_gene_variant PBCA-DE 1 67383562 67383562 single base substitution C T downstream_gene_variant PBCA-DE 1 67383562 67383562 single base substitution C T intron_variant PBCA-DE 1 67393289 67393289 single base substitution G A upstream_gene_variant PRAD-CA 1 67275027 67275027 single base substitution G T downstream_gene_variant PRAD-CA 1 67287072 67287072 single base substitution G A intron_variant PRAD-CA 1 67301896 67301896 single base substitution A G downstream_gene_variant PRAD-CA 1 67301896 67301896 single base substitution A G intron_variant PRAD-CA 1 67301949 67301949 single base substitution A G downstream_gene_variant PRAD-CA 1 67301949 67301949 single base substitution A G intron_variant PRAD-CA 1 67358750 67358750 single base substitution A G downstream_gene_variant PRAD-CA 1 67358750 67358750 single base substitution A G intron_variant PRAD-CA 1 67388712 67388712 single base substitution G A intron_variant PRAD-UK 1 67292215 67292215 single base substitution A T intron_variant PRAD-UK 1 67298663 67298663 single base substitution T A downstream_gene_variant PRAD-UK 1 67298663 67298663 single base substitution T A intron_variant PRAD-UK 1 67314372 67314372 insertion of <=200bp - TA intron_variant PRAD-UK 1 67343314 67343314 single base substitution C T intron_variant PRAD-UK 1 67343314 67343314 single base substitution C T upstream_gene_variant PRAD-UK 1 67348736 67348736 single base substitution G C intron_variant PRAD-UK 1 67349423 67349423 single base substitution T C intron_variant PRAD-UK 1 67377707 67377707 single base substitution T C intron_variant PRAD-UK 1 67390532 67390532 single base substitution G T 5_prime_UTR_variant PRAD-UK 1 67390532 67390532 single base substitution G T upstream_gene_variant PRAD-UK 1 67390712 67390712 single base substitution A C upstream_gene_variant PRAD-UK 1 67391596 67391596 single base substitution T A upstream_gene_variant READ-US 1 67327927 67327927 single base substitution A G 3_prime_UTR_variant READ-US 1 67327927 67327927 single base substitution A G downstream_gene_variant READ-US 1 67327927 67327927 single base substitution A G exon_variant READ-US 1 67327927 67327927 single base substitution A G synonymous_variant S20S 60T>C READ-US 1 67327927 67327927 single base substitution A G synonymous_variant S333S 999T>C READ-US 1 67327927 67327927 single base substitution A G synonymous_variant S66S 198T>C READ-US 1 67327927 67327927 single base substitution A G synonymous_variant S79S 237T>C READ-US 1 67327927 67327927 single base substitution A G synonymous_variant S99S 297T>C READ-US 1 67358911 67358911 single base substitution C T downstream_gene_variant READ-US 1 67358911 67358911 single base substitution C T splice_donor_variant READ-US 1 67370934 67370934 single base substitution G A 3_prime_UTR_variant READ-US 1 67370934 67370934 single base substitution G A 5_prime_UTR_variant READ-US 1 67370934 67370934 single base substitution G A exon_variant READ-US 1 67370934 67370934 single base substitution G A intron_variant READ-US 1 67370934 67370934 single base substitution G A missense_variant P27S 79C>T READ-US 1 67370934 67370934 single base substitution G A missense_variant P99S 295C>T RECA-EU 1 67276481 67276481 single base substitution T A downstream_gene_variant RECA-EU 1 67282060 67282060 single base substitution A G intron_variant RECA-EU 1 67292379 67292379 single base substitution C T intron_variant RECA-EU 1 67301897 67301897 single base substitution G A downstream_gene_variant RECA-EU 1 67301897 67301897 single base substitution G A intron_variant RECA-EU 1 67303564 67303564 single base substitution T A intron_variant RECA-EU 1 67308106 67308106 single base substitution C A intron_variant RECA-EU 1 67308107 67308107 single base substitution T A intron_variant RECA-EU 1 67313084 67313084 single base substitution C G downstream_gene_variant RECA-EU 1 67313084 67313084 single base substitution C G intron_variant RECA-EU 1 67329963 67329963 single base substitution A C intron_variant RECA-EU 1 67329963 67329963 single base substitution A C upstream_gene_variant RECA-EU 1 67342751 67342751 single base substitution T A intron_variant RECA-EU 1 67342751 67342751 single base substitution T A upstream_gene_variant RECA-EU 1 67349265 67349265 single base substitution C A intron_variant RECA-EU 1 67357773 67357773 single base substitution C T downstream_gene_variant RECA-EU 1 67357773 67357773 single base substitution C T intron_variant RECA-EU 1 67358744 67358744 single base substitution G A downstream_gene_variant RECA-EU 1 67358744 67358744 single base substitution G A intron_variant RECA-EU 1 67358748 67358748 single base substitution G A downstream_gene_variant RECA-EU 1 67358748 67358748 single base substitution G A intron_variant RECA-EU 1 67362223 67362223 single base substitution T A intron_variant RECA-EU 1 67362958 67362958 single base substitution C G intron_variant RECA-EU 1 67367116 67367116 single base substitution C T downstream_gene_variant RECA-EU 1 67367116 67367116 single base substitution C T intron_variant RECA-EU 1 67367589 67367589 single base substitution T G downstream_gene_variant RECA-EU 1 67367589 67367589 single base substitution T G intron_variant RECA-EU 1 67381176 67381176 single base substitution A G intron_variant RECA-EU 1 67386646 67386646 single base substitution T C downstream_gene_variant RECA-EU 1 67386646 67386646 single base substitution T C intron_variant SKCA-BR 1 67273777 67273777 single base substitution G A downstream_gene_variant SKCA-BR 1 67273788 67273788 single base substitution C T downstream_gene_variant SKCA-BR 1 67274066 67274066 single base substitution T A downstream_gene_variant SKCA-BR 1 67276655 67276655 single base substitution G A downstream_gene_variant SKCA-BR 1 67277344 67277344 single base substitution G A downstream_gene_variant SKCA-BR 1 67282368 67282368 single base substitution G A intron_variant SKCA-BR 1 67284399 67284399 single base substitution C T intron_variant SKCA-BR 1 67286539 67286539 single base substitution A C intron_variant SKCA-BR 1 67286712 67286712 single base substitution A G intron_variant SKCA-BR 1 67287266 67287266 single base substitution A G intron_variant SKCA-BR 1 67288045 67288045 single base substitution C T missense_variant R545Q 1634G>A SKCA-BR 1 67288045 67288045 single base substitution C T missense_variant R565Q 1694G>A SKCA-BR 1 67288045 67288045 single base substitution C T missense_variant R832Q 2495G>A SKCA-BR 1 67288045 67288045 single base substitution C T splice_region_variant SKCA-BR 1 67288917 67288917 single base substitution G A intron_variant SKCA-BR 1 67289963 67289963 single base substitution G A intron_variant SKCA-BR 1 67296661 67296661 insertion of <=200bp - AAAG intron_variant SKCA-BR 1 67297763 67297763 single base substitution A C intron_variant SKCA-BR 1 67298234 67298234 single base substitution T G intron_variant SKCA-BR 1 67298391 67298391 single base substitution G A downstream_gene_variant SKCA-BR 1 67298391 67298391 single base substitution G A intron_variant SKCA-BR 1 67298756 67298756 single base substitution C T downstream_gene_variant SKCA-BR 1 67298756 67298756 single base substitution C T intron_variant SKCA-BR 1 67299581 67299581 single base substitution C T downstream_gene_variant SKCA-BR 1 67299581 67299581 single base substitution C T intron_variant SKCA-BR 1 67300153 67300153 single base substitution T C downstream_gene_variant SKCA-BR 1 67300153 67300153 single base substitution T C intron_variant SKCA-BR 1 67300872 67300872 insertion of <=200bp - TAGAC downstream_gene_variant SKCA-BR 1 67300872 67300872 insertion of <=200bp - TAGAC intron_variant SKCA-BR 1 67301822 67301823 deletion of <=200bp GA - downstream_gene_variant SKCA-BR 1 67301822 67301823 deletion of <=200bp GA - intron_variant SKCA-BR 1 67301871 67301889 deletion of <=200bp GAAAGAAAGAAAGAAAGAA - downstream_gene_variant SKCA-BR 1 67301871 67301889 deletion of <=200bp GAAAGAAAGAAAGAAAGAA - intron_variant SKCA-BR 1 67301883 67301889 deletion of <=200bp GAAAGAA - downstream_gene_variant SKCA-BR 1 67301883 67301889 deletion of <=200bp GAAAGAA - intron_variant SKCA-BR 1 67301885 67301893 deletion of <=200bp AAGAAAGAG - downstream_gene_variant SKCA-BR 1 67301885 67301893 deletion of <=200bp AAGAAAGAG - intron_variant SKCA-BR 1 67301893 67301893 single base substitution G A downstream_gene_variant SKCA-BR 1 67301893 67301893 single base substitution G A intron_variant SKCA-BR 1 67301933 67301949 deletion of <=200bp GAGAGAGAAAGAAAGAA - downstream_gene_variant SKCA-BR 1 67301933 67301949 deletion of <=200bp GAGAGAGAAAGAAAGAA - intron_variant SKCA-BR 1 67303047 67303047 insertion of <=200bp - CAA downstream_gene_variant SKCA-BR 1 67303047 67303047 insertion of <=200bp - CAA intron_variant SKCA-BR 1 67306033 67306033 single base substitution A C intron_variant SKCA-BR 1 67309072 67309072 single base substitution C T downstream_gene_variant SKCA-BR 1 67309072 67309072 single base substitution C T intron_variant SKCA-BR 1 67309785 67309785 insertion of <=200bp - AC downstream_gene_variant SKCA-BR 1 67309785 67309785 insertion of <=200bp - AC intron_variant SKCA-BR 1 67313257 67313257 single base substitution G A 3_prime_UTR_variant SKCA-BR 1 67313257 67313257 single base substitution G A downstream_gene_variant SKCA-BR 1 67313257 67313257 single base substitution G A intron_variant SKCA-BR 1 67313257 67313257 single base substitution G A missense_variant H147Y 439C>T SKCA-BR 1 67313257 67313257 single base substitution G A missense_variant H167Y 499C>T SKCA-BR 1 67313257 67313257 single base substitution G A missense_variant H401Y 1201C>T SKCA-BR 1 67314967 67314967 single base substitution G A intron_variant SKCA-BR 1 67318018 67318018 single base substitution C A intron_variant SKCA-BR 1 67319871 67319871 single base substitution T C intron_variant SKCA-BR 1 67322371 67322371 single base substitution G A downstream_gene_variant SKCA-BR 1 67322371 67322371 single base substitution G A intron_variant SKCA-BR 1 67324099 67324099 single base substitution C T downstream_gene_variant SKCA-BR 1 67324099 67324099 single base substitution C T intron_variant SKCA-BR 1 67325203 67325203 single base substitution C T downstream_gene_variant SKCA-BR 1 67325203 67325203 single base substitution C T intron_variant SKCA-BR 1 67326316 67326316 single base substitution T A downstream_gene_variant SKCA-BR 1 67326316 67326316 single base substitution T A intron_variant SKCA-BR 1 67326569 67326569 single base substitution G A downstream_gene_variant SKCA-BR 1 67326569 67326569 single base substitution G A intron_variant SKCA-BR 1 67330364 67330364 single base substitution C T intron_variant SKCA-BR 1 67330364 67330364 single base substitution C T upstream_gene_variant SKCA-BR 1 67330726 67330726 single base substitution C G intron_variant SKCA-BR 1 67330726 67330726 single base substitution C G upstream_gene_variant SKCA-BR 1 67331002 67331002 single base substitution G A intron_variant SKCA-BR 1 67331002 67331002 single base substitution G A upstream_gene_variant SKCA-BR 1 67331696 67331696 single base substitution G A downstream_gene_variant SKCA-BR 1 67331696 67331696 single base substitution G A intron_variant SKCA-BR 1 67331696 67331696 single base substitution G A upstream_gene_variant SKCA-BR 1 67331996 67331996 single base substitution A T downstream_gene_variant SKCA-BR 1 67331996 67331996 single base substitution A T intron_variant SKCA-BR 1 67331996 67331996 single base substitution A T upstream_gene_variant SKCA-BR 1 67334335 67334335 single base substitution G A downstream_gene_variant SKCA-BR 1 67334335 67334335 single base substitution G A intron_variant SKCA-BR 1 67339878 67339878 single base substitution C T intron_variant SKCA-BR 1 67339878 67339878 single base substitution C T upstream_gene_variant SKCA-BR 1 67341202 67341202 single base substitution A T intron_variant SKCA-BR 1 67341202 67341202 single base substitution A T upstream_gene_variant SKCA-BR 1 67344154 67344154 single base substitution G A intron_variant SKCA-BR 1 67344154 67344154 single base substitution G A upstream_gene_variant SKCA-BR 1 67345687 67345687 single base substitution C T intron_variant SKCA-BR 1 67346486 67346486 single base substitution G A intron_variant SKCA-BR 1 67346629 67346629 single base substitution T C intron_variant SKCA-BR 1 67346730 67346730 single base substitution G A intron_variant SKCA-BR 1 67348863 67348863 single base substitution C T intron_variant SKCA-BR 1 67350359 67350359 single base substitution G A intron_variant SKCA-BR 1 67352630 67352630 single base substitution A C intron_variant SKCA-BR 1 67352636 67352636 single base substitution A C intron_variant SKCA-BR 1 67355491 67355491 single base substitution C T downstream_gene_variant SKCA-BR 1 67355491 67355491 single base substitution C T intron_variant SKCA-BR 1 67355750 67355750 single base substitution G A downstream_gene_variant SKCA-BR 1 67355750 67355750 single base substitution G A intron_variant SKCA-BR 1 67356400 67356400 single base substitution G A 3_prime_UTR_variant SKCA-BR 1 67356400 67356400 single base substitution G A downstream_gene_variant SKCA-BR 1 67356400 67356400 single base substitution G A intron_variant SKCA-BR 1 67358605 67358605 single base substitution G A downstream_gene_variant SKCA-BR 1 67358605 67358605 single base substitution G A intron_variant SKCA-BR 1 67358633 67358633 insertion of <=200bp - GAAGAAAGAAAGAAAGA downstream_gene_variant SKCA-BR 1 67358633 67358633 insertion of <=200bp - GAAGAAAGAAAGAAAGA intron_variant SKCA-BR 1 67358633 67358633 insertion of <=200bp - GAAGAAAGA downstream_gene_variant SKCA-BR 1 67358633 67358633 insertion of <=200bp - GAAGAAAGA intron_variant SKCA-BR 1 67358744 67358744 single base substitution G A downstream_gene_variant SKCA-BR 1 67358744 67358744 single base substitution G A intron_variant SKCA-BR 1 67358748 67358748 single base substitution G A downstream_gene_variant SKCA-BR 1 67358748 67358748 single base substitution G A intron_variant SKCA-BR 1 67358752 67358754 deletion of <=200bp GAA - downstream_gene_variant SKCA-BR 1 67358752 67358754 deletion of <=200bp GAA - intron_variant SKCA-BR 1 67360229 67360229 single base substitution T C intron_variant SKCA-BR 1 67367448 67367448 single base substitution G A downstream_gene_variant SKCA-BR 1 67367448 67367448 single base substitution G A intron_variant SKCA-BR 1 67367741 67367741 single base substitution T C downstream_gene_variant SKCA-BR 1 67367741 67367741 single base substitution T C intron_variant SKCA-BR 1 67367745 67367745 single base substitution G A downstream_gene_variant SKCA-BR 1 67367745 67367745 single base substitution G A intron_variant SKCA-BR 1 67369246 67369247 deletion of <=200bp GC - downstream_gene_variant SKCA-BR 1 67369246 67369247 deletion of <=200bp GC - intron_variant SKCA-BR 1 67369248 67369248 single base substitution T G downstream_gene_variant SKCA-BR 1 67369248 67369248 single base substitution T G intron_variant SKCA-BR 1 67369256 67369256 single base substitution A C downstream_gene_variant SKCA-BR 1 67369256 67369256 single base substitution A C intron_variant SKCA-BR 1 67369322 67369322 single base substitution A C downstream_gene_variant SKCA-BR 1 67369322 67369322 single base substitution A C intron_variant SKCA-BR 1 67375038 67375038 insertion of <=200bp - GC intron_variant SKCA-BR 1 67375038 67375038 insertion of <=200bp - GC upstream_gene_variant SKCA-BR 1 67381766 67381766 insertion of <=200bp - TA intron_variant SKCA-BR 1 67384750 67384750 single base substitution G A 3_prime_UTR_variant SKCA-BR 1 67384750 67384750 single base substitution G A downstream_gene_variant SKCA-BR 1 67384750 67384750 single base substitution G A intron_variant SKCA-BR 1 67385291 67385291 single base substitution G A downstream_gene_variant SKCA-BR 1 67385291 67385291 single base substitution G A intron_variant SKCA-BR 1 67385296 67385296 single base substitution A T downstream_gene_variant SKCA-BR 1 67385296 67385296 single base substitution A T intron_variant SKCA-BR 1 67387578 67387579 deletion of <=200bp AT - intron_variant SKCA-BR 1 67388015 67388015 insertion of <=200bp - TGA intron_variant SKCA-BR 1 67388016 67388016 single base substitution T C intron_variant SKCA-BR 1 67392809 67392809 single base substitution C T upstream_gene_variant SKCM-US 1 67292641 67292641 deletion of <=200bp T - 3_prime_UTR_variant SKCM-US 1 67292641 67292641 deletion of <=200bp T - frameshift_variant Q447 SKCM-US 1 67292641 67292641 deletion of <=200bp T - frameshift_variant Q467 SKCM-US 1 67292641 67292641 deletion of <=200bp T - frameshift_variant Q734 SKCM-US 1 67299299 67299299 single base substitution G A 3_prime_UTR_variant SKCM-US 1 67299299 67299299 single base substitution G A downstream_gene_variant SKCM-US 1 67299299 67299299 single base substitution G A missense_variant A407V 1220C>T SKCM-US 1 67299299 67299299 single base substitution G A missense_variant A427V 1280C>T SKCM-US 1 67299299 67299299 single base substitution G A missense_variant A661V 1982C>T SKCM-US 1 67299694 67299694 single base substitution C T 3_prime_UTR_variant SKCM-US 1 67299694 67299694 single base substitution C T downstream_gene_variant SKCM-US 1 67299694 67299694 single base substitution C T missense_variant R370Q 1109G>A SKCM-US 1 67299694 67299694 single base substitution C T missense_variant R390Q 1169G>A SKCM-US 1 67299694 67299694 single base substitution C T missense_variant R624Q 1871G>A SKCM-US 1 67299708 67299708 single base substitution G A 3_prime_UTR_variant SKCM-US 1 67299708 67299708 single base substitution G A downstream_gene_variant SKCM-US 1 67299708 67299708 single base substitution G A synonymous_variant S365S 1095C>T SKCM-US 1 67299708 67299708 single base substitution G A synonymous_variant S385S 1155C>T SKCM-US 1 67299708 67299708 single base substitution G A synonymous_variant S619S 1857C>T SKCM-US 1 67301341 67301341 single base substitution C T downstream_gene_variant SKCM-US 1 67301341 67301341 single base substitution C T intron_variant SKCM-US 1 67301341 67301341 single base substitution C T synonymous_variant R313R 939G>A SKCM-US 1 67301341 67301341 single base substitution C T synonymous_variant R333R 999G>A SKCM-US 1 67301341 67301341 single base substitution C T synonymous_variant R567R 1701G>A SKCM-US 1 67301343 67301343 single base substitution G A downstream_gene_variant SKCM-US 1 67301343 67301343 single base substitution G A intron_variant SKCM-US 1 67301343 67301343 single base substitution G A missense_variant R313W 937C>T SKCM-US 1 67301343 67301343 single base substitution G A missense_variant R333W 997C>T SKCM-US 1 67301343 67301343 single base substitution G A missense_variant R567W 1699C>T SKCM-US 1 67303398 67303398 single base substitution G A 3_prime_UTR_variant SKCM-US 1 67303398 67303398 single base substitution G A missense_variant P148S 442C>T SKCM-US 1 67303398 67303398 single base substitution G A missense_variant P272S 814C>T SKCM-US 1 67303398 67303398 single base substitution G A missense_variant P292S 874C>T SKCM-US 1 67303398 67303398 single base substitution G A missense_variant P526S 1576C>T SKCM-US 1 67306349 67306349 single base substitution C T 3_prime_UTR_variant SKCM-US 1 67306349 67306349 single base substitution C T missense_variant E179K 535G>A SKCM-US 1 67306349 67306349 single base substitution C T missense_variant E199K 595G>A SKCM-US 1 67306349 67306349 single base substitution C T missense_variant E433K 1297G>A SKCM-US 1 67306349 67306349 single base substitution C T missense_variant E55K 163G>A SKCM-US 1 67313257 67313257 single base substitution G A 3_prime_UTR_variant SKCM-US 1 67313257 67313257 single base substitution G A downstream_gene_variant SKCM-US 1 67313257 67313257 single base substitution G A intron_variant SKCM-US 1 67313257 67313257 single base substitution G A missense_variant H147Y 439C>T SKCM-US 1 67313257 67313257 single base substitution G A missense_variant H167Y 499C>T SKCM-US 1 67313257 67313257 single base substitution G A missense_variant H401Y 1201C>T SKCM-US 1 67313308 67313308 single base substitution G A 3_prime_UTR_variant SKCM-US 1 67313308 67313308 single base substitution G A downstream_gene_variant SKCM-US 1 67313308 67313308 single base substitution G A intron_variant SKCM-US 1 67313308 67313308 single base substitution G A missense_variant H130Y 388C>T SKCM-US 1 67313308 67313308 single base substitution G A missense_variant H150Y 448C>T SKCM-US 1 67313308 67313308 single base substitution G A missense_variant H384Y 1150C>T SKCM-US 1 67340619 67340619 single base substitution A T intron_variant SKCM-US 1 67340619 67340619 single base substitution A T missense_variant D215E 645T>A SKCM-US 1 67340619 67340619 single base substitution A T splice_region_variant SKCM-US 1 67340619 67340619 single base substitution A T upstream_gene_variant SKCM-US 1 67356859 67356859 single base substitution C T 3_prime_UTR_variant SKCM-US 1 67356859 67356859 single base substitution C T 5_prime_UTR_variant SKCM-US 1 67356859 67356859 single base substitution C T downstream_gene_variant SKCM-US 1 67356859 67356859 single base substitution C T exon_variant SKCM-US 1 67356859 67356859 single base substitution C T synonymous_variant R207R 621G>A SKCM-US 1 67390495 67390495 single base substitution G A 5_prime_UTR_variant SKCM-US 1 67390495 67390495 single base substitution G A exon_variant SKCM-US 1 67390495 67390495 single base substitution G A missense_variant S7F 20C>T SKCM-US 1 67390495 67390495 single base substitution G A upstream_gene_variant STAD-US 1 67292585 67292585 single base substitution C T 3_prime_UTR_variant STAD-US 1 67292585 67292585 single base substitution C T missense_variant V466I 1396G>A STAD-US 1 67292585 67292585 single base substitution C T missense_variant V486I 1456G>A STAD-US 1 67292585 67292585 single base substitution C T missense_variant V753I 2257G>A STAD-US 1 67292601 67292601 single base substitution A T 3_prime_UTR_variant STAD-US 1 67292601 67292601 single base substitution A T synonymous_variant T460T 1380T>A STAD-US 1 67292601 67292601 single base substitution A T synonymous_variant T480T 1440T>A STAD-US 1 67292601 67292601 single base substitution A T synonymous_variant T747T 2241T>A STAD-US 1 67292680 67292680 insertion of <=200bp - A 3_prime_UTR_variant STAD-US 1 67292680 67292680 insertion of <=200bp - A frameshift_variant L434F? STAD-US 1 67292680 67292680 insertion of <=200bp - A frameshift_variant L454F? STAD-US 1 67292680 67292680 insertion of <=200bp - A frameshift_variant L721F? STAD-US 1 67301455 67301455 single base substitution T C downstream_gene_variant STAD-US 1 67301455 67301455 single base substitution T C intron_variant STAD-US 1 67301455 67301455 single base substitution T C synonymous_variant P275P 825A>G STAD-US 1 67301455 67301455 single base substitution T C synonymous_variant P295P 885A>G STAD-US 1 67301455 67301455 single base substitution T C synonymous_variant P529P 1587A>G STAD-US 1 67306239 67306239 single base substitution G A 3_prime_UTR_variant STAD-US 1 67306239 67306239 single base substitution G A synonymous_variant P215P 645C>T STAD-US 1 67306239 67306239 single base substitution G A synonymous_variant P235P 705C>T STAD-US 1 67306239 67306239 single base substitution G A synonymous_variant P469P 1407C>T STAD-US 1 67306239 67306239 single base substitution G A synonymous_variant P91P 273C>T STAD-US 1 67306240 67306240 single base substitution G A 3_prime_UTR_variant STAD-US 1 67306240 67306240 single base substitution G A missense_variant P215L 644C>T STAD-US 1 67306240 67306240 single base substitution G A missense_variant P235L 704C>T STAD-US 1 67306240 67306240 single base substitution G A missense_variant P469L 1406C>T STAD-US 1 67306240 67306240 single base substitution G A missense_variant P91L 272C>T STAD-US 1 67313177 67313177 single base substitution A G 3_prime_UTR_variant STAD-US 1 67313177 67313177 single base substitution A G downstream_gene_variant STAD-US 1 67313177 67313177 single base substitution A G intron_variant STAD-US 1 67313177 67313177 single base substitution A G synonymous_variant P173P 519T>C STAD-US 1 67313177 67313177 single base substitution A G synonymous_variant P193P 579T>C STAD-US 1 67313177 67313177 single base substitution A G synonymous_variant P427P 1281T>C STAD-US 1 67337080 67337080 single base substitution A T 3_prime_UTR_variant STAD-US 1 67337080 67337080 single base substitution A T missense_variant C305S 913T>A STAD-US 1 67337080 67337080 single base substitution A T missense_variant C38S 112T>A STAD-US 1 67337080 67337080 single base substitution A T missense_variant C51S 151T>A STAD-US 1 67337080 67337080 single base substitution A T missense_variant C71S 211T>A STAD-US 1 67356835 67356835 single base substitution A G downstream_gene_variant STAD-US 1 67356835 67356835 single base substitution A G exon_variant STAD-US 1 67356835 67356835 single base substitution A G splice_donor_variant STAD-US 1 67356850 67356850 single base substitution C T 3_prime_UTR_variant STAD-US 1 67356850 67356850 single base substitution C T 5_prime_UTR_variant STAD-US 1 67356850 67356850 single base substitution C T downstream_gene_variant STAD-US 1 67356850 67356850 single base substitution C T exon_variant STAD-US 1 67356850 67356850 single base substitution C T synonymous_variant L210L 630G>A STAD-US 1 67358960 67358960 single base substitution C G 3_prime_UTR_variant STAD-US 1 67358960 67358960 single base substitution C G 5_prime_UTR_variant STAD-US 1 67358960 67358960 single base substitution C G exon_variant STAD-US 1 67358960 67358960 single base substitution C G missense_variant S161T 482G>C UCEC-US 1 67292588 67292588 single base substitution C T 3_prime_UTR_variant UCEC-US 1 67292588 67292588 single base substitution C T missense_variant D465N 1393G>A UCEC-US 1 67292588 67292588 single base substitution C T missense_variant D485N 1453G>A UCEC-US 1 67292588 67292588 single base substitution C T missense_variant D752N 2254G>A UCEC-US 1 67293571 67293571 single base substitution C A 3_prime_UTR_variant UCEC-US 1 67293571 67293571 single base substitution C A intron_variant UCEC-US 1 67293571 67293571 single base substitution C A missense_variant G679V 2036G>T UCEC-US 1 67299384 67299384 single base substitution T A 3_prime_UTR_variant UCEC-US 1 67299384 67299384 single base substitution T A downstream_gene_variant UCEC-US 1 67299384 67299384 single base substitution T A missense_variant M379L 1135A>T UCEC-US 1 67299384 67299384 single base substitution T A missense_variant M399L 1195A>T UCEC-US 1 67299384 67299384 single base substitution T A missense_variant M633L 1897A>T UCEC-US 1 67301343 67301343 single base substitution G A downstream_gene_variant UCEC-US 1 67301343 67301343 single base substitution G A intron_variant UCEC-US 1 67301343 67301343 single base substitution G A missense_variant R313W 937C>T UCEC-US 1 67301343 67301343 single base substitution G A missense_variant R333W 997C>T UCEC-US 1 67301343 67301343 single base substitution G A missense_variant R567W 1699C>T UCEC-US 1 67301358 67301358 single base substitution C T downstream_gene_variant UCEC-US 1 67301358 67301358 single base substitution C T intron_variant UCEC-US 1 67301358 67301358 single base substitution C T missense_variant A308T 922G>A UCEC-US 1 67301358 67301358 single base substitution C T missense_variant A328T 982G>A UCEC-US 1 67301358 67301358 single base substitution C T missense_variant A562T 1684G>A UCEC-US 1 67301445 67301445 single base substitution A G downstream_gene_variant UCEC-US 1 67301445 67301445 single base substitution A G intron_variant UCEC-US 1 67301445 67301445 single base substitution A G missense_variant Y279H 835T>C UCEC-US 1 67301445 67301445 single base substitution A G missense_variant Y299H 895T>C UCEC-US 1 67301445 67301445 single base substitution A G missense_variant Y533H 1597T>C UCEC-US 1 67306304 67306304 single base substitution C A 3_prime_UTR_variant UCEC-US 1 67306304 67306304 single base substitution C A stop_gained E194* 580G>T UCEC-US 1 67306304 67306304 single base substitution C A stop_gained E214* 640G>T UCEC-US 1 67306304 67306304 single base substitution C A stop_gained E448* 1342G>T UCEC-US 1 67306304 67306304 single base substitution C A stop_gained E70* 208G>T UCEC-US 1 67306345 67306345 single base substitution G A 3_prime_UTR_variant UCEC-US 1 67306345 67306345 single base substitution G A missense_variant P180L 539C>T UCEC-US 1 67306345 67306345 single base substitution G A missense_variant P200L 599C>T UCEC-US 1 67306345 67306345 single base substitution G A missense_variant P434L 1301C>T UCEC-US 1 67306345 67306345 single base substitution G A missense_variant P56L 167C>T UCEC-US 1 67313332 67313332 single base substitution C A 3_prime_UTR_variant UCEC-US 1 67313332 67313332 single base substitution C A downstream_gene_variant UCEC-US 1 67313332 67313332 single base substitution C A intron_variant UCEC-US 1 67313332 67313332 single base substitution C A stop_gained E122* 364G>T UCEC-US 1 67313332 67313332 single base substitution C A stop_gained E142* 424G>T UCEC-US 1 67313332 67313332 single base substitution C A stop_gained E376* 1126G>T UCEC-US 1 67337180 67337180 single base substitution C A 3_prime_UTR_variant UCEC-US 1 67337180 67337180 single base substitution C A missense_variant K17N 51G>T UCEC-US 1 67337180 67337180 single base substitution C A missense_variant K271N 813G>T UCEC-US 1 67337180 67337180 single base substitution C A missense_variant K37N 111G>T UCEC-US 1 67337180 67337180 single base substitution C A missense_variant K4N 12G>T UCEC-US 1 67340571 67340571 single base substitution G A 5_prime_UTR_variant UCEC-US 1 67340571 67340571 single base substitution G A intron_variant UCEC-US 1 67340571 67340571 single base substitution G A synonymous_variant D231D 693C>T UCEC-US 1 67340571 67340571 single base substitution G A upstream_gene_variant UCEC-US 1 67356900 67356900 single base substitution C A 3_prime_UTR_variant UCEC-US 1 67356900 67356900 single base substitution C A 5_prime_UTR_variant UCEC-US 1 67356900 67356900 single base substitution C A downstream_gene_variant UCEC-US 1 67356900 67356900 single base substitution C A exon_variant UCEC-US 1 67356900 67356900 single base substitution C A stop_gained E194* 580G>T UCEC-US 1 67356907 67356907 single base substitution T G 3_prime_UTR_variant UCEC-US 1 67356907 67356907 single base substitution T G 5_prime_UTR_variant UCEC-US 1 67356907 67356907 single base substitution T G downstream_gene_variant UCEC-US 1 67356907 67356907 single base substitution T G exon_variant UCEC-US 1 67356907 67356907 single base substitution T G synonymous_variant S191S 573A>C UCEC-US 1 67390376 67390376 single base substitution C T 5_prime_UTR_variant UCEC-US 1 67390376 67390376 single base substitution C T exon_variant UCEC-US 1 67390376 67390376 single base substitution C T missense_variant A47T 139G>A UCEC-US 1 67390504 67390504 single base substitution C T 5_prime_UTR_variant UCEC-US 1 67390504 67390504 single base substitution C T missense_variant G4D 11G>A UCEC-US 1 67390504 67390504 single base substitution C T upstream_gene_variant UCEC-US 1 67390729 67390729 single base substitution A G upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand BCM275T COSM4949374 c.1538A>G p.Q513R Substitution - Missense 1:66837753-66837753 - TCGA-G4-6588-01 COSM1344030 c.89delA p.K30fs*28 Deletion - Frameshift 1:66924743-66924743 - 450 COSM4435632 c.2058C>A p.H686Q Substitution - Missense 1:66827866-66827866 - CHC892T COSM4798121 c.2340-1G>A p.? Unknown 1:66822518-66822518 - T98G COSM2240099 c.1048C>A p.L350I Substitution - Missense 1:66862195-66862195 - TCGA-EE-A29L-06 COSM3492004 c.645T>A p.D215E Substitution - Missense 1:66874936-66874936 - CSCC-1-T COSM4559489 c.806G>A p.R269K Substitution - Missense 1:66871504-66871504 - 520 COSM5612155 c.2447_2448TT>AG p.V816E Substitution - Missense 1:66822409-66822410 - SNU-C2B COSM2240118 c.223G>A p.A75T Substitution - Missense 1:66905323-66905323 - TCGA-AH-6897-01 COSM3419419 c.530+1G>A p.? Unknown 1:66893228-66893228 - LUAD-YINHD COSM350103 c.1263A>T p.A421A Substitution - coding silent 1:66847512-66847512 - TCGA-AO-A12E-01 COSM194561 c.1408G>A p.A470T Substitution - Missense 1:66840555-66840555 - LUAD-E00897 COSM364184 c.1389A>T p.A463A Substitution - coding silent 1:66840574-66840574 - CRC-06T COSM5456566 c.2112+3T>C p.? Unknown 1:66827809-66827809 - TCGA-AA-3680-01 COSM268031 c.844G>A p.G282S Substitution - Missense 1:66871466-66871466 - TCGA-EE-A29D-06 COSM3491998 c.1297G>A p.E433K Substitution - Missense 1:66840666-66840666 - TCGA-BS-A0TJ-01 COSM911783 c.139G>A p.A47T Substitution - Missense 1:66924693-66924693 - Esp66 COSM1742569 c.230C>T p.S77L Substitution - Missense 1:66905316-66905316 - TCGA-DD-A119-01 COSM4920053 c.1292A>G p.E431G Substitution - Missense 1:66840671-66840671 - LUAD-S01357 COSM386065 c.2310G>T p.R770S Substitution - Missense 1:66826849-66826849 - LOVO COSM2240110 c.523T>C p.F175L Substitution - Missense 1:66893236-66893236 - TCGA-DD-A3A8-01 COSM4009601 c.630G>A p.L210L Substitution - coding silent 1:66891167-66891167 - TCGA-AX-A0J0-01 COSM911778 c.1126G>T p.E376* Substitution - Nonsense 1:66847649-66847649 - SC_9001 COSM911773 c.1699C>T p.R567W Substitution - Missense 1:66835660-66835660 - YURAY COSM5381446 c.2276C>T p.S759L Substitution - Missense 1:66826883-66826883 - 475 COSM4438361 c.197C>T p.S66F Substitution - Missense 1:66905349-66905349 - BCM269T COSM4949290 c.2062T>C p.C688R Substitution - Missense 1:66827862-66827862 - SNUH_G45_S1 COSM3997640 c.2495G>A p.R832Q Substitution - Missense 1:66822362-66822362 - LP6005500-DNA_D01 COSM5036179 c.2432A>G p.D811G Substitution - Missense 1:66822425-66822425 - 4_RESISTANT COSM1344030 c.89delA p.K30fs*28 Deletion - Frameshift 1:66924743-66924743 - LP6005500-DNA_D01 COSM5036174 c.2431G>T p.D811Y Substitution - Missense 1:66822426-66822426 - Pat_41_B COSM5847238 c.1805G>A p.G602E Substitution - Missense 1:66834077-66834077 - 2530678 COSM5885720 c.1639G>C p.G547R Substitution - Missense 1:66835720-66835720 - TCGA-19-5953-01 COSM2240084 c.1660G>A p.V554I Substitution - Missense 1:66835699-66835699 - TCGA-A6-5661-01 COSM1344025 c.1386T>C p.H462H Substitution - coding silent 1:66840577-66840577 - S02285 COSM5684384 c.941-1G>T p.? Unknown 1:66862303-66862303 - HCC080T COSM5810556 c.528A>T p.T176T Substitution - coding silent 1:66893231-66893231 - ESO-175 COSM1270433 c.2050C>T p.H684Y Substitution - Missense 1:66827874-66827874 - TCGA-57-1584-01 COSM78776 c.2223G>T p.L741F Substitution - Missense 1:66826936-66826936 - TCGA-D3-A51G-06 COSM911773 c.1699C>T p.R567W Substitution - Missense 1:66835660-66835660 - SW48 COSM2240112 c.477C>A p.S159S Substitution - coding silent 1:66893282-66893282 - ESCC_62 COSM5632978 c.348A>G p.V116V Substitution - coding silent 1:66893411-66893411 - EGC3 COSM5053654 c.1495-1G>T p.? Unknown 1:66837797-66837797 - pfg068T COSM4756808 c.1011A>T p.K337N Substitution - Missense 1:66862232-66862232 - TCGA-B8-5550-01 COSM3360985 c.87A>T p.K29N Substitution - Missense 1:66924745-66924745 - QC2-26-T2 COSM5653456 c.2214G>A p.K738K Substitution - coding silent 1:66826945-66826945 - TCGA-ER-A194-01 COSM3492011 c.20C>T p.S7F Substitution - Missense 1:66924812-66924812 - PT23_1 COSM5902522 c.1090G>A p.E364K Substitution - Missense 1:66862153-66862153 - TCGA-B0-5691-01 COSM464888 c.465A>C p.E155D Substitution - Missense 1:66893294-66893294 - TCGA-06-2570-01 COSM3400976 c.1291G>A p.E431K Substitution - Missense 1:66847484-66847484 - TCGA-G3-A25U-01 COSM4911131 c.2113-1G>A p.? Unknown 1:66827047-66827047 - Au1 COSM5597889 c.1168C>T p.H390Y Substitution - Missense 1:66847607-66847607 - TCGA-AP-A0LM-01 COSM911776 c.1342G>T p.E448* Substitution - Nonsense 1:66840621-66840621 - 9583_CLM COSM5754495 c.1096A>G p.N366D Substitution - Missense 1:66862147-66862147 - CSCC-49-T COSM4562551 c.931G>A p.E311K Substitution - Missense 1:66871379-66871379 - TCGA-AA-3672-01 COSM267761 c.210_211insT p.A71fs*30 Insertion - Frameshift 1:66905335-66905336 - SH-4885 COSM5018988 c.231A>G p.S77S Substitution - coding silent 1:66905315-66905315 - TCGA-D1-A103-01 COSM911774 c.1684G>A p.A562T Substitution - Missense 1:66835675-66835675 - CSCC-32-T COSM4466466 c.1436C>T p.S479F Substitution - Missense 1:66840527-66840527 - TCGA-D1-A167-01 COSM911784 c.11G>A p.G4D Substitution - Missense 1:66924821-66924821 - LUAD-S01315 COSM345088 c.106C>T p.P36S Substitution - Missense 1:66924726-66924726 - LUAD-E00918 COSM364886 c.2236G>A p.A746T Substitution - Missense 1:66826923-66826923 - 41T COSM3377266 c.619C>T p.R207W Substitution - Missense 1:66891178-66891178 - Au1 COSM911769 c.2254G>A p.D752N Substitution - Missense 1:66826905-66826905 - NPC3D COSM4995480 c.473C>A p.S158Y Substitution - Missense 1:66893286-66893286 - HCC41T COSM1602641 c.2497-4_2497-3insT p.? Unknown 1:66814183-66814184 - RK019_C01 COSM1627167 c.1822A>G p.I608V Substitution - Missense 1:66834060-66834060 - Gp2D COSM1344030 c.89delA p.K30fs*28 Deletion - Frameshift 1:66924743-66924743 - H1672 COSM316554 c.2035G>T p.G679C Substitution - Missense 1:66827889-66827889 - LUAD-NYU1051S COSM368412 c.845G>T p.G282V Substitution - Missense 1:66871465-66871465 - TCGA-DA-A1I5-06 COSM3491995 c.1701G>A p.R567R Substitution - coding silent 1:66835658-66835658 - TCGA-G4-6304-01 COSM1344026 c.1385A>T p.H462L Substitution - Missense 1:66840578-66840578 - TCGA-36-2533-01 COSM1320931 c.842T>G p.L281* Substitution - Nonsense 1:66871468-66871468 - TCGA-46-3769-01 COSM682333 c.38C>G p.A13G Substitution - Missense 1:66924794-66924794 - SNUH_G76_S1 COSM4416995 c.282C>T p.T94T Substitution - coding silent 1:66905264-66905264 - TCGA-EK-A3GJ-01 COSM4852313 c.720C>G p.L240L Substitution - coding silent 1:66874861-66874861 - TCGA-AX-A05Z-01 COSM911781 c.580G>T p.E194* Substitution - Nonsense 1:66891217-66891217 - TCGA-D1-A177-01 COSM911780 c.693C>T p.D231D Substitution - coding silent 1:66874888-66874888 - LUAD-S01345 COSM397119 c.29C>T p.S10L Substitution - Missense 1:66924803-66924803 - TCGA-AX-A0J0-01 COSM911782 c.573A>C p.S191S Substitution - coding silent 1:66891224-66891224 - LUAD-NYU201 COSM371221 c.1000T>G p.L334V Substitution - Missense 1:66862243-66862243 - YUKAT COSM5381445 c.2532A>G p.S844S Substitution - coding silent 1:66814145-66814145 - SNUH_G26_S1 COSM3997641 c.1209C>T p.D403D Substitution - coding silent 1:66847566-66847566 - 587376 COSM1232659 c.1146A>C p.K382N Substitution - Missense 1:66847629-66847629 - Pat_16_A COSM1344030 c.89delA p.K30fs*28 Deletion - Frameshift 1:66924743-66924743 - TCGA-BR-6802-01 COSM4009595 c.1281T>C p.P427P Substitution - coding silent 1:66847494-66847494 - TCGA-D1-A101-01 COSM911772 c.1771C>T p.L591L Substitution - coding silent 1:66834111-66834111 - TCGA-BR-8680-01 COSM390355 c.2257G>A p.V753I Substitution - Missense 1:66826902-66826902 - TCGA-BR-4369-01 COSM4009601 c.630G>A p.L210L Substitution - coding silent 1:66891167-66891167 - MO_1014 COSM5558147 c.1542A>T p.K514N Substitution - Missense 1:66837749-66837749 - Pat_41_B COSM5847239 c.1760C>T p.P587L Substitution - Missense 1:66834122-66834122 - 05-P8014 COSM4577539 c.284T>C p.V95A Substitution - Missense 1:66905262-66905262 - S00841 COSM318292 c.250G>A p.A84T Substitution - Missense 1:66905296-66905296 - ESO-005 COSM1270432 c.2148T>C p.C716C Substitution - coding silent 1:66827011-66827011 - TCGA-B0-5099-01 COSM464885 c.2253C>T p.Y751Y Substitution - coding silent 1:66826906-66826906 - HCC163 COSM3706006 c.471A>G p.I157M Substitution - Missense 1:66893288-66893288 - PDA_098 COSM5003395 c.1994G>T p.C665F Substitution - Missense 1:66833604-66833604 - SC_9081 COSM5547595 c.2409_2412delAACA p.T804fs*5 Deletion - Frameshift 1:66822445-66822448 - TCGA-B5-A11H-01 COSM911775 c.1597T>C p.Y533H Substitution - Missense 1:66835762-66835762 - TCGA-D7-6526-01 COSM4009592 c.1587A>G p.P529P Substitution - coding silent 1:66835772-66835772 - TCGA-EB-A44P-01 COSM3492002 c.1150C>T p.H384Y Substitution - Missense 1:66847625-66847625 - 8044630 COSM4389548 c.2168G>T p.C723F Substitution - Missense 1:66826991-66826991 - TCGA-BR-8680-01 COSM4009603 c.482G>C p.S161T Substitution - Missense 1:66893277-66893277 - TCGA-A7-A56D-01 COSM3805829 c.2044G>T p.E682* Substitution - Nonsense 1:66827880-66827880 - Au1 COSM5597891 c.2161T>A p.L721I Substitution - Missense 1:66826998-66826998 - CHC1611T COSM4789311 c.2282A>G p.Y761C Substitution - Missense 1:66826877-66826877 - CHEWS007 COSM4577538 c.1975C>T p.R659* Substitution - Nonsense 1:66833623-66833623 - 145 COSM3735065 c.2009C>T p.P670L Substitution - Missense 1:66833589-66833589 - Pat_32_B COSM1344030 c.89delA p.K30fs*28 Deletion - Frameshift 1:66924743-66924743 - cSCCP6 COSM136138 c.2369A>G p.N790S Substitution - Missense 1:66822488-66822488 - PTC-7C COSM3997641 c.1209C>T p.D403D Substitution - coding silent 1:66847566-66847566 - TCGA-CJ-4641-01 COSM1134944 c.1527A>G p.G509G Substitution - coding silent 1:66837764-66837764 - 41P3 COSM3377266 c.619C>T p.R207W Substitution - Missense 1:66891178-66891178 - Au5 COSM5606189 c.1221G>A p.M407I Substitution - Missense 1:66847554-66847554 - 1_RESISTANT COSM1720986 c.1623T>G p.A541A Substitution - coding silent 1:66835736-66835736 - CSCC-41-T COSM4535575 c.2203G>A p.E735K Substitution - Missense 1:66826956-66826956 - ESCC_159 COSM5646993 c.1976G>C p.R659P Substitution - Missense 1:66833622-66833622 - QC2-42-T2 COSM5656174 c.405T>G p.L135L Substitution - coding silent 1:66893354-66893354 - ME049T COSM229870 c.2498G>A p.G833E Substitution - Missense 1:66814179-66814179 - B22-Tumor COSM1748578 c.1067A>G p.Q356R Substitution - Missense 1:66862176-66862176 - HCC163T COSM3706006 c.471A>G p.I157M Substitution - Missense 1:66893288-66893288 - HT115 COSM2240102 c.940G>A p.G314S Substitution - Missense 1:66871370-66871370 - TCGA-B5-A0JY-01 COSM911779 c.813G>T p.K271N Substitution - Missense 1:66871497-66871497 - TCGA-33-4532-01 COSM682334 c.838A>T p.R280* Substitution - Nonsense 1:66871472-66871472 - S00841 COSM318292 c.250G>A p.A84T Substitution - Missense 1:66905296-66905296 - TCGA-27-2526-01 COSM3400975 c.1592G>A p.R531H Substitution - Missense 1:66835767-66835767 - P163 COSM1602641 c.2497-4_2497-3insT p.? Unknown 1:66814183-66814184 - BD179T COSM5499760 c.1207G>C p.D403H Substitution - Missense 1:66847568-66847568 - TCGA-CA-6717-01 COSM1344027 c.687_688insA p.E230fs*21 Insertion - Frameshift 1:66874893-66874894 - TCGA-CJ-4913-01 COSM464884 c.2304G>A p.E768E Substitution - coding silent 1:66826855-66826855 - TCGA-D9-A6EC-06 COSM4400638 c.1871G>A p.R624Q Substitution - Missense 1:66834011-66834011 - PD12803a COSM3769893 c.1513T>A p.Y505N Substitution - Missense 1:66837778-66837778 - Pat_01_B COSM1344030 c.89delA p.K30fs*28 Deletion - Frameshift 1:66924743-66924743 - T3152 COSM4741074 c.747delT p.F249fs*10 Deletion - Frameshift 1:66874834-66874834 - Pat_46_B COSM5847240 c.887G>A p.G296E Substitution - Missense 1:66871423-66871423 - YUMOKI COSM5381448 c.1863G>A p.W621* Substitution - Nonsense 1:66834019-66834019 - S02273 COSM5681464 c.1421G>T p.R474L Substitution - Missense 1:66840542-66840542 - TCGA-13-1497-01 COSM77013 c.354C>A p.D118E Substitution - Missense 1:66893405-66893405 - TCGA-EB-A431-01 COSM3491996 c.1576C>T p.P526S Substitution - Missense 1:66837715-66837715 - PT32 COSM5907185 c.1612G>A p.G538R Substitution - Missense 1:66835747-66835747 - PT09_1 COSM5894762 c.2458G>A p.E820K Substitution - Missense 1:66822399-66822399 - TCGA-BR-6452-01 COSM4009599 c.643+2T>C p.? Unknown 1:66891152-66891152 - CHC892T COSM4798121 c.2340-1G>A p.? Unknown 1:66822518-66822518 - 4_RESISTANT COSM1724702 c.2113-9delT p.? Unknown 1:66827055-66827055 - TCGA-D7-6818-01 COSM4009591 c.2241T>A p.T747T Substitution - coding silent 1:66826918-66826918 - TCGA-18-3409-01 COSM682336 c.2203G>T p.E735* Substitution - Nonsense 1:66826956-66826956 - LUAD-CHTN-Z4716A COSM361361 c.2273A>T p.K758I Substitution - Missense 1:66826886-66826886 - ESCC_75 COSM3706006 c.471A>G p.I157M Substitution - Missense 1:66893288-66893288 - BCM275T COSM4949374 c.1538A>G p.Q513R Substitution - Missense 1:66837753-66837753 - TCGA-FS-A1ZA-06 COSM3492000 c.1201C>T p.H401Y Substitution - Missense 1:66847574-66847574 - PD9842a COSM5772737 c.2443C>A p.Q815K Substitution - Missense 1:66822414-66822414 - 8066852 COSM3772071 c.949T>C p.S317P Substitution - Missense 1:66862294-66862294 - TCGA-EE-A3AA-06 COSM3492006 c.621G>A p.R207R Substitution - coding silent 1:66891176-66891176 - LUAD-S01302 COSM395857 c.1227G>T p.R409R Substitution - coding silent 1:66847548-66847548 - BN45 COSM1602642 c.1544G>A p.R515K Substitution - Missense 1:66837747-66837747 - 2293782 COSM2240090 c.1467C>A p.S489R Substitution - Missense 1:66840496-66840496 - LS411 COSM1344030 c.89delA p.K30fs*28 Deletion - Frameshift 1:66924743-66924743 - TP_2054 COSM5574064 c.1734-10_1734-9insT p.? Unknown 1:66834157-66834158 - TCGA-14-1456 COSM2157677 c.36_37insG p.A13fs*3 Insertion - Frameshift 1:66924795-66924796 - YUQUEST COSM5381446 c.2276C>T p.S759L Substitution - Missense 1:66826883-66826883 - TCGA-G4-6304-01 COSM1344022 c.2443C>T p.Q815* Substitution - Nonsense 1:66822414-66822414 - TCGA-D1-A103-01 COSM911771 c.1897A>T p.M633L Substitution - Missense 1:66833701-66833701 - PT09_2 COSM5894762 c.2458G>A p.E820K Substitution - Missense 1:66822399-66822399 - PD9585a COSM5779523 c.531-3A>C p.? Unknown 1:66891269-66891269 - EGC15 COSM194561 c.1408G>A p.A470T Substitution - Missense 1:66840555-66840555 - TCGA-AZ-4315-01 COSM1344024 c.1969A>G p.I657V Substitution - Missense 1:66833629-66833629 - ZZUFHECRKL-G052T COSM5431356 c.2000C>A p.A667D Substitution - Missense 1:66833598-66833598 - 3N48-VS-3T48 COSM4982665 c.2092G>T p.D698Y Substitution - Missense 1:66827832-66827832 - PCSI_0101_Pa_P_526 COSM4963213 c.1060C>A p.Q354K Substitution - Missense 1:66862183-66862183 - ESCC_BICR_013T COSM5439297 c.1235T>C p.M412T Substitution - Missense 1:66847540-66847540 - TCGA-DK-A1AC-01 COSM1296658 c.1834A>T p.I612L Substitution - Missense 1:66834048-66834048 - 587376 COSM1232660 c.643+1G>A p.? Unknown 1:66891153-66891153 - TCGA-BR-6852-01 COSM2240091 c.1407C>T p.P469P Substitution - coding silent 1:66840556-66840556 - TCGA-D5-6927-01 COSM1344030 c.89delA p.K30fs*28 Deletion - Frameshift 1:66924743-66924743 - TCGA-F5-6814-01 COSM3419417 c.999T>C p.S333S Substitution - coding silent 1:66862244-66862244 - BCM269T COSM4949290 c.2062T>C p.C688R Substitution - Missense 1:66827862-66827862 - YUDON COSM5381447 c.2114G>T p.G705V Substitution - Missense 1:66827045-66827045 - TCGA-B5-A11E-01 COSM911773 c.1699C>T p.R567W Substitution - Missense 1:66835660-66835660 - TCGA-D1-A103-01 COSM911777 c.1301C>T p.P434L Substitution - Missense 1:66840662-66840662 - TCGA-EI-6507-01 COSM1560520 c.295C>T p.P99S Substitution - Missense 1:66905251-66905251 - TCGA-24-2035-01 COSM116953 c.55T>A p.W19R Substitution - Missense 1:66924777-66924777 - CSCC-10-T COSM4502388 c.611C>T p.S204F Substitution - Missense 1:66891186-66891186 - YUAKER COSM1687857 c.1976G>A p.R659Q Substitution - Missense 1:66833622-66833622 - TCGA-C8-A12W-01 COSM426624 c.1870C>T p.R624* Substitution - Nonsense 1:66834012-66834012 - 8034291 COSM3772070 c.1910G>A p.R637K Substitution - Missense 1:66833688-66833688 - TCGA-A6-6781-01 COSM1344030 c.89delA p.K30fs*28 Deletion - Frameshift 1:66924743-66924743 - B71 COSM1748577 c.2437G>T p.D813Y Substitution - Missense 1:66822420-66822420 - PCSI_0009_Pa_X COSM3377266 c.619C>T p.R207W Substitution - Missense 1:66891178-66891178 - LUAD-F00368 COSM341220 c.2493C>A p.G831G Substitution - coding silent 1:66822364-66822364 - CSCC-56-T COSM4470398 c.1659C>T p.A553A Substitution - coding silent 1:66835700-66835700 - TCGA-BR-4366-01 COSM2240092 c.1406C>T p.P469L Substitution - Missense 1:66840557-66840557 - LUAD-B02216 COSM391163 c.1594_1605del12 p.I532_S535delIYQS Deletion - In frame 1:66835754-66835765 - TCGA-C5-A1ML-01 COSM4837616 c.380G>A p.R127Q Substitution - Missense 1:66893379-66893379 - TCGA-AN-A046-01 COSM3805828 c.2205G>T p.E735D Substitution - Missense 1:66826954-66826954 - Gp5D COSM1344030 c.89delA p.K30fs*28 Deletion - Frameshift 1:66924743-66924743 - ME045T COSM229425 c.1416_1417GG>AC p.L472>? Complex 1:66840546-66840547 - TCGA-BH-A208-01 COSM1474164 c.173A>G p.N58S Substitution - Missense 1:66905373-66905373 - TCGA-D1-A103-01 COSM911769 c.2254G>A p.D752N Substitution - Missense 1:66826905-66826905 - 5_PRE-TREATMENT COSM1724702 c.2113-9delT p.? Unknown 1:66827055-66827055 - TCGA-GN-A266-06 COSM3491993 c.1982C>T p.A661V Substitution - Missense 1:66833616-66833616 - CHC1712T COSM4792010 c.2441G>T p.G814V Substitution - Missense 1:66822416-66822416 - TCGA-G4-6628-01 COSM3685958 c.1096_1096+1insA p.N366fs*2 Unknown 1:66862146-66862147 - SNUH_G16_S1 COSM3997643 c.1032T>C p.S344S Substitution - coding silent 1:66862211-66862211 - cSCCP5 COSM137774 c.1984C>T p.P662S Substitution - Missense 1:66833614-66833614 - 12924 COSM5614039 c.1507G>T p.V503F Substitution - Missense 1:66837784-66837784 - 1_PRE-TREATMENT COSM1720986 c.1623T>G p.A541A Substitution - coding silent 1:66835736-66835736 - RMS110_ COSM4987284 c.2079T>A p.N693K Substitution - Missense 1:66827845-66827845 - B71-Tumor COSM1748577 c.2437G>T p.D813Y Substitution - Missense 1:66822420-66822420 - TCGA-CJ-5679-01 COSM464886 c.1642G>A p.A548T Substitution - Missense 1:66835717-66835717 - B22 COSM1748578 c.1067A>G p.Q356R Substitution - Missense 1:66862176-66862176 - J10_T COSM3977831 c.1843G>A p.D615N Substitution - Missense 1:66834039-66834039 - LUAD-RT-S01832 COSM384568 c.260G>A p.S87N Substitution - Missense 1:66905286-66905286 - CHC1712T COSM4792010 c.2441G>T p.G814V Substitution - Missense 1:66822416-66822416 - TCGA-A5-A0VP-01 COSM911770 c.2036G>T p.G679V Substitution - Missense 1:66827888-66827888 - LUAD_E00522 COSM352933 c.271G>T p.V91L Substitution - Missense 1:66905275-66905275 - BN45T COSM1602642 c.1544G>A p.R515K Substitution - Missense 1:66837747-66837747 - CLL094 COSM1290227 c.1112C>T p.S371F Substitution - Missense 1:66847663-66847663 - TCGA-DA-A1IC-06 COSM3491994 c.1857C>T p.S619S Substitution - coding silent 1:66834025-66834025 - LUAD_E01086 COSM390355 c.2257G>A p.V753I Substitution - Missense 1:66826902-66826902 - TCGA-B0-4816-01 COSM464887 c.800+1G>A p.? Unknown 1:66874780-66874780 - PT42 COSM5924894 c.2354T>C p.I785T Substitution - Missense 1:66822503-66822503 - RK019_C COSM1627167 c.1822A>G p.I608V Substitution - Missense 1:66834060-66834060 - Pat_06_A COSM1344030 c.89delA p.K30fs*28 Deletion - Frameshift 1:66924743-66924743 - TCGA-CG-5721-01 COSM4009597 c.913T>A p.C305S Substitution - Missense 1:66871397-66871397 - CHC1611T COSM4789311 c.2282A>G p.Y761C Substitution - Missense 1:66826877-66826877 - 631084 COSM324302 c.1216T>C p.F406L Substitution - Missense 1:66847559-66847559 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.49421 1p31.3

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C IntronicSNV . c.170+3264T>G 1 67387081 HC A C Missense p.Y751D c.2251T>G 1 67292591 HNSC - A Frameshift p.K64Nfs*5 c.191_192insT 1 67371037 LGG A G Missense p.F406L c.1216T>C 1 67313242 SCLC A G Missense p.F720S c.2159T>C 1 67292683 HNSC A G Missense p.Y533H c.1597T>C 1 67301445 UCEC A G Synonymous p.C716C c.2148T>C 1 67292694 ESCA A G Synonymous p.P427P c.1281T>C 1 67313177 STAD A - IntronicDeletion . c.1734-11delT 1 67299842 STAD A T Missense p.D215E c.645T>A 1 67340619 CM A T Missense p.W19R c.55T>A 1 67390460 OV A T Synonymous p.T747T c.2241T>A 1 67292601 STAD C A Missense p.G679V c.2036G>T 1 67293571 UCEC C A Missense p.G728V c.2183G>T 1 67292659 LUAD C A Missense p.L741F c.2223G>T 1 67292619 OV C A Missense p.V503F c.1507G>T 1 67303467 NSCLC C A Nonsense p.G616* c.1846G>T 1 67299719 LUAD CC GT Missense p.E473Q c.1416_1417delinsAC 1 67306229 CM C G Missense p.K299N c.897G>C 1 67337096 HNSC C G Synonymous p.L821L c.2463G>C 1 67288077 LUAD C T IntronicSNV . c.643+134G>A 1 67356703 HC C T Missense p.A470T c.1408G>A 1 67306238 BRCA C T Missense p.A47T c.139G>A 1 67390376 UCEC C T Missense p.A548T c.1642G>A 1 67301400 RCCC C T Missense p.A84T c.250G>A 1 67370979 SCLC C T Missense p.E431K c.1291G>A 1 67313167 GBM C T Missense p.G282S c.844G>A 1 67337149 COREAD C T Missense p.G833E c.2498G>A 1 67279862 CM C T Missense p.R531H c.1592G>A 1 67301450 GBM C T Missense p.V554I c.1660G>A 1 67301382 GBM C T SpliceDonorSNV . c.800+1G>A 1 67340463 RCCC C T Synonymous p.L210L c.630G>A 1 67356850 STAD C T Synonymous p.R207R c.621G>A 1 67356859 CM C T Synonymous p.R567R c.1701G>A 1 67301341 CM - GAAGAA IntronicInsertion . c.643+286_643+287insTTCTTC 1 67356550 CM G A Missense p.A18V c.53C>T 1 67390462 CM G A Missense p.A502V c.1505C>T 1 67303469 CM G A Missense p.H401Y c.1201C>T 1 67313257 CM G A Missense p.H684Y c.2050C>T 1 67293557 ESCA G A Missense p.P469L c.1406C>T 1 67306240 STAD G A Missense p.S371F c.1112C>T 1 67313346 CLL G A Missense p.S7F c.20C>T 1 67390495 CM G A Nonsense p.Q402* c.1204C>T 1 67313254 CM G A Nonsense p.R624* c.1870C>T 1 67299695 BRCA G A Synonymous p.D231D c.693C>T 1 67340571 UCEC G A Synonymous p.P109P c.327C>T 1 67370902 LUAD G A Synonymous p.P469P c.1407C>T 1 67306239 STAD G A Synonymous p.S619S c.1857C>T 1 67299708 CM G C IntronicSNV . c.1581+270C>G 1 67303123 CLL G C Missense p.A13G c.38C>G 1 67390477 LUSC G T Missense p.D118E c.354C>A 1 67359088 OV T A Missense p.K29N c.87A>T 1 67390428 RCCC T A Missense p.K5N c.15A>T 1 67390500 LUAD T A Nonsense p.R280* c.838A>T 1 67337155 LUSC T A Synonymous p.I523I c.1569A>T 1 67303405 LUAD T C IntronicSNV . c.1581+18A>G 1 67303375 CM T C Missense p.I608V c.1822A>G 1 67299743 HC T C Missense p.N58S c.173A>G 1 67371056 BRCA T C Synonymous p.P529P c.1587A>G 1 67301455 STAD T - Frameshift p.K30Rfs*28 c.89delA 1 67390426 LGG T - Frameshift p.K30Rfs*28 c.89delA 1 67390426 THCA T - Frameshift p.Q734Rfs*8 c.2201delA 1 67292641 CM TGG - IntronicDeletion . c.940+1837_940+1839delCCA 1 67335214 CLL T G Missense p.E155D c.465A>C 1 67358977 RCCC T G Missense p.E433D c.1299A>C 1 67306347 COREAD